OpenMed/multicare-articles huggingface dataset:
DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature
Authors: Fatemeh Sodeifian, Noosha Samieefar, Sepideh Shahkarami, Elham Rayzan, Simin Seyedpour, Meino Rohlfs, Christoph Klein, Delara Babaie, Nima Rezaei
Journal: Case Rep Med (2023)
MeSH terms: Case Reports

Background:
Primary ciliary dyskinesia (PCD), also known as the immotile-cilia syndrome, is a clinically and genetically heterogeneous syndrome. Improper function of the cilia causes impaired mucociliary clearance. Neonatal respiratory distress, rhinosinusitis, recurrent chest infections, wet cough, and otitis media are respiratory presentations of this disease. It could also manifest as infertility in males as well as laterality defects in both sexes, such as situs abnormalities (Kartagener syndrome). During the past decade, numerous pathogenic variants in 40 genes have been identified as the causatives of primary ciliary dyskinesia. DNAH11 (dynein axonemal heavy chain 11) is a gene that is responsible for the production of cilia's protein and encodes the outer dynein arm. Dynein heavy chains are motor proteins of the outer dynein arms and play an essential role in ciliary motility. Case Presentation. A 3-year-old boy, the offspring of consanguineous parents, was referred to the pediatric clinical immunology outpatient department with a history of recurrent respiratory tract infections and periodic fever. Furthermore, on medical examination, situs inversus was recognized. His lab results revealed elevated levels of erythrocyte sedimentation rate (ESR) and C reactive protein (CRP). Serum IgG, IgM, and IgA levels were normal, while IgE levels were elevated. Whole exome sequencing (WES) was performed for the patient. WES demonstrated a novel homozygous nonsense variant in DNAH11 (c.5247G > A; p. Trp1749Ter).
Conclusion:
We reported a novel homozygous nonsense variant in DNAH11 in a 3-year-old boy with primary ciliary dyskinesia. Biallelic pathogenic variants in one of the many coding genes involved in the process of ciliogenesis lead to PCD.
Cryptococcal Meningitis in an Immunocompetent Patient with a Ventriculo-Pleural Shunt
Authors: Raynieri Fernandez, Jose Henao, Catherine Creticos
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

Cryptococcal meningitis is the most common form of infection caused by Cryptococcus yeast species, followed by pulmonary infection. It is an opportunistic infection seen in patients with impaired cell immunity, most frequently in HIV patients and solid organ transplant recipients; however, it can occur in patients with no apparent immunodeficiency. We describe the case of Cryptococcus neoformans meningitis in an immunocompetent patient with aseptic cerebrospinal fluid analysis which highlights the heterogeneity of this disease.
Community-Acquired Pneumonia due to Streptococcus pneumoniae: When to Consider Coinfection with Active Pulmonary Tuberculosis
Authors: Ruslan Garcia
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

Community-acquired pneumonia (CAP) is an important cause of hospitalizations in adults. In the United States, Streptococcus pneumoniae is the most frequently identified bacterial pathogen responsible for CAP. Other etiologic pathogens of CAP vary based on the geographic region. Mycobacterium tuberculosis is an uncommon cause of CAP in the United States, while it is a principal cause in many African and Asian countries. Coinfection with Streptococcus pneumoniae and Mycobacterium tuberculosis is rare and has only been reported in the setting of underlying HIV infection in areas of high tuberculosis prevalence. Here, we report a case of CAP in the absence of HIV, where Streptococcus pneumoniae was identified on admission and delay in diagnosis of concomitant active pulmonary tuberculosis led to inappropriate isolation. In addition to a high index of suspicion, epidemiologic and radiographic findings can be helpful to recognize tuberculosis as a cause of CAP even when other pathogens have already been identified.
Gynecologic bleeding revealing vaginal metastasis of renal cell carcinoma
Authors: Zineb Benbrahim, Ali Chouaib, Renaud Mazeron, Marie Bénédicte Leger-Ravet, Catherine Lefort, Catherine Lhommé, Omar El Mesbahi, Bernard Escudier
Journal: Pan Afr Med J (2013)
Keywords: gynecologic bleeding, carcinoma, metastasis, vagina
MeSH terms: Carcinoma, Renal Cell / secondary, Hemorrhage / etiology, Kidney Neoplasms / pathology, Vaginal Neoplasms / secondary, Case Reports, Aged, Carcinoma, Renal Cell / complications, Carcinoma, Renal Cell / pathology, Carcinoma, Renal Cell / radiotherapy, Carcinoma, Renal Cell / surgery, Female, Hemorrhage / radiotherapy, Humans, Kidney Neoplasms / surgery, Lymphatic Metastasis, Neoplastic Cells, Circulating, Nephrectomy, Renal Veins, Vaginal Neoplasms / complications, Vaginal Neoplasms / pathology, Vaginal Neoplasms / radiotherapy

Vaginal metastases of renal cell carcinoma have been rarely described. We report a case of a 75-year old woman, who underwent radical right nephrectomy for a renal cell carcinoma. Tumour was classified pT3bN0M0 and grade III of Furhmann grading. One year later, scanner discovered mediastinal and lombo-aortic lymph nodes. She received 2 months of immunotherapy associated with bevacizumab, but stopped because of intolerance. She was readmitted in our institute for vaginal bleeding. Clinical investigations showed a vaginal mass and biopsy revealed a renal cell carcinoma metastasis. This case suggests that retrograde venous dissemination may be at the origin of vaginal metastasis of renal cell carcinoma and emphasized the preventive value of early ligature of renal vein.
Hepatic larva migrans presenting with upper gastrointestinal haemorrhage: A case report
Authors: Ranjan K Patel, Shruti Mittal
Journal: SA J Radiol (2021)
Keywords: coil embolisation, hepatic artery, hepatic larva migrans, portal vein thrombosis, pseudoaneurysm, visceral larva migrans (vlm)
MeSH terms: Case Reports

Visceral larva migrans (VLM) occurs because of a host inflammatory response to the migrating larvae of a nematode. Patients usually present with fever, hepatomegaly and abdominal pain; vascular arterial complications are uncommon. A 19-year female presented with fever, jaundice, abdominal discomfort and melena. Computed tomography (CT) revealed multiple discrete, clustered, complex hepatic cystic lesions consistent with VLM, along with an arterial pseudoaneurysm from the right hepatic artery which was managed with endovascular coil embolisation.
A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion
Authors: Gerasimos Kolaitis, Christian G Bouwkamp, Alexia Papakonstantinou, Ioanna Otheiti, Maria Belivanaki, Styliani Haritaki, Terpsihori Korpa, Zinovia Albani, Elena Terzioglou, Polyxeni Apostola, Aggeliki Skamnaki, Athena Xaidara, Konstantina Kosma, Sophia Kitsiou-Tzeli, Maria Tzetis
Journal: Child Adolesc Psychiatry Ment Health (2016)
Keywords: 11p155 deletion, 20q1333 deletion syndrome, 47,xyy syndrome, 7q1123 williams–beuren syndrome region micro duplication, adhd, asd, conduct disorder
MeSH terms: Case Reports

Background:
This is a case with multiple chromosomal aberrations which are likely etiological for the observed psychiatric phenotype consisting of attention deficit hyperactivity and conduct disorders.
Case presentation:
We report on an 11 year-old boy, admitted to the pediatric hospital for behavioral difficulties and a delayed neurodevelopmental trajectory. A cytogenetic analysis and high-resolution microarray comparative genomic hybridization (CGH) analysis was performed. The cytogenetic analysis revealed 47,XYY syndrome, while CGH analysis revealed an additional duplication and two deletions. The 7q11.23 duplication is associated with speech and language delay and behavioral symptoms, a 20q13.33 deletion is associated with autism and early onset schizophrenia and the 11p15.5 microdeletion is associated with developmental delay, autism, and epilepsy. The patient underwent a psychiatric history, physical examination, laboratory testing, and a detailed cognitive, psychiatric, and occupational therapy evaluation which are reported here in detail.
Conclusions:
In the case of psychiatric patients presenting with complex genetic aberrations and additional psychosocial problems, traditional psychiatric and psychological approaches can lead to significantly improved functioning. Genetic diagnostic testing can be highly informative in the diagnostic process and may be applied to patients in psychiatry in case of complex clinical presentations.
Synthetic Cannabinoid Abuse and a Rare Alpha-1-Antitrypsin Mutant Causing Acute Fulminant Hepatitis: A Case Report and Review of the Literature
Authors: Kurt J Knowles, Eric X Wei, Abhishek Seth, John Bienvenu, James Morris, Kenneth Manas, Paul Jordan, Moheb Boktor
Journal: Case Reports Hepatol (2017)
MeSH terms: Case Reports

Synthetic cannabinoids (SCs) abuse is on the rise because they are easily obtained over the counter; they are potent psychoactive compounds and routine drug testing does not detect them. As their abuse is on the rise, so are their detrimental side effects; however, the occurrence of acute hepatitis due to SCs abuse has been reported only once before. In this case, testing revealed that the patient was also heterozygous for alpha-1-antitrypsin (A-1-AT) with the phenotype of PI⁎EM. This mutant phenotype has never been reported as a cause of A-1-AT disease and the abuse of SCs in a patient with this phenotype has also never been reported. This case illustrates the possible need to expand routine drug testing for SCs and consider A-1-AT phenotyping in certain clinical scenarios.
Extrapelvic endometriosis in abdominal wall scar and PPAR gamma expression: A case report
Authors: Achmad Kemal Harzif, Melisa Silvia, Ana Mariana, Lydia Olivia, Bara Tracy Lovita, Budi Wiweko
Journal: Int J Surg Case Rep (2018)
Keywords: abdomen wall, case report, extrapelvic endometriosis, ppar, r gamma

Introduction:
Endometriosis is a frequent gynecological disorder. Its findings on the abdominal wall are rare cases, usually reported with a history of former surgery. The activation of PPARy expression could be one of alternative non-hormonal treatment for endometriosis.
Presentation of case:
A patient, 34 years old, suspected of endometriosis since 5 years ago because of pain during menstruation. Since the last 4 months, she had worsening of dysmenorrhea and palpable lumps during menses. She had previously performed cesarean section surgeries 3 times and a laparotomy cystectomy due to left endometriosis cyst. From ultrasound examination, on the abdominal wall (submusculus) there is a firmly defined hypoechoic mass, sized 32 × 10 × 15 mm, derived from the mass of endometriosis.
Discussion:
The endometriosis findings on the abdominal wall are rare cases. Symptoms usually are cyclic pain which is also accompanied by a palpable lump. A meta-analysis of 16 studies concluded that sensory excitatory threshold and pain tolerance approached the lowest value shortly before and during menstruation. In humans, administration of PPARy agonists reduced pain symptoms. Counseling to patients is given about the possibility of recurrence.
Conclusion:
PPAR expressivity assessment has not been used as a target for endometriosis therapy. Further studies separating epithelial tissue and stroma can be performed to prove the role of PPARγ in the pathogenesis of endometriosis.
Run or Die: A Didactique Case Report of a Rare Cause of Lactic Acidosis in Emergency Medicine
Authors: Jean-Baptiste Bouillon-Minois, Jeannot Schmidt, Frédéric Dutheil
Journal: Case Rep Emerg Med (2020)
MeSH terms: Case Reports

Introduction:
Acidosis with traumatic brain injury is a common and serious cause of consciousness disorders in emergency medicine. Extreme acidosis is significantly associated with high mortality (more than 67% if pH levels are under 7). Case Presentation. We describe the case of a 23-year-old man with unknown medical history who was found near the entrance of the emergency department sweat with a tachypnea (55 per minute), a lot of blood around him, and confused. The initial hypothesis was a hemorrhagic shock after a fight, but he did not have any hemodynamic trouble. The initial venous gazometry showed a major lactic acidosis (pH less than 6,8, HCO3 incalculable and lactate up to 20 mmol/L). A Focused Assessment with Sonography in Trauma-echography (FAST-echo) and secondly a body-tomodensitometry were conducted and did not reveal any anomaly. The team was now thinking that the patient situation was caused by an epileptic seizure (association of lactic acidosis and confusion), and the bleed was a consequence of the head trauma. The patient was treated only by NaCl 0,9%. One hour after his admission, the tachypnea began to decrease and he could speak and explain what was happen. He had to run as fast as possible to escape to a fight. The last gazometry, realized 2 hours after his admission, finds a normal pH at 7,35, HCO3 24,5 mmol/L and lactate 2,6 mmol/L. He was authorized to going home.
Conclusion:
We report here a rare case of major lactic acidosis in emergency medicine caused by a supramaximal effort.
Non-ST Elevation Myocardial Infarction and Severe Peripheral Artery Disease in a 20-Year-Old with Perinatally Acquired Human Immunodeficiency Virus Infection
Authors: Purva Sharma, Mohamad Kabach, Samineh Sehatbakhsh, Rashida Tharpe, Shaun Isaac, Robert Chait, Kleper De Almeida
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

Human immunodeficiency virus (HIV) infection confers an increased risk of cardiovascular disease, including acute coronary syndrome (ACS). Patients with perinatally acquired HIV may be at increased risk due to the viral infection itself and exposure to HAART in utero or as part of treatment. A 20-year-old female with transplacentally acquired HIV infection presented with symptoms of transient aphasia, headache, palpitations, and blurry vision. She was admitted for hypertensive emergency with blood pressure 203/100 mmHg. Within a few hours, she complained of typical chest pain, and ECG showed marked ST depression. Troponin I levels escalated from 0.115 to 10.8. She underwent coronary angiogram showing 95% stenosis of the right coronary artery (RCA) and severe peripheral arterial disease including total occlusion of both common iliacs and 95% infrarenal aortic stenosis with collateral circulation. She underwent successful percutaneous intervention with a drug-eluting stent to the mid-RCA. Patients with HIV are at increased risk for cardiovascular disease. Of these, coronary artery disease is one of the most critical complications of HIV. Perinatally acquired HIV infection can be a high-risk factor for cardiovascular disease. A high degree of suspicion is warranted in such patients, especially if they are noncompliant to their ART.
Management and Follow-Up of Complicated Crown Fractures with Intrusive Luxation of Maxillary Incisors in an 8-Year-Old Boy
Authors: Niusha Abazarian, Shabnam Milani, Moahammad Hassan Hamrah, Marzieh Salehi Shahrabi
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Intrusive luxation is a severe form of dental injury which causes damage to the pulp and supporting structures of a tooth because of its dislocation into the alveolar process. This paper shows the case of the reeruption of maxillary incisors accompanied by complicated crown fractures after 3 months. An 8-year-old boy patient was referred to the Department of Pedodontic Dentistry of Tehran University of Medical Science, Tehran, Iran, 18 hours after a fall at school. Clinical and radiographic examinations revealed intrusive luxation of both incisors with complicated crown fractures. Cervical pulpotomy is the treatment of choice for traumatized immature intruded teeth with pulp exposure. Two months later, the right central incisor teeth reerupted to a normal position and the final aesthetic restorations were done. The left central incisor was spontaneously repositioned with external root resorption, and the team decided to use interim medication (calcium hydroxide) in the root canal for stopping the process of resorption, and by the 9-month follow-up, the process of resorption had been stopped. An MTA plug was placed into the canal, and the final esthetic restorations were done.
Endovascular reconstruction of bilateral upper limbs ischemia in a patient with arterial outlet syndrome: A case report and literature review
Authors: Mi Zhou, Wei Jia, Peng Jiang, Zhiyuan Cheng, Yunxin Zhang, Jianlong Liu
Journal: Front Surg (2022)
Keywords: rotarex, arterial thoracic outlet syndrome, drug-coated balloon, endovascular, ischemia
MeSH terms: Case Reports

Background:
Acute upper limb ischemia in a patient with thoracic outlet syndrome is a rare but serious clinical disorder. If the disease is not treated promptly due to underdiagnosis, it could lead to distal artery embolization and limb-threatening ischemia. Revascularizing upper extremity arteries in a timely manner could rescue ischemic limbs and improve the patient's quality of life. We reported here a case of a patient who presented with bilateral upper limb ischemia caused by arterial thoracic outlet syndrome.
Case presentation:
A 63-year-old woman who presented with sudden bilateral upper extremity cold, numbness, pulselessness, and altered temperature sensation was first diagnosed with arterial thoracic outlet syndrome. The patient had performed a lot of pull-up and lat pull-down exercises in the 2 months prior to the onset of the above symptoms. Color Doppler ultrasonography showed thrombosis in the right axillary artery and left subclavian and axillary artery. The patient received Rotarex mechanical thrombectomy combined with drug-coated balloon percutaneous transluminal angioplasty (PTA) to complete revascularization of the upper extremities and achieved a full recovery finally.
Conclusions:
Complete endovascular revascularization for treating arterial thoracic outlet syndrome is a minimally invasive and effective method, especially for upper extremity ischemic lesions caused by nonbone compression.
Surgical Orthodontic Treatment of a Patient Affected by Type 1 Myotonic Dystrophy (Steinert Syndrome)
Authors: Laura Cacucci, Beatrice Ricci, Maria Moretti, Giulio Gasparini, Sandro Pelo, Cristina Grippaudo
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

Myotonic dystrophy, or Steinert's disease, is the most common form of muscular dystrophy that occurs in adults. This multisystemic form involves the skeletal muscles but affects also the eye, the endocrine system, the central nervous system, and the cardiac system. The weakness of the facial muscles causes a characteristic facial appearance frequently associated with malocclusions. Young people with myotonic dystrophy, who also have severe malocclusions, have bad oral functions such as chewing, breathing, and phonation. We present a case report of a 15-year-old boy with anterior open bite, upper and lower dental crowding, bilateral crossbite, and constriction of the upper jaw with a high and narrow palate. The patient's need was to improve his quality of life. Because of the severity of skeletal malocclusion, it was necessary to schedule a combined orthodontic and surgical therapy in order to achieve the highest aesthetic and functional result. Although therapy caused an improvement in patient's quality of life, the clinical management of the case was hard. The article shows a balance between costs and benefits of a therapy that challenges the nature of the main problem of the patient, and it is useful to identify the most appropriate course of treatment for similar cases.
Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis
Authors: Rapeepat Thewamit, Chaiyos Khongkhatithum, Lunliya Thampratankul, Wuttichart Kamolvisit, Arthaporn Khongkrapan, Duangrurdee Wattanasirichaigoon
Journal: Front Pediatr (2023)
Keywords: cerebral venous sinus thrombosis, cleft palate, neonatal encephalopathy, nonketotic hyperglycinemia, whole exome sequencing
MeSH terms: Case Reports

Nonketotic hyperglycinemia (NKH) is in most cases a fatal inborn error of metabolism which usually presents during the neonatal period as encephalopathy and refractory seizures. The reported congenital anomalies associated with NKH included corpus callosal agenesis, club foot, cleft palate, and congenital heart disease. Here, we report a newborn who presented with encephalopathy without overt seizures, cerebral venous sinus thrombosis, and cleft palate. Electroencephalography showed a burst suppression pattern, which suggests the etiology could be due to a metabolic or genetic disorder. The amino acid analysis of plasma and cerebrospinal fluid showed elevated glycine. Whole exome sequencing identified a heterozygous c.492C > G; p.Tyr164Ter variant in exon 4 of the GLDC gene inherited from the patient's father. Further long-read whole genome sequencing revealed an exon 1-2 deletion in the GLDC gene inherited from the patient's mother. Additional analyses revealed no pathogenic variants of the cleft palate-related genes. The cleft palate may be an associated congenital anomaly in NKH. Regarding cerebral venous sinus thrombosis, we found a heterozygous variant (p.Arg189Trp) of the PROC gene, which is a common cause of thrombophilia among Thai newborns. A neonate with NKH could present with severe encephalopathy without seizures. A close follow up for clinical changes and further next generation sequencing are crucial for definite diagnosis in neonates with encephalopathy of unclear cause.
Langerhans cell histiocytosis following Hodgkin lymphoma: a case report from Iran
Authors: Nahid Reisi Dehkordi, Parvin Rajabi, Azar Naimi, Mitra Heidarpour
Journal: J Res Med Sci (2010)
Keywords: hodgkin disease, immunohistochemistry, langerhans cell histiocytosis
MeSH terms: Case Reports

The occurrence of Langerhans Cell Histiocytosis (LCH) in a patient with lymphoma is an indication of a probable relationship between them. The two conditions have similarities both clinically and histopathologically. Occurrence of these two conditions in the same patient, particularly not simultaneously, is rare. According to different management and treatment of these conditions, exact histopathologic evaluation and even using immunohistochemistery (IHC) can prevent misdiagnosis. In this report, a 10 year old boy presented who afflicted with LCH 3 years after diagnosis and treatment of mixed cellularity Hodgkin lymphoma.