发布求助
文献互助 智能选刊 最新文献

BMJ Case Reports最新文献

筛选
英文 中文
Corneoscleral plaque brachytherapy using 'BARC I-125 Ocu-Prosta seeds' in the management of iridociliary melanoma. 使用“BARC I-125 Ocu-Prosta种子”的角膜巩膜斑块近距离治疗虹膜睫状体黑色素瘤
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2023-255721
Ujjwal Prakash Jha, Subina Narang, Varsha Jindal
{"title":"Corneoscleral plaque brachytherapy using 'BARC I-125 Ocu-Prosta seeds' in the management of iridociliary melanoma.","authors":"Ujjwal Prakash Jha, Subina Narang, Varsha Jindal","doi":"10.1136/bcr-2023-255721","DOIUrl":"https://doi.org/10.1136/bcr-2023-255721","url":null,"abstract":"<p><p>We present the case of a woman in her late 40s who presented with an iris lesion extending to the ciliary body and mature white cataract with a visual acuity of perception of light in her right eye. The tumour was managed with Bhabha Atomic Research Centre Iodine-125 (BARC I-125) Ocu-Prosta seeds plaque therapy with the amniotic membrane buffer technique. No corneal complications or secondary glaucoma were seen over a 6-month follow-up, and a reduction in tumour size was observed on MRI. Ten months post corneoscleral plaque brachytherapy (PB), the patient underwent phacoemulsification in the same eye and achieved a best corrected visual acuity of 20/40. This case highlights the use of cost-effective indigenous I-125 Ocu-Prosta seeds with amniotic membrane in the successful management of iridociliary melanoma, which has not been reported so far.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156772","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
Congenital microphthalmos with orbital dermoid cyst extending to frontal sinus. 先天性小眼伴眼眶皮样囊肿，并延伸至额窦。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2025-265641
Abid Majeed Rather, Bijnya Birajita Panda, Alok Kumar Sethi, Ashok Kumar Jena
{"title":"Congenital microphthalmos with orbital dermoid cyst extending to frontal sinus.","authors":"Abid Majeed Rather, Bijnya Birajita Panda, Alok Kumar Sethi, Ashok Kumar Jena","doi":"10.1136/bcr-2025-265641","DOIUrl":"https://doi.org/10.1136/bcr-2025-265641","url":null,"abstract":"<p><p>A child presented with a chronic mucus discharging fistula from a mass over the right eyelid. There was a diagnostic dilemma about the mucus discharge from the mass which was probably thought to be secreted from the frontal sinus. The lesion caused a noticeable swelling in the eyelid with potential implications for surrounding structures. During surgical exploration, a large dermoid cyst was found occupying the entire orbit and extending into the frontal sinus, which was then thoroughly curetted and packed with fat to prevent recurrence and maintain structural integrity. On further exploration, a very rudimentary globe with a small optic nerve stump was discovered during the surgery, which was enucleated and socket reconstruction was performed with dermis-fat graft. The patient had a smooth postoperative recovery with good cosmetic results and no signs of recurrence or complications.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156760","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
Live birth in a twin pregnancy with a complete hydatidiform mole and a coexisting normal fetus. 活产双胎妊娠，有完整的葡萄胎和共存的正常胎儿。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2025-265023
Fozia Khan, Mohamed A Maher, Kumar Kumarendran, Sathya Parthasarathy
{"title":"Live birth in a twin pregnancy with a complete hydatidiform mole and a coexisting normal fetus.","authors":"Fozia Khan, Mohamed A Maher, Kumar Kumarendran, Sathya Parthasarathy","doi":"10.1136/bcr-2025-265023","DOIUrl":"https://doi.org/10.1136/bcr-2025-265023","url":null,"abstract":"<p><p>Co-presentation of complete mole with live pregnancy is very rare, few cases with live birth were reported. The diagnosis requires a high index of suspicion, which is important to set the management plan antenatal, intrapartum, postnatal and neonatal.Our patient conceived during follow-up for previous partial molar pregnancy. Early pregnancy scan showed a gestational sac with cystic spaces. Ultrasound scans by fetal medicine specialists revealed a normally developing fetus with partly multicystic placenta. She was delivered by caesarean section at 31 weeks due to abdominal pain and increasing size of the theca lutein cysts. Placental histology and cytogenetics confirmed the diagnosis. Further course of care was uneventful.Incidence of the above-mentioned condition is 1 in 20 000 to 100 000. This is a high-risk pregnancy with multiple maternal, fetal and neonatal complications. The suggested management plan involves a multidisciplinary team and individualised care with close maternal and fetal monitoring.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156808","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 finding of right radius tuberculosis. 罕见的右桡骨结核。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2024-263401
Kshitij Bhardwaj, Shiraz Syed, Syed Mushtaq Ahmad
{"title":"Rare finding of right radius tuberculosis.","authors":"Kshitij Bhardwaj, Shiraz Syed, Syed Mushtaq Ahmad","doi":"10.1136/bcr-2024-263401","DOIUrl":"10.1136/bcr-2024-263401","url":null,"abstract":"<p><p>We report a case of a patient in his early 20s who attended a rural charitable clinic with persistent right wrist pain for almost 2 months. Due to the absence of any systemic symptoms, the patient relied on self-medication with analgesics and did not seek medical evaluation during this period. Subsequent imaging of the right wrist revealed a well-defined lytic lesion in the styloid process of the radius. Histopathological analysis confirmed granulomatous inflammation, and further microbiological culture confirmed <i>Mycobacterium tuberculosis</i> The patient was started on antitubercular treatment which resulted in significant clinical improvement. Osteoarticular tuberculosis (TB) of the radius is rare, and this case highlights the importance of maintaining a high index of suspicion for rare sites of osteoarticular TB in endemic regions, even in the absence of classical constitutional symptoms.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156888","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
Antenatal presentations of congenital sideroblastic anaemia as severe fetal anaemia. 先天性铁母细胞贫血的产前表现为严重的胎儿贫血。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2023-257172
Kelly Ng, Michelle Rougerie, Daniel Lorber Rolnik
{"title":"Antenatal presentations of congenital sideroblastic anaemia as severe fetal anaemia.","authors":"Kelly Ng, Michelle Rougerie, Daniel Lorber Rolnik","doi":"10.1136/bcr-2023-257172","DOIUrl":"https://doi.org/10.1136/bcr-2023-257172","url":null,"abstract":"<p><p>Severe fetal anaemia of unknown aetiology can present a diagnostic challenge. Rare causes of fetal anaemia include congenital sideroblastic anaemia (CSA), a rare group of disorders that typically manifest during infancy and early childhood. This case report describes three pregnancies complicated by CSA presenting antenatally in the same woman. The index case was a twin pregnancy in which both neonates were born severely anaemic with one surviving twin. The subsequent cases of severe fetal anaemia were detected during pregnancy and successfully managed with intrauterine blood transfusions (IUTs). The three surviving children required several neonatal transfusions and were later diagnosed with CSA. To our knowledge, this is the first case report describing CSA presenting in the antenatal period with surviving patients and thereby highlights the importance of considering fetal anaemia early in pregnancy and the potential for early intervention with IUTs to improve survival outcomes in this group of patients.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156721","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 diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a Vietnamese adolescent male presenting with hypotension. 延迟诊断自身免疫性多内分泌病-念珠菌病-外胚层营养不良（APECED）在越南青少年男性低血压表现。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2025-264874
Binh Thanh Le, Tien Quoc Nguyen, Cam Thao Nguyen, Anh Xuan Nguyen, Cuong Minh Duong
{"title":"Delayed diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a Vietnamese adolescent male presenting with hypotension.","authors":"Binh Thanh Le, Tien Quoc Nguyen, Cam Thao Nguyen, Anh Xuan Nguyen, Cuong Minh Duong","doi":"10.1136/bcr-2025-264874","DOIUrl":"https://doi.org/10.1136/bcr-2025-264874","url":null,"abstract":"<p><p>Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), known as autoimmune polyglandular syndrome type 1, has largely been described in patients of European origin. APECED is a rare condition caused by mutations in the autoimmune regulator (<i>AIRE</i>) gene. We report the first case of APECED in a Vietnamese boy who presented with hypotension due to adrenal crisis leading to the accidental diagnosis of APECED. His clinical manifestations were typical, with mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. DNA sequencing showed homozygosity for the c.769C>T variant, which is one of the most common variants of the <i>AIRE</i> gene. His symptoms improved with adrenal hormone replacement therapy, calcitriol and calcium supplements for hypoparathyroidism and oral fluconazole for onychomycosis. Given that APECED is easily misdiagnosed due to its rarity in Asian population and other non-Europeans, leading to overlooked life-threatening complications, paediatricians should be aware of APECED in patients from these populations presenting with unexplained hypotension associated with mucocutaneous candidiasis or any endocrinopathy manifestation.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156777","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
Hyperosmolar non-ketotic hyperglycaemic hemichorea as a presentation of diabetic striatopathy: importance of early recognition. 高渗性非酮症高血糖血凝症是糖尿病纹状体病的表现：早期识别的重要性。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2024-264410
Nikolay Dementyev, Davide E A Moro, Martial Coutaz
{"title":"Hyperosmolar non-ketotic hyperglycaemic hemichorea as a presentation of diabetic striatopathy: importance of early recognition.","authors":"Nikolay Dementyev, Davide E A Moro, Martial Coutaz","doi":"10.1136/bcr-2024-264410","DOIUrl":"https://doi.org/10.1136/bcr-2024-264410","url":null,"abstract":"<p><p>Diabetic striatopathy (DS) is a rare neurological complication of hyperglycaemia. It is typically diagnosed when high blood glucose levels are accompanied by abnormal movements and/or characteristic findings on neuroimaging. We describe a rare case of DS with progressive hemichorea, distinctive MRI findings and non-ketotic hyperglycaemia. After 2 weeks of optimal glycaemic control combined with antichorea medications, as well as additional treatments for DS-associated comorbidities, the patient's condition improved significantly. This case underscores the importance of measuring blood glucose in patients presenting with involuntary movements.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156805","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
Mycoplasma pneumoniae infection complicated by autoimmune haemolytic anaemia (AIHA) and focal seizures in a paediatric patient. 小儿肺炎支原体感染合并自身免疫性溶血性贫血（AIHA）和局灶性癫痫。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2025-265562
Jignesh Patel, Sophie Schuelke, Sarah Lutes
{"title":"<i>Mycoplasma pneumoniae</i> infection complicated by autoimmune haemolytic anaemia (AIHA) and focal seizures in a paediatric patient.","authors":"Jignesh Patel, Sophie Schuelke, Sarah Lutes","doi":"10.1136/bcr-2025-265562","DOIUrl":"10.1136/bcr-2025-265562","url":null,"abstract":"<p><p><i>Mycoplasma pneumoniae</i> commonly causes atypical pneumonia with mild symptoms such as cough, fever and general malaise. However, it can be associated with more severe extrapulmonary manifestations affecting the cardiovascular, neurological and haematological systems. We report the case of a female toddler with mycoplasma pneumonia, initially presenting with typical symptoms such as cough and fever. The course of infection was later complicated by autoimmune haemolytic anaemia (AIHA) and focal seizures. The patient responded to treatment with intravenous azithromycin and ceftriaxone. This case highlights the importance of promptly recognising and treating more severe and less common manifestations of <i>M. pneumoniae</i> infection.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156715","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
High maternal serum thyroid-stimulating hormone receptor antibodies with fetal and neonatal thyrotoxicosis after total thyroidectomy for Graves' disease. 格雷夫斯病全甲状腺切除术后孕妇血清促甲状腺激素受体抗体高伴胎儿和新生儿甲状腺毒症
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2024-264047
Johnbosco Emmanuel Mamah, Hannah Law, Sarah Prince, Charles Bodmer
{"title":"High maternal serum thyroid-stimulating hormone receptor antibodies with fetal and neonatal thyrotoxicosis after total thyroidectomy for Graves' disease.","authors":"Johnbosco Emmanuel Mamah, Hannah Law, Sarah Prince, Charles Bodmer","doi":"10.1136/bcr-2024-264047","DOIUrl":"10.1136/bcr-2024-264047","url":null,"abstract":"<p><p>High thyroid-stimulating hormone receptor antibodies (TSHRAbs) during pregnancy pose clinical challenges, especially for women with a history of thyroidectomy or radioactive iodine therapy. We report a pregnant woman in her 30s with a history of Graves' disease, managed by total thyroidectomy and thyroid replacement therapy 10 years before presentation. Despite lacking a thyroid gland, she had elevated levels of TSHRAb early in her pregnancy. The fetus experienced early-onset intrauterine growth restriction; at 31 weeks gestation, demonstrated signs of thyrotoxicosis, including persistent abnormal fetal umbilical artery Doppler, fetal tachycardia and goitre observed during growth ultrasound scans. Initially, the patient was managed with antithyroid medications but required delivery at 34 weeks gestation due to deteriorating fetal health. This case illustrates that some pregnant women with previously treated Graves' disease may have persistently high levels of TSHRAb, which could cross the placenta to the fetus and result in fetal thyrotoxicosis requiring preterm delivery.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156839","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
Clinical-electroretinography mismatch in a patient with non-syndromic BBS1-associated retinal degeneration. 非综合征性bbs1相关视网膜变性患者的临床-视网膜电图不匹配
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2025-264886
Mariana Ferreira Francisco, Miguel Raimundo, Ana Luísa Carvalho, João Pedro Marques
{"title":"Clinical-electroretinography mismatch in a patient with non-syndromic <i>BBS1</i>-associated retinal degeneration.","authors":"Mariana Ferreira Francisco, Miguel Raimundo, Ana Luísa Carvalho, João Pedro Marques","doi":"10.1136/bcr-2025-264886","DOIUrl":"https://doi.org/10.1136/bcr-2025-264886","url":null,"abstract":"<p><p>A male patient in his late thirties, homozygous for the M390R <i>Bardet-Biedl Syndrome-1 (BBS1</i>) variant, began follow-up in early adulthood, due to decreased visual acuity and photophobia. Fundus examination showed bilateral temporal wedge-shaped pallor of the optic disc and atrophic maculopathy, translating into central hypoautofluorescence on fundus autofluorescence. Even though clinical and multimodal imaging features suggested cone-dominant degeneration, electroretinography (ERG) showed reduced scotopic and photopic responses, with greater scotopic impairment. Despite a thorough systemic evaluation and long-term follow-up, no other features of BBS were found. To our knowledge, this is the first documented case of non-syndromic <i>BBS1</i>-associated disease with a rod-cone dystrophy phenotype on ERG and a clinical presentation (symptoms and imaging features) of cone-dominant disease. The discrepancy between clinical/imaging and ERG findings reflects the complexity of <i>BBS1</i>-related disease and highlights the crucial role of genetic testing and comprehensive phenotyping in inherited retinal disorders.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156756","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
首页 上一页 下一页 尾页
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整，为了账户安全，请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们：info@booksci.cn Book学术提供免费学术资源搜索服务，方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号：481959085
Book学术官方微信