Journal of investigative medicine high impact case reports最新文献_第10页

Scorpion-Induced Acute Coronary Syndrome: A Stinging Complication. 蝎子引发的急性冠状动脉综合征：刺痛并发症。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241261255

Arun Katwaroo, Kristianne Austin, Alexandria Bharat, Varun Chatoo, Priya Ramcharan, Valmiki Seecheran, Rajeev Seecheran, Stanley Giddings, Naveen Anand Seecheran

引用次数: 0

Paws and Pathogens: A Multidisciplinary Approach Through Bartonella henselae Endocarditis and Hepatosplenic T-Cell Lymphoma. 爪子与病原体：通过鸡巴顿氏菌心内膜炎和肝脾T细胞淋巴瘤的多学科方法。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241262718

Zoheb Irshad Sulaiman, Mark Schwade, Jesse T Raposa, Shreya Desai, Gem Mohan, Pascha E Schafer, Ashley L Huggett

{"title":"Paws and Pathogens: A Multidisciplinary Approach Through Bartonella henselae Endocarditis and Hepatosplenic T-Cell Lymphoma.","authors":"Zoheb Irshad Sulaiman, Mark Schwade, Jesse T Raposa, Shreya Desai, Gem Mohan, Pascha E Schafer, Ashley L Huggett","doi":"10.1177/23247096241262718","DOIUrl":"10.1177/23247096241262718","url":null,"abstract":"Bartonella species are gram-negative coccobacilli that are globally recognized as significant pathogens causing zoonotic infections. Among Bartonella species, B. henselae, B. quintana, and B. bacilliformis are prominent pathogens causing infections in humans, often manifesting as infective endocarditis. Bartonella endocarditis can pose diagnostic challenges due to its indolent presentation and limitations of standard microbiological culture techniques to identify the organism. We report a case of a 23-year-old male, who initially presented with the manifestations of hepatosplenic T-cell lymphoma, later diagnosed with blood culture-negative endocarditis caused by B. henselae. The patient had a complicated clinical course including pancytopenia, hepatosplenomegaly, and severe aortic valve regurgitation. Despite negative blood cultures, diagnostic clues included persistent fevers and bicuspid aortic valve with abscess. High Bartonella IgG titers (>1:800) supported the diagnosis. This case underscores the importance of considering Bartonella species in patients with suspected endocarditis, particularly in those with predisposing factors and negative blood cultures. Diagnosis relies heavily on serologic assays due to low sensitivity of conventional culture methods. Treatment involves a multidisciplinary approach with antibiotics and surgical intervention for optimal outcomes. Timely recognition and management are crucial to mitigate the high mortality associated with Bartonella endocarditis, and we hope this article offers insight for clinicians.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241262718"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11268036/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141751875","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

Checkpoint Inhibitor Induced Acute Liver Failure. 检查点抑制剂诱发的急性肝衰竭

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241261505

Chukwunonso Ezeani, Ogochukwu Ugochukwu, Adejoke Johnson, Daniel Lavie, Ryan Chauvin

引用次数: 0

Metastatic Non-Small-Cell Lung Cancer Presenting as Renal Failure From IgA Nephropathy. 转移性非小细胞肺癌表现为 IgA 肾病引起的肾衰竭

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241262515

Samer Yassin, Sruthi Athota, Afnan Khan, Vraj Patel, James Williams, Suyash Dwived

{"title":"Metastatic Non-Small-Cell Lung Cancer Presenting as Renal Failure From IgA Nephropathy.","authors":"Samer Yassin, Sruthi Athota, Afnan Khan, Vraj Patel, James Williams, Suyash Dwived","doi":"10.1177/23247096241262515","DOIUrl":"10.1177/23247096241262515","url":null,"abstract":"Studies have highlighted a potential link between malignancies and immunoglobulin A nephropathy (IgAN). In such studies, the treatment of malignancy improved the symptoms of IgAN. Here, we report a patient case involving a history of hypertension, tobacco use disorder, and chronic kidney disease (CKD) presenting with hematuria with acute renal failure secondary to IgAN per renal biopsy. Prompted by this association, a malignancy workup was performed including computed tomography (CT) body imaging and biopsies of mediastinal and cervical lymph nodes which revealed a metastatic adenocarcinoma. Current knowledge includes a general mechanism behind the development of IgAN that points toward glomerular deposition of tumor-specific immunoglobulin A (IgA) immunoglobulins. However, the association of IgAN and malignancy has no definitive management guidelines. This clinical case serves as an important contribution in the hopes of future development of guidelines regarding the surveillance and management of IgAN in the setting of malignancy.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241262515"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11295218/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141859956","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

Unusual Urothelial Tumors and Refractory Uremia Due to Balkan Endemic Nephropathy: A Case Report. 巴尔干地方性肾病导致的异常尿路肿瘤和难治性尿毒症：病例报告。

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241238529

Gevorg Arabyan, Raphi Hambartzhumian, Anthony Lim, Marrey Quizon, Julia Oberndorf, Michael A Sanford

{"title":"Unusual Urothelial Tumors and Refractory Uremia Due to Balkan Endemic Nephropathy: A Case Report.","authors":"Gevorg Arabyan, Raphi Hambartzhumian, Anthony Lim, Marrey Quizon, Julia Oberndorf, Michael A Sanford","doi":"10.1177/23247096241238529","DOIUrl":"10.1177/23247096241238529","url":null,"abstract":"Balkan endemic nephropathy (BEN) is a rare progressive chronic renal disease found in residents living along the Balkan peninsula. We present a 92-year-old female who complained initially of cardio-respiratory symptoms and was found to have an acute hypoxemic respiratory failure with hypervolemia. The patient underwent computed tomography imaging and was found to have bilateral pleural effusions and moderate left-sided renal atrophy with left-sided hydronephrosis. The patient underwent diuresis for fluid overload and was treated with broad-spectrum antibiotics for hospital-acquired pneumonia. Further urological work-up revealed masses in the posterior bladder wall and left ureteropelvic junction. A biopsy of the posterior bladder wall mass confirmed high-grade papillary urothelial carcinoma. A review of the epidemiological history revealed the patient lived in Kosovo/former Yugoslavia for several decades following birth. A review of old records revealed the patient had chronic kidney disease (CKD) that was not fully explained by other causes, such as hypertension or diabetes. Given the epidemiological history, accelerated CKD, and unusual locations of urothelial carcinoma, the patient was diagnosed with BEN. Despite medical management and hemodialysis, the patient's renal function and mental status continued to deteriorate, and the decision was made to proceed with palliative care measures.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241238529"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10946070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140143674","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

An Unpleasant Souvenir: Whipworm as an Incidental Finding During a Screening Colonoscopy. 令人不快的纪念品在结肠镜检查中意外发现鞭虫。

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096231224328

Lefika Bathobakae, Tyler Wilkinson, Saif Yasin, Rammy Bashir, Nargis Mateen, Ruhin Yuridullah, Yana Cavanagh, Walid Baddoura, Jin Suh

{"title":"An Unpleasant Souvenir: Whipworm as an Incidental Finding During a Screening Colonoscopy.","authors":"Lefika Bathobakae, Tyler Wilkinson, Saif Yasin, Rammy Bashir, Nargis Mateen, Ruhin Yuridullah, Yana Cavanagh, Walid Baddoura, Jin Suh","doi":"10.1177/23247096231224328","DOIUrl":"10.1177/23247096231224328","url":null,"abstract":"Trichuriasis is a neglected tropical disease caused by Trichuris trichiura that spreads through the ingestion of embryonated eggs in contaminated soil, water, or food. In nonendemic areas, T trichiura infestation is very rare and sporadic and is often diagnosed in immigrants from endemic countries such as the Philippines. Whipworms feed on human blood and also erode the colonic mucosa, thereby evoking an inflammatory response. In milder forms, trichuriasis can be asymptomatic and often an incidental diagnosis on screening colonoscopy. Heavily infested patients usually present with abdominal pain, nausea, vomiting, tenesmus, chronic diarrhea, iron deficiency anemia, or stunted growth. T trichiura worms can be removed with biopsy forceps during a colonoscopy; however, most patients require a course of albendazole, mebendazole, or ivermectin. We describe a unique case of T trichiura as an incidental finding during a screening colonoscopy. The whipworms were retrieved using biopsy forceps and the patient was treated with albendazole. At the time of the colonoscopy, the patient did not exhibit any specific symptoms related to the worm infestation.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096231224328"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10777755/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139403211","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

Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers. 线粒体 HMG-CoA 合成酶缺乏症：一种无可靠生化标记物的周期性呕吐模拟物

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241267154

Annie D Niehaus, Holly Cooper, Chung U Lee

{"title":"Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers.","authors":"Annie D Niehaus, Holly Cooper, Chung U Lee","doi":"10.1177/23247096241267154","DOIUrl":"10.1177/23247096241267154","url":null,"abstract":"Here, we report an individual, eventually diagnosed with HMG-CoA synthase deficiency, who presented with a cyclic vomiting phenotype. HMG-CoA synthase deficiency is a rare disorder affecting ketone body synthesis in which affected individuals typically present at a young age with hypoketotic hypoglycemia, lethargy, encephalopathy, and hepatomegaly, usually triggered by catabolism (e.g., infection or prolonged fasting). This individual presented with recurrent episodes of vomiting and lethargy, often associated with hypoglycemia or hyperglycemia, at 3 years of age. Metabolic labs revealed nonspecific abnormalities in her urine organic acids (showing mild elevation of dicarboxylic acids with relatively low excretion of ketones) and a normal acylcarnitine profile. Given her clinical presentation, as well as a normal upper gastrointestinal series, esophagogastroduodenoscopy with biopsies, and abdominal ultrasound, she was diagnosed with cyclic vomiting syndrome at 3 years of age. Molecular testing completed at 7 years of age revealed a previously reported pathogenic sequence variant (c.1016+1G>A) and a novel likely pathogenic deletion (1.57 kB deletion, including exon 1) within HMGCS2 consistent with HMG-CoA synthase deficiency. This individual's presentation, mimicking cyclic vomiting syndrome, widens the clinical spectrum of HMG-CoA synthase deficiency. In addition, this case highlights the importance of molecular genetic testing in such presentations, as this rare disorder lacks specific metabolic markers.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241267154"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11325301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141982476","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

Atypical Site of Presentation of a Rare Type of SMARCA4-Positive Cutaneous Squamous Cell Carcinoma of the Skin: Case Report and Review of the Literature. 一种罕见的 SMARCA4 阳性皮肤鳞状细胞癌的非典型发病部位：病例报告与文献综述。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241271977

Ruchi Yadav, Shaun Din, Harry Moussaris, Vivek Yadav, Shakthi Raman, Anjula Gandhi, Boris Avezbakiyev, J C Wang

{"title":"Atypical Site of Presentation of a Rare Type of SMARCA4-Positive Cutaneous Squamous Cell Carcinoma of the Skin: Case Report and Review of the Literature.","authors":"Ruchi Yadav, Shaun Din, Harry Moussaris, Vivek Yadav, Shakthi Raman, Anjula Gandhi, Boris Avezbakiyev, J C Wang","doi":"10.1177/23247096241271977","DOIUrl":"10.1177/23247096241271977","url":null,"abstract":"Cutaneous squamous cell carcinoma (cSCC) comprises 20% of cases of nonmelanoma skin cancers in the United States. In total, 3% to 5% of squamous cell carcinoma (SCC) are metastatic at the time of presentation, associated with significant mortality due to a lack of standardized treatment options. In total, 95% of these tumors are amenable to the initial standard of treatment, which is surgical resection. However, a small percentage of them require systemic therapy as they are either locally advanced to regional lymph nodes or have distant metastasis. The common sites of presentation of cSCC are the scalp and the face with predictable spread to the intra-parotid, upper jugular, and perifacial lymph nodes. In our case report, however, our patient had a large lump lesion on the upper back, an unusual site of presentation of cSCC, with locally advanced metastasis to the left axillary lymph nodes. Subsequently, the tumor marker study revealed a positive SMARCA4 variant (the essential ATPase subunit of the Switch (SWI)/Sucrose Nonfermenting (SNF) chromatin-remodeling complex) that is even rarer in the context of cSCC. Furthermore, abnormalities in SWI/SNF chromatin-remodeling complex subunits have shown promising results as a target therapy for immune checkpoint inhibitor (ICI) therapy. We present an atypical presentation site of locally advanced rare variant SMARCA4-positive cSCC in a patient who received treatment with chemoradiation and systemic therapy with ICI after primary surgical resection. To date, only 2 cases of SMARCA4-positive cSCC were found in the literature with no details of the treatment received. Our case is unique in its atypical site of presentation as well as showing partial response to radiotherapy (RT) and systemic therapy with ICI.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241271977"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11366091/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142108194","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

Misdiagnosed Asthma Turned Out to Be Bronchial Fibroepithelial Polyp: Case Report and Review of Literature. 哮喘误诊为支气管纤维上皮性息肉：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: 10.1177/23247096241248981

Deeb Salahaldeen, Shatrit Hanin, Shawar Dana, Arman Dana, Wafi Khalil, Fatayer Mohammad, Abuasbeh Yousef

{"title":"Misdiagnosed Asthma Turned Out to Be Bronchial Fibroepithelial Polyp: Case Report and Review of Literature.","authors":"Deeb Salahaldeen, Shatrit Hanin, Shawar Dana, Arman Dana, Wafi Khalil, Fatayer Mohammad, Abuasbeh Yousef","doi":"10.1177/23247096241248981","DOIUrl":"10.1177/23247096241248981","url":null,"abstract":"Bronchial fibroepithelial polyps are exceedingly rare with few cases have been reported. They can manifest with a wide array of symptoms; ranging from being totally asymptomatic, cough, refractory dyspnea, and hemoptysis. In our case, our patient's condition was diagnosed and was managed as asthma. It is one of the rare benign conditions to be encountered, shares similar morphology with other tumors such as angiomyofibroblastoma, aggressive angiomyxoma, and cellular angiofibroma. These lesions have a slow growth pattern which may end up with obstruction. According to the tumor size and symptoms caused by it, treatment varies from observation to complete resection. This case describes an incidental finding of fibroepithelial polyp in the main bronchus for a patient with long-term refractory cough for 5 years, was misdiagnosed to have asthma. Diagnosis typically involves imaging and bronchoscopy, followed by appropriate therapeutic measures and careful monitoring to assess the prognosis.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241248981"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11060025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140859376","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

An Unexpected Lymphoma: A Rare Case of Primary Gastric Burkitt's Lymphoma. 意想不到的淋巴瘤罕见的原发性胃伯基特淋巴瘤病例。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241253341

Jonathan London, Sabrina Bulancea, Sharnjyot Wander, Shirley Ponnaiya, Leilah Tisheh, Sanjeev Jain, Prakash Viswanathan, Zubin Tharayil

引用次数: 0