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

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

Marginal Zone Lymphoma Manifesting as Macrophage Activation Syndrome: A Case Report. 表现为巨噬细胞活化综合征的边缘区淋巴瘤：病例报告

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241244732

Niloufar Ebrahimi, Sahibzadi Mahrukh Noor, Shahram Kordasti, Mojtaba Akhtari, Sayna Norouzi, Mehrbod Vakhshoori, Amir Abdipour

{"title":"Marginal Zone Lymphoma Manifesting as Macrophage Activation Syndrome: A Case Report.","authors":"Niloufar Ebrahimi, Sahibzadi Mahrukh Noor, Shahram Kordasti, Mojtaba Akhtari, Sayna Norouzi, Mehrbod Vakhshoori, Amir Abdipour","doi":"10.1177/23247096241244732","DOIUrl":"10.1177/23247096241244732","url":null,"abstract":"Macrophage activation syndrome (MAS) is a form of secondary hemophagocytic lymphohistiocytosis (HLH) when it occurs in the context of rheumatologic disorders. HLH is a rare and potentially life-threatening syndrome characterized by excessive immune system activation. It is mainly seen in children and can be genetic based or related to infections, malignancies, rheumatologic disorders, or immunodeficiency syndromes. MAS can present with nonspecific symptoms, leading to a delay in diagnosis. This report describes a case of a 64-year-old female with marginal zone lymphoma and systemic lupus erythematosus who presented with a purpuric rash and acute kidney injury. She underwent a kidney biopsy and was diagnosed with MAS. This case highlights the importance of promptly recognizing MAS's symptoms and signs, allowing timely diagnosis and early therapeutic intervention. This potentially fatal condition tends to respond well to rapid treatment initiation with corticosteroids and to address the underlying condition.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241244732"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10998482/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140851407","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 Plasmacytoma of the Lateral Pharyngeal Wall: A Diagnostic Enigma. 咽侧壁浆细胞瘤：诊断之谜

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241242237

Lefika Bathobakae, Shayee Hasan, Aneeqa Shahid, Tyler Wilkinson, Shajla Ajas, Mehandar Kumar, Sohail Qayyum, Amer Akmal

{"title":"A Plasmacytoma of the Lateral Pharyngeal Wall: A Diagnostic Enigma.","authors":"Lefika Bathobakae, Shayee Hasan, Aneeqa Shahid, Tyler Wilkinson, Shajla Ajas, Mehandar Kumar, Sohail Qayyum, Amer Akmal","doi":"10.1177/23247096241242237","DOIUrl":"10.1177/23247096241242237","url":null,"abstract":"Plasmacytoma is a rare plasma cell dyscrasia that grows in bones or soft tissues such as the pharynx. Soft tissue plasmacytomas are rare, and a higher burden has been reported in the upper aero-digestive tract, often manifesting as hoarseness, dysphagia, or odynophagia. Due to their rarity, extramedullary plasmacytomas (EMPs) have unknown prognostic factors, and guidelines for optimal management are still lacking. However, radiation therapy and surgery have been used with positive outcomes. Herein, we describe a unique case of plasmacytoma of the pharyngeal tissue in a male patient with a history of HIV disease. The patient completed 28 sessions of radiation therapy, resulting in an improvement in his throat pain and hoarseness. Given the patient's age and lack of traditional risk factors for head and neck cancers, his hoarseness and odynophagia proved to be a diagnostic conundrum. Although infrequent, soft tissue plasmacytomas should be considered in the differential diagnosis of head and neck tumors.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241242237"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10996350/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140861540","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

Non-recurrent Laryngeal Nerve During Intraoperative Neuromonitoring Thyroidectomy: A Case Report and Literature Review. 术中神经监测甲状腺切除术中的非复发性喉神经：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: 10.1177/23247096241273099

Davide Inversini, Simone Gianazza, Matteo Annoni, Andrea Leotta, Dorotea Confalonieri, Enrico Ferri, Andrea Palillo, Andrea Vigezzi, Sabrina Garbarino, Giuseppe Ietto, Giulio Carcano

{"title":"Non-recurrent Laryngeal Nerve During Intraoperative Neuromonitoring Thyroidectomy: A Case Report and Literature Review.","authors":"Davide Inversini, Simone Gianazza, Matteo Annoni, Andrea Leotta, Dorotea Confalonieri, Enrico Ferri, Andrea Palillo, Andrea Vigezzi, Sabrina Garbarino, Giuseppe Ietto, Giulio Carcano","doi":"10.1177/23247096241273099","DOIUrl":"10.1177/23247096241273099","url":null,"abstract":"Complete and precise knowledge of the neck anatomy and its eventual anomalies is crucial while performing a safe thyroid and parathyroid surgery. Embryo-genetic malformations of the IV branchial arch can lead to an uncommon anatomical alteration known as non-recurrent inferior laryngeal nerve. Its prevalence varies between 0.7% for the dextral branch and 0.04% for the sinistral. In these cases, the inferior laryngeal nerve branches originate directly from the cervical vagus nerve, entering the larynx without hooking, on the right side around the subclavian artery or on the left around the aortic arch. The presence of a non-recurrent laryngeal nerve is challenging, due to the increased risks of iatrogenic damage to the nerve, which results in hoarseness, dysphagia, glottal obstruction, vocal cords palsy, and serious airway impairment. We present the case of a 58-year-old woman. The patient was admitted to our department for a nodule classified as Bethesda IV in the right thyroid lobe. Through the use of intraoperative neuromonitoring (IONM), surgeons detected intraoperatively a non-recurrent laryngeal nerve. A subsequent computed tomography scan confirmed an anomalous right subclavian artery branching from the left aortic arch, the Lusoria Artery. Anatomical variants represent pitfalls in this case and an accurate knowledge of the neck region is imperative while performing thyroid surgery. Devices such as IONM are useful for detecting abnormalities that may lead to iatrogenic damages.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241273099"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11366100/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142108197","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

Paclitaxel-Induced Hepatotoxicity in Ovarian Cancer Patients: A Case Report. 卵巢癌患者紫杉醇诱发的肝毒性：病例报告。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241281603

Haoran Yang, Lina Shen, Yunzhi Yang, Xiaoyu Li

{"title":"Paclitaxel-Induced Hepatotoxicity in Ovarian Cancer Patients: A Case Report.","authors":"Haoran Yang, Lina Shen, Yunzhi Yang, Xiaoyu Li","doi":"10.1177/23247096241281603","DOIUrl":"10.1177/23247096241281603","url":null,"abstract":"Paclitaxel plus carboplatin is the most common regimen for the treatment of ovarian cancer. While generally effective, these chemotherapy agents can cause adverse events such as myelotoxicity, nausea, vomiting, and rarely, hepatotoxicity. Paclitaxel is associated with mild elevations in serum aminotransferase levels, but significant hepatotoxicity is uncommon, particularly in patients without prior liver disease. We present a patient with ovarian cancer who developed significant elevation of serum aminotransferases up to 12 times the upper limit of normal after the first cycle of paclitaxel plus carboplatin chemotherapy. Extensive evaluations excluded other potential causes of liver injury and the diagnosis of paclitaxel-induced liver injury was confirmed. The patient was treated with liver protective medications and a reduced dose of paclitaxel (135 mg/m2) for subsequent cycles. Her liver function tests stabilized within 2 to 3 times the upper limit of normal, allowing continuation of chemotherapy and achieving a favorable outcome.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241281603"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289260","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

Promising Response of Olaparib in Patient With Germline ATM-Mutated Metastatic Gastric Cancer. 奥拉帕利对基因ATM突变转移性胃癌患者的良好反应

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241240176

Kok Hoe Chan, Darius Rutazanaa, Curtis Wray, Nirav Thosani, Victor Yang, Putao Cen

{"title":"Promising Response of Olaparib in Patient With Germline ATM-Mutated Metastatic Gastric Cancer.","authors":"Kok Hoe Chan, Darius Rutazanaa, Curtis Wray, Nirav Thosani, Victor Yang, Putao Cen","doi":"10.1177/23247096241240176","DOIUrl":"10.1177/23247096241240176","url":null,"abstract":"Gastric cancer ranks as the fifth leading cause of global cancer incidences, exhibiting varied prevalence influenced by geographical, ethnic, and lifestyle factors, as well as Helicobacter pylori infection. The ATM gene on chromosome 11q22 is vital for genomic stability as an initiator of the DNA damage response, and mutations in this gene have been associated with various cancers. Poly ADP-ribose polymerase (PARP) inhibitors, such as olaparib, have shown efficacy in cancers with homologous recombination repair deficiencies, notably in those with ATM mutations. Here, we present a case of a 66-year-old patient with germline ATM-mutated metastatic gastric cancer with very high CA 19-9 (48 000 units/mL) who demonstrated an exceptional response to the addition of olaparib to chemo-immunotherapy and subsequent olaparib maintenance monotherapy for 12 months. CA 19-9 was maintained at low level for 18 months. Despite the failure of a phase II clinical trial on olaparib in gastric cancer (NCT01063517) to meet its primary endpoint, intriguing findings emerged in the subset of ATM-mutated patients, who exhibited notable improvements in overall survival. Our case underscores the potential clinical utility of olaparib in germline ATM-mutated gastric cancer and emphasizes the need for further exploration through larger clinical trials. Ongoing research and clinical trials are essential for optimizing the use of PARP inhibitors, identifying biomarkers, and advancing personalized treatment strategies for gastric cancer.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241240176"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10953106/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140174980","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

Fulminant Meningitis: A Rare Case of HSV-2 and Cryptococcal Co-Infection in a Patient With AIDS. 恶性脑膜炎：艾滋病患者合并感染 HSV-2 和隐球菌的罕见病例。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241286380

Lefika Bathobakae, Malina Mohtadi, Chanhee Kim, Trevor Ruff, Rammy Bashir, Utku Ekin, Simi Philip, Shivanck Upadhyay

{"title":"Fulminant Meningitis: A Rare Case of HSV-2 and Cryptococcal Co-Infection in a Patient With AIDS.","authors":"Lefika Bathobakae, Malina Mohtadi, Chanhee Kim, Trevor Ruff, Rammy Bashir, Utku Ekin, Simi Philip, Shivanck Upadhyay","doi":"10.1177/23247096241286380","DOIUrl":"10.1177/23247096241286380","url":null,"abstract":"Cryptococcal meningitis (CM) is a severe and often fatal infection of the central nervous system that is caused by Cryptococcus spp. Cryptococcal meningitis mainly affects immunocompromised individuals such as those with AIDS, organ transplantation recipients, and those with conditions requiring prolonged immunosuppressive therapy. Infection typically begins with the inhalation of cryptococcal spores, often from bird droppings, which can remain dormant in the lungs and lymph nodes before disseminating to the central nervous system. Signs and symptoms include headache, nausea, and cognitive impairment, which can progress to severe neurological complications if not promptly treated. Even in the era of antifungal and antiretroviral therapies, CM remains a public health challenge with substantial morbidity and mortality. Although rare, sporadic cases of cryptococcal neoformans/gattii coinfection with Mycobacterium tuberculosis, Streptococcus pneumoniae, and Treponema pallidum have been reported in the literature. Herein, we describe an extremely rare case of fulminant meningitis due to herpes simplex virus (HSV)-2 and Cryptococcal neoformans coinfection. Our patient also had cryptococcemia, which is known to increase acute mortality rates in patients with CM.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241286380"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11459586/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142372061","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 Cardiac Tamponade With Biventricular Heart Failure in the Setting of Systemic Lupus Erythematosus. 一例系统性红斑狼疮合并双心室心力衰竭的心脏填塞病例

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241286379

Sacide S Ozgur, Nida Ansari, Yezin Shamoon, Sherif Elkattway, Rachel Abboud, Fayez Shamoon

{"title":"A Case of Cardiac Tamponade With Biventricular Heart Failure in the Setting of Systemic Lupus Erythematosus.","authors":"Sacide S Ozgur, Nida Ansari, Yezin Shamoon, Sherif Elkattway, Rachel Abboud, Fayez Shamoon","doi":"10.1177/23247096241286379","DOIUrl":"https://doi.org/10.1177/23247096241286379","url":null,"abstract":"Systemic lupus erythematosus (SLE) is an autoimmune disease targeting multiple organs through immune complexes. Pericarditis and pericardial effusions are often encountered; however, cases of biventricular failure are notably less common in the setting of SLE. We report a 43-year-old male patient presenting with cardiac tamponade with biventricular failure in SLE. Our patient with known SLE, not on medication, presented with exertional dyspnea. He had decreased heart sounds, jugular venous distention, and right-sided inspiratory crackles on physical examination. On further investigation, he was found to have a reduced ejection fraction (EF) of 10% to 15% and moderate pericardial effusion. He was treated with immunosuppressive therapy and goal directed medical theraphy (GDMT), with improvement in his EF to 58% 3 months later. This case demonstrates the importance of early recognition of SLE-induced tamponade and the vitality of prompt medical therapy to reduce any further cardiac deterioration.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241286379"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11459665/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391103","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