Persius/hicric huggingface dataset:
Danon disease

# Overview
Danon disease (or glycogen storage disease Type IIb) is a lysosomal storage disease that was first characterized in 1981 by Dr. M.J. Danon. Danon Disease is an X-linked dominant disorder that predominantly affects cardiac muscle.  It affects both males and females, although males tend to see the majority of mental retardation and muscle weakness.
A mutated gene that codes a protein called LAMP2 causes Danon Disease. LAMP2 protein is a glycoprotein molecule comprised of a carbohydrate and a protein. It is typically found on the membrane of the lysosome.  LAMP2 is deficient in individuals affected by Danon Disease but it is unknown how this deficiency disrupts the function of the lysosome.

# Symptoms
Muscle weakness, heart disease, and mental retardation are three main symptoms associated with this disorder.  Signs of muscle weakness and heart disease begin to manifest in early childhood or adolescence.  Some affected individuals are unable to walk as muscular complications progress.  Heart disease associated with Danon Disease involves heart arrhythmias and cardiomyopathy, or severe heart muscle disease.  Visual problems may also occur.
In females, the symptoms of Danon Disease are less severe and manifest later than they do in affected males.  Muscle weakness is present, but commonly less debilitating than it is in males.  Heart disease, which may occur, will manifest in adulthood.  Symptoms may include visual problems.

# Inheritance Pattern
Danon Disease is an X-linked dominant disorder.  It selectively and more often affects boys, since males have only one X chromosome.  Females have two X chromosomes and therefore have an extra X to protect them from disorders of this inheritance nature, but cases of Danon Disease afflicting females have been reported.  Danon Disease also commonly affects males more severely than it does females.  Boys often develop symptoms in childhood or in adolescence.  Symptoms may not appear in females until adolescence or adulthood.

# Life Expectancy
Life expectancy for Danon Disease is 30 years of age or younger and result from cardiac failure.

# Diagnosis and Testing
Several mutations have been found on the LAMP2 gene, and genetic analysis is a necessary diagnostic tool for confirming or disconfirming a diagnosis of Danon Disease. Prenatal genetic screening is available.  A muscle tissue biopsy, which reveals large vacuoles containing elevated levels of glycogen, a kind of a sugar, used in conjunction with genetic screening may confirm a diagnosis. Cardiac MRI is also used to diagnose heart disease.

## ACC/AHA Guidelines- ACCF/ACR/AHA/NASCI/SCMR 2010 Expert Consensus Document on Cardiovascular Magnetic Resonance (DO NOT EDIT)

# Treatment
Medications to treat the heart disease are often prescribed and in severe cases, a heart transplant is often needed. Supportive treatment, such as physical therapy, may improve muscle strength and balance.
Decay product
In nuclear physics, a decay product, also known as a daughter product, daughter isotope or daughter nuclide, is a nuclide resulting from the radioactive decay of a parent isotope or precursor nuclide. The daughter product may be stable or it may decay to form a daughter product of its own. The daughter of a daughter product is sometimes called a granddaughter product.
Decay products are extremely important in understanding radioactive decay and the management of radioactive waste.
In practice nearly all decay products are themselves radioactive. The result of this is that most radionuclides do not have simply a decay product, but rather a decay chain, leading eventually to a stable nuclide. For elements above lead in atomic number, this is nearly always an isotope of lead. Lead is generally the stable point at which decay chains stop.
In many cases members of the decay chain are far more radioactive than the original nuclide. Thus, although uranium is not dangerously radioactive when pure, some pieces of naturally-occurring pitchblende are quite dangerous owing to their radium content. Similarly, thorium gas mantles are very slightly radioactive when new, but become far more radioactive after only a few months of storage.
Although it cannot be predicted whether any given atom of a radioactive substance will decay at any given time, the decay products of a radioactive substance are extremely predictable. Because of this, decay products are important to scientists in many fields who need to know the quantity or type of the parent product. Such studies are done to measure pollution levels (in and around nuclear facilities) and for other matters.
af:Vervalproduk
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ast:Productu de desintegracion
ca:Producte de desintegracio
de:Zerfallsprodukt
nl:Vervalproduct
nds:Verfallsprodukt
sv:Sonderfallsprodukt
David P. Lane

# Overview
Sir David Philip Lane FRS, FRSE FRCPath (born 1952) is a British oncologist.  He is best known for his work on the p53 tumour suppressing-protein. Besides his position at the University of Dundee, he also founded the Cyclacel biotechnology company.
He was made a Knight Bachelor in 1999. In 2004, he was awarded the Buchanan Medal.
He is currently serving his 2 year sabbatical from the University of Dundee as the Executive Director of Singapore's A*STAR Institute of Molecular and Cell Biology (IMCB) where he was appointed from 1 August 2004 . His wife, Professor Birgette Lane also has an appointment as Principal Investigator at IMCB and she is prominent for her work in Keratins and its mutations that could be the basis for genetic skin disorders. She was later appointed as the Executive Director of The Centre for Molecular Medicine (CMM) on 1st of April 2006 .
In April 2007, Cancer Research UK has appointed Professor Sir David Lane as its first Chief Scientist. This appointment will be conducted on a part time basis for him to focus on his other responsibilities both in Singapore and in the UK. Professor Lane will formally take up the new post of Chief Scientist at Cancer Research UK in January 2008 but will be spending time with the charity throughout 2007 .
In January 2008, they will be also be returning from their extended sabbatical in Singapore to lead the new Division of Molecular Medicine, which is part of a 6 million investment in the College of Life Sciences at the University of Dundee
David Sackett
David Sackett (born November 17, 1934) is a Canadian medical doctor and a pioneer in evidence-based medicine.  He founded the first department of clinical epidemiology in Canada at McMaster University, and the Oxford Centre for Evidence-Based Medicine .  He well known for his textbook Clinical Epidemiology: A Basic Science for Clinical Medicine.

# Education
Sackett obtained his medical degree at the University of Illinois, has a Doctor of Science from the University of Bern and a Master of Science in Epidemiology from Harvard University.

# Books
- Haynes RB, Sackett DL, Guyatt GH, Tugwell P. Clinical Epidemiology: How to Do Clinical Practice Research, 3rd edition. Philadelphia: Lippincott, Williams and Wilkins, 2005.
Genital ulcer

# Overview
A Genital ulcer is an ulcer located on the genital area, caused by a sexually transmitted disease such as genital herpes, syphilis, chancroid, or thrush. Some other signs of having genital ulcers include enlarged lymph nodes in the groin area, or vesicular lesions, which are small, elevated sores or blisters. The syndrome may be further classified into penile ulceration and vulval ulceration for males and females respectively.

# Causes

## Common Causes
- Balanitis
- Behcet's disease
- Cancer
Basal cell carcinoma
Squamous cell carcinoma
- Basal cell carcinoma
- Squamous cell carcinoma
- Chancroid (Haemophilus ducreyi) (the third most common cause in the USA)
- Excoriations
- Herpes Genitalis HSV-2 and less common HSV-1 (the most common cause in USA)
- HIV-specific ulcers (acute HIV infection or late HIV)
- Human papilloma virus
- Lichen planus
- Neisseria gonorrhoeae
- Pyoderma
- Syphilis (primary syphilis) (the second most common cause in USA)
- Vulvovaginitis

## Other Causes (rare)
- Athabaskan severe combined immunodeficiency
- Cicatricial pemphigoid
- Cytomegalovirus infection
- EBV infection
- Erythema multiforme
- Fixed drug eruption
- Foscarnet
- Genital trauma
- Granuloma inguinale (Klebsiella granulomatis)
- Langerhans cell histiocytosis
- Lymphogranuloma venereum (LGV, Chlamydia trachomatis serovars L1-3)
- Pemphigus vulgaris
- Reiter's syndrome
- Scabies
- Stevens-Johnson syndrome
- Strachan's syndrome: orogenital ulceration, sensory neuropathy, amblyopia
- Yeast infection

## Complete Differential Diagnosis of the Causes of Genital Ulcers:
(By organ system)

# Medical Therapy

## Pathogen-Based Therapy
Gonadotropins

# Overview
- Gonadotropins are the hormones capable of promoting gonadal growth and function
- Follicle Stimulating Hormone (FSH) and Luteinizing Hormone (LH) are examples of gonadotropins

# Differential Diagnosis

## Increased FSH and LH
- After radiation therapy
- Chemotherapeutic therapy
- Climacterium praecox
- During menopause or postmenopausal
- Gonadal dysgenesis
- Primely hypogonadism
- Swyer-James Syndrome
- Turner's Syndrome

## Reduced FSH and LH
- Anorexia Nervosa
- Hyperprolactinemia
- Progestogen negative amenorrhea
- Traumatic or tumorous damage of the pituitary or the hypothalamus

## Reduced FSH/LH Quotient
- Hyperandrogenic ovarial insufficiency
- Polycystic ovary syndrome
Pelvic masses

# Epidemiology and demographics
Pelvic masses are most commonly found in women, pelvic masses can also occur in men. Cases besides bladder distension and pregnancy need to be ruled out before workup. Consider every case as a malignancy. As age increases, so does the liklihood that malignancy could be a cause.

# Differential Diagnosis
In alphabetical order:  
- Colorectal Cancer
- Constipation
- Corpus luteum cysts
- Diverticular abscess
- Endometrioma
- Enlarged bladder
- Functional ovarian cysts
- Germ cell tumor
- Hernia
- Hydrosalpinx
- Leiomyoma
- Lymphoma
- Metastatic disease of the uterus, breast or GI tract
- Neoplasms
- Ovarian fibromas
- Ovarian cysts
- Polycystic Ovarian Syndrome
- Pregnancy (uterine, ectopic, molar)
- Primary ovarian carcinoma
- Retroperitoneal tumors
- Tubo-ovarian abscess
- Wilms' Tumor

# Diagnosis

## History and Symptoms
- Determine whether the mass is painful

## Physical examination

### Abdomen
- Full abdominal exam
- Full pelvic/genital exams (bimanual & rectal)

### Other
- Full breast exam
- Full lymph node exam

## Laboratory Findings
- Labs include:
- BUN/creatinine
- CBC w/ differential
- Culture for gonorrhea and chlamydia
- Hemoccult testing
- Liver function tests
- Pap smear
- Urinalysis

### Electrolyte and Biomarker Studies
- Tumor markers if ultrasound is abnormal
- Beta-hCG
- Serum CA-125
- LDH

## MRI and CT
- Pelvic CT
- Abdominal CT

## Echocardiography or Ultrasound
- Pelvic ultrasound for masses in the uterus to determine existence, size & composition.

## Other Diagnostic Studies
- Colonoscopy to exclude colon cancer
- Bladder catheterization if culprit may be bladder distension

# Treatment

## Acute Pharmacotherapies
- Leiomyoma
- Hypoestrogenic medications

## Indications for Surgery
- Premenopausal ovarian mass
- Ovarian cyst
- observe 4-6 weeks
- suppress with OCP
- Consider laparoscopic procedure
- If ovarian solid mass, complex cyst, ascites are indicated, surgical evaluation is necessary
- Postmenopausal ovarian mass
- <3 and asymptomatic and a normal exam indicates serial ultrasounds
- if persistent, evaluate for surgery
- In the event that the cyst is >3 and is symptomatic, perform laparoscopy
- Leiomyoma
- Consider myomectomy instead of hysterectomy

## Referrals
- Premenarchal ovarian masses - high malignancy potential; immediate gynecologic referral
Rectal masses
Masses in the rectum or anal canal should be considered cancer unless proven otherwise.

# Epidemiology and Demographics
Colorectal cancer
- Second leading cause of mortality from cancer in the United States
- 40,000 death's/year

# Differential Diagnosis
In alphabetical order.  
- Anal cancer
- Endometriosis
- Foreign body
- Hemorrhoids
- Presacral neurogenic tumor
- Prostatitis
- Rectal Cancer
- Rectal polyp
- Rectal intussusception

# Diagnosis

## History and Symptoms
- History should include bowel changes and complete family history (focus on colorectal cancer)
- Bleeding is the most common symptom
- Stool or vomit black in color implies GI tract bleeding
- Blood on the toilet paper may indicate anal fissure or hemorrhoids
- Blood clots indicate bleeding in the colon

## Laboratory Findings
- Labs include
- Fecal occult blood testing

## Echocardiography or Ultrasound
- Endorectal ultrasound is essential to detecting potential rectal cancer
- Ultrasound is used to evaluate stage tumor invasion and lymph node status

## Other Diagnostic Studies
- Endoscopy and/or colonoscopy
- Measuring the amount of pressure exerted by the anal sphincter via manometry may be necessary in patients suffering from incontinence

# Treatment
- Rectal masses can be treated by radiation and/or chemotherapy

## Indications for Surgery
- Rectal and anal cancers are treated by surgery
- Hemmorhoids - rubber band ligation for internal hemorrhoids
- Large refractroy hemmorrhoids - surgery is indicated
- Acute thrombosis of hemmorrhoid - incision and drainage
Tendon reflex
Tendon reflex (or T-reflex) is a feedback mechanism that controls increasing muscle tension by causing muscle relaxation before tension force becomes so great it may damage the muscle.

# Function
The sensory receptor that detects change in tension is the golgi tendon which lie within tendon. It causes the muscle to relax via a polysynaptic reflex in order to decrease tension in the tendons. Another motor neuron sends efferent impulse to its antagonistic muscle, causing it to contract.

# Contrast to stretch reflex
The stretch reflex operates as a feedback mechanism to control muscle length by causing muscle contraction. In contrast, the tendon reflex operates as a feedback mechanism to control muscle tension by causing muscle relaxation before muscle force becomes so great that tendons might be torn. Although the tendon reflex is less sensitive than the stretch reflex, it can override the stretch reflex when tension is great, making you drop a very heavy weight, for example. Like the stretch reflex, the tendon reflex is ipsilateral. The sensory receptors for this reflex are called tendon Golgi receptors, which lie within a tendon near its junction with a muscle. In contrast to muscle spindles, which are sensitive to changes in muscle length, tendon organs detect and respond to changes in muscle tension that are caused be passive stretch or muscular contraction.

# Steps
A tendon reflex operates as follows:
- As the tension applied to a tendon increases, the Golgi tendon organ (sensory receptor) is stimulated (depolarized to threshold).
- Nerve impulses (action potentials) arise and propagate into the spinal cord along a sensory neuron.
- Within the spinal cord (integrating center), the sensory neuron activates an inhibitory interneuron that makes a synapse with a motor neuron.
- The inhibitory neurotransmitter inhibits (hyperpolarizes) the motor neuron, which then generates fewer nerve impulses.
- The muscle relaxes and relieves excess tension.
Degos disease
Degos disease (also called malignant atrophic papulosis) is an extremely rare vasculopathy that affects the lining of the medium and small veins and arteries, resulting in occlusion (blockage of the vessel). The blood vessels affected include those supplying the skin, gastrointestinal tract and central nervous system. The outcome of this disease can be fatal although some appear to have a benign form which affects only the skin. There are less than fifty living patients at present known world wide.
See  for synonyms, links to papers and articles, message board for patients, contact details for support and for a secure section for medical professionals.
A good summary of this disease is contained in
Malignant Atrophic Papulosis 
Author: Scheinfeld, N.
Source: Clinical & Experimental Dermatology, Volume 32, Number 5, September 2007 , pp. 483-487(5)
Publisher: Blackwell Publishing
Degranulation

# Overview
Degranulation is a cellular process that releases antimicrobial cytotoxic molecules from secretory vesicles called granules found inside some cells.   It is used by several different cells involved in the immune system, including granulocytes (neutrophils, basophils and eosinophils) and Mast cells, and certain lymphocytes such as natural killer (NK) cells and cytotoxic T cells, whose main purpose is to destroy invading microorganisms.
Cytotoxic T cells and NK cells release  molecules like perforin and granzymes by
a process of directed exocytosis to kill infected target cells.
Four kinds of granules exist in neutrophils that display differences in content and regulation. Secretory vesicles are the most likely to release their contents by degranulation, followed by gelatinase granules, specific granules, and azurophil granules.
Antigens interact with IgE molecules already bound to high affinity Fc receptors on the surface of mast cells to induce degranulation. The mast cell releases a mixture of compounds, including histamine, proteoglycans and serine proteases, from its cytoplasmic granules.
In a similar mechanism, activated eosinophils release preformed mediators such as major basic protein, and enzymes such as peroxidase, following interaction between their Fc receptors and IgE molecules that are bound to large parasites like helminths.
Hydroxylation

# Overview
Hydroxylation is any chemical process that introduces one or more hydroxyl groups (-OH) into a compound (or radical) thereby oxidizing it. In biochemistry, hydroxylation reactions are often facilitated by enzymes called hydroxylases.

# Hydroxylation in proteins
Proline is the principal residue to be hydroxylated in proteins, which occurs at the \mathrm{C^{\gamma}} atom, forming hydroxyproline (Hyp), an essential element of collagen, in turn a necessary element of connective tissue. Proline hydroxylation is also a vital component of hypoxia response via hypoxia inducible factors. In some cases, proline may be hydroxylated instead on its \mathrm{C^{\beta}} atom. Lysine may also be hydroxylated on its \mathrm{C^{\delta}} atom, forming hydroxylysine (Hyl).
These three reactions are catalyzed by very large, multi-subunit enzymes prolyl 4-hydroxylase, prolyl 3-hydroxylase and lysyl 5-hydroxylase, respectively.  These reactions require iron (as well as molecular oxygen and -ketoglutarate) to carry out the oxidation, and use ascorbic acid (vitamin C) to return the iron to its reduced state.  Deprivation of ascorbate leads to deficiencies in proline hydroxylation, which leads to less stable collagen, which can manifest itself as the disease scurvy. Since vitamin C is rich in citrus fruits, British sailors were given limes to combat scurvy on long ocean voyages; hence, they were called "lymies".
Delta catenin
Delta-1-catenin and Delta-2-catenin are members of a subfamily of proteins with ten Armadillo-repeats. Delta-2-catenin is expressed in the brain where it is important for normal cognitive development. Like beta-catenin and gamma-catenin, delta-catenins seem to interact with presenilins. These catenin-presenilin interaction have implications for cadherin function and regulation of cell-to-cell adhesion.
While beta-catenin acts as a transcription regulatory protein in the Wnt/TCF pathway, delta-catenin 1 has been implicated as a regulator of the NF-B transcription factor.
Palmitoylation of delta-catenin seems to coordinate activity-dependent changes in synaptic adhesion molecules, synapse structure, and receptor localizations that are involved in memory formation.
Dennis Kuchar
Dennis Lawrence Kuchar (b. June 7, 1956) is a cardiologist based in Sydney, Australia.  He is one of the first cardiologists to have performed research on the signal averaged ECG. This groundbreaking research laid the groundwork for the current paradigm of ECG use for prediction of sudden death.

# History
Kuchar grew up in Coogee, where he was the School Captain at Coogee Public School. He graduated with an MB BS (Honors) from Sydney University in 1978. In 1987, at the age of 29, he received his MD from Sydney University and FRACP from the Royal Australasian College of Physicians.
Kuchar is associated with St Vincent's Hospital, Victor Chang Cardiac Resarch Institute and St Vincent's Heart, specializing in cardiac arrhythmias, catheter ablation, pacemakers and implantable cardioverter-defibrillators.
Mentored by his close friend and colleague Victor Chang, Kuchar was involved in Australia's most famous heart transplant, that of Fiona Coote.
Kuchar made news in April 2007 when he noted that the new Lexus autolocking technology system could interfere with the settings of implantable defibrillators, with potentially fatal consequences.

# Professional appointments
Dr. Kuchar's appointments include:
- 1979 Professorial Intern, Sydney Hospital
- 1980-1 Resident Medical Officer, Sydney Hospital
- 1982-3 Cardiology Registrar, St Vincents Hospital, Sydney
- 1984-6 Cardiology Fellow, St Vincents Hospital, Sydney
- 1986-8 Cardiology Fellow, Massachusetts General Hospital, Boston
- 1988 Cardiology Fellow, St Vincents Hospital, Sydney
- 1989-93 Clinical Assistant (Cardiology), St Vincents Hospital, Sydney
- 1993- Staff Cardiologist, St Vincents Hospital, Sydney
- 1998 Director, Coronary Care Unit, St Vincent's Hospital, Sydney

# Publications
Kuchar has over 50 professional publications to his credit.

# Personal life
In addition to his work in cardiology, Kuchar is an accomplished painter whose artwork has been published and shown in a number of Sydney locations.  He was the winner of the Oil Section of the Waverley Art Prize in July 2007.
Kuchar married Dianne Neuhauser of Melbourne in 1978.  The two have a daughter, Cara, born August 2, 1982, and two sons, Ari Emil, born in 1984, and Natan Eli, born June 2, 1988.
On December 22, 2005 Cara Kuchar married Bondi dentist Dr. Haddon Suttner, a local family and cosmetic dentist. Ari Kuchar is currently engaged to Chava Ben Avraham.
In 1997 Kuchar was included in the book Who's Who in the World.
Dental arches

# Overview
The superior dental arch is larger than the inferior, so that in the normal condition the teeth in the maxillae slightly overlap those of the mandible both in front and at the sides.
Since the upper central incisors are wider than the lower, the other teeth in the upper arch are thrown somewhat distally, and the two sets do not quite correspond to each other when the mouth is closed: thus the upper canine tooth rests partly on the lower canine and partly on the first premolar, and the cusps of the upper molar teeth lie behind the corresponding cusps of the lower molar teeth.
The two series, however, end at nearly the same point behind; this is mainly because the molars in the upper arch are the smaller.
Dermatophagia

# Background
Dermatophagia (sufferers can be called wolf-biters) is a form of neurodermatosis wherein a sufferer habitually bites their skin. It often takes the form of chewing on the fingers, and when left unchecked, can lead to discoloration and damage.

# Behavior
Sufferers of dermatophagia often chew their skin out of habit or compulsion, and can do so on a variety of places on their body. Commonly, it seems to manifest in the fingers, where the skin around fingernails and surrounding joints get the brunt of the damage. If the behavior is left unchecked for an extended period, callouses may start to develop where most the biting is done.
Skin chewing can be bolstered by times of apprehension and other unpleasant events. Another disorder, known as dermatillomania, the act of peeling one's skin, can sometimes accompany dermatophagia.