Oxford Medical Case Reports最新文献_第3页

Rapid response to high-dose Anakinra in refractory SLE-associated Haemophagocytic Lymphohistiocytosis: a case report. 高剂量阿那白对难治性slea相关的噬血细胞淋巴组织细胞增多症的快速反应：1例报告。

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-09-25 eCollection Date: 2026-09-01 DOI: 10.1093/omcr/omag130

S Jain, N Soe, K Sandhu, J McNally

{"title":"Rapid response to high-dose Anakinra in refractory SLE-associated Haemophagocytic Lymphohistiocytosis: a case report.","authors":"S Jain, N Soe, K Sandhu, J McNally","doi":"10.1093/omcr/omag130","DOIUrl":"https://doi.org/10.1093/omcr/omag130","url":null,"abstract":"Haemophagocytic Lymphohistiocytosis (HLH) causes life-threatening hyperinflammation and has conventionally been treated with glucocorticoids plus additional immunosuppression such as ciclosporin and anakinra. We describe the case of a 47-year-old female who presented to a DGH with HLH secondary to both Systemic Lupus Erythematosus (SLE) and Covid infection. Her disease relapsed despite an initial response to first-line treatment including glucocorticoids, ciclosporin, intravenous immunoglobulins (IVIG) and conventional doses of anakinra. She subsequently responded to a higher dose of anakinra, resulting in sustained remission. This case illustrates the potentially life-saving difference between conventional and higher anakinra doses in severe HLH- an observation that is consistent with other reported cases of HLH with different triggers. We argue, therefore, for high-dose anakinra to be used first-line in refractory HLH, given the high mortality of the disease, while also carefully monitoring for infections post-interleukin-1-blockade. This adds weight to the shifting national treatment paradigm in this direction.","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2026 9","pages":"omag130"},"PeriodicalIF":0.6,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13612240/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149065031","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

Normal neuroimaging in an infant with SUCLA2-related mitochondrial DNA depletion syndrome type 5: a case report of likely pathogenic variant. 新生儿sucl2相关线粒体DNA缺失综合征5型的正常神经影像学：可能的致病变异1例报告

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-09-14 eCollection Date: 2026-09-01 DOI: 10.1093/omcr/omag172

Mohammad Obada Alsadi, Youssef Heikal, Farah Al-Hasani, Dana Al Khasawneh, Aia Nasab, Heba Hrizat, Fatema Almoustafa, Barah Hussain

{"title":"Normal neuroimaging in an infant with SUCLA2-related mitochondrial DNA depletion syndrome type 5: a case report of likely pathogenic variant.","authors":"Mohammad Obada Alsadi, Youssef Heikal, Farah Al-Hasani, Dana Al Khasawneh, Aia Nasab, Heba Hrizat, Fatema Almoustafa, Barah Hussain","doi":"10.1093/omcr/omag172","DOIUrl":"10.1093/omcr/omag172","url":null,"abstract":"Mitochondrial DNA depletion syndrome type 5 (MTDPS5), caused by SUCLA2 mutations, is a rare autosomal recessive disorder manifesting as early-onset encephalomyopathy. Clinical diagnosis is challenging due to phenotypic overlap and potentially unremarkable early investigations. We report a male infant of consanguineous parents who presented with progressive hypotonia, global developmental delay, and involuntary nocturnal movements at 3 months. Despite an unremarkable newborn metabolic screen and normal initial brain MRI, the patient demonstrated a significant failure to achieve age-appropriate gross motor milestones, including independent sitting and crawling, by 12 months. Whole-exome sequencing (WES) definitively identified a homozygous likely pathogenic SUCLA2 variant (p.Met329Val). Following the initiation of a mitochondrial cocktail, the patient showed substantial clinical improvement. This case emphasizes that MTDPS5 should be considered in infants with unexplained encephalomyopathy, even when initial findings are normal, underscoring the necessity of early WES to guide clinical management.","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2026 9","pages":"omag172"},"PeriodicalIF":0.6,"publicationDate":"2026-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13574277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148971538","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

Recognizing thrombotic thrombocytopenic purpura beyond the pentad. 认识血栓性血小板减少性紫癜超越了pentad。

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-09-14 eCollection Date: 2026-09-01 DOI: 10.1093/omcr/omag168

Olivia M Pupiec, Julie R Levin, Christopher N Cooley, Diane Paratore

引用次数: 0

Gallbladder cancer presenting with a single giant common bile duct stone in a patient with normal cholestatic function tests: a case report. 胆囊癌表现为单个巨大的胆总管结石患者的胆阻功能检查正常：1例报告。

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-09-14 eCollection Date: 2026-09-01 DOI: 10.1093/omcr/omag173

Yitagesu Aberra Shibiru, Shimelis Nigussie, Amanuel Yegnanew, Dawit Dagne Moges

引用次数: 0

Sevelamer carbonate crystal associated colitis in a hemodialysis patient: a case report. 血液透析患者舍维拉默碳酸盐岩晶体相关性结肠炎1例报告。

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-09-14 eCollection Date: 2026-09-01 DOI: 10.1093/omcr/omag175

Omair Bseiso, Ma'moun Qawasmeh, Anas Zahdeh, Obay Isayed, Abrar Omari, Motaz Natsheh

{"title":"Sevelamer carbonate crystal associated colitis in a hemodialysis patient: a case report.","authors":"Omair Bseiso, Ma'moun Qawasmeh, Anas Zahdeh, Obay Isayed, Abrar Omari, Motaz Natsheh","doi":"10.1093/omcr/omag175","DOIUrl":"10.1093/omcr/omag175","url":null,"abstract":"Sevelamer carbonate, a non-calcium phosphate binder widely used in end-stage renal disease (ESRD), is an increasingly recognized but underdiagnosed cause of medication-induced colitis through gastrointestinal crystal deposition. We report a 56-year-old Palestinian male with ESRD on hemodialysis who presented with a one-month history of watery non-bloody diarrhea, vomiting, and diffuse abdominal pain. He had been repeatedly misdiagnosed with amebic colitis and treated with metronidazole without improvement. Colonoscopy revealed diffuse patchy erythema throughout the colon with right-sided predominance. Histopathology confirmed sevelamer-induced active colitis, demonstrating characteristic brownish fish scale-like crystals with active neutrophilic infiltrate. Sevelamer carbonate was discontinued with subsequent clinical improvement. This case highlights a clinically important diagnostic pitfall in resource-limited settings where amebic colitis is endemic and empiric metronidazole is commonly the first-line response to chronic diarrhea in dialysis patients.","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2026 9","pages":"omag175"},"PeriodicalIF":0.6,"publicationDate":"2026-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13574273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148971707","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

Endoscopic submucosal dissection for a colorectal tumor with coexisting muscle-retracting sign and underlying diverticulum: the first reported case. 内镜下粘膜下剥离术治疗伴有肌肉收缩征及憩室的结直肠肿瘤：首例报道。

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-09-08 eCollection Date: 2026-09-01 DOI: 10.1093/omcr/omag169

Taiji Yoshimoto, Daisuke Matsuyama, Ayaka Nakanishi, Kei Nakatani, Kosuke Nagakura, Hiroo Ishii, Hiroshi Takihara

{"title":"Endoscopic submucosal dissection for a colorectal tumor with coexisting muscle-retracting sign and underlying diverticulum: the first reported case.","authors":"Taiji Yoshimoto, Daisuke Matsuyama, Ayaka Nakanishi, Kei Nakatani, Kosuke Nagakura, Hiroo Ishii, Hiroshi Takihara","doi":"10.1093/omcr/omag169","DOIUrl":"10.1093/omcr/omag169","url":null,"abstract":"Endoscopic submucosal dissection (ESD) for colorectal lesions becomes particularly challenging in the presence of the muscle-retracting sign (MRS), and the risk of perforation is further increased when a diverticulum underlies the lesion. We report a case of ESD for a 25-mm Paris type 0-Is tumor in the sigmoid colon surrounded by multiple diverticula. During ESD, a broad MRS obscured the appropriate submucosal plane. Careful dissection revealed a diverticulum directly beneath the lesion, indicating a focal defect of the muscularis propria. Subsequently, an intraoperative perforation occurred but was immediately detected and successfully closed using endoscopic clips, allowing completion of en bloc resection. Postoperative computed tomography demonstrated minimal free air, and the patient recovered uneventfully with conservative management. This case highlights that even in an extremely high-risk situation involving both an MRS and an underlying diverticulum, careful dissection and prompt endoscopic closure may avoid surgery and achieve curative resection.","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2026 9","pages":"omag169"},"PeriodicalIF":0.6,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13553002/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148913794","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

Selective cTACE to a segment target hepatocellular carcinoma lesion during atezolizumab plus bevacizumab therapy achieving delayed hypovascularization and shrinkage of non-target intrahepatic lesions: a case report. 在阿特唑单抗加贝伐单抗治疗期间，选择性cace治疗肝细胞癌病变，实现延迟低血管化和非靶向肝内病变缩小：一个病例报告。

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-09-08 eCollection Date: 2026-09-01 DOI: 10.1093/omcr/omag171

Hidenobu Hara, Hiroaki Matsumoto, Ami Yoshinaga, Hikari Ishii, Kei Onodera, Yoko Henta, Risa Katsumata, Ryosuke Fujii, Harujiro Yamamoto, Tomohisa Ashikawa, Kazuomi Sakaki, Shiori Ito, Takehito Asakawa, Kohei Yoshino, Shinya Sakita

{"title":"Selective cTACE to a segment target hepatocellular carcinoma lesion during atezolizumab plus bevacizumab therapy achieving delayed hypovascularization and shrinkage of non-target intrahepatic lesions: a case report.","authors":"Hidenobu Hara, Hiroaki Matsumoto, Ami Yoshinaga, Hikari Ishii, Kei Onodera, Yoko Henta, Risa Katsumata, Ryosuke Fujii, Harujiro Yamamoto, Tomohisa Ashikawa, Kazuomi Sakaki, Shiori Ito, Takehito Asakawa, Kohei Yoshino, Shinya Sakita","doi":"10.1093/omcr/omag171","DOIUrl":"10.1093/omcr/omag171","url":null,"abstract":"Atezolizumab plus bevacizumab (Atez/Bev) is the standard first-line systemic therapy for unresectable hepatocellular carcinoma (HCC). We report HCC with intrahepatic progression during Atez/Bev in which selective conventional transarterial chemoembolization (cTACE) to a single lesion was followed by non-target lesion shrinkage. An 82-year-old woman with metabolic dysfunction-associated steatotic liver disease was diagnosed with BCLC stage B hepatocellular carcinoma in segments 5/7. After TACE, residual viable tumor persisted in segment 5, and Atez/Bev was initiated. After 4 cycles, a new intrahepatic lesion appeared in segment 8, and after 7 cycles, lesions in segments 5/7/8 enlarged, meeting the mRECIST progressive disease criteria. Systemic therapy continued, and selective cTACE for the segment 5 lesion was added. At 3 months post-cTACE, segment 5 viability decreased, but overall mRECIST remained progressive disease. At 6 months (November 20XX + 1), arterial enhancement in segment 5 resolved and non-target segment 7/8 lesions became hypovascular and shrank, achieving partial response.","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2026 9","pages":"omag171"},"PeriodicalIF":0.6,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13553004/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148913780","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

Co-amoxicillin-induced reactivation of auto-brewery syndrome in a patient treated for community acquired pneumonia: a clinical case report. 社区获得性肺炎患者阿莫西林诱导的自动酿酒综合征再激活：临床病例报告。

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-09-08 eCollection Date: 2026-09-01 DOI: 10.1093/omcr/omag167

Philipp Widmer, Flavia A Miesch, Barbara Scotti, Gian Erni, Roland Sperb

引用次数: 0

A jaw-dropping complication of Epilepsia Partialis continua following Opercular seizure. 一种令人瞠目结舌的持续部分性癫痫的并发症。

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-09-08 eCollection Date: 2026-09-01 DOI: 10.1093/omcr/omag170

Sunil Munakomi, Naphibanroi Lamar, Ishan Shrestha

引用次数: 0

Retrograde intrarenal surgery in a non-fused left crossed ectopic kidney with large renal calculus: a case report and review of literature. 逆行肾内手术治疗未融合的左交叉异位肾伴大肾结石1例报告及文献复习。