Oxford Medical Case Reports最新文献_第8页

Pure red cell aplasia in a patient with rheumatoid arthritis after JAK inhibitor exposure-diagnostic challenges. JAK抑制剂暴露后类风湿关节炎患者的纯红细胞发育不全-诊断挑战

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-07-12 eCollection Date: 2026-07-01 DOI: 10.1093/omcr/omag125

Shashi Rajnarinesingh, Maria Georgiou, Nita Prasannan, Priya Sriskandarajah

引用次数: 0

Serpiginous erythema multiforme. 多形性蛇形红斑。

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-07-12 eCollection Date: 2026-07-01 DOI: 10.1093/omcr/omag122

Jamie D P Wen, Dimitrios Karponis

引用次数: 0

Roberts syndrome presenting with bilateral Cryptophthalmos: a case report. 罗伯茨综合征表现为双侧隐眼：1例报告。

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-07-12 eCollection Date: 2026-07-01 DOI: 10.1093/omcr/omag128

Muhammad Usman Fareed, Abdur Rehman, Abdullah Shehryar, Shivam Singla, Bhavna Singla, Shabbir Mazari

{"title":"Roberts syndrome presenting with bilateral Cryptophthalmos: a case report.","authors":"Muhammad Usman Fareed, Abdur Rehman, Abdullah Shehryar, Shivam Singla, Bhavna Singla, Shabbir Mazari","doi":"10.1093/omcr/omag128","DOIUrl":"10.1093/omcr/omag128","url":null,"abstract":"Roberts syndrome (RBS) is a rare autosomal recessive cohesinopathy caused by pathogenic ESCO2 variants and characterized by severe growth restriction, limb reduction defects, and craniofacial anomalies. Cryptophthalmos is classically associated with Fraser syndrome and is not well described in RBS. We report a 7-day-old male neonate born to consanguineous parents who presented with respiratory distress, poor feeding, severe growth restriction, symmetrical limb reduction defects, ambiguous genitalia, and bilateral cryptophthalmos. Prenatal ultrasonography identified limb and genitourinary anomalies. Postnatal evaluation demonstrated multisystem involvement, including horseshoe kidney with hydronephrosis. Molecular testing identified a homozygous pathogenic ESCO2 variant, confirming Roberts syndrome. Although cryptophthalmos initially raised concern for Fraser syndrome, the overall phenotype and genetic findings supported RBS. This case expands the recognized phenotypic spectrum of Roberts syndrome and highlights the importance of molecular testing in complex congenital presentations.","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2026 7","pages":"omag128"},"PeriodicalIF":0.6,"publicationDate":"2026-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13356589/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148431395","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

Benign struma ovarii mimicking ovarian cancer in an afghan woman: an unusual case report and literature review. 阿富汗妇女卵巢良性甲状腺肿样卵巢癌1例：罕见病例报告及文献回顾。

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-07-12 eCollection Date: 2026-07-01 DOI: 10.1093/omcr/omag124

Maryam Yousefi, Elham Sadat Banimostafavi, Mahdiieh Ghoddoosi

{"title":"Benign struma ovarii mimicking ovarian cancer in an afghan woman: an unusual case report and literature review.","authors":"Maryam Yousefi, Elham Sadat Banimostafavi, Mahdiieh Ghoddoosi","doi":"10.1093/omcr/omag124","DOIUrl":"10.1093/omcr/omag124","url":null,"abstract":"Introduction: Struma ovarii is a rare monodermal teratoma composed predominantly of thyroid tissue. While typically benign, its clinical and radiological presentation can be highly deceptive, often mimicking a malignant ovarian tumor.Case presentation: A 52-year-old postmenopausal Afghan woman presented with progressive abdominal distension, pelvic pain, severe ascites, and a complex, highly vascular right adnexal mass. Imaging (ORADS 5) and markedly elevated CA-125 suggested advanced ovarian carcinoma. Despite receiving seven cycles of carboplatin/paclitaxel chemotherapy for presumed primary peritoneal carcinoma, the mass and ascites persisted. Following laparotomy and left salpingo-oophorectomy, histopathology confirmed benign struma ovarii without peritoneal carcinomatosis. Postoperatively, ascites resolved and CA-125 normalized. The patient remained well with no recurrence at 14-month follow-up.Conclusion: This case underscores the critical importance of considering struma ovarii in the differential diagnosis of a complex ovarian mass, even when clinical features and tumor markers strongly suggest malignancy.","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2026 7","pages":"omag124"},"PeriodicalIF":0.6,"publicationDate":"2026-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13356592/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148431376","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

Pure Sertoli cell tumor of the right ovary managed with fertility-sparing surgery: a case report. 保留生育能力手术治疗右侧卵巢纯支持细胞瘤1例。

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-07-12 eCollection Date: 2026-07-01 DOI: 10.1093/omcr/omag131

Yohannis Derbew Molla, Suleiman Ayalew Belay, Abebaw Muhabaw Zegeye, Samuel Addisu Abera, Endeshaw Asaye Kindie, Getachew Shiferaw Yigezaw

引用次数: 0

An exceptional localization of esophageal cancer: metastasis to the internal auditory canal. 食管癌的特殊定位：转移到内耳道。

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1093/omcr/omag103

Thomas Renders, Younes Steffens, Anne Doyen

引用次数: 0

Late-life decompensation in longstanding obsessive compulsive disorder: a psychiatric prodrome of dementia with Lewy bodies? A case report. 长期强迫症的老年失代偿：路易体痴呆的精神前驱症状？一份病例报告。

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1093/omcr/omag115

R E Agnew, F Garcia, C Barton, S Kearney, J P M Kane

引用次数: 0

Bronchoperitoneal fistula in a patient with pneumatosis Cystoides intestinalis: a diagnostic challenge. 肠囊性肺肿患者的支气管腹腔瘘：一个诊断挑战。

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1093/omcr/omag116

Idan Grossmann, Aubin Attila, Anid Hassan, Anasuya Brahmamdam, Jaimin Dudhia, William Sebastian, Stuart Campbell, Aroob Farooqi, Kamil Ahmad Kamil, Mohammad Amir Hossain, Lee Peng

{"title":"Bronchoperitoneal fistula in a patient with pneumatosis Cystoides intestinalis: a diagnostic challenge.","authors":"Idan Grossmann, Aubin Attila, Anid Hassan, Anasuya Brahmamdam, Jaimin Dudhia, William Sebastian, Stuart Campbell, Aroob Farooqi, Kamil Ahmad Kamil, Mohammad Amir Hossain, Lee Peng","doi":"10.1093/omcr/omag116","DOIUrl":"10.1093/omcr/omag116","url":null,"abstract":"Background: Pneumatosis cystoides intestinalis (PCI) is a rare condition characterized by the presence of multiple gas-filled cysts within the wall of the gastrointestinal tract, leading to variable clinical presentations and diagnostic challenges. A bronchoperitoneal fistula is an exceedingly rare complication, typically resulting from downward gas tracking secondary to thoracic pathology.Case presentation: We report the case of a 76-year-old female with a remote history of hiatal hernia repair who developed chronic gastrointestinal symptoms associated with pneumoperitoneum and PCI, complicated by a bronchoperitoneal fistula. While the most bronchoperitoneal fistulas reported are due to thoracic pathology, we suggest that in this case, the fistula may be associated with PCI-related pneumoperitoneum.Conclusions: The case demonstrates unique clinical and diagnostic features and raises the possibility of an atypical pathophysiologic association for broncho-peritoneal fistula formation.","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2026 7","pages":"omag116"},"PeriodicalIF":0.6,"publicationDate":"2026-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13343776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148413373","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

Pediatric acute liver failure in a child with arsenic toxicity and underlying rotor syndrome. 小儿急性肝衰竭的儿童砷中毒和潜在转子综合征。

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1093/omcr/omag111

Shivangi Tetarbe, Dhruv Gandhi, Lakshmi Shobhavat, Ira Shah

引用次数: 0

Intestinal failure-associated liver disease in a child with short bowel syndrome: management issues. 短肠综合征患儿肠衰竭相关肝病：管理问题

IF 0.6

Oxford Medical Case Reports Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1093/omcr/omag117

Barkha Dhanjani, Shivangi Tetarbe, Dhruv Gandhi, Ira Shah

{"title":"Intestinal failure-associated liver disease in a child with short bowel syndrome: management issues.","authors":"Barkha Dhanjani, Shivangi Tetarbe, Dhruv Gandhi, Ira Shah","doi":"10.1093/omcr/omag117","DOIUrl":"10.1093/omcr/omag117","url":null,"abstract":"Intestinal failure (IF) refers to a state where the absorptive surface of the small intestine is inadequate to maintain water and electrolyte balance and to meet nutritional demands for optimal growth in children. We describe a 2-month-old infant with short bowel syndrome (SBS) and intestinal failure-associated liver disease (IFALD) following surgical resection for intestinal malrotation and midgut volvulus. He required prolonged total parenteral nutrition (TPN), which resulted in cholestasis and progressive liver dysfunction. Management included ursodeoxycholic acid, amino acid-based continuous feeds, antibiotics, percutaneous transhepatic biliary drainage, and supportive therapies. The illness course was complicated by recurrent diarrhea, hypoglycemia, suspected small intestinal bacterial overgrowth, and Candida sepsis. Gradual clinical improvement was observed, with the resolution of IFALD and appropriate weight gain. On follow-up at 1.5 years, the child was tolerating full oral feeds and had normal liver function. This case highlights the management challenges of SBS with IFALD associated with TPN.","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2026 7","pages":"omag117"},"PeriodicalIF":0.6,"publicationDate":"2026-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13343771/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148413239","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