Journal of investigative medicine high impact case reports最新文献

Premature Coronary Artery Disease Presenting as STEMI in a Teenager.

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

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

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

IF 0.9

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.

IF 0.9

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.

IF 0.9

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

Thanks to Reviewers. 感谢审稿人。

IF 0.9

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

引用次数: 0

A Case of Pulmonary Sarcoidosis With Multiple Endobronchial Polypoid Structures and Partial Airway Obstruction.

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 DOI: 10.1177/23247096251313630

Nagihan Orhun, Utku Ekin, Islam Rajab, Jessimar Sanchez, Arham Hazari, Mourad Ismail

引用次数: 0

Methimazole-Induced Cholestatic Jaundice: A Rare Case and Literature Review.

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 DOI: 10.1177/23247096251317285

Ahmed Mohamed Nefzi, Dhouha Cherif, Habiba Dabbebi, Haythem Yacoub, Hajer Hassine, Hela Kchir, Khadija Bellil, Nadia Maamouri

{"title":"Methimazole-Induced Cholestatic Jaundice: A Rare Case and Literature Review.","authors":"Ahmed Mohamed Nefzi, Dhouha Cherif, Habiba Dabbebi, Haythem Yacoub, Hajer Hassine, Hela Kchir, Khadija Bellil, Nadia Maamouri","doi":"10.1177/23247096251317285","DOIUrl":"10.1177/23247096251317285","url":null,"abstract":"Methimazole is commonly prescribed for patients with hyperthyroidism. It typically exhibits a well-tolerated profile, with common side effects including gastrointestinal disorders and rash. However, more serious rare yet adverse reactions, notably agranulocytosis and hepatotoxicity have been documented in literature. Here we present a case of a 27-year-old female, recently diagnosed with Graves' disease, who was prescribed methimazole and developed severe pruritus with cholestatic jaundice 13 days later. Concomitant causes of liver disease were ruled out. The treatment was discontinued, and a switch to corticosteroid therapy with a regimen of radioactive iodine sessions was initiated. The patient's condition showed a resolution of pruritus and jaundice, a disappearance of cytolysis with an aggravation of cholestasis followed by a gradual decrease, leading to the liver function normalization after 2 years. Methimazole-induced cholestatic jaundice is a rare yet severe adverse effect. Patients should be aware of this complication and advised to immediately stop taking the treatment when suggestive symptoms (pruritus, jaundice, dark urine, light-colored stool) occur.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251317285"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11800239/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143255901","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

Granulomatous Polyangiitis Refractory to Induction With Rituximab in 3 Patients. 3名患者的肉芽肿性多血管炎对利妥昔单抗诱导治疗无效

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096231215730

Nouran Eshak, Grace Ehikhueme, Malvika Ramesh, John Pixley

引用次数: 0