Oxford Medical Case Reports最新文献_第6页

Aase-Smith syndrome type 2 with new neurological findings. 有新的神经学发现的2型Aase-Smith综合征。

IF 0.5

Oxford Medical Case Reports Pub Date : 2025-03-28 eCollection Date: 2025-04-01 DOI: 10.1093/omcr/omaf006

Sarah Aljarad, Ahmad Alhamid, Hamdah Hanifa, Obada Zayegh, Jamal Ataya, Ziad Aljarad

引用次数: 0

Unmasking the uncommon: retroperitoneal Leiomyosarcoma case report. 揭露不寻常：腹膜后平滑肌肉瘤病例报告。

IF 0.5

Oxford Medical Case Reports Pub Date : 2025-03-28 eCollection Date: 2025-04-01 DOI: 10.1093/omcr/omaf002

Boujguenna Imane, Mohammed Essaid Ramraoui, Fatima Boukis, Faisal ElMouhafid

引用次数: 0

Diagnostic evaluation and management of pulmonary hypertension with concomitant incidental partial anomalous pulmonary venous return. 肺动脉高压伴发偶发部分肺静脉回流异常的诊断评价与治疗。

IF 0.5

Oxford Medical Case Reports Pub Date : 2025-03-28 eCollection Date: 2025-04-01 DOI: 10.1093/omcr/omae214

Isaac K S Ng, Christopher Thong, Gaurav Deep Singh, Peter Daniel, Kei Jun Poon, Ching Ching Ong, Adrian C L Kee

{"title":"Diagnostic evaluation and management of pulmonary hypertension with concomitant incidental partial anomalous pulmonary venous return.","authors":"Isaac K S Ng, Christopher Thong, Gaurav Deep Singh, Peter Daniel, Kei Jun Poon, Ching Ching Ong, Adrian C L Kee","doi":"10.1093/omcr/omae214","DOIUrl":"10.1093/omcr/omae214","url":null,"abstract":"Partial anomalous pulmonary venous return (PAPVR) is a rare congenital heart condition which is often asymptomatic and hence remains undiagnosed, but could occasionally be detected on thoracic imaging as an incidental finding. For rare cases of newly diagnosed pulmonary hypertension with concurrent PAPVRs, the diagnostic workup and subsequent management are more complicated, requiring a thorough evaluation of secondary causes of pulmonary hypertension, and assessing relative PAPVR shunt contribution to the pulmonary hypertension. We herein report a case of a 74-year-old Chinese male patient, a chronic smoker of 50 pack-years, and past medical history of hypertension and diabetes mellitus, who was admitted to our intensive care unit with acute decompensated type 2 respiratory failure, and subsequently found to have newly diagnosed pulmonary hypertension with right heart failure and an incidental PAPVR identified on inadvertent central venous cannulation (CVC) of the anomalous pulmonary vein draining into the left internal jugular vein. There are a few key learning points from this case study: firstly, we profile the characteristics and clinical outcomes of cases of incidental CVC cannulation of undiagnosed PAPVR from a literature review; and secondly, we discuss the diagnostic and management approach to newly diagnosed pulmonary hypertension with concomitant, incidental PAPVR that may be useful for internists and critical care physicians.","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 4","pages":"omae214"},"PeriodicalIF":0.5,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952895/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143754697","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

Case report of atypical presentation of Bartter's syndrome: hypertension and Hypokalemic nephropathy in a female patient. 巴特氏综合征的不典型表现的病例报告：高血压和低钾血症肾病的女性患者。

IF 0.5

Oxford Medical Case Reports Pub Date : 2025-03-28 eCollection Date: 2025-04-01 DOI: 10.1093/omcr/omae215

Emad A Odeh, Jaber H Jaradat, Raghad Amro, Seif Jankhout, Abdulqadir J Nashwan

{"title":"Case report of atypical presentation of Bartter's syndrome: hypertension and Hypokalemic nephropathy in a female patient.","authors":"Emad A Odeh, Jaber H Jaradat, Raghad Amro, Seif Jankhout, Abdulqadir J Nashwan","doi":"10.1093/omcr/omae215","DOIUrl":"10.1093/omcr/omae215","url":null,"abstract":"Bartter's syndrome (BS) is a rare hereditary disorder characterized by tubulopathies that affect salt reabsorption in the thick ascending limb of the Henle's loop. While BS typically presents with electrolyte imbalances and normal blood pressure, atypical presentations can complicate its diagnosis and management. We report the case of a 21-year-old female with BS diagnosed clinically at birth who presented with cough, vomiting, and elevated blood pressure. Despite a positive family history of BS, her presentation was unique with hypertension and hypokalemic nephropathy. Diagnostic evaluations during hospital admission revealed electrolyte imbalances, kidney dysfunction, and renal histopathological findings that were consistent with hypokalemic nephropathy. This case highlights the diverse clinical manifestations and potential complications of BS and emphasizes the importance of thorough evaluation and multidisciplinary management. Further research is needed to elucidate the underlying mechanisms linking BS with hypertension and hypokalemic nephropathy, and to guide targeted therapeutic strategies for complex presentations.","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 4","pages":"omae215"},"PeriodicalIF":0.5,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952896/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143754696","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

Neuroendocrine carcinoma causing common bile duct obstruction: a case report. 神经内分泌癌致胆总管梗阻1例。

IF 0.5

Oxford Medical Case Reports Pub Date : 2025-03-28 eCollection Date: 2025-04-01 DOI: 10.1093/omcr/omaf011

Richard Shamoon, Osman Elhassan, Lujain Al-Emadi, Abdulwahab Zabara, Mahir A Petkar, Sarah Sayed, Osama H Mohammad

引用次数: 0

Bilateral breast lymphoma in lactating woman: rare and particularly aggressive entity. 哺乳期妇女双侧乳房淋巴瘤：罕见且特别具有侵袭性的实体。

IF 0.5

Oxford Medical Case Reports Pub Date : 2025-03-28 eCollection Date: 2025-04-01 DOI: 10.1093/omcr/omaf014

Fatima Ezzahra Lahlimi, Ouadii Abakarim, Ibtissam Mhirig, Illias Tazi

引用次数: 0

Renal mucinous cystadenoma in the context of lynch syndrome and colonic neuroendocrine neoplasm: a case report. 肾粘液囊腺瘤合并lynch综合征和结肠神经内分泌肿瘤1例报告。

IF 0.5

Oxford Medical Case Reports Pub Date : 2025-03-28 eCollection Date: 2025-04-01 DOI: 10.1093/omcr/omaf012

Ivy Wen, Lawrence H Kim, Matt Wong, Shannon di Lernia, Fiona Maclean, Allen Lee, Adrian Lee, Anu Ganapathy, David Chan

{"title":"Renal mucinous cystadenoma in the context of lynch syndrome and colonic neuroendocrine neoplasm: a case report.","authors":"Ivy Wen, Lawrence H Kim, Matt Wong, Shannon di Lernia, Fiona Maclean, Allen Lee, Adrian Lee, Anu Ganapathy, David Chan","doi":"10.1093/omcr/omaf012","DOIUrl":"10.1093/omcr/omaf012","url":null,"abstract":"Renal mucinous cystadenoma (RMC) is an exceptionally rare finding with a poorly understood pathogenesis. Links between RMC and other malignancies are not well described, nor are there known associations with familial cancer disorders. We present the first case of RMC associated with Lynch syndrome (LS) and neuroendocrine neoplasm. A 56-year-old woman presented with iron deficiency leading to a diagnosis of a colonic mixed neuroendocrine-non-neuroendocrine carcinoma. After initial surgery, she experienced local recurrences at 6 and 12 months, treated with resection and adjuvant chemotherapy. Tumours displayed deficient MMR proteins with BRAF positivity, and germline testing confirmed LS. Surveillance subsequently revealed a complex cyst arising from a horseshoe kidney, for which she underwent a partial nephrectomy. Histopathology confirmed this to be renal mucinous cystadenoma arising from the pelvicalyceal system. This case underscores the need for further investigation into RMC pathogenesis and its potential association with LS.","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 4","pages":"omaf012"},"PeriodicalIF":0.5,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952886/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143754963","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

An unexpected case of hypothyroidism in a young female patient undergoing first-line anti-tuberculosis therapy for pulmonary tuberculosis. 一例意外的甲状腺功能减退症的年轻女性患者接受一线抗结核治疗肺结核。

IF 0.5

Oxford Medical Case Reports Pub Date : 2025-03-28 eCollection Date: 2025-04-01 DOI: 10.1093/omcr/omaf008

Haroon Ahmed Khan, Uooja Devi, Muhammad Faheem Iqbal, Ali Aamir

{"title":"An unexpected case of hypothyroidism in a young female patient undergoing first-line anti-tuberculosis therapy for pulmonary tuberculosis.","authors":"Haroon Ahmed Khan, Uooja Devi, Muhammad Faheem Iqbal, Ali Aamir","doi":"10.1093/omcr/omaf008","DOIUrl":"10.1093/omcr/omaf008","url":null,"abstract":"Hypothyroidism, once considered a rare adverse effect of anti-tuberculosis (TB) medication, is increasingly observed in patients undergoing second-line therapy for multidrug-resistant tuberculosis (MDR-TB). This study discusses a case involving a 17-year-old female patient who presented to the emergency department with sub-acute intestinal obstruction secondary to pulmonary TB. She underwent an exploratory laparotomy, during which routine investigations revealed elevated thyroid-stimulating hormone (TSH) levels. A week later, a second laparotomy was performed under general anaesthesia. Postoperatively, facial puffiness was noted, prompting a repeat TSH test, which indicated a significant increase from the initial levels. The diagnosis was revised to hypothyroidism potentially related to anti-tuberculosis therapy (ATT). While existing literature predominantly associates hypothyroidism with second-line anti-TB medications in MDR-TB patients, this study suggests a potential link between first-line ATT and hypothyroidism. This finding underscores the importance of monitoring TSH levels in patients on first-line anti-TB drugs.","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 4","pages":"omaf008"},"PeriodicalIF":0.5,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952883/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753740","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

Atypical presentation of Liposarcoma involving the breast: a case report. 乳腺脂肪肉瘤的非典型表现：病例报告。

IF 0.5

Oxford Medical Case Reports Pub Date : 2025-03-28 eCollection Date: 2025-04-01 DOI: 10.1093/omcr/omaf013

Aswen Sriranganathan, Afsaneh Alikhassi

引用次数: 0

Ectopic ACTH-secreting pheochromocytoma without typical signs of Cushing syndrome. 异位acth分泌嗜铬细胞瘤，无典型库欣综合征征象。

IF 0.5

Oxford Medical Case Reports Pub Date : 2025-03-28 eCollection Date: 2025-04-01 DOI: 10.1093/omcr/omaf005

Zeltzin Soto-Montes, David Medina-Julio, Orlando D Solis-Coronado, Jesús G Mendoza-García, Erika K Tenorio-Aguirre, Froylan D Martínez-Sánchez

{"title":"Ectopic ACTH-secreting pheochromocytoma without typical signs of Cushing syndrome.","authors":"Zeltzin Soto-Montes, David Medina-Julio, Orlando D Solis-Coronado, Jesús G Mendoza-García, Erika K Tenorio-Aguirre, Froylan D Martínez-Sánchez","doi":"10.1093/omcr/omaf005","DOIUrl":"10.1093/omcr/omaf005","url":null,"abstract":"This case report describes a 42-year-old female with a rare pheochromocytoma presenting without classic Cushingoid features but with uncontrolled hypertension, type 2 diabetes, and recurrent headaches. Despite the absence of typical signs, biochemical analysis revealed elevated cortisol and ACTH levels, and imaging showed a 6 cm adrenal mass. The patient was stabilized preoperatively with alpha-blockers and metyrapone before undergoing a successful laparoscopic adrenalectomy. Histopathology confirmed pheochromocytoma with aggressive features. Postoperatively, her blood pressure and symptoms improved, and her cortisol levels normalized. This case underscores the diagnostic challenges of ACTH-secreting pheochromocytomas without classic hypercortisolism signs and emphasizes the need for thorough endocrine and imaging assessments. Surgical resection remains the definitive treatment, with long-term follow-up essential to monitor for recurrence. This case contributes to the limited literature on the coexistence of pheochromocytoma and ectopic ACTH secretion.","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 4","pages":"omaf005"},"PeriodicalIF":0.5,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952888/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143754700","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