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Cystic lung disease: a family's shared path to discovery. 囊性肺病：一个家庭共同的发现之路。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2025-265069
Rahul Tyagi, Gaurav Mishra, Ritwik Chakrabarti, Anurodh Gupta
{"title":"Cystic lung disease: a family's shared path to discovery.","authors":"Rahul Tyagi, Gaurav Mishra, Ritwik Chakrabarti, Anurodh Gupta","doi":"10.1136/bcr-2025-265069","DOIUrl":"https://doi.org/10.1136/bcr-2025-265069","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708454","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
Delayed pancreatic metastasis from forearm mesenchymal chondrosarcoma: a diagnostic challenge. 前臂间充质软骨肉瘤的延迟胰腺转移：一个诊断挑战。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2025-265156
Divij Agarwal, Abhilash Gunasekaran, Prasenjit Das, Savita Agarwal, Shiv Shanker Verma, Amarinder Singh Malhi
{"title":"Delayed pancreatic metastasis from forearm mesenchymal chondrosarcoma: a diagnostic challenge.","authors":"Divij Agarwal, Abhilash Gunasekaran, Prasenjit Das, Savita Agarwal, Shiv Shanker Verma, Amarinder Singh Malhi","doi":"10.1136/bcr-2025-265156","DOIUrl":"https://doi.org/10.1136/bcr-2025-265156","url":null,"abstract":"<p><p>Mesenchymal chondrosarcoma is a rare, high-grade malignant tumour comprising 2-4% of all chondrosarcomas, with pancreatic metastasis being exceptionally uncommon. A woman in her late 20s, with a history of forearm mesenchymal chondrosarcoma treated 5 years ago presented with jaundice, weight loss and generalised pruritus. Ultrasound followed by CT revealed a calcified pancreatic mass with surrounding vascular encasement, initially raising the possibility of pancreatic adenocarcinoma. A biopsy revealed the lesion to be a metastatic mesenchymal chondrosarcoma based on histomorphology and immunophenotyping. Being a locally advanced tumour, resection was deemed impossible, and the patient was referred for chemotherapy with regimens modelled on Ewing's sarcoma treatment protocols. This case underscores the rarity of delayed pancreatic metastasis in mesenchymal chondrosarcoma, the importance of careful histological examination, and the absence of established therapeutic guidelines.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708458","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
Lower ureteric amyloidoma mimicking urothelial carcinoma: diagnostic and therapeutic challenges. 输尿管下段淀粉样瘤模拟尿路上皮癌：诊断和治疗的挑战。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2024-264266
Jeena Kudunthail, Mahendra Singh, Arjun Singh Sandhu, Vikarn Vishwajeet
{"title":"Lower ureteric amyloidoma mimicking urothelial carcinoma: diagnostic and therapeutic challenges.","authors":"Jeena Kudunthail, Mahendra Singh, Arjun Singh Sandhu, Vikarn Vishwajeet","doi":"10.1136/bcr-2024-264266","DOIUrl":"https://doi.org/10.1136/bcr-2024-264266","url":null,"abstract":"<p><p>Amyloidosis comprises a group of disorders characterised by the buildup of amyloid substances outside cells. This condition can manifest as either a systemic disorder affecting multiple organs or a localised disorder impacting specific organs. While systemic amyloidosis is more common, localised amyloidosis within the urinary tract, particularly the ureter, is rare.Localised ureteral amyloidosis presents a diagnostic challenge because its clinical and radiological features can resemble those of neoplastic conditions, such as urothelial carcinoma. This similarity in presentation can make it difficult to accurately diagnose the condition before surgery.This report discusses a notable case of ureteral amyloidosis that was initially mistaken for urothelial carcinoma based on imaging findings. Understanding such cases is crucial for improving the diagnosis and management of localised urinary tract amyloidosis, especially in the context of lower ureteral malignancies.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708530","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
Removal of a 'cold-welded' femoral head lag screw in a nail combination. 在联合钉中取出“冷焊”股骨头螺钉。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2024-264090
Ryan J Campbell, Michael Symes, Brahman Sivakumar, Zac Dragan, Stephen Ruff, Andrew Ellis
{"title":"Removal of a 'cold-welded' femoral head lag screw in a nail combination.","authors":"Ryan J Campbell, Michael Symes, Brahman Sivakumar, Zac Dragan, Stephen Ruff, Andrew Ellis","doi":"10.1136/bcr-2024-264090","DOIUrl":"10.1136/bcr-2024-264090","url":null,"abstract":"<p><p>We present a case of a femoral head lag screw 'cold welded' to an intramedullary nail (IMN) in a female in her 20s during exchange femoral nailing of a subtrochanteric femoral osteotomy non-union. We subsequently developed a reverse spiral-fluted bolt extraction socket, designed to engage the outer wall of a bolt or screw. The lag screw was removed from the Smith and Nephew Meta-Tan IMN, 1 week later, and exchange nailing was successfully completed. This case report describes a technically challenging situation of a cold-welded femoral head lag screw during a complex revision. This report introduces a novel removal device and technique for such cases.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11937885/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708394","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
Diagnosis and management of Koro-like syndrome in women. 女性koro样综合征的诊断和治疗。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2024-261726
Richa Shukla, Porimita Chutia, Shailendra Mohan Tripathi
{"title":"Diagnosis and management of Koro-like syndrome in women.","authors":"Richa Shukla, Porimita Chutia, Shailendra Mohan Tripathi","doi":"10.1136/bcr-2024-261726","DOIUrl":"https://doi.org/10.1136/bcr-2024-261726","url":null,"abstract":"<p><p>Koro is a culture-bound syndrome prevalent in South-East Asian cultures. It is characterised by acute anxiety due to the fear of genital retraction which is believed to lead to death. While predominantly observed in men, cases involving women at an early age have been reported during Koro outbreaks. This paper describes a sporadic case of Koro-like syndrome in a South Asian woman in her 70s focusing on the psychological underpinnings contributing to its development and the importance of adopting a comprehensive management plan that addresses both psychiatric symptoms and co-occurring somatic issues.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708469","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
Post-transplant lymphoproliferative disorder presenting as large bowel obstruction leading to distributive shock. 移植后淋巴细胞增生性疾病，表现为大肠梗阻，导致分布性休克。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2024-262580
Amy Wang, Brendan Flynn, Mary O'Donnell, Rathnayaka Mudiyanselage Kalpanee Dhanushika Gunasingha
{"title":"Post-transplant lymphoproliferative disorder presenting as large bowel obstruction leading to distributive shock.","authors":"Amy Wang, Brendan Flynn, Mary O'Donnell, Rathnayaka Mudiyanselage Kalpanee Dhanushika Gunasingha","doi":"10.1136/bcr-2024-262580","DOIUrl":"https://doi.org/10.1136/bcr-2024-262580","url":null,"abstract":"<p><p>A woman in her 70s with a history of liver transplantation presented with constipation and leucocytosis. Imaging demonstrated a large obstructing sigmoid mass. She underwent a colonoscopy that showed narrowing but no luminal mass. She underwent an interventional radiology guided biopsy of the mass. Post-procedurally, she developed tachycardia and hypotension. She was taken to the operating room and was found to be haemorrhaging from the biopsy sites. The haemorrhage was controlled, and she underwent a diverting transverse loop colostomy. Postoperatively, she developed distributive shock that progressed despite resuscitative efforts. Her pathology returned as Epstein-Barr virus positive monomorphic post-transplant lymphoproliferative disorder (PTLD) of diffuse large B-cell lymphoma type. The distributive shock was from massive cytokine release secondary to her lymphoma, so she was started on an urgent chemotherapy regimen. Despite this, she never recovered haemodynamically, and she was compassionately extubated. The clinical presentation of PTLD can be variable with rapidly progressing life-threatening manifestations.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708052","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
Fever and extensive venous and intracardiac thrombus in Behçet syndrome. behet综合征的发热和广泛的静脉血栓和心内血栓。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2024-264057
Hana Tammam Najem, Abdullah N AlAwadhi, Dalal Alkhudair, Noura Alforaih
{"title":"Fever and extensive venous and intracardiac thrombus in Behçet syndrome.","authors":"Hana Tammam Najem, Abdullah N AlAwadhi, Dalal Alkhudair, Noura Alforaih","doi":"10.1136/bcr-2024-264057","DOIUrl":"https://doi.org/10.1136/bcr-2024-264057","url":null,"abstract":"<p><p>We report a case of Behçet syndrome in a young male who presented with fever, oral and genital ulcerations and weight loss. Investigations revealed elevated inflammatory markers and extensive venous thrombosis of the renal vein, inferior vena cava and segmental and subsegmental pulmonary embolisms. He was found to have an intracardiac thrombus in the right atrium and pulmonary nodules. He was diagnosed with Behçet syndrome and was treated with corticosteroids, azathioprine and colchicine. He underwent right atrial thrombus extirpative surgery, and he had a patent foramen ovale, which was closed. Postoperatively, warfarin was started, and infliximab was added to his treatment. Behçet syndrome should be considered early in cases with unexplained venous thrombosis if the patient has other typical clinical features. Fever in Behçet syndrome is typically associated with vascular involvement. Vascular and cardiac involvement is associated with high morbidity and mortality. Therefore, early diagnosis can improve prognosis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708423","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
Desmoid fibromatosis of the breast. 乳腺硬纤维瘤病。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2024-264208
Aqsa Amjad, Kulsoom Shaikh, Romana Idress, Sana Zeeshan
{"title":"Desmoid fibromatosis of the breast.","authors":"Aqsa Amjad, Kulsoom Shaikh, Romana Idress, Sana Zeeshan","doi":"10.1136/bcr-2024-264208","DOIUrl":"https://doi.org/10.1136/bcr-2024-264208","url":null,"abstract":"<p><p>Desmoid-type fibromatosis (DTF) is a rare non-metastatic mesenchymal tumour that accounts for only 0.2% of all primary breast neoplasms. This locally aggressive tumour has a high recurrence rate and primarily affects women aged 20-40 years. DTF often presents with features mimicking breast carcinoma, posing diagnostic challenges and the risk of mismanagement. We report a case of a young woman with a left-sided breast mass and skin dimpling. Initial ultrasound and core needle biopsy findings suggested adenosis and intraductal papilloma. Due to the strong clinical suspicion of malignancy, a wide local excision was performed, which confirmed DTF. The patient is currently under surveillance with a regular MRI on follow-up. This case underscores the diagnostic difficulty of DTF, and due to its rarity and limited data, optimal management is debated. Current guidelines favour a conservative 'watch and wait' strategy, with surgery reserved for symptomatic cases. Close follow-up is crucial due to the high risk of recurrence.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708463","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
Arcuate pattern of retinal ganglion cell axons in oculocutaneous albinism has implications for axon pathfinding. 眼皮肤白化病视网膜神经节细胞轴突的弓形模式具有轴突寻路的意义。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2025-264855
Jesse Gale, James Corbett, Su-Young Seo, Anne-Marie Yardley
{"title":"Arcuate pattern of retinal ganglion cell axons in oculocutaneous albinism has implications for axon pathfinding.","authors":"Jesse Gale, James Corbett, Su-Young Seo, Anne-Marie Yardley","doi":"10.1136/bcr-2025-264855","DOIUrl":"https://doi.org/10.1136/bcr-2025-264855","url":null,"abstract":"<p><p>Humans have a characteristic arcuate pattern of retinal ganglion cell (RGC) axons on the retina, indicating an unknown axon-repellent factor in the macula during development. This arcuate pattern has implications for diseases such as glaucoma. Albinism is an interesting group of conditions with loss of the radial foveal architecture (foveal hypoplasia) and abnormal RGC axon pathfinding at the optic chiasm. Here, we achieved optical coherence tomography imaging in a patient with oculocutaneous albinism type 1 (OCA1), which is challenging due to nystagmus. These scans showed a normal pattern of arcuate ganglion cells despite a severely hypoplastic fovea. This implies that there are multiple factors contributing to the radial pattern of the fovea and arcuate pattern of RGC axons, but OCA1 does not affect the latter.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708353","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
Rare occurrence of anticoagulant-related nephropathy in a patient with mechanical mitral valve replacement. 机械二尖瓣置换术患者抗凝相关肾病的罕见发生。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2024-262680
Ru Fah Then, Durga Arinandini Arimuthu, Kar Wah Fuah, Christopher Thiam Seong Lim
{"title":"Rare occurrence of anticoagulant-related nephropathy in a patient with mechanical mitral valve replacement.","authors":"Ru Fah Then, Durga Arinandini Arimuthu, Kar Wah Fuah, Christopher Thiam Seong Lim","doi":"10.1136/bcr-2024-262680","DOIUrl":"https://doi.org/10.1136/bcr-2024-262680","url":null,"abstract":"<p><p>Anticoagulant-related nephropathy (ARN) is a rare type of acute kidney injury (AKI) caused by excessive anticoagulation with warfarin or other anticoagulants, such as direct oral anticoagulants (DOACs). We describe a case of a woman in her 50s with a background history of mitral valve replacement who was on warfarin and admitted for AKI, haematuria and a supratherapeutic international normalised ratio (INR) level. A renal biopsy showed red cell casts in the renal tubules, and a diagnosis of ARN was made. Her treatment included the temporary withdrawal of warfarin. Her renal function improved, and warfarin was restarted before she was discharged. This case highlights the importance of maintaining a high clinical suspicion when diagnosing ARN in patients who present with AKI and supratherapeutic INR levels.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708078","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
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