OpenMed/multicare-articles huggingface dataset:
A diagnostic approach for differentiating abdominal tuberculosis from ovarian malignancy: a case series and literature review
Authors: Moh Nailul Fahmi, Annisaa Pelita Harti
Journal: BMC Proc (2019)
Keywords: abdominal tuberculosis, diagnosis, laparotomy, ovarian mass
MeSH terms: Case Reports

Background:
Abdominal tuberculosis is an uncommon variant of extrapulmonary tuberculosis. It accounts for 3.5% of extrapulmonary tuberculosis. Diagnosis of abdominal tuberculosis is still a challenge due to its non-specific symptoms. Abdominal tuberculosis and ovarian cancer may show similar symptoms, laboratory and imaging features. The goal of our report is to emphasize for the need of a diagnostic approach based on clinical manifestations, laboratory, imaging findings, and additional tests for considering a diagnosis of abdominal tuberculosis rather than ovarian cancer.
Case presentation:
We report 3 cases of abdominal tuberculosis in our Onco-gynaecology Division, Department of Obstetrics and Gynaecology, Sardjito Hospital, Yogyakarta, Indonesia in 2018 which were previously diagnosed as ovarian malignancy and managed surgically. All of our patients experienced abdominal pain and enlargement but only two of them had significant weight loss. The general symptoms were typically found in onco-gynaecology patients, especially in those with ovarian malignancy. Ultrasound examination showed multilocular masses, 2 of them with solid parts and ascites. Cancer antigen 125 (CA-125) levels were found increasing in those three patients. All of them were treated surgically and diagnosis of abdominal tuberculosis was established through the histopathological result of tissue biopsy. Based on our cases and literature, we consider the need of a diagnostic approach to differentiate abdominal tuberculosis from ovarian malignancy, an attempt to avoid unnecessary invasive procedures that put burden risk for the patients.
Conclusion:
Minimally invasive tests to establish the diagnosis of abdominal tuberculosis should be optimized to reduce the burden risk of laparotomy. Careful diagnostic steps should be followed to avoid wrong diagnosis.
Nijmegen breakage syndrome: case report and review of literature
Authors: Brahim El Hasbaoui, Abdelhkim Elyajouri, Rachid Abilkassem, Aomar Agadr
Journal: Pan Afr Med J (2020)
Keywords: nijmegen breakage syndrome, chromosome instability, immunodeficiency, lymphoma
MeSH terms: Common Variable Immunodeficiency / etiology, Lymphoma, Non-Hodgkin / etiology, Nijmegen Breakage Syndrome / diagnosis, Case Reports, Review, Cell Cycle Proteins / genetics, Child, Female, Humans, Nijmegen Breakage Syndrome / complications, Nijmegen Breakage Syndrome / genetics, Nuclear Proteins / genetics, Cell Cycle Proteins, NBN protein, human, Nuclear Proteins

Nijmegen Breakage Syndrome (NBS) is a rare autosomalrecessive DNA repair disorder characterized by genomic instability andincreased risk of haematopoietic malignancies observed in morethan 40% of the patients by the time they are 20 years old. The underlying gene, NBS1, is located on human chromosome 8q21 and codes for a protein product termed nibrin, Nbs1 or p95. Over 90% of patients are homozygous for a founder mutation: a deletion of five base pairs which leads to a frame shift and protein truncation. Nibrin (NBN) plays an important role in the DNA damage response (DDR) and DNA repair. DDR is a crucial signalling pathway in apoptosis and senescence. Cardinal symptoms of Nijmegen breakage syndrome are characteristic: microcephaly, present at birth and progressive with age, dysmorphic facial features, mild growth retardation, mild-to-moderate intellectual disability, and, in females, hypergonadotropic hypogonadism. Combined cellular and humoral immunodeficiency with recurrent sino-pulmonary infections, a strong predisposition to develop malignancies (predominantly of lymphoid origin) and radiosensitivity are other integral manifestations of the syndrome. The diagnosis of NBS is initially based on clinical manifestations and is confirmed by genetic analysis. Prenatal molecular genetic diagnosis is possible if disease-causing mutations in both alleles of the NBN gene are known. No specific therapy is available for NBS; however, hematopoietic stem cell transplantation may be one option for some patients. Prognosis is generally poor due to the extremely high rate of malignancies. We present here a case of Nijmegen breakage syndrome associated with Hodgkin lymphomas and Combined variable immunodeficiency.
Silver-Russell syndrome: clinical, neurodevelopmental and communication characteristics: clinical case studies
Authors: Eduarda Hanna Porto Ribeiro, Michele Dias Hayssi Haduo, Camila da Costa Ribeiro, Dionísia Aparecida Cusin Lamônica
Journal: Codas (2021)
MeSH terms: Silver-Russell Syndrome / diagnosis, Silver-Russell Syndrome / genetics, Case Reports, Communication, Humans, Language, Male, Social Skills

Silver Russell Syndrome (SRS) is a genetically heterogeneous condition with a clinical phenotype that includes intrauterine and postnatal growth restriction, craniofacial alterations, body asymmetries, low body mass index, and feeding difficulties. Alterations in motor development, global coordination, and speech are expected. The current study aims to present the syndrome, neurodevelopment, and communication characteristics of three male children diagnosed with the syndrome, aged 16, 18, and 44 months, respectively. Ethical principles were followed. An analysis of the medical records, aiming to collect information of the anamnesis, conducted with the guardians, and of the assessment carried out with the children was performed. The assessment was performed by applying the following instruments: Communicative Behavior Observation (CBO), Development Screening Test Denver-II (TSDD-II), and the Early Language Milestone Scale (ELMS). The survey of characteristics confirmed the SRS hypothesis; it was verified a delay in communicative behavior for all participants in CBO; in TSDD-II there was a delay in gross motor, fine motor-adaptive, language, and social personal skills. Scores below expectations were found for receptive auditory and expressive auditory functions, with receptive abilities more developed than expressive abilities, in ELM. The SRS deserves to be recognized by the scientific community, since the phenotypic characteristics and the data from the previous life allow the hypothesis of the syndrome to be raised, aiming at an early correct diagnosis and therapeutic planning that minimizes the harmful effects of this condition.
Pulmonary Embolism and Intracardiac Type A Thrombus with an Unexpected Outcome
Authors: João Português, Lucy Calvo, Margarida Oliveira, Vítor Hugo Pereira, Joana Guardado, Mário Rui Lourenço, Olga Azevedo, Francisco Ferreira, Filipa Canário-Almeida, António Lourenço
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Detection of right heart thrombi (RHT) in the context of pulmonary thromboembolism (PE) is uncommon (4-18%) and increases the risk of mortality beyond the presence of PE alone. Type A thrombi are serpiginous and highly mobile and are thought to be originated from large veins and captured in-transit within the right heart. Optimal management of RHT is still uncertain. A 79-year-old woman, with a history of recent total hysterectomy with adnexectomy and a Wells procedure, presented to the emergency department following an episode of syncope. Computed tomography revealed bilateral PE and the presence of a right atrial thrombus. Transthoracic echocardiography demonstrated a free-floating type A thrombus in the right atrium, protruding into the right ventricle, and signs of pulmonary hypertension and right ventricle dysfunction. Considering the recent surgery and clinical stability, treatment with heparin alone was decided. Subsequent clinical improvement was observed and echocardiographic follow-up revealed complete thrombus dissolution and complete recovery of right ventricle function. Most authors recommend treatment of PE with RHT with thrombolysis or embolectomy followed by anticoagulation, although evidence is scarce. Individual risk of hemorrhage and operatory-related mortality should be taken into account when defining the treatment strategy especially when benefit is not firmly established.
Nontraumatic Anterior Thigh Pain in a NCAA Lacrosse Athlete: A Case Report and Description of a Rectus Femoris Degloving Injury
Authors: Paul A Krebs, James R Borchers, Patrick Brayfield
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

A 21-year-old female lacrosse player complained of anterior thigh pain with no known mechanism of injury and failed to improve with conservative therapy. An MRI was obtained showing a closed degloving injury of the rectus femoris, an injury only previously reported in a small case series of soccer players. After a brief period of rest, she was progressed conservatively through therapy and did well, with progression back to the level of competition at 56 days. This case highlights a rare injury not previously described in sports outside of soccer and is the first case described in a female athlete. In addition, the discussion of this case focuses on the unique anatomy of the rectus femoris.
Smooth Muscle Tumor Originating in the Pleura: A Case Report and Updated Literature Review
Authors: Santiago Fabián Moscoso Martínez, Vadim Zarubin, Geethapriya Rajasekaran Rathnakumar, Alireza Zarineh
Journal: Case Rep Oncol Med (2016)

Smooth muscle tumors (SMTs) of the pleura are exceptionally rare. At present and to the best of these authors' knowledge, there are only 17 cases reported in the literature. We describe a case of a 51-year-old woman who complained of left sided pleuritic chest pain. Further, computed tomography (CT) revealed a left sided localized pleural-based mass involving the 9th rib. She underwent an interventional radiology guided percutaneous core biopsy of the lesion, which disclosed a "Smooth Muscle Tumor of Undetermined Malignant Potential (SMT-UMP)." A video-assisted thoracoscopic surgery (VATS) was performed for diagnosis and treatment purposes. Resections of the pleural-based mass and 9th rib were performed. SMT-UMP was the definitive diagnosis.
Case report: Neuronal intranuclear inclusion disease presenting with acute encephalopathy
Authors: Julia Ting Bu, Dolores Torres, Adam Robinson, Corey Malone, Juan Carlos Vera, Shadi Daghighi, Anastasie Dunn-Pirio, Suzan Khoromi, Justin Nowell, Gabriel C Léger, Joseph D Ciacci, Vanessa S Goodwill, Melanie Estrella, David G Coughlin, Yueyang Guo, Nikdokht Farid
Journal: Front Neurol (2023)
Keywords: arterial spin labeling, case report, chromatolysis, magnetic resonance imaging, neuronal intranuclear inclusion disease
MeSH terms: Case Reports

Neuronal intranuclear inclusion disease (NIID), a neurodegenerative disease previously thought to be rare, is increasingly recognized despite heterogeneous clinical presentations. NIID is pathologically characterized by ubiquitin and p-62 positive intranuclear eosinophilic inclusions that affect multiple organ systems, including the brain, skin, and other tissues. Although the diagnosis of NIID is challenging due to phenotypic heterogeneity, a greater understanding of the clinical and imaging presentations can improve accurate and early diagnosis. Here, we present three cases of pathologically proven adult-onset NIID, all presenting with episodes of acute encephalopathy with protracted workups and lengthy time between symptom onset and diagnosis. Case 1 highlights challenges in the diagnosis of NIID when MRI does not reveal classic abnormalities and provides a striking example of hyperperfusion in the setting of acute encephalopathy, as well as unique pathology with neuronal central chromatolysis, which has not been previously described. Case 2 highlights the progression of MRI findings associated with multiple NIID-related encephalopathic episodes over an extended time period, as well as the utility of skin biopsy for antemortem diagnosis.
Pulmonary lobar torsion: a rare complication following pulmonary resection, but one not to miss
Authors: Lucy Childs, Steve Ellis, Olivia Francies
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Lobar torsion is an uncommon phenomenon but a crucial diagnosis to consider in any patient undergoing lobectomy, as the clinical findings and radiographic appearances are non-specific. This case report documents the clinical and radiological evolution of middle lobe torsion in a patient who underwent right upper lobectomy for Stage 1 adenocarcinoma of the lung. The diagnosis of lobar torsion is most often made on CT scanning of the chest, which is frequently performed in order to distinguish this from multiple other more frequently encountered post-operative complications. Contrast-enhanced CT scan is the recommended imaging modality in suspected cases. If features of lobar torsion are identified, the findings must be communicated immediately to cardiothoracic surgeons owing to the potentially life-threatening consequences of delay. Management of lobar torsion is predominantly surgical, with several techniques currently in use; however, video-assisted thoracoscopic surgery is emerging as an increasingly favoured approach.
Case Report: SARS-CoV-2 Infection-Are We Redeemed? A Report of Candida Spondylodiscitis as a Late Complication
Authors: Luis Miguel Moreno-Gómez, Olga Esteban-Sinovas, Daniel García-Pérez, Guillermo García-Posadas, Juan Delgado-Fernández, Igor Paredes
Journal: Front Med (Lausanne) (2021)
Keywords: covid-19, antifungal therapy, candida, corpectomy, spondylodiscitis
MeSH terms: Case Reports

Background: We describe a case of candida spondylodiscitis secondary to coronavirus disease (COVID-19). Case report: A 47-year-old man diagnosed with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) required prolonged admission to the intensive care unit (ICU). Four months later, he was diagnosed with thoracic candida spondylodiscitis. Medical management was insufficient, so he eventually underwent surgery. Discussions: Fungal infections seem to be more likely in patients with COVID-19, but it is unknown whether they are directly attributed to COVID-19 or other surrounding factors. Regardless of the answer, the diagnosis is complicated, and the mortality rate is high. Lessons: COVID-19 is posing a challenge to the society, and new and unexpected diseases that had once disappeared have risen again. It is our duty to suspect them and to treat them in the most effective way possible.
Intracorporeal knotting of a femoral nerve catheter
Authors: Mohamed Ghanem, Jörg Schnoor, Martin Wiegel, Christoph Josten, Andreas W Reske
Journal: GMS Interdiscip Plast Reconstr Surg DGPW (2015)
Keywords: complications, femoral nerve catheter, peripheral nerve catheters, postoperative pain management, regional anesthesia
MeSH terms: Case Reports

Peripheral nerve catheters are effective and well-established tools to provide postoperative analgesia to patients undergoing orthopedic surgery. The performance of these techniques is usually considered safe. However, placement of nerve catheters may be associated with a considerable number of side effects and major complications have repeatedly been published. In this work, we report on a patient who underwent total knee replacement with spinal anesthesia and preoperative insertion of femoral and sciatic nerve catheters for postoperative analgesia. During insertion of the femoral catheter, significant resistance was encountered upon retracting the catheter. This occurred due to knotting of the catheter. The catheter had to be removed by operative intervention which has to be considered a major complication. The postoperative course was uneventful. The principles for removal of entrapped peripheral catheters are not well established, may differ from those for neuroaxial catheters, and range from cautious manipulation up to surgical intervention.
A Challenging Diagnosis of Ascites: A Case Report of Peritoneal Tuberculosis
Authors: Jose Ruiz, Maedeh Ganji, Catarina Canha, Carmen Isache
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

Approximately 2 billion people, which is about one third of the world's population, are infected with tuberculosis (TB). Around 10% of infected people will develop active TB at one point in their lifetime. We present a rare case of a 68-year-old male who presented to the emergency department with a 2-week progressive dyspnea. In addition, the patient complained of generalized weakness, subjective fevers, and abdominal pain in the right upper quadrant. Ascites was noted on physical exam, and the patient underwent a diagnostic paracentesis with initial workup that was unrevealing for underlying etiology. Abdominal computed tomography was done, which revealed peritoneal carcinomatosis. He underwent omental biopsy which showed necrotizing granulomatous inflammation with rare acid-fast bacilli. Repeat biopsy was culture positive for mycobacterium tuberculosis complex. The patient was started on rifampin, isoniazid, pyrazinamide, and ethambutol with improvement of his symptoms days after treatment was started. This case demonstrates how the diagnosis of peritoneal tuberculosis can be elusive. Physicians must be aware of this disease and its behavior in high risk patients, also of the current diagnostic limitations.
Acute thiopurine overdose: analysis of reports to a National Poison Centre 1995-2013
Authors: Claudia Gregoriano, Alessandro Ceschi, Christine Rauber-Lüthy, Hugo Kupferschmidt, Nicholas R Banner, Stephan Krähenbühl, Anne B Taegtmeyer
Journal: PLoS One (2014)
MeSH terms: Antimetabolites / poisoning, Azathioprine / poisoning, Charcoal / therapeutic use, Drug Overdose / therapy, Gastric Lavage, Mercaptopurine / poisoning, Research Support, Non-U.S. Gov't, Adult, Ambulatory Care / statistics & numerical data, Child, Preschool, Drug Overdose / physiopathology, Female, Humans, Male, Poison Control Centers, Retrospective Studies, Switzerland, Antimetabolites, Charcoal, Mercaptopurine, Azathioprine

Literature regarding acute human toxicity of thiopurines is limited to a handful of case reports. Our objectives were to describe all cases of overdose with thiopurines reported to the Swiss Toxicological Information Centre between 1995-2013. A retrospective analysis was performed to determine circumstances, magnitude, management and outcome of overdose with these substances. A total of 40 cases (14 paediatric) were reported (azathioprine, n = 35; 6-mercaptopurine, n = 5). Of these, 25 were with suicidal intent, 12 were accidental and 3 were iatrogenic errors. The magnitude of overdose ranged from 1.5 to 43 (median 8) times the usual dose in adults. Twelve cases (30%) had attributable symptoms. The majority of these were minor and included gastrointestinal complaints and liver function test and blood count abnormalities. Symptoms were experienced by patients who took at least 1.5-times their usual daily thiopurine dose. Overdoses over two or more consecutive days, even if of modest size, were less well tolerated. One case of azathioprine and allopurinol co-ingestion over consecutive days led to agranulocytosis. Decontamination measures were undertaken in 11 cases (10 activated charcoal, 1 gastric lavage) and these developed fewer symptoms than untreated patients. This study shows that acute overdoses with thiopurines have a favourable outcome in the majority of cases and provides preliminary evidence that gastrointestinal decontamination with activated charcoal may reduce symptom development after overdose of these substances if patients present to medical services soon after ingestion.
Massive Hemoptysis in Children
Authors: Juan Yang, Fengqin Liu, Yan Liang, Chunyan Guo, Jinrong Wang, Xing Chen
Journal: Can Respir J (2020)
MeSH terms: Bronchial Arteries / abnormalities, Bronchial Arteries / diagnostic imaging, Bronchoscopy / methods, Embolization, Therapeutic / methods, Hemoptysis / diagnosis, Hemoptysis / etiology, Hemoptysis / physiopathology, Hemoptysis / therapy, Vascular Fistula / complications, Vascular Fistula / diagnostic imaging, Vascular Fistula / therapy, Vascular Malformations / complications, Vascular Malformations / diagnostic imaging, Vascular Malformations / therapy, Case Reports, Child, Computed Tomography Angiography / methods, Humans, Male, Pneumonia / etiology, Pneumonia / therapy, Radiography, Thoracic / methods, Severity of Illness Index, Treatment Outcome

Rationale. Hemoptysis is a rare but often life-threatening condition in pediatric patients. Massive hemoptysis can easily lead to asphyxia, respiratory failure, shock, and even death. The most common causes of severe hemoptysis are lower respiratory tract infection, vascular malformation, and bronchial foreign body. We present an unusual case of massive hemoptysis caused by malformation of the bronchial artery, which includes bronchial artery hypertrophy, bronchial-pulmonary artery fistula, and ectopic bronchial artery. Patient. An 11-year-old boy was admitted to the hospital with mild hemoptysis lasting for the two preceding days. He did not report any discomfort, such as fever or chest pain. His complete blood count and coagulation function were normal. Chest X-ray documented lower right pneumonia. Massive hemoptysis occurred on the night of the admission. Diagnosis. Bronchial arteriography revealed that the right lower bronchial artery and the ectopic bronchial artery from the renal artery were the responsible vessels for hemoptysis. Interventions. The boy underwent a successful bronchial artery embolization and bronchoscopy to remove the blood clot from the airway. Outcomes. After bronchial artery embolization and bronchoscopy, the boy recovered without complications. Hemoptysis and chest pain disappeared, and chest radiographs returned to normal. Lessons. Bronchial arterial bleeding often presents as life-threatening massive hemoptysis. Patients should immediately receive hemostatic treatment and undergo chest CTA, bronchial arteriography, BAE, and bronchoscopy according to their condition. Rapid identification of the etiology and symptomatic treatment are critical to saving the lives of children.
Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome
Authors: Meng-Che Tsai, Hui-Wen Yu, Tsunglin Liu, Yen-Yin Chou, Yuan-Yow Chiou, Peng-Chieh Chen
Journal: Front Genet (2018)
Keywords: alms1 gene, alström syndrome, childhood obesity, ciliopathy, retinitis pigmentosa, whole exome sequencing
MeSH terms: Case Reports

Alström syndrome (AS) is a rare autosomal recessive disorder that shares clinical features with other ciliopathy-related diseases. Genetic mutation analysis is often required in making differential diagnosis but usually costly in time and effort using conventional Sanger sequencing. Herein we describe a Taiwanese patient presenting cone-rod dystrophy and early-onset obesity that progressed to diabetes mellitus with marked insulin resistance during adolescence. Whole exome sequencing of the patient's genomic DNA identified a novel frameshift mutation in exons 15 (c.10290_10291delTA, p.Lys3431Serfs*10) and a rare mutation in 16 (c.10823_10824delAG, p.Arg3609Alafs*6) of ALMS1 gene. The compound heterozygous mutations were predicted to render truncated proteins. This report highlighted the clinical utility of exome sequencing and extended the knowledge of mutation spectrum in AS patients.