BMJ Case Reports最新文献_第9页

Advanced management of electrical storm: beyond antiarrhythmics. 电风暴的先进管理：超越抗心律失常。

IF 0.6

BMJ Case Reports Pub Date : 2025-09-17 DOI: 10.1136/bcr-2025-266174

Roopesh Sai Jakulla, Yazan Almohtasib, Raul Angel Garcia, Sanjaya Gupta

{"title":"Advanced management of electrical storm: beyond antiarrhythmics.","authors":"Roopesh Sai Jakulla, Yazan Almohtasib, Raul Angel Garcia, Sanjaya Gupta","doi":"10.1136/bcr-2025-266174","DOIUrl":"10.1136/bcr-2025-266174","url":null,"abstract":"The acute management of patients presenting with electrical storm secondary to ventricular arrhythmias (VAs) can be quite challenging, even with traditional attempts at rhythm control. Novel approaches are necessary to incorporate contemporary diagnostic investigations and therapeutic interventions to improve outcomes. Endomyocardial biopsy is an important but underutilised diagnostic tool that can rapidly guide the selection of tailored interventions, such as cardiac transplantation and other non-pharmacological interventions, to maximise survival. In our case, a previously healthy woman in her early 50s was hospitalised for symptomatic, pleomorphic ventricular tachycardia. Early rhythm control was achieved, but VAs recurred, consistent with electrical storm. Cardiac MRI demonstrated biventricular patchy fibrosis and late gadolinium enhancement. Endomyocardial biopsy confirmed giant cell myocarditis. She continued to deteriorate, developing cardiogenic shock requiring extracorporeal membrane oxygenation followed by urgent cardiac transplantation, eventually making a full recovery. We propose a contemporary algorithm for the management of electrical storm to maximise survival.","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12477422/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Macrotroponin as a cause of falsely elevated cardiac troponin in systemic sclerosis. 大肌钙蛋白是系统性硬化症患者心肌肌钙蛋白错误升高的原因。

IF 0.6

BMJ Case Reports Pub Date : 2025-09-17 DOI: 10.1136/bcr-2025-266536

Sherdya Tio, Fatima Zia, Caroline M Joyce, David J Halsall, John Ryan

引用次数: 0

Pulmonary alveolar proteinosis with atypical clinical and bronchoscopic features. 肺泡蛋白沉积症具有不典型的临床和支气管镜特征。

IF 0.6

BMJ Case Reports Pub Date : 2025-09-17 DOI: 10.1136/bcr-2025-266299

Hongshan Pu, Ming Yang

引用次数: 0

Debilitating musculoskeletal pain after solid organ transplantation: an under-recognised and serious condition associated with common immunosuppressive drug therapy. 实体器官移植后的衰弱性肌肉骨骼疼痛：一种与常见免疫抑制药物治疗相关的未被充分认识和严重的疾病。

IF 0.6

BMJ Case Reports Pub Date : 2025-09-15 DOI: 10.1136/bcr-2025-266427

Simon Smith, Bruce Dickson, Sheamus Fitzgerald, Jonathan S Murray

{"title":"Debilitating musculoskeletal pain after solid organ transplantation: an under-recognised and serious condition associated with common immunosuppressive drug therapy.","authors":"Simon Smith, Bruce Dickson, Sheamus Fitzgerald, Jonathan S Murray","doi":"10.1136/bcr-2025-266427","DOIUrl":"10.1136/bcr-2025-266427","url":null,"abstract":"Calcineurin inhibitors (CNIs) are essential medications for many people living with solid-organ transplants. CNI therapy helps prevent organ transplant rejection, though it requires monitoring to ensure efficacy and safety. Here we report a case of a young kidney transplant recipient who developed a severe and debilitating complication of CNI therapy that resolved following CNI dose reduction. CNI-induced pain syndrome (CIPS) may affect as many as 1 in 20 people treated with CNIs, including many of the 62 900 people in the United Kingdom who require CNI therapy following organ transplantation. Clinical presentation, severity and duration are variable, though the condition is often associated with elevated serum alkaline phosphatase levels. Limited awareness of CIPS, compounded by the potential for severe symptoms to develop even when CNI blood levels are within the standard therapeutic range, risks delayed recognition and significant patient suffering, as this case report highlights. Appropriate clinical suspicion of CIPS is thus imperative to limit patient harm and resource use associated with this under-recognised and potentially serious condition.","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145069035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Spontaneously perforated Meckel's diverticulum: a rare cause of neonatal acute abdomen. 自发性梅克尔憩室穿孔：新生儿急腹症的罕见病因。

IF 0.6

BMJ Case Reports Pub Date : 2025-09-14 DOI: 10.1136/bcr-2025-267617

Shoham Majumder, Aisha Naaz, Chinmay Chetan, Saikat Patra

引用次数: 0

ANCA and SLE overlap syndrome: treatment with intravenous cyclophosphamide complicated by CMV infection. ANCA和SLE重叠综合征：静脉环磷酰胺并发巨细胞病毒感染的治疗。

IF 0.6

BMJ Case Reports Pub Date : 2025-09-14 DOI: 10.1136/bcr-2024-263962

Ervine Ar Cheong, Susheel Sharma, Chris Dow, Alexander Nirenberg

{"title":"ANCA and SLE overlap syndrome: treatment with intravenous cyclophosphamide complicated by CMV infection.","authors":"Ervine Ar Cheong, Susheel Sharma, Chris Dow, Alexander Nirenberg","doi":"10.1136/bcr-2024-263962","DOIUrl":"10.1136/bcr-2024-263962","url":null,"abstract":"Overlap syndrome with systemic lupus erythematosus (SLE) and granulomatous polyangiitis with antineutrophil cytoplasmic antibody (ANCA) is rare. There are no international guidelines or randomised controlled trials for management.We present a woman in her 50s of Indian origin with a longstanding history of SLE who presented with new onset haematuria, rapidly declining kidney function and new proteinase-3-ANCA diagnosis. Biopsy findings were consistent with both lupus nephritis (LN) and ANCA-associated vasculitis (AAV)-predominantly ANCA vasculitis given the necrotising and crescentic features on histopathology. She was pulsed with methylprednisolone and subsequently managed with six cycles of low-dose intravenous cyclophosphamide with improvement to her kidney function. Her admission was complicated by cytomegalovirus (CMV) associated perinasal ulcers and colitis, which was managed with antiviral therapy.AAV/LN overlap syndrome is uncommon. Interaction between ANCA and SLE is not well understood.Readers should read more about CMV and its associated complications. Routine testing for CMV in the form of serology should be considered for patients prior to starting immunosuppressive therapy.","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145069024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Sweet clues in the urine: novel compound heterozygous SLC5A2 variants causing familial renal glucosuria presenting as recurrent urinary tract infections in an infant. 尿中的甜蜜线索：一种新的复合杂合SLC5A2变异引起家族性肾性血糖，表现为婴儿复发性尿路感染。

IF 0.6

BMJ Case Reports Pub Date : 2025-09-14 DOI: 10.1136/bcr-2025-267334

Swarnim Swarnim, Arnab Ghorui, Yagavan P, Sneh Kumar, Utkarsh Srivastava, Senthilkumar Thasarathan

{"title":"Sweet clues in the urine: novel compound heterozygous SLC5A2 variants causing familial renal glucosuria presenting as recurrent urinary tract infections in an infant.","authors":"Swarnim Swarnim, Arnab Ghorui, Yagavan P, Sneh Kumar, Utkarsh Srivastava, Senthilkumar Thasarathan","doi":"10.1136/bcr-2025-267334","DOIUrl":"10.1136/bcr-2025-267334","url":null,"abstract":"We present a case of a well-thriving infant, who was evaluated for recurrent fever over the past 4 months. History and prior investigations revealed recurrent urinary tract infections (UTIs). A comprehensive workup for recurrent UTIs showed no structural abnormalities of the kidneys or urinary tract. Even after resolved UTIs, the child had persistent glucosuria despite normal blood glucose levels, suggesting a possible tubular disorder. Further evaluation was negative for generalised tubular dysfunction. Whole-exome sequencing (WES) identified novel compound heterozygous variants in the SLC5A2 gene, which encodes the sodium-glucose cotransporter 2, confirming a diagnosis of familial renal glucosuria (FRG). FRG is a rare, benign tubular disorder with no specific treatment; management primarily focuses on preventing and treating associated UTIs. Comprehensive genetic counselling is essential. This case underscores the importance of recognising isolated glucosuria as a potential indicator of an underlying genetic tubular disorder.","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145069046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pulmonary paragonimiasis in an asymptomatic young man: a diagnostic clue from lung cysts and eosinophilia. 无症状青年肺吸虫病：肺囊肿和嗜酸性粒细胞增多的诊断线索。

IF 0.6

BMJ Case Reports Pub Date : 2025-09-14 DOI: 10.1136/bcr-2025-266830

Keita Hara, Yoshiaki Kinoshita, Ryo Hayashida, Hiroshi Ishii

引用次数: 0

Optimising anaesthetic management during fronto-orbital advancement in an infant with Apert syndrome. Apert综合征婴儿额眶前移麻醉管理的优化。

IF 0.6

BMJ Case Reports Pub Date : 2025-09-14 DOI: 10.1136/bcr-2025-266714

Gersheena Laylay Florendo, Geraldine Raphaela Bernardo Jose

引用次数: 0

Mesalazine-induced neutropenia: a rare idiosyncratic reaction. 美沙拉嗪引起的中性粒细胞减少症：一种罕见的特殊反应。