OpenMed/multicare-articles huggingface dataset:
Identification of Parkinson's Disease-Causing Genes via Omics Data
Authors: Xinran Cui, Chen Xu, Liyuan Zhang, Yadong Wang
Journal: Front Genet (2021)
Keywords: gwas summary data, parkinson’s disease, smr analysis, eqtl summary data, risk genes

Parkinson's disease (PD) is the second most frequent neurogenic disease after Alzheimer's disease. The clinical manifestations include mostly motor disorders, such as bradykinesia, myotonia, and static tremors. Since the cause of this pathological features remain unclear, there is currently no radical treatment for PD. Environmental and genetic factors are thought to contribute to the pathology of PD. To identify the genetic factors, some studies employed the Genome-Wide Association Studies (GWAS) method and detected certain genes closely related to PD. However, the functions of these gene mutants in the development of PD are unknown. Combining GWAS and expression Quantitative Trait Loci (eQTL) analysis, the biological meaning of mutation could be explained to some extent. Therefore, the present investigation used Summary data-based Mendelian Randomization (SMR) analysis to integrate of two PD GWAS datasets and four eQTL datasets with the objective of identifying casual genes. Using this strategy, we found six Single Nucleotide Polymorphism (SNP) loci which could cause the development of PD through altering the susceptibility gene expression, and three risk genes: Synuclein Alpha (SNCA), Mitochondrial Poly(A) Polymerase (MTPAP), and RP11-305E6.4. We proved the accuracy of results through case studies and inferred the functions of these genes in PD. Overall, this study provides insights into the genetic mechanism behind PD, which is crucial for the study of the development of this disease and its diagnosis and treatment.
Prenatal diagnosis and postnatal ultrasound findings of cloacal anomaly: a case report
Authors: Lívia Teresa Moreira Rios, Edward Araujo Júnior, Luciano Marcondes Machado Nardozza, Ana Carolina Rabachini Caetano, Antonio Fernandes Moron, Marília da Glória Martins
Journal: Case Rep Pediatr (2012)

Cloacal malformation is an extremely rare fetal pathological condition that presents as a variety of defects. It predominantly affects females, with prevalence of 1 in 50,000 births. Prenatal ultrasonography on a 20-year-old caucasian woman (G4P1A2) at 33 weeks of pregnancy showed the fetus having a large cystic mass in the lower abdomen with a single septum, bilateral hydronephrosis, ambiguous genitalia, and a single umbilical artery. The pregnancy developed accentuated oligohydramnios, and presence of a fetal brain-sparing effect was diagnosed using arterial Doppler velocimetry. The newborn showed abdominal distension, ambiguous genitalia, and rectal atresia, with a single perineal opening. Pelvic ultrasound done on the first day after delivery revealed the presence of a large retrovesical septated cystic mass of dense content in the fetal abdomen, and bilateral hydronephrosis. Hysterotomy was performed, and 70 mL of dense liquid was drained through an abdominal colostomy. The infant died on the 27th day of life as a result of infectious complications. Prenatal diagnosing of female urogenital anomalies is usually difficult because of their rarity, different types of manifestation, and lack of characteristic ultrasound signs. Presence of a septated cyst with dense content in the fetal abdomen confirms the finding of hydrometrocolpos, thus raising clinical suspicion of a cloacal anomaly.
Heart Failure and a Plant-Based Diet. A Case-Report and Literature Review
Authors: Kathleen E Allen, Divya Gumber, Robert J Ostfeld
Journal: Front Nutr (2019)
Keywords: diet, heart failure, hypertension, plant-based, vegetarian
MeSH terms: Case Reports

A 54-year-old female with grade 3 obesity body mass index (BMI 45.2 kg/m2) and type II diabetes (hemoglobin A1c 8.1%) presented to her primary care physician in May 2017 with a chief complaint of left lower extremity edema. Work-up revealed heart failure with depressed left ventricular systolic function. Upon diagnosis, she substantially altered her lifestyle, changing her diet from a "healthy western" one to a whole food plant-based one. Guideline directed medical therapy for heart failure was also utilized. Over five and a half months, she lost 22.7 kg and reversed her diabetes without the use of diabetes medications. Her left ventricular systolic function normalized. Although causality cannot be determined, this case highlights the potential role of a plant-based diet in helping to reverse heart failure with reduced ejection fraction. This article will review how a minimally processed whole food plant-based dietary pattern and similar dietary patterns, such as the Dietary Approach to Stop Hypertension diet, may contribute to the reversal of left ventricular dysfunction.
Long-Term Consequences of Fetal Angiotensin II Receptor Antagonist Exposure
Authors: K Wegleiter, M Waltner-Romen, R Trawoeger, U Kiechl-Kohlendorfer, E Griesmaier
Journal: Case Rep Pediatr (2018)
MeSH terms: Case Reports

Fetal angiotensin II receptor antagonist exposure is associated with major complications and even death when administered during pregnancy. Neonates frequently require intensive care treatment, and mortality is high. Despite this well-known risk potential, a considerable number of women still receive angiotensin II receptor antagonists during pregnancy to treat arterial hypertension. Although clinical symptoms in the neonatal period are well described, few reports address long-term follow-up after fetal exposure to angiotensin II receptor antagonists. We here report on a patient who was unwittingly exposed to olmesartan medoxomil during pregnancy. After birth, the neonate presented with mild clinical symptoms, mainly affecting the kidneys. However, neurodevelopmental follow-up revealed a delay in motor development with muscular hypotonia and failure to thrive at age 2 years. This case highlights the fact that, despite not causing neurological symptoms in the neonatal period, fetal angiotensin II receptor antagonist exposure during pregnancy might lead to neurodevelopmental impairment in later life.
Conservative Management of a COVID-19-positive Patient With Emphysematous Pyelonephritis: A Case Report
Authors: Abdulaziz K AlMulhim, Ahmed Alamri, Ali AlAbandi, Mohammed AlDahoos, Abdullah Alfulij
Journal: Cureus (2023)
Keywords: antibiotics, conservative, emphysematous pyelonephritis, infection, uti
MeSH terms: Case Reports

Herein, we present a case of emphysematous pyelonephritis with septic shock that was treated conservatively. A 44-year-old woman with diabetes mellitus presented to the emergency department with acute abdominal discomfort. Clinical examination revealed that the patient was conscious but vitally unstable. Therefore, the patient required inotropic support. A computed tomography scan revealed gas in the left kidney, suggestive of emphysematous pyelonephritis. Subsequently, the patient was treated conservatively and stabilized with broad-spectrum antibiotics, strict blood glucose management, and drainage.
Mandibular Symmetrical Bilateral Canine-Lateral Incisors Transposition: Its Early Diagnosis and Treatment Considerations
Authors: Yehoshua Shapira, Tamar Finkelstein, Rana Kadry, Shirley Schonberger, Nir Shpack
Journal: Case Rep Dent (2016)
MeSH terms: Case Reports

Bilateral mandibular tooth transposition is a relatively rare dental anomaly caused by distal migration of the mandibular lateral incisors and can be detected in the early mixed dentition by radiographic examination. Early diagnosis and interceptive intervention may reduce the risk of possible transposition between the mandibular canine and lateral incisor. This report illustrates the orthodontic management of bilateral mandibular canine-lateral incisor transposition. Correct positioning of the affected teeth was achieved on the left side while teeth on the right side were aligned in their transposed position. It demonstrates the outcome of good alignment of the teeth in the dental arch.
Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse Models
Authors: Andrea J Arreguin, Holly Colognato
Journal: Front Mol Neurosci (2020)
Keywords: lama2, mdc1a, brain development, congenital muscular dystrophy, dystroglycanopathies, laminin

Laminin α2 gene (LAMA2)-related Congenital Muscular Dystrophy (CMD) was distinguished by a defining central nervous system (CNS) abnormality-aberrant white matter signals by MRI-when first described in the 1990s. In the past 25 years, researchers and clinicians have expanded our knowledge of brain involvement in LAMA2-related CMD, also known as Congenital Muscular Dystrophy Type 1A (MDC1A). Neurological changes in MDC1A can be structural, including lissencephaly and agyria, as well as functional, including epilepsy and intellectual disability. Mouse models of MDC1A include both spontaneous and targeted LAMA2 mutations and range from a partial loss of LAMA2 function (e.g., dy2J/dy2J ), to a complete loss of LAMA2 expression (dy 3K/dy 3K). Diverse cellular and molecular changes have been reported in the brains of MDC1A mouse models, including blood-brain barrier dysfunction, altered neuro- and gliogenesis, changes in synaptic plasticity, and decreased myelination, providing mechanistic insight into potential neurological dysfunction in MDC1A. In this review article, we discuss selected studies that illustrate the potential scope and complexity of disturbances in brain development in MDC1A, and as well as highlight mechanistic insights that are emerging from mouse models.
A novel case of resolved postherpetic neuralgia with subsequent development of trigeminal neuralgia: a case report and review of the literature
Authors: Alexander Mason, Kristen Ayres, Sigita Burneikiene, Alan T Villavicencio, E Lee Nelson, Sharad Rajpal
Journal: Case Rep Med (2013)

A 72-year-old female patient is presented, who was diagnosed with herpes zoster along the left ophthalmic branch of the trigeminal nerve with associated cutaneous vesicles. The patient subsequently developed postherpetic neuralgia in the same dermatome, which, after remission, transformed into paroxysmal trigeminal pain. The two different symptom sets, with the former consistent with PHN and the later consistent with trigeminal neuralgia, were unique to our practice and the literature.
Rhizopus homothallicus, an emerging pathogen causing cavitary lung lesions
Authors: Juhi Taneja, Kuhu Chatterjee, Ruchi Arora Sachdeva, S Zafar Abbas, M K Sen
Journal: Access Microbiol (2023)
Keywords: rhizopus homothallicus, cavitary, mucormycosis, pulmonary
MeSH terms: Case Reports

Introduction:

Rhizopus homothallicus is an emerging pathogen that causes pulmonary mucormycosis.
Case presentation:
We report a case of pneumonia caused by R. homothallicus in a 54-year-old type 2 diabetic patient. The organism was isolated from bronchoalveolar lavage fluid and preliminarily identified by fungal morphology and finally by sequencing of the internal transcribed spacer region.
Conclusion:
Mucormycosis may be associated with cavitary lung lesions against a backdrop of poorly controlled diabetes or other immunosuppressed states. Pulmonary mucormycosis may have variable clinical and radiological presentations. Therefore, strong clinical suspicion and prompt management can address the high fatality associated with the disease.
A Case of Poisoning with Abrus precatarius Complicated with Bilateral Basal Ganglia Haemorrhage
Authors: Arun Rajaratnam, Kishan Dissanayake, Kiertie Kularatne, Sunil Bowattage
Journal: Case Rep Neurol Med (2022)
MeSH terms: Case Reports

Abrus precatarius is a tropical climber, whose seeds contain abrin, which is known to cause toxicity in humans. We report a case of a young girl, who presented with haemorrhagic enterocolitis, bilateral septal vein thrombosis, and basal ganglia haemorrhage leading to seizures and coma, following ingestion of toxic A. precatarius seeds. To the best of our knowledge, this is the first ever case to describe such an intracranial complication of abrin poisoning.
A Very Rare Case: HPV-Negative Vulvar Cancer in an Adolescent
Authors: Ilker Kahramanoglu, Hasan Turan, Yahya Ozgun Oner, Tugan Bese, Sennur Ilvan, Macit Arvas, Fuat Demirkiran
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Carcinoma of the vulva is usually regarded as a disease of older women, with the typical age of 65-85 years. There are a limited number of reports of vulvar cancer cases younger than 30 years. These patients have usually risk factors such as human papillomavirus (HPV) infection and immunosuppression. Herein, we present a case of invasive squamous vulvar cancer in an 18-year-old patient without any risk factor. Vulvar radical local excision and bilateral inguinal sentinel lymph node biopsies were performed. The clitoris was preserved during the surgery. Patient did not receive adjuvant therapy. Follow-up after 12 months of the disease showed no evidence of disease. Vulvar carcinoma in very young women may develop without any predisposing factor. Early detection will result in better survival. So, there should be a high index of suspicion when a vulvar lesion is seen, even if the patient falls below the typical age range and does not carry any well-known risk factors such as HPV infection and immunodeficiency.
A case report and review of literature: Tuberculous pericarditis with pericardial effusion as the only clinical manifestation
Authors: Shipeng Wang, Jingyue Wang, Junqian Liu, Zhiyu Zhang, Jiahuan He, Yushi Wang
Journal: Front Cardiovasc Med (2022)
Keywords: case, diagnosis, pericardial effusion (pe), review, tuberculosis, tuberculous pericarditis (tbp)
MeSH terms: Case Reports

Tuberculosis is a main cause of pericardial disease in developing countries. However, in patients with atypical clinical presentation, it can lead to misdiagnosis, missed diagnosis, and delayed treatment. In this study, we report a case of a 61-year-old woman admitted to the cardiac intensive care unit with "weakness and loss of appetite" and a large pericardial effusion shown by echocardiography. After hospitalization, a pericardiocentesis was performed, and the pericardial fluid was hemorrhagic. However, the Xpert MTB/RIF and T-SPOT tests were negative, and repeated phlegm antacid smears and culture of pericardial fluid did not reveal antacid bacilli. The patient eventually underwent thoracoscopic pericardial biopsy, which revealed extensive inflammatory cells and significant granulomas. Combined with the fact that the patient's pericardial effusion was exudate, the patient was considered to be suspected of tuberculous pericarditis (TBP) and given empirical anti-tuberculosis treatment the patient's symptoms improved and the final diagnosis was TBP. In this case report, it is further shown that a negative laboratory test cannot exclude tuberculosis infection. In recurrent unexplained pericardial effusions, the pericardial biopsy is feasible. In countries with a high burden of tuberculosis, empirical antituberculosis therapy may be used to treat the pericardial effusion that excludes other possible factors.
Synchronous bilateral breast carcinoma and axillary non-hodgkin lymphoma: a case report and review of the literature
Authors: Edward F Miles, Laura L Jacimore
Journal: Case Rep Oncol Med (2012)

The use of staging imaging modalities with increased sensitivity has led to an increase in the incidence of detection of simultaneous malignancies. These cases require careful evaluation and discussion in a multidisciplinary setting to establish a treatment plan that optimizes the outcome with respect to each malignancy, particularly when treatment modalities overlap. We report a case of a patient diagnosed with axillary nodal diffuse large B-cell lymphoma (DLBCL) in a community hospital where staging workup also revealed synchronous bilateral breast carcinomas. To our knowledge, this is only the second case report of a patient with three synchronous primary malignancies: bilateral breast carcinomas and axillary DLBCL. The only other similar case report had no role for radiation or chemotherapy in the management of the indolent follicular lymphoma.
Primary Fallopian Tube Cancer in an 89-Year-Old Patient
Authors: Emmanuel N Kontomanolis, Antonios Koutras, Thomas Ntounis, Michail Diakosavvas, Kyveli Angelou, Athina A Samara, Themistoklis Grigoriadis, Pelagia Kadari, Ioannis Tsirkas, Marianna Theodora, Zacharias Fasoulakis
Journal: Case Rep Obstet Gynecol (2021)
MeSH terms: Case Reports

Fallopian tube cancer is an extremely rare gynecological condition, accounting for just 1 to 2% of all female tract malignancies. The mean age of diagnosis is similar to that of ovarian cancer, between 60 and 75 years, but it can affect a wide spectrum of ages. Advanced age and family history of ovarian and breast cancer are the main risk factors, since they are associated with increased incidence of this uncommon entity. In this study, we report a rare case of an elderly, 89-year-old patient that presented to our clinic due to vaginal bleeding.
ANCA-Associated Intrahepatic Duct Injury Associated with Levamisole-Adulterated Cocaine
Authors: Joshua K Salabei, Sara Khan, Afzal Khan, Zekarias T Asnake, Troy J Fishman, Jonathan D Stromas, Zeeshan H Ismail, John R Leibach
Journal: Case Reports Hepatol (2020)
MeSH terms: Case Reports

Damage to the liver or kidney can occur through direct toxic effects; however, damage can also be drug-induced immune-mediated. Levamisole-adulterated cocaine (LAC) is known to cause antineutrophil cytoplasmic antibody- (ANCA-) associated vasculitis and glomerulonephritis leading to acute kidney injury and end-stage renal disease. It remains unclear whether LAC is associated with hepatic duct damage. Here, we report a case with biopsy-proven evidence of intrahepatic duct damage months after being diagnosed with ANCA-associated crescentic and sclerosing glomerulonephritis caused by LAC use. This case represents the first report of LAC-induced ANCA-associated hepatic duct cholestasis in the setting of previous LAC-induced ANCA-positive glomerulonephritis.
Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency
Authors: Moisés Labrador-Horrillo, Clara Franco-Jarava, Marina Garcia-Prat, Alba Parra-Martínez, María Antolín, Sandra Salgado-Perandrés, Aina Aguiló-Cucurull, Mónica Martinez-Gallo, Roger Colobran
Journal: Front Immunol (2022)
Keywords: sash3 deficiency, combined immunodeficiency, common variable immunodeficiency, genetics, inborn errors of immunity, mutation, primary immunodeficiencies
MeSH terms: COVID-19, Common Variable Immunodeficiency / diagnosis, Common Variable Immunodeficiency / genetics, Primary Immunodeficiency Diseases, Vaccines, Case Reports, Research Support, Non-U.S. Gov't, Humans, Male, SARS-CoV-2, Vaccines

SASH3 is a lymphoid-specific adaptor protein. In a recent study, SASH3 deficiency was described as a novel X-linked combined immunodeficiency with immune dysregulation, associated with impaired TCR signaling and thymocyte survival in humans. The small number of patients reported to date showed recurrent sinopulmonary, cutaneous and mucosal infections, and autoimmune cytopenia. Here we describe an adult patient previously diagnosed with common variable immunodeficiency (CVID) due to low IgG and IgM levels and recurrent upper tract infections. Two separate, severe viral infections drew our attention and pointed to an underlying T cell defect: severe varicella zoster virus (VZV) infection at the age of 4 years and bilateral pneumonia due type A influenza infection at the age of 38. Genetic testing using an NGS-based custom-targeted gene panel revealed a novel hemizygous loss-of-function variant in the SASH3 gene (c.505C>T/p.Gln169*). The patient's immunological phenotype included marked B cell lymphopenia with reduced pre-switch and switch memory B cells, decreased CD4+ and CD8+ naïve T cells, elevated CD4+ and CD8+ TEMRA cells, and abnormal T cell activation and proliferation. The patient showed a suboptimal response to Streptococcus pneumoniae (polysaccharide) vaccine, and a normal response to Haemophilus influenzae type B (conjugate) vaccine and SARS-CoV-2 (RNA) vaccine. In summary, our patient has a combined immunodeficiency, although he presented with a phenotype resembling CVID. Two severe episodes of viral infection alerted us to a possible T-cell defect, and genetic testing led to SASH3 deficiency. Our patient displays a milder phenotype than has been reported previously in these patients, thus expanding the clinical spectrum of this recently identified inborn error of immunity.
Adult Prader-Willi Syndrome: An Update on Management
Authors: Luk Ho-Ming
Journal: Case Rep Genet (2016)

With the advancement of medical care, the survival of most patients with syndromal genetic disease is greatly improved. In this case report, we have reported an adult Prader-Willi syndrome patient who is being diagnosed at the age of 33. The clinical features and their associated complications during adulthood have been reviewed.
Duplicate gallbladder: A case report of a patient with cholecystitis after cholecystectomy
Authors: Samuel J Pera, Noah Huh, Sonia T Orcutt
Journal: Int J Surg Case Rep (2019)
Keywords: case report, cholecystitis, duplicate gallbladder, magnetic resonance cholangiopancreatography

Introduction:
Duplicate gallbladder is a congenital anomaly with various anatomical presentations that can pose difficult diagnostic dilemmas. This case presents the consequence of recurrent cholecystitis after prior cholecystectomy due to delay in diagnosis of a duplicate gallbladder and insufficient treatment at first presentation. It also provides the opportunity to discuss the anatomical variations of duplicate gallbladders and their clinical implications.
Presentation of case:
We report on a 46-year-old woman who presented with symptoms of cholecystitis despite a history of cholecystectomy. Magnetic resonance cholangiopancreatography (MRCP) as well as review of intraoperative cholangiogram from the index surgery identified a cystic structure continuous with the biliary tree. Laparoscopic cholecystectomy was performed and histology confirmed a duplicate gallbladder. The patient did well post-operatively without any complications.
Discussion:
Harlaftis's classification of duplicate gallbladder categorizes anatomical variations based on embryological origin. Though rarity contributes to missed diagnosis, modern imaging techniques that delineate the biliary tree can identify these abnormalities. Recognizing these variations can identify risk for recurrent disease preoperatively and thereby guide surgical decision-making.
Conclusion:
Duplicate gallbladder poses a risk for the unique presentation of recurrent cholecystitis despite cholecystectomy. Advanced imaging techniques that demonstrate biliary anatomy can identify duplicate gallbladder perioperatively. For those presenting with disease in any one gallbladder, resection of both is ideal to prevent recurrence of disease.
Rare finding in peripheral nerve surgery: an unicentric Castleman disease presenting as median nerve tumour
Authors: Anne Carolus, Roland Schroers, Iris Tischoff, Kirsten Schmieder, Christopher Brenke
Journal: Case Reports Plast Surg Hand Surg (2018)
Keywords: peripheral nerve tumour, infiltrative growing tumour, surgery, unicentric castleman disease
MeSH terms: Case Reports

A 51 year old man presented with progressive swelling in the upper arm. MRI revealed a solitary mass extending from the median nerve. Intraoperative finding was a tumour extending within the nerve in its proximal fibres. The histological result showed a Castleman disease.