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Cmv Disease

Disease Name : Cmv Disease, Treatment : The drug of choice for treatment of CMV disease is intravenous ganciclovir, although valganciclovir may be used for nonsevere CMV treatment in selected cases.,,Ganciclovir is a nucleoside analogue that inhibits DNA synthesis in the same manner as acyclovir., Pathophysiology : CMV is related to the viruses that cause chickenpox, herpes simplex and mononucleosis. CMV may cycle through periods when it lies dormant and then reactivates. If youre healthy, CMV mainly stays dormant.When the virus is active in your body, you can pass the virus to other people. The virus is spread through body fluids — including blood, urine, saliva, breast milk, tears, semen and vaginal fluids. Casual contact doesnt transmit CMV.Ways the virus can be transmitted include : Touching your eyes or the inside of your nose or mouth after coming into contact with the body fluids of an infected person.Sexual contact with an infected person.The breast milk of an infected mother.Organ, bone marrow or stem cell transplantation or blood transfusions.Birth. An infected mother can pass the virus to her baby before or during birth. The risk of transmitting the virus to your baby is higher if you become infected for the first time during pregnancy., Epidemiology : CMV seroprevalence in immunocompetent adults varies from 40-100% globally., About one out of every 200 babies is born with congenital CMV infection. About one in five babies with congenital CMV infection will have long-term health problems., variable, People who are pregnant and people with a compromised immune system can reduce their risk of CMV by avoiding contact with other people’s body fluids. Specific ways to reduce your risk include : ,,Don’t share food or forks, spoons, cups or other eating utensils with a child.,Don’t put a child’s pacifier in your mouth.,Wash your hands after changing a diaper or helping a child go to the bathroom. Use warm water and soap.,Use a condom when having oral, anal or vaginal sex, even if you always have sex with the same partner.,If you’ve received an organ transplant, your provider may treat you with antiviral medications to prevent CMV. They may monitor your blood for infections so that they can treat you as soon as possible if you do get infected., Complications : nan, Diagnostics : nan, Differential diagnosis : AUTOIMMUNE HEPATITIS, Epstein-Barr Virus, HIV infection, HIV infection and AIDS, infectious mononucleosis, Toxoplasmosis, viral hepatitis, disease description : Cytomegalovirus (CMV) is a common infection caused by a type of herpes virus. Pregnant people infected with CMV can give birth to a baby with congenital CMV. Congenital CMV can cause hearing loss and developmental issues. CMV can cause serious complications in people who have a compromised immune system, such as transplant recipients

Cns Primitive Neuroectodermal Tumour (pnet) (who G

Disease Name : Cns Primitive Neuroectodermal Tumour (pnet) (who G, Treatment : Chemotherapy varies with each protocol, but a combination of vincristine, cisplatinum, cyclophosphamide, etoposide is common., The current most effective therapy in these tumors is triple therapy, which is surgical resection plus radiation and chemotherapy., Craniospinal radiation is usually given due to the high incidence of distant leptomeningeal metastases and spinal seeding., Gross total resection is always attempted as it provides better outcomes., Pathophysiology : All embryonal tumors are classified as WHO IV. The term PNET is not used anymore. The genetic/molecular analysis of each tumor is essential. The histopathological changes are still important for the initial recognition of the tumor and the intraoperative consultation. Immunohistochemical staining shows specific characteristics in each tumor.Embryonal tumor with multilayered rosettes shows abundant neuropil and true rosettes, and have amplification of the C19MC region on chromosome 19.They show small multilayered round blue cells with pseudostratified neuroepithelium around a central lumen, which can be empty or contain eosinophilic debris. The nucleus of cells is away from the lumen. Histochemistry is positive for vimentin, cytokeratin, and CD99. It can be focally positive for epithelial membrane antigen (EMA). Synaptophysin,  neuron-specific protein, and neurofilament protein are positive for the neuropil. Those tumors classified as embryonal tumors, NOS, should be closely worked up because they may be classified into other tumor entities using current diagnostic techniques. The Ki-67 labeling index is very high.ATRT usually shows a loss of SMARCB1 (INI1) protein immunoreactivity. They have three groups (ATRT-TYR frequent at infratentorial regions in very young children, ATRTMYC prevalent at the supratentorial area in older children, ATRT-SHH at both ages).They can be positive for EMA and vimentin.CNS neuroblastoma with FOXR2 activation is highly cellular with small cells with hyperchromatic nuclei surrounded by a clear halo. Areas of neuropil, neurocytic cells, or ganglion cells are seen. Vascular pseudorosettes, nuclear palisades, and Homer Wright rosettes are commonly found. It can have microvascular proliferation., Epidemiology : 2%, In US, the incidence of PNET is 0.15 per 100, 000 children age 0 to 4, 0.05 per 100, 000 children age 5 to 9, 0.04 per 100, 000 children age 10 to 14, and 0.03 per 100, 000 adolescents age 15 to 19 years., poor, Complications : developmental delay, seizures, sensory deficits, neurocognitive disorders, Diagnostics : MRI, Differential diagnosis : ependymoma, medulloblastoma, disease description : The primitive neuroectodermal tumor (PNET) is no longer recognized. CNS embryonal tumors are now classified using specific genetic/molecular characteristics. Using molecular analysis, many tumors that were previously reported as PNET are now reclassified into know tumors with specific genetic characteristics.

Coarctation Of Aorta

Disease Name : Coarctation Of Aorta, Treatment : Balloon angioplasty and stenting. This may be the first treatment for aortic coarctation.,Resection with end-to-end anastomosis.,Subclavian flap aortoplasty. A part of the blood vessel that delivers blood to the left arm (left subclavian artery) might be used to expand the narrowed area of the aorta.,Bypass graft repair. This surgery uses a tube called a graft to reroute blood around the narrowed area of the aorta.,Patch aortoplasty. The surgeon cuts across the narrowed area of the aorta and then attaches a patch of synthetic material to widen the blood vessel., Pathophysiology : Coarctation of the aorta causes an increase in the upper extremity blood pressure, resulting in two common presentations. The first is the neonatal presentation that is associated with left ventricular dysfunction and shock from the neonatal myocardiums intolerance of the sudden increase in afterload that occurs with closure of the ductus arteriosus. This presentation often occurs within the first one to two weeks after birth. In patients with neonatal coarctation evolving while the patent ductus arteriosus is closing, the lower extremity saturation can be low as perfusion to the lower body can be maintained by ductal patency. In the era of lower extremity pulse oximetry screening in newborns, a neonate could often pass with an acceptable saturation as it is less common for the ductus to contribute significantly unless other left heart structures are hypoplastic. The second presentation occurs in older children and adults. Coarctation of the aorta in this scenario results in upper extremity hypertension, leading to early coronary artery disease, aortic aneurysm, and cerebrovascular disease, Epidemiology : approximately 0.06% to 0.08% of the general population, 3 cases per 10000 births., GOOD, There’s no specific way to prevent aortic coarctation. But prenatal care may impact your baby’s chances of having congenital heart disease. If you’re pregnant or planning a pregnancy, it’s important to : ,,Quit smoking and avoid drinking alcohol.,Avoid secondhand smoke.,Avoid using recreational drugs, especially cocaine.,Talk with your provider about any concerns you have. Genetic testing may be helpful if you or other biological family members have congenital heart disease., Complications : cardiomyopathy, congestive heart failure (CHF), hypertension, Infective endocarditis, aortic aneurysms, Diagnostics : ECG, trans thoracic 2D ECHO, BARIUM SWALLOW, CHEST X RAY, CT SCAN, Differential diagnosis : Aortic Dissection, hypoplastic left heart syndrome, myocarditis, occlusive peripheral arterial disease, sepsis, disease description : Coarctation of the aorta is a narrowing of the aorta, most commonly occurring just beyond the left subclavian artery. However, it can occur in various other locations of the aortic arch (proximal transverse) or even in the thoracic or abdominal aorta. The narrowing of the aorta raises the upper body blood pressure, causing upper extremity hypertension. Unrepaired coarctation leads to premature coronary artery disease, ventricular dysfunction, aortic aneurysm/dissection, and cerebral vascular disease by the third or fourth decade of life .

Coats Disease

Disease Name : Coats Disease, Treatment : Several approaches were described in the management of Coats’ disease; including pars plana vitrectomy (PPV) surgery, cryotherapy, laser photocoagulation and intravitreal steroids and/or anti-vascular endothelial growth factor (VEGF) injections., Pathophysiology : In Coats disease, the blood-retinal barrier breaks down, which causes plasma leakage into the vessel wall. The blood vessels become thickened and necrosed. This leads to a ‘sausage-like’ shape of the vessel. The abnormal pericytes and endothelial cells in retinal blood vessels subsequently degenerate. These blood vessels form aneurysms and later occlude,  leading to ischemia and rarely neovascularization., Epidemiology : incidence was 0.09 per 100, 000 population., poor, There is no known way to prevent Coats disease. However, it is possible to prevent or minimize the vision loss in many cases with proper treatment., Complications : cataract, VITREOUS HAEMORRHAGE, phthisis bulbi, rubeosis iridis, neovascular glaucoma, Neovascularization, Diagnostics : Optical coherence tomography (OCT), Optical coherence tomography (OCT), MRI, CT, Fundus fluorescein angiography (FFA), Ocular Ultrasonography (USG), Differential diagnosis : Alport Syndrome, capillary hemangiomas, Choroidal granuloma, inflammation, melanoma, RETINAL DETACHMENT, RETINITIS PIGMENTOSA, Tuberous sclerosis, disease description : Coats disease is a rare eye disorder involving abnormal development of blood vessels in the retina. Located in the back of the eye, the retina sends light images to the brain and is essential to eyesight. In people with Coats disease, retinal capillaries break open and leak fluid into the back of the eye. As fluid builds up, the retina begins to swell.

Coccidioidomycosis

Disease Name : Coccidioidomycosis, Treatment : medication : Amphotericin B , Fluconazole , Itraconazole , Oral itraconazole (200–400 mg daily) and fluconazole (400–800 mg ,daily) are effective in some forms of localized infection such as ,solitary disseminated skin lesions – the duration depending on ,the clinical response. Itraconazole may be effective in other disseminated forms of disease . At present there is insufficient ,evidence on the most effective doses of the newer antifungal drugs ,voriconazole and posaconazole and these are second line treatments. Intravenous amphotericin B (0.5–1 mg/kg daily) or liposomal amphotericin (3 mg/kg daily) is used for many of the other ,clinical forms of coccidioidomycosis, including severe disease for ,periods of between 2 and 4 weeks., Pathophysiology : Coccidioides species exist as mycelia in the environment and the laboratory. Mycelia grow by apical extension forming true septae along their course. In one week, these mycelial cells undergo a process of autolysis and thinning of their cell walls. Some of the remaining cells in the colony are transformed into barrel-shaped, loosely adherent arthroconidia. The arthroconidia are loosely connected to each other, becoming airborne at the slightest perturbation. Arthroconidia are 2 microns to 5 microns in length and are of the right size to reach the terminal bronchiole when inhaled. Once inside the lung, arthroconidia undergo remodeling from rectangular to spherical forms known as spherules. This transformation is facilitated by the shedding of the outer layer of the arthroconidia.The spherules grow to the size of 75 microns in diameter. The spherules divide internally by developing internal septae, which divide the spherule into compartments. Each compartment has endospores. As spherule impregnated with endospores grows, it eventually ruptures and releases the endospores in the region including the alveolar sacs. These endospores are picked up by the alveolar macrophages. The local release of endospores causes host response, and acute inflammation ensues. The endospores are capable of further multiplication within tissues and when released in the environment can lead to mycelial growth.Occasionally, in susceptible patients, spherule may leave the lung to set up an extrapulmonary infection. The most likely routes of dissemination appear to be due to trafficking of the macrophages carrying the spherules or the endospores. Mediastinal lymphadenopathy is frequently seen in coccidioidomycosis patients who have an extrapulmonary disease., Epidemiology : 15% to nearly 30% of community-acquired cases of pneumonia., the incidence of coccidioidomycosis was 42.6 cases per 100, 000 population and highest among persons aged 60 to 79 years, good, There is no vaccine or medication to prevent valley fever.,,However, you are less likely to become ill if you avoid breathing in outdoor dust in affected areas. If you are travelling to places known to have valley fever, you should : ,,avoid some outdoor areas, such as : ,construction sites,places where dirt is being dug up, such as farms,stay inside after dust storms and close your windows,use air filtration measures,avoid doing gardening, yard work or anything that puts you at close contact with dirt or dust,clean cuts and scrapes with soap and water, Complications : severe pneumonia\\/very severe pneumonia, disseminated infection, Diagnostics : FUNGAL CULTURE, SEROLOGIC TEST, CT SCAN, Potassium hydroxide (KOH) mount, Differential diagnosis : acute respiratory distress syndrome, Blastomycosis dermatology, BRONCHOGENIC CARCINOMA, Eosinophilic pneumonia, granuloma, Histoplasmosis, LUNG ABSCESS, Lung cancer, lymphoma, rheumatoid nodules, Wegener granulomatosis, disease description : Valley fever is a fungal infection caused by coccidioides (kok-sid-e-OY-deze) organisms. It can cause signs and symptoms such as a fever, cough and tiredness. Two coccidioides fungi species cause valley fever. These fungi are commonly found in soil in specific regions. The fungis spores can be stirred into the air by anything that disrupts the soil, such as farming, construction and wind. People can then breathe the fungi into their lungs. The fungi can cause valley fever, also known as acute coccidioidomycosis 

Coenzyme Q10 Deficiency

Disease Name : Coenzyme Q10 Deficiency, Treatment : Genetic counseling.,Primary coenzyme Q10 deficiency is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives, prenatal testing for pregnancies at increased risk, and preimplantation genetic testing are possible if the pathogenic variants in a family are known., Treatment of manifestations : In individuals with primary CoQ10 deficiency early treatment with high-dose oral CoQ10 supplementation (ranging from 5 to 50 mg/kg/day) can limit disease progression and reverse some manifestations; however, established severe neurologic and/or renal damage cannot be reversed. ACE inhibitors may be used in combination with CoQ10 supplementation in persons with proteinuria; renal transplantation is an option for those with ESRD. Treatment of hypertrophic cardiomyopathy, retinopathy, and sensorineural hearing loss is per usual practice., Pathophysiology : Primary coenzyme Q10 deficiency is caused by mutations in genes that provide instructions for making proteins involved in the production (synthesis) of a molecule called coenzyme Q10. Collectively, they are called the COQ genes. Most of the identified mutations have occurred in the COQ2, COQ4, COQ6, COQ8A, and COQ8B genes. Smaller numbers of mutations in other COQ genes have also been found to cause primary coenzyme Q10 deficiency.The coenzyme Q10 molecule has several critical functions in cells throughout the body. In cell structures called mitochondria coenzyme Q10 plays an essential role in a process called oxidative phosphorylation which converts the energy from food into a form cells can use. Coenzyme Q10 is also involved in producing pyrimidines, which are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. In cell membranes, coenzyme Q10 acts as an antioxidant, protecting cells from damage caused by unstable oxygen-containing molecules (free radicals), which are byproducts of energy production., Epidemiology : less than 1 in 100, 000 people., variable, Prevention of primary manifestations : Supplementation with high-dose oral CoQ10 can prevent progression of the renal disease and onset of neurologic manifestations., Complications : ascites, HYPERTROPHIC CARDIOMYOPATHY, nephrotic syndrome, Diagnostics : URINE R/M, White Blood Cell count WBC, GENETIC TESTING, COAGULATION PROFILE, Differential diagnosis : Ataxia, Mitochondrial encephalomyopathies, myopathy, Steroid-resistant nephrotic syndrome (SRNS), disease description : Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the body, especially the brain, muscles, and kidneys. As its name suggests, the disorder involves a shortage (deficiency) of a substance called coenzyme Q10.The severity, combination of signs and symptoms, and age of onset of primary coenzyme Q10 deficiency vary widely. In the most severe cases, the condition becomes apparent in infancy and causes severe brain dysfunction combined with muscle weakness (encephalomyopathy) and the failure of other body systems. These problems can be life-threatening. The mildest cases of primary coenzyme Q10 deficiency can begin as late as a persons sixties and often cause cerebellar ataxia.

Cold Panniculitis

Disease Name : Cold Panniculitis, Treatment : medication : Tetracycline , avoiding cold exposure and ,direct contact with ice products.in adult women, the use of loose, warm clothing should ,be recommended when riding, with avoidance of tight-fitting clothes and, where possible, cold exposure, Pathophysiology : Cold panniculitis shows a mostly lobular panniculitis, which consists of an infiltrate of lymphocytes and histiocytes in the fat lobules. Usually, the dermis shows a superficial and deep perivascular infiltrate mostly composed of lymphocytes, with no vasculitis. Inflammation is most intense at the dermal-subcutaneous junction. , Epidemiology : prevalence of 10%., variable, The patient is advised to avoid cold exposure., Complications : headache, eye problem, fever, Diagnostics : biopsy, Histopathological examination, Differential diagnosis : Acute cutaneous lupus erythematosus, FROSTBITE, lupus panniculitis, perniosis, poststeroid panniculitis, Scleredema, Sclerema neonatorum, disease description : Cold panniculitis is a form of injury to subcutaneous fat induced by exposure to cold, either environmental or as cold objects applied to the skin (e.g. ice packs). Infants are particularly susceptible to low temperature. In young children, the most commonly involved areas are the cheeks and chin.The most commonly affected areas in adults are the lateral upper thighs and gluteal region.

Colles Fracture

Disease Name : Colles Fracture, Treatment : "1- For an undisplaced fracture, immobilisation in a below-elbow plaster cast,2- For displaced fractures, manipulative reduction followed by immobilisation in Colles cast", Closed reduction and immobilization with either splint or cast : This is indicated in extraarticular fracture with acceptable shortening (< 5 mm) and dorsal angulation ( < 5 degrees or within 20 degrees of the contralateral side)., Closed Reduction and Percutaneous Pinning (CRPP) : ,,Indicated for extraarticular distal radius fractures. It has up to 90% success results when performed satisfactorily for the correct fracture pattern.,The K wires can be used as a reduction tool by inserting them dorsally into the fracture from distal to proximal.,Open Reduction and Internal Fixation (ORIF) : ,,Indicated for unstable fracture patterns ( Judged in the prereduction radiographs as per LaFontaine criteria),Progressive loss of reduction following closed attempt ( Loss of volar tilt and radial height).,Volar Plating , : New volar locking plates show improved support of the subchondral bone., Pathophysiology : PATHOANATOMY- The fracture line runs transversely at the cortico-cancellous junction. In the majority of cases, one or more of the displacements described below occur; although in a few cases it may be a crack fracture without displacement. The following are the displacements seen in Colles fracture : • Impaction of fragments • Dorsal displacement • Dorsal tilt • Lateral displacement • Lateral tilt • Supination As the displacement occurs, some amount of comminution of the dorsal and lateral cortices, and that of the soft cancellous bone of the distal fragment occurs. Rarely, the whole of the distal fragment is broken into pieces. Some of the following injuries are commonly associated with Colles fracture - • Fracture of the styloid process of the ulna. • Rupture of the ulnar collateral ligament. • Rupture of the triangular cartilage of the ulna. • Rupture of the interosseous radio-ulnar ligament, causing radio-ulnar subluxation., Epidemiology : he prevalence of wrist fractures was 12%, without gender difference., Colles fractures are the most common fractures in women up to the age of 75 years., poor, Preventing a Colles fracture might not be possible, but you can take certain safety precautions to lower your risk of injury, including : ,,Wear a wrist guard when you skate.,Wear wrist armor when you’re on a motorcycle.,Stay off ladders and avoid other heights.,Rearrange your home so that there’s nothing to trip over like rugs or small tables.,Falls aren’t always preventable. Do what you can to protect yourself., Complications : Stiffness of joint, Malunion, Subluxation of joint, "Sudecks osteodystrophy", Rupture of the extensor pollicis longus tendon, Diagnostics : X RAY AP VIEWS, X RAY, CT SCAN, x ray lateral view, Differential diagnosis : "BARTONS FRACTURE", GALEAZZI FRACTURE-DISLOCATION, MONTEGGIA* FRACTURE-DISLOCATION, "SMITHS FRACTURE (Reverse of Colles Fracture)", disease description : The Colles fracture is defined as a distal radius fracture with dorsal comminution, dorsal angulation, dorsal displacement, radial shortening, and an associated ulnar styloid fracture. The term Colles fracture is often used eponymously for distal fractures with dorsal angulation. These distal radius fractures are often caused by falling on an outstretched hand with the wrist in dorsiflexion, causing tension on the volar aspect of the wrist, causing the fracture to extend dorsally.This is a fracture at the distal end of the radius, at its cortico-cancellous junction (about 2 cm from the distal articular surface), in adults, with typical displacement. It is the commonest fracture in people above forty years of age, and is particularly common in women because of postmenopausal osteoporosis. It nearly always results from a fall on an out-stretched hand. There may be a typical "dinner fork deformity".

Collodion Baby

Disease Name : Collodion Baby, Treatment : The ,baby should be nursed in an incubator in a high-humidity atmos\x02phere, with careful monitoring of body temperature (overheating ,can also be an issue). Great attention needs to be given to fl uid ,and electrolyte balance 20 . In severe cases, fl uid therapy should ,be given intravenously, but in less severe cases oral or naso- ,gastric fl uid supplementation will suffi ce. Peritoneal dialysis ,may be indicated if renal failure occurs. Fluid loss is signifi cantly ,reduced by frequent applications of lipid; a 50%/50% mixture of ,white soft paraffi n and liquid paraffi n is ideal for this purpose. ,Frequent oiling of the skin increases mobility and comfort, accel\x02erates healing of fi ssures and may reduce the risk of infection , 21 . Supplemental feeds may be needed via a naso-gastric tube. ,Avoid topical products that contain active compounds (e.g. urea ,or salicylic acid) as toxicity is a real risk due to absorption., Pathophysiology : Predisposing factors include underlying genetic mutations which predispose to this condition. Skin biopsy at birth is rarely done as it is a clinical diagnosis. The pathology does not help predict the outcome of the skin disease. Histologically the membrane is a compact, thickened orthokeratotic stratum corneum : the epidermis and dermis are both relatively normal . Genetic diagnosis has become increasingly available and affordable. Genetics A variety of genotypes can present with the phenotpype of collodion baby. Associated diseases Almost 90% of collodion babies will go on to develop a severe form of autosomal recessive ichthyosis in the fi rst few weeks of life : lamellar ichthyosis and non-bullous ichthyosiform erythroderma (syn. congenital ichthyosiform erythroderma) are the most common . The collodion baby phenotype is also reported in the rarer autosomal dominant form of lamellar ichthyosis and in bathing suit ichthyosis ; it is also characteristic of the trichothiodystrophy–ichthyosis syndrome . There are other ichthyoses in which an initial collodion baby phase has occasionally been reported. These include the Netherton syndrome , neutral lipid storage disease , Loricrin keratoderma (syn. Camisa’s keratoderma) and Sjögren–Larsson syndrome , but the great majority of neonates with these disorders do not demonstrate the collodion baby phenotype. A transient collodion membrane has also been reported in Gaucher disease. In about 10% of cases, the collodion baby phase is followed by a relatively mild ichthyosis of lamellar type or indeed normal skin (self-healing ichthyosis)., Epidemiology : 1 in 50, 000 to 1 in 100, 000 birth, variable, To Do : Prevention of infection is of the greatest importance in saving ,these babies. Great attention should be paid to this aspect of care. ,Skin punctures should be kept to a minimum, and vascular access ,should be avoided as far as possible, Complications : Acute Renal Failure, septicaemia, respiration failure, hypernatraemic dehydration, Diagnostics : HISTOPATHLOGY, MRI Brain, GENETIC TESTING, plain radiograph, Differential diagnosis : harlequin ichthyosis, Netherton syndrome, Restrictive dermopathy, Trichothiodystrophy, disease description : Collodion baby is a distinctive phenotype present at birth. It usually precedes the development of one of a variety of ichthyoses, the commonest of which are the autosomal recessive ichthyoses. Age It presents at birth. Sex There is a slight predominance in males. Ethnicity There is an equal distribution.

Coloboma Of The Lid

Disease Name : Coloboma Of The Lid, Treatment : Corneal protection and amblyopia management is the primary goal of medical treatment. Artificial tears and ointment, moist chamber optical bandages, and bedtime patching will help protect the cornea, 1) Upper Eyelid Reconstruction,2) Lower Eyelid Reconstruction,3)direct lid closure,Tenzel “semicircular” flap : For central defects that cannot be closed directly, a superiorly/inferiorly based semicircular flap can be transposed from the lateral canthal area, Pathophysiology : This is a notch in the edge of the lid. The gap is usually situated to the inner side of the midline, generally affecting the upper lid, but two or more defects may occur in the same lid. Sometimes a bridge of skin links the coloboma to the globe, or there is a dermoid astride the limbus at the site of the coloboma. There are often other congenital defects of the eye or other parts of the body such as coloboma of the iris or accessory auricles. Some cases are due to incomplete closure of the embryonic facial cleft, others probably to the pressure of amniotic bands. Occasionally there is a notch at the outer part of the lower lid, associated with maldevelopment of the first visceral arch (mandibulofacial dysostosis, Goldenhar syndrome)., Epidemiology : present in about 1 in 10, 000 births, GOOD, AVOID Drinking alcohol. Smoking or using tobacco product IN PREGNANCY ., Complications : amblyopia, cataract, KERATITIS, vision abnormalities, Diagnostics : CT SCAN, PHYSICAL EXAMINATION, Differential diagnosis : CHARGE Syndrome, LIMBAL DERMOID, Oculocerebrocutaneous syndrome (OCCS), Treacher-Collins syndrome, disease description : The term coloboma derives from the Greek word “koloboma, ” which means a hole or a tissue defect. An eyelid coloboma is a congenital full-thickness defect of the eyelid margin and may also involve different structures of the eye : eyelids, iris, lens, ciliary body, choroid, retina, or optic nerve.Congenital eyelid coloboma can be unilateral or bilateral, involving one or all four lids. The defect may vary from a small marginal notch to a full-thickness absence of the entire eyelid margin involving one-third to half of the eyelid. Usually, the upper eyelid is commonly affected, and the most common site is the junction between the medial and middle third of the upper eyelid. Eyelid colobomas represent an incomplete form of cryptophthalmos.

Colonic Diverticula

Disease Name : Colonic Diverticula, Treatment : elective sigmoid colectomy, Pathophysiology : nan, Epidemiology : poor, To Do : high-fibre diet and bulk-forming laxatives, ,Nil by mouth to ‘rest the bowel’, Complications : ACUTE INTESTINAL OBSTRUCTION, DIVERTICULITIS, FISTULA-IN-ANO, perforation, Hemorrhagic colitis, Diagnostics : Barium Enema, colonoscopy, CT SCAN, CT VIRTUAL COLONOSCOPY, SPIRAL CT ABDOMEN, CONTRAST RADIOLOGY, Differential diagnosis : nan, disease description : Diverticula (hollow out-pouchings) are a common structural abnormality. They can be classified as : 1 Congenital. All three coats of the bowel are present in the wall of the diverticulum (e.g. Meckel’s diverticulum). 2 Acquired. There is no muscularis layer present in the diverticulum (e.g. sigmoid diverticular disease). Diverticula are found in the left colon in around 75% of over 70 year olds in the Western world. The condition is overwhelmingly found in the sigmoid but can affect the whole colon. Interestingly, in South-East Asia right-sided diverticular disease is more common. Diverticula are most often asymptomatic (diverticulosis) and found incidentally, but they can present clinically with sepsis or haemorrhage.

Colorado Tick Fever

Disease Name : Colorado Tick Fever, Treatment : medication : acetaminophen, Getting plenty of rest and staying hydrated are important as well., Pathophysiology : The pathophysiology of Colorado tick fever involves several key processes : Transmission : The CTFV is primarily transmitted to humans through the bite of infected ticks, particularly the Rocky Mountain wood tick (Dermacentor andersoni) and the American dog tick (Dermacentor variabilis). These ticks acquire the virus by feeding on infected rodents, particularly the chipmunks and squirrels that serve as reservoir hosts.Viral replication : Once the virus enters the human body through the tick bite, it initially infects skin cells and then spreads to the bloodstream. From there, the virus can reach various organs and tissues, including the bone marrow, liver, spleen, and lymph nodes. Within these cells, the virus replicates, leading to the production of more viral particles.Immune response : As the virus replicates and spreads, the immune system recognizes its presence and mounts an immune response. This response involves the activation of immune cells, such as macrophages and lymphocytes, which play a crucial role in controlling viral replication and eliminating infected cells.Inflammatory response : The immune response triggers the release of various cytokines and chemokines, leading to inflammation in the affected tissues. This inflammatory response contributes to the symptoms associated with Colorado tick fever, such as fever, headache, muscle aches, and fatigue.Hematological changes : Colorado tick fever can cause hematological abnormalities. The virus can infect and destroy red blood cell precursors in the bone marrow, leading to a decrease in red blood cell production (hemolytic anemia). Additionally, it can also affect platelet production, resulting in low platelet counts (thrombocytopenia).Resolution : In most cases, the immune system effectively controls the viral infection, and the symptoms gradually subside over a period of several days to weeks. However, in some individuals, particularly those with weakened immune systems, the infection may persist or lead to complications., Epidemiology : 0.02 per million population, incidence of Colorado tick fever is highest between February and October, with 90 percent of cases being reported between April and July, variable, When walking or hiking in tick-infested areas : ,,Wear closed shoes,Wear long sleeves,Tuck long pants into socks to protect the legs,Wear light-colored clothing, which shows ticks more easily than darker colors. This makes them easier to remove.,,Check yourself and your pets frequently. If you find ticks, remove them right away by using tweezers, pulling carefully and steadily. Insect repellent may be helpful., Complications : Meningitis, ENCEPHALITIS, Diagnostics : Complete Blood Count CBC, LIVER FUNCTION TEST LFT, SEROLOGIC TEST, PCR, Differential diagnosis : Enterovirus Diseases, Influenza, "lymes disease", MEASLES, meningococcemia, relapsing fever, Rocky Mountain spotted fever, tularemia, disease description : Colorado tick fever is a viral infection transmitted through a bite from an infected Dermacentor andersoni wood tick. This tick species is more commonly referred to as the Rocky Mountain wood tick.Ticks are small brown parasites that are most commonly found in wooded areas and fields. They need blood from animals and humans in order to survive.

Colorectal Cancer

Disease Name : Colorectal Cancer, Treatment : 5 fluorouracil (5 FU) with folinic acid (leucoverin/LV) is the ,most commonly used regime for 6 months as monthly cycles. ,Folinic acid potentiates the action of 5 FU. ,Levamisole 150 mg/day for 3 days given once in 15 days for ,one year with intravenous 5 FU monthly for one year. ,lrinotecan/5 FU/LV-IFL regime is also used., Right-sided early growth : 1,, Right radical hemicolectomy with ilea-transverse ,anastomosis is done.,2.Transverse colon growth : nan,, . An extended right hemicolectomy.,3.Left-sided early growth : nan,, . Left radical hemicolectomy is done, where in left ½ of ,transverse colon and descending colon is removed along ,with lymph nodes., Pathophysiology : The transformation of the normal colonic epithelium to a precancerous lesion (adenoma) and ultimately to invasive carcinoma requires an accumulation of genetic mutations either somatic (acquired) and/or germline (inherited). The theory of colonic carcinogenesis features a clonal mutation evolution that gives a cell survival-immortality advantage and allows to develop more mutations providing other cancer hallmarks as proliferation, invasion, metastasis, and others. Clinical evidence has shown that CRCs frequently arise from adenomatous polyps that typically acquire dysplastic changes in a 10 to 15-year period before developing invasive carcinoma, and the early detection-removal of polyps will reduce the incidence of CRC. New evidence has exposed that hamartomatous and serrated polyps could lead to CRC. There are three major molecular pathways linked to CRC, chromosomal instability, mismatch repair, and hypermethylation. The chromosomal instability pathway is a gain of mutations unbalancing oncogene and tumor suppressors equilibrium as seen with mutations in the adenomatous polyposis coli (APC), a hallmark of FAP. Cells with deficiency of DNA mismatch repair (dMMR), commonly MLH1 or MSH2, accumulate errors within the genome that further will be repeated causing high levels of microsatellite instability (MSI-H), a hallmark of Lynch syndrome. CpG hypermethylation of DNA could activate or silence the expression of certain genes, BRAF and MLH1 respectively. Sporadic oncogenes somatic mutations (RAS, SRC, MYC) have been implicated in CRC, being RAS the most clinical relevance. RAS mutations variants (HRAS, KRAS, NRAS) are found in 50% of CRC sporadic cases, currently being exploited on CRC screening by stool-DNA testing, the absence of epidermal growth factor receptors (EGFR) targeted therapy response and potential direct targeted agents. In the other hand, tumor suppressors genes require bi-allelic loss (“two-hit model”) and are described in loss of APC 5q21 gene (80% sporadic), TP53 17p gene (50-70% sporadic), and DCC/SMAD2-4 18q gene (73% sporadic). Specific MMR gene mutations could occur in hMSH2, hMLH1, hPMS1 and hPMS2, hMSH6, and hMLH3; each one of them that interact with MLH1 and approximately found in 15% of all sporadic CRC causing a Lynch-like syndrome with MSI-H calling for universal testing. MUTYH defects have a recessive inheritance pattern at a time requiring bi-allelic second hit or in conjunction with APC gene mutation. Cyclooxygenase (COX-2) and peroxisome proliferator–activating receptor (PPAR) genes have been implicated in CRC tumorigenesis currently under investigation for chemo-protection., Epidemiology : 1 in 23 for men and 1 in 26 for women., Approximately 35 000 patients are diagnosed with cancer, poor, You may not be able to prevent colon cancer, but you can reduce your risk of developing the condition by managing risk factors : ,,1. Avoid tobacco.,2. Use moderation when you drink beverages containing alcohol.,3. Maintain a healthy weight.,4. Eat a healthy diet.,5. Keep track of your family medical history.,6. Follow colon cancer screening guidelines., Complications : Bowel obstruction, iron deficiency anemia, perforation, Metastasis, Diagnostics : colonoscopy, PET SCAN, TISSUE BIOPSY, MRI, CT SCAN, DOUBLE CONTRAST BARIUM ENEMA, USG, Differential diagnosis : Arteriovenous Malformation (AVM), CARCINOID TUMORS, Crohns Disease, Gastrointestinal lymphoma, Hemorrhoids, Ileus, Small intestine carcinomas, Small intestine diverticulosis, Ulcerative Colitis, disease description : Colorectal cancer (CRC) is the third most common diagnosis and second deadliest malignancy for both sexes combined. CRC has both strong environmental associations and genetic risk factors. The incidence of new cases and mortality has been steadily declining for the past years, except for younger adults (younger than 50 years), possibly related to an increase in cancer screening and better therapy modalities. Approximately 5% of all CRC are attributed to two inherited syndromes, Familial Adenomatous Polyposis, and Lynch syndrome.  The change of the normal colonic epithelium to a precancerous lesion and ultimately an invasive carcinoma requires an accumulation of genetic mutations either somatic (acquired) and/or germline (inherited) in an approximately 10 to 15-year period. Chromosomal instability, mismatch repair, and CpG hypermethylation are the major pathways to CRC. The most important prognostic colon cancer indicator is the pathological stage at presentation. All new CRC cases should be universally screen for DNA mismatch repair/microsatellite status, and RAS/BRAF mutational testing when considering for prognostic and predictive of chemotherapy efficacy. In almost all patients, a diagnostic or screening colonoscopy is required for tissue biopsy pathological confirmation of colon carcinoma. Baseline computed tomography (CT) of the chest, abdomen, and pelvis with contrast and carcinoembryonic antigen (CEA) are the preferred cost-effective, colon-cancer staging studies done before surgical resection. Surgical resection is the main treatment modality for localized early-stage colon cancer. Adjuvant therapy could augment the chance of cure on high-risk patients with colon cancer. Oligo-metastatic, liver and lung, and local-recurrence patients with colon cancer are potential curable candidates with multimodality therapies. Palliative systemic therapy is reserved for non-surgical colon cancer candidates aiming to improve quality of life and prolong life expectancy .

Colour Blindness

Disease Name : Colour Blindness, Treatment : There’s no cure for color blindness that’s passed down in families, but most people find ways to adjust to it. Children with color blindness may need help with some classroom activities, and adults with color blindness may not be able to do certain jobs, like being a pilot or graphic designer. Keep in mind that most of the time, color blindness doesn’t cause serious problems.,,If your color blindness is happening because of another health problem, your doctor will treat the condition that’s causing the problem. If you’re taking a medicine that causes color blindness, your doctor may adjust how much you take or suggest you switch to a different medicine.,,If color blindness is causing problems with everyday tasks, there are devices and technology that can help, including : nan,,Glasses and contacts. Special contact lenses and glasses may help people who are color blind tell the difference between colors.,Visual aids. You can use visual aids, apps, and other technology to help you live with color blindness. For example, you can use an app to take a photo with your phone or tablet and then tap on part of the photo to find out the color of that area., Pathophysiology : Heres a breakdown of the pathophysiological mechanisms underlying color blindness : Normal color vision : To understand color blindness, its important to briefly explain how normal color vision works. The human eye contains specialized cells called photoreceptors, located in the retina at the back of the eye. There are two main types of photoreceptors involved in color vision : cones and rods. Cones are responsible for color perception, while rods are responsible for vision in low-light conditions.Cone abnormalities : Color blindness primarily stems from abnormalities in the cones, specifically the three types of cones that respond to different wavelengths of light : red, green, and blue cones. The most common type of color blindness is red-green color blindness, which is caused by a deficiency or absence of either red or green cones. This deficiency results in a reduced ability to perceive or differentiate between red and green colors.Genetic factors : Color blindness is often an inherited condition caused by mutations or genetic variations in the genes responsible for producing the photopigments in the cones. The genes that code for red and green photopigments are located on the X chromosome. As a result, color blindness is more common in males because they have only one X chromosome, while females have two X chromosomes, providing a greater chance for compensating for the defective gene.Structural abnormalitiesalities : In some cases, color blindness can also result from structural abnormalities in the eye. For example, certain conditions like optic nerve disorders, macular degeneration, or cataracts can affect the transmission of visual information to the cones or cause damage to the cones themselves, leading to color vision deficiencies.Dichromacy and anomalous trichromacy : Color blindness can manifest in different forms. Dichromacy refers to the complete absence of one type of cone, resulting in a limited color palette. Anomalous trichromacy, on the other hand, occurs when all three cone types are present, but one or more cones have altered sensitivities to light, leading to difficulties in discriminating between specific colors., Epidemiology : prevalence is only 0.5% to 1.0%., POOR, You can’t prevent inherited color blindness. However, you may be able to lower your risk of acquired color blindness. Visit a healthcare provider for yearly checkups and ask about your risk for developing color vision deficiency., Complications : vision abnormalities, Diagnostics : Farnsworth-Munsell 100 hue test, Farnsworth D15 hue discrimination test, Nagel’s anomaloscope, Ishihara color test, Differential diagnosis : age related macular degeneration, sickle cell anemia, disease description : Color blindness — also known as color vision deficiency (CVD) — is a condition where you don’t see colors in the traditional way. This can happen if certain cells known as photoreceptors, or more specifically cones, in your eyes are missing or not working correctly. These cones typically allow you to see each color on the rainbow. If you have color blindness, you might not see each of these colors. Don’t confuse color blindness with a type of blindness (a condition where you have limited or no sight) — color blindness is simply a change in the way your eyes see color.

Coma

Disease Name : Coma, Treatment : mechanical ventilation, Pathophysiology : The accepted pathophysiology of a coma involves neuronal dysfunction from a decrease in the supply of glucose or oxygen to the brain. A myriad of etiologies may lead to essential substrate disruption with diffuse central nervous system (CNS) dysfunction and coma as the extreme clinical condition. For example, any clinical process that causes circulatory collapse or profound hypoxemia may manifest as a coma. As little as fifteen seconds of circulatory collapse will result in loss of consciousness. If the cause of the circulatory collapse is brief and promptly restored, such as from a simple faint, consciousness is regained. If hypotension or hypoxemia continues, the altered mental state continues, and secondary CNS damage may occur. Hypoglycemia is encountered frequently in clinical practice most often in the association of treatment for diabetes mellitus or as a complication of alcoholism. Electrolyte abnormalities such as hyponatremia or hypercalcemia may disrupt normal neuronal metabolism. The pathophysiology of other causes of metabolic coma is not clear but may involve false neurotransmitters as is suggested in hepatic encephalopathy. Global depression of neuronal functioning is the most common mechanism of coma in toxins and poisonings.Structural lesions of the CNS, such as intracerebral hemorrhage, may lead to coma from direct destruction of arousal areas of the brain or from secondary damage from shifting of intracranial structures, vascular compression, or increased intracranial pressure . Herniation syndromes describe clinically recognizable physical examination features that may suggest the anatomic location of the CNS lesion. The most discussed of the herniation syndromes is uncal herniation, where the medial portion of the temporal lobes shifts with resulting loss of consciousness from brainstem compression. The pathophysiologic findings are often compression of the brainstem and cranial nerve III as it exits the brainstem and crosses the tentorium cerebelli. This results in impairment of the parasympathetic fibers (pupilloconstrictors) that travel with the third nerve, and in most cases pupillary dilatation on the same side (roughly 90%) of the mass lesion ., Epidemiology : 6.0 per 100 000 general population per year, POOR, It’s possible to prevent — or reduce your risk of having — many of the conditions that cause comas. Some of the most important ways you can prevent or reduce your risk of being in a coma include : ,,Managing your chronic conditions. Following your healthcare provider’s guidance on managing chronic conditions like diabetes and epilepsy can lower your odds of being in a coma in the future.,Wearing safety equipment as needed. Head injuries, especially concussions and traumatic brain injuries, are very common causes of comas. When applicable, wear safety equipment like helmets and seat belts to protect yourself.,Eating a balanced diet. Many of the most common causes of coma are related to diet, like electrolyte imbalances and nutrient deficiencies. Your diet also affects your circulatory health, which can help you avoid comas related to conditions like stroke.,Staying physically active and maintaining a weight that’s healthy for you. Your weight and activity level can prevent or delay conditions that affect your brain, especially conditions that can lead to comas.,Avoiding substance and nonmedical drug use, and using alcohol in moderation. Substance use disorders greatly increase the risk of a coma. You should also take prescription medications as directed, as this reduces the risk of complications and side effects like a coma., Complications : addisonian crisis, BEDSORES, Hydrocephalus, status epilepticus, Subarachnoid Hemorrhage, sudden cardiac death, urinary tract infections, Diagnostics : Arterial Blood Gas Analysis(ABG), ABG, Complete Blood Count CBC, CSF EXAMINATION, Magnesium, EEG, MRI Brain, SERUM ELECTROLYTE, CT SCAN, SERUM CALCIUM LEVEL, BLOOD GLUCOSE, Differential diagnosis : cerebral infraction, Hypoglycaemia, Intoxication, Intracerebral neoplasm, Myxedema, PNEUMONIA, septicaemia, shock old, status epilepticus, disease description : Coma reflects brain failure that may occur from a process originating in the central nervous system or may reflect a systemic metabolic process. Causes of coma range from easily correctable metabolic abnormalities to catastrophic life-threatening mass lesions. Coma is defined as a state of deep unconsciousness, an eyes-closed unresponsive state. Coma is usually a transitory state though it may last for an indefinite or even prolonged period. Alerting and arousal functions of the brain are affected as well as awareness and the content of consciousness. Brief loss of consciousness with full return to alertness defines syncope .

Combined Deficiency Of 5 K-dependent Clotting Factors (vkcfd)

Disease Name : Combined Deficiency Of 5 K-dependent Clotting Factors (vkcfd), Treatment : Vitamin K administration (oral or intravenously) is the mainstay of therapy in symptomatic VKCFD. Plasma supplementation and prothrombin complex concentrates are needed during surgery or severe bleeding episodes., Plasma infusions for surgical procedures and overt hemorrhage are indicated, and VKCFD patients often require multiple doses., Pathophysiology : Glutamate residues in coagulation factors II, VII, IX, and X (and the anticoagulant factors proteins C, S, and Z) are carboxylated by GGCX into ?-carboxyglutamate residues. Nine to 13 of these residues are found in the amino-terminal region of the circulating form of each of these proteins, constituting the -carboxyglutamic acid-rich Gla domain. Full activity of these factors (but not immunologic recognition) is provided by this posttranslational modification of the proteins in the endoplasmic reticulum. Once carboxylated, the proteins have a calcium-dependent conformation that allows binding to phospholipids and/or endothelial cells., Epidemiology : VKCFD is a very rare autosomal recessive disorder, with a low incidence (< 30 kindreds worldwide). As the disease is inherited in an autosomal recessive manner, the male to female ratio is 1 : 1., variable, Preventing vitamin K deficiency,,The best source is dark green leafy vegetables like spinach, parsley, broccoli, kale, cabbage, brussels sprouts and salad greens. Green beans, avocados, kiwifruit, vegetable oils, yoghurt, fermented food and drinks, and some cheeses are also good sources. Early intervention with appropriate treatment and prevention modalities would probably improve the prognosis, as with any coagulation disorder. As noted previously, factor levels partially improve with vitamin K therapy, and regular vitamin K dosing may maintain haemostasis, though not preventing all complications., Complications : developmental delay, neurological problem, INTRACRANIAL HAEMORRHAGE, Diagnostics : Complete Blood Count CBC, Factor VIII Assay, PROTHROMBIN TIME(PT), Genotyping, Differential diagnosis : CELIAC DISEASE, INFLAMMATORY BOWEL DISEASES, liver cirrhosis, disease description : VKCFD is a heterogeneous coagulation disorder consisting of a deficiency of clotting factors II (FII), VII (FVII), IX (FIX), X (FX), as well as the coagulation inhibitors protein C (PC), protein S (PS) and protein Z (PZ). The disease leads to a bleeding tendency with a variegate clinical picture. Two subtypes have been identified, deriving from mutations of two enzymes of the vitamin K cycle : VKCFD type1 is defined by defective GGCX activity, first reported in Devon Rex cats , while VKCFD type 2 derives from functional deficiency of VKORC .

Combined Hepatocellular And Cholangiocarcinoma

Disease Name : Combined Hepatocellular And Cholangiocarcinoma, Treatment : In cases of inoperable or recurrent cHCC-CCs, there are nonsurgical treatment options, which include transarterial chemoembolization (TACE), radioembolization, hepatic arterial infusional chemotherapy, ablative therapies, and systemic chemotherapy., Surgical resection is the only curative option for patients with cHCC-CC. The feasibility of surgery is dictated by several factors including patient’s overall physical condition, the extent of the tumor, and anatomical characteristics. The aim is to completely excise the lesion with clear margins and the least possible impact on the liver function, as significant liver impairment is associated with poor survival outcomes., Pathophysiology : 3 different hypotheses have been postulated for the development of cHCC-CC : Incidental coexistence of hepatocellular carcinoma (HCC) and intrahepatic cholangiocarcinoma (ICC) within the same tumorMalignant transformation of a hepatic progenitor cellDedifferentiation of an HCC or ICC, Epidemiology : between 0.4%–14.2% of primary liver cancer cases., bad, Limit alcohol and tobacco use, Complications : ascites, CIRRHOSIS, liver failure, Diagnostics : MRI, CT SCAN, USG, immunohistochemistry, Differential diagnosis : Hepatic tumors, hepatocellular carcinoma, Mesenchymal chondrosarcoma, disease description : Combined hepatocellular cholangiocarcinoma (CC) is a rare and aggressive primary hepatic malignancy with significant histological and biological heterogeneity. It presents with more aggressive behavior and worse survival outcomes than either hepatocellular carcinoma or CC and remains a diagnostic challenge. 

Comedo Naevus

Disease Name : Comedo Naevus, Treatment : Treatment options include topical and systemic retinoids. These sometimes are combined with topical steroids for their anti-inflammatory action, salicylic acid, or 12% ammonium lactate. ,Newer treatment avenues being explored include FGFR inhibitors, interleukin-1-alpha inhibitors, and anti-gamma-secretase drugs, Treatment options, for cosmetic reasons or in complicated cases, ,include topical therapy, laser, and surgery, Pathophysiology : A rudimentary pilosebaceous follicle is present, with a large overlying keratin-fi lled crater. The surface of the keratinous material oxidizes to give the comedone-like appearance. Rarely, lesions develop trichilemmal cysts. Genetics Signalling pathways and somatic mutations of tyrosine kinase receptors have been identified.A mutation of Fibroblast Growth Factor Receptor 2 (FGFR2) along with increased expression of interleukin-1-alpha is considered an important factor in the pathogenesis. Other possible factors include gamma-secretase and filaggrin. Recent studies have highlighted the importance of somatic mutations in NEK 9 in nevus comedonicus. NEK9 has been postulated to be important in the regulation of follicular homeostasis. The NEK 9 mutations are associated with increased phosphorylation at Thr210, indicating activation of NEK9 associated kinase. The formation of the comedones in nevus comedonicus also has been associated with other changes such as loss of markers of follicular differentiation and ectopic expression of keratin 10. A recent study has suggested a role for upregulation of ABCA 12 in nevus comedonicus., Epidemiology : 7.9%, 12 cases in 100, 000 skin biopsy specimens., Lesions are benign., Complications : nan, Diagnostics : HISTOPATHLOGY, Dermoscopy, Differential diagnosis : Acne vulgaris, Epidermoid cyst, Tuberous sclerosis, disease description : A rare abnormality of the follicular infundibulum presenting as a group of comedo-like lesions. It is suggested that it is a rare type of epidermal naevus. It is part of the naevus comedonicus syndrome. Age They may be present at birth or develop throughout adult life. Sex It shows no gender predilection.

Common Cold

Disease Name : Common Cold, Treatment : medication : Cetrimide , Oxymetazoline , Paracetamol/Acetaminophen, Loratadine, Oseltamivir , Pseudoephedrine, Menthol, Guaifenesin, These children are best nursed prone (on their,belly) so that there is no postnasal drip causing irritation,of the throat. The children should be protected from,sudden exposure to chills and kept warm during the,winter months, Antiviral, Supportive Care and Symptomatic Treatment, Pathophysiology : Viruses that cause the common cold are spread by three mechanisms : direct hand contact (self-inoculation of ones own nasal mucosa or conjunctivae after touching a contaminated person or object), inhalation of small-particle aerosols that are airborne from coughing, or deposition of large-particle aerosols that are expelled during a sneeze and land on nasal or conjunctival mucosa. Although the different common cold pathogens could be spread by any of these mechanisms, some routes of transmission appear to be more efficient than others for particular viruses. Studies of HRV and RSV indicate that direct contact is an efficient mechanism of transmission of these viruses, although transmission by largeparticle aerosols can also occur. By contrast, influenza viruses and coronaviruses appear to be most efficiently spread by small-particle aerosols. The respiratory viruses have evolved different mechanisms to avoid host defenses. Infections with HRV and adenoviruses result in the development of serotype-specific protective immunity. Repeated infections with these pathogens occur because there are a large number of distinct serotypes of each virus. Influenza viruses change the antigens presented on the surface of the virus due to genetic drift and thus behave as though there were multiple viral serotypes. The interaction of coronaviruses with host immunity is not well defined, but it appears that multiple distinct strains of coronaviruses are capable of inducing at least short-term protective immunity. There are four types of PIV, 2 antigenic subgroups of RSV, and 4 genotypes of MPV. In addition to antigenic diversity, many of these viruses are able to reinfect the upper airway because mucosal immunoglobulin A (IgA) induced by previous infection is short lived, and the brief incubation period of these viruses allows the establishment of infection before immune memory responses. Although reinfection is not completely prevented by the adaptive host response to these viruses, the severity of illness is moderated by preexisting immunity. Viral infection of the nasal epithelium can be associated with destruction of the epithelial lining, as with influenza viruses and adenoviruses, or there can be no apparent histologic damage, as with HRV, coronaviruses, and RSV. Viral shedding of most respiratory viruses peaks 3-5 days after inoculation, often coinciding with symptom onset; low levels of viral shedding may persist for up to 2 wk in the otherwise recovering healthy host. Inflammation can obstruct the sinus ostia or eustachian tube, predisposing to bacterial sinusitis or otitis media, respectively. The host immune system is responsible for most cold symptoms, rather than direct damage to the respiratory tract. Infected cells release cytokines, such as interleukin-8, that attract polymorphonuclear cells into the nasal submucosa and epithelium. HRV also increases vascular permeability in the nasal submucosa, releasing albumin and bradykinin, which may contribute to symptoms., Epidemiology : 10–15% of children have at least 12 infections per, GOOD, There is no vaccine to protect against the common cold. But you may be able to reduce your risk of getting or spreading a cold by : ,,Washing your hands often with soap and water for at least 20 seconds.,Avoiding touching your face, nose, or mouth with unwashed hands.,Avoiding close contact, such as kissing, shaking hands, and sharing cups and eating utensils, with others if you are sick or they are sick.,Cleaning and disinfecting surfaces that you frequently touch.,Covering coughs and sneezes with a tissue. Then throw away the tissue and wash your hands.,Staying home when sick., Complications : BRONCHIOLITIS, laryngitis, sinusitis, Acute Otitis Media, Exacerbation of asthma, bronchopneumonia, Diagnostics : Nasal Smear, X RAY CHEST, ANTIGEN DETECTION, PHYSICAL EXAMINATION, Differential diagnosis : foreign body, h/o Drug intake, disease description : The common cold is an acute viral infection of the upper respiratory tract in which the symptoms of rhinorrhea and nasal obstruction are prominent. Systemic symptoms and signs such as headache, myalgia, and fever are absent or mild. The common cold is frequently referred to as infectious rhinitis but may also include self-limited involvement of the sinus mucosa and is more correctly termed rhinosinusitis. Mannose-binding lectin deficiency with impaired innate immunity may be associated with an increased incidence of colds in children.

Common Variable Immuno Deficiency

Disease Name : Common Variable Immuno Deficiency, Treatment : medication : Hydrocortisone , Paracetamol/Acetaminophen, Diphenhydramine , Human normal immunoglobulin , The mainstay of treatment is immunoglobulin replacement for those patients who have substantial impairments in its production (generally two standard deviations below the normal range for IgG) and a lack of response to protein and polysaccharide vaccines. Despite the high cost, immunoglobulin replacement can decrease the burden of recurrent infections and their complications,Hydration should be maintained, after treating an active infection, therapy begins with adequate hydration. Subsequently, a slow infusion load of intravenous immune globulin (IVIG) must be administered until tolerance is appropriate, followed by maintenance doses., Pathophysiology : The clinical variability of CVID suggests that multiple immunoregulatory defects can result in the final common pathway of hypogammaglobulinemia.Reports exist of numerous immune-system abnormalities, the most common of which is defective antibody formation. As a consequence, humoral and cell-mediated lymphocytic responses are affected, and some patients may have a defect in the T-cell ability to help B cells, and/or B-cell response to T-cell help B Cells abnormalities :  The number of B cells is normal in the majority of patients, but many of them have reduced percentages of isotype-switched memory B cells capable of producing immunoglobin isotypes that are critical toward antibody response recall. Toll-like receptor signaling :  B cell maturation is defective, and the action of toll-like receptors 7 and 9 (TLR7 and TLR9) becomes impaired because of a yet unknown mechanism. Defective signaling of TLR7 and TLR9 in B cells and plasmacytoid dendritic cells, along with deficient IFN-a, impairs B cell functions and prevents TLR-mediated augmentation of humoral immunity in vivo., Epidemiology : CVID affects approximately 1 of 25000 individuals, with a higher prevalence in northern Europe, variable, You cannot prevent CVID. This condition is passed down through a family (genetic disorder) and is present throughout a person’s life., Complications : BRONCHIECTASIS, bronchospasm, granulomas, Diagnostics : Complete Blood Count CBC, COOMB TEST DIRECT, biopsy, CHEST X RAY, CT SCAN, culture of sputum, SERUM IMMUNOGLOBULINS, Flow cytometry, Differential diagnosis : Autoimmune Enteropathy, BURNS, Goodpasture Disease, MALIGNANCY, nephrotic syndrome, disease description : Common variable immunodeficiency disorder (CVID) is diverse, both in its clinical presentation and in the types of deficiency. It is a primary humoral immunodeficiency disorder characterized by reduced serum levels of immunoglobulin G (IgG) and immunoglobulin A (IgA) or immunoglobulin M (IgM), recurrent sinopulmonary infections, autoimmune disorders, granulomatous diseases, enhanced risk of malignancy, and impaired antibody response despite the adequate number of B cells.It is the most frequent symptomatic primary immunodeficiency disorder worldwide. Rather than a disease, it is a collection of hypogammaglobulinemia syndromes resulting from various genetic defects  (almost all of them are specific molecular defects with as yet an unknown cause),  named “variable” because of its heterogeneous clinical manifestations.

Community-acquired Pneumonia

Disease Name : Community-acquired Pneumonia, Treatment : medication : Amoxicillin and Clavulanic acid , Ceftriaxone , Azithromycin , Clarithromycin , Doxycycline , Levofloxacin , Moxifloxacin , Pathophysiology : Pneumonia results from the proliferation of microbial pathogens at the alveolar level and the host’s response to those pathogens. Microorganisms gain access to the lower respiratory tract in several ways. The most common is by aspiration from the oropharynx. Small-volume aspiration occurs frequently during sleep (especially in the elderly) and in patients with decreased levels of consciousness. Rarely, pneumonia occurs via hematogenous spread (e.g., from tricuspid endocarditis) or by contiguous extension from an infected pleural or mediastinal space. Mechanical factors are critically important in host defense. The hairs and turbinates of the nares capture larger inhaled particles before they reach the lower respiratory tract. The branching architecture of the tracheobronchial tree traps microbes on the airway lining, where mucociliary clearance and local antibacterial factors either clear or kill the potential pathogen. The gag and cough reflexes offer critical protection from aspiration. In addition, the normal flora adhering to mucosal cells of the oropharynx, whose components are remarkably constant, prevents pathogenic bacteria from binding and thereby decreases the risk of pneumonia. When these barriers are overcome or when microorganisms are small enough to be inhaled to the alveolar level, resident alveolar macrophages are extremely efficient at clearing and killing pathogens. Macrophages are assisted by proteins that are produced by the alveolar epithelial cells (e.g., surfactant proteins A and D) and that have intrinsic opsonizing properties or antibacterial or antiviral activity. Once engulfed by the macrophage, the pathogens—even if they are not killed—are eliminated via either the mucociliary elevator or the lymphatics and no longer represent an infectious challenge. Only when the capacity of the alveolar macrophages to ingest or kill the microorganisms is exceeded does clinical pneumonia become manifest. In that situation, the alveolar macrophages initiate the inflammatory response to bolster lower respiratory tract defenses. The host inflammatory response, rather than proliferation of microorganisms, triggers the clinical syndrome of pneumonia. The release of inflammatory mediators, such as interleukin 1 and tumor necrosis factor, results in fever.Chemokines, such as interleukin 8 and granulocyte colony-stimulating 909 factor, stimulate the release of neutrophils and their attraction to the lung, producing both peripheral leukocytosis and increased purulent secretions. Inflammatory mediators released by macrophages and the newly recruited neutrophils create an alveolar capillary leak equivalent to that seen in acute respiratory distress syndrome, although in pneumonia this leak is localized (at least initially). Even erythrocytes can cross the alveolar–capillary membrane, with consequent hemoptysis. The capillary leak results in a radiographic infiltrate and rales detectable on auscultation, and hypoxemia results from alveolar filling. Moreover, some bacterial pathogens appear to interfere with the hypoxemic vasoconstriction that would normally occur with fluidfilled alveoli, and this interference can result in severe hypoxemia. Increased respiratory drive in the systemic inflammatory response syndrome leads to respiratory alkalosis. Decreased compliance due to capillary leak, hypoxemia, increased respiratory drive, increased secretions, and occasionally infection-related bronchospasm all lead to dyspnea. If severe enough, the changes in lung mechanics secondary to reductions in lung volume and compliance and the intrapulmonary shunting of blood may cause respiratory failure and death. The presence of a normal alveolar microbiota raises the possibility of an alternative pathway for development of pneumonia. This microbiota is similar to the oropharyngeal microbiota; both are predominantly gram-positive in contrast to the gram-negative milieu of the normal gastrointestinal microbiota. Rather than invasion of a sterile lower respiratory tract by pathogens to cause pneumonia, alterations in host defense may allow overgrowth of one or more components of the normal bacterial flora, Epidemiology : More than 5 million CAP cases occur annually, incidence is 24.8 cases per 10, 000 adults with higher rates as age increases., poor, You can lower your chances of getting CAP by having a yearly flu shot. The pneumococcal vaccines protect against S. pneumoniae and may help in preventing CAP. Healthcare providers advise this shot for all people older than 65. You may need it before this time if you have : ,,Chronic heart, lung, liver, or kidney disease,Diabetes,Alcoholism,HIV,Weak immune system,Smokers and people living in long-term care facilities should also get this shot before age 65. There are two2vaccines against S. pneumoniae. Your healthcare provider may advise that you get both. You may need booster shots of the vaccine if you have your first pneumococcal vaccine before age 65 or if you have a weakened immune system.,,Practicing good hygiene can also help you lower your risk for CAP. That includes frequent handwashing., Complications : respiratory failure, shock, Coagulopathy, PLEURAL EFFUSION, MULTIORGAN FAILURE, LUNG ABSCESS, Diagnostics : CRP, Procalcitonin Assay, SPUTUM CULTURE, X RAY CHEST, Antibody Serology Tests, CT CHEST, BLOOD CULTURE, PCR, gram staining of sputum, URINARY ANTIGEN TESTS, Direct fluorescent antibody testing, Differential diagnosis : aspiration pneumonia, bronchitis, congestive heart failure (CHF), heart failure, Pulmonary Embolism, pulmonary fibrosis, Sarcoidosis, SYSTEMIC LUPUS ERYTHEMATOSUS, disease description : Community-acquired pneumonia (CAP) is one of the most common infectious diseases and an important cause of mortality and morbidity worldwide. Typical bacterial pathogens that cause CAP include Streptococcus pneumoniae, Haemophilus influenzae, and Moraxella catarrhalis. However, with the advent of novel diagnostic technologies, viral respiratory pathogens are increasingly being identified as frequent etiologies of CAP. The most common viral pathogens recovered from hospitalized patients admitted with CAP include human rhinovirus and influenza.

Compartment Syndrome

Disease Name : Compartment Syndrome, Treatment : Provide supplemental oxygen., Remove any restrictive casts, dressings, or bandages to relieve pressure.,Keep the extremity at the level of the heart to prevent hypo-perfusion.,Prevent hypotension and provide blood pressure support in patients with hypotension.,If ICP is greater than or equal to 30 mmHg or delta pressure is less than or equal to 30 mmHg, fasciotomy should be done., Pathophysiology : Acute compartment syndrome can occur with any condition that restricts the intra compartmental space or increases the fluid volume in the intracompartmental space. Acute compartment syndrome can occur without any precipitating trauma but typically occurs after a long bone fracture, with tibial fractures being the most common cause of the condition, followed by distal radius fractures. Seventy-five percent of cases of acute compartment syndrome are associated with fractures. After fractures, the most common cause of acute compartment syndrome is soft tissue injuries. Other causes of acute compartment syndrome include burns, vascular injuries, crush injuries, drug overdoses, reperfusion injuries, thrombosis, bleeding disorders, infections, improperly placed casts or splints, tight circumferential bandages, penetrating trauma, intense athletic activity, and poor positioning during surgery., Epidemiology : 7.3 per 100, 000 in males and 0.7 per 100, 000 in females, with the majority of cases occurring after trauma, 1 to 10 percent incidence, poor, Acute compartment syndrome - You can’t prevent acute compartment syndrome caused by an accident or injury. But you can seek early diagnosis and treatment to prevent complications.,,If you have a splint or cast that feels too tight, tell your healthcare provider. Pay particular attention if you’ve taken pain medication and that part of your body still hurts or swells. The cast or splint should get adjusted to prevent compartment syndrome.,,,,Chronic compartment syndrome - You can prevent exertional compartment syndrome by : ,,Building exercise endurance gradually, instead of doing too much too soon.,Changing your body positions when you exercise (for example, mixing up your gait when you run).,Improving flexibility.,Not overtraining your muscles.,Wearing proper shoes.,Working out on softer surfaces that are easier on your body., Complications : renal failure, Rhabdomyolysis, nerve compression, NERVE INJURY, contractures of tissue, Diagnostics : CPK, XRAY long bones, MRI, DOPPLER USG, COMPARTMENT PRESSURE MEASUREMENT, COMPARTMENT PRESSURE MEASUREMENT, PHYSICAL EXAMINATION, Differential diagnosis : CELLULITIS, deep venous thrombosis, GAS GANGRENE, Rhabdomyolysis, disease description : Acute compartment syndrome occurs when there is increased pressure within a closed osteofascial compartment, resulting in impaired local circulation. Acute compartment syndrome is considered a surgical emergency since, without proper treatment, it can lead to ischemia and eventually necrosis. Generally, acute compartment syndrome is considered a clinical diagnosis. However, intracompartmental pressure (ICP) > 30 mmHg can be used as a threshold to aid in diagnosis. The anterior compartment of the leg is the most common location for compartment syndrome. This compartment contains the extensor muscles of the toes, the tibialis anterior muscle, the deep peroneal nerve, and the tibial artery.

Complete Abortion

Disease Name : Complete Abortion, Treatment : medication : Tranexamic acid , Anti-D/ Rho (D) immunoglobulin, transvaginal ultrasonography,in rh negative women, anti-D gamma globulin 50 µg or 100 µg intramuscularly, The conventionally accepted regimen for medical management consists of misoprostol 800 mcg vaginally, with a repeated dose if needed any time from three hours to seven days after the first dose. Premedication with mifepristone 200 mg orally 24 hours before the first dose of misoprostol may result in a higher success rate than misoprostol alone., Surgical management consists of dilation and suction curettage with sharp curettage, as needed, in either the operating room or office setting. There is evidence that suction curettage alone, without sharp curettage, is sufficient and decreases the risk of intrauterine adhesions, as long as there is reasonable certainty that the uterus is empty., Pathophysiology : The pathophysiology of a spontaneous miscarriage may be suggested by its timing. Chromosomal defects are commonly seen in spontaneous miscarriages, especially those that occur during 4-8 weeks gestation. Genetic etiologies are common in early first-trimester loss but may be seen throughout gestation., Epidemiology : 73 per 1000 pregnancies and relatively increased by 28.1% among Indian women., up to about 20% in confirmed pregnancies., POOR, "Early, complete prenatal care is the best prevention for complications of pregnancy, such as miscarriage.,,Miscarriages that are caused by systemic diseases can be prevented by detecting and treating the disease before pregnancy occurs.,,Miscarriages are also less likely if you avoid things that are harmful to your pregnancy. These include x-rays, recreational drugs, alcohol, high caffeine intake, and infectious diseases.,,When a mothers body has difficulty keeping a pregnancy, signs such as slight vaginal bleeding may occur. This means there is a risk for miscarriage. But it does not mean one will definitely occur. A pregnant woman who develops any signs or symptoms of threatened miscarriage should contact her prenatal provider instantly.,,Taking a prenatal vitamin or folic acid supplement before you become pregnant can greatly lower the chances of miscarriage and certain birth defects.", Complications : bleeding, Septic Abortion, shock, Diagnostics : Beta HCG, TVS (Transvaginal ultrasound), USG Obstetrics, PHYSICAL EXAMINATION, Differential diagnosis : Cervicitis, ectopic gestation, disease description : When the products of conception are expelled en masse, it is called complete miscarriage..Complete abortion is defined as a ‘complete’ passage of all conception products.Recurrent abortion is defined as three or more consecutive pregnancy losses. Septic abortion can occur when retained products of conception become infected, which usually occurs in the setting of non-sterile induced abortion.

Complex Ii Deficiency

Disease Name : Complex Ii Deficiency, Treatment : nan, Pathophysiology : nan, Epidemiology : nan, Complications : nan, Diagnostics : nan, Differential diagnosis : nan, disease description : nan

Complex Regional Pain Syndrome

Disease Name : Complex Regional Pain Syndrome, Treatment : medication : Ketamine , Prednisolone, Physical and Occupational Therapy, Transcutaneous electrical nerve stimulation, Pathophysiology : Multiple pathophysiologic mechanisms have been described in the literature so far to explain CRPS. Scientific evidence does not point to a single principal mechanism. Therefore, the underlying mechanism seems to be multifactorial. Inflammatory, immunological, central, and peripheral sensitization, as well as autonomic changes, have been studied in CRPS .Inflammatory Changes : Both the clinical presentation and elevated inflammatory laboratory markers suggest that inflammation is a key mechanism underlying the development of CRPS. The basic signs of inflammation, such as increased temperature, swelling, redness, pain, and functional impairment, are commonly associated with CRPS. Elevated levels of pro-inflammatory cytokines such as TNF-a, Interleukin (IL)-1b, IL-2, and IL-6 have been found in both serum and cerebrospinal fluid of CRPS patients. Elevated levels of neuropeptides like calcitonin gene-related peptide (CGRP), bradykinin, and substance P released from peripheral nerve endings likely as a result of tissue injury in CRPS trigger neurogenic inflammation. Immunological Changes : Autoimmune factors seem to play a role in CRPS pathogenesis. Autoantibodies against beta-2-adrenergic receptor, alpha -1a-adrenergic receptor, and muscarinic-2 receptor have been found in CRPS. Goebel et al. noticed a significant improvement in pain following intravenous immunoglobulin treatment in CRPS patients. which further supports potential autoimmune pathophysiology ., Epidemiology : It is more common in females than males, with a ratio of 3.5 : 1, The European incidence rate of CRPS is 26/100 000 , poor, Since researchers don’t know the exact cause of CRPS, there’s no conclusive way to prevent it. Some studies have revealed that taking vitamin C before a future surgery might prevent CRPS., Complications : Adrenal Insufficiency, atrophy, dystonia, Irritable Bowel Syndrome, contractures of tissue, gastroparesis, Diagnostics : NERVE CONDUCTION VELOCITY(NCV), SEROLOGIC TEST, MRI, Differential diagnosis : arthritis, Multiple Sclerosis, poliomyelitis, porphyria, disease description : Complex Regional Pain Syndrome (CRPS) is a neuropathic pain disorder characterized by ongoing pain disproportionate to the degree of tissue injury and persists beyond the usual expected time for tissue healing. Pain is accompanied by sensory, motor, and autonomic abnormalities. Such abnormalities include allodynia, hyperalgesia, sudomotor and vasomotor abnormalities, and trophic changes. Pain does not follow a particular dermatome or myotome but is rather regional. This disabling condition often develops after a trauma, fracture, or surgery. But some spontaneous cases have also been reported.

Composite Haemangioendothelioma

Disease Name : Composite Haemangioendothelioma, Treatment : Local radiotherapy and chemotherapy for recurrent and metastatic disease have been used with some success., Because of the rarity of these tumors, the best therapeutic approach has not been established.,Surgical excision is often curative., Pathophysiology : Composite hemangioendotheliomas are formed by at least two histologically different vascular tumor components. These parts often resemble retiform or epithelioid  haemangioendothelioma , Epidemiology : Extremely rare with less than 10 cases reported, one in every one million people diagnosed with this cancer worldwide., poor, there is no way to prevent early detection of the tumor ., Complications : bleeding, ulceration, Diagnostics : biopsy, MRI, FDG-PET, Immunostaining, Differential diagnosis : ANGIOSARCOMA, Epithelioid haemangioendothelioma, kaposi sarcoma, Kaposiform haemangioendothelioma, Retiform haemangioendothelioma, disease description : Rare vascular neoplasms of intermediate biological potential.Tumor is characterized by a complex admixture of benign, low grade malignant and malignant vascular components. composite haemangioendothelioma are  locally aggressive and rarely metastasizing vascular tumors consisting of different and histologically distinct elements. 

Concomitant Strabismus

Disease Name : Concomitant Strabismus, Treatment : 1. Spectacles with full correction of refractive error,should be prescribed in every case. It will improve,the visual acuity and at times may correct the,squint partially or completely. 2. Occlusion therapy. It is indicated in the presence of,amblyopia., 4. Squint surgery. It is required in most of the cases,to correct the deviation., Pathophysiology : The physiology of ocular motility involves extraocular muscles, cranial nerves, supranuclear pathways, and their cerebral controls. All of these have been implicated in the development of strabismus. Following two theories are popular : Claude Worth theory states that an inherent absence of cortical fusional potential is the cause of strabismus.Chavasse theory states that motor alignment leads to a poor sensory status, which, if left untreated, leads to strabismus. This theory justifies early treatment for squint, which leads to sustained improvement in binocular single vision (BSV). Hence many surgeons justify doing early surgery in conditions like infantile esotropia.In relation to muscle innervation and action, the following two laws of ocular motility govern the extraocular motility : Sherrington law of reciprocal innervation : Increased innervation to a muscle is accompanied by decreased innervation to its antagonist. Exception : Duane retraction syndrome., Epidemiology : prevalence of strabismus is 2 to 5 percent in the general population, 0.14% to 5.65%, GOOD, Strabismus cannot be prevented. Complications can be prevented if detected early enough. At the minimum children should be screened for eye health before 6 months of age and again between 3-5 years., Complications : amblyopia, diplopia, Diagnostics : VISUAL ACUITY TEST, HISTORY TAKING, Cover-uncover test, Cover tests, Hirschberg corneal reflex test, Measurement of deviation with synoptophore, Worth’s four-dot test, Tests for fixation, Forced duction test (FDT), Prism bar test, Differential diagnosis : Constant exotropia, Ocular deviation, disease description : It is a type of manifest squint in which the amount of deviation in the squinting eye remains constant (unaltered) in all the directions of gaze; and there is no associated limitation of ocular movements. The causative factors differ in individual cases. As we know, the binocular vision and coordination of ocular movements are not present since birth but are acquired in the early childhood. The process starts by the age of 3–6 months and is completed up to 5–6 years. Therefore, any obstacle to the development of these processes may result in concomitant squint. These obstacles can be arranged into three groups, namely : sensory, motor and central. 

Conductive Hearing Loss

Disease Name : Conductive Hearing Loss, Treatment : Hearing aid. In cases, where surgery is not possible, ,refused or has failed., 1. Removal of canal obstructions, e.g. impacted wax, foreign body, osteoma or exostosis, keratotic mass, benign ,or malignant tumours, or meatal atresia.,2. Removal of fluid. Myringotomy with or without grommet ,insertion.,3. Removal of mass from middle ear. Tympanotomy and ,removal of small middle ear tumours or cholesteatoma ,behind intact tympanic membrane.,4. Stapedectomy, as in otosclerotic fixation of stapes ,footplate.,5. Tympanoplasty. Repair of perforation, ossicular chain or ,both., Pathophysiology : AVERAGE HEARING LOSS SEEN IN DIFFERENT LESIONS OF CONDUCTIVE APPARATUS 1. Complete obstruction of ear canal : 30 dB 2. Perforation of tympanic membrane (It varies and is directly proportional to the size of perforation) : 10–40 dB 3. Ossicular interruption with intact drum : 54 dB 4. Ossicular interruption with perforation : 38 dB 5. Malleus fixation : 10–25 dB 6. Closure of oval window : 60 dB, Epidemiology : poor, Complications : nan, Diagnostics : Rinne test, Audiometry, Speech Audiometry, WEBER TEST, Differential diagnosis : Acute Otitis Media, CHRONIC SUPPURATIVE OTITIS MEDIA(ATTICO ANTRAL), otosclerosis, Retracted Tympanic Membrane, serous otitis media, disease description : Any disease process which interferes with the conduction of sound to reach cochlea causes conductive hearing loss. The lesion may lie in the external ear and tympanic membrane, middle ear or ossicles up to stapediovestibular joint. The characteristics of conductive hearing loss are : 1. Negative Rinne test, i.e. BC > AC. 2. Weber lateralized to poorer ear. 3. Normal absolute bone conduction. 4. Low frequencies affected more. 5. Audiometry shows bone conduction better than air conduction with air-bone gap. Greater the air-bone gap, more is the conductive loss. 6. Loss is not more than 60 dB. 7. Speech discrimination is good.

Condylar Fractures Of The Femur

Disease Name : Condylar Fractures Of The Femur, Treatment : (a) Unicondylar fractures : If undisplaced, a long leg,cast is given for 3-6 weeks, followed by protected,weight bearing. If displaced, open reduction and,internal fixation with multiple cancellous screws,is performed. A buttress plate may be required in,some cases.,(b) Intercondylar fractures : open reduction and internal fixation. Condylar blade-plate, DCS and LCP are popular implants.,(c) Supracondylar fractures : internal fixation, Pathophysiology : The distal femur is defined as the region from the metaphyseal-diaphyseal junction to the articular surface of the knee, involving approximately the distal 15 cm of the femur. The shaft of the femur is a cylindrical shape and extends into two curved condyles at the distal end.  When viewed from the axial plane, the shape of the distal femur is trapezoidal.  The lateral cortex slopes at approximately 10 degrees, and the medial cortex slopes approximately 25 degrees.The medial condyle of the distal femur extends more distal than the lateral condyle. The posterior portions of both of these condyles extend more posterior than the posterior cortex of the diaphysis of the femur. The femoral shaft, representing the anatomic axis of the femur, averages about 6 to 7 degrees of valgus to the knee joint., Epidemiology : These fractures occur in a bimodal distribution : young males, particularly after high-energy motor trauma and elderly females. One study reported that 80% of patients 35 years of age or older with a distal femur fracture secondary to moderate trauma had evidence of generalized osteopenia., good, Unfortunately, you probably can’t control events that may cause you to break your femur. People break their femurs in car crashes, falls or being shot.,,,There are ways to prevent falls by people who are age 65 and older and more likely to be injured in a fall, including falling down while standing.,,If you are age 65 or older and concerned about falling, ask your healthcare provider to evaluate your risk for falling, including medications that may make you feel sleepy or dizzy. They’ll recommend steps you can take to reduce that risk. For example, they may recommend exercises that can strengthen your legs and improve balance., Complications : knee stiffness, Osteoarthritis, MALUNION OF FRACTURE, Diagnostics : X RAY AP VIEWS, CT, X RAY, x ray lateral view, Differential diagnosis : osteitis deformans, Osteoarthritis, disease description : Condylar fractures of the femur are of three types : (i) supracondylar fractures; (ii) intercondylar fractures – T or Y types; and (iii) unicondylar fractures – medial or lateral. These fractures commonly result from a direct trauma to the lower end of the femur. An indirect force more often results in unicondylar (by a varus/ valgus bending force) or supracondylar fracture (by a hyperextension force).

Condyloma Acuminatum

Disease Name : Condyloma Acuminatum, Treatment : medication : Imiquimod , Podophyllum resin/Podophyllum, Fluorouracil , Interferon Alpha, Benzoic acid, Surgical removal or laser ablation or diathermy loop excision., Pathophysiology : HPV is a double-stranded DNA virus that primarily infects the nucleus of differentiated squamous epithelial cells. The DNA virus can remain in a latent phase for several months, resulting in an incubation period of one month to two years. The genome of HPV contains oncogene, which encodes proteins that stimulate cell proliferation. These proteins enable the virus to replicate via the host cell’s DNA polymerase while the host cells undergo cell division. As the number of virally infected host cells grows, the basal, spinous, and granular layers of the epidermis thicken, leading to acanthosis and the macroscopic appearance of warts. Condyloma acuminata generally take three to four months to form. In otherwise healthy individuals, an adequate immune response can halt viral replication and resolve the infection over time. However, prolonged HPV infection increases the risk of developing malignant transformation., Epidemiology : 1.1 to 1.2 cases per 1000 person-years, 9 to 13 percent of the global population infected, good, To Do : STD...Advice to use condom, ,In case of pregnant women, LSCS is preferred to prevent papilloma laryngitis in neonate,PAP Smear to rule out CA Cervix,Biopsy mandatory,Improve body immunity with antioxidants such as,vitamin C and folic acid., No smoking.,VACCINATION-0, 1 and 6 months before exposure to sexual,activity in adolescent girls and boys are available.. Not To Do : Unprotected sex, Complications : anger, dysplasia and carcinoma in situ, liver carcinoma, ulceration, infertility, Vaginal cancer, Diagnostics : CD4 COUNT, PAP SMEAR, Colposcopy, biopsy, PCR, CYTOLOGY, TISSUE HISTOLOGY, Differential diagnosis : Condylomata lata, Lichen Planus, MALIGNANCY, Molluscum Contagiosum, psoriasis, Sebaceous cyst, disease description : Condyloma acuminata refers to anogenital warts caused by human papillomavirus (HPV). The most common strains of HPV that cause anogenital warts are 6 and 11. HPV is a double-stranded DNA virus primarily spread through sexual contact. Age, lifestyle, and sexual practices all play a role in ones susceptibility to developing condyloma acuminata.There are several topical treatment options available, including podophyllotoxin solutions and creams, imiquimod cream, and sinecatechins ointment. Cryotherapy, trichloroacetic acid solution, and several surgical modalities are also available treatments.

Congenital Adrenal Hyperplasia (cah)

Disease Name : Congenital Adrenal Hyperplasia (cah), Treatment : medication : Prednisolone, General principles in the treatment of CAH include : ,,Supply enough glucocorticoids to reduce hyperplasia and reduce the overproduction of androgens and mineralocorticoids.Provide replacement of mineralocorticoids and extra salt if deficient.Provide testosterone or estrogen replacement at puberty if deficient.Additional therapy, as needed, to optimize growth by delaying puberty or delaying bone maturation.,,Spironolactone should be avoided in salt-wasting CAH due to increased risk for dehydration.,,Patients with CAH require stress dose steroids in cases of significant trauma, surgery requiring general anesthesia, febrile illnesses, and gastroenteritis leading to dehydration; however, not for minor ailments, everyday stress, or exercise., "Surgery is not required for the majority of infants with mild forms of virilization. ,,Infants with ambiguous genitalia need a surgical consult for corrective surgery. The risks and benefits of early versus delayed operation should be carefully discussed with the childs parents by a multidisciplinary team of specialists involving the pediatric endocrinologist, urologist, surgeon, and anesthesiologist. Surgery should only be done in centers that specialize in genitoplasty. Surgery is only undertaken in a few selected infants and must be done by experienced surgeons.", Pathophysiology : The adrenal cortex is the site for steroidogenesis and produces three significant steroids–glucocorticoids in the form of cortisol which regulates the body’s metabolism and immune response; the mineralocorticoid, aldosterone which modulates electrolytes, blood pressure, and vascular volume and adrenal androgens, the sex hormones which regulate secondary sex characteristics in females. Cholesterol got from endogenous synthesis, or dietary sources are the precursor for steroid synthesis. The pathway for steroid synthesis is mediated by various enzymes, including 21-hydroxylase, 11-beta-hydroxylase, and 17-alpha-hydroxylase. 21-hydroxylase is crucial in the path leading to the production of all steroids because it is required for the conversion of 17 hydroxyprogesterone (17OHP) to 11-deoxycortisol (the precursor for cortisol) and also the conversion of progesterone to 11 deoxycorticosterone (the precursor of aldosterone) while 11-beta-hydroxylase is essential for the production of cortisol and the androgen, dehydroepiandrosterone (DHEA). Deficiency of either of these enzymes impairs production of the major steroids stimulating corticotropin mediated accumulation of cortisol precursors, causing a shift in steroid pathogenesis towards androgen production. Fetal androgen excess leads to various degrees of virilization at birth. CAH is associated with a defective gene. The most common gene defect in 95% of cases is on CYP21A2, which is the gene coding for 21-hydroxylase, which is found on 6p21.3 as part of the human leukocyte antigen (HLA) complex. Inefficiency produced by the specific alleles found in each patient introduces variability. Milder degrees of inefficiency lead to excessive sex hormone effects in childhood or adolescence. The mildest form interferes with ovulation and fertility in adults., Epidemiology : 1 : 15, 000 births worldwide, variable, You can’t prevent congenital adrenal hyperplasia (CAH) because it’s a genetic condition. If you have a family history of CAH or you already have a child with CAH, you may want to consider genetic counseling and/or genetic testing. You can learn about your risk of passing on the condition to your children., Complications : cataract, hyperglycemia, hypertension, obesity, infertility, Growth failure, Diagnostics : random blood sugar RBS, SERUM Sodium Na+, 17- hydroxy progesterone, Karyotype, USG Pelvis, serum potassium K+, GENETIC TESTING, URINE C/S, CT SCAN, Differential diagnosis : Adrenal hypoplasia congenita, androgen insensitivity syndrome, Bilateral Adrenal Hemorrhage, Congenital adrenal hyperplasia (CAH), Denys-Dash syndrome, Familial glucocorticoid deficiency, disease description : ?Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease emerging from mutations of genes for enzymes that lead to the biochemical steps of production of glucocorticoids, mineralocorticoids, or sex steroids from cholesterol by the adrenal glands. Most of these diseases involve the excessive or deficient production of sex steroids that can alter the development of primary or secondary sex characteristics in some affected infants, children, or adults. Sometimes, deficient production of mineralocorticoids can lead to severe salt-wasting, increasing neonatal morbidity, and mortality. Universal newborn screening for CAH, done in the U.S. and many developed countries, is recommended for early diagnosis and institution of therapy .

Congenital Bile Acid Synthesis Defect

Disease Name : Congenital Bile Acid Synthesis Defect, Treatment : medication : Chenodeoxycholic acid/ Chenodiol, Ursodeoxycholic Acid, Many affected individuals have dramatically responded to treatment by restoring one of the missing primary bile acids to the body (bile acid replacement therapy). This therapy involves the oral administration one of the two primary bile acids, cholic acid or chenodeoxycholic acid. Replacement of the missing bile acids has led to improvement or normalization of liver function in individuals with specific types of BASDs.,Treatment of BASDs is also symptomatic and supportive. For example, supplemental treatment with vitamins and nutrients is essential for individuals with malabsorption. Such treatment may include restoring vitamins A, D, E, and K., liver transplantation, Pathophysiology : Mutations in the HSD3B7 gene  cause congenital bile acid synthesis defect type 1. The HSD3B7 gene provides instructions for making an enzyme called 3 beta-hydroxysteroid dehydrogenase type 7 (3ß-HSD7). This enzyme is found in liver cells that produce bile acids. Bile acids are produced from cholesterol in a multi-step process. The 3ß-HSD7 enzyme is responsible for the second step in that process, which converts 7alpha(a)-hydroxycholesterol to 7a-hydroxy-4-cholesten-3-one.HSD3B7 gene mutations result in a 3ß-HSD7 enzyme with little or no function. Without enough functional 3ß-HSD7 enzyme, the conversion of 7a-hydroxycholesterol to 7a-hydroxy-4-cholesten-3-one is impaired. The 7a-hydroxycholesterol instead gets converted into abnormal bile acid compounds that cannot be transported out of the liver into the intestine, where the bile acids are needed to digest fats. As a result, cholesterol and other fats build up in the liver and fat-soluble vitamins are not absorbed, which contribute to the signs and symptoms of congenital bile acid synthesis defect type 1., Epidemiology : The prevalence of congenital bile acid synthesis defect type 1 is unknown; however, it is the most common of all the congenital defects of bile acid synthesis. Together, these conditions are thought to have a prevalence of 1 to 9 per million people., 1 to 9 per million people, variable, Stop smoking. Smoking increases the production of stomach acid and dries up saliva, which helps protect the esophagus.,Eat smaller meals. ...,Stay upright after eating. ...,Limit fatty foods. ...,Avoid problem foods and beverages. ...,Limit or avoid alcohol.,Lose excess weight. ,Raise your bed., Complications : CIRRHOSIS, Diagnostics : Complete Blood Count CBC, GGT (gamma-glutamyl transpeptidase), LIVER BIOPSY, LIVER FUNCTION TEST LFT, GENETIC TESTING, URINE C/S, molecular genetic testing, Differential diagnosis : EXTRAHEPATIC BILIARY ATRESIA, Idiopathic neonatal hepatitis, Smith-Lemli-Optiz syndrome, Zellweger spectrum disorders, disease description : Congenital bile acid synthesis defect type 1 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 1 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced.

Congenital Dacryocystitis

Disease Name : Congenital Dacryocystitis, Treatment : 1. Massage over the lacrimal sac area and topical,antibiotics constitute the mainstay of treatment,of congenital NLD block. 2. Lacrimal syringing (irrigation) with normal saline,and antibiotic solution., 1. Probing of NLD with Bowman’s probe, 2. Balloon catheter dilation, 3. Intubation with silicone tube, 4. Dacryocystorhinostomy (DCR) operation., Pathophysiology : It follows stasis of secretions in the lacrimal sac due to congenital blockage in the nasolacrimal duct. It is of very common occurrence. As many as 30% of newborn infants are believed to have closure of nasolacrimal duct at birth. • Membranous occlusion’ at its lower end, near the valve of Hasner is the commonest cause. • Other causes of congenital NLD block are : presence of epithelial debris, membranous occlusion at its upper end near lacrimal sac, complete noncanalisation and rarely bony occlusion. • Common bacteria associated with congenital dacryocystitis are Staphylococci, Pneumococci and Streptococci., Epidemiology : 19.5 cases per 10, 000 patients, GOOD, There’s nothing you can do to prevent most forms of dacryocystitis. However, you can try to avoid infections by practicing good hand washing methods and keeping your hands away from your eyes. You can also take care to avoid being in crowds or around people who are sick., Complications : chronic dacryocystitis, conjunctivitis, lacrimal abscess, fistulae formation, Diagnostics : ANTI NUCLEAR ANTI BODY(ANA), Bacterial Culture& Sensitivity Routine Aerobic, BLOOD CULTURE test, Complete Blood Count CBC, CT SCAN, USG, Regurgitation test, Fluorescein dye disappearance test (FDDT), Differential diagnosis : maxillary sinusitis, orbital cellulitis, disease description : Inflammation of the lacrimal sac is not an uncommon condition. It may occur in two forms : congenital and adult dacryocystitis.  It is an inflammation of the lacrimal sac occurring in newborn infants; and thus also known as dacryocystitis neonatorum . Congenital dacryocystocele is an uncommon consequence of congenital nasolacrimal duct obstruction : it is believed to occur as a result of a concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve . This causes accumulation of fluid in the drainage system : the sac is initially filled with mucoid material with a grey-blue cystic swelling just below the medial canthus.

Congenital Dislocation Of The Hip

Disease Name : Congenital Dislocation Of The Hip, Treatment : baby is younger than 6 months of age and diagnosed with CHD, it’s likely they’ll be fitted for a Pavlik harness., "REDUCTION-Closed manipulation, Traction followed by closed manipulation, Open reduction,MAINTAINENCE-Plaster cast, Splint,Acetabular reconstruction procedures-Salters osteotomy", Pathophysiology : Present evidence suggests that there are two distinct types of dysplastic hips; (i) those dislocated at birth (classic CDH); and (ii) those dislocatable after birth. The first are primarily due to a hereditary faulty development of the acetabulum, and are difficult to treat. The second are due to underlying joint laxity, with a precipitating factor causing the dislocation. Following changes are seen in a dislocated joint • Femoral head is dislocated upwards and laterally; its epiphysis is small and ossifies late. • Femoral neck is excessively anteverted. • Acetabulum is shallow, with a steep sloping roof. • Ligamentum teres is hypertrophied. • Fibro-cartilaginous labrum of the acetabulum (limbus) may be folded into the cavity of the acetabulum (inverted limbus). • Capsule of the hip joint is stretched. • Muscles around the hip, especially the adductors, undergo adaptive shortening., Epidemiology : 1 case per 1000 individuals, 1 case per 60 newborns, GOOD, You can’t prevent CHD. It’s important to bring your child to regular checkups so their doctor can identify and treat the condition as soon as possible. You may want to verify their doctor examined your newborn for signs of hip dislocation before you leave the hospital following delivery., Complications : infection, joint stiffness, Diagnostics : MRI, X RAY, CT SCAN, USG, plain radiograph, PHYSICAL EXAMINATION, Differential diagnosis : Coxa vara, FEMORAL NECK FRACTURE, disease description : This is a spontaneous dislocation of the hip occurring before, during or shortly after birth. In western countries, it is one of the commonest congenital disorder. It is uncommon in India and some other Asian countries, probably because of the culture of mother carrying the child on the side of her waist with the hips of the child abducted. This position helps in reduction of an unstable hip, which otherwise would have dislocated. 

Congenital Disorder Of Glycosylation / 1-deficient Glyco4 Syndromes

Disease Name : Congenital Disorder Of Glycosylation / 1-deficient Glyco4 Syndromes, Treatment : Individuals With PMM2-CDG Treated With Acetazolamide Showed Improvement On Standardized Evaluation Tests. It Was Clearly Effective For Improving Motor Cerebellar Functions. Larger Trials Are Underway. Acetazolamide Has Been Used Since The 1950’S And Is Approved For Use In Multiple Disorders Including Glaucoma And Epilepsy. Trials Are Also Planned For Another Drug, Epalrestat, Which Is Approved In Japan To Treat Diabetic Neuropathies. Some Reports Claim That Mannose Can Improve PMM2-CDG Transferrin And Clinical Features, However, This Not Accurate. Individuals With MPI-CDG Are Treated With Oral Mannose. This Therapy Bypasses The Underlying Genetic Defect In Glycosylation That Causes The Disorder., Pathophysiology : Over 130 types of CDG have been reported to date. Given the ubiquitous presence of glycosylation pathways, CDG are extremely diverse in their biochemical pathogenesis. Numerous proteins and lipids (i.e., sphingolipids and glycolipids) undergo glycosylation with monosaccharides and/or oligosaccharides, collectively termed glycans, in different cellular compartments. Their subcellular locations are diverse, but most defects occur within the ER or Golgi apparatus. Clinical features and genetic etiology of more common CDG by pathway is summarized in Table S1.Amongst proteins, glycans are described by their linkage to the polypeptide chain—N-glycans are attached to the amide group of asparagine (Asn) while O-glycans are attached to the hydroxyl group of either serine or threonine. N-glycan synthesis requires the stepwise construction of nucleotide-linked sugars in the cytosol, assembly in the endoplasmic reticulum, and processing in the Golgi apparatus. In contrast, O-glycan synthesis requires assembly but no processing, therefore O-glycosylation defects occur predominantly in the Golgi apparatus., Epidemiology : The prevalence of the most commonly diagnosed CDG, PMM2-CDG, ranges from 1/20, 000 in Dutch populations and 1/77, 000 in Estonia based on isolated reports., 5 : 100, 000 to 0.06 : 100, 000 births worldwide, variable, NA ., Complications : Epilepsy, myopathies, neurological disturbances, Cardiac Complications, Diagnostics : LIVER FUNCTION TEST LFT, Gas chromatography Mass spectrometry (GC-MS), Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS), molecular genetic testing, Differential diagnosis : Ataxia, congenital coagulation disorders, congenital muscle disorders (myopathies), Prader-Willi syndrome, disease description : Glycosylation Involves Many Different Genes, Encoding Many Different Proteins Such As Enzymes. A Deficiency Or Lack Of One Of These Enzymes Can Lead To A Variety Of Symptoms Potentially Affecting Multiple Organ Systems. CDG Can Affect Any Part Of The Body And There Is Nearly Always An Important Neurological Component. CDG Can Be Associated With A Broad Variety Of Symptoms And Can Vary In Severity From Mild To Severe, Disabling Or Life-Threatening. CDG Are Usually Apparent From Infancy. Individual CDG Are Caused By Changes (Mutations) In A Specific Gene. Most CDG Are Inherited As Autosomal Recessive Conditions, But Some Are X-Linked Or Dominant. Others May Arise Spontaneously (De Novo).

Congenital Disorder Of Glycosylation / Carbohydrate-deficient Glycoprotein Syndromes

Disease Name : Congenital Disorder Of Glycosylation / Carbohydrate-deficient Glycoprotein Syndromes , Treatment : nan, Pathophysiology : nan, Epidemiology : nan, Complications : nan, Diagnostics : Protein, Differential diagnosis : nan, disease description : The CDG syndromes are a family of genetic disorders characterized by a deficiency of the glycan moiety of glycoproteins. Only defects in N-glycan synthesis have been characterized in CDG syndromes to date. The synthesis of N-glycans occurs over three cellular compartments : a cytosolic compartment, the endoplasmic reticulum (ER) and the Golgi apparatus. Some forty (enzymatic and transport) steps are involved. The first part of this pathway comprises the synthesis of guanosine diphosphate (GDP)-mannose from fructose 6-phosphate, an intermediate of the glycolytic pathway. On the cytoplasmic side and subsequently on the lumenal side of the ER a dolichyl-pyrophosphate oligosaccharide (Dol-pyrophosphate-GlcNAc2-Man9-Glc3) precursor is gradually assembled. Subsequently, the oligosaccharide moiety is transferred to selected asparagines of nascent proteins by the oligosaccharyltransferase complex. 

Congenital Disorders Of Pinna

Disease Name : Congenital Disorders Of Pinna, Treatment : REPAIR OF THE DEFECT, Treatment of ear abnormalities can include surgery and a bone-conduction hearing aid, depending on whether the malformation is unilateral or bilateral; whether it affects hearing, learning, and social development; and whether complications (eg, facial nerve involvement, cholesteatoma, otitis media) are present. Surgery may include pinna reconstruction and the creation of an external auditory canal, tympanic membrane, and ossicles., Pathophysiology : Anotia. It is complete absence of pinna and lobule, and usually forms part of the first arch syndrome.Microtia. It is a major developmental anomaly. Degree of microtia may vary. It is frequently associated with anomalies of external auditory canal, middle and internal ear. The condition may be unilateral or bilateral. Hearing loss is frequent. Peanut ear is a form of microtia.Macrotia. It is excessively large pinna. Bat ear (Syn. Prominent Ear or Protruding Ear). This is an abnormally protruding ear. The concha is large with poorly developed antihelix and scapha. The deformity can be corrected surgically any time after the age of 6 years, if cosmetic appearance so demands. 5. Cup Ear or Lop Ear. It is hypoplasia of upper third of the auricle. Upper portion of helix or pinna is cupped. Cockle-shell ear or snail-shell ear are greater deformities of cup ear. Cryptotia (Syn. Pocket Ear). Upper third of the auricle is embedded under the scalp skin. It can be corrected by mobilizing the pinna to normal position and covering the raw area by a skin graft. Coloboma. There is a transverse cleft in the pinna in the middle. Minor Deformities. Absence of tragus, Darwin’s tubercle, additional folds (Stahl’s ear), and Satyr ear. • Darwin’s tubercle is a pointed tubercle on the upper part of helix and represents apex of pinna of lower animals. • In Stahl’s ear, helix which should normally be folded is flat and the upper crus of antihelix is duplicated and reaches rim of helix. It can be corrected by a mould in the first 6 weeks of life. Deformities of Ear Lobule. They are absence of lobule, large lobule, bifid lobule or a pixed (attached) lobule. Preauricular Tags or Appendages. They are skin-covered tags that appear on a line drawn from the tragus to the angle of mouth. They may contain small pieces of cartilage.Preauricular Pit or Sinus. Preauricular pit is a depression in front of the crus of helix or above the tragus. Preauricular sinus is an epithelial track and is due to incomplete fusion of tubercles. It may get repeatedly infected causing purulent discharge. Abscess may also form. Treatment is surgical excision of the track if the sinus gets repeatedly infected., Epidemiology : n 1 in 3000 to 1 in 20 000 births., GOOD, Most of the time, no treatment is needed for pinna abnormalities because they do not affect hearing., Complications : dental problem, hearing loss & deafness, Diagnostics : Pure tone audiometry (PTA), GENETIC TESTING, CT SCAN, PHYSICAL EXAMINATION, Differential diagnosis : Down syndrome, Turners syndrome, disease description : The pinna may be afflicted by congenital, traumatic, inflammatory or neoplastic disorders. CONGENITAL DISORDERS The developmental abnormalities of the pinna may be just minor variations from the normal or major abnormalities.

Congenital Erosive And Vesicular Dermatosis Heali

Disease Name : Congenital Erosive And Vesicular Dermatosis Heali, Treatment : The child will need to be nursed on an appropriate neonatal unit ,for the management of fl uid balance, temperature control and any ,infection if this develops. Non-adhesive dressings (e.g. silicon ,dressings) will be needed for the first few weeks of life until healing occurs. There is no specifi c treatment for this, Pathophysiology : Pathology Biopsies of vesicular areas have shown spongiosis or epidermal necrosis with dermal haemorrhage and infl ammation. In one report, an eroded area showed loss of the epidermis with a superfi cial and deep dermal infl ammatory infi ltrate comprising mostly neutrophils . Parakeratotic scale may be present. Scarred areas have shown an increased density of dermal collagen, and absence of eccrine sweat glands. Direct immunofl uorescence does not show any specifi c pattern of deposition of immunoglobulins, C3 or fi brin. Electron microscopy and immunohistochemical mapping of perilesional skin have shown nothing to suggest that this is a variant of epidermolysis bullosa, Epidemiology : It is very rare. Twenty-eight cases have been repo, Spontaneous healing occurs within 2 weeks to 3 mon, Complications : nan, Diagnostics : biopsy, Microbiological skin swabs, Differential diagnosis : Epidermolysis bullosa, Staphylococcal scalded skin syndrome, disease description : Congenital erosive and vesicular dermatosis healing with reticulated supple scarring is a rare cause of blistering at birth. This is a rare self-limiting blistering disorder of unknown aetiology first described in 1985 by Cohene. It occurs at birth and the majority of affected infants have been premature. Sex Occurrence is greater in boys than in girls.

Congenital Erythropoietic Porphyria

Disease Name : Congenital Erythropoietic Porphyria, Treatment : allogeneic bone marrow transplantation,(bone marrow or umbilical cord blood stem cells) from an,HLA-compatible donor has emerged as the treatment of choice,in severe CEP., Pathophysiology : CEP is one of a group of disorders known as the porphyrias. Each porphyria is characterized by abnormally high levels of particular chemicals (porphyrins) in the body due to deficiencies of certain enzymes in the step-wise synthesis of heme, the essential component of hemoglobin and various hemo-proteins. The porphyrias can be classified as cutaneous or acute, depending on their respective manifestations There are eight major porphyrias. The symptoms associated with the various types of porphyria differ, depending upon the specific enzyme that is deficient. People who have one type of porphyria do not develop the other types, although very rarely, patients may have two different porphyrias. , Epidemiology : Over 200 cases have been reported worldwide., the incidence in Europe is 0.007 per year per 10 m, variable, Because genetic mutations cause most types of porphyria, the disorder can’t be prevented. However, you can avoid triggers that may cause symptoms. These triggers include smoking, alcohol consumption, and exposure to sunlight. Drugs that may need to be avoided include barbiturates, tranquilizers, birth control pills, and sedatives., Complications : Blistering, Scarring, Diagnostics : Complete Blood Count CBC, Urine analysis, skin lesion biopsy, molecular genetic testing, Differential diagnosis : haemolytic anaemia, hemolysis, disease description : This is a severe and rare childhood porphyria causing lifelong mutilating photosensitivity and haematological disease. Congenital erythropoietic porphyria (CEP) is caused by an autosomal recessive inherited deficiency of the uroporphyrinogen III cosynthase enzyme. Since this enzyme is required to form the biologically useful type III porphyrin isomers, its absence results in non-enzymatic reactions producing large amounts of type I isomer porphyrins which cannot participate in haem formation, and which massively accumulate in erythroid cells and then gradually leak into the plasma.

Congenital Glaucoma

Disease Name : Congenital Glaucoma, Treatment : medication : Acetazolamide, Medications are not very effective and so treatment of,congenital glaucoma is primarily surgical However, ,IOP must be lowered by medical treatment with,hyperosmotic agents, acetazolamide and betablockers,till surgery is taken up. Miotics are not used,in such cases because they paradoxically increase,IOP. Alpha-2 agonist (brimonidine) causes CNS,depression in children and is contraindicated, I. Incisional angle surgery(Goniotomy, Trabeculotomy), II. Filteration surgery(Trabeculectomy, Combined trabeculotomy and trabeculectomy), III. Glaucoma drainage devices (GDD) are required in,incalcitrant cases., Pathophysiology : The main pathophysiology is the defect in the trabecular meshwork development and the anterior chamber angle. This hampers the aqueous outflow through the anterior chamber, thus leading to increased intraocular pressures. Another theory given by Barkan, which was later disproved, was the presence of an imperforate membrane at the angle of the anterior chamber, which was proposed to impede the aqueous outflow.Presently, the most accepted theory is that proposed by Anderson, which states that excessive collagen meshwork within the trabeculum prevents normal insertion of the ciliary body and iris.This results in anteriorly inserted iris root resulting in obstruction of the trabecular meshwork, thus resulting in elevated intraocular pressures., Epidemiology : 1 child in 10, 000 births., higher incidence in particular countries and ethnic groups, poor, Even though congenital glaucoma cannot be fully prevented, complete vision loss could be prevented when diagnosed early. Some of the best ways to ensure we catch congenital glaucoma early are,,To have eye checkups often,To be aware of your family’s medical history, Complications : CORNEAL OPACITIES, RETINAL DETACHMENT, Hyphema, Iridocyclitis, Diagnostics : GONIOSCOPY, Slit lamp examination, TONOMETRY TEST, GENETIC TESTING, ophthalmoscopy, Differential diagnosis : ANIRIDIA, Coloboma of the Lid, Congenital Hereditary Endothelial Dystrophy, CONJUNCTIVAL DERMOIDS, corneal abrasions, Fuchs Endothelial Corneal Dystrophy, interstitial keratitis, RETINOBLASTOMA, disease description : The congenital glaucomas are a group of diverse disorders in which abnormal high intraocular pressure results due to developmental abnormalities of the angle of anterior chamber obstructing the drainage of aqueous humour. Sometimes, glaucoma may not occur until several years after birth; therefore, the term developmental glaucoma is preferred to describe such disorders. Types 1. Primary developmental/congenital glaucoma. 2. Developmental glaucoma with associated congenital ocular anomalies. 3. Developmental glaucoma with associated systemic anomalies. Primary congenital glaucoma (PCG) refers to abnormally high IOP which results due to developmental anomaly of the angle of the anterior chamber, not associated with any other ocular or systemic anomaly.

Congenital Haemodisplasia With Ichthyosis Form Navous And Limb Defect

Disease Name : Congenital Haemodisplasia With Ichthyosis Form Navous And Limb Defect, Treatment : medication : Isotretinoin, Genetic counseling may be helpful to families of patients with CHILD syndrome., Skin (dermatologic) symptoms of CHILD syndrome are treated by applying skin softening (emollient) ointments, preferably plain petroleum jelly. This can be especially effective after bathing while the skin is still moist. Salicylic acid gel is another particularly effective ointment. The skin should be covered at night with an airtight, waterproof dressing when this ointment is used. Lactate lotion can also be an effective treatment for the skin symptoms of this disorder., Pathophysiology : Mutations in the NSDHL gene  cause CHILD syndrome. This gene provides instructions for making an enzyme that is involved in the production of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals, particularly egg yolks, meat, fish, and dairy products. Although high cholesterol levels are a well-known risk factor for heart disease, the body needs some cholesterol to develop and function normally both before and after birth. Cholesterol is an important component of cell membranes and the protective substance covering nerve cells (myelin).Additionally, cholesterol plays a role in the production of certain hormones and digestive acids.The mutations that underlie CHILD syndrome eliminate the activity of the NSDHL enzyme, which disrupts the normal production of cholesterol within cells. A shortage of this enzyme may also allow potentially toxic byproducts of cholesterol production to build up in the bodys tissues. Researchers suspect that low cholesterol levels and/or an accumulation of other substances disrupt the growth and development of many parts of the body. It is not known, however, how a disturbance in cholesterol production leads to the specific features of CHILD syndrome., Epidemiology : CHILD syndrome is a rare disorder; it has been reported in about 60 people worldwide. This condition occurs almost exclusively in females., Not To Do : NSDHL, Complications : neurological disturbances, lung damage, heart problem, Thyroid disorders, Diagnostics : 2-D Echo, molecular genetic testing, Differential diagnosis : nan, disease description : Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. ("Hemi-" means "half, " and "dysplasia" refers to abnormal growth.) The right side is affected about twice as often as the left side.People with CHILD syndrome have a skin condition characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis). This condition is most likely to occur in skin folds and creases and usually does not affect the face. The skin abnormalities are present at birth and persist throughout life.

Congenital Hereditary Endothelial Dystrophy 2

Disease Name : Congenital Hereditary Endothelial Dystrophy 2, Treatment : Descemet stripping automated endothelial keratoplasty (DSAEK) and Descemet membrane endothelial keratoplasty (DMEK)., Pathophysiology : nan, Epidemiology : 3.11/100, 000 newborns, poor, "CHED exhibits autosomal recessive inheritance, and therefore it cant be prevented. Although Genetic counselling is advisable.", Complications : amblyopia, visual disturbances, Diagnostics : Slit lamp examination, VISUAL ACUITY TEST, GENETIC TESTING, Differential diagnosis : bacterial keratitis, dermoid cyst, HERPES SIMPLEX KERATITIS, Mucopolysaccharidosis, Peters anomaly, disease description : Congenital hereditary endothelial dystrophy 2 (CHED2) also called as Maumenee corneal dystrophy occurs congenitally and is a relatively stationary condition. Genetic locus is 20p 13 (telomeric portion) and the gene involved is solute carrier family 4, sodium borate transporter, member 11—SLC4A 11. Inheritance is autosomal recessive. Signs and symptoms are similar to CHED 1 except : • The condition is more common and severe than CHED 1. • Nystagmus is often associated.

Congenital Hereditary Endothelial Dystrophy

Disease Name : Congenital Hereditary Endothelial Dystrophy, Treatment : The definitive treatment for congenital hereditary endothelial dystrophy is currently surgical, either by penetrating keratoplasty (PK) or endothelial keratoplasty (EK). PK is a full-thickness graft and has traditionally been the mainstay of treatment., Pathophysiology : Congenital hereditary endothelial dystrophy manifests in the neonatal period as corneal edema and opacification. Edema can result in 2 to 3 times the normal corneal thickness.Corneal endothelium prevents stromal edema by countering osmotically driven fluid from the aqueous humor into the stromal collagen. The SLC4A11 gene is active in corneal endothelium, and codes for bicarbonate transporter-related protein-1 (BTR1) that acts as a sodium-borate cotransporter to relieve excess water from the stroma. In CHED, BTR-1 is dysfunctional and often fails to reach the plasma membrane to perform its purpose .Histopathologically, corneal opacification due to diffuse epithelial and stromal edema and thickening of Descemets membrane due to abnormal endothelial secretion are noted. Sparse, fibrotic endothelial cells are also observed , Epidemiology : 7.33%., 6/100, 000 newborns and 3/100, 000 when Congenital Glaucoma patients are excluded., variable, recommended that patients with a positive family history be offered genetic counseling, Complications : amblyopia, Trauma, Diagnostics : Slit lamp examination, Differential diagnosis : bacterial keratitis, Dermoids, HERPES SIMPLEX KERATITIS, disease description : Congenital hereditary endothelial dystrophy 1 (CHED 1 ) occurs in first or second year of life, occasionally congenital. Progression of corneal clouding occurs over 1–10 years. Genetic Locus is 20p 1 1.2 q 1–1.2 (pericentromeric region) and gene is unknown. Inheritance is autosomal dominant.

Congenital Hyperthyroidism

Disease Name : Congenital Hyperthyroidism, Treatment : medication : Propranolol , Lugols solution (5% Iodine + 10% Potassium iodide), Thiamazole (Methimazole), Therapy consists of methimazole (0.5-1.0 mg/kg/24 hr,given every 12 hr) and oral or intravenous administration of a nonselective ß-,adrenergic blocker such as propranolol to decreases sympathetic hyperactivity.,In refractory cases, Lugol solution or potassium iodide (1-2 drops per day) can,be added. The first dose of iodide should be given at least 1 hr after the 1st dose,of ATD to prevent the iodide from being used for further thyroid hormone,synthesis. If thyrotoxicosis is severe and progresses to heart failure, parenteral,fluid therapy, corticosteroids, and digitalization may be indicated. Once serum,thyroid hormone levels begin to decrease, antithyroid medications should be,gradually tapered to keep the infant euthyroid., Pathophysiology : Neonatal Graves disease is caused by transplacental passage of TRSAbs from mothers with a history of Graves disease. These mothers can have active Graves disease, Graves disease in remission, or a prior history of Graves disease treated with radioiodine ablation or thyroidectomy. Occasionally, there is a maternal history of chronic lymphocytic thyroiditis with hypothyroidism. High levels of TRSAb typically result in classic neonatal hyperthyroidism, but if the mother has been treated with ATDs, the onset of hyperthyroid symptoms may be delayed by 3-7 days until the ATD is metabolized by the neonate. If TRBAbs are also present, the onset of hyperthyroidism may also be delayed for several weeks, or neonatal hypothyroidism may even develop. Neonatal hyperthyroidism occurs in approximately 2% of infants born to mothers with a history of Graves disease. In utero, fetal tachycardia and goiter may suggest the diagnosis, and close ultrasound surveillance is recommended in mothers with uncontrolled hyperthyroidism, particularly in the 3rd trimester. Elevated serum titers of TRSAb (more than 3 times the upper limit of normal) or a history of a prior child with neonatal thyroid dysfunction increases the likelihood of neonatal Graves disease. Neonatal Graves disease typically remits spontaneously within 6-12 wk but can persist longer, depending on the titer and rate of clearance of the TRSAbs (and TRBAbs, if present). Rarely, classic neonatal Graves disease may not remit but persist for several yr or longer. These children typically have a family history of Graves disease. In these infants, the transfer of maternal TRSAbs exacerbates the infantile onset of autonomous Graves disease. Clinical Manifestations Many infants born with neonatal Graves disease are premature and have intrauterine growth restriction. Many infants also have goiter, and occasionally tracheal compression can occur if the goiter is very large. Other signs and symptoms of neonatal Graves disease include low birth weight, stare, periorbital edema, retraction of the eyelids, hyperthermia, irritability, diarrhea, feeding difficulties, poor weight gain, tachycardia, heart failure, hypertension, hepatomegaly, splenomegaly, cholestasis, jaundice, thrombocytopenia, and hyperviscosity. Laboratory evaluation shows suppressed serum TSH and elevated serum levels of T4 , free T4, and T3 . TRSAbs are markedly elevated at birth and typically resolve within 3 mo of life. If symptoms and signs are not immediately recognized and treated, cardiac failure and death can occur. Craniosynostosis and developmental delay can be permanent sequelae of the hyperthyroidism., Epidemiology : 1 in 727 to 1 in 2 640., GOOD, Some factors that could increase your risk of developing hyperthyroidism can include : ,,Having a family history of thyroid disease.,Having a medical history that includes conditions like pernicious anemia, Type 1 diabetes and primary adrenal insufficiency (Addison’s disease).,Having a lot of iodine (a mineral that your body uses to make thyroid hormones) in your diet.,Being pregnant., Complications : developmental delay, heart failure, Craniosynostosis, Diagnostics : Free T4, Triiodothyronine (T3) Tests, Thyroid Stimulating Hormone TSH, USG Thyroid, GENETIC TESTING, TRSAbs, Differential diagnosis : McCune-Albright Syndrome, disease description : Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.

Congenital Hypoplastic Anemia

Disease Name : Congenital Hypoplastic Anemia, Treatment : medication : Prednisolone, Corticosteroids are the first-line treatment, Pathophysiology : Diamond Blackfan anemia is caused by changes (mutations) in ribosomal protein genes in about 80-85% of those affected. In the remaining 10-15% of patients, no abnormal genes have yet been identified.A mutation in the RPS19 gene is the cause of DBA in about 25% of patients. Mutations have also been found in RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS24, and RPS26, and rarely in RPL15, RPL17, RPL19, RPL26, RPL27, RPL31, RPS15A, RPS20, RPS27, RPS28, RPS29,  and TSR2. In a few patients, the disease is caused by a mutation in the GATA1 gene.DBA caused by the ribosomal protein gene mutation follows autosomal dominant inheritance. Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular disease. The non-working gene can be inherited from either parent or can be the result of a mutated (changed) gene in the affected individual only. In approximately 45% of patients, the mutation is inherited from one affected parent. The remaining patients have no history of the disorder in their family, and develop the disorder because of a new (sporadic) gene mutation. The risk of passing the non-working gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females. The rare TSR2 and GATA1 gene mutations are inherited in affected males only from a mother who is an unaffected carrier., Epidemiology : 1 in 500000 live births, Complications : hematologic abnormalities, Solid tumours, cancer, organ failure, Diagnostics : nan, Differential diagnosis : Cartilage hair hypoplasia, fanconi anaemia, genetic disorders, disease description : congenital Hypoplastic Anemia also known as Diamond Blackfan anemia (DBA) is a rare blood disorder that affects the bone marrow. The function of the bone marrow is to make new blood cells, including red blood cells (which carry oxygen to the body’s tissues), white blood cells (which help the body fight infections), and platelets (which help the body stop bleeding). In DBA the bone marrow cannot make enough red blood cells to meet the body’s needs. DBA is characterized by a shortage of red blood cells which usually becomes evident during the first year of life when the patient develops anemia. About half of the affected patients have abnormal physical abnormalities associated with DBA. The symptoms and physical findings associated with DBA vary greatly from person to person.

Congenital Hypothyroidism

Disease Name : Congenital Hypothyroidism, Treatment : medication : Levothyroxine/Tetra idothyronine, Thyroid replacement should be started immediately after diagnosis., Pathophysiology : In infants with primary congenital hypothyroidism (CH), hypofunction of the thyroid gland typically causes low T4 and T3 levels, with elevated TSH and TRH levels due to feedback mechanism to the hypothalamus and pituitary gland. In compensated or subclinical hypothyroidism, serum T4 remains normal, while the TSH level is elevated. Infants with central hypothyroidism have low T4 or free T4, with low or low-normal TSH levels. TSH is the most sensitive indicator of thyroid dysfunction and the HPT axis. Additionally, patients with TBG deficiency present with a low total T4 and normal TSH. They are likely euthyroid. However, a free T4 and a TBG level should be added to confirm their thyroid status ., Epidemiology : 1 in 3, 000 to 1 in 4, 000 live births, 1 in 2, 000 infants worldwide, GOOD, Congenital hypothyroidism is typically seen in developing countries where iodine deficiency is common. Adults can prevent iodine deficiency by getting the Institute of Medicine’s recommended dietary allowance (RDA) of 150 micrograms of iodine per day. One teaspoon of iodized salt contains about 400 micrograms of iodine.,,Because an iodine deficiency in pregnancy can be dangerous to the growing baby, pregnant women are advised to get 220 micrograms of iodine daily. The American Thyroid Association recommends that all women who are pregnant or breastfeeding take a prenatal vitamin containing at least 150 micrograms of iodine each day., Complications : growth retardation in children, Congenital disorders, mental retardation, SENSORINEURAL HEARING LOSS, Diagnostics : Free T4, Triiodothyronine (T3) Tests, Thyroxine (T4) Test, Thyroid Stimulating Hormone TSH, USG Thyroid, X Ray skull, GENETIC TESTING, plain radiograph, Differential diagnosis : Down syndrome, disease description : Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency present at birth. CH must be diagnosed promptly because delay in treatment can lead to irreversible neurological deficits. Before the newborn screening program, CH was one of the most common preventable causes of intellectual disability. Newborn screening (NBS) programs have led to earlier diagnosis and treatment of CH, resulting in improved neurodevelopmental outcomes.The thyroid hormone plays an essential role in energy metabolism, growth, and neurodevelopment. Specifically, the thyroid hormone acts on neuronal differentiation, synapsis development, and myelination in the prenatal and newborn periods, regulating central nervous system development.

Congenital Lactase Deficiency

Disease Name : Congenital Lactase Deficiency, Treatment : "milk-free diet, A lactose-free,formula (based on either soy or cows milk) can be used in infants. Hard cheeses and,cottage cheeses have a small amount of lactose and are generally", Pathophysiology : The lactase enzyme is located in the brush border of the small intestinal mucosa. Deficiency of lactase results in the presence of unabsorbed lactose within the bowel. This results in an influx of fluid into the bowel lumen resulting in osmotic diarrhea. Colonic bacteria ferment the unabsorbed lactose-producing gas (hydrogen, carbon dioxide, and methane), which hydrolyzes lactose into monosaccharides. This results in an additional influx of fluid within the lumen. The overall effect of these mechanisms results in various abdominal signs and symptoms.An association has been reported between certain single nucleotide polymorphisms with lactose tolerance in a northeastern Brazilian population. In Indo-Europe, lactose intolerance is linked with rs4982235 SNP (or -13910C>T)., Epidemiology : The prevalence of lactose intolerance is variable among different ethnicities. It is most common in African Americans, , "Lactose intolerance is a common disease; however, it is rare in children younger than 5. It is most often seen in adolescents and young adults. On average, 65% of the worlds population is lactose intolerant", good, Secondary lactose intolerance caused by damage to your small intestine might be reversible after your small intestine recovers. This will depend on how permanent the damage is. It may also take some time. Babies born prematurely who have developmental lactose intolerance usually grow out of it.,,If you have primary or congenital lactose intolerance, you won’t ever start naturally producing more lactase. But it’s possible your symptoms could change if your intestinal health or microbiome changes. In theory, your tolerance might improve a little, or you might notice your symptoms a little less., Complications : osteopenia, Osteoporosis, RICKETS, Malnutrition, weight loss, Growth failure, Diagnostics : Blood Glucose test, Fecal Occult Blood Test (FOBT), Small Bowel Biopsy, GENETIC TESTING, PHYSICAL EXAMINATION, Genotyping, Differential diagnosis : Bacterial infection, CELIAC DISEASE, CYSTIC FIBROSIS, Diverticular disease, Excessive ingestion of laxatives, gastrinoma, giardiasis, INFLAMMATORY BOWEL DISEASES, Irritable Bowel Syndrome, Tropical Sprue, viral gastroenteritis, disease description : ?Lactose intolerance is a clinical syndrome that manifests with characteristic signs and symptoms upon consuming food substances containing lactose, a disaccharide. Normally upon lactose consumption, it is hydrolyzed into glucose and galactose by the lactase enzyme, which is found in the small intestinal brush border. Deficiency of lactase due to primary or secondary causes results in clinical symptoms. Disease severity varies among individuals. Lactose is present in dairy, milk products, and mammalian milk. It is also sometimes referred to as lactose malabsorption.

Congenital Lipoid Adrenal Hyperplasia

Disease Name : Congenital Lipoid Adrenal Hyperplasia, Treatment : medication : Fludrocortisone , Hydrocortisone , Sodium chloride , TESTOSTERONE UNDECANOATE, ESTROGEN, Orchidopexy or,removal of,intraabdominal,testes, Pathophysiology : Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders of cortisol biosynthesis. In this there is defect in STAR 8p11.2 gene. Cortisol deficiency increases secretion of corticotropin (adrenocorticotropic hormone ACTH), which, in turn, leads to adrenocortical hyperplasia and overproduction of intermediate metabolites., Epidemiology : as high as 1 in 282 individuals., 1 in 300, 000, variable, You can’t prevent congenital adrenal hyperplasia (CAH) because it’s a genetic condition. If you have a family history of CAH or you already have a child with CAH, you may want to consider genetic counseling and/or genetic testing. You can learn about your risk of passing on the condition to your children., Complications : Impaired mineralization, Diagnostics : ACTH, Cortisol, ESTRADIOL, Follicle Stimulating Hormone FSH, Luteinising Hormone LH, SERUM Sodium Na+, TESTOSTERONE TEST, Plasma Aldosterone, Plasma Renin, serum potassium K+, GENETIC TESTING, CT SCAN, ADRENAL FUNCTION TEST, Differential diagnosis : Adrenal Insufficiency, Congenital adrenal hyperplasia(late onset), disease description : Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46, XY genetic males are phenotypic females due to disrupted testicular androgen secretion. 

Congenital Muscular Dystrophy

Disease Name : Congenital Muscular Dystrophy, Treatment : medication : Cyclosporine/Ciclosporine, CONSERVATIVE AND SUPPORTIVE THERAPY, These patients require surgical intervention for other comorbidities like scoliosis due to prolonged immobility, placement of feeding gastrostomy, or gastrojejunostomy tube to keep up with nutritional requirements., Pathophysiology : The deletion or malformation of specific proteins secondary to inherited or de-novo mutations results in abnormal protein structure or function and thereby causing muscle weakness. The common forms of congenital muscular dystrophies result from alterations in plasma membrane surface proteins or those forming a part of the membrane-extracellular matrix interface. The discovery of merosin, which is an extracellular matrix protein, leads to the classification of the disease into merosin positive and merosin negative forms. The merosin negative form was associated with marked motor disability, high creatine kinase levels, and relatively normal IQ scores. However, the merosin negative patients were associated with abnormal MRI white matter findings with sparing of basal ganglia.The major categories of congenital muscular dystrophies based on the proteins affected areCollagen type VI related – Ulrich (severe variant) and Bethlehem (milder) myopathyMerosin related – this includes patients with a mutation in laminin alpha 2 protein which is merosin deficientAlpha dystroglycan related – including walker Warburg, muscle eye brain and Fukuyama myopathy (Fukutin gene at 9q31-33) and limb-girdle muscle dystrophy, Epidemiology : approximately 7–12 cases per 100, 000 children., 17.24 per 100, 000 live male births, POOR, As muscular dystrophy is a genetic condition, there’s nothing you can do at this time to prevent it.,,If you’re concerned about the risk of passing on muscular dystrophy or other genetic conditions before trying to have a biological child, talk to your healthcare provider about genetic counseling. In some situations, prenatal testing may be able to diagnose the condition in early pregnancy.,,If you have muscular dystrophy, there are steps you can take to try to prevent or delay complications and improve your quality of life, including : ,,Eat a healthy diet to prevent malnutrition.,Drink lots of water to avoid dehydration and constipation.,Exercise as much as possible according to your healthcare team’s recommendations.,Maintain a healthy weight.,Quit smoking to protect your lungs and heart.,Stay up to date on vaccines., Complications : Adrenal Insufficiency, aspiration pneumonia, Atelectasis, heart failure, pressure sores, Diagnostics : ECG, EMG/NCS, MRI Brain, PLASMA CREATINE KINASE, immunohistochemistry, molecular genetic testing, Differential diagnosis : botulism, Centronuclear myopathy, MYASTHENIA GRAVIS, Spinal Muscular Atrophies, disease description : Congenital muscular dystrophy is one of the variants of muscle weakness disorders presenting early in life during infancy and soon after birth. The difference between congenital myopathies and muscular dystrophies is that dystrophies are gradually progressive and are associated with increased muscle breakdown with age. Congenital myopathies signify disorders associated with muscle weakness in the neonatal age group, which could be secondary to genetic, metabolic, or other disorders and usually have a non-progressive course. Classification of these groups of disorders is based on findings on muscle biopsy and genetic evaluation. The muscle biopsy findings common for these disorders are muscle fiber atrophy, fibrofatty infiltration of tissue.

Congenital Rubella

Disease Name : Congenital Rubella, Treatment : Prenatal management of the mother and fetus depends on gestational age at onset of infection. If infection happens before 18 weeks gestation, the fetus is at high risk for infection and severe symptoms. Termination of pregnancy could be discussed based on local legislation. Detailed ultrasound examination and assessment of viral RNA in amniotic fluid is recommended.,,For infections after 18 weeks of gestation, pregnancy could be continued with ultrasound monitoring followed by neonatal physical examination and testing for RV-IgG.2,,Limited data suggest a benefit of intramuscular Immune Globulin (IG) for maternal rubella infection leading to decrease in viral shedding and risk of fetal infection., Supportive Care, Pathophysiology : Pathogenesis of congenital rubella syndrome is multifactorial and include the following : Non-inflammatory necrosis of chorionic epithelium and in endothelial cells which are then transported to fetal circulation and fetal organs.Intracellular actin assembly is inhibited by rubella infection, leading to inhibition of mitosis and restricted development of precursor cells.Upregulation of cytokines and interferon in infected cells which could contribute to congenital defects., Epidemiology : more than 100, 000 cases reported annually worldwide, poor, The best way to prevent rubella is vaccination with the MMR vaccine. It’s about 97% effective at preventing rubella infection. That means that out of 100 fully vaccinated people, three or fewer will get rubella. Both children and adults can receive a rubella vaccination.,,If you plan on becoming pregnant, you should get vaccinated or tested for rubella antibodies at least one month before trying to get pregnant.,,Other ways to protect yourself against rubella include : ,,Wash your hands frequently, especially if you’re sick.,Don’t share personal items — like cups or utensils — with anyone else.,Cover your mouth and nose when sneezing or coughing.,If traveling, know if rubella or other infectious diseases are more common at your destination., Complications : cataract, Deafness, ENCEPHALITIS, Glaucoma, intellectual disability, Bone disorders, Diagnostics : PLATELET COUNT, MRI Brain, doppler echocardiography, SEROLOGIC ESSAY, PCR, ELISA, CT SCAN, AMNIOTIC FLUID EXAMINATION, Audiometry, Fundus examination, Differential diagnosis : Congenital Syphilis, Cyto megalovirus infection, Mycoplasma infections dermatology, Toxoplasmosis, disease description : Rubella, also known as German Measles, is a viral illness characterized by maculopapular rash, lymphadenopathy, and fever. It is a highly contagious but generally mild disease, without consequences in most cases. However, maternal infection during the first trimester of pregnancy can cause a fetal malformation syndrome called congenital rubella syndrome.

Congenital Stromal Corneal Dystrophy

Disease Name : Congenital Stromal Corneal Dystrophy, Treatment : Genetic counseling.,Congenital stromal corneal dystrophy is inherited in an autosomal dominant manner. Most individuals diagnosed with congenital stromal corneal dystrophy have an affected parent. Each child of an affected individual has a 50% chance of inheriting the pathogenic variant. If the variant has been identified in an affected family member, prenatal testing for a pregnancy at risk is possible., Treatment of manifestations : Spectacles or contact lenses for correction of refractive errors; patching and/or surgical correction of strabismus; penetrating or deep anterior lamellar keratoplasty., Pathophysiology : Congenital stromal corneal dystrophy is an inherited eye disorders .This condition primarily affects the cornea, which is the clear outer covering of the eye. In people with this condition, the cornea appears cloudy and may have an irregular surface., Epidemiology : 897 per 106 have one of these conditions, which translates to approximately 278, 000 people in a population of 310 million., 0.09% of the population., poor, "This condition is inherited in an autosomal dominant pattern and therefore, it cant be prevented.,Although Genetic counselling is advisable.", Complications : Loss of vision, Diagnostics : Slit lamp examination, ophthalmoscopy, molecular genetic testing, Differential diagnosis : recurrent corneal erosions, uveitis, disease description : Congenital stromal corneal dystrophy (CSCD), also known as congenital hereditary stromal dystrophy occurs congenitally and is a nonprogressive or slowly progressive condition. Genetic locus is 12q2l.33 and the gene involved is decorin—DCN. Inheritance is autosomal dominant.The characteristic lesions are diffuse, bilateral, corneal clouding with flake-like, whitish stromal opacities throughout the stroma, causing moderate to severe visual loss.

Congenital Syphilis

Disease Name : Congenital Syphilis, Treatment : medication : Benzylpenicillin/ penicillin-G, Pathophysiology : In adults, syphilis initiates an infection after local infiltration through subcutaneous tissues to cause a local immune response and establish an initial ulcerative lesion. However, congenital syphilis differs from syphilis in adults in that T. pallidum is released straight into the bloodstream of the fetus causing spirochetemia with spread to most organs including the bones, kidney, spleen, liver, and heart. This leads to widespread inflammation throughout these organ systems leading to a variety of clinical manifestations., Epidemiology : 1 million pregnancies every year worldwide., 0.38%, variable, "Comprehensive prenatal care started early in pregnancy is essential in preventing congenital syphilis. Unfortunately, many obstacles make it difficult for women, particularly some poor and some minority women, to obtain needed care. These obstacles include financial barriers, the limited availability of health care providers who are willing to serve these populations, provider difficulty in communicating with patients who are poor or from different ethnic backgrounds, organizational arrangements that minimize accessibility and acceptability of treatment, poor coordination of services, and patients inadequate understanding of the need for care. Any modifications of the present system that would reduce these obstacles would also improve the opportunities for women with syphilis to receive care.,,Additional specific strategies are needed to encourage the use of prenatal care by women who may be at increased risk of transmitting syphilis to their fetus, to ensure that these women are adequately screened, and to maintain follow-up. These strategies include targeted out- reach efforts, coordination of activities among service providers, and special prenatal care components.", Complications : chills, pulmonary haemorrhage, Severe infections, fever, Hypotension, Diagnostics : VDRL, XRAY long bones, PCR, HISTOLOGIC EXAMINATION, DARK FIELD MICROSCOPY, rapid plasma reagin (RPR) tests, CSF-VDRL test, Differential diagnosis : Cyto megalovirus infection, rubella, TORCH (toxoplasmosis, others, rubella, cytomegalovirus, herpes simplex virus), Toxoplasmosis, disease description : Congenital syphilis (CS) is caused by transmission of the spirochete Treponema pallidum from the mother to the fetus, resulting in a multitude of clinical presentations ranging from asymptomatic, premature birth, and a wide array of clinical signs and symptoms to stillbirth.

Congenital Systemic Glutamine Deficiency (csgd), Glutamine Synthetase Deficiency

Disease Name : Congenital Systemic Glutamine Deficiency (csgd), Glutamine Synthetase Deficiency, Treatment : nan, Pathophysiology : The pathophysiology of CSGD involves disruptions in the normal synthesis and metabolism of glutamine, leading to a deficiency of this important amino acid. Glutamine plays a crucial role in multiple organs and tissues throughout the body, including the brain, liver, and immune system. It serves as a primary source of energy for rapidly dividing cells, a precursor for the synthesis of nucleotides, proteins, and other important molecules, and a key player in the regulation of cellular pH and ammonia detoxification., Epidemiology : <1 / 1 000 000;, variable, Complications : nan, Diagnostics : EEG, MRI Brain, glutamine, Differential diagnosis : nan, disease description : A rare neurometabolic disease characterized by neonatal onset of severe epileptic encephalopathy with brain malformations (including cerebral and cerebellar atrophy, white matter abnormalities, delayed gyration or complete agyria, and thin corpus callosum), generalized hypotonia, and lack of normal development. Additional features include facial dysmorphism and necrolytic erythema of the skin. Biochemical hallmarks are decreased levels of glutamine in body fluids and chronic hyperammonemia. Death may occur in the early post-natal period due to multiple organ failure.

Congenital Talipes Equino Varus (ctev)

Disease Name : Congenital Talipes Equino Varus (ctev), Treatment : "Principles of treatment : In principle, treatment,consists of correction of the deformity, and its,,maintenance. Correction can be achieved by non-,operative or operative methods. Maintenance is continued until the foot (and its bones) grows to a reasonable size, so that the deformity does not,recur.,Non-operative methods : Following are the non-,operative methods of correcting deformities : ,a) Manipulation alone,b) Manipulation and PoP,• Kites philosophy,• Ponsettis philosophy", "a) Postero-medial soft tissue release (PMSTR),b) Limited soft tissue release,c) Tendon transfers,d) Dwyers osteotomy,e) Dilwyn Evans procedure", Pathophysiology : All the tissues of the foot i.e., the bones, joints, ligaments and muscles have developmental abnormality. Bones : Bones of the foot are smaller than normal. Neck of the talus is angulated so that the head of the talus faces downwards and medially. Calcaneum is small, and concave medially. Joints : Deformities occur from the malpositioning of different joints : • Equinus deformity occurs primarily at the ankle joint. Other tarsal joints also contribute to it. • Inversion deformity occurs primarily at the subtalarjoint. The inverted calcaneum takes the whole foot with it so that the sole faces medially. • Forefoot adduction deformity occurs at the mid- tarsal joints, mainly at talo-navicular joint. • Forefoot cavus deformity is the result of excessive arching of the foot at the mid-tarsal joints. Muscles and tendons : Muscles of the calf are underdeveloped. As a result, the following muscles–tendon units are contracted : • Posteriorly - Tendoachilles • Medially - Tibialis posterior (3 muscles) - Flexor digitorum longus - Flexor hallucis longus Capsule and ligaments : All the ligamentous structures on the postero-medial side ofthe foot are shortened. Following are some of these structures : • Posterior Posterior capsule of the (3 structures) ankle joint Posterior capsule of the subtalar joint Posterior talo-fibular and calcaneo-fibular ligaments • Medial Talo-navicular ligament (3 ligaments) Spring ligament Deltoid ligament • Plantar Plantar fascia Plantar ligaments • Others Interosseous ligament between the talus and calcaneum Skin : The skin develops adaptive shortening on the medial side of the sole. There are deep creases on the medial side. There are dimples on the lateral aspect of the ankle and midfoot. Secondary changes : These changes occur in the foot if the child starts walking on the deformed feet. Weight bearing exaggerates the deformity. Callosities and bursae develop over the bony prominences on the lateral side of the foot., Epidemiology : 1 per 1000 live births, , its incidence ranges from 0.76 to 3.49 cases per 1000 live births., good, Good healthcare before and during pregnancy gives your child the best chance for a healthy start in life. Even before you’re pregnant, you may want to consider if a preconception checkup is right for you. During this visit, a healthcare provider makes sure you are as healthy as possible when you get pregnant.,,If you are at high risk for having a baby with clubfoot or other birth defects, talk to a genetic counselor. A genetic counselor is an expert in birth defects and genetic conditions. And get checked for infections such as Zika virus. Treating infections before you become pregnant increases the chances for a healthy pregnancy and baby.,,When you are pregnant : ,,Make sure to go to all your prenatal care checkups.,Protect against Zika.,Don’t smoke, use illegal drugs or drink alcohol., Complications : arthritis, foot deformity, Diagnostics : ultrasound, X RAY AP VIEWS, Differential diagnosis : cerebral palsy, spina bifida, disease description : Congenital talipes equinovarus (CTEV), often known as ‘club-foot’, is a common but little studied developmental disorder of the lower limb. It is defined as fixation of the foot in adduction, in supination and in varus, i.e. inclined inwards, axially rotated outwards and pointing downwards. The calcaneus, navicular and cuboid bones are medially rotated in relation to talus, and are held in adduction and inversion by ligaments and tendons. Although the foot is supinated, the front of the foot is pronated in relation to back of the foot, causing cavus. In addition, the first metatarsal is more plantar flexed. 

Congenital Venous Anomalies

Disease Name : Congenital Venous Anomalies, Treatment : medication : Amoxicillin and Clavulanic acid , sclerotherapy, Surgical intervention was traditionally considered to be the initial form of treatment if the lesion could be completely resected and had minimal anatomic and functional consequences, Pathophysiology : The pathophysiology of congenital venous anomalies can vary depending on the specific type of anomaly, but there are some general mechanisms involved.Developmental Defects : During embryonic development, the venous system undergoes complex formation and remodeling processes. Congenital venous anomalies can occur due to errors or disruptions in these processes. For example, abnormal development or fusion of venous plexuses, failure of venous valves to form properly, or persistence of embryonic vessels can lead to venous malformations.Abnormal Vessel Wall Structure : Congenital venous anomalies may involve structural abnormalities in the vein walls. These can include thinning, dilation, or weakening of the vessel walls, which can predispose them to dilation (varices) or formation of abnormal connections (fistulas) with adjacent veins or arteries.Altered Blood Flow Dynamics : Congenital venous anomalies can disrupt the normal flow of blood within the affected veins. This can occur due to the presence of abnormal connections, blockages, or narrowed segments within the venous system. These alterations in blood flow can lead to venous hypertension, backward flow of blood (venous reflux), and inefficient return of blood to the heart.Hemodynamic Stress : In some cases, congenital venous anomalies can result in increased stress on the affected veins. This can occur due to high pressures or volumes of blood flowing through abnormal connections or narrowed segments. Prolonged exposure to hemodynamic stress can lead to venous dilation, remodeling of vessel walls, and the development of symptoms such as pain, swelling, or ulceration., Epidemiology : prevalence of 1%, 1 to 2 in 10, 000, variable, Complications : Numbness, swelling, heaviness in legs, Diagnostics : CT ANGIOGRAPHY, MRI, DOPPLER USG, Differential diagnosis : congenital hemangioma, infantile haemangioma, disease description : Venous malformation (VM) is the most common type of congenital vascular malformation (CVM). They can cause significant morbidity, pain and discomfort to patients as they can lead to serious local and systemic complications. Although present at birth, they are not always clinically evident until later in life and tend to grow in concert with the child and without spontaneous regression . VMs are composed of ectatic venous channels found usually in the head, neck, limbs, and trunk and are thought to be sporadic in most cases, though familial inheritance patterns exist.

Congestive Heart Failure (chf)

Disease Name : Congestive Heart Failure (chf), Treatment : medication : Carvedilol , Furosemide , Digoxin , Spironolactone , Dopamine , Captopril , Dobutamine , Morphine, The fourprongs,are : (i) reducing cardiac work, (ii) augmenting,myocardial contractility, (iii) improving cardiac performance, ,(iv) correcting the underlying cause. (1)Reducing cardiac work Identification.,of the cause is important since it has direct bearing on survival. Neonates with heart failure are nursed in an incubator.,They are handled minimally. The baby is kept propped,up at an incline of about 30,°,. The pooling of edema fluid,in the dependent areas reduces the collection of fluid in,lungs, thus reducing the work of breathing. Humidified oxygen to maintain a concentration of 40 to 50%, improves impaired oxygenation secondary to,pulmonary congestion.,If the infant or the child is restless or dyspneic, sedatives,are used. Morphine sulfate in doses of 0.05 mg/kg SC,provides effective sedation. A benzodiazepine such as,midazolam is useful for sedation in selected circumstances. Vasodilators counteract the compensatory mechanisms in,heart failure and improve cardiac output. (2) Augmenting Myocardial Contractility : administration. Oral digoxin is available as 0.25,mg tablets and as digoxin elixir (1 ml = 0.05 mg) . Parenteral digoxin (0.5 mg/2 ml) is available; its dose,is 70% of the oral dose. Inotropic Agents : If blood pressure is low, dopa mine should be used, as an intravenous infusion. At a dose,of less than 5 microgram/kg per minute, dopamine causes,peripheral vasodilation and increases myocardial,contractility. Renal blood flow improves, resulting in,natriuresis; higher doses result in peripheral vasoconstriction.,The dose of dobutamine is 2.5 to 15 microgram/,kg/ min; the dose should be increased gradually,until the desired response is achieved. In patients with,dilated cardiomyopathy, dobutamine is used as 24 hr,infusion once or twice a week and retains its effectiveness,for varying lengths of time. (3) Improving Cardiac Performance,by Reducing Venous Return (Preload) : Diuretics reduce the total body sodium,thereby, reducing blood pressure and peripheral vascular,resistance. This helps in increasing the cardiac output and,reducing the work of the heart. (4) Correcting the Underlying Cause : Non-invasive tests (especially echocardiography) allow,identification of the cause in most children with suspected,heart disease, Pathophysiology : Congestive cardiac failure is the inability of the heart to maintain an output, at rest or during stress, necessary for the metabolic needs of the body (systolic failure) and inability to receive blood into the ventricular cavities at low pressure during diastole (diastolic failure). Thus, due to systolic failure it is unable to propel blood into the aorta and in diastolic failure it receives inadequate amount of blood. Diastolic heart failure is recognized by clinical features of heart failure with evidence of increased filling pressures with preserved systolic function and in many instances, cardiac output. An increase in left sided pressures results in dyspnea from pulmonary congestion. An increase in right sided pressures results in hepatomegaly and edema. Besides hypertrophied ventricles, diastolic failure occurs in restrictive heart disease and constrictive pericarditis. While mitral and tricuspid valve stenoses result in elevated atrial pressure, they are not, in the strictest sense diastolic heart failure. The causes of congestive failure can be classified according to age. Rheumatic fever and rheumatic heart disease is typically encountered beyond 5 yr age; its prevalence appears to be declining in selected urban populations. Heart failure from congenital heart disease typically happens within the first 1-2 yr of life. Patients with left to right shunts tend to develop CCF around six to eight weeks of life. Unlike left to right shunts, congenital leakage of the mitral or the tricuspid valve can result in heart failure at an early age. Congenital tricuspid regurgitation (TR) manifests early because the elevated pulmonary artery pressures increases its severity. If the TR is not severe, it may improve with time as pulmonary vascular resistance declines. The age of occurrence of heart failure may point towards the underlying cause . Heart failure at an unexpectedly early age for a patient thought to have a simple shunt lesion should prompt the search for an associated condition such as coarctation. Arrhythmias are an important cause of congestive cardiac failure in infancy. Three-quarters of infants with paroxysmal supraventricular tachycardia are below 4 months old. Heart rates above 180/min tend to precipitate heart failure. There is usually no failure in the first 24 hr. If the tachycardia persists for 36 hr, about 20% will develop heart failure and almost 50% will do so in 48 hr. There is a tendency for recurrences of tachycardia if the onset is after 4 months of age. Any long-standing tachyarrhythmia can be associated with ventricular dysfunction that may mimic cardiomyopathy. Typical examples include ectopic atrial tachycardia and permanent junctional re-entrant tachycardia. Severe bradycardia, typically from complete heart block, can also result in heart failure. With a normal heart, hemoglobin levels 5 g/ dl can result in heart failure. In a heart compromised by disease, failure may be precipitated even with hemoglobin levels of 7-8 g / dl. Younger infants are more susceptible to develop failure with anemia. Time of onset of congestive failure Birth-1 week- Duct dependent systemic circulation (hypoplastic left heart syndrome, critical aortic stenosis, severe coarctation, arch interruption); total anomalous pulmonary venous return (obstructed), congenital mitral and tricuspid valve regurgitation, neonatal Ebstein anomaly. 1-4 weeks- Patent ductus arteriosus (PDA) in preterms, ventricular septal defect (VSD) with coarctation, persistent truncus arteriosus, transposition with large VSD or PDA, severe coarctation; critical aortic stenosis, congenital mitral or tricuspid regurgitation, single ventricle physiology with unrestrictive pulmonary blood flow. 1-2 months- Transposition with VSD or PDA, endocardial cushion defects, VSD, PDA, severe coarctation; total anomalous pulmonary venous return, anomalous left coronary artery from pulmonary artery, single ventricle physiology with unrestrictive pulmonary flow. 2-6 months- VSD, PDA, endocardial cushion defect; anomalous left coronary artery from the pulmonary artery, coarctation, single ventricle physiology with unrestrictive pulmonary blood flow., Epidemiology : 10 per 1, 000 population, DEPENDS UPON UNDERLYING CAUSE, Although you can’t change some risk factors like age, family history or race, you can change your lifestyle to give yourself the best chance of preventing heart failure. Things you can do include : ,,Staying at a weight that’s healthy for you.,Eating foods that are good for your heart.,Exercising regularly.,Managing your stress.,Stopping the use of tobacco products.,Not drinking alcohol.,Not using recreational drugs.,Taking care of other medical conditions you have that can increase your risk., Complications : cardiogenic shock, failure to thrive, Diagnostics : ECG, MRI, MAGNETIC RESONANCE ANGIOGRAPHY (MR ANGIO), CHEST X RAY, CT SCAN, Transthoracic echocardiography (TTE), Differential diagnosis : ACUTE RHEUMATIC FEVER, anemia, Congenital heart disease, pulmonary hypertension, restrictive cardiomyopathy, disease description : Congestive cardiac failure is the inability of the heart to maintain an output, at rest or during stress, necessary for the metabolic needs of the body (systolic failure) and inability to receive blood into the ventricular cavities at low pressure during diastole (diastolic failure). Thus, due to systolic failure it is unable to propel blood into the aorta and in diastolic failure it receives inadequate amount of blood. Diastolic heart failure is recognized by clinical features of heart failure with evidence of increased filling pressures with preserved systolic function and in many instances, cardiac output. An increase in left sided pressures results in dyspnea from pulmonary congestion. An increase in right sided pressures results in hepatomegaly and edema. 

Conjoined Twins

Disease Name : Conjoined Twins, Treatment : Cesarean section ,offers best chance of fetal survival as ,in few cases of conjoined twins can be ,surgically separated, Pathophysiology : Conjoined twinning is the result of cleavage or axis duplication that occurs after day 13 of fertilization. They are described according to the site of fusion.The following are the types of conjoined twins along with their frequency :  Thoraco-omphalopagus (joined at thorax and abdomen) 28%Thoracopagus (joined at the thorax) 18.5%Omphalopagus (joined at the abdomen) 10%Heteropagus (parasitic twins) 10%  Craniopagus (joined at the level of the cranium) 6%Less commonly observed conjoined twins include : Pyopagus (joined at sacrum and perineum)Rachipagus (joined at vertebral column)Ischiopagus (joined at lower abdomen and pelvis)Cephalopagus (joined from head to umbilicus)The site of fusion and organs involved are a primary consideration for separation surgery. Typically, 25% of live births live long enough to be candidates for surgery., Epidemiology : Conjoined twins are associated with a higher predominance of the female sex. The female to male ratio is 3 to 1, Incidence varies from 1 : 100, 000 to 1 : 50, 000 births. In twin pregnancies the incidence is from 1 : 900 to 1 : 650., variable, Since the cause of conjoined twins is unknown, there’s no way to prevent conjoined twins from occurring during pregnancy., Complications : heart problem, Breathing difficulty, Diagnostics : ALFA FETO PROTEIN AFP, ultrasound, Differential diagnosis : nan, disease description : Conjoined twins are two babies who are born physically connected to each other.Conjoined twins develop when an early embryo only partially separates to form two individuals. Although two babies develop from this embryo, they remain physically connected — most often at the chest, abdomen or pelvis. Conjoined twins may also share one or more internal body organs.Though many conjoined twins are not alive when born (stillborn) or die shortly after birth, advances in surgery and technology have improved survival rates. Some surviving conjoined twins can be surgically separated.

Conjunctival Concretions

Disease Name : Conjunctival Concretions, Treatment : It consists of their removal with the help,of a hypodermic needle under topical anaesthesia., Pathophysiology : nan, Epidemiology : GOOD, Complications : corneal abrasions, Diagnostics : nan, Differential diagnosis : nan, disease description : Concretions are formed due to accumulation of inspissated mucus and dead epithelial cell debris into the conjunctival depressions called loops of Henle. They are commonly seen in elderly people in a degenerative condition and also in patients with scarring stage of trachoma. The name concretion is a misnomer, as they are not calcareous deposits.

Conjunctival Dermoids

Disease Name : Conjunctival Dermoids, Treatment : SIMPLE EXCISION, Pathophysiology : The pathophysiology of conjunctival dermoids is not fully understood, but there are several theories regarding their development.Embryological Development : One theory suggests that conjunctival dermoids result from abnormal embryological development during the formation of the eye and its surrounding structures. During early fetal development, the layers of the eye and the skin differentiate from the same embryonic tissues. It is postulated that a developmental error or a sequestration of ectodermal elements during this process leads to the presence of dermal tissues in the conjunctiva.Dysplastic Epithelium : Another theory proposes that conjunctival dermoids arise from abnormal differentiation or migration of the epithelial cells during embryogenesis. It is thought that the ectodermal cells that are supposed to differentiate into normal conjunctival epithelium instead develop into dermal tissues, resulting in the formation of dermoid tumors on the conjunctiva.Trauma or Implantation : In some cases, trauma or implantation of foreign tissue may contribute to the development of conjunctival dermoids. It is believed that when foreign materials, such as skin fragments or hair, are introduced into the conjunctiva during a traumatic event or surgical procedure, they can trigger the formation of dermoid tumors., Epidemiology : only 14 cases of conjunctival dermoid cysts have been reported, variable, it’s important to take good care of your eyes so they work properly well into the future., Complications : abscess, VISION DEFICITS, Diagnostics : CT SCAN, PHYSICAL EXAMINATION, Differential diagnosis : encephalocele, Mucocele, disease description : These are common congenital tumours which usually occur at the limbus. They appear as solid white masses, firmly fixed to the cornea. Dermoid consists of collagenous connective tissue, sebaceous glands and hair, lined by epidermoid epithelium. Dermoids are choristomas (normal tissues that are in the wrong place). Made up of cutaneous and subcutaneous tissue, it is not uncommon for dermoids to contain hair and other skin structures. These tumors can be found on the eye, adnexa and orbit.

Conjunctivitis

Disease Name : Conjunctivitis, Treatment : medication : Sulfacetamide, Using artificial tears.,Cleaning your eyelids with a wet cloth.,Applying cold or warm compresses several times daily.,Antiviral medicines may be an option if your viral conjunctivitis is caused by the herpes simplex virus., Pathophysiology : Conjunctivitis results from inflammation of the conjunctiva. The cause of this inflammation can be due to infectious pathogens or non-infectious irritants. The result of this irritation or infection is injection or dilation of the conjunctival vessels; this results in the classic redness or hyperemia and edema of the conjunctiva. The entire conjunctiva is involved, and there is often discharge as well. The quality of discharge varies depending on the causative agent. In bacterial conjunctivitis, the surface tissues of the eye are colonized by normal flora, such as staphylococci,  streptococci, and corynebacteria. The primary defense mechanism against infection is the epithelial covering of the conjunctiva. Any disruption in this barrier can cause infection. Secondary defense mechanisms include immune reactions carried out by the tear film immunoglobulins and lysozyme, conjunctival vasculature, and the rinsing action of blinking and lacrimation., Epidemiology : approximately 80, 000 per 100, 000 cases with acute conjunctivitis., highest incidence occurring between the ages of 0 and 4 years, GOOD, If you or your child has bacterial or viral pink eye, your healthcare provider may recommend staying home from work, school or daycare until you’re no longer contagious. Check with your healthcare provider to find out how long that may be. You’re usually less likely to spread the infection if you’ve been on antibiotics for 24 hours or no longer have symptoms.,,Following good general hygiene and eye care practices can also help prevent the spread of pink eye.,,Don’t touch or rub the infected eye(s).,Wash your hands often with soap and water.,Wash any discharge from your eyes twice a day using a fresh cotton ball. Throw away the cotton ball and wash your hands with soap and warm water afterward.,Wash your hands after applying eye drops or ointment to your eye or someone else’s eye.,Don’t share personal items such as makeup, contact lenses, towels or cups., Complications : Inflammation of the eyes, uveitis, Diagnostics : Slit lamp examination, PHYSICAL EXAMINATION, Differential diagnosis : CHALAZION, corneal abrasions, CORNEAL ULCER, dry eyes, EPISCLERITIS, Glaucoma, iritis, KERATITIS, SCLERITIS, disease description : Conjunctivitis is the most common cause of a red, irritated eye. Pink eye (conjunctivitis) is an inflammation or infection of the transparent membrane (conjunctiva) that lines your eyelid and covers the white part of your eyeball. When small blood vessels in the conjunctiva become inflamed, theyre more visible. This is what causes the whites of your eyes to appear reddish or pink.Pink eye is commonly caused by a bacterial or viral infection, an allergic reaction, or — in babies — an incompletely opened tear duct.

Connective Tissue Disorders

Disease Name : Connective Tissue Disorders, Treatment : "Corticosteroids. Drugs, such as prednisone (Deltasone, Rayos), can help prevent your immune system from attacking healthy cells and suppress inflammation. ,Antimalarial drugs. Hydroxychloroquine (Plaquenil) can treat mild mixed connective tissue disease and might prevent flare-ups.,Calcium channel blockers. This category of medications, including nifedipine (Adalat CC, Procardia) and amlodipine (Norvasc), that help relax the muscles in the walls of your blood vessels might be used to treat Raynauds phenomenon.,Pulmonary hypertension medications. Bosentan (Tracleer) or sildenafil (Revatio, Viagra) might be prescribed.", Pathophysiology : The pathophysiology of connective tissue disorders can vary depending on the specific disorder, but there are some common underlying mechanisms involved : Genetic Mutations : Many connective tissue disorders have a genetic basis, resulting from mutations or alterations in specific genes that encode for proteins involved in the formation and maintenance of connective tissue. These genetic mutations can affect the structure, function, or production of these proteins, leading to abnormalities in the connective tissue.Collagen Abnormalities : Collagen is the most abundant protein in the connective tissue and provides strength and support to various structures in the body, including the skin, bones, joints, and blood vessels. In connective tissue disorders, there can be defects in collagen synthesis or processing, resulting in abnormal collagen fibers. This can weaken the structural integrity of the tissue and lead to a range of manifestations, depending on the specific tissues affected.Extracellular Matrix Dysfunction : Connective tissue disorders can also involve abnormalities in other components of the extracellular matrix, including elastin and proteoglycans. Elastin provides elasticity to tissues, and abnormalities in its synthesis or structure can lead to increased stiffness or fragility. Proteoglycans contribute to the hydration and resilience of the extracellular matrix, and their dysfunction can disrupt tissue homeostasis., Epidemiology : 1.9 per 100, 000 adults per year, variable, You may be able to prevent exposures to toxins, and you are able to eat healthy foods that meet your vitamin and nutrient needs. However, you cannot prevent diseases that are inherited., Complications : nan, Diagnostics : ANA, Rheumatoid Factor Test, X RAY, Anti-dsDNA antibody, Differential diagnosis : nan, disease description : A connective tissue disease is any disease that affects the parts of the body that connect the structures of the body together. Connective tissues are made up of two proteins : collagen and elastin. Connective tissue disease refers to a group of disorders involving the protein-rich tissue that supports organs and other parts of the body. Examples of connective tissue are fat, bone, and cartilage. These disorders often involve the joints, muscles, and skin, but they can also involve other organs and organ systems, including the eyes, heart, lungs, kidneys, gastrointestinal tract, and blood vessels. There are more than 200 disorders that affect the connective tissue. Causes and specific symptoms vary by the different types.

Conns Syndrome

Disease Name : Conns Syndrome, Treatment : medication : Spironolactone , patients with glucocorticoid-mediated hyperaldosteronism, low doses of corticosteroids can help with blood pressure control., Pathophysiology : Primary hyperaldosteronism is caused by aldosterone-producing adenomas, bilateral idiopathic adrenal hyperplasia, aldosterone-producing adrenal carcinoma, and familial aldosteronism. The increased amount of aldosterone potentiates renal sodium reabsorption and water retention, and potassium excretion. The increased sodium reabsorption by the kidneys results in plasma volume expansion which is the primary initiating mechanism for hypertension. This may induce tissue inflammation and heightened sympathetic drive, with subsequent development of fibrosis in vital organs, such as heart, kidneys, and vasculature. As a result, this may lead to the development of chronic kidney disease, atrial fibrillation, stroke, ischemic heart disease, and congestive heart failure., Epidemiology : the prevalence increased to 30% when aldosterone to renin ratio (ARR) was used as a screening method in general practice., affecting 1% of the hypertensive population, variable, There is no way to prevent primary aldosteronism. Monitoring your blood pressure frequently can help spot problems., Complications : hypertension, Diagnostics : ALDOSTERONE TO RENIN RATIO, Differential diagnosis : bartter syndrome, Gitelman Syndrome, metabolic alkalosis, disease description : Primary aldosteronism means the adrenal glands produce too much of the steroid hormone aldosterone, which helps regulate sodium and potassium excretion. The adrenal glands are two small triangular glands, one on top of each kidney.This condition, also called Conn’s syndrome, results from overproduction of aldosterone by one or both adrenal glands. Overproduction of aldosterone by both glands, noncancerous masses in one adrenal gland or, very rarely, cancerous tumors, can cause overproduction of aldosterone.Primary aldosteronism usually manifests with high blood pressure and low potassium levels in the blood. Left unchecked, high blood pressure raises your risk for complications including heart attack and stroke, while low potassium can cause heart rhythm irregularities.

Constricting Bands Of The Extremities

Disease Name : Constricting Bands Of The Extremities, Treatment : staged Z-plasty, two-stage sine plasty with removal of ,the fascial groove and fasciotomy, treating half the limb initially ,and the other half a week later, Pathophysiology : Extrinsic and intrinsic factors are probably equally important. Disruption of the development of the germinal disc in the embryo may predispose to fibrotic bands and associated congenital abnormalities. Rupture of the amnion may result in loss of amniotic fluid and extrusion of all or part of the fetus into the chorionic cavity, with resultant trapping of limbs. In adults with ainhum, vascular damage appears to be important, resulting in hypoxia. In some patients, arteriography has shown that the posterior tibial artery is attenuated at the ankle, and the plantar arch and its branches are absent, Epidemiology : The birth prevalence was 0.9 per 10 000 births, varies from 1/1200 and 1/15000 live births, poor, Complications : limb mutilation, Diagnostics : USG Obstetrics, doppler echocardiography, GENETIC TESTING, Differential diagnosis : Pseudo-ainhum, disease description : Constriction band syndrome is a congenital condition with a wide spectrum of clinical presentation. The physical appearance ranges from a mild hourglass-type circumferential indentation in the skin to complete digit or limb reduction. A deep band may result in distal lymphedema, nerve compression, deformity, and acrosyndactyly.There is such great variation that no two individuals will have the identical deformity, posing a treatment challenge for hand surgeons. Operative treatment is by necessity as varied as the clinical presentation. 

Contact Dermatoconjunctivitis

Disease Name : Contact Dermatoconjunctivitis, Treatment : 1. Discontinuation of the causative medication, ,2. Topical steroid eyedrops to relieve symptoms, and,3. Application of steroid ointment on the involved,skin., Pathophysiology : It is in fact a delayed hypersensitivity (Type IV) response to prolonged contact with chemicals and drugs. A few common topical ophthalmic medications known to produce contact dermatoconjunctivitis are atropine, penicillin, neomycin, soframycin and gentamicin. 1. Cutaneous involvement is in the form of weeping eczematous reaction, involving all areas with which medication comes in contact. 2. Conjunctival response is in the form of hyperaemia with a generalised papillary response affecting the lower fornix and lower palpebral conjunctiva more than the upper. 3. Cornea may show punctate epithelial keratitis and erosions., Epidemiology : 20% of the population, of whom about 20% experience eye problems, GOOD, Avoid touching or rubbing your eyes. ...,Avoid sharing personal items, such as makeup, eye drops, towels, bedding, contact lenses and containers, and eyeglasses.,Do not use the same eye products for your infected and non-infected eye, Complications : corneal erosions, Diagnostics : serum IgE level, Radioallergosorbent test (RAST), Skin test, COTTON SWAB STICK TEST, Conjunctival cytology, Differential diagnosis : corneal abrasions, corneal erosions, dry eyes, KERATITIS, VERNAL KERATOCONJUNCTIVITIS, disease description : It is an allergic disorder, involving conjunctiva and skin of lids along with surrounding area of face. Contact dermatoconjunctivitis the leathery, corrugated, scaly thickening of the skin is caused by type IV hypersensitivity to a topically applied agent. The conjunctiva is often hyperemic (not shown) as a reaction to the inflamed eyelids.

Convergent Squint

Disease Name : Convergent Squint, Treatment : Accommodative esotropia : fully correctable by use of spectacles, bifocal glasses with add,+3 DS for near vision, corrected by an addition of +3 DS lens, Surgery is the treatment of choice.,• Amblyopia treatment by patching the normal eye,should always be done before performing the,surgery.,• Recession of both medial recti is preferred over,unilateral recess-resect procedure.,• Time of surgery. Surgery should be done between,6 months to 2 years (preferably before 1 year of,age)., Pathophysiology : The pathophysiology of convergent squint involves a disruption in the normal coordination and alignment of the eye muscles, leading to the misalignment of the eyes.The precise underlying mechanisms of convergent squint are not fully understood, but several factors are believed to contribute to its development : Muscle Imbalance : The movement and alignment of the eyes are controlled by a complex interplay between six extraocular muscles that surround each eye. In convergent squint, there is an imbalance in the contraction or relaxation of these muscles, resulting in the misalignment of the eyes. The exact cause of this muscle imbalance is often multifactorial and can involve genetic predisposition, abnormal nerve control, or structural abnormalities in the eye muscles.Defective Fusion and Binocular Vision : Binocular vision refers to the ability of both eyes to work together and create a single, fused image. In individuals with convergent squint, the misalignment of the eyes disrupts the normal binocular vision process. The brain may receive conflicting visual information from each eye, leading to suppression of the visual input from the deviated eye to avoid double vision. This suppression further exacerbates the misalignment of the eyes., Epidemiology : affecting between 2 and 4 percent of the population, GOOD, Only in refractive type convergent squint; timely intervention with glasses will prevent further worsening of squint., Complications : amblyopia, diplopia, endophthalmitis, Conjunctival scarring, Diagnostics : FUNDOSCOPY, VISUAL ACUITY TEST, OCULAR MOTILITY, Perimetry, Extra Ocular muscle function test, Pupillary reactions, Cover tests, Hirschberg corneal reflex test, The prism and cover test, Krimsky corneal reflex test, Measurement of deviation with synoptophore, Worth’s four-dot test, Tests for fixation, After-image test, Sensory function tests with synoptophore, Neutral density filter test, Fundus examination, Differential diagnosis : Strabismus fixus convergence, disease description : Concomitant convergent squint or esotropia denotes inward deviation of one eye and is the most common type of squint in children. It can be unilateral (the same eye always deviates inwards and the second normal eye takes fixation) or alternating (either of the eyes deviates inwards and the other eye takes up fixation, alternately).

Copper Deficiency

Disease Name : Copper Deficiency, Treatment : The recommended daily intake of copper for infants up to 12 ,months of age is 200–220 µg/day. Children 1–13 years of age ,require 340–700 µg/day, with the recommended intake increasing ,with age. Adolescents and adults require 890–900 µg/day.,,In acquired copper deficiency, intravenous copper can be used to rapidly correct deficiency and copper gluconate can be used for long-term ,enteral supplementation., Pathophysiology : Decreased dietary intake from malnutrition or chronic unsupplemented parenteral nutrition can lead to acquired copper deficiency. Individuals with excessive intake of iron, zinc, antacids or vitamin C can develop copper deficiency due to inhibition of intestinal copper absorption. Gastric bypass surgery, short gut syndrome, cystic fibrosis and coeliac disease also place individuals at risk for impaired copper absorption. Genetics : Menkes disease is an X-linked recessive disorder caused by a mutation in ATP7A, which encodes for a copper transporting ATPase-a polypeptide., Epidemiology : 9.6%, 18.8%, Copper supplements on the market include copper gluconate, copper sulfate, and copper chloride., Taking about 2 milligrams (mg) of copper per day may help to correct a deficiency, Complications : Ataxia, anaemia, pancytopenia, Myeloneuropathy, Diagnostics : Ceruloplasmin test, Peripheral Blood Smear, PLATELET COUNT, SERUM COPPER, NEUTROPHILS, Differential diagnosis : Ehlers–Danlos syndrome, Myelodysplastic syndrome, osteogenesis imperfecta, disease description : Copper is an essential co-factor for several metalloenzymes in the human body, including tyrosinase and lysyl oxidase. Copper-rich foods include chocolate, dark leafy greens, eggs, beef and pork liver, whole grains, fish and oysters. Absorption of copper occurs through the intestinal copper transporter ATP7A. Deficiency states result from decreased absorption or decreased dietary intake, and are characterized by various neurological, dermatological and musculoskeletal abnormalities. Copper deficiency in Menkes disease is related to a congenital defect in copper transport.

Cor Pulmonale

Disease Name : Cor Pulmonale, Treatment : treat underlying cause., Pathophysiology : Although many conditions can lead to cor pulmonale, the common pathophysiologic mechanism is pulmonary hypertension and increased RV afterload sufficient to alter RV structure (i.e., dilation with or without hypertrophy) and function. Normally, mean pulmonary artery pressure is only ~15 mmHg and does not increase significantly even with increasing multiples of cardiac output, because of pulmonary vasodilation and blood vessel recruitment in the pulmonary circulatory bed. But, in the setting of parenchymal lung diseases, primary pulmonary vascular disorders, or chronic (alveolar) hypoxia, the circulatory bed undergoes vascular remodeling, vasoconstriction, and destruction. As a result, pulmonary artery pressures and RV afterload increases, setting the stage for cor pulmonale. The systemic consequences of cor pulmonale relate to alterations in cardiac output as well as salt and water homeostasis. Anatomically, the RV is a thin-walled, compliant chamber better suited to handle volume overload than pressure overload. Thus, the sustained pressure overload eventually leads to RV dysfunction and failure. The response of the RV to pulmonary hypertension depends on the acuteness and severity of the pressure overload. Acute cor pulmonale occurs after a sudden and severe stimulus (e.g., massive pulmonary embolus), with RV dilatation and failure but no RV hypertrophy. Chronic cor pulmonale, however, evolves slowly and in conjunction with modest, compensatory RV hypertrophy that lowers wall tension and preserves RV function. Over time, RV dilation ensues leading to an increase in RV wall tension and overt dysfunction. Acute decompensation of compensated chronic cor pulmonale is a common clinical occurrence. Triggers include worsening hypoxia from any cause (e.g., pneumonia), acidemia (e.g., exacerbation of COPD), acute pulmonary embolus, atrial tachyarrhythmia, hypervolemia, and mechanical ventilation that compresses blood vessels associated with alveoli and further increasing RV afterload., Epidemiology : not specific, Complications : death, Hypoxia, pedal edema, syncope, hepatic congestion, Diagnostics : NT- Pro- BNP, ECG, USG ABDOMEN(W/A), trans thoracic 2D ECHO, CT CHEST, MRI CHEST, CT ANGIOGRAPHY, CHEST X RAY, Differential diagnosis : ATRIAL MYXOMA, pulmonary hypertension, disease description : Cor pulmonale, also referred to as pulmonary heart disease, is broadly defined by altered RV structure and/or function in the context of chronic lung disease and is triggered by the presence of pulmonary hypertension. Although RV dysfunction is an important sequela of HFpEF and HFrEF, this is not considered as cor pulmonale.

Cord Prolapse

Disease Name : Cord Prolapse, Treatment : BABY LIVING : I. Definitive treatment : ? Cesarean section is the best treatment when the baby is ,sufficiently mature and is alive. Just prior to making the abdominal incision, the fetal heart should be ,auscultated once more to avoid unnecessary section on a dead baby. The operation should be done ,quickly up to the delivery of the baby.,II. Immediate safe vaginal delivery is possible : ? If the head is engaged, delivery is to be completed ,by forceps. Ventouse may not be ideal in such circumstances as it takes a longer time. ? If breech, the ,delivery is to be completed by breech extraction and in transverse lie, it should be completed by internal ,version followed by breech extraction. The same also applies in cases where the head is not engaged in ,second baby of twins.,III. Immediate safe vaginal delivery is not possible : First aid management : The aim is to minimize ,pressure on the cord till such time when the patient is prepared for assisted delivery or is transferred ,to an equipped hospital. If an oxytocin infusion is on, this should be stopped. At this time intravenous ,fluid and O2, by face mask is given., Pathophysiology : Anything which interferes with perfect adaptation of the presenting part to the lower uterine segment, disturbing the ball valve action may favor cord prolapse. Too often, more than one factor operates. The following are the associated factors : (1) Malpresentations—the most common being transverse (5–10%) and breech (3%) especially with flexed legs or footling and compound (10%) presentation, (2) Contracted pelvis, (3) Prematurity, (4) Twins, (5) Hydramnios, (6) Placental factor— minor degree placenta previa with marginal insertion of the cord or long cord, (7) Iatrogenic—low rupture of the membranes, manual rotation of the head, ECV, IPV , (8) Stabilizing induction..Occult prolapse—is difficult to diagnose. The possibility should be suspected if there is persistence of variable deceleration of fetal heart rate pattern detected on continuous electronic fetal monitoring. Cord presentation—The diagnosis is made by feeling the pulsation of the cord through the intact membranes. Cord prolapse—The cord is palpated directly by the fingers and its pulsation can be felt if the fetus is alive. Cord pulsation may cease during uterine contraction which, however, returns after the contraction passes off. Temptation to pull down the loop for visualization or unnecessary handling is to be avoided to prevent vasospasm. Fetus may be alive even in the absence of cord pulsation. Hence, prompt USG for cardiac movements or auscultation for FHS to be done before fetal death is declared., Epidemiology : estimates that 57% occur within five minutes of membrane rupture while 67% occur within one hour of rupture., 1 in 300 deliveries.., DEPENDABLE, No, you can’t prevent umbilical cord prolapse. It’s also hard to detect during pregnancy because the umbilical cord and fetus move frequently. Your healthcare provider can only act quickly when umbilical cord prolapse occurs., Complications : Anoxia, infection, Slight blood loss, Fetal death, Diagnostics : Complete Blood Count CBC, Color Doppler, USG Obstetrics, PHYSICAL EXAMINATION, Differential diagnosis : placenta abruptio, placenta previa, Uterine rupture, disease description : Umbilical cord prolapse (UCP) occurs when the umbilical cord exits the cervical opening before the fetal presenting part. It is a rare obstetric emergency that carries a high rate of potential fetal morbidity and mortality. Resultant compression of the cord by the descending fetus during delivery leads to fetal hypoxia and bradycardia, which can result in fetal death or permanent disability. Early recognition and intervention are paramount to the reduction of adverse outcomes in the fetus.

Corneal Opacity

Disease Name : Corneal Opacity, Treatment : 1. Cosmetic coloured contact lens, 2. Tattooing of scar, 1. Optical iridectomy, 2. Phototherapeutic keratectomy (PTK), 3. Keratoplasty provides good visual results., Pathophysiology : Corneal opacity may produce loss of vision (when dense opacity covers the pupillary area) or blurred vision (due to astigmatic effect). Types of corneal opacity Depending on the density, corneal opacity is graded as nebula, macula and leucoma. 1. Nebular corneal opacity. It is a faint opacity which results due to superficial scars involving Bowman’s layer and superficial stroma. A thin, diffuse nebula covering the pupillary area interferes more with vision than the localised leucoma away from pupillary area. Further, the nebula produces more discomfort to patient due to blurred image owing to irregular astigmatism than the leucoma which completely cuts off the light rays. 2. Macular corneal opacity. It is a semi-dense opacity produced when scarring involves about half the corneal stroma. 3. Leucomatous corneal opacity (leucoma simplex). It is a dense white opacity which results due to scarring of more than half of the stroma. 4. Adherent leucoma. It results when healing occurs after perforation of cornea with incarceration of iris. 5. Corneal facet. Sometimes, the corneal surface is depressed at the site of healing (due to less fibrous tissue); such a scar is called facet. 6. Kerectasia. In this condition, corneal curvature is increased at the site of opacity (bulge due to weak scar). 7. Anterior staphyloma. An ectasia of pseudocornea (the scar formed from organised exudates and fibrous tissue covered with epithelium) which results after total sloughing of cornea, with iris plastered behind it is called anterior staphyloma. Secondary changes in corneal opacity which may be seen in long-standing cases include : hyaline degeneration, calcareous degeneration, pigmentation and atheromatous ulceration., Epidemiology : 3 in 100, 000 newborns. This number increases to 6 in 100, 000 if congenital glaucoma patients are included., variable, To help reduce your chance of corneal opacity : ,,Take care to avoid injuring the eye. Wear eye protection during any potentially dangerous activity. Make sure safety goggles are worn tight against the face, otherwise a foreign body can fly up under the goggles and injure the eye.,Take proper care of contact lenses. Follow your doctor’s recommendations regarding wear and cleaning them.,See your doctor right away if you think you have an eye infection, if you injured your eye, or if you develop any pain or change in vision., Complications : amblyopia, blindness, vision abnormalities, Strabismus, Diagnostics : VISUAL ACUITY TEST, ophthalmoscopy, Corneal biopsy, slit-lamp biomicroscopic examination, Corneal topography, Differential diagnosis : corneal abrasions, injury, disease description : The word ‘corneal opacification’ literally means loss of normal transparency of cornea, which can occur in many conditions. Therefore, the term ‘corneal opacity’ is used particularly for the loss of transparency of cornea due to scarring. Causes 1. Congenital opacities may occur as developmental anomalies or following birth trauma. 2. Healed corneal wounds. 3. Healed corneal ulcers.

Corneal Ulcer

Disease Name : Corneal Ulcer, Treatment : medication : Ciprofloxacin , Ofloxacin , Atropine/ Atropine methonitrate, Treatment of bacterial keratitis and corneal ulcers consists first of topical antibiotics, most commonly with fluoroquinolones such as ciprofloxacin or ofloxacin.7 Due to growing antibiotic resistance of common ocular pathogens corneal culture and sensitivity testing is recommended for all corneal ulcers, especially those that are large, central, and correlate with significant stromal involvement. An ophthalmologist should perform a culture of the corneal ulcer., Pathophysiology : Bacterial : The most common pathophysiology of corneal ulcers is infectious, with bacterial pathogens responsible for a majority of the cases. Ulcers start as keratitis (inflammation of the cornea) after a break in the corneal epithelium allows bacteria to enter. These breaks are most commonly due to contact lens wear, corneal abrasions, and other ocular trauma. Other risk factors include diabetes, prior ocular surgery, chronic ocular disease, use of corticosteroids, contaminated ocular medications, and agricultural work. The most common are Staphylococcus aureus, coag negative staphylococcus, and Pseudomonas aeruginosa. Staphylococcus epidermidis and Staphylococcus fusarium species are the most commonly implicated in polymicrobial keratitis with trauma being the most common inciting factor. Viral : HSV is a common cause of viral keratitis Fungal : Fungal etiologies account for only 5 to 10% of all corneal infections. They are more common in warmer, humid parts of the country and are most often precipitated by trauma to the cornea with subsequent exposure to plant or vegetable material. protozoan : Acanthamoeba is a free-living protozoan found in freshwater and in soil that can cause keratitis and corneal ulcers primarily in contact lens wearers. Autoimmune disease, Epidemiology : incidence of 60.3 per 100000 person-years, Prognosis depends on the etiology, size, and locat, The best way to prevent a corneal ulcer is to see your eye care provider right away if you have an eye injury or think you have symptoms of a corneal ulcer.,,Contact lens use is the highest risk factor for a corneal ulcer. With this in mind, some helpful tips for contact lens wearers include : ,,Always wash your hands before touching your eyes.,Properly clean and disinfect your contact lenses before and after wearing them.,Don’t sleep while wearing your contact lenses. Always take them out every night.,Don’t swim or shower in your contacts.,Don’t buy contacts from nonmedical sources.,Don’t wear your contacts if your eyes are irritated.,Clean and sterilize your contact lens case with the proper solutions.,Be aware of the increased risk of infection with extended wear lenses. Talk with your eye care provider or optician if you have questions.,Ask your eye care provider when to throw out and replace your contacts.,Always wear protective eyewear if you work or have hobbies that put you at risk for an eye injury., Complications : Glaucoma, perforation, Corneal scarring, IRREGULAR ASTIGMATISM, cataracts, Diagnostics : Complete Blood Count CBC, Erythrocyte Sedimentation Rate (ESR), Slit lamp examination, VISUAL ACUITY TEST, USG, fluorescein staining, Seidel’s test, Differential diagnosis : angle closure glaucoma, ANTERIOR UVEITIS (IRIDOCYCLITIS), chemical eye burns, corneal abrasions, EPISCLERITIS, foreign body, SCLERITIS, disease description : A corneal ulcer, a defect of the corneal epithelium involving the underlying stroma, is a potentially vision-threatening ocular emergency. Even with prompt treatment patients can suffer significant morbidity with complications including corneal scarring or perforation, development of glaucoma, cataracts or anterior and posterior synechiae, and vision loss. Untreated bacterial keratitis may result in endophthalmitis and subsequent loss of the eye.

Corneal Vascularization

Disease Name : Corneal Vascularization, Treatment : • Application of irradiation is more useful in,superficial than the deep vascularization., • Corticosteroids may have vasoconstrictive and,suppressive effect on permeability of capillaries., • Surgical treatment in the form of peritomy may be,employed for superficial vascularization., Pathophysiology : Pathogenesis of corneal vascularization is still not clear. It is presumed that mechanical and chemical factors play a role. Vascularization is normally prevented by the compactness of corneal tissue. Probably, due to some vasoformative stimulus (chemical factor) released during pathological states, there occurs proliferation of vessels which invade from the limbus; when compactness of corneal tissue is loosened (mechanical factor) due to oedema (which may be traumatic, inflammatory, nutritional, allergic or idiopathic in nature). Clinically, corneal vascularization may be superficial or deep. 1. Superficial corneal vascularization. In it vessels are arranged usually in an arborising pattern, present below the epithelial layer and their continuity can be traced with the conjunctival vessels. Common causes of superficial corneal vascula-rization are : trachoma, phlyctenular keratoconjunctivitis, superficial corneal ulcers and rosacea keratitis. Pannus. When extensive superficial vascularization is associated with white cuff of cellular infiltration, it is termed as pannus. In progressive pannus, corneal infiltration is ahead of vessels while in regressive pannus it lags behind. 2. Deep vascularization. In this vessels are generally derived from anterior ciliary arteries and lie in the corneal stroma. These vessels are usually straight, not anastomosing and their continuity cannot be traced beyond the limbus. Deep vessels may be arranged as terminal loops, brush , parasol, umbel, network or interstitial arcade. Common causes of deep vascularization are : interstitial keratitis, disciform keratitis, deep corneal ulcer, chemical burns, sclerosing keratitis and corneal grafts., Epidemiology : nan, Complications : nan, Diagnostics : ophthalmoscopy, slit-lamp biomicroscopic examination, Keratometry, Corneal topography, Differential diagnosis : nan, disease description : Normal cornea is avascular except for small capillary loops which are present in the periphery for about 1 mm. In pathological states, it can be invaded by vessels as a defence mechanism against the disease or injury. However, vascularization interferes with corneal transparency and occasionally may be a source of irritation.

Corrosive Injury To Oesophagus

Disease Name : Corrosive Injury To Oesophagus, Treatment : 1.Neutralisation with vinegar or citrus food if it is alkali ,ingestion (If pH of the solution is less than 11.5, then ,damage is less); it is with antacids, milk, egg whites if it ,is acid ingestion.,2.2nd and 3rd degree burns : They are treated with fluid ,therapy, antibiotics, nutrition, resuscitation, PPls, aero\x02solised steroids, fiberoptic-guided airway intubation if ,needed/tracheostomy; endoscopic oesophageal stenting, ,feeding jejunostomy, laparoscopy for evaluation, Pathophysiology : nan, Epidemiology : nan, Complications : strictures, Diagnostics : Upper GI Endoscopy, Differential diagnosis : nan, disease description : Corrosives are commonest cause of oesophageal stricture. Mainly due to ingestion of alkali (Lye strictur~Lye is strong alkali sodium hydroxide) sodium hydroxide, occasionally due to acid (sulphuric acid, nitric acid). Acid commonly damages the stomach. It causes extensive inflammation of the mucosa with perioesophagitis which, if not treated, leads to multiple strictures in oesophagus.

Corrosive Poisoning

Disease Name : Corrosive Poisoning, Treatment : medication : Dexamethasone , Methyl prednisolone , stricture formation can be prevented or reduced by steroid use, stenting, use of nasogastric tube and balanced diet, and retrograde intraluminal dilatation., Emergency surgical intervention is indicated in cases of esophageal or gastric perforation although it is difficult to predict it initially. Patients with shock, coagulation disorders or acidosis and those who have ingested a large quantity of corrosive substances tend to develop severe post-corrosive injuries and laparotomy and resection of damaged segments may be beneficial in the treatment of these patients. Total esophagotomy or gastrectomy and placement of gastrostoma or jejunostoma for artificial nutrition are made., Pathophysiology : In contact with acids, tissue proteins are transformed into acid proteins and hemoglobin is transformed into hematine. The final outcome is the so-called coagulation necrosis.In contact with alkalis, tissue proteins are transformed into proteinates and fats into soaps, resulting in penetrating, that is liquefaction necrosis.Corrosive substances with a Ph of less than 2 or greater than 12 are highly corrosive and can cause tissue necrosis. A concentrated solution of sodium hydroxide (22.5% and 30%) in contact with the esophagus can produce perforation of the esophageal wall, mediastinitis and fatal outcome for 10 seconds or for 1 second.Few hours after corrosive ingestion, thrombosis of small vessels appears, producing heat that exacerbates the injury. These processes in the esophageal wall and stomach continue in the next several days when bacterial invasion occurs as well as the so-called inflammatory response and development of granulation tissue., Epidemiology : 2.5–5% while the morbidity is above 50% and the mortality is 13%., variable, Stringent legislation is necessary for developing countries to curtail the sale of caustics in unlabeled containers and limit unrestricted access of adults to dangerous corrosive agents., The packing of these agents should be made childproof to prevent accidental ingestion by children., Complications : Esophageal Cancer, GASTRIC CANCER, renal failure, esophageal stricture, Diagnostics : Complete Blood Count CBC, ESOPHAGOSCOPY, Differential diagnosis : chemical pneumonitis, dysphagia, PNEUMONIA, disease description : Oral intoxication with corrosive agents occurs by ingestion of : acids (hydrochloric, acetic, sulfuric, lactic, oxalic, carbolic), alkalis (sodium and potassium, soaps, detergents), heavy metal salts (sublimate), formalin, iodine tincture and many other chemical substances. Lye is a general term in the American literature, denoting strong alkali found in cleansing agents.In our environment the most common abused acid is hydrochloric acid (more than 50%), which is easily accessible as a sanitary cleansing agent.Beside acids, corrosive alkalis are also being abused, such as sodium hydroxide (NaOH) and potassium hydroxide (KOH).

Cortical Lesion

Disease Name : Cortical Lesion, Treatment : nan, Pathophysiology : nan, Epidemiology : nan, Complications : nan, Diagnostics : MRI, Differential diagnosis : nan, disease description : nan

Cortical Necrosis

Disease Name : Cortical Necrosis, Treatment : DIALYSIS, Most cases of renal cortical necrosis require initial treatment in an intensive care,setting. It is important to prevent or treat the underlying cause of acute cortical,necrosis, when possible. Therapy involves medical management of acute renal,failure, often with the initiation of dialysis as indicated. Management is,otherwise supportive and involves volume repletion, correction of asphyxia, and,treatment of sepsis., Pathophysiology : In newborns, cortical necrosis is most commonly associated with hypoxic or ischemic insults caused by perinatal asphyxia, placental abruption, and twin– twin or fetal-maternal transfusion. Other causes include renal vascular thrombosis and severe congenital heart disease. After the neonatal period, cortical necrosis is most commonly seen in children with septic shock or severe hemolytic-uremic syndrome. In adolescents and women, cortical necrosis occurs in association with obstetric complications, including prolonged intrauterine fetal death, placental abruption, septic abortion, or amniotic fluid embolism. Less-common causes of cortical necrosis include malaria, extensive burns, snakebites, infectious endocarditis, and medications (e.g., nonsteroidal antiinflammatory agents). Acute renal cortical necrosis has also been reported to occur in systemic lupus erythematosus–associated antiphospholipid antibody syndrome.The presumed initiating factor in many cases is intense vasospasm of the small vessels. When prolonged, this leads to necrosis and thrombosis of the distal arterioles and glomeruli, with ensuing cortical necrosis. In hemolytic-uremic syndrome and septic abortion, endotoxin-mediated endothelial damage contributes to worsening vascular thrombosis., Epidemiology : 2% of all cases of acute renal failure (ARF) in adults, poor, you can make changes to your lifestyle to keep your kidneys healthy, take medications to treat the causes or complications of kidney damage, undergo dialysis, or have a kidney transplant., Complications : chronic kidney disease, hyperkalemia, Diagnostics : ABG, Complete Blood Count CBC, Hb, PLATELET COUNT, Renal Biopsy, SERUM Creatinine, serum potassium K+, URINARY PROTEIN, MRI, RENAL ARTERY VELOCITY DOPPLER USG, CT SCAN, kidney biopsy, BLOOD IN URINE TEST, BLOOD pH, Differential diagnosis : acute kidney injury, Glomerulonephritis, disease description : Renal cortical necrosis is a rare cause of severe acute kidney injury occurring secondary to extensive ischemic damage of the renal cortex. Ischemic necrosis is due to markedly decreased renal arterial perfusion as a result of vascular spasm, microvascular injury, or intravascular coagulation. Renal cortical necrosis is usually bilateral and extensive, although focal and patchy forms have also been described. The medulla, the juxtamedullary cortex, and a thin rim of subcapsular cortex are usually spared. It occurs most commonly in neonates and in adolescents of childbearing age.

Cortisone Reductase Deficiency (crd)

Disease Name : Cortisone Reductase Deficiency (crd), Treatment : There is no treatment for cortisone reductase deficiency. Shots of cortisol are quickly metabolised into cortisone by the dysregulated 11ß-HSD1 enzyme; however, symptoms can be treated. Treatment of hyperandroginism can be done through prescription of antiandrogens. They do so by inhibiting the release of gonadotropin and luteinizing hormone, both hormones in the pituitary, responsible for the production of testosterone ., Pathophysiology : In a healthy body, blood cortisone and cortisol levels are roughly equimolar. Cortisone reductase deficiency leads to an elevated level of inert cortisone to active cortisol in adipose tissue. Cortisone reductase deficiency is caused by dysregulation of the 11ß-hydroxysteroid dehydrogenase type 1 enzyme, otherwise known as cortisone reductase. The 11ß-HSD1 enzyme is responsible for catalyzing the interconversion of circulating cortisone to cortisol, using NADH as a co-factor. The oxidative or reductive capacity of the enzyme is regulated by NADH produced by hexose-6-phosphate dehydrogenase (H6PD). H6PD is distinct from its isozyme, glucose-6-phosphate dehydrogenase (G6PDH) in that G6PDH is a cytolytic enzyme and draws from a separate pool of NAD+. H6PD is also capable of catalyzing the oxidation of several phosphorylated hexoses, while G6PDH shows affinity for glucose, specifically. The enzyme cortisone reductase exists in a tightly controlled reaction space, facing the lumen of the endoplasmic reticulum of cells in the liver and lungs. NADH produced by hexose-6-phosphate is delivered directly to the catalytic site of cortisone reductase. If NADH production is limited, then cortisone reductase is also capable of catalysing the reverse reaction taking circulating cortisol and reducing it to cortisone. Dysregulation of hexose-6-phosphate dehydrogenase occurs as a result of gene mutation. Cortisol is important in signalling inhibition of adrenocorticotropic hormone release from the pituitary. Reduced cortisol in circulation activates the H-P-A Axis to produce and release more cortisol, and therefore androgen ., Epidemiology : approximately 0.1%, variable, NA, Complications : nan, Diagnostics : ACTH, Complete Blood Count CBC, GENETIC TESTING, PHYSICAL EXAMINATION, Differential diagnosis : "conns syndrome", cortisone reductase deficiency 2, Hyperandrogenism, lipoid congenital adrenal hyperplasia, Polycystic Ovarian Disease, disease description : c?ortisone reductase deficiency is caused by dysregulation of the 11ß-hydroxysteroid dehydrogenase type 1 enzyme (11ß-HSD1), otherwise known as cortisone reductase, a bi-directional enzyme, which catalyzes the interconversion of cortisone to cortisol in the presence of NADH as a co-factor. If levels of NADH are low, the enzyme catalyses the reverse reaction, from cortisol to cortisone, using NAD+ as a co-factor..One of the symptoms of cortisone reductase deficiency is hyperandrogenism, resulting from activation of the Hypothalamic–pituitary–adrenal axis. The deficiency has been known to exhibit symptoms of other disorders such as Polycystic Ovary Syndrome in women. Cortisone Reductase Deficiency alone has been reported in fewer than ten cases in total, all but one case were women. Elevated activity of 11ß-HSD1 can lead to obesity or Type II Diabetes, because of the role of cortisol in carbohydrate metabolism and gluconeogenesis .

Covid-19

Disease Name : Covid-19, Treatment : medication : Hydrocortisone , Tocilizumab, Casirivimab+Imdevimab, Pathophysiology : The pathophysiology of COVID-19 involves several key processes : Viral Entry : The SARS-CoV-2 virus enters the body primarily through respiratory droplets when an infected individual coughs, sneezes, talks, or breathes. The virus binds to the angiotensin-converting enzyme 2 (ACE2) receptors on the surface of cells, particularly those in the respiratory tract, including the nasal passages, throat, and lungs.Cellular Invasion and Replication : After binding to ACE2 receptors, the virus enters host cells, particularly the respiratory epithelial cells. Once inside the host cell, the viral RNA is released, and the viral genome uses the host cell machinery to replicate, producing more viral particles.Inflammatory Response : The presence of the virus triggers an immune response in the body, leading to the activation of immune cells and the release of pro-inflammatory cytokines. In some cases, this immune response can become dysregulated and excessive, resulting in a cytokine storm. The cytokine storm can cause widespread inflammation, tissue damage, and disruption of normal organ function., Epidemiology : COVID-19 outbreak as a global pandemic as reported cases reach 200, 000 people, variable, The best defense to prevent getting COVID-19 is to get vaccinated. You should also follow the same steps you would take to prevent getting other viruses, such as the common cold or the flu.,,Wash your hands for at least 20 seconds — especially before eating and preparing food, after using the bathroom, after wiping your nose, and after coming in contact with someone who has a cold.,Wear a multilayered cloth facemask that fits snugly on your face and covers your mouth, nose and chin as recommended by the CDC.,Avoid touching your eyes, nose and mouth to prevent the spread of viruses from your hands.,Cover your mouth and nose with a tissue when sneezing and coughing or sneeze and cough into your sleeve. Throw the tissue in the trash. Wash your hands afterward. Never cough or sneeze into your hands!,Avoid close contact (within 6 feet) with those who have coughs, colds or are sick. Stay home if you’re sick.,If you’re prone to sickness or have a weakened immune system, stay away from large crowds of people. Follow the directions of your healthcare authorities, especially during outbreaks.,Clean frequently used surfaces (such as doorknobs and countertops) with a virus-killing disinfectant.,Use hand sanitizers that contain at least 60% alcohol if soap and water are not available.,Greet people with a friendly gesture instead of shaking hands.,Get enough sleep, eat a healthy diet, drink plenty of liquids and exercise if you are able. These steps will strengthen your immune system and help you fight off infections more easily., Complications : acute kidney injury, PNEUMONIA, heart problem, Coagulopathy, secondary infection, organ failure, Diagnostics : BLOOD CULTURE test, Complete Blood Count CBC, Erythrocyte Sedimentation Rate (ESR), HRCT LUNG, CT CHEST, PLASMA D DIMER ELISA, CHEST X RAY, RAPID ANTIGEN DETECTION, CT SCAN, SERUM FERRITIN LEVEL, RT PCR, Differential diagnosis : Eosinophilic pneumonia, neurological problem, Respiratory tract infection, disease description : ?Coronaviruses are a family of viruses that can cause respiratory illness in humans. They are called “corona” because of crown-like spikes on the surface of the virus. Severe acute respiratory syndrome (SARS), Middle East respiratory syndrome (MERS) and the common cold are examples of coronaviruses that cause illness in humans.The new strain of coronavirus — SARS-CoV-2 — was first reported in Wuhan, China in December 2019. It has since spread to every country around the world.

Cowpox

Disease Name : Cowpox, Treatment : medication : Cidofovir , cidofovir or antivaccinia gammaglobulin may be considered., No treatment is required unless secondary bacterial infection ,occurs. Cidofovir cream may be of benefit but has not been trialled., Pathophysiology : In lesions, the epidermis is necrotic with prominent eosinophilic intracytoplamic inclusions. Causative organisms Cowpoxvirus is an orthopoxvirus, endemic in Europe and Russia. Viral isolates can be divided into two clades, one of which is more closely related to vaccinia virus. The skin lesion develops between 5 and 7 days (range 2–14) after contact with an infected animal. It starts as a painful papule and evolves rapidly to become vesicular, pustular or haemorrhagic with surrounding erythema. The centre may show umbilication. In the second week, the lesion can erode and form a dark crust usually between 1 and 3 cm in diameter. There is often associated lymphangitis and lymphadenitis with general features of malaise, low-grade fever and myalgia. Lesions are most commonly found on the hands, arms or face. One or a few lesions is the norm, but sporotrichoid spread can occur. Rarely, lesions present on mucosal surfaces such as the genitalia or near the eyes. Scarring can be of greater significance if the lesions are near the eye, on the ear or if large with wider local necrosis., Epidemiology : 150 human cases reported, The lesion usually heals with scarring in 2–4 week, One may prevent infection with cowpox virus by avoiding exposure to sick cats or other sick animals. ,Recombinant vaccines against cowpox are being studied in mice and may eventually be available for human use, Complications : conjunctivitis, KERATITIS, corneal erosions, Diagnostics : PCR OF TISSUE/PUS, ELECTRON MICROSCOPY, Differential diagnosis : Anthrax, chickenpox, HERPES SIMPLEX, sporotrichosis, disease description : Cowpoxvirus infection causes inflammatory vesicular lesions which crust and heal with superficial scarring. Incidence and prevalence The natural reservoir of the virus is wild rodents but cattle and zoo animals can be infected. Humans are more commonly infected from domestic cats or pet rodents. There is a seasonal increase in summer and autumn

Coxa Vara

Disease Name : Coxa Vara, Treatment : subtrochanteric,corrective osteotomy., Pathophysiology : The pathophysiology of coxa vara involves alterations in the structure and alignment of the hip joint, which can affect its function and biomechanics. The decreased angle between the femoral neck and shaft can result in the following : Abnormal Load Distribution : The altered angle in coxa vara can disrupt the normal distribution of forces across the hip joint. This can result in abnormal stress concentration on specific regions of the joint, potentially leading to accelerated wear and tear, cartilage damage, and early-onset osteoarthritis.Gait and Mobility Issues : Coxa vara can affect an individuals gait (walking pattern) and mobility. The altered anatomy of the hip joint can cause an abnormal movement pattern, potentially resulting in a limp, reduced range of motion, and difficulties with weight-bearing activities.Leg Length Discrepancy : Depending on the severity of coxa vara, it can lead to a leg length discrepancy, with the affected side being shorter than the unaffected side. This can further contribute to gait abnormalities and functional limitations., Epidemiology : 1 in 25, 000 children, GOOD, To Do : .The best preventive measure for poliomyelitis is ensuring hygiene and encouraging good sanitation practices.,.Prevention for polio involves practicing good hygiene and immunization. Two vaccines available are oral polio vaccine (OPV) and inactivated polio vaccine (IPV).,.It is also very important to practice good hand hygiene and wash hands often with soap and water.,.Note that alcohol-based hand sanitizers do not kill poliovirus ., Complications : fracture, Diagnostics : Complete Blood Count CBC, MRI, X RAY, CT SCAN, PHYSICAL EXAMINATION, Differential diagnosis : fibrous dysplasia, osteomyelitis, "PAGETS DISEASE OF BONE", disease description : Coxa vara is a term used to describe a reduced angle between the neck and shaft of the femur. It may be congenital or acquired. coxa vara describes a deformity of the hip where the femoral neck shraft angle is decreased, usually defined as less than 120 degrees .

Craniopharyngioma (who Grade 1)

Disease Name : Craniopharyngioma (who Grade 1), Treatment : Radiation treatment is used in patients with residual disease or to prevent recurrences. Radiation therapy includes conventional external radiotherapy, proton beam therapy, stereotactic radiotherapy, radiosurgery, and brachytherapy., Surgical intervention is indicated to confirm the diagnosis, tumors causing neurologic deficits, pituitary dysfunction, and hydrocephalus. The most common surgical approaches are endoscopic endonasal transsphenoidal (EET) or transcranial, depending on the location of craniopharyngioma. Extension of resection is a matter of debate. Gross total resection has been associated with an increased incidence of post-surgical deficits, with no change in the recurrence rates., Pathophysiology : The most common location of craniopharyngioma is the sellar/suprasellar region, with 95% of craniopharyngiomas having a suprasellar component. Its location defines its pathophysiology. Craniopharyngiomas can compress normal pituitary tissue and result in pituitary deficiencies, particularly of the anterior pituitary hormones. It can also compress the optic chiasm and/or optic nerves and cause different degrees and types of visual disturbances, from blurry vision to blindness. It can also present with hydrocephalus secondary to third ventricle compression. , Epidemiology : high recurrence rate of approximately 50%, incidence of 0.5 to 2 cases per million persons per year, The prognosis is good in young individuals and poo, These tumors can’t be prevented. These tumors develop due to changes in your or your child’s cells that happened while your or your child’s body was being formed., Complications : respiratory problems, seizures, stroke, Cardiac Complications, HORMONAL IMBALANCE, Diagnostics : ACTH, Cortisol, Follicle Stimulating Hormone FSH, Free T4, Growth Hormone, VISUAL ACUITY TEST, MRI, CT SCAN, Differential diagnosis : arachnoid cyst, Langerhans-cell histiocytosis, Meningitis, migraine, Multiple Sclerosis, Optic gliomas, Pituitary adenoma, Rathke’s cyst, disease description : Craniopharyngiomas are rare, benign tumors of the central nervous system. Craniopharyngiomas are epithelial tumors that typically arise in the suprasellar area of the brain, extending to involve the hypothalamus, optic chiasm, cranial nerves, third ventricle, and major blood vessels. 

Crao (central Retinal Artery Occlusion)

Disease Name : Crao (central Retinal Artery Occlusion), Treatment : medication : Bevacizumab , Acetazolamide, Timolol , IV acetazolamide : Reduce intraocular pressure.,,IV mannitol : Reduce intraocular pressure.,,Topical antiglaucoma medications : \tReduce intraocular pressure.,,Pentoxifylline : Vasodilation to increase blood oxygen content.,,Inhalation of carbogen : \tVasodilation to increase blood oxygen content.,,Sublingual isosorbide dinitrate : \tVasodilation to increase blood oxygen content.,IV methylprednisolone\tReduce retinal edema, only given in arteritic CRAO., Anterior chamber paracentesis\t,Ocular massage,Nd : YAG laser embolectomy\t,Pars plana vitrectomy, Pathophysiology : The central retinal artery is the first intraorbital branch of the ophthalmic artery. It enters the optic nerve 1 cm posterior to the globe and supplies blood to the retina. Occlusion of the central retinal artery results in retinal ischemia, vision loss, and eventual necrosis. Acutely, CRAO results in retinal edema and pyknosis of the ganglion cell nuclei. As ischemia progresses the retinal becomes opacified and yellow-white in appearance. In experimental models of complete CRAO, permanent retinal damage occurs in just over 90 minutes.In the clinical setting where occlusion may be incomplete, the return of vision may be achieved after delays of 8 to 24 hours. Approximately 15% of the population receives significant macular collateral circulation from the cilioretinal artery. Patients with this anatomical variant typically have less severe presentations and better long-term prognoses. , Epidemiology : 1 per 100, 000 people, Men have a slightly higher incidence than women., variable, Central retinal artery occlusion is often linked to diabetes or heart problems. But these health problems don’t directly cause it. A good preventive step is to keep your heart healthy. You can do this by : ,,Staying at a healthy weight,Eating a healthy diet,Exercising regularly,Not smoking,Also, if you have diabetes, work to keep your blood sugar at a healthy level., Complications : Loss of vision, Neovascularization of retina, Diagnostics : random blood sugar RBS, Complete Blood Count CBC, CRP, Differential Leucocyte Count DLC, Erythrocyte Sedimentation Rate (ESR), Total Leucocyte Count (TLC), VISUAL ACUITY TEST, CT HEAD, PT/INR, MRI, USG, ophthalmoscopy, Fundus fluorescein angiography (FFA), Differential diagnosis : RETINAL DETACHMENT, RETINAL VEIN OCCLUSIONS, Vitreous hemorrhage, disease description : Central retinal artery occlusion (CRAO) is the sudden blockage of the central retinal artery, resulting in retinal hypoperfusion, rapidly progressive cellular damage, and vision loss. Retina survival depends on the degree of collateralization and the duration of retinal ischemia. Prompt diagnosis and early treatment to dislodge or lyse the offending embolus or thrombus is crucial to avoid irreversible retinal damage and blindness.

Creatine Deficiency Syndrome (arginine

Disease Name : Creatine Deficiency Syndrome (arginine : glycine Amidinotransferase Deficiency (agat Deficiency), Treatment : CRTR deficiency (caused by pathogenic variants in SLC6A8) is inherited in an X-linked manner., . CRTR deficiency is treated with oral creatine monohydrate and arginine and glycine supplementation. The developmental delay, intellectual disability, and behavior problems are managed with an individualized education and therapy program; epilepsy and movement disorder are treated by the appropriate specialist in a standard manner., Pathophysiology : This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females  , a mutation in one of the two copies of the gene in each cell may or may not cause the disorder. In males , a mutation in the only copy of the gene in each cell causes the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.In most cases of X-linked inheritance, males experience more severe symptoms of the disorder than females. About half of females with one mutated copy of the SLC6A8 gene in each cell have intellectual disability, learning difficulties, or behavioral problems. Other females with one mutated copy of the SLC6A8 gene in each cell have no noticeable neurological problems., Epidemiology : About 130 individuals with GAMT deficiency have been diagnosed worldwide., The estimated incidence of GAMT deficiency in the general population ranges from 1 : 2, 640, 000 to 1 : 250, 000, variable, "This condition is inherited in an autosomal recessive pattern and therefore , it cant be prevented. ,,Although Genetic counselling is advisable.", Complications : developmental delay, motor\\/sensory\\/ cerebellar neurological deficits, intellectual disability, Diagnostics : CK (Creatine Kinase) test, Complete Blood Count CBC, MRI Brain, PHYSICAL EXAMINATION, molecular genetic testing, Differential diagnosis : Argininosuccinate lyase deficiency/Argininosuccini, Argininosuccinate synthetase deficiency, Ornithine transcarbamylase deficiency, Pyruvate carboxylase deficiency, disease description : Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine : glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.

Creutzfeldt Jacob Disease

Disease Name : Creutzfeldt Jacob Disease, Treatment : no definitive treatment for CJD, Pathophysiology : Normal cellular prion protein (PrP) is found on the membranes of cells throughout the body, even in healthy people and animals. It has complex functions that are yet to be fully discovered. CJD is caused by the transformation of the normal cellular prion protein PrP into an abnormal, structurally changed, disease-causing form called the prion PrP scrapie (the prion disease of sheep and goats), which then self-propagates and accumulates throughout the brain. The infectious isoform known as PrP scrapie triggers the normal PrP proteins to convert into the infectious isoform (PrP) scrapie by inducing a structural change in native prion proteins, which accounts for its infective capacity. It is believed that both the transformation of prion proteins into prions and the accumulation of prions lead to neurodegeneration., Epidemiology : 1 to 2 cases per 1 million population per year., variable, Almost all cases of CJD are unpreventable, and there’s almost no way to reduce your risk of developing this condition. The one exception to this is variant CJD, which you can get from eating beef from a cow that had bovine spongiform encephalopathy.,,Animal inspections help keep cattle with BSE out of the food supply in developed countries. However, animals that weren’t inspected or processed in a regulated facility could still pose a risk. Because of that, you should be very cautious about eating meat in developing areas or countries. In general, you should avoid meat from unregulated sources, especially brain tissue, bone marrow or products that contain either., Complications : coma, death, Dementia, Diagnostics : CSF Cerebro Spinal Fluid Protein, Protein, BRAIN BIOPSY, MRI Head, ECG, EEG, MRI, Differential diagnosis : Alzheimers Disease, autoimmune disease, Neurodegeneration, disease description : Creutzfeldt-Jakob disease, also known as CJD, is a rare brain disorder that leads to dementia. It belongs to a group of human and animal diseases known as prion disorders. Symptoms of Creutzfeldt-Jakob disease can be similar to those of Alzheimers disease. But Creutzfeldt-Jakob disease usually gets worse much faster and leads to death.

Crigler Najjar Syndrome

Disease Name : Crigler Najjar Syndrome, Treatment : medication : Phenobarbital/Phenobarbitone, Plasmapherersis has been used to rapidly lower bilirubin levels in the blood. Plasmapheresis is a method for removing unwanted substances (toxins, metabolic substances and plasma components) from the blood. During plasmapheresis, blood is removed from the affected individual and blood cells are separated from plasma. The plasma is then replaced with other human plasma and the blood is transfused back into the affected individual., The mainstay of treatment for Crigler-Najjar syndrome type I is aggressive phototherapy. During this procedure, the bare skin is exposed to intense light, while the eyes are shielded., Liver transplantation is the only definitive treatment for individuals with Crigler-Najjar syndrome type I., Pathophysiology : CN type I is a rare, autosomal recessive disease caused by homozygous or compound heterozygous mutations in the UGT1A1 gene which result in a premature stop codon or frameshift mutation and complete absence of UGT1A1 activity. At least 59 mutations have been identified to date. Parents of affected children have partial defects in conjugation, as determined by hepatic specific enzyme assay or by measurement of glucuronide formation but have normal serum unconjugated bilirubin levels., Epidemiology : 1 in 750, 000-1, 000, 000 people in the general population, variable, You can’t prevent Crigler-Najjar syndrome because it’s a genetic condition. ,If you plan on becoming pregnant and want to understand your risk of having a child with a genetic condition, talk with your healthcare provider about genetic testing., Complications : CHOLELITHIASIS, CIRRHOSIS, jaundice, Kernicterus, Diagnostics : Complete Blood Count CBC, Serum Bilirubin (Total ), LIVER FUNCTION TEST LFT, X RAY, molecular genetic testing, Differential diagnosis : Gilbert syndrome/ Hyperbilirubinemia, Hypothyroidism, Rotor Syndrome, disease description : Crigler-Najjar syndrome is a rare autosomal recessive inherited disorder characterized by the absence or decreased activity of UDP-glucuronosyltransferase, an enzyme required for glucuronidation of unconjugated bilirubin in the liver. It is one of the major causes of congenital non-hemolytic jaundice. The increased concentration of unconjugated bilirubin is the sole cause of disease manifestation. The disease severity depends upon the number of enzymes produced required for the glucuronidation of bilirubin. Newborns may present with hyperbilirubinemia, but other signs progressively develop later in life.

Crimean Congo Hemorrhagic Fever

Disease Name : Crimean Congo Hemorrhagic Fever, Treatment : fluid balance and correction of electrolyte abnormalities, oxygenation and hemodynamic support, virus is sensitive in vitro to the antiviral drug ribavirin, Pathophysiology :  One is that the virus interacts with the ECs directly and the other that it interacts indirectly via immune cells with subsequent release of soluble mediators. ECs are activated upon infection by the upregulation of soluble molecules and proinflammatory cytokines. Probably, in severe cases, deregulation and excessive release of the cytokines accompanied by endothelial activation have toxic effects, leading to increased vascular permeability, vasodilatation, and subsequently hypotension, multiple organ failure, shock, and death. Studies indicate that CCHF virus (CCHFV) also can impair the innate immune system and cause a delay in adaptive immune response, which is critical for the clearance of CCHFV. The virus has many different ways to block the immune response, leading to uncontrolled viral replication followed by systemic spread of the virus throughout the body. Partial activation of dendritic cells and macrophages, delayed induction of interferons, weak antibody response, apoptosis of lymphocytes, and hemophagocytosis are some of these tactics. However, there are many points waiting for clarification about the pathogenesis of CCHF. Although the high risk of contagiousness limits research, we need more studies to understand the CCHF pathogenesis better. Here we review the main characteristics of the pathogenesis of CCHF., Epidemiology : The overall prevalence of CCHFV recorded in 35, 198 human participants with acute infections recruited from 62 articles (67 reported prevalence data) was 22.5%, 0.13 cases per 100, 000 population/year, variable, It is difficult to prevent or control CCHF infection in animals and ticks as the tick-animal-tick cycle usually goes unnoticed and the infection in domestic animals is usually not apparent. Furthermore, the tick vectors are numerous and widespread, so tick control with acaricides (chemicals intended to kill ticks) is only a realistic option for well-managed livestock production facilities.,,Reducing the risk of infection in people - ,Key facts,The Crimean-Congo haemorrhagic fever (CCHF) virus causes severe viral haemorrhagic fever outbreaks.,CCHF outbreaks have a case fatality rate of up to 40%.,The virus is primarily transmitted to people from ticks and livestock animals. Human-to-human transmission can occur resulting from close contact with the blood, secretions, organs or other bodily fluids of infected persons.,CCHF is endemic in Africa, the Balkans, the Middle East and Asia, in countries south of the 50th parallel north.,There is no vaccine available for either people or animals.,Overview,Crimean-Congo haemorrhagic fever (CCHF) is a widespread disease caused by a tick-borne virus (Nairovirus) of the Bunyaviridae family. The CCHF virus causes severe viral haemorrhagic fever outbreaks, with a case fatality rate of 10–40%.,,CCHF is endemic in Africa, the Balkans, the Middle East and Asian countries south of the 50th parallel north – the geographical limit of the principal tick vector.,,The Crimean-Congo haemorrhagic fever virus in animals and ticks,The hosts of the CCHF virus include a wide range of wild and domestic animals such as cattle, sheep and goats. Many birds are resistant to infection, but ostriches are susceptible and may show a high prevalence of infection in endemic areas, where they have been at the origin of human cases. For example, a former outbreak occurred at an ostrich abattoir in South Africa. There is no apparent disease in these animals.,,Animals become infected by the bite of infected ticks and the virus remains in their bloodstream for about one week after infection, allowing the tick-animal-tick cycle to continue when another tick bites. Although a number of tick genera are capable of becoming infected with CCHF virus, ticks of the genus Hyalomma are the principal vector.,,Transmission,The CCHF virus is transmitted to people either by tick bites or through contact with infected animal blood or tissues during and immediately after slaughter. The majority of cases have occurred in people involved in the livestock industry, such as agricultural workers, slaughterhouse workers and veterinarians.,,Human-to-human transmission can occur resulting from close contact with the blood, secretions, organs or other bodily fluids of infected persons. Hospital-acquired infections can also occur due to improper sterilization of medical equipment, reuse of needles and contamination of medical supplies.,,Signs and symptoms,The length of the incubation period depends on the mode of acquisition of the virus. Following infection by a tick bite, the incubation period is usually one to three days, with a maximum of nine days. The incubation period following contact with infected blood or tissues is usually five to six days, with a documented maximum of 13 days.,,Onset of symptoms is sudden, with fever, myalgia, (muscle ache), dizziness, neck pain and stiffness, backache, headache, sore eyes and photophobia (sensitivity to light). There may be nausea, vomiting, diarrhoea, abdominal pain and sore throat early on, followed by sharp mood swings and confusion. After two to four days, the agitation may be replaced by sleepiness, depression and lassitude, and the abdominal pain may localize to the upper right quadrant, with detectable hepatomegaly (liver enlargement).,,Other clinical signs include tachycardia (fast heart rate), lymphadenopathy (enlarged lymph nodes), and a petechial rash (a rash caused by bleeding into the skin) on internal mucosal surfaces, such as in the mouth and throat, and on the skin. The petechiae may give way to larger rashes called ecchymoses, and other haemorrhagic phenomena. There is usually evidence of hepatitis, and severely ill patients may experience rapid kidney deterioration, sudden liver failure or pulmonary failure after the fifth day of illness.,,The mortality rate from CCHF is approximately 30%, with death occurring in the second week of illness. In patients who recover, improvement generally begins on the ninth or tenth day after the onset of illness.,,Diagnosis,CCHF virus infection can be diagnosed by several different laboratory tests : ,,enzyme-linked immunosorbent assay (ELISA) ;,antigen detection;,serum neutralization;,reverse transcriptase polymerase chain reaction (RT-PCR) assay; and,virus isolation by cell culture.,Patients with fatal disease, as well as in patients in the first few days of illness, do not usually develop a measurable antibody response and so diagnosis in these individuals is achieved by virus or RNA detection in blood or tissue samples.,,Tests on patient samples present an extreme biohazard risk and should only be conducted under maximum biological containment conditions. However, if samples have been inactivated (e.g. with virucides, gamma rays, formaldehyde, heat, etc.), they can be manipulated in a basic biosafety environment.,,Treatment,General supportive care with treatment of symptoms is the main approach to managing CCHF in people.,,The antiviral drug ribavirin has been used to treat CCHF infection with apparent benefit. Both oral and intravenous formulations seem to be effective.,,Prevention and control,Controlling CCHF in animals and ticks,Crimean-Congo-310px,,Ticks of the genus Hyalomma are the principal vector of Crimean-Congo haemorrhagic fever. Photo : Robert Swanepoel/NICD South Africa,,It is difficult to prevent or control CCHF infection in animals and ticks as the tick-animal-tick cycle usually goes unnoticed and the infection in domestic animals is usually not apparent. Furthermore, the tick vectors are numerous and widespread, so tick control with acaricides (chemicals intended to kill ticks) is only a realistic option for well-managed livestock production facilities.,,For example, following an outbreak at an ostrich abattoir in South Africa (noted above), measures were taken to ensure that ostriches remained tick free for 14 days in a quarantine station before slaughter. This decreased the risk for the animal to be infected during its slaughtering and prevented human infection for those in contact with the livestock.,,There are no vaccines available for use in animals.,,Reducing the risk of infection in people,Although an inactivated, mouse brain-derived vaccine against CCHF has been developed and used on a small scale in eastern Europe, there is currently no safe and effective vaccine widely available for human use.,,In the absence of a vaccine, the only way to reduce infection in people is by raising awareness of the risk factors and educating people about the measures they can take to reduce exposure to the virus.,,Public health advice should focus on several aspects.,,Reducing the risk of tick-to-human transmission : ,wear protective clothing (long sleeves, long trousers);,wear light coloured clothing to allow easy detection of ticks on the clothes;,use approved acaricides (chemicals intended to kill ticks) on clothing;,use approved repellent on the skin and clothing;,regularly examine clothing and skin for ticks; if found, remove them safely;,seek to eliminate or control tick infestations on animals or in stables and barns; and,avoid areas where ticks are abundant and seasons when they are most active.,Reducing the risk of animal-to-human transmission : ,wear gloves and other protective clothing while handling animals or their tissues in endemic areas, notably during slaughtering, butchering and culling procedures in slaughterhouses or at home;,quarantine animals before they enter slaughterhouses or routinely treat animals with pesticides two weeks prior to slaughter.,Reducing the risk of human-to-human transmission in the community : ,avoid close physical contact with CCHF-infected people;,wear gloves and protective equipment when taking care of ill people;,wash hands regularly after caring for or visiting ill people.,,Controlling infection in health-care settings -,Health-care workers caring for patients with suspected or confirmed CCHF, or handling specimens from them, should implement standard infection control precautions. These include basic hand hygiene, use of personal protective equipment, safe injection practices and safe burial practices.,,As a precautionary measure, health-care workers caring for patients immediately outside the CCHF outbreak area should also implement standard infection control precautions.,,Samples taken from people with suspected CCHF should be handled by trained staff working in suitably equipped laboratories.,,Recommendations for infection control while providing care to patients with suspected or confirmed Crimean-Congo haemorrhagic fever should follow those developed by WHO for Ebola and Marburg haemorrhagic fever., Complications : , Diagnostics : ELISA, RT PCR AMPLIFICATION, Immunostaining, Differential diagnosis : , disease description : CCHF is a zoonotic viral disease caused by tick-borne virus Nairovirus (family Bunyaviridae). The disease has a wide distribution that correlates with the global distribution of Hyalomma tick, the vector responsible for viral transmission. The disease is generally asymptomatic in infected animals but highly fatal in humans. The disease in humans begins as non-specific febrile symptoms, which progress to hemorrhagic syndrome. Although tick is a major vector in transmission of the disease, further secondary cases are frequently seen due to human to human transmission via percutaneous or per mucosal exposure to blood and body fluids containing the virus. This uncommon transmission takes place most often among healthcare workers in hospital settings, thus posing a significant nosocomial hazard

Crohns Disease

Disease Name : Crohns Disease, Treatment : medication : Tacrolimus , In patients who have no systemic disease, topical measures may,be suffi cient to control the cutaneous lesions, that is the use of an,super-potent topical steroid or topical tacrolimus . Severe disease may respond to oral steroids but recalcitrant ulcerative ano-,genital lesions and fi stulous tracts may require infl iximab, Pathophysiology : The pathophysiology is multifactorial and involves genetic predisposition, infectious, immunological, environmental, and dietary. The characteristic transmural inflammation can include the entire GI tract from mouth to the perianal area; although most frequently involve terminal ileum and right colon. The initial lesion starts out as an infiltrate around an intestinal crypt. This goes on to develop ulceration first in the superficial mucosa and involves deeper layers. As the inflammation progresses, non-caseating granulomas form involving all layers of the intestinal wall. It can develop into the classic cobblestone mucosal appearances and skip lesions along the length of the intestine sparing areas with normal mucosa. As the flare of Crohn settles, scarring replaces the inflamed areas of the intestines.Granuloma formation is very common in Crohn disease but their absence does not exclude the diagnosis. The ongoing inflammation and scarring lead to bowel obstruction and stricture formation. Crohn disease is also associated with enterovesical, enteroenteral, enterocutaneous, and enterovaginal fistulas., Epidemiology : 3.2/1000, Ano-genital lesions may occur in about 30% of pati, variable, There’s no way to prevent Crohn’s disease. These healthy lifestyle changes can ease symptoms and reduce flare-ups : ,,Stop smoking.,Eat a healthy, low-fat diet.,Exercise regularly.,Manage stress., Complications : CHOLELITHIASIS, EPISCLERITIS, Osteoporosis, RENAL CALCULI, squamous cell carcinoma not otherwise specified, strictures, Bowen disease, anemia, Diagnostics : Complete Blood Count CBC, biopsy, STOOL EXAMINATION, CT SCAN, Differential diagnosis : Amebiasis, "Behcets syndrome/disease", CELIAC DISEASE, Mesenteric ischemia, TUBERCULOSIS, Ulcerative Colitis, disease description : Crohn disease commonly referred to as inflammatory bowel disease (IBD). They are immunologically mediated inflammatory diseases of the gastrointestinal tract. In CD, the inflammation extends through the entire thickness of the bowel wall from the mucosa to the serosa. The disease runs a relapsing and remitting course. With multiple relapses, the CD can progress from initially mild to moderate inflammatory conditions to severe penetrating (fistulization) or stricturing disease) . Crohn disease can affect any part of the gastrointestinal tract.

Crush Injury And Syndrome

Disease Name : Crush Injury And Syndrome, Treatment : medication : Amoxicillin and Clavulanic acid , though this is the mainstay of treatment, no clearly enunciated formula exists. Early fluid resuscitation, within the first 6 hours, preferably before the victim is extricated is essential. There is a wide variation in the quantity of fluids infused. There are reports of greater than 25 litres of saline being given in one day. Of course, there is consensus on the fact that saline is the fluid to be given. To counter the metabolic acidosis, both bicarbonate and lactate or even oral citrate is essential.50 mmol of bicarbonate for every lit of isotonic saline . Close check is kept on the CVP, BP, pulmonary status and urinary output . Insulin glucose drip to reduce large rise in serum potassium concentration has been used. Patients with crush syndrome need numerous blood product transfusions and the inevitable logistic problem of collection, storage and transportation should be correctly addressed, Pathophysiology : Crush and rupture of muscle cells releases myoglobin, which gets converted to methmyoglobin and finally acid haematin, which is released into the circulation. Muscles also contain potassium, magnesium, phosphate, acids, enzymes like creatine phosphokinase (CKMM) and lactate dehydrogenase (LDH). Though essential for cell function, they are toxic when released into the circulation in large amounts. Regional ischemia caused by occlusion of micro and macrocirculation to muscles following crush, releases sodium, calcium and fluids leading to raised muscle volume and tension. CK and ATP are exhausted. Nitric oxide system is activated and this further contributes to muscle vasodilatation and aggravation of hypotension , Epidemiology : 2% to 15% in all trauma patients and it can be as high as 30% in earthquake victims., variable, Complications : death, organ failure, Diagnostics : Arterial Blood Gas Analysis(ABG), UREA CREATININE, URINE R/M, kidney function test KFT, MRI, X RAY, Urinary Myoglobin level, serum creatine phosphokinase, Urine analysis, Differential diagnosis : compartment syndrome, Contusion, degloving injury, disease description : Crush syndrome (also traumatic rhabdomyolysis or Bywaters syndrome) is a medical condition characterized by major shock and kidney failure after a crushing injury to skeletal muscle. Crush injury is compression of the arms, legs, or other parts of the body that causes muscle swelling and/or neurological disturbances in the affected areas of the body, while crush syndrome is localized crush injury with systemic manifestations. Cases occur commonly in catastrophes such as earthquakes, to individuals that have been trapped under fallen or moving masonry.

Crush Injury To The Hand

Disease Name : Crush Injury To The Hand, Treatment : "Treatment priorities : nan,The first priority is thorough cleaning and debridement of the wound. Next is stabilisation of fractures and,dislocations, and after that is wound closure,with or without skin graft, skin flaps etc. Nerves,and tendons may be repaired in the primary,phase of the care, but this is of secondary,importance.,Individual tissue considerations : Even debridement,of a crushed hand needs sufficiently experienced,surgeon. Skin should be excised conservatively.,Any enlargement of the skin wound must,not cross a skin crease. Skeletal stabilisation is performed if fracture or dislocation is unstable.,Joshis fixator (JESS system) is a versatile fixator,for stabilising all types of fractures of the bones,of the hand, with the possibility of adequate,soft tissue care. Small K-wires can also be used,for this purpose. Primary repair of the extensor,tendons, if ends can be visualised, is usually possible.,Repair of the flexor tendons must not be,attempted if the wound is grossly contaminated,or if extensive dissection is required to find its,ends. Cut ends of the tendons are either tagged,to each other or to the surrounding tissues in,order to prevent retraction. Secondary suture or,grafting can be carried out 3-6 weeks later in such,cases. Dead muscles, and those with doubtful,viability are excised with care to avoid nerves.,Digital nerves can be repaired primarily in a clean,wound, or they can be repaired after 3-6 weeks.,d) Proper splintage : , Proper splintage,of the hand during treatment is necessary, ,otherwise the ligaments at MP and IP joints,shorten, causing stiffness. The ideal position,of immobilisation is with the MP joints in 90°,of flexion and IP joints in extension (James,position). In this position, the collateral ligaments,of these joints are kept. If possible, the finger,tips are left visible to evaluate circulation from,time to time.,e) Supportive care : The following supportive care,is required : ,• Elevation of the hand for first 3-4 days to avoid,oedema • Finger movements to avoid oedema and,stiffness,• Antibiotics, prophylaxis against tetanus and,gas gangrene,• Suitable analgesics,• Dressings as necessary,f) Rehabilitation : In the initial period, this consists,of exercises, wax bath and splintage. Later, ,various appliances may be designed to help the,patient perform better. Once maximum benefit,has been obtained by physiotherapy, secondary,operations may be considered for further,improvement in functions.", Pathophysiology : nan, Epidemiology : not specific, Complications : nan, Diagnostics : X RAY AP VIEWS, X RAY, Differential diagnosis : nan, disease description : With industrialisation, the incidence of crush injury to the hand is on the rise. In developing countries, farm injuries, machine injuries and road traffic accidents constitute a majority of such injuries.

Crvo

Disease Name : Crvo, Treatment : medication : Prednisolone, Nepafenac , No totally effective medical treatment is available,Often treatment involves intravitreal injections of an anti-VEGF drug to reduce the new blood vessel growth and swelling. ,following medical treatments have been advocated with varying success : ,,Aspirin, Anti-inflammatory agents, Isovolemic hemodilution, Plasmapheresis,, Systemic anticoagulation, Fibrinolytic agents, Systemic corticosteroids,Intravitreal injection of alteplase, Intravitreal injection of ranibizumab, Intravitreal injection of triamcinolone, Intravitreal injection of bevacizumab, Intravitreal injection of aflibercept, Dexamethasone intravitreal implant., Surgical interventions include laser photocoagulation, chorioretinal venous anastomosis, radial optic neurotomy, and vitrectomy., Pathophysiology : Three main factors contribute to thrombosis : venous stasis, endothelial damage, and hypercoagulability. Any condition that causes an increase in these factors can precipitate a central retinal vein occlusion.Anatomically, the central retinal artery shares a common sheath of adventitia with the central retinal vein, located posterior to the lamina cribrosa at the arteriovenous crossing. Through the process of atherosclerosis, there may be compression of the vein by the artery. This can induce a central retinal vein occlusion., Epidemiology : prevalence of central retinal vein occlusion is 0.8 per 1000., better prognosis in younger patients, "Theres no cure for CRVO, but treatment can improve your vision or keep your symptoms from getting worse. ,Catching CRVO early and getting treatment as soon as possible can help lower the chance of vision loss. ,Treatments include : Injections", Complications : Macular edema, neovascular glaucoma, Vitreous hemorrhage, Diagnostics : random blood sugar RBS, Complete Blood Count CBC, CRP, Erythrocyte Sedimentation Rate (ESR), UREA CREATININE, ECG, ophthalmoscopy, Fundus examination, Differential diagnosis : BRANCH RETINAL VEIN OCCLUSION , Diabetic Retinopathy, Diabetic Retinopathy, OCULAR ISCHAEMIC SYNDROME, disease description : Retinal vein occlusion (RVO) is the second most common retinal vascular disease and is a common loss of vision in older patients. There are two types of RVO : Branch retinal vein occlusion (BRVO) and Central retinal vein occlusion (CRVO). Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis. Central retinal vein occlusion is further divided into two categories : non-ischemic (perfused) and ischemic (nonperfused). Branch retinal vein occlusion is a blockage of one of the tributaries of the central retinal vein.

Cryoglobulinaemia

Disease Name : Cryoglobulinaemia, Treatment : treatment of mixed cryoglobulinaemia is aimed at reducing,immune complex activity by immunosuppression (with prednisolone and cyclophosphamide) and plasmapheresis. In the presence of HCV infection, therapy should also be directed at viral,eradication with pegylated interferon and ribavirin. Recently,reports have demonstrated benefi t from the use of rituximab, a,chimeric monoclonal anti-CD20 antibody, that exerts a selective,B-cell control, Pathophysiology : Chronic immune stimulation and lymphoproliferation lead to increased production of higher levels of the mono-, oligo- or polyclonal immunoglobulins, leading to the formation of the cryoglobulins.There is the formation of the antigen-antibody complexes. Insufficient or poor clearance of the formed immune complexes leads to accumulation.Type I cryoglobulins are single monoclonal immunoglobulins usually associated with haematological disorders, such as multiple myeloma, macroglobulinaemia and lymphoma. These precipitate in blood vessels, leading to ischaemia from vascular occlusion. Type II mixed cryoglobulins are composed of a monoclonal component (usually IgM? ) with rheumatoid factor activity against polyclonal IgG. In type III mixed cryoglobulins, all the components are polyclonal . Mixed cryoglobulinaemia is most commonly associated with hepatitis C virus (HCV) infection and is mainly of type III . Other infections are also implicated in mixed cryoglobulinaemia, including hepatitis B and HIV, and cases are also seen in conjunction with autoimmune diseases such as Sjögren syndrome, systemic LE and rheumatoid arthritis. Mixed cryoglobulinaemia causes a systemic vasculitis with multiorgan involvement, mainly of the skin, joints, kidneys and peripheral nerves., Epidemiology : significant in about 1 in 100, 000, fair, There is no known prevention for the condition.,,Staying away from cold temperatures may prevent some symptoms.,Testing and treatment for hepatitis C infection will reduce your risk., Complications : liver damage, renal failure, Diagnostics : ANTI NUCLEAR ANTI BODY(ANA), HISTOPATHLOGY, Protein Electroproesis, SERUM Creatinine, Antibody Serology Tests, LIVER FUNCTION TEST LFT, Rheumatoid Factor Test, immunohistochemistry, SERUM IMMUNOGLOBULINS, Urine analysis, full thickness skin biopsy, Differential diagnosis : ANCA-associated vasculitis, Churg-Strauss Syndrome, HENOCH-SCHONLEIN PURURA, HYPERCOAGULBILITY, rheumatoid arthritis, Sjögren syndrome, systemic lupus erythematosus (SLE), thromboembolic disorders, disease description : Cryoglobulins are proteins that precipitate from an individual’s serum or plasma at temperatures lower than 37°C. They can be a mixture of immunoglobulin (Ig) and complement components or immunoglobulins alone. These cryoglobulins deposit in medium and large-sized blood vessels throughout the body, causing endothelial injury and end-organ damage known as cryoglobulinemia. Diagnosis of this entity should be suspected in patients presenting with skin ulcers, arthralgia, glomerulonephritis, neuropathy, and purpura.Brouet criteria classify cryoglobulinemia into three subgroups based on their immunoglobulin (Ig) composition .

Cryoglobulinaemic Vasculitis

Disease Name : Cryoglobulinaemic Vasculitis, Treatment : . In patients with,hepatitis C infection-combination of glucocorticoids, ,antiviral therapy and immunomodulatory agents Interferon a in combination with ribavirin is beneficial, Pathophysiology : The mechanism for the production of cryoglobulins by a clonally expanded B-cell population is ill understood. Since most patients with hepatitis C do not develop vasculitis, but have circulating cryoglobulins, there may be a failure of a separate mechanism responsible for the disease manifestations. There are significantly lower circulating T-regulatory cells in patients who develop vasculitis as compared to those with just cryoglobulinaemia. Typically, a polyvalent IgM rheumatoid factor binds to antigen (although other monovalent immunoglobulins can also be responsible) to produce immune complexes that activate complement resulting in endothelial activation and tissue damage., Epidemiology : nan, Complications : Sjögren syndrome, Diagnostics : Complete Blood Count CBC, Rheumatoid Factor Quantitative, Urine analysis, full thickness skin biopsy, Differential diagnosis : Cryoglobulinaemic vasculitis, disease description : Cryoglobulinaemic vasculitis is a small-vessel vasculitis affecting the skin, joints, peripheral nerves and kidneys. About 80% of cases are secondary to hepatitis C infection. Other causes include B-cell lymphoproliferative disorders, autoimmune diseases like Sjögren syndrome, other viral disorders (hepatitis B, HIV) and essential mixed cryoglobulinaemia

Cryptococcosis

Disease Name : Cryptococcosis, Treatment : medication : Amphotericin B , Fluconazole , Other preparations of amphotericin B include liposomal amphotericin B (AmBisome), amphotericin B lipid complex (Abelcet), amphotericin B cholesteryl complex (Amphotec), and amphotericin B colloidal dispersion (Amphocin)., The drug of choice (DOC) for initial therapy in disseminated or CNS cryptococcosis is amphotericin B. Amphotericin B may be used alone or in combination with flucytosine. Amphotericin B has a rapid onset of action and often leads to clinical improvement more rapidly than either intravenous or oral fluconazole., Pathophysiology : Cryptococcus fungi are commonly found in soil contaminated by bird droppings and in decaying wood and in tree hollows. The capsule of the fungus comprises polysaccharides glucuronoxylomannan and glucuronoxylomannogalactan which are the major factors contributing to the virulence of pathogen. Infection usually occurs through inhalation of spores from the environment. The initial infection is mostly asymptomatic and is contained in healthy individuals. Spread of the disease from initial site of infection occurs through hematogenous dissemination in patients who are immune suppressed. Another mechanism through which the infection can develop is reactivation of the organism at the initial site of infection after several years when the patient becomes immunocompromised, Epidemiology : ~1 million cases, >1000 cases of cryptococcal meningitis each year, good, It can be hard to avoid breathing in Cryptococcus if you’re in an area where it’s common. If you’re at a higher risk for getting sick from Cryptococcus, your provider may recommend : ,,Targeted screening. Before beginning HIV treatment, a provider can test you for Cryptococcus antigens (recognizable parts of the fungus), even if you don’t have symptoms of cryptococcosis. If you test positive, they can treat you for cryptococcosis to prevent you from getting sick from the fungus already in your body.,Prophylaxis. If you’re at high risk for cryptococcosis, your provider can treat you with antifungal medication. This can help prevent you from getting sick if you get exposed to Cryptococcus., Complications : Hearing loss, anaemia, seizures, Loss of vision, brain damage, Lung infection, relapse or disease recurrence, Diagnostics : CSF EXAMINATION, X RAY CHEST, CT HEAD, CSF CULTURE, BLOOD CULTURE, CRAg DETECTION IN CSF, Differential diagnosis : Coccidioidomycosis, community-acquired pneumonia, Histoplasmosis, Toxoplasmosis, TUBERCULOSIS, disease description : Cryptococcus is an invasive fungus that causes cryptococcosis an infection commonly associated with immunosuppressive individuals while being rare in healthy individuals.  The two species of Cryptococcus that are commonly associated with infections in humans are Cryptococcus neoformans and Cryptococcus gatti. The organism is widely prevalent in certain regions of the world. However, the most common forms of exposure include a history of exposure to soil, bird droppings. 

Cryptorchidism

Disease Name : Cryptorchidism, Treatment : The congenital undescended testis should be treated surgically by 9-15 mo of,age. With anesthesia by a pediatric anesthesiologist, surgical correction at 6 mo,is appropriate, because spontaneous descent of the testis will not occur after 4,mo of age. Most testes can be brought down to the scrotum with an orchiopexy, ,which involves an inguinal incision, mobilization of the testis and spermatic,cord, and correction of an indirect inguinal hernia. In males with a nonpalpable testis, diagnostic laparoscopy is performed in,most centers. This procedure allows safe and rapid assessment of whether the,testis is intraabdominal., Pathophysiology : The process of testicular descent is regulated by an interaction among genetic, hormonal, and mechanical factors, including testosterone, dihydrotestosterone, müllerian-inhibiting factor, the gubernaculum, intraabdominal pressure, and the genitofemoral nerve. The testis develops in the abdomen at 7-8 wk of gestation. Insulin-like factor 3 controls the transabdominal phase. At 10-11 wk, the Leydig cells produce testosterone, which stimulates differentiation of the wolffian (mesonephric) duct into the epididymis, vas deferens, seminal vesicle, and ejaculatory duct. At 32-36 wk, the testis, which is anchored at the internal inguinal ring by the gubernaculum, begins its process of descent, and is controlled in part by calcium gene-related peptide produced by the genitofemoral nerve. The gubernaculum distends the inguinal canal and guides the testis into the scrotum. Following testicular descent, the patent processus vaginalis (hernia sac) normally involutes., Epidemiology : prevalence of cryptorchidism is 30% in premature male neonates, incidence is 3.4% at term., GOOD, There is no known way to prevent this condition., Complications : Hernia, SEMINOMA, testicular atrophy, TORSION OF TESTIS, Diagnostics : Luteinising Hormone LH, SERUM TESTOSTERONE LEVEL, CT Abdomen, MRI, usg testis, PHYSICAL EXAMINATION, Laproscopy, Differential diagnosis : Ectopic testis, vaginal agenesis, vanishing testis, disease description : Cryptorchidism is the absence of at least one testicle from the scrotum. It is the most common congenital defect involving male genitalia. About 3% of full-term and 30% of premature male infants are born with one or both testicles undescended. The testes normally descend by month 7 of gestation. Approximately 80% of cryptorchid testes descend by the third month of life after birth. This makes the true incidence around 1%. If the testis has not descended by six months of age, it is unlikely to do so spontaneously, and surgical correction should be considered.

Cryptosporidiosis

Disease Name : Cryptosporidiosis, Treatment : medication : Azithromycin , Nitazoxanide , Paromomycin , Anti-diarrheal medicine may help slow down diarrhea, but a healthcare provider should be consulted before such medicine is taken. Nitazoxanide has been FDA-approved for treatment of diarrhea caused by Cryptosporidium in people with healthy immune systems and is available by prescription., Pathophysiology : Cryptosporidium can persist in the environment as an oocyst that contains four sporozoites, which are the infectious form of the parasite. Following exposure, the incubation period ranges from two to ten days, with an average of seven days. Once ingested, the oocyst travels to the small intestine, and excystation releases the sporozoites. The sporozoites settle within the walls of the small intestine and undergo asexual multiplication within extracytoplasmic parasitophorous vacuoles. Each cell reproduces in massive quantities, producing both thick-walled oocysts that can be shed into the stool and persist in the environment. The cells also produce thin-walled oocysts that can auto-infect the patient. This auto-infection is thought to be responsible for the increase in the severity of disease seen in immunocompromised patients. Symptoms are caused by three proposed mechanisms : 1) infiltration of the lamina propria by inflammatory cells; 2) increased epithelial permeability, villous atrophy, and cell death; and 3) malabsorption due to loss of intestinal architecture. Cryptosporidium can modify the host immune response to avoid apoptosis of the infected cell, allowing for persistence of infection., Epidemiology : 2.6–21.3% in African countries, 3.2–31.5% in central and South American countries, 1.3–13.1% in Asia countries, 0.1–14.1% in Europe, and 0.3–4.3% in North America, estimated 748, 000 cryptosporidiosis cases occur annually, variable, Cryptosporidiosis spreads easily. Alcohol-based hand sanitizers and chlorine in pools don’t kill Cryptosporidium. Being cautious in places where Cryptosporidium is found and practicing good handwashing and food prep habits are the best ways to reduce your risk of cryptosporidiosis. If you have a compromised immune system, it’s best to avoid public swimming areas and recreational water areas.,,Ways to reduce your risk of getting and spreading cryptosporidiosis include : ,,Don’t swim if you have diarrhea. Wait at least two weeks after diarrhea goes away to swim.,Avoid getting water in your mouth if you swim in lakes, rivers or public pools.,Don’t drink untreated water or unpasteurized milk.,Wash, peel or cook fruits and vegetables before eating.,If you’ve been around farm animals or at a petting zoo, wash your hands thoroughly before touching your face or eating.,Teach children good hand washing hygiene at a young age.,Make sure kids wash their hands after touching animals and going to the bathroom.,Use a condom or dental dam every time you have sex. Wait two weeks after symptoms go away before having sex again., Complications : appendicitis, cholangitis, Severe dehydration, HYPOVOLEMIA, Diagnostics : Serum Alkaline Phosphatase ALP, Small Bowel Biopsy, X RAY CHEST, stool microscopy, DUODENAL ASPIRATION, PCR, CT SCAN, Differential diagnosis : Campylobacter Enteritis, cyclosporiasis, E COLI, giardiasis, Salmonella Infection (Salmonellosis), Shigellosis, disease description : Cryptosporidiosis is an illness you get from the parasite Cryptosporidium. It causes watery diarrhea and other gastrointestinal (gut) symptoms. Cryptosporidiosis, sometimes informally called crypto  is a parasitic disease caused by Cryptosporidium. It affects the distal small intestine and can affect the respiratory tract in both immunocompetent (i.e., individuals with a normal functioning immune system) and immunocompromised (e.g., persons with HIV/AIDS or autoimmune disorders) individuals, resulting in watery diarrhea with or without an unexplained cough.2 In immunosuppressed individuals, the symptoms are particularly severe and can be fatal. It is primarily spread through the fecal-oral route, often through contaminated water;23 recent evidence suggests that it can also be transmitted via fomites contaminated with respiratory secretions.2

Csf Rhinorrhoea

Disease Name : Csf Rhinorrhoea, Treatment : medication : Acetazolamide, Neurosurgical intracranial approach.,2. Extradural approaches such as external ethmoidectomy,for cribriform plate and ethmoid area, trans-septal,sphenoidal approach for sphenoid and osteoplastic,flap approach for frontal sinus leak.,3. Transnasal endoscopic approach, Pathophysiology : CSF forms a jacket of fluid round the brain and spinal cord acting as a buffer against sudden jerks. It is secreted by choroid plexuses in the lateral, third and fourth ventricles and is absorbed into the dural venous sinuses by arachnoid villi. Villi have one-way valve mechanism allowing CSF of the subarachnoid space to be absorbed into the blood but not vice versa. Total volume of CSF varies from 90 to 150 mL. It is secreted at the rate of about 20 mL/h (350-500 mL/day). Thus total CSF is replaced three to five times every day. Normal CSF pressure at lumbar puncture is 50-150 mm H2O. CSF pressure rises on coughing, sneezing, nose blowing, straining on stools or lifting heavy weight–activities which should be avoided in cases of CSF leak or after its repair..CSF from anterior cranial fossa reaches the nose via (i) cribriform plate, (ii) roof of ethmoid air cells or (iii) frontal sinus. CSF from middle cranial fossa follows injuries to sphenoid sinus. In fractures of temporal bone, CSF reaches the middle ear and then escapes through the eustachian tube into the nose (CSF otorhinorrhoea). There is history of clear watery discharge from the nose on bending the head or straining. It may be seen on rising in the morning when patient bends his head (reservoir sign—fluid which had collected in the sinuses, particularly sphenoid, empties into the nose). CSF rhinorrhoea should be differentiated from nasal discharge of allergic or vasomotor rhinitis as the former is sudden, gushes in drops when bending and cannot be sniffed back. Nasal discharge, because of its mucus content, also stiffens the handkerchief. CSF rhinorrhoea after head trauma is mixed with blood and shows double target sign when collected on a piece of filter paper. It shows central red spot (blood) and peripheral lighter halo., Epidemiology : 40% to 50% in NOE fracture series, GOOD, To Do : bed rest, elevating,the head of the bed, stool softeners, and avoidance,of nose blowing, sneezing and straining, Complications : Meningitis, headache, seizures, Diagnostics : Otoscopy, MRI, CT SCAN, NASAL EXAMINATION, Beta-2 transferrin, Differential diagnosis : allergic rhinitis, headache, nasal discharge, Subarachnoid Hemorrhage, disease description : Leakage of CSF into the nose is called CSF rhinorrhoea. It may be clear fluid or mixed with blood as in acute head injuries.Spontaneous CSF leaks occur without an obvious inciting event. Increasingly,  spontaneous leaks are attributed to underlying conditions that result in increased intracranial pressure (ICP) such as idiopathic intracranial hypertension (idiopathic intracerebral hypertension - pseudotumor cerebrii). This condition is frequently associated with obesity and female sex.

Cushings Syndrome

Disease Name : Cushings Syndrome, Treatment : medication : Metyrapone , Cyproheptadine , Ketoconazole , Cyproheptadine, a centrally acting serotonin antagonist that blocks ACTH,release, has been used to treat Cushing disease in adults. Inhibitors of adrenal steroidogenesis (metyrapone, ketoconazole, ,aminoglutethimide, etomidate) have been used preoperatively to normalize,circulating cortisol levels and reduce perioperative morbidity and mortality. Pasireotide, a somatostatin analog, can inhibit ACTH secretion, and is,approved for use in adults with persistent disease after surgery or in whom,surgery is contraindicated., Transsphenoidal pituitary microsurgery is the treatment of choice in pituitary,Cushing disease in children. Management of patients undergoing adrenalectomy requires adequate,preoperative and postoperative replacement therapy with a corticosteroid. Postoperative complications may,include sepsis, pancreatitis, thrombosis, poor wound healing, and sudden,collapse, particularly in infants with Cushing syndrome., Pathophysiology : Cortisol is a steroid hormone produced by the zona fasciculata of the adrenal cortex. After production the cortisol is carried to different parts of the body by cortisol binding protein, almost 90% of cortisol binds to this (CBG) protein and has a bioavailability of 60% to 100%. Synthetic corticosteroids have varying bioavailability and potency, but all affect similar pathways. It is a catabolic hormone that is released under stressful conditions. The excess of cortisol results in an increased rate of gluconeogenesis, glycogenolysis and increases insulin resistance. Cortisol is a steroid hormone, and it directly affects the transcription and translation of enzyme proteins involved in the metabolism of fats, glycogen, proteins synthesis, and Krebs cycle. It promotes the production of free glucose in the body, elevating glucose levels, while simultaneously increasing insulin resistance. The destruction of protein yields amino acids which are used in gluconeogenesis. The prolonged catabolism of proteins causes purplish striae of the torso, osteoporosis, and poor wound healing. All these processes involve collagen which is a three amino-based protein. High cortisol levels also cause immune disruptions; this hormone leads to a decrease in lymphocyte levels and increases the neutrophils. It causes detachment of marginating pool of neutrophils in the bloodstream and increases the circulating neutrophil levels although there is no increased production of the neutrophils. This mechanism explains the typical picture of raised TLC where there is decreased lymphocyte number and increased neutrophils. The corticosteroids mediate the downregulation of NF-kappaB, regulation of AMP kinase, glycogen phosphorylase, superoxide dismutase, and many other enzymes. Cortisol inhibits the production of IL-2, TNF alpha, IFN alpha, and gamma. Decreased IL-2 levels prevent the proliferation of T-lymphocytes., Epidemiology : prevalence of the disease is highly variable across different ethnic and cultural groups, approximately 13 per million people annually, GOOD, You always need cortisol in your body. You need it to function. It manages your respiration, turns your food into energy, regulates your blood sugar, helps you cope with stress and more. Cortisol isn’t your body’s enemy, but too much of it can be. However, you can’t live without cortisol.,,Have your healthcare provider monitor your cortisol levels closely if you’re on glucocorticoids or steroids. Unfortunately, there’s no way to prevent a tumor that causes Cushing syndrome (hypercortisolism)., Complications : hyperglycemia, hypertension, hypokalemia, Osteoporosis, precocious puberty, Type 2 Diabetes Mellitus, Diagnostics : 24 hour urinary free cortisol, Dexamethasone suppression test, CT HEAD, plasma DHEA SULFATE LEVEL, SERUM CORTISOL LEVEL, PLASMA ACTH LEVEL, METYRAPONE INFUSION TEST, CRH NFUSION TEST, X RAY ABDOMEN, Differential diagnosis : DEPRESSION, hypertension, obesity, disease description : Cushing syndrome is caused by prolonged exposure to high circulating levels of cortisol. The most common cause of cushingoid features is iatrogenic corticosteroid use, while some herbal preparations can also increase circulating corticosteroid levels leading to Cushing syndrome. Cushing syndrome can be interchangeably called hypercortisolism. ACTH-dependent cortisol excess due to a pituitary adenoma is called Cushing disease, and it is responsible for 80% of endogenous Cushing syndrome .

Cutaneous Endometriosis

Disease Name : Cutaneous Endometriosis, Treatment : Hormonal treatment includes the use of gonadotropin-releasing hormonal agonists, danazol, and oral contraceptives. The main mechanism of the hormonal agent is to decrease the cyclical proliferation of the endometrial tissue.,,Hormonal treatment is usually meant for reducing the size of the lesions and also provides symptomatic relief for patients before undergoing surgery. Before starting hormonal treatment, patients have to be counseled regarding the side effects such as amenorrhea with the use of danazol and leuprolide. In addition, the symptoms of the disease may return once the hormonal treatment is stopped. Hormonal treatment serves as an alternative treatment for those who do not opt for surgical treatment and also for those with coexistent pelvic endometriosis., Pain management is another aspect, and nonsteroidal anti-inflammatory drugs (NSAIDs) can be used., surgical excision of the lesion with a wide margin is the treatment of the choice., Pathophysiology : The theories that provide a basis on the pathophysiology of primary cutaneous endometriosis may be explained by the theory of cellular metaplasia, vascular, and lymphatic migration. Meyer, in 1903, proposed the theory of tissue differentiation of the mesothelial cells of the peritoneum into endometrial glands and stroma as a cause of endometriosis. Halban in 1924 proposed the theory of dispersion of cells of the endometrium from the lymphatic vessels, and similarly, Sampson in 1925 supported this theory of dispersion of cells through the hematogenous route.The pathophysiology of secondary cutaneous endometriosis is described on the basis of implantation of the endometrial cells on the cutaneous sites during surgical procedures and those cells behaving as being similar to uterine endometrial cells that undergo proliferation and shedding during the menstrual cycle, Epidemiology : 0.5% to 1%, in women of childbearing age is around 5% to 15%, The prognosis of cutaneous endometriosis is consid, Complications : nan, Diagnostics : HISTOPATHLOGY, MRI, CT SCAN, Differential diagnosis : nan, disease description : Cutaneous endometriosis can be placed into the subtype of extrapelvic endometriosis.Cutaneous endometriosis is uncommon and occurs when nonneoplastic endometrial tissue is found on the skin. Patients usually complain of cyclic pain during menstruation, a palpable mass, swelling, or even bleeding over the affected sites on the skin. Scar endometriosis is the term used for endometriosis that occurs in the surgical scars, and this can be cutaneous or subcutaneous depending on the location of the lesions.

Cutaneous Focal Mucinosis

Disease Name : Cutaneous Focal Mucinosis, Treatment : Surgical excision is the treatment of choice, Pathophysiology : Cutaneous focal mucinosis is a reactive lesion in which trauma may act as a trigger. Pathology : The histology is essential for diagnosis and shows a diffuse ill-defined dermal accumulation of mucin, sparing subcutaneous tissue, with normal or slight increase of fibroblasts and absence of inflammation. Spindle-shaped fibroblasts are the predominant cell type, with occasional admixed factor XIIIa-positive dendritic cells. The epidermis may be normal or hyperplastic, sometimes forming a collarette. Additionally, absence of elastic fibres without increased vascularity is seen., Epidemiology : nan, Complications : nan, Diagnostics : Complete Blood Count CBC, HbA1c, HISTOPATHLOGY, ANTI dsDNA ANTIBODY, THYROID PROFILE, Differential diagnosis : Deep (‘aggressive’) angiomyxoma, disease description : Cutaneous focal mucinosis is a benign localized form of cutaneous dermal mucinosis. Cutaneous focal mucinosis is a benign localized form of cutaneous dermal mucinosis.Multiple cutaneous focal mucinosis can occur as an idiopathic condition; however, several of these individuals have a mucin-associated systemic disease. The associated systemic diseases include Birt-Hogg-Dube syndrome, scleroderma, scleromyxedema, systemic lupus erythematous, and thyroid disease.

Cutaneous Larva Migrans

Disease Name : Cutaneous Larva Migrans, Treatment : medication : Albendazole , Ivermectin , Thiabendazole/Tiabendazole, The disease is self-limited; however, if the infection is local, topical thiabendazole 10% solution or 15% ointment may be tried first. The cream is applied 2 to 3 times daily for 5 to 10 days.For multiple lesions or severe infestation, albendazole and ivermectin are first-line systemic therapies., Pathophysiology : Cutaneous larva migrans (“creeping eruption”) is a serpiginous skin eruption caused by burrowing larvae of animal hookworms, usually the dog and cat hookworm Ancylostoma braziliense. The larvae hatch from eggs passed in dog and cat feces and mature in the soil. Humans become infected after skin contact with soil in areas frequented by dogs and cats, such as areas underneath house porches. After larvae penetrate the skin, erythematous lesions form along the tortuous tracks of their migration through the dermal-epidermal junction; the larvae advance several centimeters in a day. The intensely pruritic lesions may occur anywhere on the body and can be numerous if the patient has lain on the ground, Epidemiology : overall prevalence of 8.2%, he overall incidence rate was 0.52 cases per person, GOOD, Complications : nan, Diagnostics : HISTOPATHLOGY, SERUM IMMUNOGLOBULINS, HISTORY TAKING, Differential diagnosis : nan, disease description : Cutaneous larva migrans (CLM), also having been termed for the clinical sign of creeping eruption, is an infectious syndrome caused by multiple types of hookworms. This is most commonly transmitted by animal feces depositing eggs in the soil, with larvae entering humans through direct contact with skin. Cutaneous larva migrans is distinguished from the cutaneous manifestation of Strongyloides stercoralis infection termed larva currens. The latter demonstrating fast movement through the skin. Other non-larval cutaneous migrations, including loiasis, scabies, or larva with dermal penetration, are also excluded from CLM. This activity describes the clinical evaluation of cutaneous larva migrans and explains the role of the health professional team in coordinating the care of this condition.

Cutaneous Leishmaniasis

Disease Name : Cutaneous Leishmaniasis, Treatment : medication : Amphotericin B , Miltefosine , Previously untreated patients with mucocutaneous leishmaniasis respond to pentavalent antimonials in a dose ,of 20 mg/kg/day, if given daily for 3–4 weeks. Only 20% of ,relapsed patients will respond to the drug. Amphotericin is the ,drug of second choice, given in a dose of 1 mg/kg on alternate ,days for 2 months. Miltefosine is an oral alkylphosphocholine drug that has activity against cutaneous, mucocutaneous and visceral leishmaniasis. The drug is given ,at 2.5 mg/kg (maximum 150 mg) orally once daily for 28 days., Pathophysiology : Sandflies inoculate the infective metacyclic promastigotes when taking a blood meal from the superficial vascular network in the human dermis. Inoculated promastigotes are taken up by histiocytes and newly immigrated monocytes, in which they multiply. A minority of successful parasite inoculations result in localized or disseminated clinical cutaneous leishmaniasis. After a period of time, which depends on parasite species, size of inoculum and the host’s cellular immune response, a clinical lesion appears. The overlying epidermis becomes hyperkeratotic and breaks down, causing an ulcer whose surface is covered in a crust composed of hyperkeratotic debris, dried exudate, dead cells, and live and dead parasites. This activity continues for several months, while the lesion appears clinically static. In other, especially chronic, cases the more classical epithelioid cell, and sometimes giant cell granuloma, develops with relatively little necrosis, but with similar epidermal changes. In these cases, parasites are difficult to find. Rarely, when cell-mediated immunity fails to develop, as in diffuse cutaneous leishmaniasis, histology shows masses of parasitized, often vacuolated, macrophages, with little or no lymphocytic infiltrate, and a normal or attenuated epidermis. The pathology of the skin lesions does not differ significantly from that of Old World disease. The necrotic pattern, with ulceration of the overlying epidermis, is common. Although recovery from an infection confers lifelong immunity against reinfection with the same species of parasite, that immunity does not develop early enough or adequately to prevent the blood-borne metastatic spread of parasites of the L. brasiliensis complex, especially L. b. brasiliensis itself, to the mucosa of the nose, mouth, palate or larynx. Here they may later start to multiply and cause severe destructive lesions, known as espundia (Portuguese : a sponge). Histology of the mucosal lesion shows a collection of lymphocytes and plasma cells around small arterioles in the nasal submucosa. Occasional Leishmania are present in the vascular endothelial cells. Oedema, congestion and proliferation of vascular endothelium progress, leading to desquamation and necrosis of the overlying mucosa and underlying cartilage. Endarteritis and thrombosis add to the tissue destruction. Vascular supply is so reduced that only fibrous tissue remains., Epidemiology : The disease is endemic in 88 countries., 300, 000 of 500, 000 cases of visceral leishmaniasis (VL) occurring annually. in INDIA, GOOD, Prevention and control-,Prevention and control of leishmaniasis requires a combination of intervention strategies because transmission occurs in a complex biological system involving the human or animal reservoir host, parasite and sandfly vector. Key strategies for prevention are listed below : ,,Early diagnosis and effective prompt treatment reduces the prevalence of the disease and prevents disabilities and death. It helps to reduce transmission and to monitor the spread and burden of disease. Currently there are highly effective and safe anti-leishmanial medicines particularly for visceral leishmaniasis, although they can be difficult to use. Access to medicines has significantly improved thanks to a WHO-negotiated price scheme and a medicine donation programme through WHO.,Vector control helps to reduce or interrupt transmission of disease by decreasing the number of sandflies. Control methods include insecticide spray, use of insecticide–treated nets, environmental management and personal protection.,Effective disease surveillance is important to promptly monitor and act during epidemics and situations with high case fatality rates under treatment.,Control of animal reservoir hosts is complex and should be tailored to the local situation.,Social mobilization and strengthening partnerships – mobilization and education of the community with effective behavioural change interventions must always be locally adapted. Partnership and collaboration with various stakeholders and other vector-borne disease control programmes is critical., Complications : arthralgia, myalgia, Diagnostics : PCR, Histopathological examination, direct microscopy, Nicolle–Novy–MacNeal (NNN) culture medium, Differential diagnosis : LUPUS VULGARIS, disease description : Cutaneous leishmaniasis (CL) is the most common form of leishmaniasis and causes skin lesions, mainly ulcers, on exposed parts of the body, leaving life-long scars and serious disability or stigma. About 95% of CL cases occur in the Americas, the Mediterranean basin, the Middle East and Central Asia.