SAGE Open Medical Case Reports最新文献_第10页

Focal segmental glomerulosclerosis and neurogenic bladder in a Chinese patient with a novel de novo pathogenic variation in TRIM8 gene: A case report. 一名患有 TRIM8 基因新发致病变异的中国患者的局灶性肾小球硬化症和神经源性膀胱：病例报告

IF 0.6

SAGE Open Medical Case Reports Pub Date : 2024-12-11 eCollection Date: 2024-01-01 DOI: 10.1177/2050313X241305905

Di-Yi Luo, Yan Long, Li-Li Liu, Xiu-Ying Chen, Yan-Nan Guo

{"title":"Focal segmental glomerulosclerosis and neurogenic bladder in a Chinese patient with a novel de novo pathogenic variation in TRIM8 gene: A case report.","authors":"Di-Yi Luo, Yan Long, Li-Li Liu, Xiu-Ying Chen, Yan-Nan Guo","doi":"10.1177/2050313X241305905","DOIUrl":"10.1177/2050313X241305905","url":null,"abstract":"To report a novel variation in the TRIM8 gene in a Chinese patient who developed focal segmental glomerulosclerosis (FSGS) and neurogenic bladder. Retrospective analysis of the clinical manifestations, laboratory results, renal biopsy results, and genetic data of the patient with FSGS complicated with neurogenic bladder. The patient was a 6-year and 8-month-old Chinese Zang ethnic boy with low-set ears, widely-spaced eyes (inner canthal distance exceeds the 95th percentile of normal inner canthal distance), a small jaw, and a short neck. He could not walk and speak complete sentences until age of 2 years. At age of 4 years, the boy was noticed to have daytime urinary incontinence, hesitancy, and urgency. Combined with urodynamic examination and magnetic resonance imaging examination results, the patient was diagnosed with a neurogenic bladder. Proteinuria was also found. The levels of uric acid, serum creatinine, and blood urea nitrogen were increased. Vitamin D deficiency, hypokalemia, hypocalcium, and hypophosphorus were detected. Urinary ultrasound showed shrinkage of both kidneys. After hospital admission, he was diagnosed with FSGS and stage 3b chronic kidney disease (CKD). Eight months after the first diagnosis, the disease progressed to stage 5 CKD. Gene analysis using whole-exome capture and sequencing revealed a de novo heterozygous pathogenic variation in the TRIM8 gene [NM_030912.2.2:c.1484G>A (p.RP495 *)]. This pathogenic TRIM8 variation and the combined clinical manifestations of neurogenic bladder and FSGS have not been previously reported in the literature. We report a rare Chinese case of FSGS and neurogenic bladder associated with a novel de novo heterozygous variation in the TRIM8 gene. The findings expanded the clinical spectrum of TRIM8 pathogenic variations.","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241305905"},"PeriodicalIF":0.6,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11635891/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142819037","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

Anti-tumor necrosis factor-alpha inhibitor-induced linear psoriasis: A case report. 抗肿瘤坏死因子- α抑制剂诱导的线状银屑病1例。

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SAGE Open Medical Case Reports Pub Date : 2024-12-11 eCollection Date: 2024-01-01 DOI: 10.1177/2050313X241304954

Olivia C MacIntyre, Kerri Purdy

引用次数: 0

Lucio's phenomenon in a non-endemic region: A case report. 非流行地区的卢西奥现象：1例报告。

IF 0.6

SAGE Open Medical Case Reports Pub Date : 2024-12-11 eCollection Date: 2024-01-01 DOI: 10.1177/2050313X241304881

Adam C Yu, Airiss R Chan, Eunice Y Chow

引用次数: 0

Uncommon presentation of Haemophilus parainfluenzae bacteremia: A case study on aortic valve endocarditis. 副流感嗜血杆菌菌血症的罕见表现：主动脉瓣心内膜炎一例研究。

IF 0.6

SAGE Open Medical Case Reports Pub Date : 2024-12-11 eCollection Date: 2024-01-01 DOI: 10.1177/2050313X241306239

Nasrin Dhapa, Hannah Rodriguez, Zachary Visinoni, Neeladri Misra, Diwakar Lingam

{"title":"Uncommon presentation of Haemophilus parainfluenzae bacteremia: A case study on aortic valve endocarditis.","authors":"Nasrin Dhapa, Hannah Rodriguez, Zachary Visinoni, Neeladri Misra, Diwakar Lingam","doi":"10.1177/2050313X241306239","DOIUrl":"10.1177/2050313X241306239","url":null,"abstract":"Haemophilus parainfluenzae, a HACEK organism, is one of five species known to less commonly cause infective endocarditis. This article presents a rare and noteworthy case of H. parainfluenzae endocarditis affecting the aortic valve, seemingly unique when Haemophilus species in endocarditis were previously known to more commonly involve the pulmonic or mitral valves. In the setting of H. parainfluenzae bacteremia, a 61-year-old male with no significant past medical history exhibited subtle systemic symptoms with a paucity of clinical signs associated with endocarditis and no evidence of embolic disease. A thorough workup demonstrated a large vegetation involving the aortic valve causing acute aortic insufficiency necessitating subsequent replacement of the aortic valve. In follow-up appointments with providers, the patient demonstrated excellent recovery returning to his baseline activity within 6 months. This case highlights the importance of considering endocarditis in Haemophilus bacteremia, especially in those with an unclear source of infection. Recognition of these rare presentations can assist with timely diagnosis and appropriate management, thus improving patient outcomes.","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241306239"},"PeriodicalIF":0.6,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11632864/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142814166","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

Intravascular lithotripsy prior to transcarotid arterial revascularization: A technical tale of two cases. 经颈动脉血运重建术前血管内碎石术：两例技术案例。

IF 0.6

SAGE Open Medical Case Reports Pub Date : 2024-12-06 eCollection Date: 2024-01-01 DOI: 10.1177/2050313X241297217

Alexander R Evans, Abdurrahman F Kharbat, Joshua L Gierman, Hakeem J Shakir

{"title":"Intravascular lithotripsy prior to transcarotid arterial revascularization: A technical tale of two cases.","authors":"Alexander R Evans, Abdurrahman F Kharbat, Joshua L Gierman, Hakeem J Shakir","doi":"10.1177/2050313X241297217","DOIUrl":"10.1177/2050313X241297217","url":null,"abstract":"calcific carotid stenosis is becoming more common as the advanced-age population grows, requiring new therapeutic approaches. As such, transcarotid arterial revascularization is gaining significant popularity in the management of carotid stenosis due to low rates of perioperative complications and optimal clinical outcomes. In addition, intravascular lithotripsy has shown promise in safely facilitating the success of endovascular procedures in the context of calcified lesions. The combination of neuroprotective technology offered by transcarotid arterial revascularization and circumferential plaque remodeling by intravascular lithotripsy has been utilized for complex lesions. We present two cases of symptomatic calcific carotid stenosis treated with intravascular lithotripsy before transcarotid arterial revascularization. A 4 × 40 mm lithotripsy balloon delivered shockwaves at two and four atmospheres over a 0.014 wire. Transcarotid arterial revascularization was successfully completed without complications, and luminal patency was observed in both patients. Calcific carotid stenosis was effectively treated with intravascular lithotripsy before transcarotid arterial revascularization, resulting in optimal safety and clinical recovery. Thus, when combined with novel shockwave technology, the neuroprotective effect of flow reversal in transcarotid arterial revascularization procedures demonstrates promise in maintaining safety while providing a novel treatment technique for high-risk patients with calcific cervical internal carotid artery stenosis.","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241297217"},"PeriodicalIF":0.6,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11624567/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802154","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

Thoracic combined spinal epidural anaesthesia for exploratory laparoscopy and laparotomy (sigmoidectomy, colostomy): The first case in Palestine for the ASA5 patient. 探查性腹腔镜手术和开腹手术（乙状结肠切除术、结肠造口术）的胸椎硬膜外联合麻醉：巴勒斯坦首例 ASA5 患者。

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SAGE Open Medical Case Reports Pub Date : 2024-12-06 eCollection Date: 2024-01-01 DOI: 10.1177/2050313X241282183

Samah A Maree, Anoud Jadou, Mahmoud R Manasra, Khaled Temezeh, Falah Ibedo

{"title":"Thoracic combined spinal epidural anaesthesia for exploratory laparoscopy and laparotomy (sigmoidectomy, colostomy): The first case in Palestine for the ASA5 patient.","authors":"Samah A Maree, Anoud Jadou, Mahmoud R Manasra, Khaled Temezeh, Falah Ibedo","doi":"10.1177/2050313X241282183","DOIUrl":"10.1177/2050313X241282183","url":null,"abstract":"Thoracic combined spinal epidural anaesthesia offers the ideal perioperative anaesthesia and analgesia. A 78-year-old female presented to our hospital with a hypertensive emergency, non-ST elevation myocardial infarction and pulmonary effusion. Then the patient had abdominal pain, constipation and vomiting. When examined, there was significant abdominal distention. During a colonoscopy, there was a fungating mass lesion 20 cm from the anal verge. A biopsy was taken and showed intramucosal adenoma within tubulovillous adenoma with high-grade dysplasia. The patient underwent exploratory laparoscopy and laparotomy (sigmoidectomy, colostomy) under thoracic combined spinal epidural anaesthesia at T9-T10 interspinous space. The patient was classified as ASA5 according to the American Society of Anesthesiologists physical status. The guidelines recommend utilizing regional anaesthesia instead of general anaesthesia for compromised elderly patients. In our case, we report the first case in Palestine of an ASA5 patient who successfully underwent abdominal surgery under thoracic combined spinal epidural anaesthesia.","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241282183"},"PeriodicalIF":0.6,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11624568/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802160","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

Management of a large basal cell carcinoma masquerading as psoriasis using Mohs and serial excisions. 利用莫氏手术和连续切除术治疗伪装成银屑病的大面积基底细胞癌。

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SAGE Open Medical Case Reports Pub Date : 2024-12-06 eCollection Date: 2024-01-01 DOI: 10.1177/2050313X241304540

Rahul Nanda, Thusanth Thuraisingam

引用次数: 0

Hyperthyroidism and fulminant myocarditis in an adolescent with iodine-induced hyperthyroidism: A case report. 青少年碘性甲状腺机能亢进并发暴发性心肌炎1例。

IF 0.6

SAGE Open Medical Case Reports Pub Date : 2024-12-06 eCollection Date: 2024-01-01 DOI: 10.1177/2050313X241305257

Teng Fang Lai, ZhengJiang Liu

{"title":"Hyperthyroidism and fulminant myocarditis in an adolescent with iodine-induced hyperthyroidism: A case report.","authors":"Teng Fang Lai, ZhengJiang Liu","doi":"10.1177/2050313X241305257","DOIUrl":"10.1177/2050313X241305257","url":null,"abstract":"This paper describes the case of a 15-year-old male patient who exhibited chest distress and pain following an upper respiratory tract infection. Upon admission, the patient exhibited elevated levels of myocardial enzymes and troponin I. Electrocardiography revealed an acute inferior myocardial infarction. Coronary computed tomography angiography ruled out coronary stenosis; however, cardiac magnetic resonance imaging revealed myocardial congestion and edema. Subsequent examinations revealed increased thyroid hormone levels and decreased thyroid-stimulating hormone levels, which is consistent with the manifestations of hyperthyroidism. The patient was diagnosed with acute fulminant myocarditis accompanied by iodine-induced hyperthyroidism. The patient received no pharmacologic treatment for hyperthyroidism but was prescribed a low-iodine diet, medication, and supportive treatment. His myocardial enzymes and troponin I levels gradually decreased, his electrocardiography and echocardiography results improved, and his cardiac function returned to normal. The patient was discharged and advised to maintain a low-iodine diet. At the 6-month follow-up, the patient's thyroid function and cardiac indicators had returned to normal. This case demonstrates that myocardial injury can result from myocarditis and iodine-induced hyperthyroidism and highlights the importance of closely monitoring and assessing thyroid function during treatment.","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241305257"},"PeriodicalIF":0.6,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11624525/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802149","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

Urgent percutaneous coronary intervention in type 2 Wellens' syndrome: A case report of an atypical presentation in an elderly patient. 2 型韦伦斯综合征的紧急经皮冠状动脉介入治疗：老年患者非典型表现的病例报告。

IF 0.6

SAGE Open Medical Case Reports Pub Date : 2024-12-06 eCollection Date: 2024-01-01 DOI: 10.1177/2050313X241271771

Thierno Hamidou Diallo, Raynatou Djafarou Boubacar, Illy Sawssen Azday, Rokya Fellat, Nadia Fellat

{"title":"Urgent percutaneous coronary intervention in type 2 Wellens' syndrome: A case report of an atypical presentation in an elderly patient.","authors":"Thierno Hamidou Diallo, Raynatou Djafarou Boubacar, Illy Sawssen Azday, Rokya Fellat, Nadia Fellat","doi":"10.1177/2050313X241271771","DOIUrl":"10.1177/2050313X241271771","url":null,"abstract":"Traditionally reflecting critical stenosis of the proximal left anterior descending (LAD) artery, Wellens' syndrome (WS) is an electrocardiogram (ECG) pattern of biphasic or deeply inverted T waves in leads V2 and V3. This critical stenosis can progress to an extensive anterior myocardial infarction (MI) if early and appropriate management is not received promptly. The diagnosis of severe stenosis of the LAD coronary artery can be made by using electrocardiographic changes in Wellens' syndrome. Due to the significant area that the LAD vascularizes, patients who exhibit symptoms and test results suggestive of this syndrome should be referred right away for an angiographic exploration in order to confirm the diagnosis and guide treatment. We report a case of a 71-year-old male admitted to our department for acute chest pain. His ECG showed Wellens' syndrome type 2 during both chest pain and pain free with slightly elevated troponin. His TIMI score was 3 and the GRACE score was 136. Critical stenosis of the LAD coronary artery was found in the coronary angiography, which required a drug-eluting stent. The patient was discharged asymptomatic from medical therapy. The diagnosis was established on the basis of the patient's interview, ECG analysis, and coronary angiography.","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241271771"},"PeriodicalIF":0.6,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11622294/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802175","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

Myeloid leukemia cutis in the absence of systemic leukemia: A case report. 无系统性白血病的骨髓性皮肤白血病1例报告。

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SAGE Open Medical Case Reports Pub Date : 2024-12-04 eCollection Date: 2024-01-01 DOI: 10.1177/2050313X241304880

Mohamad R Taha, Stephen K Tyring

引用次数: 0