Journal of investigative medicine high impact case reports最新文献_第3页

A Rare Case of Primary Small Cell Carcinoma of the Esophagus. 原发性食道小细胞癌1例。

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Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-08-04 DOI: 10.1177/23247096251363010

Jiya Mulayamkuzhiyil, Justeena Joseph, Anchita Agrawal, Tommy Ojukwu Perdomo, Sanjeev Jain

引用次数: 0

A Rare Complication Unveiled: Ostial Left Main Stenosis Post SAVR-A Case Report. 一罕见并发症揭露：savr后左主干开口狭窄1例报告。

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Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-07-15 DOI: 10.1177/23247096251358675

Emmanuel Daniel, Mohammed El-Nayir, Thomas Dougan, Priyata Dutta, Paul Nona

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。

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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

Follicular Lymphoma of the Gallbladder in an Octogenarian: A Case Report and Literature Review. 八旬老人胆囊滤泡性淋巴瘤一例报告及文献复习。

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Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-05-27 DOI: 10.1177/23247096251342035

Mikayla Myers, Bassel Dakkak, Swapna Sirigireddy, Ibrahim Shanti, Drew Ferguson, Abdelwahap Elghezewi, Mustafa Ben Khayal, Zakaria Alagha, Ahmed Sherif, Eva-Pattont Tackett

{"title":"Follicular Lymphoma of the Gallbladder in an Octogenarian: A Case Report and Literature Review.","authors":"Mikayla Myers, Bassel Dakkak, Swapna Sirigireddy, Ibrahim Shanti, Drew Ferguson, Abdelwahap Elghezewi, Mustafa Ben Khayal, Zakaria Alagha, Ahmed Sherif, Eva-Pattont Tackett","doi":"10.1177/23247096251342035","DOIUrl":"10.1177/23247096251342035","url":null,"abstract":"Primary follicular lymphoma (PFL) is an indolent subtype of non-Hodgkin lymphoma that typically involves lymphoid tissues. Gallbladder involvement is exceedingly rare and poses significant diagnostic challenges. Few cases in the literature describe gallbladder follicular lymphoma, particularly in elderly male patients, leaving notable gaps in clinical understanding and management. Herein, we present the case of an 82-year-old male who presented with acute abdominal pain and unintentional weight loss. Initial imaging, including contrast-enhanced computed tomography, ultrasound, and magnetic resonance imaging, revealed a suspicious gallbladder mass with wall thickening and regional lymphadenopathy, raising concern for malignancy. Endoscopic ultrasound-guided fine needle aspiration and subsequent immunophenotyping confirmed a diagnosis of PFL. The patient underwent radical cholecystectomy with lymphadenectomy, and histopathological examination corroborated the diagnosis of gallbladder follicular lymphoma. During follow-up, the patient developed complications, yet no evidence of lymphoma recurrence was observed. A literature review identified 8 similar cases, further emphasizing the rarity of this presentation. Future research should focus on optimizing diagnostic techniques, refining therapeutic strategies, and conducting longer-term follow-up studies to better assess patient outcomes in such a rare disease. This case highlights the need for heightened clinical suspicion and comprehensive evaluation in atypical presentations of extranodal lymphoma.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251342035"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12117230/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144158723","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

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。

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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。

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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

Rapid Onset Liver Injury Due to Azacitidine Through Possibly a Unique Mechanism of Hypoperfusion of the Liver. 阿扎胞苷引起的快速肝损伤可能是一种独特的肝脏灌注不足机制。

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Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-05-21 DOI: 10.1177/23247096251344720

Dilara Hatipoglu, Arsia Jamali, Emily Sheng, K Rajender Reddy

引用次数: 0

Persistent Left Superior Vena Cava in the Setting of Granulicatella adiacens Bactermia and Crescentic Glomerulonephritis. 持续性左上腔静脉在棘芽肉芽菌血症和新月型肾小球肾炎中的应用。

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Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-09-27 DOI: 10.1177/23247096251381174

Mark A Colantonio, Danielle Sblendorio, Elizabeth Hart, Tiffany Caza, Vincent Melemai, Joshua Wiley

引用次数: 0

Asymptomatic Isolated Congenitally Corrected Transposition of the Great Arteries in a 25-Year-Old Male: A Case Report. 25岁男性无症状孤立性先天性纠正大动脉转位1例报告。

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Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-05-08 DOI: 10.1177/23247096251331840

Ahmed Aldolly, Saja Karaja, Hazem Arab, Yousef Alsaffaf, Saleh Takkem

{"title":"Asymptomatic Isolated Congenitally Corrected Transposition of the Great Arteries in a 25-Year-Old Male: A Case Report.","authors":"Ahmed Aldolly, Saja Karaja, Hazem Arab, Yousef Alsaffaf, Saleh Takkem","doi":"10.1177/23247096251331840","DOIUrl":"https://doi.org/10.1177/23247096251331840","url":null,"abstract":"Congenitally corrected transposition of the great arteries (ccTGA) is a complex cardiac abnormality that represents less than 1% of all congenital heart defects. It is characterized by a unique pathophysiology involving both atrioventricular and ventriculoarterial discordance and may occur with or without cardiac abnormalities such as ventricular septal defects, pulmonary stenosis, or tricuspid valve anomalies. A man in his 20s presented with a 3-week history of mild dyspnea during strenuous activities. The patient was diagnosed with isolated ccTGA based on electrocardiogram and echocardiogram findings. However, as a long-term complication of ccTGA, the patient exhibited mild tricuspid regurgitation, mild mitral regurgitation, and right ventricular hypertrophy. The dyspnea was explained by the failing systemic right ventricle. Despite his cardiac anomaly, the patient leads a normal lifestyle, with ongoing monitoring to ensure optimal management of his condition. ccTGA is even rarer in the absence of additional cardiac abnormalities, and its diagnosis could be delayed due to being asymptomatic. Patients must avoid risk factors and that could potentially aggravate their condition. Regular surveillance is imperative for the early detection of potential complications.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251331840"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12062649/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017640","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

Complement-Mediated Hemolytic Uremic Syndrome Due to MCP/CD46 Mutation: A Case Report. MCP/CD46突变引起的补体介导的溶血性尿毒症综合征1例报告

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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