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American Journal of Case Reports最新文献

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Guillain-Barré Syndrome and Encephalitis Following a Cytomegalovirus Infection in an Immunocompetent Adult: A Case Report 免疫功能健全的成人感染巨细胞病毒后出现格林-巴利综合征和脑炎：病例报告
American Journal of Case Reports Pub Date : 2024-06-12 DOI: 10.12659/ajcr.944337
David Richer Araujo Coelho, Isabel Cristina Melo Mendes, Roxana Flores Mamani, Rogerio Oliveira da Luz, Ana Luiza Martins de Oliveira, Clarisse Pimentel
{"title":"Guillain-Barré Syndrome and Encephalitis Following a Cytomegalovirus Infection in an Immunocompetent Adult: A Case Report","authors":"David Richer Araujo Coelho, Isabel Cristina Melo Mendes, Roxana Flores Mamani, Rogerio Oliveira da Luz, Ana Luiza Martins de Oliveira, Clarisse Pimentel","doi":"10.12659/ajcr.944337","DOIUrl":"https://doi.org/10.12659/ajcr.944337","url":null,"abstract":"","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":"25 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141354651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A 42-Year-Old Woman with Recurrent Pancreatitis Associated with Gallstones and Phrygian Cap Gallbladder 一名 42 岁女性的复发性胰腺炎伴有胆结石和峡部岬状胆囊
American Journal of Case Reports Pub Date : 2024-06-12 DOI: 10.12659/ajcr.943435
Fabio Pio Curci, Pasquale Cianci, Marco Montagna, Miriam Cappiello, Laura Cafagna, E. Restini
{"title":"A 42-Year-Old Woman with Recurrent Pancreatitis Associated with Gallstones and Phrygian Cap Gallbladder","authors":"Fabio Pio Curci, Pasquale Cianci, Marco Montagna, Miriam Cappiello, Laura Cafagna, E. Restini","doi":"10.12659/ajcr.943435","DOIUrl":"https://doi.org/10.12659/ajcr.943435","url":null,"abstract":"","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":"66 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141350565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis AGO3 和 KHSRP 中的新型新义变异：通过全基因组分析洞察全球发育迟缓和自闭症谱系障碍
American Journal of Case Reports Pub Date : 2024-06-07 DOI: 10.12659/ajcr.943641
Mario Ćuk, Luka Lovrenčić, Busra Unal, McKenzie Walker, Connor P Hayes, Goran Krakar, Robert Belužić, Ivona Sansović, Goran Pavliša, A. Ghazani
{"title":"Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis","authors":"Mario Ćuk, Luka Lovrenčić, Busra Unal, McKenzie Walker, Connor P Hayes, Goran Krakar, Robert Belužić, Ivona Sansović, Goran Pavliša, A. Ghazani","doi":"10.12659/ajcr.943641","DOIUrl":"https://doi.org/10.12659/ajcr.943641","url":null,"abstract":"and bilateral optic nerve hypoplasia, Chiari malformation type I with normal myelinization. A comprehensive joint whole-genome analysis (WGS) of the proband and her unaffected parents was performed. The trio-WGS analysis identified novel de novo nonsense variants AGO3 : c.1324C>T (p.Gln442*) and KHSRP : c.1573C>T (p.Gln525*). These variants have not been reported in gnomAD and published literature. AGO3 and KHSRP are not currently associated with a known phenotype in the Online Mendelian Inheritance in Man (OMIM); however, they may be involved in neuronal development. Conclusions: This report highlights the utility of joint WGS analysis in identifying novel de novo genomic alterations in a patient with the spectrum of phenotypes of GDD and neurodevelopmental disorders. The role of these variants and genes in GDD requires further studies.","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":" 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141373863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Severe Fatal ARDS Due to Untreated Human Granulocytic Anaplasmosis in a 67-Year-Old Man: A Case Report 一名 67 岁男子因人类粒细胞无形体病未获治疗而导致严重致命的 ARDS：病例报告
American Journal of Case Reports Pub Date : 2024-06-07 DOI: 10.12659/ajcr.943966
Shehryar Malik, Martha F. Brucato, Laura Faiver, Tung Phan, Mohamed H. Yassin, Jonathan M. Bishop, S. Kapoor
{"title":"Severe Fatal ARDS Due to Untreated Human Granulocytic Anaplasmosis in a 67-Year-Old Man: A Case Report","authors":"Shehryar Malik, Martha F. Brucato, Laura Faiver, Tung Phan, Mohamed H. Yassin, Jonathan M. Bishop, S. Kapoor","doi":"10.12659/ajcr.943966","DOIUrl":"https://doi.org/10.12659/ajcr.943966","url":null,"abstract":"","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":" 22","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141373052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Uncommon Presentation of Post-Transfusion Purpura in an Elderly Male: A Case Report and Unique Alloantibody Identification 一名老年男性输血后紫癜的罕见表现：病例报告和独特的同种抗体鉴定
American Journal of Case Reports Pub Date : 2024-06-06 DOI: 10.12659/ajcr.942949
Laura Owczarzak, T. Alrifai, Shivi Jain, Irene dehghan-Paz
{"title":"Uncommon Presentation of Post-Transfusion Purpura in an Elderly Male: A Case Report and Unique Alloantibody Identification","authors":"Laura Owczarzak, T. Alrifai, Shivi Jain, Irene dehghan-Paz","doi":"10.12659/ajcr.942949","DOIUrl":"https://doi.org/10.12659/ajcr.942949","url":null,"abstract":"","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":"177 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141376005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Surgical Intervention for Giant Pulmonary Artery Aneurysm in Behcet Disease: A Case Report 手术干预白塞氏病巨大肺动脉瘤：病例报告
American Journal of Case Reports Pub Date : 2024-06-05 DOI: 10.12659/ajcr.942869
E. Mottola, M. Bassi, Camilla Poggi, Tiziano De Giacomo
{"title":"Surgical Intervention for Giant Pulmonary Artery Aneurysm in Behcet Disease: A Case Report","authors":"E. Mottola, M. Bassi, Camilla Poggi, Tiziano De Giacomo","doi":"10.12659/ajcr.942869","DOIUrl":"https://doi.org/10.12659/ajcr.942869","url":null,"abstract":"was performed after the introduction of a suction cannula in the aneurysm, which facilitated its emptying and the subsequent maneuvers. Conclusions: PAA is a rare disease, generally treated with medical therapy or interventional procedures. However, giant and fast-growing aneurysms are more likely to entail complications and often required immediate treatment. In this case, primary surgical intervention with a pulmonary bilobectomy appeared mandatory to avoid life-threatening events.","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":"55 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141383927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Optic Neuritis Leading to Vision Loss: A Case of MOG-Associated Disease with Successful Immunotherapy 导致视力丧失的视神经炎：一例成功接受免疫疗法的 MOG 相关疾病病例
American Journal of Case Reports Pub Date : 2024-06-05 DOI: 10.12659/ajcr.943112
Mengsha Wang, Tao Huang, Jia-xun Li, Yang Yao, Ying Chen, Kai-kai Fu, Wen-rong Miao, Yi Han
{"title":"Optic Neuritis Leading to Vision Loss: A Case of MOG-Associated Disease with Successful Immunotherapy","authors":"Mengsha Wang, Tao Huang, Jia-xun Li, Yang Yao, Ying Chen, Kai-kai Fu, Wen-rong Miao, Yi Han","doi":"10.12659/ajcr.943112","DOIUrl":"https://doi.org/10.12659/ajcr.943112","url":null,"abstract":"tor-tuosity, and swelling, especially on the right side. Orbital MRI T2 sequence showed the typical “double track sign” change. The titers of MOG-IgG in CSF and serum were 1: 1 (+) and 1: 32 (+) separately, so MOGAD was diagnosed. The primary treatment was intravenous methylprednisolone for 2 weeks, after which the blurred vision improved and MRI showed the optic nerve lesions disappeared. She was discharged and oral corticosteroids were tapered gradually, and 1 month later, the symptom had vanished without recurrence, cranial MRI was normal, and MOG-IgG in CSF and serum were negative. Low-dose oral corticosteroids were continued for 6 months, with no relapse and normal cranial MRI, so we stopped corticosteroid therapy. At 1-year follow-up, the symptoms had not recurred. Conclusions: A 42-year-old woman presented with loss of vision due to optic neuritis and positive antibody testing for MOG. MOGAD was diagnosed, and timely immunotherapy was effective.","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":"64 S2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141385500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Destructive Cryptococcal Osteomyelitis Mimicking Tuberculous Spondylitis 模仿结核性脊柱炎的破坏性隐球菌骨髓炎
American Journal of Case Reports Pub Date : 2024-06-05 DOI: 10.12659/ajcr.944291
Yifan Zhou, Xiaoli Huang, Yufei Liu, Yuan-hong Zhou, Xiaolin Zhou, Qiang Liu
{"title":"Destructive Cryptococcal Osteomyelitis Mimicking Tuberculous Spondylitis","authors":"Yifan Zhou, Xiaoli Huang, Yufei Liu, Yuan-hong Zhou, Xiaolin Zhou, Qiang Liu","doi":"10.12659/ajcr.944291","DOIUrl":"https://doi.org/10.12659/ajcr.944291","url":null,"abstract":"improved. Upon discharge, the patient was prescribed oral fluconazole. Follow-up examinations showed a stable condition and a negative serum cryptococcal capsular polysaccharide antigen test. Conclusions: Given the rarity and lack of specificity of clinical features of cryptococcal spondylitis, clinicians encountering similar presentations should consider tuberculous spondylitis and spinal tumors as differential diagnoses. Additionally, tissue biopsy of the affected vertebral bodies should be performed early to establish the type of vertebral infection, aiding in diagnosis, treatment, and prognosis.","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":"31 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141382421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cutaneous Metastasis in Breast Cancer: A Case Report 乳腺癌的皮肤转移：病例报告
American Journal of Case Reports Pub Date : 2024-06-05 DOI: 10.12659/ajcr.943999
Ghader Jamjoum, Fatima S. Arab, Rama Tayeb, Ali Samkari, Adel Ali Johari, Laila Ashkar, Jumana Akbar
{"title":"Cutaneous Metastasis in Breast Cancer: A Case Report","authors":"Ghader Jamjoum, Fatima S. Arab, Rama Tayeb, Ali Samkari, Adel Ali Johari, Laila Ashkar, Jumana Akbar","doi":"10.12659/ajcr.943999","DOIUrl":"https://doi.org/10.12659/ajcr.943999","url":null,"abstract":"","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":"332 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141386547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Challenging Diagnosis of Late Abdominal Pregnancy: A Case Study of Misdiagnosis and Fetal Death in the Third Trimester 腹腔妊娠晚期的诊断难题：妊娠三个月时的误诊和胎儿死亡病例研究
American Journal of Case Reports Pub Date : 2024-06-05 DOI: 10.12659/ajcr.943625
Z. Alwafai, Claudia Kolbe, Judith Kruse-Wieczorek, Mohammad Nour Khanji, Marek Zygmunt
{"title":"Challenging Diagnosis of Late Abdominal Pregnancy: A Case Study of Misdiagnosis and Fetal Death in the Third Trimester","authors":"Z. Alwafai, Claudia Kolbe, Judith Kruse-Wieczorek, Mohammad Nour Khanji, Marek Zygmunt","doi":"10.12659/ajcr.943625","DOIUrl":"https://doi.org/10.12659/ajcr.943625","url":null,"abstract":"","PeriodicalId":504238,"journal":{"name":"American Journal of Case Reports","volume":"13 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141383755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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