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Annals of Clinical and Medical Case Reports最新文献

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New Frameshift in Pax6 And Missense Mutation in Eya1 Gene Found by Whole Exome Sequencing Associated with Severe Eye Impairments in an Iranian Family 通过全外显子组测序发现与伊朗家族严重视力障碍相关的Pax6新移码和Eya1基因错义突变
Annals of Clinical and Medical Case Reports Pub Date : 1900-01-01 DOI: 10.47829/acmcr.2023.101906
Faizmahdavi H, Omarmeli V, Lewandrowski KU, Sharafshah A, Assefi M
{"title":"New Frameshift in Pax6 And Missense Mutation in Eya1 Gene Found by Whole Exome Sequencing Associated with Severe Eye Impairments in an Iranian Family","authors":"Faizmahdavi H, Omarmeli V, Lewandrowski KU, Sharafshah A, Assefi M","doi":"10.47829/acmcr.2023.101906","DOIUrl":"https://doi.org/10.47829/acmcr.2023.101906","url":null,"abstract":"Introduction: Previous studies have examined the impacts of PAX6 mutations on a wide range of eye impairments. Because of the PAX6 protein’s binding functions, alterations in its structure may prevent it from correctly connecting with the DNA molecule. 1.2. Materials and Methods: Whole Exome Sequencing [WES] was used to perform in vitro analysis on a 30-year-old woman who sent to a genetic laboratory for PND. Her spouse had clear serious vision problems. To determine the genotypes, both her spouse and her husband’s sister underwent mutation confirmation tests. In silico predictions were also conducted using SWISS-MODEL, ProSA, Molprobity, and SuperPose.","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"249 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124734624","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
Adult T Cell Lymphoma/Leukaemia with Renal Infiltration: A Case Report from Sri Lanka 斯里兰卡成人T细胞淋巴瘤/白血病伴肾浸润1例
Annals of Clinical and Medical Case Reports Pub Date : 1900-01-01 DOI: 10.47829/acmcr.2021.7803
Somawardana Uabp, Gunasinghe R, S. S, Pieris Dc
{"title":"Adult T Cell Lymphoma/Leukaemia with Renal Infiltration: A Case Report from Sri Lanka","authors":"Somawardana Uabp, Gunasinghe R, S. S, Pieris Dc","doi":"10.47829/acmcr.2021.7803","DOIUrl":"https://doi.org/10.47829/acmcr.2021.7803","url":null,"abstract":"Adult T Cell Leukaemia/Lymphoma (ATLL) is a rare T cell lymphoproliferative disease associated with Human T Cell Lym-photropic Virus-1 (HTLV1) endemic in some parts of the world and therefore has a distinct demographic distribution. There are no cases of ATLL reported in Sri Lanka thus far hence this is the first reported case. Renal parenchymal infiltration in ATLL is ex - tremely rare. Due to the rarity of the disease, evidence-based standard therapeutic options are lacking. The outcome of patients with ATLL is poor, particularly in the relapsed and refractory settings. Here we report a case of ATLL with renal involvement that initially responded to combined chemotherapy but later regressed to refractory disease with poor response to combined immunotherapy and antiviral therapy.","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"86 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124356432","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
Giant Cell Tumor of the Middle Phalanx of Ring Finger Treated with Wide Excision and Reconstruction using Non-vascularized Fibular Graft: A Rare Case Report and Review of Literature 非带血管腓骨移植广泛切除重建无名指中指骨巨细胞瘤一例罕见病例报告及文献复习
Annals of Clinical and Medical Case Reports Pub Date : 1900-01-01 DOI: 10.47829/acmcr.2022.81001
A. Rahyussalim, Januar Chrisant Fladimir Makabori, Muhammad Luqman Labib Zufar, T. Kurniawati
{"title":"Giant Cell Tumor of the Middle Phalanx of Ring Finger Treated with Wide Excision and Reconstruction using Non-vascularized Fibular Graft: A Rare Case Report and Review of Literature","authors":"A. Rahyussalim, Januar Chrisant Fladimir Makabori, Muhammad Luqman Labib Zufar, T. Kurniawati","doi":"10.47829/acmcr.2022.81001","DOIUrl":"https://doi.org/10.47829/acmcr.2022.81001","url":null,"abstract":"Giant cell tumor (GCT) involving the hand, specifically the phalangeal bones, is very rare, accounting for only 2% of cases of the bone. This type of GCT is associated with more aggressive behaviour and higher recurrence and metastasis rate. We present a rare case of large GCT of the middle phalanx of ring finger in a 33 year old female. The patient was treated with wide excision and reconstruction using non-vascularized fibular graft. At her most recent follow-up time, 1 year post-surgery, the patient showed no symptoms with neither complication nor recurrence reported.","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121602643","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
Over 5 Years of Complete Antiandrogen Withdrawal Response in a Patient with Prostate Cancer: A Case Report 前列腺癌患者5年以上完全抗雄激素戒断反应:1例报告
Annals of Clinical and Medical Case Reports Pub Date : 1900-01-01 DOI: 10.47829/acmcr.2021.71002
Ryoo H, Choi J, Ryu Jh, Kim Yb, Yang So, Lee， Jk, Jung Ty
{"title":"Over 5 Years of Complete Antiandrogen Withdrawal Response in a Patient with Prostate Cancer: A Case Report","authors":"Ryoo H, Choi J, Ryu Jh, Kim Yb, Yang So, Lee， Jk, Jung Ty","doi":"10.47829/acmcr.2021.71002","DOIUrl":"https://doi.org/10.47829/acmcr.2021.71002","url":null,"abstract":"","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121548733","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
Comparison of Functional Outcomes of above Elbow Backslab Versus Close Reduction and Percutaneous Pinning in Supracondylar Humerus Fracture in Kids 儿童肱骨髁上骨折肘关节上背板与闭合复位经皮钉钉治疗的功能效果比较
Annals of Clinical and Medical Case Reports Pub Date : 1900-01-01 DOI: 10.47829/acmcr.2023.101702
Inam M, Asadullah M, Khan I, Shabir M, Ali MA
{"title":"Comparison of Functional Outcomes of above Elbow Backslab Versus Close Reduction and Percutaneous Pinning in Supracondylar Humerus Fracture in Kids","authors":"Inam M, Asadullah M, Khan I, Shabir M, Ali MA","doi":"10.47829/acmcr.2023.101702","DOIUrl":"https://doi.org/10.47829/acmcr.2023.101702","url":null,"abstract":"","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"43 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122004733","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
Aromatase Mutation in Men: A Case Report and Review of the Literature 男性芳香化酶突变:1例报告及文献回顾
Annals of Clinical and Medical Case Reports Pub Date : 1900-01-01 DOI: 10.47829/acmcr.2021.71401
N. Stumper, Hilke Wientgen, Leith Al-Hashimi, H. Müller, S. Ohrndorf, T. Gaber, H. Siggelkow, P. Hoff
{"title":"Aromatase Mutation in Men: A Case Report and Review of the Literature","authors":"N. Stumper, Hilke Wientgen, Leith Al-Hashimi, H. Müller, S. Ohrndorf, T. Gaber, H. Siggelkow, P. Hoff","doi":"10.47829/acmcr.2021.71401","DOIUrl":"https://doi.org/10.47829/acmcr.2021.71401","url":null,"abstract":"Aromatase Mutation in Men: A Case Report and Review of the Literature Nele A. Stumper1,2, Hilke Wientgen1, Leith Al-Hashimi1, 2, Hans-Werner Müller3, Sarah Ohrndorf2, Timo Gaber2, Heide Siggelkow4 and Paula Hoff1, 2* 1Endokrinologikum Berlin am Gendarmenmarkt Berlin, 10117 Berlin, Germany 2Charite – Universitatsmedizin Berlin, corporate member of Freie Universitat Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Department of Rheumatology and Clinical Immunology, 10117 Berlin 3Amedes Genetik Gottingen, 30159 Gottingen, Germany 4Endokrinologikum Gottingen and Georg-August-Universitat Gottingen, 37075 Göttingen, Germany","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"50 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123682806","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 “3-Level Block” In AVNRT AVNRT中的“3级块”
Annals of Clinical and Medical Case Reports Pub Date : 1900-01-01 DOI: 10.47829/acmcr.2021.7403
B. Robaye, B. Collet, O. Xhaet
{"title":"A “3-Level Block” In AVNRT","authors":"B. Robaye, B. Collet, O. Xhaet","doi":"10.47829/acmcr.2021.7403","DOIUrl":"https://doi.org/10.47829/acmcr.2021.7403","url":null,"abstract":"","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125016870","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
Thoracic Plasmablastic Lymphoma in an Elderly Immunocompetent Patient 老年免疫功能正常患者的胸椎浆母细胞淋巴瘤
Annals of Clinical and Medical Case Reports Pub Date : 1900-01-01 DOI: 10.47829/acmcr.2023.110402
Arthur dos Santos Sena, Adolpho de Barros e Silva de Oliveira, Clara de Andrade Pontual Peres, Duílio Cabral da Costa Neto, Victor Soare Gomes da Silva, César Freire de Melo Vasconcelo, Wolfgang William Schmidt Aguiar
{"title":"Thoracic Plasmablastic Lymphoma in an Elderly Immunocompetent Patient","authors":"Arthur dos Santos Sena, Adolpho de Barros e Silva de Oliveira, Clara de Andrade Pontual Peres, Duílio Cabral da Costa Neto, Victor Soare Gomes da Silva, César Freire de Melo Vasconcelo, Wolfgang William Schmidt Aguiar","doi":"10.47829/acmcr.2023.110402","DOIUrl":"https://doi.org/10.47829/acmcr.2023.110402","url":null,"abstract":"Plasmablastic Lymphoma (PBL) is a rare but extremely aggressive type of non-Hodgkin’s Lymphoma; it is commonly associated with HIV infection, with an incidence of approximately 2.6% among lymphomas in HIV-positive patients. Less frequently, it can also be seen in patients with other immunodeficiencies. The most commonly reported sites of PBL involvement are the oro-nasal cavity and the digestive tract. Its cellular and molecular behavior pose a significant therapeutic challenge, since it is classified as a chemoresistant neoplasm, thus its associated prognosis is usually not favorable. Due to its rarity, there are no well-established protocols for the therapeutic management of patients with this diagnosis. In the present study, we report a case of a thoracic PBL in an HIVnegative patient without other immunodeficiencies, diagnosed by surgical biopsy performed via video-assisted thoracoscopic surgery. Few cases in the literature report this type of neoplasm in immunocompetent patients. 2. Objective","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125088383","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: 2
Coccidioidomycosis Meningitis in an Immunocompetent Worker: A Case Report 免疫工作人员球虫菌性脑膜炎一例报告
Annals of Clinical and Medical Case Reports Pub Date : 1900-01-01 DOI: 10.47829/ACMCR.2021.61302
Bhuyan Rr
{"title":"Coccidioidomycosis Meningitis in an Immunocompetent Worker: A Case Report","authors":"Bhuyan Rr","doi":"10.47829/ACMCR.2021.61302","DOIUrl":"https://doi.org/10.47829/ACMCR.2021.61302","url":null,"abstract":"","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"54 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130154862","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
Acquired SAMD5-RET Fusion-Mediated Resistance to Gefitinib in Metastatic Non-Small Cell Lung Cancer Harboring EGFR-Activating Mutation: A Case Report 携带egfr激活突变的转移性非小细胞肺癌获得性SAMD5-RET融合介导的吉非替尼耐药:一例报告
Annals of Clinical and Medical Case Reports Pub Date : 1900-01-01 DOI: 10.47829/acmcr.2021.71003
Dai S.S, Zhou P, F. M, Q. Z.
{"title":"Acquired SAMD5-RET Fusion-Mediated Resistance to Gefitinib in Metastatic Non-Small Cell Lung Cancer Harboring EGFR-Activating Mutation: A Case Report","authors":"Dai S.S, Zhou P, F. M, Q. Z.","doi":"10.47829/acmcr.2021.71003","DOIUrl":"https://doi.org/10.47829/acmcr.2021.71003","url":null,"abstract":"","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"60 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127919567","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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