Unravelling VEXAS syndrome: shedding light on a recently recognised medical condition [0.03%]
解开VEXAS综合征之谜：一种新认识的医学状况不容小觑
Syeda Sarah Raza,Abdullah Ahmad Orakzai,Ahmed Salman et al.
Syeda Sarah Raza et al.
This case report underscores the importance of interdisciplinary collaboration, heightened awareness and personalised strategies in managing VEXAS syndrome.
Case Reports
BMJ case reports. 2025 Jun 10;18(6):e263248. DOI:10.1136/bcr-2024-263248 2025
Challenges in managing Stewart-Treves Syndrome: navigating complexities in recurrent lymphangiosarcoma [0.03%]
斯特沃兹综合征的管理挑战：反复出现的淋巴血管肉瘤的复杂性应对
Tanvi Rao,Joseph Thomas,Harshavardhan Kushal Shetty et al.
Tanvi Rao et al.
This case report highlights the surgical challenges faced in managing lymphangiosarcoma.We present a case of a woman in her 60s who underwent modified radical mastectomy and adjuvant therapy for breast carcinoma.
Case Reports
BMJ case reports. 2025 Jun 10;18(6):e264152. DOI:10.1136/bcr-2024-264152 2025
A Case Report of Primary Ovarian Failure in an Adolescent Associated with a Homozygous Pathogenic Variant in the Mitochondrial Poly-A-Polymerase Gene (MTPAP) [0.03%]
青春期女性原发性卵巢功能不全一例及其线粒体多聚腺苷酸聚合酶基因(MTPAP)纯合致病突变的报道
Jessy Epstein,Simrat Veera,John Pappas et al.
Jessy Epstein et al.
Background: Primary ovarian insufficiency (POI) is ovarian dysfunction that leads to suboptimal estrogen production and irregular or absent menses. Many causes of POI are idiopathic. Genetic testing may help identify nove...
Ramiro Vargas Aignasse,Rodrigo Antonio Gasque,Germán Rodrigo Viscido et al.
Ramiro Vargas Aignasse et al.
Introduction: Low phospholipid-associated cholelithiasis (LPAC) syndrome is a rare biliary disorder caused by mutations in the ABCB4 gene, which encodes the MDR3 phosphatidylcholine transporter. It primarily affects young...
Laparoscopic cholecystectomy for duplication of the gallbladder: A case report [0.03%]
胆囊双发畸形行腹腔镜胆囊切除术1例报告
Yuntian Liu,Xusheng Yang,Lu Liang et al.
Yuntian Liu et al.
Introduction: Gallbladder duplication is a rare anomaly among clinical gallbladder diseases, with an incidence of approximately 1: 4000 worldwide. Abnormal embryonic development can lead to gallbladder duplication and alt...
A rare case report of first-trimester intestinal obstruction masquerading as ectopic pregnancy: Insights from a low-resource setting [0.03%]
一例罕见的以异位妊娠为表现形式的第一孕期肠梗阻病例报告：来自医疗资源匮乏地区的启示
John Lugata,Laetitia Makower,Bariza Hita et al.
John Lugata et al.
Clinical discussion: This case report highlights the rarity of intestinal obstruction during pregnancy and the diagnostic challenges it presents. Our case is particularly unique due to the absence of previous abdominal surgery and presentation so early in gestation.
A case report [0.03%]
腰椎血管性脑膜瘤的诊治：一例报道
Soumya El Graini,Ibrahima Diallo Dokal,Sara El Ghaffouli et al.
Soumya El Graini et al.
Introduction: Spinal meningiomas (SM) are rare intradural extramedullary tumors arising from arachnoid cells of the leptomeninges. They are most commonly found in the thoracic region, with angiomatous subtypes being even ...
Case report of incidental and asymptomatic appendiceal cavernous hemangioma [0.03%]
偶然和无症状的阑尾海绵状血管瘤病例报告
Mislav Rakić,Mario Soldo,Ante Šabić et al.
Mislav Rakić et al.
Introduction: Appendix hemangiomas are extremely rare - only a few reported cases exist in published literature. Case presentation: Her...
An unusual congenital perianal swelling and its associated anomaly in a neonate - a case report [0.03%]
新生儿会阴部肿物的病例报告及罕见畸形
Jayalaxmi Shripati Aihole
Jayalaxmi Shripati Aihole
Introduction and importance: Lipoma is a benign mesenchymal tumour especially noted in adults, adolescents including older age groups. Generally, 1 to 2 % of the population is affected by lipomas, including superficial to...
Lana Sayal,Anas Abdo,Hasan Alhouri et al.
Lana Sayal et al.
Introduction: In the era of precision medicine, cell-free DNA (cfDNA) in saliva biopsies has emerged as a promising tool for cancer detection. The effects of D-loop variants, including D310, and circulating cell-free DNA ...
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