OpenMed/multicare-articles huggingface dataset:
Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant
Authors: Ekaterina Sorkina, Polina Makarova, Liubov Bolotskaya, Irina Ulyanova, Tatyana Chernova, Anatoly Tiulpakov
Journal: Clin Diabetes Endocrinol (2020)
Keywords: bilateral cataracts, cavin1, congenital generalized lipodystrophy type 4, insulin dependent diabetes mellitus, vitamin d deficiency
MeSH terms: Case Reports

Background:
Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by the lack of adipose tissue and metabolic complications with predominantly autosomal recessive inheritance. There are 6 different genes known to cause CGL with 4 main types recognized to date, which differ by the degree of fat loss, association with mental retardation and metabolic disorders, with CGL type 1 and 2 being the most common. Twenty seven cases of СGL type 4 from Japan, Oman, UK, Turkey, Mexico, Saudi Arabia, USA were reported previously. This report details our clinical experience with the first patient from Russia with CGL type 4.
Case presentation:
A 36-year-old patient, who has been suffering from generalized lipoatrophy since the first months of life and myopathy and gastrointestinal dysmotility since early childhood, developed dysmenorrhea and diabetes mellitus at the age of 19, bilateral cataracts when she was only 22 y.o., osteoporosis with vitamin D deficiency and hypocalcemia at the age of 28, diabetic foot syndrome and hyperuricemia when she was 35 y.o. Sequencing of lipodystrophy candidate genes detected a novel pathogenic homozygous variant p.631G < T: p.E211X in the CAVIN1 gene, confirming the diagnosis of CGL type 4.
Conclusions:
In comparison with previously reported patients with CGL type 4, our patient has diabetes mellitus, vitamin D deficiency, hypocalcemia, bilateral cataracts and hyperuricemia. All these manifestations are known to be associated with other lipodystrophy syndromes, but to our knowledge it is the first time they have been reported to be associated with CGL type 4.
Life Threatening Complication during Treatment of Erysipelas due to Undiagnosed Ischemia of the Calf
Authors: Tomasz Brzeziński, Tomasz Ostrowski, Maciej Skórski
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Erysipelas is a superficial skin infection due to streptococci strains, which usually responds well to conservative treatment. Coexisting undiagnosed ischemia of the extremity may lead to severe complications. 57-year-old man developed large, circumflex ulceration of his right calf within two weeks before the admission after three-month treatment of erysipelas. Computer angiography showed chronic occlusion of the superficial femoral artery and the above knee popliteal artery. Rapid debridement of the wound took control over the infection. Patient required complex vascular procedure which allowed to prepare the ulcer for meshed skin grafts. Patient was discharged home on 64th hospital day with completely healed ulcer.
Genotypes and phenotypes of patients with Lafora disease living in Germany
Authors: David Brenner, Tobias Baumgartner, Sarah von Spiczak, Jan Lewerenz, Roger Weis, Anja Grimmer, Petra Gaspirova, Claudia D Wurster, Wolfram S Kunz, Jan Wagner, Berge A Minassian, Christian E Elger, Albert C Ludolph, Saskia Biskup, Dennis Döcker
Journal: Neurol Res Pract (2019)

Background:
Lafora progressive myoclonus epilepsy (Lafora disease) is a rare, usually childhood-onset, fatal neurodegenerative disease caused by biallelic mutations in EPM2A (Laforin) or EPM2B (NHLRC1, Malin). The epidemiology of Lafora disease in Germany is largely unknown. The objective of this retrospective case series is to characterize the genotypes and phenotypes of patients with Lafora disease living in Germany.
Methods:
The patients described in this case series initially had the suspected clinical diagnosis of Lafora disease, or unclassified progressive myoclonus epilepsy. Molecular genetic diagnostics including next generation sequencing-based diagnostic panel analysis or whole exome sequencing was performed.
Results:
The parents of four out of the 11 patients are nonconsanguineous and of German origin while the other patients had consanguineous parents. Various variants were found in EPM2A (six patients) and in EPM2B (five patients). Eight variants have not been reported in the literature so far. The patients bearing novel variants had typical disease onset during adolescence and show classical disease courses.
Conclusions:
This is the first larger case series of Lafora patients in Germany. Our data enable an approximation of the prevalence of manifest Lafora disease in Germany to 1,69 per 10 million people. Broader application of gene panel or whole-exome diagnostics helps clarifying unclassified progressive myoclonus epilepsy and establish an early diagnosis, which will be even more important as causal therapy approaches have been developed and are soon to be tested in a phase I study.
Sporadic nonautoimmune neonatal hyperthyroidism due to A623V germline mutation in the thyrotropin receptor gene
Authors: Zehra Aycan, Sebahat Yılmaz Ağladıoğlu, Serdar Ceylaner, Semra Cetinkaya, Veysel Nijat Baş, Havva Nur Peltek Kendirici
Journal: J Clin Res Pediatr Endocrinol (2010)
Keywords: thyrotropin receptor, germline mutation, nonautoimmune hyperthyroidism
MeSH terms: Hyperthyroidism / genetics, Receptors, Thyrotropin / genetics, Case Reports, Germ-Line Mutation, Goiter / pathology, Humans, Hyperthyroidism / congenital, Hyperthyroidism / drug therapy, Hyperthyroidism / pathology, Infant, Male, Propylthiouracil / therapeutic use, Thyroid Gland / pathology, Receptors, Thyrotropin, Propylthiouracil

Neonatal hyperthyroidism is a rare disorder and occurs in two forms. An autoimmune form is associated with maternal Graves' disease, resulting from transplacental passage of maternal thyroid-stimulating antibodies and a nonautoimmune form is caused by gain of function mutations in the thyrotropin receptor (TSHR) gene. Thyrotoxicosis caused by germline mutations in the TSHR gene may lead to a variety of clinical consequences. To date, 55 activating mutations of the TSHR gene have been documented. Fourteen cases with sporadic activating TSHR germline mutations have been described. Here we report a male infant with nonautoimmune hyperthyroidism due to an activating germline TSHR mutation (A623V), whose clinical picture started in the newborn period with severe hyperthyroidism. His parents did not have the same mutation. This mutation had been previously detected as a somatic mutation in patients with toxic adenomas. This is the first report of a sporadic case of nonautoimmune congenital hyperthyroidism associated with A623V mutation.
A Case Report of Basal Cell Carcinoma in a Non-Sun-Exposed Area: A Rare Presentation Mimicking Recurrent Perianal Abscess
Authors: Audrey V Carr, Edward Feller, Fouad R Zakka, Rogers C Griffith, Steven Schechter
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Basal cell carcinoma (BCC), a common malignancy, arises most often in sun-exposed areas but does rarely occur in non-sun-exposed sites. Prior tissue injury, especially sharp trauma and chronic inflammation, increases the risk of BCC. We describe a 66-year-old male patient with recurrent perianal abscesses who was found to have a large pigmented basal cell carcinoma. The mass was excised without recurrence at two-year follow-up. Perianal BCC is commonly larger at the time of diagnosis than tumors in sun-exposed sites, likely related to delay in diagnosis. Increased size can lead to increased surgical complexity and more pronounced effects on nearby structures. Early detection is important for optimal patient outcomes. In selected patients presenting with a perianal mass, basal cell carcinoma should be included on the differential diagnosis.
Endovascular Repair for a Ruptured AAA due to a Combined Type IIIb and Ia Endoleak
Authors: Konstantinos Ioannis Avgerinos, Nikolaos Melas, Athanasios Saratzis, Marianthi V Tympanidou, Nikolaos Saratzis, Ioannis Lazaridis
Journal: Case Rep Vasc Med (2018)
MeSH terms: Case Reports

We report a case of a ruptured abdominal aortic aneurysm (AAA) caused by a combined type IIIb and Ia endoleak. Also, we propose the mechanism that resulted in this combined endoleak. Specifically, a 71-year old-man, with a previous history of endovascular aneurysm repair (EVAR) for an AAA, was diagnosed with a contained rupture. CT scan depicted a type Ia endoleak and a migrated Talent endograft. A proximal aortic cuff sealed the endoleak, but intraoperative angiography revealed that a type IIIb endoleak coexisted due to fabric tear close to the Talent bifurcation. A second aortic cuff could not seal the fabric tear; so, in-lay parallel limbs were sequentially deployed as a "kissing endograft" technique inside the cuff. Simultaneous treatment of combined type IIIb and Ia endoleaks has not yet been described. Maybe the type IIIb endoleak is the primary entity causing sac enlargement, neck recontouring, proximal migration, and ultimately type Ia endoleak, which leads to huge enlargement and rupture. Placement of an aortic cuff to seal the proximal endoleak/migration and kissing endografts limbs for the fabric tear seems a safe option in such patients.
Oral cavity metastasis: An unusual presentation of carcinoma prostate
Authors: Dileep Damodaran, N Kathiresan, B Satheesan
Journal: Indian J Urol (2008)
Keywords: oral cavity metastasis, prostate cancer, prostate specific antigen immunohistochemistry
MeSH terms: Case Reports

Oral cavity cancers form the third most common cancers among men in south India. The oral cavity is a very rare site for metastases and has been described in various cancers, particularly lung, breast, kidney and colon carcinoma. Here a very rare case of a buccal metastasis from prostate carcinoma that was originally evaluated as a primary oral cavity malignancy is presented. Histopathological examination of a biopsy of the lesion revealed papillary adenocarcinoma Grade II, nuclear Grade II, which initiated the evaluation of prostate. On evaluation diagnosis of carcinoma prostate was made which was confirmed by immunohistochemistry for PSA.
New improved incision-tubing approach for bronchoesophageal Fistula with mediastinal abscess after esophagectomy: A case report
Authors: Jianwei Cao, Mingfei Geng, Xiaoyu Huang, Changjiang Liu, Hui Li
Journal: Front Surg (2023)
Keywords: bronchoesophageal fistula, esophageal cancer, esophagectomy, gastric conduit, minimally invasive management
MeSH terms: Case Reports

Bronchoesophageal fistula is a serious threat to the survival after esophagectomy for esophageal cancer. The erosion of mediastinal abscess post anastomotic leakage is the most likely directly cause. However, the bronchoesophageal fistula with gastric conduit necrosis and mediastinal abscess is refractory to either surgical or conservative treatment. In the article, a unique case of Bronchoesophageal fistula with mediastinal abscess after gastric conduit necrosis is presented. A 74-year-old female was detected the right inferior bronchus-esophageal fistula with mediastinal abscess on 15 postoperative day after esophagectomy for esophageal cancer. A successful new improved minimally invasive management was performed.
Case Report: Novel Biallelic Mutations in ARMC4 Cause Primary Ciliary Dyskinesia and Male Infertility in a Chinese Family
Authors: Yang Gao, Chuan Xu, Qing Tan, Qunshan Shen, Huan Wu, Mingrong Lv, Kuokuo Li, Dongdong Tang, Bing Song, Yuping Xu, Ping Zhou, Zhaolian Wei, Fangbiao Tao, Yunxia Cao, Xiaojin He
Journal: Front Genet (2021)
Keywords: armc4, icsi, male infertility, oligoasthenoterazoospermia, primary ciliary dyskinesia (kartagener syndrome)
MeSH terms: Case Reports

Primary ciliary dyskinesia (PCD) is a clinically and genetically heterogeneous ciliopathy affecting the cilia and sperm flagella. Mutations in genes related to the structural and functional defects of respiratory ciliary axoneme have been reported to be the predominant cause of this symptom; however, evidence regarding male infertility and genotype-phenotype associations between some of these genes and flagellar axoneme remains unclear. Here, we reported a male patient from a non-consanguineous Chinese family who exhibited left/right body asymmetry and oligoasthenoterazoospermia factor infertility. Novel compound heterozygous mutations in ARMC4 (NM:018076: c.2095C>T: p. Gln699*; c.1679C>T: p. Ala560Val) were identified in this patient, and his parents were a heterozygous carrier for the mutations. Morphological and ultrastructural analysis of the spermatozoa from the man showed aberrant sperm flagella with axonemal disorganization and outer dynein arm (ODA) loss. In addition, immunofluorescence analysis of the spermatozoa from the proband and a control man revealed a significant lower expression of ARMC4 protein due to pathogenic mutations. Therefore, our findings help to expand the spectrum of ARMC4 pathogenic mutations and linked biallelic ARMC4 mutations to male infertility for the first time.
An illustrative case of endocardial fibroelastosis and recalcitrant intracardiac thrombosis: a case report
Authors: Denizhan Ozdemir, Isabel Oliva Cortopassi, Robert Lawrence McNamara
Journal: Thromb J (2019)
Keywords: apixaban, atrial thrombus, endocardial fibroelastosis, novel oral anticoagulant agent
MeSH terms: Case Reports

Background:
Endocardial Fibroelastosis is diffuse, accentuated proliferation of ventricular endocardium causing a rare form of restrictive cardiomyopathy in both children and adults. It is an incompletely understood cause of heart failure predominantly in Sub-Saharan Africa associated with high morbidity and mortality. Atrial fibrillation and thrombus formation are common accompanying complications and portend a poor prognosis. Due to rarity of the condition in the developed countries and lack of evidence based options, the optimal strategy for anticoagulation is unclear.
Case presentation:
Herein, we describe a relatively asymptomatic patient with endocardial fibroelastosis who has been found to have atrial fibrillation and a large thrombus in the right atrium. Currently, there is no evidence-based strategy in the management of endocardial fibroelastosis-associated intracardiac thrombus. This case report illustrates a scenario by which the use of apixaban potentially benefited or prevented the thrombus formation compared with warfarin as demonstrated by imaging findings.
Conclusions:
The patients with endocardial fibroelastosis are at risk of developing intracardiac thrombus due to sticky substrate lining cardiac chambers while being relatively asymptomatic. No directed therapy is known for the management of heart failure and any complications of subsequent arrhythmias. The general recommendations follow those of same conditions in other hosts. Novel oral anticoagulant agents can be considered in the treatment of atrial thrombus in the appropriate settings.
Metformin-Induced Generalized Bullous Fixed-Drug Eruption with a Positive Dechallenge-Rechallenge Test: A Case Report and Literature Review
Authors: Bahareh Abtahi-Naeini, Tooba Momen, Rezvan Amiri, Parvin Rajabi, Fereshte Rastegarnasab
Journal: Case Rep Dermatol Med (2023)
MeSH terms: Case Reports

Metformin is a commonly used medication in diabetic patients. It can cause different complications including cutaneous adverse reactions. Metformin-induced fixed-drug eruption (FDE) has been reported in limited cases. Due to the popularity of metformin, clinicians need to be aware of uncommon drug reactions for proper diagnosis and treatment. Herein, we report a 43-year-old man with generalized bullous lesions with a positive dechallenge-rechallenge test diagnosed as metformin-induced generalized bullous fixed-drug eruption. Metformin dosage was stopped and lesions were treated with topical clobetasol propionate and oral prednisolone and cyclosporine-A. After a 6-month follow-up, he was well without any relapsing episodes.
Anti-PD-1 Immunotherapy Combined With Stereotactic Body Radiation Therapy and GM-CSF as Salvage Therapy in a PD-L1-Negative Patient With Refractory Metastatic Esophageal Squamous Cell Carcinoma: A Case Report and Literature Review
Authors: Xiangrong Zhao, Yuehong Kong, Liyuan Zhang
Journal: Front Oncol (2020)
Keywords: gm-csf, pd-l1, esophageal squamous cell carcinoma, immunotherapy, radiotherapy
MeSH terms: Case Reports

Esophageal squamous cell carcinoma (ESCC) is a malignancy with poor prognosis, which is often diagnosed at a late stage. Effective treatment options are limited when patients fail standard systemic therapy. The application of PD-1 inhibitors have led to a paradigm shift in the treatment of ESCC, but its efficacy as monotherapy is limited. Previous studies have shown that the antitumor effects may be reinforced when a PD-1 inhibitor is combined with radiotherapy or GM-CSF. This study aimed to report a case of a patient about advanced unresectable ESCC negative expression of PD-L1, who experienced tumor progression after chemoradiotherapy and targeted therapy.A significant systemic effect was seen after PD-1 inhibitor combined with GM-CSF and stereotactic body radiotherapy (SBRT) for metastatic lesions, however, severe pneumonia occurred after the triple-combination therapy. This study also reviewed several reports about the efficacy and safety of combination therapy.
Case Report: Dual nebulised antibiotics among adults with cystic fibrosis and chronic Pseudomonas infection
Authors: Nina Mann, Shirley Murray, Zhe Hui Hoo, Rachael Curley, Martin J Wildman
Journal: F1000Res (2017)
Keywords: cystic fibrosis, pseudomonas aeruginosa, nebuliser therapy, pulmonary exacerbations

Pulmonary exacerbations in adults with cystic fibrosis (CF) and chronic Pseudomonas aeruginosa (Psae) infection are usually treated with dual intravenous antibiotics for 14 days, despite the lack of evidence for best practice. Intravenous antibiotics are commonly associated with various systemic adverse effects, including renal failure and ototoxicity. Inhaled antibiotics are less likely to cause systematic adverse effects, yet can achieve airway concentrations well above conventional minimum inhibitory concentrations. Typically one inhaled antibiotic is used at a time, but dual inhaled antibiotics (i.e. concomitant use of two different inhaled antibiotics) may have synergistic effect and achieve better results in the treatment of exacerbations. We presented anecdotal evidence for the use of dual inhaled antibiotics as an acute treatment for exacerbations, in the form of a case report. A female in her early thirties with CF and chronic Psae infection improved her FEV 1 by 5% and 2% with two courses of dual inhaled antibiotics to treat exacerbations in 2016. In contrast, her FEV 1 changed by 2%, -2%, 0% and 2%, respectively, with four courses of dual intravenous antibiotics in 2016. Baseline FEV 1 was similar prior to all six courses of treatments. The greater FEV 1 improvements with dual inhaled antibiotics compared to dual intravenous antibiotics suggest the potential role of using dual inhaled antibiotics to treat exacerbations among adults with CF and chronic Psae infection, especially since a greater choice of inhaled anti-pseudomonal antibiotics is now available. A previous study in 1985 has looked at the concomitant administration of inhaled tobramycin and carbenicillin, by reconstituting antibiotics designed for parenteral administration. To our knowledge, this is the first literature to describe the concomitant use of two different antibiotics specifically developed for delivery via the inhaled route.
Estimating the prevalence and risk of COVID-19 among international travelers and evacuees of Wuhan through modeling and case reports
Authors: George Luo, Michael L McHenry, John J Letterio
Journal: PLoS One (2020)
MeSH terms: Coronavirus Infections / epidemiology, Pneumonia, Viral / epidemiology, Travel, Aircraft, Asymptomatic Infections, COVID-19, China, Communicable Disease Control, Coronavirus Infections / transmission, Disease Transmission, Infectious, Humans, Models, Biological, Pandemics, Pneumonia, Viral / transmission, Prevalence

Coronavirus disease 2019 (COVID-19) started in Wuhan, China and has spread through other provinces and countries through infected travelers. On January 23rd, 2020, China issued a quarantine and travel ban on Wuhan because travelers from Wuhan were thought to account for the majority of exported COVID-19 cases to other countries. Additionally, countries evacuated their citizens from Wuhan after institution of the travel ban. Together, these two populations account for the vast majority of the "total cases with travel history to China" as designated by the World Health Organization (WHO). The current study aims to assess the prevalence and risk of COVID-19 among international travelers and evacuees of Wuhan. We first used case reports from Japan, Singapore, and Korea to investigate the date of flights of infected travelers. We then used airline traveler data and the number of infected exported cases to correlate the cases with the number of travelers for multiple countries. Our findings suggest that the risk of COVID-19 infection is highest among Wuhan travelers between January 19th and 22nd, 2020, with an approximate infection rate of up to 1.3% among international travelers. We also observed that evacuee infection rates varied heavily between countries and propose that the timing of the evacuation and COVID-19 testing of asymptomatic evacuees played significant roles in the infection rates among evacuees. These findings suggest COVID-19 cases and infectivity are much higher than previous estimates, including numbers from the WHO and the literature, and that some estimates of the infectivity of COVID-19 may need re-assessment.