S. Moarefian, M. Zamani, Ali Rahmanifar, B. Behnam, T. Zaman
{"title":"Clinical, Laboratory Data and Outcomes of 17 Iranian Citrullinemia Type1 Patients: Identification of Five Novel ASS1 Gene Mutations","authors":"S. Moarefian, M. Zamani, Ali Rahmanifar, B. Behnam, T. Zaman","doi":"10.35248/2379-1764.21.9.308","DOIUrl":"https://doi.org/10.35248/2379-1764.21.9.308","url":null,"abstract":"Background: Citrullinemia type 1 (CTLN1) is an autosomal recessive metabolic disease caused by ASS1 gene mutations encoding argininosuccinic acid synthase enzyme which is within the pathway of arginine and nitric oxide biosynthesis. Methods: Disease confirmation was done by ASS1 gene mutation analysis using Next Generation Sequencing, DNA Sanger sequencing and bioinformatics. The study group members were17 citrullinemia type1 patients from 10 unrelated families referred to Iranian National Society for the Study of Inborn Errors of Metabolism’s clinic between 2008-2020. Clinical, laboratory and molecular data were retrospectively evaluated. Results: Eleven different ASS1 gene mutations were detected. Presentation: 3/17 (76%) neonatal, 3/17 (18%) late infantile, 1/17(6%) asymptomatic. Severe developmental delay and intractable seizures despite metabolic control was the only surviver of neonatal form outcome. Two patients with late infantile form live metabolically and seizure controlled with quite normal performance. DNA mutations: 7 missense, 1 nonsense, and 2 indel mutations in twelve, two, three patients, respectively. Five novel mutations were detected including a homozygous GG deletion in exon 11 (c.790_791delGG; G264Pfs*3) and a homozygous mutation in exon 6 (c.440C>T; p.M147T), both leading to infantile form; a homozygous mutation in exon 14 (c.1130T>C; p.M377T) leading to neonatal form; two compound heterozygote mutations in exon 14 (c.1167_1168insC& c.1186T>A; p.S396T) leading to asymptomatic form. Five patients (38%) with classic neonatal form had mutation in exon14 of ASS1 (c.1168G>A; p.G390R). Conclusions: Classic neonatal form was the most common form of disease in Iranian studied patients and exon 14: c.1168G>A; (p.G390R) was the most frequent ASS1 gene mutation. Global neonatal screening in Iran is recommended for citrullinemia type1 and certain mutations can be used for screening lethal form of disease in this population.","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":"21 1","pages":"1-9"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74257306","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}
{"title":"An in-house Approach for Assigning Bone Material Properties of Finite Element Models Applied in ABAQUS","authors":"Wei-hua Feng, Hang-hang Zhang, Zheng-Kang","doi":"10.35248/2379-1764.21.9.303","DOIUrl":"https://doi.org/10.35248/2379-1764.21.9.303","url":null,"abstract":"Strategy of assignment influences the accuracy of CT-image based bone material properties of finite element model. An in-house assigning package was produced and compared the predicted results (stress and strain) with Bonemat 3.2 using a validated TCVO finite element model in physiological loading condition. The stress had local consistency and much variability was addressed including the strain prediction. May be different algorithms between assigning packages was the reason. Optimizing the algorithm and more tests are needed further to improve the accuracy of assigning bone material properties for ABAQUS users.","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":"10 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81036120","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}
{"title":"DNA Extraction by the Utilization of Phenol Chloroform","authors":"Sonal Singh","doi":"10.35248/2379-1764.21.9.318","DOIUrl":"https://doi.org/10.35248/2379-1764.21.9.318","url":null,"abstract":"","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":"6 1","pages":"1-1"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74510857","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}
{"title":"Short Communication on Chromatography & it Types","authors":"Abram Stacy","doi":"10.35248/2379-1764.21.9.314","DOIUrl":"https://doi.org/10.35248/2379-1764.21.9.314","url":null,"abstract":"","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":"22 1","pages":"1-1"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78844085","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}
{"title":"Molecular Techniques and its Application","authors":"Richard K. Johanson","doi":"10.35248/2379-1764.21.9.293","DOIUrl":"https://doi.org/10.35248/2379-1764.21.9.293","url":null,"abstract":"","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":"21 1","pages":"1-1"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78422919","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}
{"title":"Opinion on Radioimmunoassay and its Important","authors":"Gurprit Rana","doi":"10.35248/2379-1764.21.9.316","DOIUrl":"https://doi.org/10.35248/2379-1764.21.9.316","url":null,"abstract":"","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":"14 1","pages":"1-1"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86894389","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}
{"title":"Diabetes and it Complications in Future","authors":"Gunwoong Kim","doi":"10.35248/2379-1764.21.9.290","DOIUrl":"https://doi.org/10.35248/2379-1764.21.9.290","url":null,"abstract":"","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":"24 1","pages":"1-1"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82211259","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}
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
