OpenMed/multicare-articles huggingface dataset:
Calcium unresponsive hypocalcemic tetany: gitelman syndrome with hypocalcemia
Authors: Madhav Desai, Praveen Kumar Kolla, P L Venkata Pakki Reddy
Journal: Case Rep Med (2013)

Introduction. Gitelman's syndrome (GS) is autosomal recessive renal tubular disorder characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism. It is usually associated with normal serum calcium. We report a patient presented with hypocalcemic tetany, and evaluation showed Gitelman's syndrome with hypocalcemia. Case Report. A 28-year-old woman presented with cramps of the arms, legs, fatigue, and carpal spasms of one week duration. She has history of similar episodes on and off for the past two years. Her blood pressure was 98/66 mmHg. Chvostek's sign and Trousseau's sign were positive. Evaluation showed hypokalemia, hypocalcemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Self-medication, diuretic use, laxative abuse, persistent vomiting, and diarrhoea were ruled out. Urinary prostaglandins and genetic testing could not be done because of nonavailability. To differentiate Gitelman syndrome from Bartter's syndrome (BS), thiazide loading test was done. It showed blunted fractional chloride excretion. GS was confirmed and patient was treated with spironolactone along with magnesium, calcium, and potassium supplementation. Symptomatically, she improved and did not develop episodes of tetany again. Conclusion. In tetany patient along with serum calcium measurement, serum magnesium, serum potassium, and arterial blood gases should be measured. Even though hypocalcemia in Gitelman syndrome is rare, it still can occur.
Stress-Induced Cardiomyopathy Secondary to COVID-19
Authors: Aneesh Bapat, Abhishek Maan, E Kevin Heist
Journal: Case Rep Cardiol (2020)
MeSH terms: Case Reports

A 67-year-old female with prior medical history of HTN and asthma presented with acute-onset dyspnea and nausea for 4 days prior to admission. Upon initial encounter in the emergency room, she was found to have findings of abnormal pulmonary infiltrates and consequent workup revealed COVID-19. During further hospital course, the patient developed abnormal EKG and echocardiographic findings consistent with stress-induced cardiomyopathy.
Proposed strategies to overcome venous occlusion in the implantation of a cardiac implantable electronic device: A case report and literature review
Authors: Yi-Pan Li, Cheng-Han Lee, Ju-Yi Chen
Journal: Front Cardiovasc Med (2022)
Keywords: balloon venoplasty, cardiac implantable electronic device, cardiac synchronization therapy, pacemaker, venous occlusion
MeSH terms: Case Reports

This case report describes a successful balloon venoplasty to overcome a total occlusion from the brachiocephalic vein to the superior vena cava in a patient undergoing cardiac resynchronization therapy. It is crucial for implanting physicians to be familiar with strategies to overcome venous occlusion in lead implantation, especially balloon venoplasty, which is an effective and safe approach.
Rare case of Killian-Pallister syndrome associated with idiopathic short stature detected with fluorescent in situ hybridization on buccal smear
Authors: Elena Sukarova-Angelovska, Mirjana Kocova, Gordana Ilieva, Natalija Angelkova, Elena Kochova
Journal: Mol Cytogenet (2016)
Keywords: buccal smear, fluorescent in situ hybridisation, isolated growth hormone deficiency, killian-pallister syndrome
MeSH terms: Case Reports

Background:
Killian-Pallister syndrome (KPS) is a rare form of chromosomal mosaicism and is defined by the existence of an extra chromosome 12 in some cell lines in one individual. The degree of mosaicism varies among tissues and dictates the clinical presentation of the syndrome. The clinical features of Killian-Pallister syndrome include mental retardation, typical facial dysmorphism and pigmentation defects.
Case presentation:
We present a rare case of Killian-Pallister syndrome with severe form of the disease associated with isolated growth hormone deficiency and low-rate mosaicism on buccal smear. The absence of a marker chromosome 12p in lymphocyte cultures and the low degree of mosaicism lead to frequent misdiagnosis of this condition.
Conclusions:
The selection of tissue sampling is crucial in establishing the diagnosis of Killian-Pallister syndrome. Fluorescent in situ hybridisation on buccal smear remains the golden standard as a screening method if a suspicion of the syndrome exists.
Sexually transmitted infections in Saudi Arabia
Authors: Tariq A Madani
Journal: BMC Infect Dis (2006)
MeSH terms: Sexually Transmitted Diseases / epidemiology, Humans, Incidence, Islam, Saudi Arabia / epidemiology, Sexually Transmitted Diseases / microbiology, Sexually Transmitted Diseases / parasitology, Sexually Transmitted Diseases / virology

Background:
Data on sexually transmitted infections (STIs) in Saudi Arabia (SA) and other Islamic countries are limited. This study describes the results of a five-year surveillance for STIs in SA.
Methods:
This is a case series descriptive study of all confirmed STIs diagnosed in SA from January, 1995 through December, 1999.
Results:
A total of 39049 STIs were reported to the Ministry of Health. Reported STIs included nongonococcal urethritis (14557 infections, 37.3%), trichomoniasis (10967 infections, 28.1%), gonococcal urethritis (5547 infections, 14.2%), syphilis (3385 infections, 8.7%), human immunodeficiency virus (2917 infections, 7.5%), genital warts (1382, 3.5%), genital herpes (216 infections, 0.6%), and chancroid (78 infections, 0.2%). The average annual incidence of STIs per 100,000 population for Saudis and non-Saudis, respectively, was as follows: 14.8 and 7.5 for nongonococcal urethritis, 9.4 and 10.4 for trichomoniasis, 5.2 and 4.2 for gonorrhea, 1.7 and 6.4 for syphilis, 0.6 and 8.0 for HIV, 1.4 and 0.7 for genital warts, 0.1 and 0.4 for genital herpes, and 0.1 and 0.1 for chancroid. The incidence of STIs was somewhat steady over the surveillance period except for nongonococcal urethritis which gradually increased.
Conclusion:
Nongonococcal urethritis, trichomoniasis, and gonococcal urethritis were the most commonly reported STIs in SA. Even though the incidence of STIs in SA is limited, appropriate preventive strategies that conform to the Islamic rules and values are essential and should be of highest priority for policymakers because of the potential of such infections to spread particularly among the youth.
Durable Red Blood Cell Transfusion Independence in a Patient with an MDS/MPN Overlap Syndrome Following Discontinuation of Iron Chelation Therapy
Authors: Harpreet Kochhar, Chantal S Leger, Heather A Leitch
Journal: Case Rep Hematol (2015)

Background. Hematologic improvement (HI) occurs in some patients with acquired anemias and transfusional iron overload receiving iron chelation therapy (ICT) but there is little information on transfusion status after stopping chelation. Case Report. A patient with low IPSS risk RARS-T evolved to myelofibrosis developed a regular red blood cell (RBC) transfusion requirement. There was no response to a six-month course of study medication or to erythropoietin for three months. At 27 months of transfusion dependence, she started deferasirox and within 6 weeks became RBC transfusion independent, with the hemoglobin normalizing by 10 weeks of chelation. After 12 months of chelation, deferasirox was stopped; she remains RBC transfusion independent with a normal hemoglobin 17 months later. We report the patient's course in detail and review the literature on HI with chelation. Discussion. There are reports of transfusion independence with ICT, but that transfusion independence may be sustained long term after stopping chelation deserves emphasis. This observation suggests that reduction of iron overload may have a lasting favorable effect on bone marrow failure in at least some patients with acquired anemias.
Otic langerhans' cell histiocytosis in an adult: a case report and review of the literature
Authors: Anil Gungadeen, Peter Kullar, Philip Yates
Journal: Case Rep Otolaryngol (2013)

Objective. To present a case of otic Langerhans' cell histiocytosis in an adult. Also included the diagnosis and management of the condition and a review of the relevant literature. Case Report. We report a case of a 41-year-old man with a history of persistent unilateral ear discharge associated with an aural polyp. Radiological imaging showed bony lesions of the skull and a soft-tissue mass within the middle ear. Histological analysis of the polyp demonstrated Langerhans' cell histiocytosis. His otological symptoms were completely resolved with the systemic therapy. Conclusions. Otic Langerhans' cell histiocytosis can present in adults. Persistent ear symptoms along with evidence of soft-tissue masses within the ear and bony lesions of the skull or elsewhere should prompt the otolaryngologists to include Langerhans' cell histiocytosis in their differential diagnosis. Management should be with systemic therapy rather than local surgical treatment.
Hawkinsinuria With Direct Hyperbilirubinemia in Egyptian-Lebanese Boy
Authors: Hassan El Khatib, Bilal Asaad, Aisha Zaylaa, Farah Awad, Mariam Sbeity, Sirin Mneimneh, Georges Haber, Zeina Naja, Mariam Rajab
Journal: Front Pediatr (2019)
Keywords: hpd, direct hyperbilirubinemia, hawkinsinuria, heterozygous mutation, tyrosine
MeSH terms: Case Reports

Tyrosinemia type III is the rarest type of tyrosinemia, because of a mutation in 4-OH-phenylpyruvate dioxygenase (HPD). This causes two different types of diseases with different modes of inheritance: tyrosinemia type III and hawkinsinuria. Hawkinsinuria is an autosomal dominant disease, which presents a failure to thrive and metabolic acidosis; however, the liver is not affected. P.A33T heterozygous mutation was reported by Tomoeda et al. to cause hawkinsinuria. This case report will present the first case of an Egyptian-Lebanese male who developed direct hyperbilirubinemia and was found to have tyrosinemia type III, due to elevated tyrosine levels in the blood and tyrosine derivatives in the urine, but genetic testing revealed a P.A33T heterozygous mutation, a cause of hawkinsinuria.
Choroidal granuloma caused by Mycobacterium Fortuitum
Authors: João Pinto da Silva Neto, Kyra Nhayanna Coutinho Machado, Luiz Roisman
Journal: Int J Retina Vitreous (2019)
Keywords: choroidal granuloma, mycobacteria, mycobacteria fortuitum
MeSH terms: Case Reports

Background:
To report a case of a chronic steroid user male patient who developed local abscesses caused by M. fortuitum and concomitant asymptomatic choroidal granuloma.
Case presentation:
A 37-year-old african-american male with history of use of anabolic drugs and intramuscular mineral oil injections in the upper and lower limbs for 15 years for muscular hypertrophy. He developed intramuscular abscesses with systemic infection, sub-retinal lesions in both eyes and alterations in cerebrospinal fluid suggestive of mycobacteria. Considering these findings, empirical treatment for tuberculosis was started, without success. After several negative cultures of the material drained from the abscesses, finally one of the cultures isolated the agent Mycobacterium Fortuitum. Proper treatment for atypical mycobacteria was initiated with clinical and laboratory improvement. After 6 months the sub-retinal lesions regressed.
Conclusions:
A typical choroidal granuloma caused by M. Fortuitum is a rare presentation of the infection and our report showed a good outcome with proper treatment.
Chronically Retained Central Venous Catheter in Deceased Donor Liver Allograft
Authors: Shannon Zielsdorf, Beau Kelly, Yuri Genyk, Juliet Emamaullee
Journal: Case Rep Transplant (2019)
MeSH terms: Case Reports

Central venous catheters (CVC) are commonly used across multiple medical specialties and are inserted for various reasons. A known, but rare, serious complication of CVC is fracture and retention of residual catheter. Here we describe a chronically retained catheter within the inferior vena cava (IVC) that was asymptomatic and neither diagnosed nor addressed until time of deceased donor liver donation. Prior to transplantation into the recipient, the retained catheter was removed, and a venoplasty of the suprahepatic IVC, middle hepatic vein, and left hepatic vein was performed with no significant issues after transplant in the recipient. With the persistent shortage of suitable organs for transplant leading to patients dying on the waiting list, every good quality organ should be carefully considered. Thus, even though a chronically retained, fractured CVC in a deceased organ donor presents a unique challenge, it can be managed surgically and should not be considered a contraindication to organ utilization.
DICER1 syndrome and embryonal rhabdomyosarcoma of the cervix: a case report and literature review
Authors: Alexandre Stambouli, Audrey Cartault, Isabelle Oliver Petit, Solene Evrard, Eliane Mery, Frederique Savagner, Stephanie Trudel
Journal: Front Pediatr (2023)
Keywords: dicer1 syndrome, cervical embryonal rhabdomyosarcoma, genetic testing, surveillance recommendations, thyroid pathologies
MeSH terms: Case Reports

Background:
Embryonal rhabdomyosarcomas (ERMS) of the uterine cervix and corpus are rare pediatric tumors usually associated with a late age of onset and frequent somatic DICER1 mutation. It may also develop in the context of a familial predisposition such as DICER1 syndrome requiring specific medical care for children and young adults at risk for a broad range of tumors.
Case presentation:
This is a case of a prepubescent 9-year-old girl who was presented to our department for metrorrhagias due to a vaginal cervical mass, initially classified as a müllerian endocervical polyp on negative myogenin immunostaining. The patient subsequently manifested growth retardation (-2DS) and learning disabilities leading to genetic explorations and the identification of a germline pathogenic DICER1 variant. The family history revealed thyroid diseases in the father, aunt and paternal grandmother before the age of 20.
Conclusion:
Rare tumors such as cervical ERMS associated with a family history of thyroid disease during infancy could be related to DICER1 syndrome. Identifying at-risk relatives is challenging but necessary to detect early DICER1 spectrum tumors in young patients.
Breast Amyloidosis: A Case Report and Literature Review
Authors: Anne-Sofie De Crem, Koen Van de Vijver, Pieter De Visschere, Rudy Van den Broecke, Menekse Göker
Journal: J Belg Soc Radiol (2022)
Keywords: localized amyloidosis, breast, lupus erythematosus, mammography, microcalcifications

Amyloidosis is an uncommon disorder characterized by extracellular accumulation of misfolded proteins in tissues. We report a unique case of localized breast amyloidosis in an asymptomatic 56-year-old woman with systemic lupus erythematosus, presented as suspicious microcalcifications without mass on mammography. Vacuum biopsy confirmed amyloidosis, producing the typical apple-green birefringence under polarized light after staining with Congo-red. Further workup and follow-up to exclude development into systemic amyloidosis or hematologic malignancy is recommended. If negative, the prognosis is very good, thus no further treatment is needed. A brief review of the literature revealed more about the typical findings and recommended management.
Central Diabetes Insipidus Following Immunization With BNT162b2 mRNA COVID-19 Vaccine: A Case Report
Authors: Bruno Bouça, Marisa Roldão, Paula Bogalho, Luís Cerqueira, José Silva-Nunes
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: covid-19, case report, diabetes insipidus, mrna, vaccine
MeSH terms: COVID-19 / prevention & control, Diabetes Insipidus, Neurogenic / complications, Diabetes Insipidus, Neurogenic / etiology, Diabetes Mellitus, Hypophysitis / complications, Case Reports, Adult, BNT162 Vaccine, COVID-19 Vaccines / adverse effects, Female, Humans, Immunization / adverse effects, RNA, Messenger, COVID-19 Vaccines, RNA, Messenger, BNT162 Vaccine

Introduction:
Cases of central diabetes insipidus (CDI) have been reported after COVID-19 infection, with hypophysitis being the most likely cause. COVID-19 vaccines potential adverse effects may mimetize some of these complications.
Case report:
Woman 37 years old, with rheumatoid arthritis under adalimumab (40 mg twice a month) since December 2018. She was in her usual state of health when she has received the second dose of BNT162b2 mRNA COVID-19 vaccine (June 2021). Seven days later, she started reporting intense thirst and polyuria and consulted her family physician.
Blood analysis:
creatinine 0.7 mg/dL, glucose 95mg/dL, Na+ 141mEq/L, K+ 3.9 mEq/L, TSH 3.8 mcUI/L (0.38-5.33), FT4 0.9 ng/dL (0.6-1.1), cortisol 215.4 nmol/L (185-624), ACTH 21.9 pg/mL (6- 48), FSH 4.76 UI/L, LH5.62 UI/L, estradiol 323 pmol/L, IGF1 74.8 ng/mL (88-209), PRL 24.7mcg/L (3.3-26.7) osmolality 298.2 mOs/Kg (250- 325); Urine analysis: volume 10200 mL/24h, osmolality 75 mOs/Kg (300-900), density 1.002. On water restriction test: 0' - Serum osmolality 308.8mOsm/Kg vs. urine osmolality 61.0 mOsm/Kg; 60' - urine osmolality 102 mOsm/Kg; urine osmolality 1 h after desmopressine was 511mOsm/kg. MRI revealed no abnormal signs consistent with hypophysitis except for the loss of the posterior pituitary bright spot on T1 weighted imaging. Diagnosis of CDI was assumed, and started therapy with desmopressine. A report of potential adverse effect was addressed to national health authorities.
Conclusion:
In hypophysitis MRI often shows loss of posterior pituitary bright spot on T1 weighted imaging, pituitary enlargement or stalk thickening but those findings were not present in this patient. To the best of our knowledge, CDI has never been reported following administration of a COVID-19 vaccine.
An unexpected case of venous and pulmonary thrombo-embolism in a patient treated with thalidomide for refractory erythema nodosum leprosum: a case report
Authors: Riyaaz Ahamed, Wijesiriwardena Bandula, Ratnayake Chamara
Journal: Thromb J (2011)

Recent literature reports an increased incidence of venous thrombosis following thalidomide use in the treatment of diseases with disease-related thrombotic risks such as malignancy, as well as concomitant use with chemotherapy and/or systemic corticosteroids. We report a case of deep vein thrombosis (DVT) and pulmonary embolism (PE) following thalidomide use in a patient with erythema nodosum leprosum (ENL) reaction who was concurrently treated with prednisolone, as well as a review of relevant literature.
A Case of Rheumatoid Arthritis Presenting with Renal Thrombotic Microangiopathy Probably due to a Combination of Chronic Tacrolimus Arteriolopathy and Severe Hypertension
Authors: Fumika Honma, Yoshihide Fujigaki, Yoshikazu Nemoto, Hirotoshi Kikuchi, Michito Nagura, Shigeyuki Arai, Kenichi Ishizawa, Osamu Yamazaki, Yoshifuru Tamura, Fukuo Kondo, Ryuji Ohashi, Shunya Uchida, Shigeru Shibata
Journal: Case Rep Nephrol (2019)
MeSH terms: Case Reports

A 51-year-old woman with rheumatoid arthritis presented with mild hypertension 20 months after tacrolimus treatment and developing proteinuria 24 months after the treatment. Tacrolimus was discontinued 27 months after the treatment, followed by heavy proteinuria, accelerated hypertension, and deteriorating renal function without ocular fundus lesions as a clinical sign of malignant hypertension. Renal biopsy revealed malignant nephrosclerosis characterized by subacute and chronic thrombotic microangiopathy (TMA), involving small arteries, arterioles, and glomeruli. Focal segmental glomerulosclerosis, probably secondary to chronic TMA, was identified as a cause of heavy proteinuria. The zonal tubulointerstitial injury caused by subacute TMA may have mainly contributed to deteriorating renal function. The presence of nodular hyalinosis in arteriolar walls was indicative of tacrolimus-associated nephrotoxicity. Together with other antihypertensive drugs, administration of aliskiren stabilized renal function with reducing proteinuria. Owing to the preexisting proteinuria prior to severe hypertension and the complex renal histopathology, we postulated that chronic TMA, which was initially triggered by tacrolimus, was aggravated by severe hypertension, resulting in overt renal TMA.
Protein Loosing Enteropathy Secondary to Strongyloidiasis: Case Report and Review of the Literature
Authors: Weam El Hajj, Gilbert Nakad, Antoine Abou Rached
Journal: Case Rep Gastrointest Med (2016)

Strongyloidiasis is a helminthic disease which affects millions around the world resulting in a significant burden in certain high risk groups. It is rarely reported in the Lebanese population probably due to the low index of suspicion in common practice. We are reporting a case of strongyloidiasis that was found in an elderly patient presenting initially with dyspnea followed by skin rash, protein loosing enteropathy, diarrhea, and abdominal pain while on corticosteroid therapy. The diagnosis was suspected based on clinical presentation in addition to peripheral eosinophilia. We will also describe the upper and lower endoscopic aspects of the disease, as well as histologic findings on duodenal and colonic biopsies.
Rituximab Induces Complete Remission of Proteinuria in a Patient With Minimal Change Disease and No Detectable B Cells
Authors: Maximilian Webendörfer, Linda Reinhard, Rolf A K Stahl, Thorsten Wiech, Hans-Willi Mittrücker, Sigrid Harendza, Elion Hoxha
Journal: Front Immunol (2021)
Keywords: b cell depletion therapy, cd20+ t cells, minimal change disease, nephrotic syndrome, rituximab
MeSH terms: Immunologic Factors / therapeutic use, Nephrosis, Lipoid / drug therapy, Nephrosis, Lipoid / immunology, Rituximab / therapeutic use, Case Reports, Research Support, Non-U.S. Gov't, Aged, B-Lymphocytes / immunology, Humans, Male, Nephrosis, Lipoid / complications, Proteinuria / etiology, Remission Induction, T-Lymphocytes / immunology, Immunologic Factors, Rituximab

Minimal change disease (MCD) is a common cause of nephrotic syndrome. Treatment with steroids is usually effective, but frequent relapses are therapeutic challenges. The anti-CD20 antibody rituximab has shown promising results for treatment of steroid-sensitive nephrotic syndrome. Since predictive biomarkers for treatment efficacy and the accurate rituximab dosage for effective induction of remission are unknown, measurement of CD19+ B cells in blood is often used as marker of successful B cell depletion and treatment efficacy. A male patient with relapsing MCD was successfully treated with rituximab, but developed relapse of proteinuria 1 year later, although no B cells were detectable in his blood. B and T cell populations in the patient's blood were analyzed before and after treatment with rituximab using FACS analysis. Rituximab binding to B and T cells were measured using Alexa Fluor 647 conjugated rituximab. We identified a population of CD20+ CD19- cells in the patient's blood, which consisted mostly of CD20+ CD3+ T cells. Despite the absence of B cells in the blood, the patient was again treated with rituximab. He developed complete remission of proteinuria and depletion of CD20+ T cells. In a control patient with relapsing MCD initial treatment with rituximab led to depletion of both CD20+ B and T cells. Rituximab induces remission of proteinuria in patients with MCD even if circulating B cells are absent. CD20+ T cells may play a role in the pathogenesis of MCD and might be a promising treatment target in patients with MCD.