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

Is There a Baby in the Lung? A Case of Placental Transmogrification of the Lung. 肺里有婴儿吗？一例胎盘肺变性病例。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241261322

Mohammad Abdulelah, Nicole Kasher, Gabriella Primera, Jessika Matta, Ruchi Patel, Karim Anis, Ernest DiNino

引用次数: 0

A Rare Case of Anti-TIF-1γ Antibody Positive Dermatomyositis in Adulthood. 一例罕见的成年期抗 TIF-1γ 抗体阳性皮肌炎病例

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241263065

Upasana Agrawal, Manush Sondhi, Alexandra Zamora Smith, Syeda Sara Nida, Sarwat Umer, Samina Hayat, Kinza Muzaffar

引用次数: 0

Usage of Padlock Over-the-Scope-Clip in Difficult-to-Control Recurrent Gastrointestinal Bleeding Due to a Gastric Dieulafoy Lesion. 在胃蝶鞍病变导致的难以控制的复发性消化道出血中使用挂锁式蝶鞍夹。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241263062

John Joyce, Vishnu Kumar, Dayana Nasr, Ganesh Aswath, Hafiz M Khan, Savio John

引用次数: 0

Cefepime Neurotoxicity in Patients With Normal Renal Function: An Overlooked Cause of Encephalopathy in the Intensive Care Unit. 肾功能正常患者的头孢吡肟神经毒性：重症监护病房脑病的一个被忽视的原因。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241259534

Zakaria Alagha, Samuel Crow, Abdul Muhsen Z Abdeen, Maha Alastal, Amro Alastal

引用次数: 0

Sarcoidosis Presenting as Granulomatous Mastitis, Erythema Nodosum, and Arthritis Syndrome: A Case Report and Comprehensive Review of the Literature. 肉样瘤病表现为肉芽肿性乳腺炎、结节性红斑和关节炎综合征：病例报告和文献综述。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241267146

Aseel Abuhammad, Maram Albandak, Mohammed Ayyad, Arein Madia, Osama N Dukmak, Laith Alamleh

{"title":"Sarcoidosis Presenting as Granulomatous Mastitis, Erythema Nodosum, and Arthritis Syndrome: A Case Report and Comprehensive Review of the Literature.","authors":"Aseel Abuhammad, Maram Albandak, Mohammed Ayyad, Arein Madia, Osama N Dukmak, Laith Alamleh","doi":"10.1177/23247096241267146","DOIUrl":"10.1177/23247096241267146","url":null,"abstract":"Granulomatous mastitis (GM) is a long-term inflammatory disease of the breast that usually occurs in women of reproductive age. Autoimmune mastitis is one of the most common pathological breast conditions necessitating tailored treatment. However, GM as a first clinical manifestation of sarcoidosis is uncommon. Simultaneous occurrence of GM, erythema nodosum (EN), and arthritis, termed \"GMENA\" syndrome, is a rare clinical entity associated with autoimmune rheumatic diseases. Herein, we report the case of a 31-year-old female patient with GMENA syndrome, who presented with a painful nodule of the left breast. Initial treatment entailed antibiotics under the presumption of a breast abscess, yielding negligible improvement. During this period, the patient developed polyarthritis and bilateral EN on the lower extremities. Histopathologic examination of the breast tissue exhibited noncaseating granulomas. The patient responded positively to prednisolone and methotrexate treatment. Literature review revealed a coherent pattern across GMENA cases. Our findings suggest that the \"GMENA\" syndrome represents a unique acute manifestation of sarcoidosis and highlight the necessity for heightened awareness, accurate diagnosis, and tailored therapeutic approaches for GMENA syndrome. Further research is warranted to elucidate its cause and optimize patient management. This case highlights the importance of identifying and effectively managing such interrelated clinical presentations.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241267146"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11284773/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141788344","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

Neonatal Chronic Granulomatous Disease With Septic Arthritis and Osteomyelitis: Diagnostic and Therapeutic Challenge With Literature Review.

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241304534

Sura Abd Alwahab, Hussein Mohsin Hasan, Nabeel Al-Fatlawi, Sajjad Ghanim Al-Badri

{"title":"Neonatal Chronic Granulomatous Disease With Septic Arthritis and Osteomyelitis: Diagnostic and Therapeutic Challenge With Literature Review.","authors":"Sura Abd Alwahab, Hussein Mohsin Hasan, Nabeel Al-Fatlawi, Sajjad Ghanim Al-Badri","doi":"10.1177/23247096241304534","DOIUrl":"10.1177/23247096241304534","url":null,"abstract":"This case report underlines the diagnostic and therapeutic dilemmas in a 19-day-old neonate who had presented with features suggestive of chronic granulomatous disease (CGD). The baby had a history of fever, lethargy, and masses on the skin, for which an extensive diagnostic workup was needed to rule out infective etiology given no improvement with initial empiric therapy. Laboratory investigations, including imaging and genetic studies, confirmed the diagnosis of CGD. In addition to the very early manifestation of disease, which is quite rare, our case emphasizes the importance of maintaining a high index of suspicion for immunodeficiency disorders in neonates with severe infections. The report highlights the fact that a high level of suspicion for an underlying immunodeficiency, especially conditions like CGD, must be maintained in neonates with unexplained symptoms, and the diagnosis has to be multidisciplinary in terms of management. Considering its rare inflammatory complications in neonatal CGD, the present case adds important data to the pediatric medical literature. It emphasizes that critical clinical evaluation and detailed diagnostic procedures are mandatory in cases of rare neonatal sepsis and inflammatory disorders.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241304534"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11624527/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142790641","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

Tocilizumab Treatment in a Patient of Refractory Anti-EJ Positive ASyS: A Case Report. 托西珠单抗治疗难治性抗 EJ 阳性 ASyS 患者：病例报告。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241267153

Jin Jiajia, Li Jia, Wu Wanlong, Sun Shuhui, Wang Xiaodong, Ye Shuang

{"title":"Tocilizumab Treatment in a Patient of Refractory Anti-EJ Positive ASyS: A Case Report.","authors":"Jin Jiajia, Li Jia, Wu Wanlong, Sun Shuhui, Wang Xiaodong, Ye Shuang","doi":"10.1177/23247096241267153","DOIUrl":"10.1177/23247096241267153","url":null,"abstract":"Anti-synthetase syndrome (ASyS) is an autoimmune disease characterized by the presence of autoantibodies to aminoacyl-tRNA synthetases accompanied with various organ involvements, including the lung, joints, and skin. The ASyS-related interstitial lung disease (ILD) can be seen in the vast majority of patients. The extent of lung involvement has a significant impact on patient prognosis; the occurrence of rapid-progressive ILD could prominently increase mortality. The mainstay of treatment is prednisone in combination with conventional synthetic disease-modifying anti-rheumatic drugs or some biologic disease-modifying anti-rheumatic drugs (DMARDs). Tocilizumab (TCZ), a recombinant humanized anti-interleukin (IL)-6 receptor monoclonal antibody, has also been used to treat some systemic autoimmune rheumatic diseases associated with ILD. Although the most recent American College of Rheumatology (ACR) Guideline for the Treatment of Interstitial Lung Disease conditionally recommends against the use of TCZ as a treatment option for people with idiopathic inflammatory myopathy (IIM)-ILD progression despite initial ILD treatment, the treatment effect of TCZ in ASyS patients remains obscure, particularly for refractory cases with anti-non-Jo1 antibodies. This report describes a case of Chinese ASyS patients with anti-EJ-positive antibodies who presented with typical proximal muscle weakness, elevated creatine kinase, and ILD with non-specific interstitial pneumonia (NSIP) pattern, along with typical skin involvement such as mechanic's hand. The patients were resistant to various treatments, including rituximab (RTX), but benefited from TCZ. In this case, TCZ shows good therapeutic efficacy in a fatal acute exacerbation of ILD with a hyperinflammatory status, resulting in a relative remission of the disease flare and full preservation of lung function with a positive long-term treatment outcome.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241267153"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11295210/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141859957","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

Belzutifan, HIF-2α Inhibitor, and Clear Cell Renal Cell Carcinoma With Somatic Von-Hippel-Lindau Loss-of-Function Mutation. HIF-2α抑制剂Belzutifan与具有体细胞Von-Hippel-Lindau功能缺失突变的透明细胞肾细胞癌。

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241231641

Kok Hoe Chan, Ningjing Li, Ran Lador, Mark Amsbaugh, Anneliese Gonzalez, Putao Cen

{"title":"Belzutifan, HIF-2α Inhibitor, and Clear Cell Renal Cell Carcinoma With Somatic Von-Hippel-Lindau Loss-of-Function Mutation.","authors":"Kok Hoe Chan, Ningjing Li, Ran Lador, Mark Amsbaugh, Anneliese Gonzalez, Putao Cen","doi":"10.1177/23247096241231641","DOIUrl":"10.1177/23247096241231641","url":null,"abstract":"The Von-Hippel-Lindau (VHL) gene, acting as a tumor suppressor, plays a crucial role in the tumorigenesis of clear cell renal cell carcinoma (ccRCC). Approximately 90% of individuals with advanced ccRCC exhibit somatic mutations in the VHL gene. Belzutifan, orally administered small-molecule inhibitor of hypoxia-induced factor-2α, has demonstrated promising efficacy in solid tumors associated with germline loss-of-function mutations in VHL, including ccRCC. However, its impact on cases with somatic or sporadic VHL mutations remains unclear. Here, we present 2 cases where belzutifan monotherapy was employed in patients with advanced ccRCC and somatic loss-of-function mutations in VHL. Both patients exhibited a swift and sustained response, underscoring the potential role of belzutifan as a viable option in second or subsequent lines of therapy for individuals with somatic VHL mutations. Despite both patients experiencing a pulmonary crisis with respiratory compromise, their rapid response to belzutifan further emphasizes its potential utility in cases involving pulmonary or visceral crises. This report contributes valuable insights into the treatment landscape for advanced ccRCC with somatic VHL mutations.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241231641"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10863383/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139722979","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 Case of Infective Endocarditis Caused by Citrobacter koseri: Unraveling a Rare Pathogen and Dire Outcome. 一例由科氏柠檬酸杆菌引发的感染性心内膜炎：揭开罕见病原体和严重后果的神秘面纱。

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241239544

Divisha Sharma, Zoheb I Sulaiman, Patrick J Tu, Sean Harrell, Stuart Cavalieri, Peter J Skidmore, Stephanie L Baer

{"title":"A Case of Infective Endocarditis Caused by Citrobacter koseri: Unraveling a Rare Pathogen and Dire Outcome.","authors":"Divisha Sharma, Zoheb I Sulaiman, Patrick J Tu, Sean Harrell, Stuart Cavalieri, Peter J Skidmore, Stephanie L Baer","doi":"10.1177/23247096241239544","DOIUrl":"10.1177/23247096241239544","url":null,"abstract":"Citrobacter koseri (formerly classified as Citrobacter diversus) is a gram-negative bacillus (GNB) that occurs as an opportunistic pathogen in neonates and immunocompromised patients. Citrobacter species have been implicated in nosocomial settings leading to infections involving the urinary tract, respiratory tract, liver, biliary tract, meninges, and even in rarer conditions-blood stream infection and infective endocarditis (IE). Gram-negative bacilli are responsible for 3% to 4% of all IE cases and have been traditionally associated with intravenous drug users. Patients with non-HACEK (species other than Haemophilus species, Actinobacillus actinomycetemcomitans, Cardiobacterium hominis, Eikenella corrodens, or Kinglella species) GNB IE have poor clinical outcomes with higher rates of in-hospital mortality and complications. The American Heart Association (AHA) and Infectious Diseases Society of America (IDSA) both recommend the use of combination antibiotic therapy with a beta-lactam (penicillins, cephalosporins, or carbapenems) and either an aminoglycoside or fluoroquinolones for 6 weeks (about 1 and a half months) to treat IE due to non-HACEK GNB. Citrobacter koseri is becoming more recognized due to its inherent resistance to ampicillin and emerging drug resistance to beta lactams and aminoglycosides requiring carbapenem therapy. Our case is of a 75-year-old male with no previously reported history of primary or secondary immunodeficiency disorders who developed C koseri blood stream infection. His infectious work-up revealed mitral valve IE and septic cerebral emboli resulting in ischemic infarcts. This case illustrates the importance of recognizing GNB organisms as rising human pathogens in IE cases even without active injection drug use or nosocomial exposure.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241239544"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10996352/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140855472","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

Clinical Features of Cutaneous Paraneoplastic Syndromes in Hodgkin Lymphoma. 霍奇金淋巴瘤皮肤副肿瘤综合征的临床特征。

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241255840

Benjamin J McCormick, Daniel Zieman, Jason C Sluzevich, Muhamad Alhaj Moustafa

引用次数: 0