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

Survival Against the Odds-Hemophagocytic Lymphohistiocytosis Amidst the Shadows of Disseminated Histoplasmosis: A Case Report and Literature Review. 逆境求生--在播散性组织胞浆菌病阴影下的嗜血细胞淋巴组织细胞增多症：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: 10.1177/23247096241258074

Zakaria Alagha, Ean Bills, Mohammed Al-Hiari, Abdul Muhsen Abdeen, Fuad Zeid

{"title":"Survival Against the Odds-Hemophagocytic Lymphohistiocytosis Amidst the Shadows of Disseminated Histoplasmosis: A Case Report and Literature Review.","authors":"Zakaria Alagha, Ean Bills, Mohammed Al-Hiari, Abdul Muhsen Abdeen, Fuad Zeid","doi":"10.1177/23247096241258074","DOIUrl":"10.1177/23247096241258074","url":null,"abstract":"Hemophagocytic lymphohistiocytosis (HLH) secondary to Histoplasma capsulatum is rare, impacting <1% globally, with a mortality rate of up to 31%. Herein, we present a rare case of HLH secondary to H capsulatum, affecting a 57-year-old female with rheumatoid arthritis. Extensive investigations were unrevealing and despite broad-spectrum antibiotics, her condition worsened, leading to respiratory failure requiring extracorporeal membrane oxygenation (ECMO) support, shock requiring multiple vasopressors, and acute kidney injury (AKI) requiring hemodialysis. Diagnosis confirmed disseminated histoplasmosis (DHP), prompting Amphotericin B and methylprednisolone treatment, resulting in significant improvement and discharge with posaconazole therapy. Secondary HLH, primarily arising from severe infections like DHP, is discussed. Limited research exists on this condition in human immunodeficiency virus (HIV)-seronegative individuals. Diagnosis involves HLH-2004 and HScore criteria. Managing histoplasmosis-associated HLH remains challenging due to multiorgan failure risks and treatment complexities and needs further research.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11141221/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141175654","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":null,"pages":null},"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

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

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":null,"pages":null},"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

Hepatic Encephalopathy Secondary to Non-cirrhotic Portosystemic Shunt. 肝性脑病继发于非肝硬化门静脉分流术。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241258063

Bhavi Trivedi, Amish Parikh, Monica Botros, Alejandro Robles, Shaked Laks, Marc Zuckerman

引用次数: 0

Diffuse Large B-Cell Lymphoma With Cardiac Invasion Presented as Acute Myocardial Infarction and Left Ventricular Hypertrophy: A Case Report. 弥漫大 B 细胞淋巴瘤侵犯心脏，表现为急性心肌梗死和左心室肥大：病例报告。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241253334

Zhengjiang Liu, Xingshou Pan, Jianjiao Mo, Tongyuan Deng, Tuan Cen, Baomin Wei, Chengcai Chen

{"title":"Diffuse Large B-Cell Lymphoma With Cardiac Invasion Presented as Acute Myocardial Infarction and Left Ventricular Hypertrophy: A Case Report.","authors":"Zhengjiang Liu, Xingshou Pan, Jianjiao Mo, Tongyuan Deng, Tuan Cen, Baomin Wei, Chengcai Chen","doi":"10.1177/23247096241253334","DOIUrl":"10.1177/23247096241253334","url":null,"abstract":"Primary cardiac lymphoma is an exceedingly rare malignant tumor, with diffuse large B-cell lymphoma (DLBCL) being the most prevalent histological subtype. This disease has non-specific clinical manifestations, making early diagnosis crucial. However, DLBCL diagnosis is commonly delayed, and its prognosis is typically poor. Herein, we report the case of a 51-year-old male patient with DLBCL who presented with recurrent chest tightness for 4 months as the primary clinical symptom. The patient was admitted to the hospital and diagnosed with acute myocardial infarction and left ventricular hypertrophy with heart failure. Echocardiography revealed a progression from left ventricular thickening to local pericardial thickening and adhesion in the inferior and lateral walls of the left ventricle. Finally, pathological analysis of myocardial biopsy confirmed the diagnosis of DLBCL. After treatment with the R-CHOP chemotherapy regimen, the patient's chest tightness improved, and he was discharged. After 2 months, the patient succumbed to death owing to sudden ventricular tachycardia, ventricular fibrillation, and decreased blood pressure despite rescue efforts. Transthoracic echocardiography is inevitable for the early diagnosis of DLBCL, as it can narrow the differential and guide further investigations and interventions, thereby improving the survival of these patients.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11097718/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140922460","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

Can Nondisplacement Osteoporotic Pubic Rami Fracture Be Life-Threatening Injuries? A Case Report, Overview, and Algorithm Protocol for Management. 非置换性骨质疏松性耻骨骨嵴骨折会是危及生命的损伤吗？病例报告、概述和处理算法规程。

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241231648

Grigorios Kastanis, Anna Pantouvaki, Mikela-Rafaella Siligardou, Constantinos Chaniotakis, Emmanouil Kroustalakis, Ioannis Stavrakakis, Petros Kapsetakis

{"title":"Can Nondisplacement Osteoporotic Pubic Rami Fracture Be Life-Threatening Injuries? A Case Report, Overview, and Algorithm Protocol for Management.","authors":"Grigorios Kastanis, Anna Pantouvaki, Mikela-Rafaella Siligardou, Constantinos Chaniotakis, Emmanouil Kroustalakis, Ioannis Stavrakakis, Petros Kapsetakis","doi":"10.1177/23247096241231648","DOIUrl":"10.1177/23247096241231648","url":null,"abstract":"Pubic rami fractures in the geriatric population are usually osteoporotic fractures resulting from low energy trauma and are characterized as stable injuries. Established treatment of these injuries is conservative, including rest, analgesic medication, and progressive active mobilization. These injuries are life-threatened when pubic rami fractures are accompanied by acute bleeding, either from an injury to a vessel (corona mortis) or from medication (anticoagulant or antiplatelet) for comorbidities, then. In this case study, we present the unusual case of an 82-year-old woman admitted to the emergency department 24 hours after a simple fall, causing nondisplacement osteoporotic pubic rami fracture, who, after 48 hours, developed a hematoma on the contralateral side of the pelvis, with progressive anemia and acute abdominal pain. This study has 2 objectives: to increase awareness of this life-threatening injury in the emergency department and to describe diagnosis and treatment modalities.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10943755/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140140372","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

Esophageal Perforation Presenting Initially as Multiple Brain Abscesses Secondary to Streptococcus intermedius. 食管穿孔最初表现为继发于中间链球菌的多发性脑脓肿。

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241239572

Muhammed Yaman Swied, Mulham Alom, Obada Daaboul, Muaataz Azzawi, Abdul Swied

引用次数: 0

The Harms of Unnecessary CT Pulmonary Angiography: A Case Report and Literature Review. 不必要的 CT 肺血管造影的危害：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: 10.1177/23247096241258603

Zakaria Alagha, Ean Bills, Maha Alastal, Muhammad Ghallab, Amro Al-Astal, Ahmed Mahdi

引用次数: 0

Pulmonary Contusion-An Unusual Clinical and Radiological Presentation: Case Report. 肺挫伤--一种不寻常的临床和放射学表现：病例报告。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241266089

Ana Isabel Castrillón, Luz F Sua, Alvaro Sanchez, Liliana Fernández-Trujillo

{"title":"Pulmonary Contusion-An Unusual Clinical and Radiological Presentation: Case Report.","authors":"Ana Isabel Castrillón, Luz F Sua, Alvaro Sanchez, Liliana Fernández-Trujillo","doi":"10.1177/23247096241266089","DOIUrl":"10.1177/23247096241266089","url":null,"abstract":"Pulmonary contusion (PC), defined as damage to the lung parenchyma with edema and hemorrhage, has classically been associated with acceleration-deceleration injuries. It is a frequent pathology in clinical practice. However, its clinical presentation and imaging findings are nonspecific. Patients with this entity can present with findings that can range from mild dyspnea to life-threatening respiratory failure and hemodynamic instability. We present the case of a 61-year-old man, a former smoker, who presented to the emergency department after suffering blunt chest trauma. On admission, he complained of only mild shortness of breath, and his vital signs were typical. Initial imaging identified asymmetric pulmonary infiltrates and mediastinal lymphadenopathy; this was suspicious for additional pathology in addition to PC. After an exhaustive evaluation, a neoplastic or infectious disease process was ruled out. Even though the patient presented with a clinical deterioration of respiratory function compatible with secondary acute respiratory distress syndrome, there was a complete recovery after supportive measures and supplemental oxygen. In conclusion, the nonspecific clinical and imaging findings in patients with pulmonary contusion warrant a complete evaluation of these cases. An early diagnosis is essential to establish adequate support and monitoring to prevent possible complications that could worsen the patient's prognosis.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11273703/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141759207","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