OpenMed/multicare-articles huggingface dataset:
Erythema nodosum in a child with celiac disease
Authors: Andrew Fretzayas, Maria Moustaki, Olga Liapi, Polyxeni Nicolaidou
Journal: Case Rep Pediatr (2011)
MeSH terms: Case Reports

Erythema nodosum is an acute, nodular, erythematous eruption usually limited to the extensor aspects of the lower legs. It could be idiopathic or associated with other systemic diseases. We, herein, report a phenotypically healthy, ten-year-old boy who presented with erythema nodosum in whom serological tests of autoimmunity and intestinal histological examination were compatible with celiac disease. The eruption resolved within 2 months following a gluten-free diet. Therefore, the possibility that erythema nodosum represents an extraintestinal manifestation of celiac disease should be kept in mind accordingly in cases where other common causes of this rash are ruled out.
Identification and Characterization of a Germline Mutation in CARD11 From a Chinese Case of B Cell Expansion With NF-κB and T Cell Anergy
Authors: Peiwei Zhao, Qingjie Meng, Yufeng Huang, Lei Zhang, Sukun Luo, Xiankai Zhang, Li Tan, Aifen Zhou, Hao Xiong, Xuelian He
Journal: Front Immunol (2021)
Keywords: benta, card11, nf-κb, gain-of-function, lymphocytosis
MeSH terms: B-Lymphocytes / immunology, CARD Signaling Adaptor Proteins / genetics, Clonal Anergy, Gain of Function Mutation, Germ-Line Mutation, Guanylate Cyclase / genetics, NF-kappa B / metabolism, Primary Immunodeficiency Diseases / genetics, Signal Transduction / genetics, T-Lymphocytes / immunology, Case Reports, Research Support, Non-U.S. Gov't, CARD Signaling Adaptor Proteins / metabolism, China, Exons, Guanylate Cyclase / metabolism, HeLa Cells, Heterozygote, Humans, Infant, Killer Cells, Natural / immunology, Lymphocytosis / genetics, Male, CARD Signaling Adaptor Proteins, NF-kappa B, CARD11 protein, human, Guanylate Cyclase

B cell expansion with NF-κB and T cell anergy (BENTA) is a rare primary immunodeficiency disorder caused by gain-of-function (GOF) mutations in the CARD11 gene. Affected patients present with persistent B cell lymphocytosis in early childhood paired with lymphadenopathy and splenomegaly. Until now only six activating mutations from 14 patients have been reported in CARD11. Here we report a patient from China with polyclonal B cell lymphocytosis and frequent infections in early life. A heterozygous mutation (c.377G>A, G126D) in exon 5 of CARD11 gene (NM_032415) was identified by whole exome sequencing. In vitro functional studies showed that the G126D mutation is associated with increased expression of CARD11 and NF-κB activation in Hela cells. Flow cytometry analysis indicated NK cell activity and CD107a degranulation of the patient were decreased. RNA sequencing analysis showed that a number of genes in NF-κB pathway increased while those involved in NK cell activity and degranulation were down-regulated. In summary, our work identified a de novo germline GOF mutation in CARD11 with functional evidence of BENTA.
A case report of renal papillary necrosis due to tuberculosis-CT urogram and static MR urogram findings
Authors: Denver Steven Pinto, Arun George, Nidhi Kumar, V Ravi Hoisala
Journal: BJR Case Rep (2017)
MeSH terms: Case Reports

The urinary tract is a common site of tuberculosis, which causes significant morbidity in the form of chronic renal disease. T uberculosis is not only common in developing countries but with the spurt in the number of immune-suppressed patients and the increasing incidence of drug -resistant strains, an increase in the number of patients suffering from genitourinary tuberculosis is expected even in developed countries. Genitourinary tuberculosis occurs owing to haematogenous dissemination of tubercular bacilli. Urinary tract tuberculosis can result in complications such as ureteric stricture, chronic pyelonephritis and papillary necrosis, resulting in compromised renal function. This renal compromise makes it prudent to avoid contrast- enhanced studies if other alternatives are available. There is a dearth of-cases of papillary necrosis reported on static MR urogram. The authors report a case of tuberculosis complicated by papillary necrosis on both CT urogram and static MR urogram.
Combined Bone Transportation and Lengthening Techniques for the Treatment of Septic Nonunion of the Forearm Followed by Tendon Transfer
Authors: Konstantinos Ditsios, Eirini Iosifidou, Lazaros Kostretzis, Panagiotis Konstantinou, Iosafat Pinto, Ioannis Theodoroudis, Ippokratis Hatzokos
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

Infected nonunion of a forearm fracture complicated by a considerable skin-muscle defect poses a great challenge to orthopaedic surgeons. The treatment strategy comprises eradication of the infection, ensuring bony union and soft tissue coverage along with functional restoration. We report a case of a 23-year-old man with an open Gustilo-Anderson IIIb fracture complicated by infected nonunion after internal fixation. After thorough surgical debridement, a considerable soft tissue defect, extensor muscle loss, and posterior interosseous nerve laceration had to be addressed. He was finally treated with bone transportation and bone lengthening followed by tendon transfers.
Parainfluenza 3 Respiratory Infection Associated with Pericardial Effusion in a Very Low Birthweight Infant
Authors: Cristina Aranda Cazón, Luis Arruza Gómez, Gloria Herranz Carrillo, Cristina González Menchén, Zarife Daoud Pérez, José Antonio Martínez-Orgado, José Tomás Ramos Amador
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Parainfluenza 3 virus is a frequent cause of respiratory infections in the pediatric population although it is uncommonly diagnosed in neonates, being usually reported as neonatal intensive care unit microepidemics. We report a case of parainfluenza 3 respiratory infection associated with pericardial effusion in a very low birthweight infant.
A case of pancreatic cancer in the setting of autoimmune pancreatitis with nondiagnostic serum markers
Authors: Manju D Chandrasegaram, Su C Chiam, Nam Q Nguyen, Andrew Ruszkiewicz, Adrian Chung, Eu L Neo, John W Chen, Christopher S Worthley, Mark E Brooke-Smith
Journal: Case Rep Surg (2013)

Background. Autoimmune pancreatitis (AIP) often mimics pancreatic cancer. The diagnosis of both conditions is difficult preoperatively let alone when they coexist. Several reports have been published describing pancreatic cancer in the setting of AIP. Case Report. The case of a 53-year-old man who presented with abdominal pain, jaundice, and radiological features of autoimmune pancreatitis, with a "sausage-shaped" pancreas and bulky pancreatic head with portal vein impingement, is presented. He had a normal serum IgG4 and only mildly elevated Ca-19.9. Initial endoscopic ultrasound-(EUS-) guided fine-needle aspiration (FNA) of the pancreas revealed an inflammatory sclerosing process only. A repeat EUS guided biopsy following biliary decompression demonstrated both malignancy and features of autoimmune pancreatitis. At laparotomy, a uniformly hard, bulky pancreas was found with no sonographically definable mass. A total pancreatectomy with portal vein resection and reconstruction was performed. Histology revealed adenosquamous carcinoma of the pancreatic head and autoimmune pancreatitis and squamous metaplasia in the remaining pancreas. Conclusion. This case highlights the diagnostic and management difficulties in a patient with pancreatic cancer in the setting of serum IgG4-negative, Type 2 AIP.
Refractory Clostridium difficile Infection Successfully Treated with Tigecycline, Rifaximin, and Vancomycin
Authors: Dominador Lao 2nd, Tom Chiang, Eric Gomez
Journal: Case Rep Med (2012)

The occurrence of Clostridium difficile colitis is on the rise and has become more difficult to manage with standard therapy. Thus, the need for alternative treatments is essential. Tigecycline is a glycylcycline antibiotic that has been shown to be effective against C. difficile through several published case reports and in in vitro studies. We present a case of C. difficile colitis that failed to respond to metronidazole and oral vancomycin therapy, but improved on a combination of rifaximin, tigecycline, and vancomycin.
Case Report: A Highly Variable Clinical and Immunological Presentation of IKAROS Deficiency in a Single Family
Authors: Taco W Kuijpers, Samantha A M Tromp, Ester M M van Leeuwen, Godelieve J de Bree
Journal: Front Immunol (2022)
Keywords: ikzf1, ikaros, common variable immunodeficiency (cvid), inborn error of immunity (iei), whole exome sequencing (wes)
MeSH terms: Common Variable Immunodeficiency / diagnosis, Common Variable Immunodeficiency / genetics, IgA Deficiency / genetics, Case Reports, Research Support, Non-U.S. Gov't, Female, Humans, Male, Mutation

Here we describe a novel mutation in the IKZF gene encoding IKAROS, as the cause of common variable immunodeficiency (CVID). The identification of the same defect in the IKZF gene with manifestations of asymptomatic selective IgA deficiency and chronic ITP in the father and her younger brother, respectively, demonstrates the large variability of this genetic defect in one single family, while living in the same environment with a relatively similar genetic background. As discussed, clinical penetrance of the molecular defects identified by mutations in IKZF and other common gene defects in CVID in familial immune-related abnormalities makes genetic testing a necessary step for diagnosis, management, and counseling, as part of the routine immunological workup.
Secretory carcinoma of the breast: A case report
Authors: Kamil Pohlodek, Iveta Mečiarová, Petr Grossmann, Petr Martínek, Zdeněk Kinkor
Journal: Int J Surg Case Rep (2019)
Keywords: breast cancer, breast imaging, breast surgery, case report, fluorescence in situ hybridization, immunohistochemistry, sectretory carcinoma

Introduction:
Secretory breast carcinoma (SBC) is a rare breast tumor which accounts for < 0.15% of all breast cancers. It was originally described as a juvenile breast carcinoma, occurring in young children and adolescent women. SBC is associated with a characteristic balanced translocation, t(12;15), that creates aETV6-NTRK3 gene fusion.
Presentation of case:
A 52-year-old Caucasian woman had palpable lump in her right breast. After breast imaging examination (BI-RADS 4b) and preoperative core-needle biopsy with suspicion of SBC a breast conserving therapy was performed. The diagnosis of SBC was confirmed through immunohistochemistry and cytogenetic examination of the tumor. The patient is now 22 months post‑surgery and remains disease‑free.
Discussion:
Recent studies reported that the disease occurs at a later age than previously recognized, and is associated with good long-term survival. In breast imaging it may mimic a benign tumor. Immunohistochemistry and cytogenetic analysis of the tumor are crucial for confirmation of SBC.
Conclusion:
There is no consensus with regard to the best treatment strategy for patients with SBC. Breast conserving therapy with sentinel lymph nodes biopsy is at present the first choice treatment. Further research for a specific NTRK3 tyrosine kinase inhibitor could lead to the discovery of a new targeted treatment of this tumor.
Recurrent villous adenoma with high-grade dysplasia arising in a urethral diverticulum
Authors: Alireza Zarineh, Elena Bulakhtina, Peter R Olson, Jan F Silverman
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Villous adenomas of the urinary tract are an uncommon, well-recognized entity, described in different locations. However, the occurrence of this lesion in the female urethral diverticulum is very unusual. We present the first case of a recurrent villous adenoma with high-grade dysplasia unassociated with adenocarcinoma, arising from a urethral diverticulum. A 75-year-old African-American female presented with urethral prolapse complaining of mild voiding difficulty, stress incontinence, and mild spotting of blood. Histological examination revealed a papillary lesion with finger-like processes lined by pseudostratified columnar epithelium with abundant goblet cells. There were focal areas with stratification to the luminal surface and loss of nuclear polarity and atypical mitoses, interpreted as villous adenoma with high-grade dysplasia. The lesion recurred at one year without evidence of malignant transformation. We also present a brief literature review of urothelial villous adenomas.
Use of 18F-fludeoxyglucose positron emission tomography-CT in the management of breast implant-associated anaplastic large cell lymphoma
Authors: Sapna Ladani, Kalliope Valassiadou, Yvette Griffin, Fiona Miall
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

The prognosis and preferred management of breast implant-associated anaplastic large cell lymphoma is dependent on whether lymphoproliferative cells are confined to within the fibrous capsule, in an effusion or lining the fibrous capsule, or if there is spread beyond the capsule in the form of a mass lesion. We describe a case where 18F-fludeoxyglucose positron emission tomography-CT was used to confirm localized disease and guide management decisions.
Propylthiouracil-induced acute liver failure: role of liver transplantation
Authors: Andres F Carrion, Frank Czul, Leopoldo R Arosemena, Gennaro Selvaggi, Monica T Garcia, Akin Tekin, Andreas G Tzakis, Paul Martin, Ravi K Ghanta
Journal: Int J Endocrinol (2010)
MeSH terms: Case Reports

Propylthiouracil- (PTU-) induced hepatotoxicity is rare but potentially lethal with a spectrum of liver injury ranging from asymptomatic elevation of transaminases to fulminant hepatic failure and death. We describe two cases of acute hepatic failure due to PTU that required liver transplantation. Differences in the clinical presentation, histological characteristics, and posttransplant management are described as well as alternative therapeutic options. Frequent monitoring for PTU-induced hepatic dysfunction is strongly advised because timely discontinuation of this drug and implementation of noninvasive therapeutic interventions may prevent progression to liver failure or even death.
Medical Assistance in Dying (MAiD) for Canadian Prisoners: A Case Series of Barriers to Care in Completed MAiD Deaths
Authors: Peter Driftmier, Jessica Shaw
Journal: Health Equity (2021)
Keywords: assisted dying/suicide, corrections, end of life, medical assistance in dying, prison

Background: As of August 2020, 11 patients who were federally incarcerated in a Canadian prison requested medical assistance in dying (MAiD), and three received it. This case study seeks to understand the process of care as described by physicians involved in each of the cases that resulted in MAiD. Methods: During the summer of 2020, semistructured interviews were conducted with physicians involved in each known Correctional Service of Canada (CSC) MAiD case. Transcripts were summarized to illuminate details of the care process for each patient, highlighting barriers to patient-centered care. Results: Each case took place in a different province. One MAiD provision took place in a prison hospital, and two provisions took place after the incarcerated patients were transferred to external community hospitals. Case summaries highlight the physicians' efforts and challenges in assuring patient-centered care. Discussion: Physician experiences illuminate several barriers to care: CSC bureaucratic processes that forced longer wait times than typical for patients in the general public; challenges related to accessing release before MAiD application; knowledge of patient preference for location of death; concerns of voluntariness and confidentiality that are unique to CSC patients; and ethical considerations surrounding the presence of prison guards, police officers, and shackles at the time of assessment or provision. Reporting by the Office of the Correctional Investigator highlights additional challenges in these cases. Further inquiry is necessary to include the perspectives of prisoners and prison staff, and to consider how the evolution of new MAiD legislation will affect MAiD for prisoners.
Encouraging Emotional Conversations in Children With Complex Communication Needs: An Observational Case Study
Authors: Gabriela A Rangel-Rodríguez, Mar Badia, Sílvia Blanch
Journal: Front Psychol (2021)
Keywords: augmentative and alternative communication, complex communication needs, emotion, emotional education, family, home reading, interactive learning environments, parent–child interaction

Children with complex communication needs (CCN) regularly have barriers to express and discuss emotions, and have fewer opportunities to participate in emotional conversations. The study explores and analyzes the changes after a training program focused on offering an interactive home learning environment that encouraged and modeled emotion-related conversations between a parent and a child with CCN within storybook-reading contexts. An observational design (nomothetic/follow-up/multidimensional) was used to explore and analyze the changes in the communicative interaction around emotions between mother-child. Augmentative and alternative communication (AAC) technologies were used to provide the child access to emotion-related vocabulary. The training program resulted in the mother providing more opportunities to engage her child in emotional conversations, suggesting that when opportunities and resources to talk about emotions were promoted, the child showed more engagement in emotion-related conversations using his AAC system. The mother-child communicative patterns and behavioral relationships observed during the phases are also presented. This case study illustrates the importance of a primary communication partners' role in facilitating emotional conversations, and the promising efficacy of a training program implemented in a storybook interactive learning environment to promote conversations about emotion-related events while encouraging children with CCN to learn, explore, express, and discuss emotions.
Termination of Pregnancy Due to COVID-19 Induced Damage to the Placenta: A Case Report
Authors: Shamsi Zare, Nasrin Sufizadeh, Payman Rezagholi
Journal: Caspian J Intern Med (2022)
Keywords: covid-19, placenta damage, termination of pregnancy
MeSH terms: Case Reports

Background:
The effects of COVID-19 and its connection with pregnant women and infants have received growing attention of neonatal specialists and gynecologists. COVID-19 causes mild upper respiratory infections, leading to severe illness in patients with defective immune systems. In pregnant women with COVID-19 due to the adverse effects of this disease maintaining maternal health and preventing fetal death is essential and vital. The aim of this study is to report an unusual observation of Termination of pregnancy due to COVID-19 induced damage to the placenta.
Case presentation:
A 33-year-old female patient with a gestational age of 33 weeks. The main symptoms and main concerns of the patient were shortness of breath and cough. Following positive PCR test results and CT, the COVID-19 diagnosis was confirmed. Due to the positive OCT and fetal heart failure, it was decided to terminate pregnancy and thus the patient underwent emergency Cesarean section and the infant was born weighing 2700 g and Apgar 10.
Conclusion:
Common manifestations of COVID-19 in pregnant women include fever, cough, and muscle pain. The most common laboratory results are decreased blood lymphocytes and increased blood CRP. Pregnancy and childbirth complications in pregnant women with COVID-19 included elevated preterm delivery, increased Cesarean section rate, and infant mortality. As a result, pregnant women with COVID-19 should immediately have an ultrasound to diagnose placental thrombosis.
Metastatic renal cell carcinoma to the parotid gland in the setting of chronic lymphocytic leukemia
Authors: Robert Deeb, Ziying Zhang, Tamer Ghanem
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Renal cell carcinoma (RCC) is infamous for its unpredictable behavior and metastatic potential. We report a case of a patient with a complex history of multifocal renal cell carcinoma and chronic lymphocytic leukemia (CLL), who subsequently developed a parotid mass. Total parotidectomy revealed this mass to be an additional site of metastasis which had developed 19 years after his initial diagnosis of RCC.
A Rare Case of a Right Atrial Paraganglioma in an Individual with the SHDB Mutation
Authors: Ian Lancaster, Carlos Nunez, Andrew Willinger, Christiano Caldeira, Jeffrey Aufman
Journal: Case Rep Cardiol (2022)
MeSH terms: Case Reports

Paragangliomas are extra-adrenal chromaffin cell tumors. A small percentage of these tumors can be found in the thoracic cavity and, when in the heart, are typically in the left atrium. In this case report, we discuss the case of an individual with a history of several paragangliomas with the SHDB mutation who was found to have two cardiac paragangliomas in the right atrium.
Successful Management of Biliary Ascariasis in a High-Endemic Zone and Low-Resource Setting in Ethiopia
Authors: Yonathan Aliye Asfaw, Girum Tesfaye Asrat, Tesfanew Bekele Uddo, Bethlehem Aliye Asfaw, Ayush Anand, Helen Huang, Eden Demessie Firew, NagaSpurthy Reddy Anugu
Journal: Case Rep Infect Dis (2022)
MeSH terms: Case Reports

Ascariasis lumbricoides is a roundworm that causes one of the most common soil-transmitted helminth infections worldwide. Ascariasis is typically found in the jejunum and transmitted through the intake of Ascaris lumbricoides eggs through food and water. Initially, ascariasis can cause pulmonary symptoms during the first 6-8 weeks of ingestion and can progress to serious complications of intestinal obstruction and hepatobiliary manifestations. Biliary ascariasis is a complication of ascariasis migration from the jejunum to the hepatobiliary tree and can present with a variety of symptoms ranging from biliary colic to more serious features such as acute cholangitis. Though the mortality rate is low, limited resources for management can make it challenging to manage.
Myasthenia Gravis Masquerading as Status Asthmaticus
Authors: Neha Pirwani, Shayna Wrublik, Shashikanth Ambati
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

Myasthenia gravis, an autoimmune disorder of neuromuscular transmission, can lead to varying degrees of weakness and fatigability of the skeletal musculature. Juvenile myasthenia gravis accounts for 10-15% of all cases of myasthenia gravis. The clinical presentation of juvenile myasthenia gravis varies tremendously, which presents itself as a diagnostic challenge for clinicians. We report a case of a 15-year-old female with mild intermittent asthma presenting with shortness of breath. Acute onset of dyspnea is a common chief complaint amongst the pediatric population with a broad differential diagnosis. Our patient was presumptively treated for status asthmaticus and required invasive mechanical ventilation. After extubating, the patient showed persistent ptosis, which led to the eventual work-up of myasthenia gravis. Upon further review, this patient had months of intermittent symptoms including ptosis and fatigue which went previously undiagnosed. This case demonstrates that dyspnea in an asthmatic can occur from nonairway processes and, if missed, may result in overtreatment of asthma or delayed diagnosis of an important neuromuscular process.