OpenMed/multicare-articles huggingface dataset:
Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome
Authors: B Ciacchini, G Di Nardo, M Marin, E Borali, M Caraccia, R Mogni, F Cairello, I Rabbone, G B Ferrero, A Pini Prato, E Felici
Journal: Front Pediatr (2023)
Keywords: cardio-facio-cutaneous syndrome (cfcs), gastroenterology, nutrition, pediatric, surgery
MeSH terms: Case Reports

Background:
cardio-facio-cutaneous syndrome is a rare genetic disorder affecting less than 900 people in the world. It is mainly characterized by craniofacial, dermatologic and cardiac defects, but also gastroenterological symptoms may be present, ranging from feeding difficulties to gastroesophageal reflux and constipation.In this report we describe a case of this syndrome characterized by severe feeding and growth difficulties, with a particular focus on the management of gastroenterological complications.
Case presentation:
the patient was a caucasian male affected by Cardio-Facio-Cutaneous syndrome who presented feeding difficulties already a few hours after birth. These symptoms worsened in the following months and lead to a complete growth arrest and malnutrition. He was first treated with a nasogastric tube placement. Subsequently, a laparoscopic Nissen fundoplication and a laparoscopic Stamm gastrostomy were performed. The child was fed with nocturnal enteral nutrition and diurnal oral and enteral nutrition. Eventually the patient resumed feeding validly and regained adequate growth.
Conclusion:
this paper aims to bring to light a complex rare syndrome that infrequently comes to the attention of the pediatricians and whose diagnosis is not always straightforward. We also highlight the possible complications under a gastroenterologic point of view. Our contribution can be helpful to the pediatrician in the first diagnostic suspect of this syndrome. In particular, it is worth highlighting that -in an infant with Noonan-like features- symptoms like suction or swallowing problems, vomiting and feeding difficulties should orient towards the diagnosis of a Cardio-facio-cutaneous syndrome. It is also important to stress that its related gastroenterological issues may lead to severe growth failure and therefore the role of the gastroenterologist is key to manage supplemental feeding and to establish whether a nasogastric or gastrostomic tube placement is necessary.
Familial glucocorticoid deficiency type 2: a case report
Authors: Leyla Akın, Selim Kurtoğlu, Mustafa Kendirici, Mustafa Ali Akın
Journal: J Clin Res Pediatr Endocrinol (2010)
Keywords: acth unresponsiveness, familial glucocorticoid deficiency, mrap
MeSH terms: Glucocorticoids / metabolism, Metabolism, Inborn Errors / metabolism, Case Reports, Adrenocorticotropic Hormone / blood, Gene Deletion, Humans, Hypoglycemia / complications, Hypoglycemia / etiology, Infant, Male, Membrane Proteins / genetics, Metabolism, Inborn Errors / blood, Metabolism, Inborn Errors / genetics, Polymerase Chain Reaction, Seizures / complications, Turkey, Glucocorticoids, MRAP protein, human, Membrane Proteins, Adrenocorticotropic Hormone

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease resulting from resistance to the action of adrenocorticotropic hormone (ACTH) on the adrenal cortex, which leads to isolated glucocorticoid deficiency with normal mineralocorticoid secretion. It may present in infancy or early childhood with hyperpigmentation, failure to thrive, recurrent infections, hypoglycemic attacks and convulsions that may result in coma or death. Laboratory investigations reveal low cortisol and androgen levels with high ACTH associated with normal reninaldosterone axis. The disorder may be caused by mutations in the gene of ACTH receptor (MC2R), or mutations in the newly described melanocortin- 2 receptor accessory protein (MRAP) namely, FGD type 1 and FGD type 2, respectively. Twenty five percent of FGD cases are due to the mutations of the ACTH receptor, while FGD type 2 accounts for approximately 15-20% of FGD cases. Here, we report a six-month-old male infant, who presented with recurrent hypoglycemic convulsions. Serum hormone analysis showed low cortisol and androgen levels associated with a high ACTH concentration. No mutation was found in the NR0B1 and MC2R genes excluding congenital adrenal hypoplasia and FGD type 1. We found a homozygous deletion (c. 106+1delG) in intron 3 of MRAP gene. To our knowledge, this is the first Turkish patient reported with FGD type 2 due to a known MRAP mutation.
Peripheral primitive neuroectodermal tumor of the kidney in a 51-year-old female following breast cancer: A case report and review of the literature
Authors: Jinjing Zhong, Ni Chen, Xueqin Chen, Jing Gong, Ling Nie, Miao Xu, Qiao Zhou
Journal: Oncol Lett (2015)
Keywords: ewing sarcoma breakpoint region 1, adjuvant therapy, breast adenocarcinoma, fluorescent in situ hybridization, immunohistochemistry, renal peripheral primitive neuroectodermal tumor

Peripheral primitive neuroectodermal tumor/Ewing's sarcoma (pPNET/EWS) is an aggressive type of sarcoma that is rarely observed in the kidney. pPNET of the kidney principally occurs in young patients (<50 years old) and is very rare in older patients (≥50 years old). Additionally, only six cases of pPNET of the kidney have been reported in the literature in older patients (≥50 years old), and pPNET as a secondary primary tumor has rarely been reported. The current study presents a case of renal pPNET in a 51-year-old female who had been surgically treated for breast carcinoma and administered with adjuvant chemotherapy five years prior to hospitalization for pPNET. A computed tomography scan identified a tumor in the lower pole of the right kidney, which was treated by nephrectomy. Immunohistochemistry demonstrated diffuse, strong membranous positivity for cluster of differentiation (CD)99, positive nuclear staining for friend leukemia integration 1, and negative staining for Wilms' tumor 1 and other markers. Fluorescence in situ hybridization (FISH) analysis of the EWS breakpoint region 1 (EWSR1) demonstrated the characteristic EWSR1 translocation. The patient declined chemotherapy or radiotherapy but accepted traditional Chinese medicine. No evidence of recurrence was observed eight months after diagnosis. Only two cases of renal pPNET with a history of an earlier or synchronous primary cancer were reported in the literature from the USA and Germany, respectively. To the best of our knowledge, the present case is the first FISH-confirmed renal pPNET in an older patient following breast adenocarcinoma.
Hoarding Disorder: A Case Report
Authors: Daniela Vilaverde, Jorge Gonçalves, Pedro Morgado
Journal: Front Psychiatry (2017)
Keywords: antipsychotics, clinical case study, hoarding disorder, obsessive–compulsive disorders, psychotherapy

Hoarding disorder is characterized by a persistent difficulty discarding items, the desire to save items to avoid negative feelings associated with discarding them, significant accumulation of possessions that clutter active living areas and significant distress or impairment in areas of functioning. We present a case of a 52-year-old married man who was referred to the psychiatry department for collecting various objects that were deposited unorganized in the patient's house. He reported to get anxious when someone else discarded some of these items. This behavior had started about 20 years earlier and it worsened with time. The garage, attic, and surroundings of his house were cluttered with these objects. On admission, in the mental status examination, it was observed that the patient was vigil, calm, and oriented; his mood was depressed; his speech was organized, logic, and coherent; and there were no psychotic symptoms. A psychotherapeutic plan was designed for the patient, including psychoeducation, cognitive restructuring, and exposure to discarding objects. A pharmacological treatment with fluvoxamine 100 mg tid and quetiapine 200 mg was added to the therapeutic plan, with the progressive improvement of the symptoms. Nine months later, the patient was able to sell/recycle most of the items. Studies evaluating treatment for HD are necessary to improve the quality of life of the patients and to reduce the hazards associated with the disorder.
Hypersensitivity reactions to high osmolality Total Parenteral Nutrition: a case report
Authors: Steph A Pang, Shaun Eintracht, Jesse M Schwartz, Belinda Lobo, Elizabeth MacNamara
Journal: Allergy Asthma Clin Immunol (2019)
Keywords: hypersensitivity reactions, osmolality, total parenteral nutrition, urticaria
MeSH terms: Case Reports

Background:
The full range of allergic reactions to Total Parenteral Nutrition (TPN) remains unknown. Additionally, beyond individual allergens, there may be other factors contributing to TPN hypersensitivity reactions.
Case presentation:
We present a case of a patient with negative skin testing to common TPN allergens who had recurrent urticarial reactions to TPN. Her skin reactions resolved once TPN was stopped. Following a literature review, we postulated that the reactions could be due to the high osmolality of her TPN. Consequently, lowering her TPN from 2785 to 1928 mOsm/kg and premedicating with cetirizine resulted in resolution of her urticaria.
Conclusions:
When looking at patients who have hypersensitivity reactions to TPN, one must consider that their reactions may be due to factors other than allergens. More studies are needed to clarify the relationship between high osmolality TPN infusions and non-IgE mediated hypersensitivity reactions.
Oxaliplatin Induced Digital Ischemia and Necrosis
Authors: Kubilay Karabacak, Murat Kadan, Erkan Kaya, Baris Durgun, Gokhan Arslan, Suat Doganci, Cengiz Bolcal, Ufuk Demirkilic
Journal: Case Rep Vasc Med (2015)

Introduction. Digital ischemia is a rare complication of several chemotherapeutic medications. We aimed to present a patient with digital ischemia, secondary to a new generation chemotherapeutic drug, oxaliplatin. Case Report. 62-year-old woman presented to our department with severe pain, paresthesia, and distal acrocyanosis on her right hand fingertips. Her complaints started five days after the third cycle of a chemotherapy protocol consisting of 5-fluorourasil (5-FU), folinic acid, and oxaliplatin due to advanced colon carcinoma. On physical examination, hemorrhagic and partly ulcerative lesions were detected at her right hand fingertips. Radial and ulnar pulses were absent at affected side. Digital subtraction angiography revealed severe vascular resistance in the affected extremity. Iloprost trometamol treatment was started with the dosage of 1 ng/kg/min. In addition, low-molecule-weight heparin was used for preventing possible microemboli. Symptomatic relief was provided after five days, and patient was discharged on 7th day of treatment. Discussion. The pathogenesis of oxaliplatin induced vascular toxicity remains unclear. Endothelial damage, increased adherence of platelets, deposition of immune complexes as an immunologic effect of oxaliplatin, and hypercoagulable state may be the reason for arterial thrombosis, digital microemboli, possible digital ischemia, and their several consequences.
A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by AP2S1 mutation
Authors: Felix Chi Kin Wong, Wai Sheung Wong, Jeffrey Sung Shing Kwok, Teresa Kam Chi Tsui, Kam Piu Lau, Michael Ho Ming Chan, Yuet Ping Yuen
Journal: F1000Res (2019)
Keywords: ap2s1, familial hypocalciuric hypercalcaemia type iii, hong kong chinese
MeSH terms: Adaptor Protein Complex 2 / genetics, Adaptor Protein Complex sigma Subunits / genetics, Hypercalcemia / congenital, Case Reports, Research Support, Non-U.S. Gov't, Acute Disease, Aged, Female, Hong Kong, Humans, Hypercalcemia / genetics, Male, Middle Aged, Mutation, AP2S1 protein, human, Adaptor Protein Complex 2, Adaptor Protein Complex sigma Subunits, Hypocalciuric hypercalcemia, familial, type 1

Familial hypocalciuric hypercalcaemia (FHH) is a genetic disorder of altered calcium homeostasis. Mutations in the CASR, GNA11 and AP2S1 genes have been reported to cause FHH. We report a Hong Kong Chinese kindred with FHH type 3 (FHH3) caused by mutations in AP2S1. The proband, a 51-year-old woman with hypercalcaemia, was initially diagnosed to have primary hyperparathyroidism but repeated parathyroidectomy failed to normalize her plasma calcium concentrations. Later, FHH was suspected and yet no mutations were identified in the CASR gene which causes FHH type 1 (FHH1), the most common form of FHH. Genetic testing of AP2S1 revealed a heterozygous c.43C>T (p.Arg15Cys) mutation, confirming the diagnosis of FHH3. The elder brother and niece of the proband, who both have hypercalcaemia, were found to harbour the same mutation. To our knowledge, this is the first Chinese kindred of FHH3 reported in the English literature.
Two Novel Variants in Genes of Arrhythmogenic Right Ventricular Cardiomyopathy - a Case Report
Authors: Dovilė Gabartaitė, Dovilė Jančauskaitė, Violeta Mikštienė, Eglė Preikšaitienė, Rimvydas Norvilas, Nomeda Valevičienė, Germanas Marinskis, Audrius Aidietis, Jūratė Barysienė
Journal: Acta Med Litu (2021)
Keywords: arrhythmogenic right ventricular cardiomyopathy, desmosomal mutations, ventricular arrhythmias
MeSH terms: Case Reports

Summary background:
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable cardiomyopathy, characterized by fibrofatty replacement of myocytes in the right ventricular, left ventricular or both ventricles. It is caused by pathogenic variants of genes encoding desmosomal (JUP, DSP, PKP2, DSG2, DSC2) and non-desmosomal proteins, and is one of the most common causes of sudden cardiac death in young athletes. Therefore, early identification, correct prevention and treatment can prevent adverse outcomes.
Case report:
Our case presents a 65-years-old man with recurrent ventricular tachycardia. The ischemic cause was the first to rule out. Echocardiography revealed right ventricular structural and functional abnormalities. After suspicion of ARVC, magnetic resonance imaging was performed showing reduced right ventricular ejection fraction with local aneurysms, structural changes ir the right and left myocardium. Subsequently performed genetic testing identified a novel ARVC likely pathogenic variant in DSC2 gene and variant of uncertain significance in RYR2 gene.
Conclusions:
Diagnostic evaluation of ARVC is challenging and requires multidisciplinary team collaboration. Further functional tests for elucidation of the clinical significance of the two novel variants of ARVC-associated genes could be suggested.
Control of foot-and-mouth disease in a closed society: A case study of Soviet Estonia
Authors: Marko Kass, Arvo Viltrop, Julia Prakofjewa, Renata Sõukand, Raivo Kalle
Journal: Front Vet Sci (2022)
Keywords: soviet union veterinary system, collective farms, distortion of the truth, foot-and-mouth disease, veterinary treatment of cattle

Foot-and-mouth disease (FMD) is a dangerous infectious disease of even-toed ungulates, however since 1991, the European Union has banned preventive vaccination. During the occupation of the USSR, there were two outbreaks in Estonia: the first started in 1952 (at which time the barns typically housed about 20 cows); and the second began in 1982 (a period when barns typically housed several 100 animals). Neither outbreak was reported to the international community. At that time, it was also forbidden to talk about the disease in the internal media, and speakers could be punished. This study sought to find answers as to how the disease was treated and eliminated in the Estonian SSR, how infected animals and milk were handled, and if some of the methods used can be applied today. Written archival sources and 29 interviews with specialists remembering the outbreaks were used. Preventive slaughter of animals in the USSR was prohibited during the outbreak. As a preventive measure vaccination was used, traveling out of their counties by people were restricted and disinfection mats were used on the roads. In sick animals, udder wounds were treated with various wound ointments, such as zinc ointment, but also ointment made from boiled spruce resin. Birch tar was also recommended in the literature for leg treatments. Mouth wounds were washed with potassium permanganate solution. Workers used rubber gloves when handling sick animals. The barns were disinfected with lime and ash water. The milk from the diseased cows was pasteurized and given to calves, pigs, or diseased animals. Animals that did not recover were transferred to a meat processing plant. The meat was kept in potassium permanganate solution before processing and canned or made into sausages. When the disease was discovered, farm workers were locked in barns and released only when the disease had been eliminated. Such inhumane treatment could only be practiced in a totalitarian society.
Successful Strategy for the Conservative Management of Acquired Tracheoesophageal Fistula Due to Lithium Button Battery Ingestion
Authors: Soichi Shibuya, Takahiro Azuma, Geoffrey J Lane, Manabu Okawada, Atsuyuki Yamataka
Journal: European J Pediatr Surg Rep (2020)
Keywords: conservative treatment, foreign body ingestions, lithium button battery, mediastinitis, tracheoesophageal fistula
MeSH terms: Case Reports

A 16-month-old boy was referred to our hospital for the management of suspected lithium button battery (LBB) ingestion. He had been previously well, but became febrile with a persistent cough resistant to oral antibiotics and dysphagia for 5 days. Radiography identified an LBB lodged in the upper esophagus. The LBB was retrieved under direct visualization with rigid laryngoscopy. He was sedated for 5 days and enteral feeding was commenced through a nasojejunal tube on the next day after procedure. On day 8 after retrieval, endoscopy and fluoroscopy identified a tracheoesophageal fistula (TEF), 6 mm in diameter. Conservative management was conducted with periodic follow-up endoscopies, which showed signs of healing in the esophagus. Following continuous antibiotics and proactive nutritional support, the TEF was found to have closed spontaneously by day 28 after the LBB removal. We present our experience of the successful nonsurgical management of acquired TEF secondary to LBB ingestion and aim to establish a protocol for managing it conservatively by reviewing the relevant literature.
Case Report: Subfertility and Pregnancy Loss due to Genital Tuberculosis
Authors: Y Stroeken, K Broekhuijsen, E Leyten, W Hermes
Journal: SN Compr Clin Med (2023)
Keywords: female genital tuberculosis, multi-drug resistant tuberculosis, pregnancy loss, subfertility issues, transplacental exposure
MeSH terms: Case Reports

Tuberculosis (TB) is a disease that primarily affects low and middle income countries (LMICs) but is becoming more relevant in Western countries due to increasing migration from high TB burden countries. It is especially difficult to detect in women with fertility issues as it mimics other more common causes. Delayed diagnosis of TB can result in fallopian tube and endometrial pathology leading to subfertility and pregnancy loss. This case report describes a 34-year-old woman from Ivory Coast who was diagnosed with intrauterine tuberculosis after hysteroscopic evacuation of suspected retained placental tissue following an immature delivery. The patient had a complicated fertility history, including pelvic inflammatory disease and IVF/ICSI procedures, before becoming pregnant at the age of 38. She delivered prematurely at 22 weeks with a retained placenta. A diagnosis of TB was confirmed after pathology revealed granulomatous inflammation, without signs of placental tissue, and further testing confirmed rifampicin-resistant TB. The patient underwent a 15-month course of multi-drug-resistant TB treatment, which postponed her pregnancy wish. The case highlights the challenge of diagnosing genital TB in the female genital tract during subfertility investigations and after a complicated pregnancy in a woman without a history of or symptoms of TB. It underscores the importance of considering TB in the differential diagnosis of subfertility. Screening should be considered in women originating from high endemic countries with unexplained fertility loss and during first trimester screening.
Drug-Induced Rhabdomyolysis with Elevated Cardiac Troponin T
Authors: Gro Egholm, Manan Pareek
Journal: Case Rep Med (2015)

The essential role of cardiac troponin in the diagnosis of acute myocardial infarction has led to the development of high-sensitivity assays, which are able to detect very small amounts of myocardial necrosis. The high-sensitivity cardiac troponin T assay, however, is not entirely specific for myocardial injury. This case report describes a 48-year-old woman, who, two years after cardiac transplantation, presented with rhabdomyolysis. During the course of the disease, her troponin T level was elevated on repeated occasions, but other definitive evidence of myocardial injury was not found. Asymptomatic cardiac troponin T elevations during rhabdomyolysis may be due to either cardiac involvement or false positive results stemming from skeletal muscle injury.
Elevated troponin and jarisch-herxheimer reaction in tick-borne relapsing Fever: a case report
Authors: Kenneth A Hoekstra, Michael T Kelly
Journal: Case Rep Infect Dis (2011)
MeSH terms: Case Reports

We describe a patient with fever and borreliosis in the Northwestern Washington State, USA. The patient exhibited a classic Jarisch-Herxheimer reaction of tachycardia, hypotension, and thrombocytopenia following antimicrobial therapy, and she also developed an elevated serum cardiac troponin during therapy.
Penile metastasis from primary transitional cell carcinoma of the renal pelvis: first manifestation of systemic spread
Authors: Giorgio Pomara, Ilaria Pastina, Maurizio Simone, Paolo Casale, Gabriella Marchetti, Francesco Francesca
Journal: BMC Cancer (2004)
MeSH terms: Carcinoma, Transitional Cell / secondary, Kidney Pelvis / pathology, Pelvic Neoplasms / pathology, Penile Neoplasms / secondary, Case Reports, Aged, Humans, Male

Background:
Almost one-third of all penile metastases are detected at the same time as a primary tumor, whereas the remaining two-thirds are detected a mean of 18 months after the discovery of the primary tumor. Cutaneous metastasis of transitional cell carcinoma (TCC) is extremely rare and generally accepted as the late manifestation of a systemic spread.
Case presentation:
We report the first case of simultaneous penile and lung metastases from a primary TCC of the renal pelvis in a 76-year-old man, that occurred 8 years after a left nephroureterectomy.
Conclusions:
This case report underscores the importance of physical examinations of the skin of patients who undergo surgical procedures for TCC from bladder as well as from the upper urinary tract, including those seemingly without metastatic disease, because of the possibility of skin and penile metastatic spread.
A Case of Vaccine-Induced Thrombocytopenic Thrombosis Manifesting as Cerebral Venous Thrombosis and Intracerebral Bleed
Authors: Shannay E Bellamy, Brian A Loor
Journal: Cureus (2023)
Keywords: anti-platelet factor 4 (apf-4) antibodies, cerebral venous sinus thrombosis, covid19, vaccination, vaccine-induced thrombotic thrombocytopenia
MeSH terms: Case Reports

Vaccine-induced immune thrombotic thrombocytopenia (VITT) is a rare but detrimental syndrome that has been most commonly reported after the administration of vaccination for the prevention of viral infections. VITT often presents with thrombosis at unusual sites such as cerebral venous sinuses, portal, splanchnic or hepatic veins, in association with thrombocytopenia and elevated anti-platelet factor 4 (aPF-4) antibodies. We describe the case of a young male patient who developed thrombocytopenia, cerebral sinus venous thrombosis, and intracerebral bleed 12 days after receiving the Ad26.COV2.S (Janssen/Johnson&Johnson) COVID-19 vaccine.