Journal of investigative medicine high impact case reports最新文献_第4页

Lymphocytic Esophagitis: Navigating an Uncharted Territory. 淋巴细胞性食管炎：探索未知领域。

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

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

Idiopathic Nodular Glomerulosclerosis in a Long-term Passive Smoker With Recently Diagnosed Hypertension: A Case Report. 长期被动吸烟者新近诊断为高血压的特发性结节性肾小球硬化1例报告。

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

Dust to Disease: Cavitary Lung Lesion With Mycobacterium kansasii in a Black Lung Patient. 粉尘对疾病的影响：一例黑肺患者的肺腔性病变伴堪萨斯分枝杆菌。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-06-25 DOI: 10.1177/23247096251348906

Naga Vamsi Krishna Machineni, Dedeepya Gullapalli, Shivendra Tangutoori, Anusha Tipparthi, Simmy Lahori, Fares Khater, Subramanya Shyam Ganti

引用次数: 0

Blastoid Mantle Cell Lymphoma Presenting as an Isolated Cecal Mass. 囊胚套细胞淋巴瘤表现为孤立的盲肠肿块。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-03-17 DOI: 10.1177/23247096251325401

Lefika Bathobakae, Jorge L Lopez Cuello, Rammy Bashir, Heba Farhan, Irhoboudu D Atogwe, Yana Cavanagh

{"title":"Blastoid Mantle Cell Lymphoma Presenting as an Isolated Cecal Mass.","authors":"Lefika Bathobakae, Jorge L Lopez Cuello, Rammy Bashir, Heba Farhan, Irhoboudu D Atogwe, Yana Cavanagh","doi":"10.1177/23247096251325401","DOIUrl":"10.1177/23247096251325401","url":null,"abstract":"Blastoid mantle cell lymphoma (B-MCL) is a rare and aggressive subtype of B-cell non-Hodgkin lymphoma characterized by a high proliferation index and poor prognosis. Gastrointestinal (GI) involvement, which is common in systemic mantle cell lymphoma (MCL), rarely presents as an isolated lesion. Herein, we describe a unique case of B-MCL presenting as an isolated cecal mass. The patient experienced acute-onset abdominal pain and melena and was found to have cecal wall thickening on imaging, with regional lymphadenopathy. Colonoscopy revealed a large ulcerated polypoid lesion in the cecum, and histopathology confirmed the diagnosis of B-MCL. The patient completed 4 cycles of bendamustine/rituximab regimen but was terminally extubated due to clinical deterioration. Although infrequent, MCL should be considered in the differential diagnosis of isolated GI masses. This case adds to the limited literature on B-MCL, which could potentially help with the formulation of diagnostic and treatment algorithms for this rare pathology.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251325401"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11915275/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143649197","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

HE-4 in the Diagnosis of Carcinoma of Ovary Presented as Unknown primary Carcinoma: A Case Report. HE-4在原发性未知卵巢癌中的诊断价值1例。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-06-18 DOI: 10.1177/23247096251344701

Shengmin Huang, Muhammad Tahir, Gardith Joseph, Richrd Wu, Jaron Tepper, Jen C Wang

引用次数: 0

Streptococcal Pharyngitis Complicated by Clinically Significant Rheumatic Myopericarditis: A Case Report. 链球菌性咽炎并发有临床意义的风湿性心包炎1例。

IF 0.8

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-07-31 DOI: 10.1177/23247096251362985

Amanda Nguyen, Garrett Cohen, Matthew Lam

{"title":"Streptococcal Pharyngitis Complicated by Clinically Significant Rheumatic Myopericarditis: A Case Report.","authors":"Amanda Nguyen, Garrett Cohen, Matthew Lam","doi":"10.1177/23247096251362985","DOIUrl":"10.1177/23247096251362985","url":null,"abstract":"Acute rheumatic fever (ARF) is a complication of streptococcal pharyngitis that can present with cardiac, joint, skin, and neurological symptoms. Cardiac manifestations most often involve valvular dysfunction, but can also include myocarditis or pericarditis. Although advances in healthcare have reduced the prevalence of streptococcal pharyngitis, and subsequently ARF, individual cases and outbreaks can still occur. We present a case of rheumatic myopericarditis in a 60-year-old White male who initially presented to the emergency department with sore throat for 6 days. Initial workup was largely unremarkable, and no microbiological testing was performed at that time. He was diagnosed with presumed viral pharyngitis and discharged home with supportive care. He returned 1 week later with pleuritic mid-sternal chest pain and dyspnea. Laboratory tests were significant for elevated inflammatory markers, cardiac enzyme markers, anti-streptolysin O titers, and Streptococcus pyogenes bacteremia. Further evaluation revealed pericarditis, moderate pericardial effusion without tamponade, and reduced systolic function without valvular disease. The patient was diagnosed with rheumatic myopericarditis. Management included pericardial drainage, guideline-directed medical therapy for systolic heart failure and pericarditis, and primary treatment and secondary prevention of ARF with antibiotics. Currently, the patient's cardiac function has recovered, and he regularly follows up with his medical care team. Although less common in present times, clinicians are encouraged to consider streptococcal pharyngitis and ARF on the differential diagnosis for patients presenting with pharyngeal symptoms and subsequent cardiac manifestations, with or without valvular dysfunction. Primary and secondary prevention of ARF is paramount to maintaining the low incidence of this disease.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251362985"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12317263/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144753574","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

Cardiac Tamponade as the Initial Presentation of Squamous Cell Carcinoma of the Lung: A Case Report and Literature Review. 心脏填塞是肺鳞状细胞癌的最初表现：1例报告及文献复习。

IF 0.8

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-08-30 DOI: 10.1177/23247096251367696

Vijay Bharti, Zakaria Alagha, Michael Smith, Sohaib Syed, Alaadin Al-Astal, Swapna Sirigireddy, Yousef Shweihat, Amro Al-Astal

{"title":"Cardiac Tamponade as the Initial Presentation of Squamous Cell Carcinoma of the Lung: A Case Report and Literature Review.","authors":"Vijay Bharti, Zakaria Alagha, Michael Smith, Sohaib Syed, Alaadin Al-Astal, Swapna Sirigireddy, Yousef Shweihat, Amro Al-Astal","doi":"10.1177/23247096251367696","DOIUrl":"https://doi.org/10.1177/23247096251367696","url":null,"abstract":"Squamous cell carcinoma (SCC) of the lung, a subtype of nonsmall cell lung cancer (NSCLC), uncommonly causes pericardial effusion. Pericardial effusions occur in 10% to 12% of lung cancer cases but are rarely the initial presentation. We report a case of a 68-year-old male with type II diabetes mellitus and chronic obstructive pulmonary disease who presented with right upper quadrant pain, dyspnea, and anorexia, suspicious of hepatobiliary disease. Imaging incidentally revealed a large pericardial effusion causing cardiac tamponade. Cytology of pericardial fluid identified malignancy, and biopsy of a mass found on subsequent chest computerized tomography diagnosed SCC of the lung. The patient experienced respiratory failure accompanied by bilateral pneumothorax, leading to the decision to initiate hospice care. Pericardial effusion warrants prompt echocardiography and pericardiocentesis with cytology. NSCLC-related effusions signify stage IV disease, managed palliatively with immunotherapy and chemotherapy. This case emphasizes the critical importance of evaluating pericardial effusions for malignancy, even in instances where the presentation may be atypical. We present a case of malignant cardiac tamponade that was obscured by underlying hepatobiliary disease. Maintaining a high level of suspicion for malignant effusions is essential, as failure to do so may lead to increased morbidity in patients with undiagnosed malignancies.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251367696"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12399826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957218","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

A Rare Case of Scleroderma Renal Crisis. 罕见硬皮病肾危象1例。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-04-25 DOI: 10.1177/23247096251336565

Ariel Ahl, Harendra Ipalawatte, Saif Ghias, Arian Gower

{"title":"A Rare Case of Scleroderma Renal Crisis.","authors":"Ariel Ahl, Harendra Ipalawatte, Saif Ghias, Arian Gower","doi":"10.1177/23247096251336565","DOIUrl":"https://doi.org/10.1177/23247096251336565","url":null,"abstract":"Scleroderma renal crisis is a rare, life-threatening complication of systemic sclerosis. It is characterized by pronounced hypertension, acute kidney injury, and thrombotic microangiopathy. Although its prevalence has decreased over the last decade, and death rates have declined since the introduction of treatment with Angiotensin converting enzyme (ACE)-inhibitors, it remains a challenge due to lack of prevention and rapid progression despite intervention in those who develop renal crisis. We present a 46-year-old female with history of rheumatoid arthritis and scleroderma who presented to the Emergency Department (ED) with complaints of a severe headache associated with nausea and vomiting that started earlier in the day. Patient presented with a blood pressure of 180/103 that did not improve with use of anti-hypertensive medications. Labs were remarkable for anemia and decreased renal function. A CT of the abdomen and pelvis without contrast demonstrated distention of distal esophagus with possible underlying esophageal dysmotility due to degree of distention and dependent areas of tractional bronchiectasis in the bilateral lower lobes that can be seen in the setting of early interstitial lung disease. Treatment with an ACE-inhibitor was initiated, with improvement in blood pressure and resolution of headache. This case demonstrates another rare case and illustrates the importance of rapid recognition and treatment.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251336565"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035258/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017639","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

Giant Right Atrial Myxoma Presenting With Right Heart Failure. 巨大右心房黏液瘤表现为右心衰。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-03-27 DOI: 10.1177/23247096251329706

Priya Ramcharan, Arun Katwaroo, Matthew Maharaj, Valmiki Seecheran, Dayna Lalchansingh, Rajeev Seecheran, Shari Khan, Naveen Seecheran

引用次数: 0