Journal of investigative medicine high impact case reports最新文献_第9页

AIDS-Associated BK Virus Nephropathy in Native Kidneys: A Case Report and Review of the Literature. 原生肾中的艾滋病相关 BK 病毒肾病：病例报告和文献综述。

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241232202

Niloufar Ebrahimi, Maha Al Baghdadi, Craig W Zuppan, Daniel K Rogstad, Amir Abdipour

{"title":"AIDS-Associated BK Virus Nephropathy in Native Kidneys: A Case Report and Review of the Literature.","authors":"Niloufar Ebrahimi, Maha Al Baghdadi, Craig W Zuppan, Daniel K Rogstad, Amir Abdipour","doi":"10.1177/23247096241232202","DOIUrl":"10.1177/23247096241232202","url":null,"abstract":"BK virus (BKV) is a small DNA virus, a member of the polyomavirus family, that causes an opportunistic infection in immunocompromised patients, especially kidney transplant patients. This virus establishes a lifelong infection in most of the population, and once it reactivates in an immunocompromised state, leads to BKV nephropathy. This review seeks to assess the correlation between severe immunosuppression, evident by low CD4 cell counts in HIV-positive patients, and the reactivation of BKV, causing nephropathy. A literature review was conducted, extracting, and analyzing case reports of HIV-positive patients showing correlations between their degree of immunosuppression, as evidenced by their CD4 counts, and the degree of BKV infectivity, confirmed by kidney biopsy. A total of 12 cases of BKV nephropathy in HIV-infected patients were reviewed. A common finding was the presence of profound immunosuppression, with most patients having CD4 counts ≤50 cells/ mm3. A substantial number also had comorbid malignancies, with some undergoing chemotherapy, potentially increasing the risk of BKV reactivation. In addition to the HIV status and malignancies, other risk factors for BKV reactivation included older age, male gender, diabetes mellitus, Caucasian race, and ureteral stent placement. BKV nephropathy in HIV patients with native kidneys is closely correlated with severe immunosuppression. Although therapeutic strategies exist for post-transplant patients, aside from the treatment of HIV with highly active anti-retroviral therapy (HAART), which potentially helps with clearing BKV by increasing CD4 count, there is no definitive treatment for a native kidney BKV nephropathy in patients with AIDS. The complexity of the cases and severity of comorbidities indicate the need for further research to develop therapeutic strategies tailored to this population.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241232202"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10880537/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139905811","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

Beware of the Acute Respiratory Distress Syndrome in a Pulmonary Blastomycosis! 谨防肺疫急性呼吸窘迫综合征！

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241233042

Avinash Vangara, Dedeepya Gullapalli, Jayaram Krishna Depa, Sandhya Kolagatla, Muhammad Ali, Subramanya Shyam Ganti

{"title":"Beware of the Acute Respiratory Distress Syndrome in a Pulmonary Blastomycosis!","authors":"Avinash Vangara, Dedeepya Gullapalli, Jayaram Krishna Depa, Sandhya Kolagatla, Muhammad Ali, Subramanya Shyam Ganti","doi":"10.1177/23247096241233042","DOIUrl":"10.1177/23247096241233042","url":null,"abstract":"Blastomyces dermatitidis is a dimorphic fungus that can range from mild to severe disease presentation, including the acute respiratory distress syndrome (ARDS) based on the individual's immunity. Acute respiratory distress syndrome is an uncommon presentation having an incidence of about 10% to 15% but has a high mortality exceeding 90%. This is a case of a 50-year-old female with past medical history of asthma and type 2 diabetes mellitus who presented to the pulmonology clinic with worsening dyspnea for the last 2 months. She also had a lesion in the left lower back, which was draining purulent fluid. Chest radiographs showed bilateral infiltrates and was started empirically on vancomycin and piperacillin-tazobactam. Bronchoalveolar lavage was done and the cultures grew B dermatitidis. The patient was moved to a higher level of care and given amphotericin B. Unfortunately, the patient experienced septic shock, which later deteriorated into cardiac arrest, ultimately leading to their passing. The importance of early diagnosis of blastomycosis and timely treatment has been emphasized in this case report.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241233042"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10880536/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139905812","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

Facial Hyperpigmentation: A Rare Side Effect of Adalimumab. 面部色素沉着：阿达木单抗的罕见副作用

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241265896

Malek Mrad, Mariam Tabka, Asmahane Souissi, Ines Chelly, Mourad Mokni

引用次数: 0

Genetic Analysis of Vanishing Twin Syndrome Using Next-Generation Sequencing and Short Tandem Repeat Analysis: A Case Report and Literature Review. 使用新一代测序和短串联重复序列分析消失双胞胎综合征的遗传分析：1例报告和文献复习。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241304530

Hidemine Honda, Mika Handa, Tsuyoshi Takiuchi, Saori Tsuji, Takeshi Goto, Tatsuya Miyake, Tadashi Kimura

{"title":"Genetic Analysis of Vanishing Twin Syndrome Using Next-Generation Sequencing and Short Tandem Repeat Analysis: A Case Report and Literature Review.","authors":"Hidemine Honda, Mika Handa, Tsuyoshi Takiuchi, Saori Tsuji, Takeshi Goto, Tatsuya Miyake, Tadashi Kimura","doi":"10.1177/23247096241304530","DOIUrl":"10.1177/23247096241304530","url":null,"abstract":"Vanishing twin syndrome (VTS) refers to the spontaneous reduction of a fetus during multiple pregnancies, resulting in its invisibility during gestation. Vanishing twin syndrome is commonly identified through ultrasonographic examination in early pregnancy; nonetheless, the genetic causes of VTS are rarely detected. This report aimed to investigate the feasibility of genetic testing for VTS using low-coverage whole-genome sequencing and short tandem repeat (STR) analysis. We report a 39-year-old woman who underwent in vitro fertilization and conceived dichorionic diamniotic twins. The heartbeat of 1 fetus ceased at 11 weeks, leading to a diagnosis of VTS, whereas the surviving fetus developed normally and was delivered at full term. Placental examination revealed a rudimentary gestational sac adjacent to the placenta that correlated with the vanished fetus. Chorionic tissues were collected from the placenta of the live-born infant and the rudimentary gestational sac that was considered to have originated from the vanished fetus. Genetic testing of chorionic tissues from the gestational sac and placenta showed that both fetuses were monozygotic twins with a normal 46, XY male karyotype. However, a triallelic pattern at the Penta E locus was identified in the vanished fetus on STR analysis, which was a unique genetic characteristic. This report highlights the feasibility of genetic testing for VTS, despite the unclear relationship between the identified genetic pattern and the vanished fetus.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241304530"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11618943/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769542","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 Response to Osimertinib in a Non-Small-Cell Lung Cancer Patient With EGFR L833V/H835L Mutations: A Case Report. 一名表皮生长因子受体（EGFR）L833V/H835L突变的非小细胞肺癌患者对奥希替尼的临床反应：病例报告。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241300929

Jowan Al-Nusair, Reesha Bodiwala, Kemnasom Nwanwene, Mahmoud Abdallah, Mohamed Alshal, Toni Pacioles

{"title":"Clinical Response to Osimertinib in a Non-Small-Cell Lung Cancer Patient With EGFR L833V/H835L Mutations: A Case Report.","authors":"Jowan Al-Nusair, Reesha Bodiwala, Kemnasom Nwanwene, Mahmoud Abdallah, Mohamed Alshal, Toni Pacioles","doi":"10.1177/23247096241300929","DOIUrl":"10.1177/23247096241300929","url":null,"abstract":"Lung cancer, a leading cause of cancer mortality, often involves epidermal growth factor receptor (EGFR) mutations, common in 17% of Caucasian and 40% of Asian non-small-cell lung cancer (NSCLC) patients. While the exon 19 deletion and L858R mutation are prevalent, rare variants like L833V/H835L are less understood. This case reports a 75-year-old female with NSCLC harboring L833V/H835L mutations. Initial imaging showed a right upper lobe mass and nodularity in the left upper lobe. Biopsy confirmed adenocarcinoma, and genomic analysis identified EGFR L833V/H835L mutations. Based on these findings, the patient was treated with osimertinib 160 mg daily, reduced to 80 mg due to side effects. After 3 months, positron emission tomography (PET) scans revealed significant tumor reduction, and brain metastasis remained stable. This case demonstrates the efficacy of osimertinib for rare EGFR mutations, aligning with literature suggesting its potential for managing such variants. Although large-scale trials are impractical due to the rarity of these mutations, this report adds valuable evidence supporting osimertinib's use, highlighting the need for comprehensive genomic profiling in NSCLC.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241300929"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11603451/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142739674","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 Atrial Septal Mass Secondary to Lymphoma: Case Report and Review of Literature. 淋巴瘤继发心房隔膜肿块的罕见病例：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: 10.1177/23247096241273108

Amulya Prakash, Farhan Khalid, Haresh Gandhi, Dhyey Mungalpara

引用次数: 0

A Case Report of Pulmonary Vein Stenosis Within the Labyrinth of Fibrosing Mediastinitis. 纤维性纵隔炎迷宫内肺静脉狭窄病例报告

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241244729

Zakaria Alagha, Catherine Adams, Kylie Johnson, Amro Al-Astal

{"title":"A Case Report of Pulmonary Vein Stenosis Within the Labyrinth of Fibrosing Mediastinitis.","authors":"Zakaria Alagha, Catherine Adams, Kylie Johnson, Amro Al-Astal","doi":"10.1177/23247096241244729","DOIUrl":"10.1177/23247096241244729","url":null,"abstract":"This case centers on a 76-year-old male experiencing exertional dyspnea and hemoptysis, with a medical history marked by recurrent pulmonary embolism and chronic obstructive pulmonary disease (COPD). Notably, he resides in a histoplasmosis-endemic area. A computed tomography (CT) pulmonary embolism scan revealed notable findings, including an enlarged right lower pulmonary artery, vascular congestion, atelectasis, and a mass exerting pressure on the right lower pulmonary vein. Biopsy results identified the mass as fibrosing mediastinitis, likely attributed to histoplasmosis. A transthoracic echocardiogram indicated right ventricular dilatation, impaired function, and a right ventricular systolic pressure of 63 mm Hg. During right heart catheterization, the patient displayed disparate pulmonary artery wedge pressures (PAWPs) between the right and left sides. This discrepancy was linked to a blunted back wave from the left atrium to the catheter, induced by pulmonary vein compression. Although an infrequent phenomenon, the recorded asymmetry in PAWPs played a crucial role in guiding accurate patient management. The absence of subsequent evaluation of PAWP on the left side could have altered the treatment plan, potentially delaying appropriate patient care. This case emphasizes the necessity of thorough exploration with right heart catheterization when clinical symptoms warrant, highlighting the importance of standardized practices in such procedures.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241244729"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10996351/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140870450","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

Streptococcal Esophagitis in an Immunocompetent Patient: A Rare Sequelae. 免疫力低下患者的链球菌性食管炎：罕见的后遗症

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241271985

Lefika Bathobakae, Nader Mekheal, Derya Mücahit, Mina Fransawy Alkomos, Alisa Farokhian, Yana Cavanagh, Walid Baddoura

引用次数: 0

Double Hit in Clear-Cell Renal Cell Carcinoma With Germline Pathogenic ATM Mutation and Somatic VHL Mutation. 透明细胞肾细胞癌伴有种系致病性 ATM 基因突变和体细胞 VHL 基因突变的双击。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241286370

Kok Hoe Chan, Nicolas Duque Clavijo, Gustavo Ayala, Ryan Hall, Curtis Wray, Putao Cen

{"title":"Double Hit in Clear-Cell Renal Cell Carcinoma With Germline Pathogenic ATM Mutation and Somatic VHL Mutation.","authors":"Kok Hoe Chan, Nicolas Duque Clavijo, Gustavo Ayala, Ryan Hall, Curtis Wray, Putao Cen","doi":"10.1177/23247096241286370","DOIUrl":"10.1177/23247096241286370","url":null,"abstract":"While renal cell carcinoma (RCC) is often linked to smoking, obesity, and hypertension, hereditary forms also account for about 3% of RCC cases. Notably, NCCN guidelines identify 7 major hereditary syndromes associated with an increased RCC risk. Inherited mutations in DNA repair genes, such as ATM, BRCA, and TP53, significantly increase the risk of various cancers. Biallelic pathogenic mutations in ATM cause Ataxia-Telangiectasia (A-T) syndrome, while heterozygous germline pathogenic ATM mutations, present in about 1% of the population, also elevate cancer risk. RCC has not traditionally been associated with germline pathogenic ATM mutations, only limited retrospective analyses have identified such mutations. This case report presents a 68-year-old woman with a germline pathogenic ATM mutation (c.8786+1 G>A) who developed high-risk clear cell RCC followed by an acquired somatic VHL mutation in RCC and a 3-cm serous cystadenoma, illustrating the double-hit phenomenon. Her brother, who shares the same germline pathogenic mutation, was diagnosed with pancreatic cancer and prostate cancer. This case highlights the potential use for enhanced screening protocols for RCC in patients who have germline pathogenic ATM mutations and the importance of research in targeted treatments for tumors driven by dual genetic mechanisms. Increased awareness and vigilant screening for RCC are crucial in managing hereditary cancer syndromes effectively.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241286370"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11457202/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142377960","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 Multidisciplinary Approach to Staphylococcus aureus Triple-Valve Infective Endocarditis With Multi-Organ Involvement. 金黄色葡萄球菌三瓣感染性心内膜炎伴多器官受累的多学科治疗方法

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241265917

Seena Mansouri, Zoheb Irshad Sulaiman, Andrew W Chao

引用次数: 0