Journal of investigative medicine high impact case reports最新文献_第8页

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

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

A Unique Presentation of Bacterial Group G Streptococcus Myopericarditis. 细菌性 G 群链球菌心肌炎的独特表现。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241286363

Sacide S Ozgur, Nida Ansari, Alan Alcantara, Angela Pais Vidreiro, Ryan Rahman, Yezin Shamoon, Sherif Elkattawy, Rachel Abboud, Rajkumar Doshi, Fayez Shamoon

引用次数: 0

Peritoneal Dialysis-Associated Peritonitis Caused by Achromobacter xylosoxidans: A Case Report and Literature Review. 由木糖酸 Achromobacter xylosoxidans 引起的腹膜透析相关性腹膜炎：病例报告与文献综述

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096231220467

Ibrahim Tawhari, Samantha Saggese, Shatha S Alshahrani, Ghufran Asiri, Shatha A Alshahrani, Sarah Summan, Yousef Y Al Qasim, Yahya A Al Majbar

{"title":"Peritoneal Dialysis-Associated Peritonitis Caused by Achromobacter xylosoxidans: A Case Report and Literature Review.","authors":"Ibrahim Tawhari, Samantha Saggese, Shatha S Alshahrani, Ghufran Asiri, Shatha A Alshahrani, Sarah Summan, Yousef Y Al Qasim, Yahya A Al Majbar","doi":"10.1177/23247096231220467","DOIUrl":"10.1177/23247096231220467","url":null,"abstract":"Achromobacter xylosoxidans is a gram-negative bacterium that is responsible for rare peritonitis associated with peritoneal dialysis (PD). We present a case of a 64-year-old woman with a medical history of end-stage renal disease undergoing PD who was admitted to the emergency department with abdominal pain and nausea. Physical examination and laboratory studies revealed peritoneal signs and laboratory abnormalities consistent with peritonitis. Intraperitoneal catheter dysfunction was identified and subsequently resolved via laparoscopy. Following a peritoneal fluid culture, A xylosoxidans was identified, leading to the initiation of intraperitoneal meropenem treatment. After an initial improvement, the patient developed an ileus and recurrent abdominal symptoms, and further peritoneal cultures remained positive for A xylosoxidans. Subsequent treatment included intravenous meropenem and vancomycin for Clostridium difficile colitis. Owing to the high likelihood of biofilm formation on the PD catheter by A xylosoxidans, the catheter was removed, and the patient transitioned to hemodialysis. Intravenous meropenem was continued for 2 weeks post-catheter removal. This case highlights the challenges in managing recurrent peritonitis in PD patients caused by multidrug-resistant A xylosoxidans. A high index of suspicion, appropriate microbiological identification, and targeted intraperitoneal and systemic antibiotic treatment, along with catheter management, are crucial in achieving a favorable outcome in such cases.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096231220467"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10762871/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139074328","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 Solitary Endobronchial Plasmacytoma Presented With Complete Airway Obstruction: A Case Report. 罕见的孤立性支气管内浆细胞瘤伴完全气道阻塞1例。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241299282

Mohamad Banat, Anas Abukhalaf, Lilian Faqiat, Razan Takroori, Yousef Abu Asbeh

{"title":"A Rare Case of Solitary Endobronchial Plasmacytoma Presented With Complete Airway Obstruction: A Case Report.","authors":"Mohamad Banat, Anas Abukhalaf, Lilian Faqiat, Razan Takroori, Yousef Abu Asbeh","doi":"10.1177/23247096241299282","DOIUrl":"10.1177/23247096241299282","url":null,"abstract":"This case report presents a rare instance of solitary endobronchial plasmacytoma in a 58-year-old male, who had progressively worsening shortness of breath and a productive cough. The patient, who had a smoking history, was found to have a large, hypervascular mass completely obstructing the right main bronchus, confirmed as a plasma cell tumor via endoscopic biopsy. Further diagnostic imaging, including positron emission tomography-computed tomography (PET-CT) and chest CT, revealed a mass measuring 1.7 cm with abnormal fluorodeoxyglucose (FDG) uptake. The bone marrow biopsy ruled out multiple myeloma. The patient underwent challenging endoscopic debulking of the tumor, although margins were not well defined due to its size. Post-operatively, the patient showed significant symptomatic improvement and was discharged home on post-operative day 4. Two months after the procedure, follow-up with a chest CT scan and bronchoscopy showed no evidence of residual tumor or local recurrence, and the patient reported significant respiratory improvement. The literature review revealed that extramedullary plasmacytoma (EMP) is uncommon and often occurs in the upper aerodigestive tract. The diagnostic workup generally involves histopathological analysis, bronchoscopy, and imaging studies. Treatment is tailored to the patient's condition and the characteristics of the tumor. This case underscores the need for a high index of suspicion and comprehensive diagnostic evaluation of patients presenting with obstructive bronchial mass. Furthermore, it highlights the importance of considering endobronchial plasmacytoma in the differential diagnosis of obstructive bronchial masses and the value of early intervention in achieving favorable outcomes. Regular follow-up is crucial to monitor recurrence and ensure ongoing patient well-being.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241299282"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11618910/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769541","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 Late Recurrent Metastatic Breast Cancer Mimicking Primary Pancreatic Cancer: Case Report. 模仿原发性胰腺癌的晚期复发转移性乳腺癌：病例报告。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241261511

Saida Sakhri, Ines Zemni, Safa Jouini, Fethia Abidi, Nadia Boujelbene, Tarek Ben Dhiab

{"title":"A Late Recurrent Metastatic Breast Cancer Mimicking Primary Pancreatic Cancer: Case Report.","authors":"Saida Sakhri, Ines Zemni, Safa Jouini, Fethia Abidi, Nadia Boujelbene, Tarek Ben Dhiab","doi":"10.1177/23247096241261511","DOIUrl":"10.1177/23247096241261511","url":null,"abstract":"Metastasis to the pancreas from malignant tumors is a rare event, representing only 1% to 2% of all pancreatic neoplasms. They occur in 2 different clinicopathological settings: as a manifestation in widespread metastatic disease or as an isolated mass in the pancreas. We report the case of a 41-year-old woman who had a history of invasive lobular breast cancer treated with radical surgery, chemotherapy, and radiotherapy. After 21 years of total remission, she presented for severe lower back pain with jaundice, nausea, and loss of 9 kg in 3 months. Abdominal computed tomography demonstrated a hyper vascularized, irregular solid lesion of 2.6 cm × 2.1 cm in the head of the pancreas with discreet biliary duct dilatation and coelio-mesenteric enlarged lymph nodes measuring 2 cm. The diagnosis of pancreatic metastasis from a lobular breast carcinoma was made by percutaneous biopsy of pancreatic lesion. The multidisciplinary committee decided a palliative treatment. The patient received chemotherapy. The take home message from his case is that we should keep in mind the hypothesis of a solitary metastasis to the pancreas, when the pancreatic lesion develops in a patient who had a clinical history of previous neoplasm especially in those which is known to potentially metastasize to pancreas.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241261511"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11185037/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141331092","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

Colorectal Carcinoma-An Anomalous Trigger of Adult Hemophagocytic Lymphohistiocytosis. 结直肠癌--成人嗜血细胞淋巴组织细胞增多症的异常诱因。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241273131

Ameish Govindarajan, Frederick Venter, Akriti Chaudhry, Harsimranjit Kaur, Everardo Cobos, Greti Petersen

引用次数: 0

Catastrophic Case of West Nile Virus Rhombencephalitis in AIDS. 艾滋病患者西尼罗河病毒性黄斑脑炎的灾难性病例。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241267132

Rupam Sharma, Elika Salimi, Carlos D'Assumpcao, Michael Valdez, Akriti Chaudhry, Arash Heidari, Rasha Kuran, Janpreet Bhandohal

引用次数: 0