OpenMed/multicare-articles huggingface dataset:
Mobile technology supporting trainee doctors' workplace learning and patient care: an evaluation
Authors: Wendy Hardyman, Alison Bullock, Alice Brown, Sophie Carter-Ingram, Mark Stacey
Journal: BMC Med Educ (2013)
MeSH terms: Cell Phone, Education, Medical, Continuing / methods, Textbooks as Topic, Research Support, Non-U.S. Gov't, Female, Humans, Information Seeking Behavior, Male, Patient Care / methods, Patient Care / standards, Surveys and Questionnaires, Workplace

Background:
The amount of information needed by doctors has exploded. The nature of knowledge (explicit and tacit) and processes of knowledge acquisition and participation are complex. Aiming to assist workplace learning, Wales Deanery funded "iDoc", a project offering trainee doctors a Smartphone library of medical textbooks.
Methods:
Data on trainee doctors' (Foundation Year 2) workplace information seeking practice was collected by questionnaire in 2011 (n = 260). iDoc baseline questionnaires (n = 193) collected data on Smartphone usage alongside other workplace information sources. Case reports (n = 117) detail specific instances of Smartphone use.
Results:
Most frequently (daily) used information sources in the workplace: senior medical staff (80% F2 survey; 79% iDoc baseline); peers (70%; 58%); and other medical/nursing team staff (53% both datasets). Smartphones were used more frequently by males (p < 0.01). Foundation Year 1 (newly qualified) was judged the most useful time to have a Smartphone library because of increased responsibility and lack of knowledge/experience.Preferred information source varied by question type: hard copy texts for information-based questions; varied resources for skills queries; and seniors for more complex problems. Case reports showed mobile technology used for simple (information-based), complex (problem-based) clinical questions and clinical procedures (skills-based scenarios). From thematic analysis, the Smartphone library assisted: teaching and learning from observation; transition from medical student to new doctor; trainee doctors' discussions with seniors; independent practice; patient care; and this 'just-in-time' access to reliable information supported confident and efficient decision-making.
Conclusion:
A variety of information sources are used regularly in the workplace. Colleagues are used daily but seniors are not always available. During transitions, constant access to the electronic library was valued. It helped prepare trainee doctors for discussions with their seniors, assisting the interchange between explicit and tacit knowledge.By supporting accurate prescribing and treatment planning, the electronic library contributed to enhanced patient care. Trainees were more rapidly able to medicate patients to reduce pain and more quickly call for specific assessments. However, clinical decision-making often requires dialogue: what Smartphone technology can do is augment, not replace, discussion with their colleagues in the community of practice.
Eculizumab for Thrombotic Microangiopathy Associated with Antibody-Mediated Rejection after ABO-Incompatible Kidney Transplantation
Authors: Luca Lanfranco, Melanie Joly, Arnaud Del Bello, Laure Esposito, Noelle Cognard, Peggy Perrin, Bruno Moulin, Nassim Kamar, Sophie Caillard
Journal: Case Rep Transplant (2017)
MeSH terms: Case Reports

Thrombotic microangiopathy is a form of antibody-mediated rejection (ABMR): it is the main complication of ABO-incompatible (ABOi) kidney transplantation (KT). Herein, we report on two cases of ABMR with biological and histological features of thrombotic microangiopathy (TMA) that were treated by eculizumab after ABOi KT. The first patient presented with features of TMA at postoperative day (POD) 13. Because of worsening biological parameters and no recovery of kidney function, despite seven sessions of immunoadsorption, a salvage therapy of eculizumab was started on POD 23. Kidney function slightly improved during the first 4 months after transplantation. Eculizumab was stopped at month 4. However, kidney function worsened progressively, leading to dialysis at month 13 after transplantation. The second patient presented with features of TMA at POD 1. In addition to immunoadsorption therapy, eculizumab was started on POD 6. Kidney function improved. Eculizumab was stopped on POD 64 and immunoadsorption sessions were stopped on POD 102. At the last follow-up (after 9 months), eGFR was at 43 mL/min/1.73 m2. Our case reports show the beneficial effect of eculizumab to treat ABMR after ABOi KT. However, it should be given early after diagnosing TMA associated with ABMR.
Brucella endocarditis as a late onset complication of brucellosis
Authors: Panagiotis Andriopoulos, Christos Antoniou, Panagiota Manolakou, Athanassios Vasilopoulos, George Assimakopoulos, Maria Tsironi
Journal: Case Rep Infect Dis (2015)

Brucella endocarditis (BE) is a rare but life threatening complication of brucellosis. We present a case report of a patient with relapsing brucellosis complicated with aortic valve endocarditis. The patient underwent valve replacement and required prolonged antibiotic treatment because of rupture of the noncoronary leaflet and development of congestive heart failure. Since the onset of endocarditis in patients with brucellosis is not known, proper follow-up is required in order to identify any late onset complications, especially in endemic areas.
An Interdisciplinary Approach for Hypoplastic Amelogenesis Imperfecta: A Case Report
Authors: Gulfem Ergun, Ayse Seda Ataol
Journal: Open Dent J (2018)
Keywords: amelogenesis imperfecta, dental anomalies, dentine, enamel, esthetic, full mouth rehabilitation
MeSH terms: Case Reports

Introduction:
Generally, the appropriate rehabilitation concepts of patients with Amelogenesis Imperfecta (AI) should include a multidisciplinary treatment approach.
Case report:
This case report describes full mouth rehabilitation of a patient with AI. A 20 years old woman was referred to our clinic with a chief complaint of tooth discoloration, diastema, unsatisfactory esthetics and slight tooth sensitivity. Clinical, histological and radiographic examination revealed hypoplastic AI. Short crowns, diastema, occlusal wear with exposed dentin in the posterior areas, the lack of contact points, dental caries and discoloration were the other clinical findings.
Results:
As a result of the periodontal and prosthetic evaluation, gingivectomy and ostectomy were planned, and they followed a full mouth fixed prosthetic restoration.
Conclusion:
There was no complication or complaint in a 3-year follow-up. At the end of this follow-up period, the patient was satisfied with esthetics, function and phonation properties of her prostheses.
A 27-Month-Old Boy with Polyuria and Polydipsia
Authors: Yvonne Lee, Erica Winnicki, Lavjay Butani, Stephanie Nguyen
Journal: Case Rep Pediatr (2018)
MeSH terms: Case Reports

Psychogenic polydipsia is a well-described phenomenon in those with a diagnosed psychiatric disorder such as schizophrenia and anxiety disorders. Primary polydipsia is differentiated from psychogenic polydipsia by the lack of a clear psychotic disturbance. We present a case of a 27-month-old boy who presented with polyuria and polydipsia. Laboratory studies, imaging, and an observed water deprivation test were consistent with primary polydipsia. Polydipsia resolved after family limited his fluid intake and began replacing water drinking with other transition objects and behaviors for self-soothing. This case highlights the importance of water deprivation testing to differentiate between causes of polyuria, thereby avoiding misdiagnosis and iatrogenic hyponatremia. Secondly, primary polydipsia can result during the normal stages of child development without overt psychiatric disturbances.
Case Report: Off-Label Liraglutide Use in Children With Wolfram Syndrome Type 1: Extensive Characterization of Four Patients
Authors: Giulio Frontino, Tara Raouf, Daniele Canarutto, Eva Tirelli, Raffaella Di Tonno, Andrea Rigamonti, Maria Lucia Cascavilla, Cristina Baldoli, Roberta Scotti, Letizia Leocani, Su-Chun Huang, Franco Meschi, Graziano Barera, Vania Broccoli, Greta Rossi, Silvia Torchio, Raniero Chimienti, Riccardo Bonfanti, Lorenzo Piemonti
Journal: Front Pediatr (2021)
Keywords: glp1 receptor agonists, wolfram syndrome, wolfram syndrome 1 (wfs1), liraglutide, monogenic diabetes, neurodegeneration
MeSH terms: Case Reports

Aims: Wolfram syndrome type 1 is a rare recessive monogenic form of insulin-dependent diabetes mellitus with progressive neurodegeneration, poor prognosis, and no cure. Based on preclinical evidence we hypothesized that liraglutide, a glucagon-like peptide-1 receptor agonist, may be repurposed for the off-label treatment of Wolfram Syndrome type 1. We initiated an off-label treatment to investigate the safety, tolerability, and efficacy of liraglutide in pediatric patients with Wolfram Syndrome type 1. Methods: Pediatric patients with genetically confirmed Wolfram Syndrome type 1 were offered off-label treatment approved by The Regional Network Coordination Center for Rare Diseases, Pharmacological Research IRCCS Mario Negri, and the internal ethics committee. Four patients were enrolled; none refused nor were excluded or lost during follow-up. Liraglutide was administered as a daily subcutaneous injection. Starting dose was 0.3 mg/day. The dose was progressively increased as tolerated, up to the maximum dose of 1.8 mg/day. The primary outcome was evaluating the safety, tolerability, and efficacy of liraglutide in Wolfram Syndrome type 1 patients. Secondary endpoints were stabilization or improvement of C-peptide secretion as assessed by the mixed meal tolerance test. Exploratory endpoints were stabilization of neurological and neuro-ophthalmological degeneration, assessed by optical coherence tomography, electroretinogram, visual evoked potentials, and magnetic resonance imaging. Results: Four patients aged between 10 and 14 years at baseline were treated with liraglutide for 8-27 months. Liraglutide was well-tolerated: all patients reached and maintained the maximum dose, and none withdrew from the study. Only minor transient gastrointestinal symptoms were reported. No alterations in pancreatic enzymes, calcitonin, or thyroid hormones were observed. At the latest follow-up, the C-peptide area under the curve ranged from 81 to 171% of baseline. Time in range improved in two patients. Neuro-ophthalmological and neurophysiological disease parameters remained stable at the latest follow-up. Conclusions: We report preliminary data on the safety, tolerability, and efficacy of liraglutide in four pediatric patients with Wolfram Syndrome type 1. The apparent benefits both in terms of residual C-peptide secretion and neuro-ophthalmological disease progression warrant further studies on the repurposing of glucagon-like peptide-1 receptor agonists as disease-modifying agents for Wolfram Syndrome type 1.
Potential Therapeutic Options for COVID-19: Current Status, Challenges, and Future Perspectives
Authors: Chandan Sarkar, Milon Mondal, Muhammad Torequl Islam, Miquel Martorell, Anca Oana Docea, Alfred Maroyi, Javad Sharifi-Rad, Daniela Calina
Journal: Front Pharmacol (2020)
Keywords: covid-19 proposed therapy, severe acute respiratory syndrome coronavirus 2 (sars-cov-2), convalescent plasma, pandemic, therapeutic challenges
MeSH terms: Review

The COVID-19 pandemic represents an unprecedented challenge for the researchers to offer safe, tolerable, and effective treatment strategies for its causative agent known as SARS-CoV-2. With the rapid evolution of the pandemic, even the off-label use of existing drugs has been restricted by limited availability. Several old antivirals, antimalarial, and biological drugs are being reconsidered as possible therapies. The effectiveness of the controversial treatment options for COVID-19 such as nonsteroidal antiinflammatory drugs, angiotensin 2 conversion enzyme inhibitors and selective angiotensin receptor blockers was also discussed. A systemic search in the PubMed, Science Direct, LitCovid, Chinese Clinical Trial Registry, and ClinicalTrials.gov data bases was conducted using the keywords "coronavirus drug therapy," passive immunotherapy for COVID-19', "convalescent plasma therapy," (CPT) "drugs for COVID-19 treatment," "SARS-CoV-2," "COVID-19," "2019-nCoV," "coronavirus immunology," "microbiology," "virology," and individual drug names. Systematic reviews, case presentations and very recent clinical guidelines were included. This narrative review summarizes the available information on possible therapies for COVID-19, providing recent data to health professionals.
Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant
Authors: Zhenyu Liao, Yali Liu, Yimin Wang, Qin Lu, Yu Peng, Qingsong Liu
Journal: Front Pediatr (2022)
Keywords: clifahdd, nalcn, de novo mutation, neurodevelopmental retardation, sodium ion leak channel
MeSH terms: Case Reports

Background:
The NALCN encodes a sodium ion leak channel that regulates nerve-resting conductance and excitability. NALCN variants are associated with two neurodevelopmental disorders, one is CLIFAHDD (autosomal dominant congenital contractures of the limbs and face, hypotonia, and developmental delay, OMIM #616266) and another is IHPRF (infantile hypotonia with psychomotor retardation, and characteristic facies 1, OMIM #615419).
Case presentation:
In the current study, a Chinese infant that manifested abnormal facial features, adducted thumbs, and neurodevelopmental retardation was diagnosed with CLIFAHDD syndrome. A trio-based whole-exome sequencing revealed that the infant harbored a de novo variant of the NALCN gene (c.4300A>G, p.I1434V).
Conclusions:
Our findings further enriched the variant spectrum of the NALCN gene and may expand the clinical range of NALCN-related disorders.
Sigmoid Venous Thrombosis in JAK2 V617F Mutated Polycythemia Vera
Authors: Cilomar Martins De Oliveira Filho, Alexander Gavralidis
Journal: Case Rep Hematol (2022)
MeSH terms: Case Reports

A 60-year-old female presented with headaches, blurry vision, diplopia, and dizziness for six weeks. Her workup revealed an elevated hematocrit, thrombocytosis, high ferritin, and normal erythropoietin. She was diagnosed with polycythemia vera with the JAK2 V617F mutation. The patient underwent magnetic resonance venography, which showed left-sided sigmoid venous thrombosis. She was placed on low-molecular-weight heparin, with a plan to transition to oral anticoagulation after four weeks and repeat imaging in three months to assess for resolution. Thrombotic events may occur in patients with polycythemia vera, and a JAK2 mutation further heightens that risk. Even so, intracranial venous thrombosis is not among the most common events, and it should be kept in the differential for any patient with myeloproliferative neoplasms presenting with new neurological symptoms.
Difficulties in the diagnosis and management of alveolar hydatid disease: A case series
Authors: Ghodratollah Maddah, Abbas Abdollahi, Reza Sharifi-Nooghabi, Alireza Tavassoli, Mohammad Taghi Rajabi-Mashadi, Azadeh Jabbari-Nooghabi, Mehdi Jabbari-Nooghabi
Journal: Caspian J Intern Med (2016)
Keywords: alveolar echinoccosis, diagnosis, echinococcus multilocularis, treatment
MeSH terms: Case Reports

Background:
Alveolar echinococcosis (AE) is a chronic, rare and sometimes lethal parasitic infection in humans, caused by the larval stage of the fox tapeworm Echinococcus multilocularis. This study aimed to investigate the clinical aspects and treatment outcomes of patients with alveolar hydatid disease.
Methods:
The medical records of patients with alveolar echinococcosis admitted between 1997 and 2012 were reviewed. Diagnosis was confirmed by physical examination, ultrasonography and CT scanning and MRI. Various treatment techniques were used such as complete liver resection in seven (38.89%) patients, biliary bypass in two (11.11%) patients, laparotomy and tumor biopsy in eight (44.44%) patients and long term medical treatment in one (5.56%) patient. After discharge, all patients were followed to determine the effect of treatment, complications, recurrences and survival.
Results:
A total of 18 patients with mean age of 46.11±15.14 years (range 23-74 years) were studied. The disease was more prevalent in women than men (78.9% vs 4, 21.1%, P=0.021). Fourteen (77.78%) patients live in Chenaran, a town located in Khorasan, Iran). Death occurred in (22.22%) patients after an average period of 45.70±7.50 months after disease onset. 14 remaining patients survived after a mean follow-up duration of 54.60±29.17 months.
Conclusion:
Diagnosis of alveolar echinococcosis should be considered in endemic area. Early diagnosis and treatment is associated with excellent outcome.
Hughes-Stovin syndrome: a case report and review of the literature
Authors: Athanasios N Chalazonitis, Stefanos B Lachanis, Panagiotis Mitseas, Panagiotis Argyriou, Joannie Tzovara, Petros Porfyrides, Evangelia Sotiropoulou, Nikolaos Ptohis
Journal: Cases J (2009)

Background:
Hughes-Stovin syndrome is a rare entity. The aetiology of Hughes-Stovin syndrome is still unknown and the natural course of the illness is usually fatal; however it is supposed to be a clinical variant manifestation of Behçet disease.
Case presentation:
We report the case of an 18 years old, greek male patient with Hughes-Stovin syndrome, who initially presented with deep vein thrombosis. There were no findings consistent with Behçet disease and the haemoptysis was treated successfully with methylprednisolone. Pathogenesis, imaging investigation and treatment of this syndrome are also briefly discussed.
Conclusion:
In young men presenting with venous thrombosis as revealed on imaging examination, with platelet count and coagulation tests within normal and hemoptysis the eventuality of Hughes-Stovin syndrome is to be considered.
Traumatic diaphragmatic rupture successfully managed in 4-year-old patient: Case report and literature review
Authors: Adel Elkbuli, Evander Meneses, Aaron Shepherd, Mark McKenney, Dessy Boneva
Journal: Int J Surg Case Rep (2020)
Keywords: motor vehicle collisions, pediatric trauma, trauma outcomes, traumatic diaphragmatic hernia
MeSH terms: Case Reports

Introduction:
Traumatic diaphragmatic ruptures are rare injuries in the pediatric population that can present with dyspnea, abdominal pain, or even be asymptomatic.
Case presentation:
A 4-year-old boy presents to our Level 1 Pediatric Trauma Center after being hit by a car. He presented awake and alert but with low oxygen saturations and chief complaint of left sided abdominal and chest pain. The initial chest radiograph showed an elevated left diaphragm and bilateral opacities. A laparoscopic approach confirmed the diagnosis of a diaphragm rupture and an open approach allowed for the diaphragm repair, after returning the stomach, colon and spleen back to the abdominal cavity. He had an uneventful recovery and was discharged home on postoperative day seven.
Discussion:
Traumatic diaphragmatic hernia continues to be a difficult diagnosis to make without a high index of suspicion with variable time to diagnosis. This has been attributed to nonspecific clinical presentation and low incidence of the condition. Chest radiograph has been suggested to be an appropriate initial imaging modality with computed tomography as an accurate adjunct. Right sided diaphragm hernias, although less common, still occur and are often misdiagnosed. Recovery without significant morbidity after definitive surgical treatment with laparotomy is common.
Conclusion:
Consider a traumatic diaphragmatic hernia in a blunt pediatric trauma patient with abdominal pain and dyspnea once other life-threatening injuries have been ruled out. This is an easily missed injury that can lead to significant morbidity and mortality if not identified early in the patient's hospital course.
Making memories: the development of long-term visual knowledge in children with visual agnosia
Authors: Tiziana Metitieri, Carmen Barba, Simona Pellacani, Maria Pia Viggiano, Renzo Guerrini
Journal: Neural Plast (2013)
MeSH terms: Agnosia / psychology, Learning / physiology, Case Reports, Adolescent, Age of Onset, Child, Discrimination, Psychological / physiology, Electroencephalography, Female, Humans, Intelligence Tests, Knowledge, Magnetic Resonance Imaging, Male, Memory / physiology, Mental Recall / physiology, Neuropsychological Tests, Occipital Lobe / physiology, Psychomotor Performance / physiology, Recognition, Psychology / physiology, Verbal Behavior, Visual Cortex / physiology, Visual Fields, Visual Perception / physiology

There are few reports about the effects of perinatal acquired brain lesions on the development of visual perception. These studies demonstrate nonseverely impaired visual-spatial abilities and preserved visual memory. Longitudinal data analyzing the effects of compromised perceptions on long-term visual knowledge in agnosics are limited to lesions having occurred in adulthood. The study of children with focal lesions of the visual pathways provides a unique opportunity to assess the development of visual memory when perceptual input is degraded. We assessed visual recognition and visual memory in three children with lesions to the visual cortex having occurred in early infancy. We then explored the time course of visual memory impairment in two of them at 2 years and 3.7 years from the initial assessment. All children exhibited apperceptive visual agnosia and visual memory impairment. We observed a longitudinal improvement of visual memory modulated by the structural properties of objects. Our findings indicate that processing of degraded perceptions from birth results in impoverished memories. The dynamic interaction between perception and memory during development might modulate the long-term construction of visual representations, resulting in less severe impairment.
The first prospective application of AIGS real-time fluorescence PCR in precise diagnosis and treatment of meningioma: Case report
Authors: Zhe Han, Huizhong Chi, Xueen Li, Deze Jia, Haiyan Li, Shilei Ni, Kailiang Zhang, Zichao Feng, Qingtong Wang, Hao Xue, Gang Li
Journal: Front Neurosci (2023)
Keywords: pcr, tertp, intraoperative, meningioma, molecular diagnosis, surgery
MeSH terms: Case Reports

Background:
The emergence of the new WHO classification standard in 2021 incorporated molecular characteristics into the diagnosis system for meningiomas, making the diagnosis and treatment of meningiomas enter the molecular era.
Recent findings:
At present, there are still some problems in the clinical molecular detection of meningioma, such as low attention, excessive detection, and a long cycle. In order to solve these clinical problems, we realized the intraoperative molecular diagnosis of meningioma by combining real-time fluorescence PCR and AIGS, which is also the first known product applied to the intraoperative molecular diagnosis of meningioma.
Implications for practice:
We applied AIGS to detect and track a patient with TERTp mutant meningioma, summarized the process of intraoperative molecular diagnosis, and expounded the significance of intraoperative molecular diagnosis under the new classification standard, hoping to optimize the clinical decision-making of meningioma through the diagnosis and treatment plan of this case.