BMJ Case Reports最新文献_第8页

Abrupt decrease in haemoglobin A1C as the first hint of autoimmune haemolytic anaemia. 糖化血红蛋白突然降低是自身免疫性溶血性贫血的第一个提示。

IF 0.6

BMJ Case Reports Pub Date : 2025-07-03 DOI: 10.1136/bcr-2025-265575

Daniel Boctor, Marina Heskel, Andrew D Leavitt, Janet N Chu

引用次数: 0

Male sex reversal syndrome: a disorder of sexual differentiation (DSD) with infertility. 男性性反转综合征：一种伴不孕症的性分化障碍。

IF 0.6

BMJ Case Reports Pub Date : 2025-07-03 DOI: 10.1136/bcr-2025-265767

Namita Bellad, Radha Vembu, Monna Pandurangi, N Sanjeeva Reddy

{"title":"Male sex reversal syndrome: a disorder of sexual differentiation (DSD) with infertility.","authors":"Namita Bellad, Radha Vembu, Monna Pandurangi, N Sanjeeva Reddy","doi":"10.1136/bcr-2025-265767","DOIUrl":"10.1136/bcr-2025-265767","url":null,"abstract":"46,XX male sex reversal syndrome is a rare genetic disorder where individuals with a 46,XX karyotype present with male phenotypic characteristics despite the absence of an Y chromosome. We report a case of a male in his early 30s, presenting with infertility and azoospermia, with bilateral small testes, but no other sexual dysfunction or any signs of hypovirulisation. His hormonal evaluation revealed hypogonadism with normal gonadotropin levels. Genetic testing showed a 46,XX karyotype with the presence of the sex-determining region on the Y chromosome (SRY) gene and microdeletions in the azoospermia factor region, confirming the diagnosis of SRY-positive 46,XX male sex reversal syndrome. As sperm retrieval was not recommended, the couple pursued donor insemination, resulting in conception during the first cycle. The female partner is now in her third trimester of pregnancy. Testosterone replacement therapy was initiated for hypogonadism, and long-term follow-up was recommended for monitoring therapy and neoplastic risk. This case intends to provide an overview focused on improving diagnostic and management strategies for 46,XX male sex reversal syndrome, emphasising the necessity of genetic evaluation for all patients with hypogonadism and azoospermia presenting with infertility, not limited to those with hypergonadotropic hypogonadism. It also highlights the critical role of a multidisciplinary approach in the effective management of this condition.","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144564349","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

Multiday intravenous ketamine infusion therapy for the management of central sensitisation syndrome secondary to chronic chemotherapy-induced peripheral neuropathic pain. 多天静脉氯胺酮输注治疗慢性化疗引起的周围神经性疼痛继发的中枢致敏综合征。

IF 0.6

BMJ Case Reports Pub Date : 2025-07-03 DOI: 10.1136/bcr-2025-265205

Mohammad Abdullah, May C Ong

{"title":"Multiday intravenous ketamine infusion therapy for the management of central sensitisation syndrome secondary to chronic chemotherapy-induced peripheral neuropathic pain.","authors":"Mohammad Abdullah, May C Ong","doi":"10.1136/bcr-2025-265205","DOIUrl":"10.1136/bcr-2025-265205","url":null,"abstract":"Ketamine infusion therapy is increasingly being used as an effective treatment for chronic pain syndromes, including central sensitisation syndrome (CSS) or nociplastic pain. On the contrary, chemotherapy-induced peripheral neuropathy (CIPN) is a common but poorly understood condition arising secondary to cancer treatment complications, which poses significant challenges in its management due to limited therapeutic options. We present a case of a man in his 60s with chronic CIPN, later complicated by CSS and post-COVID-19 symptoms treated with a multiday subanaesthetic ketamine infusion, resulting in a clinically significant and sustained long-term improvement in function and pain control, for pain due to CSS and CIPN.This case highlights the use of multiday ketamine infusion therapy for the management of CSS and post-COVID-19 symptoms in a patient with well-documented severe treatment refractory CIPN. It demonstrates the growing evidence for ketamine as an analgesic agent for chronic pain, with potential considerations to expand its use for other indications. His response to ketamine infusion may implicate the possibility of a unifying mechanism in patients with nociplastic pain or CSS, post- COVID-19 symptoms and chronic CIPN.","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12230284/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144564350","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

Long-term radiographic stability of diffuse pulmonary meningotheliomatosis. 弥漫性肺脑膜瘤病的长期影像学稳定性。

IF 0.6

BMJ Case Reports Pub Date : 2025-07-03 DOI: 10.1136/bcr-2025-266423

Danielle Victoria Lefebvre, Saihariharan Nedunchezhian, Rohan Srivastava, Ivana Milojevic

引用次数: 0

Clival osteomyelitis as a rare complication of paediatric melioidosis. 斜坡骨髓炎是小儿类鼻疽症的罕见并发症。

IF 0.6

BMJ Case Reports Pub Date : 2025-07-01 DOI: 10.1136/bcr-2025-266603

Nicole Phing Jie Hoo, Sin Toun Loh, Ann Li Lo, David Chun-Ern Ng

引用次数: 0

Paediatric IgG4-related disease manifesting as recurrent pleural effusion. 以反复胸腔积液为表现的儿科igg4相关疾病。

IF 0.6

BMJ Case Reports Pub Date : 2025-07-01 DOI: 10.1136/bcr-2025-265486

Umaserma Bharathi, Padmasani Venkat Ramanan, Shwetha Amuthan, Vasugi Arumugam Gramani

引用次数: 0

Combined cellular and antibody-mediated rejection of orthotopic heart transplant following influenza A infection. 甲型流感感染后原位心脏移植的细胞和抗体联合介导的排斥反应。

IF 0.6

BMJ Case Reports Pub Date : 2025-07-01 DOI: 10.1136/bcr-2025-265384

Joseph Crowder, Jeffrey F Spindel, Nathan Shelman, Vasilios Katsadouros, Andrew Kolodziej

{"title":"Combined cellular and antibody-mediated rejection of orthotopic heart transplant following influenza A infection.","authors":"Joseph Crowder, Jeffrey F Spindel, Nathan Shelman, Vasilios Katsadouros, Andrew Kolodziej","doi":"10.1136/bcr-2025-265384","DOIUrl":"https://doi.org/10.1136/bcr-2025-265384","url":null,"abstract":"Viral infections have been associated with acute allograft rejection in solid organ transplant recipients. Influenza infection upregulates host proinflammatory cytokines, suggesting the host immune response can precipitate graft rejection. Pandemic influenza, specifically, was associated with rejection in multiple renal allograft recipients. However, cardiac allograft rejection has not been reported in association with endemic influenza. We present the case of a man in his mid-30s, transplanted 5 years prior, who developed new heart failure 4 weeks after PCR-confirmed influenza A infection. Endomyocardial biopsy revealed concomitant high-grade acute cellular rejection and antibody-mediated rejection. Despite a pretransplant panel reactive antibody of 0%, a negative virtual crossmatch and consistently therapeutic tacrolimus levels, de novo donor-specific antibodies developed. Even with aggressive therapy, he died as a result of graft failure. Transplant recipients must be regularly vaccinated, and clinicians should maintain a high degree of suspicion of graft failure in the immediate aftermath of influenza infection.","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144538506","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

Peritonitis due to ruptured adnexal abscess seven years post tubal ligation. 输卵管结扎术后7年附件脓肿破裂所致腹膜炎。

IF 0.6

BMJ Case Reports Pub Date : 2025-07-01 DOI: 10.1136/bcr-2025-265702

Ranoji V Shinde, Pradeep Kumar, Karthik G, Venkiteswaran Muralidhar

引用次数: 0

Perianal Paget's disease: an isolated extramammary manifestation of Paget's. 肛周佩吉特病：一种孤立的佩吉特病乳腺外表现。

IF 0.6

BMJ Case Reports Pub Date : 2025-07-01 DOI: 10.1136/bcr-2024-264532

Sanele Dean Lia, Preekesh Patel, Yee Chen Lau

引用次数: 0

Gossypiboma: the hidden surgical threat - delayed diagnosis and management. 棉鞘瘤：手术的潜在威胁——延误诊断和治疗。