Journal of investigative medicine high impact case reports最新文献

Premature Coronary Artery Disease Presenting as STEMI in a Teenager.

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

Morni Modi, Paul Ndunda, Kalgi Modi

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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。

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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

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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。

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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

Successful Endoscopic Management of Oxyntic Gland Adenoma: A Case Report.

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Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 DOI: 10.1177/23247096251313729

Rajarajeshwari Ramachandran, Tyler Grantham, Jeffrey Loeffler, Madhavi Reddy, Vinaya Gaduputi

引用次数: 0

Complement-Mediated Hemolytic Uremic Syndrome Due to MCP/CD46 Mutation: A Case Report.

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Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 DOI: 10.1177/23247096251316364

Abdul Muhsen Abdeen, Jowan Al-Nusair, Malik Samardali, Mohamed Alshal, Amro Al-Astal, Zeid Khitan

{"title":"Complement-Mediated Hemolytic Uremic Syndrome Due to MCP/CD46 Mutation: A Case Report.","authors":"Abdul Muhsen Abdeen, Jowan Al-Nusair, Malik Samardali, Mohamed Alshal, Amro Al-Astal, Zeid Khitan","doi":"10.1177/23247096251316364","DOIUrl":"10.1177/23247096251316364","url":null,"abstract":"Thrombotic microangiopathy (TMA) is a severe condition characterized by microangiopathic hemolytic anemia, thrombocytopenia, and end-organ damage, often involving the kidneys. Complement-mediated hemolytic uremic syndrome (cHUS), a rare form of TMA, arises from dysregulated alternative complement pathway activation, frequently due to genetic mutations. We report the case of a 23-year-old male presenting with TMA secondary to a heterozygous mutation in the membrane cofactor protein (MCP/CD46) gene. The patient exhibited severe renal and cardiovascular complications, including acute kidney injury requiring hemodialysis, uremic pericarditis, and persistent anemia. Diagnostic evaluation confirmed complement dysregulation, and management with eculizumab, plasmapheresis, and hemodialysis was initiated. Renal biopsy revealed classic TMA features, and genetic testing identified the MCP mutation, underscoring the importance of genetic predispositions in guiding diagnosis and therapy. This case emphasizes the critical role of genetic testing in TMA evaluation and highlights the potential for improved outcomes through targeted complement inhibition and individualized care strategies.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251316364"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11773514/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052688","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

Lymphocytic Esophagitis: Navigating an Uncharted Territory.

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Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 DOI: 10.1177/23247096251313734

Ahmad Jradi, Kaline Maya Khoury, Karam Karam, Dr Ihab I El Hajj, Elias Fiani

{"title":"Lymphocytic Esophagitis: Navigating an Uncharted Territory.","authors":"Ahmad Jradi, Kaline Maya Khoury, Karam Karam, Dr Ihab I El Hajj, Elias Fiani","doi":"10.1177/23247096251313734","DOIUrl":"10.1177/23247096251313734","url":null,"abstract":"Lymphocytic esophagitis (LE) is an uncommon subtype of esophagitis defined by persistent esophageal inflammation characterized by a high count of intraepithelial lymphocytes with scarce granulocytes. Although LE can present with atypical features such as chest pain, its clinical presentation can mimic that of gastroesophageal reflux disease or eosinophilic esophagitis, highlighting the importance of biopsy in diagnosing LE. Studies are still limited in understanding the pathophysiology behind this disease warranting further research. A 47-year-old female patient sought medical care with a chief complaint of recurrent substernal chest pain for the past year. An esophagogastroduodenoscopy was performed and showed patchy linear esophageal erosions and mucosal edema in the middle third of the esophagus with mild erythema. Biopsies revealed intraepithelial lymphocytosis with more than 40 lymphocytes per high-power field, corroborating a diagnosis of LE. Patient reported improvement after receiving high dose of proton pump inhibitor (PPI) on her first follow-up, advised to follow a low-acid diet and an annual endoscopy to monitor her response to treatment. Lymphocytic esophagitis often presents with symptoms that overlap with other esophageal diseases explaining the possible errors in underdiagnosing it as reason behind non-cardiac chest pain. This case plays an instrumental role in changing the way physicians translate unexplained chest pain, adding LE to their list of differential diagnosis as prompt detection slows us to start management with PPIs quicker and lessen the burden of symptoms on the patient. Standardized treatment approaches and further studies are required to clarify the connection between LE and non-cardiac chest discomfort.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251313734"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11783483/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066062","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.

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":"https://doi.org/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":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Idiopathic Nodular Glomerulosclerosis in a Long-term Passive Smoker With Recently Diagnosed Hypertension: A Case Report.

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-03-11 DOI: 10.1177/23247096251323066

Mehrbod Vakhshoori, Paul E Hanna, Zainab Obaidi, Yan Chen Wongworawat, Amir Abdipour, Sayna Norouzi

{"title":"Idiopathic Nodular Glomerulosclerosis in a Long-term Passive Smoker With Recently Diagnosed Hypertension: A Case Report.","authors":"Mehrbod Vakhshoori, Paul E Hanna, Zainab Obaidi, Yan Chen Wongworawat, Amir Abdipour, Sayna Norouzi","doi":"10.1177/23247096251323066","DOIUrl":"10.1177/23247096251323066","url":null,"abstract":"Idiopathic nodular glomerulosclerosis (ING) is mostly associated with long-standing active smoking and hypertension (HTN). Herein, we present a rare case of ING in a passive smoker with recently diagnosed uncontrolled HTN. A 60-year-old white female with Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal plasma cell disorder, Skin changes (POEMS) syndrome and newly diagnosed HTN was referred because of an elevated creatinine level. She denied being an active smoker but reported long-term exposure to cigarette smoke due to living with a heavy smoking family and working as a bartender. Further investigations revealed microscopic hematuria and nephritic range proteinuria. Kidney biopsy revealed diffuse and focal nodular mesangial expansion without hypercellularity, with negative staining for amyloid, fibrillary glomerulonephritis, and immunoglobulins, leading to a diagnosis of ING. This case highlights a rare case of ING secondary to heavy passive smoking and uncontrolled HTN.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251323066"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11898078/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605187","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

Thanks to Reviewers. 感谢审稿人。

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Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 DOI: 10.1177/23247096251316453

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Abdominal Actinomycosis Abscess Mimicking Malignancy: A Case Report and Review of the Literature.

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Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 DOI: 10.1177/23247096251316374

Yosra Loukil, Saadia Makni, Youssef Mejdoub, Haitham Rejab, Nozha Toumi, Slim Charfi, Tahya Sallemi Boudawara, Marwa Bouhamed

引用次数: 0