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

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

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":"12 ","pages":"23247096241258074"},"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

Underappreciated Relationship: A Case of Type A Aortic Dissection Presented With Atrial Flutter.

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241308578

Nasr Al Rayess, Sacide S Ozgur, Ronald Challita, Abdullah Ahmad, Hamdallah Ashkar, Sherif Elkattawy, Yezin Shamoon, Tamer Akel, Fayez Shamoon

{"title":"Underappreciated Relationship: A Case of Type A Aortic Dissection Presented With Atrial Flutter.","authors":"Nasr Al Rayess, Sacide S Ozgur, Ronald Challita, Abdullah Ahmad, Hamdallah Ashkar, Sherif Elkattawy, Yezin Shamoon, Tamer Akel, Fayez Shamoon","doi":"10.1177/23247096241308578","DOIUrl":"10.1177/23247096241308578","url":null,"abstract":"Aortic dissection (AD) is a life-threatening emergency involving a tear in the aortic intima, leading to a false lumen. Atrial fibrillation (AF) can complicate AD, increasing management challenges and mortality risks. We report a 67-year-old male with no known past medical history who presented with a 1-day history of abdominal pain. Initial examination showed mild hypertension, elevated bilirubin level, and leukocytosis. Imaging studies indicated gallbladder distension with cholelithiasis. Discharged with outpatient follow-up for elective cholecystectomy, the patient returned 2 days later for preoperative clearance, was hypertensive and tachycardic, presented with atrial flutter, and was referred to the emergency department. A 2D echo showed left ventricular ejection fraction (LVEF) 35% to 40% and pericardial effusion. Transesophageal echocardiography (TEE) revealed LVEF 50% to 55% and no thrombus, converting to sinus rhythm postcardioversion. The TEE also suggested type A AD, confirmed by computed tomography (CT) angiography, showing dissection from the aortic valve to the left external iliac artery with pericardial effusion. Emergent surgical repair was performed, and the patient was stabilized and discharged with follow-up. This case illustrates the complexity of diagnosing and managing AD, especially with concurrent AF. Recognizing the association between AD and AF is essential as AF increases in-hospital mortality in AD patients.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241308578"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11650580/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142837295","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

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":"12 ","pages":"23247096241253334"},"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

Metastasis of Rectal Signet Ring Cell Carcinoma to Typical Lipoma: A Rare Presentation of the Tumor-to-Tumor Metastasis Phenomenon. 直肠印戒细胞癌转移至典型脂肪瘤：肿瘤间转移现象的罕见表现。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241261309

Houyem Mansouri, Ines Zemni, Nedia Boujelbene, Fatma Saadallah, Mohamed Ali Ayadi, Leila Achouri

{"title":"Metastasis of Rectal Signet Ring Cell Carcinoma to Typical Lipoma: A Rare Presentation of the Tumor-to-Tumor Metastasis Phenomenon.","authors":"Houyem Mansouri, Ines Zemni, Nedia Boujelbene, Fatma Saadallah, Mohamed Ali Ayadi, Leila Achouri","doi":"10.1177/23247096241261309","DOIUrl":"10.1177/23247096241261309","url":null,"abstract":"Rectal signet ring cell carcinoma represents a rare subtype of colorectal adenocarcinoma known for its aggressive biological nature and poor prognosis. Although the co-occurrence of colorectal carcinoma with other tumors has been reported, the uncommon phenomenon of tumor-to-tumor metastasis, first described in 1930, remains rare. The most frequent donor neoplasms are lung or breast carcinomas, whereas cerebral meningiomas have been reported to be the most frequent recipient neoplasms. Here we report a case of a typical lipomatous tumor harboring metastatic signet ring cell rectal carcinoma. It is about a 42-year-old man diagnosed with rectal signet ring cell carcinoma and treated with concurrent radiotherapy and chemotherapy followed by an anterior resection and manual coloanal anastomosis with a temporary ileostomy. During the surgery, an abdominal wall lipoma was discovered and excised. A histopathological examination revealed infiltration of the fibro adipose tissue by a mucinous adenocarcinoma with a contingent of signet ring cells. The patient died 12 months after adjuvant chemotherapy due to peritoneal progression. To the best of our understanding, this represents the initial documented instance of tumor-to-tumor metastasis from rectal signet cell carcinoma to a conventional nonvascular lipoma. Consequently, even if one of these tumors appears clinically and radiologically benign, it is prudent to entertain the prospect of tumor-to-tumor metastasis. Thus, a comprehensive pathologic study of both tumors is highly recommended.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241261309"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11184994/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141331094","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

Delayed Presentation of a Post-infarction Ventricular Septal Rupture. 心梗后室间隔破裂的延迟表现

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241262514

Omair Ahmed, Harjinder Singh, Sakshi Bai, Diva Maraj, Muhammad Ahmad Qureshi, Elise Hawes, Chidamber Alamelumangapuram, Hussein Othman

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

An Odd Presentation of Dysphagia Due to Pericardial Effusion. 心包积液导致吞咽困难的奇特表现

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241286364

Harendra Ipalawatte, Ariel Ahl, Jasprit Takher, Arian Gower

{"title":"An Odd Presentation of Dysphagia Due to Pericardial Effusion.","authors":"Harendra Ipalawatte, Ariel Ahl, Jasprit Takher, Arian Gower","doi":"10.1177/23247096241286364","DOIUrl":"https://doi.org/10.1177/23247096241286364","url":null,"abstract":"Esophageal dysphagia is most commonly caused by motility disorders and intrinsic mechanical obstruction. However, extrinsic obstruction, such as pericardial effusion, is rare causes of dysphagia. We present an 89-year-old male with history of Waldenstrom macroglobulinemia, Charcot-Marie-Tooth syndrome, and basal cell carcinoma presenting with generalized weakness, productive cough, shortness of breath, and dysphagia to both solids and liquids. A chest X-ray obtained showed cardiomegaly with suggested central vascular congestion and pulmonary edema. Further imaging with computed tomography (CT) abdomen and pelvis showed a moderate-to-large pericardial effusion. Patient later developed signs and symptoms of cardiac tamponade, requiring urgent pericardiocentesis with removal of 1 L of sanguineous fluid. Up to today, only 6 cases of dysphagia due to pericardial effusion have been described. This case displays another rare case and highlights the importance of recognizing dysphagia as a critical symptom as well as non-gastrointestinal (GI) causes of dysphagia.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241286364"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11483682/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467630","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