Journal of investigative medicine high impact case reports最新文献

Delayed Diagnosis of Partial Anomalous Pulmonary Venous Return in an Adult With Pulmonary Hypertension. 成人肺动脉高压患者部分肺静脉异常回流的延迟诊断。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-03-17 DOI: 10.1177/23247096251326474

Sathish Krishnan, Sashi Adigopula, Nitesh Gadeela

引用次数: 0

Blue Sclera to Brittle Bones: A Rare Case of Osteogenesis Imperfecta With Dentinogenesis Imperfecta and Nephrocalcinosis. 蓝巩膜至骨质脆性：罕见的成骨不全伴牙本质不全及肾钙质沉着症病例。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-04-12 DOI: 10.1177/23247096251334237

Saad Hayat, Ahmad Roshan Mayan, Malik Wz Khan, Qazi Jawad Hayat

引用次数: 0

A Case of Omental Neuroendocrine Tumor Discovered Incidentally: Case Report. 偶然发现大网膜神经内分泌肿瘤1例。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-03-24 DOI: 10.1177/23247096241299286

Masataka Taki, Toshikatsu Nitta, Ryutaro Kubo, Aki Yoshiyama, Hidero Yoshimoto, Masatsugu Ishii, Takashi Ishibashi, Atsushi Takeshita

{"title":"A Case of Omental Neuroendocrine Tumor Discovered Incidentally: Case Report.","authors":"Masataka Taki, Toshikatsu Nitta, Ryutaro Kubo, Aki Yoshiyama, Hidero Yoshimoto, Masatsugu Ishii, Takashi Ishibashi, Atsushi Takeshita","doi":"10.1177/23247096241299286","DOIUrl":"10.1177/23247096241299286","url":null,"abstract":"Neuroendocrine cells are distributed throughout the body's organs, though neuroendocrine neoplasms are primarily documented in the gastrointestinal tract and pancreas, with rare occurrences elsewhere. Herein, we report a case of primary neuroendocrine tumor of the omentum (omental NET) that was incidentally detected as an omental mass during preoperative screening for colorectal cancer. The patient, a 66-year-old woman, with abdominal pain and decreased oral intake, leading to a diagnosis of obstructive colorectal cancer with a large, 55 mm, mass around the gastropyloric region, which was discontinuous with the gastrointestinal tract. After the placement of a colonic stent at the site of the ascending colon cancer to decompress the colon, a laparoscopic right hemicolectomy was performed, simultaneously excising the mass. Postoperative pathology revealed a neuroendocrine tumor (NET). Subsequent examinations detected no other lesions of suspected primary disease and postoperative somatostatin scintigraphy found no other lesions, establishing a diagnosis of omental NET. The rarity of omental NETs is attributable to the absence of neuroendocrine cells in the omentum. Moreover, solid tumors originating primarily from the omentum are very rare, making preoperative diagnosis difficult; therefore, postoperative pathology should be utilized. We presented a very rare case of omental NET, previously reported only once in the literature, and believe that complete resection with minimal invasiveness should be performed for treatment of this malignancy. In addition, we emphasize the need for continued patient follow-up.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096241299286"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11938437/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692648","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

Premature Coronary Artery Disease Presenting as STEMI in a Teenager. 在青少年中表现为STEMI的过早冠状动脉疾病

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 DOI: 10.1177/23247096251313985

Morni Modi, Paul Ndunda, Kalgi Modi

引用次数: 0

Suspected Transient Ischemic Attack Related to Dysfunctional Quadricuspid Aortic Valve. 怀疑与四尖瓣功能不全相关的短暂性脑缺血发作。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 DOI: 10.1177/23247096251313625

Arun Katwaroo, Jessica Kawall, Priya Ramcharan, Valmiki Seecheran, Rajeev Seecheran, Nafeesah Ali, Shari Khan, Naveen Anand Seecheran

引用次数: 0

Cryptococcus neoformans Meningoencephalitis in a Young Immunocompetent Patient. 年轻免疫能力患者的新型隐球菌性脑膜脑炎。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-04-25 DOI: 10.1177/23247096251334235

Michael Ke, Neeki Ettefagh, Ahmet Semih Topbas, Mehdi Kazemi

引用次数: 0

Sacral Metastasis in Follicular Thyroid Carcinoma: Cytology Pitfalls and Serum Thyroglobulin Utility. 滤泡性甲状腺癌的骶骨转移：细胞学缺陷和血清甲状腺球蛋白效用。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-04-25 DOI: 10.1177/23247096251336659

Kinh Kha Nguyen, Dinh Kinh Hoang, Quoc Trung Lam, Thanh Phong Lenh

引用次数: 0

A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases. 巴勒斯坦儿童Rafiq综合征（MAN1B1-CDG） 1例，附44例文献回顾。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 DOI: 10.1177/23247096251313731

Reema Iskafi, Bahaa AbuRahmeh, Roa'a Aljuneidi, Hidaya AlShweiki, Siraj Abdelnabi, Anas Abukhalaf, Bara' Maraqa

{"title":"A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases.","authors":"Reema Iskafi, Bahaa AbuRahmeh, Roa'a Aljuneidi, Hidaya AlShweiki, Siraj Abdelnabi, Anas Abukhalaf, Bara' Maraqa","doi":"10.1177/23247096251313731","DOIUrl":"10.1177/23247096251313731","url":null,"abstract":"Rafiq syndrome, MAN1B1-CDG, was described in 2010 and associated with genetic mutation in MAN1B1 gene in 2011. The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. The syndrome belongs to a group of metabolic disorders called Congenital Glycosylation Disorders (CGD). In this study, we discuss a 5-year-old male from Palestine who presented with developmental delay, hypotonia, characteristic facial dysmorphisms, impulsive behaviors, inability to speak, cryptorchidism, and other manifestations. This constellation of manifestations raised suspicion of a genetic disorder, prompting whole exome sequencing (WES), which revealed the presence of a homozygous likely pathogenic variant in the MAN1B1 gene (c.1976T>G)(p.Phe659Cys). We also reviewed all previously documented cases and compared the clinical features among them. After reviewing the family pedigree and its suspected cases, we found that the 2 most frequent features among them are intellectual disability and facial dysmorphism, whereas the least frequent one is truncal obesity. We discussed the importance of providing genetic counseling to parents of children with this and other rare, autosomal recessive disorders to prevent new cases from appearing.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251313731"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006799","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

The Challenging and Unique Diagnosis of VEXAS Syndrome: A Case Report. 具有挑战性和独特诊断的VEXAS综合征：1例报告。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-04-04 DOI: 10.1177/23247096251325416

Jowan Al-Nusair, Olivia Lim, Leena Alhusari, Abdelwahap Elghezewi, Mahmoud Abdallah, Mohamed Alshal, Toni Pacioles

{"title":"The Challenging and Unique Diagnosis of VEXAS Syndrome: A Case Report.","authors":"Jowan Al-Nusair, Olivia Lim, Leena Alhusari, Abdelwahap Elghezewi, Mahmoud Abdallah, Mohamed Alshal, Toni Pacioles","doi":"10.1177/23247096251325416","DOIUrl":"10.1177/23247096251325416","url":null,"abstract":"VEXAS syndrome, a myeloid-driven autoinflammatory disorder associated with somatic mutations in the UBA1 gene, was first described in 2020 and presents significant diagnostic challenges due to its complex clinical features, including hematological abnormalities and autoimmune manifestations. We describe a case involving a 64-year-old male presenting with persistent anemia, weight loss, fatigue, fever, and recurrent inflammatory symptoms. Diagnostic workup, including imaging, serology, and bone marrow biopsy, revealed characteristic findings, including myeloid hyperplasia, and vacuolization in precursor cells. Genetic testing identified a UBA1 gene mutation, solidifying the diagnosis of VEXAS syndrome. The patient responded to immunosuppressive treatment with prednisone and ruxolitinib, with significant improvement in symptoms. This case tells us the importance of considering VEXAS syndrome in patients with refractory systemic inflammation and hematological abnormalities, particularly in older males. Early recognition and genetic testing are crucial for guiding treatment decisions, as the condition is progressive, often relapsing, and requires multidisciplinary management.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251325416"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970060/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780378","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

Fatal Pulmonary Failure-A Rare Case of Blastomycosis Induced Acute Respiratory Distress Syndrome: A Case Report and Literature Review. 致死性肺衰竭-罕见的芽孢菌病引起的急性呼吸窘迫综合征1例报告并文献复习。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-03-14 DOI: 10.1177/23247096251323074

Sinen Zeleke, Leen Kayali, Ean Bills, Saron Tigabe, Andy White, Victoria Watson, Fuad Zeid, Zakaria Alagha

{"title":"Fatal Pulmonary Failure-A Rare Case of Blastomycosis Induced Acute Respiratory Distress Syndrome: A Case Report and Literature Review.","authors":"Sinen Zeleke, Leen Kayali, Ean Bills, Saron Tigabe, Andy White, Victoria Watson, Fuad Zeid, Zakaria Alagha","doi":"10.1177/23247096251323074","DOIUrl":"10.1177/23247096251323074","url":null,"abstract":"Blastomycosis is a systemic fungal infection caused by Blastomyces dermatitidis, primarily found in the Ohio and Mississippi River valleys. It often presents nonspecific symptoms, and while pulmonary involvement is common, progression to acute respiratory distress syndrome (ARDS) is rare but severe. This report examines a 55-year-old female patient with multiple comorbidities who developed ARDS due to blastomycosis. Imaging revealed multilobar infiltrates and pleural effusion, with cultures confirming blastomycosis. Despite broad-spectrum antibiotics and antifungal therapy, a delayed diagnosis led to respiratory failure and death. The case emphasizes the diagnostic challenges of blastomycosis, which can mimic conditions like bacterial pneumonia and malignancy. Treatment with amphotericin B is crucial for severe cases, but delays in diagnosis can worsen outcomes. This highlights the necessity for prompt diagnosis and comprehensive management, including early recognition of fungal infections in critically ill patients.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251323074"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11909673/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624950","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