Pub Date : 2021-01-01DOI: 10.35248/2379-1764.21.9.308
S. Moarefian, M. Zamani, Ali Rahmanifar, B. Behnam, T. Zaman
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.
{"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":null,"pages":null},"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}
Pub Date : 2021-01-01DOI: 10.35248/2379-1764.21.9.285
Rakesh Pranay Battacharya
{"title":"Radiolabeling and its Applications in Biology","authors":"Rakesh Pranay Battacharya","doi":"10.35248/2379-1764.21.9.285","DOIUrl":"https://doi.org/10.35248/2379-1764.21.9.285","url":null,"abstract":"","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81637105","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}
Pub Date : 2021-01-01DOI: 10.35248/2379-1764.21.9.321
Liya Abebe
{"title":"In Molecular Biology, A Short Communication on the Core Dogma ofDNA","authors":"Liya Abebe","doi":"10.35248/2379-1764.21.9.321","DOIUrl":"https://doi.org/10.35248/2379-1764.21.9.321","url":null,"abstract":"","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79557081","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}
Pub Date : 2021-01-01DOI: 10.35248/2379-1764.21.9.292
Uchendu Chidiebere
The present study was carried out to evaluate the antibacterial activity of crude ethanolic extract of Cocos nucifera(coconut) husk ash against some pathogenic bacteria (Staphylococcus aureus, Pseudomonas aeruginosa and Escherichia coli)and their wound healing potential in experimental rats. The wound healing potential of the ethanolic extractointment of Cocos nucifera(coconut) husk ash was evaluated in albino rats using excision wound model. Eighteen ratswere divided into three groups of six each. Group 1 received no treatment (blank ointment base) which is thenegative control, Group II received treatment with 1% silver sulphidiazine and group III received treatment withcoconut husk ash extract. 1% silver sulphidiazine ointment was used as standard for the activity comparison. Woundhealing was monitored on day 4, 8, 12 and 16. Wound healing parameters such as percentage of wound contractionrate and epithelialization period were observed. Studies on the antibacterial activity of crude ethanolic extract ofcoconut husk ash was conducted using agar well diffusion method and the minimum inhibitory concentration wasalso determined. The results showed that topical application of coconut husk ash extract incorporated into anointment base served to accelerate the wound healing process and specifically increased epithelialization in treatmentgroups compared to the other groups. The ethanolic extract of Cocos nucifera(coconut) husk ash inhibited growth ofall test organisms though it was dose dependent. The minimum inhibitory concentration values obtained for thecoconut husk ash extract against Escherichia coli,Staphylococcus aureus and Pseudomonas aeruginosa was 8 mg/ml,8 mg/ml and 10 mg/ml respectively. The results obtained shows that the Cocos nucifera (coconut) husk ash extract has a good wound healing and antibacterial activity and may be useful in managing wounds.
{"title":"Evaluation of Antibacterial and Wound Healing Activity of Cocos nucifera (Coconut) Husk Ash Extract in Mice","authors":"Uchendu Chidiebere","doi":"10.35248/2379-1764.21.9.292","DOIUrl":"https://doi.org/10.35248/2379-1764.21.9.292","url":null,"abstract":"The present study was carried out to evaluate the antibacterial activity of crude ethanolic extract of Cocos nucifera(coconut) husk ash against some pathogenic bacteria (Staphylococcus aureus, Pseudomonas aeruginosa and Escherichia coli)and their wound healing potential in experimental rats. The wound healing potential of the ethanolic extractointment of Cocos nucifera(coconut) husk ash was evaluated in albino rats using excision wound model. Eighteen ratswere divided into three groups of six each. Group 1 received no treatment (blank ointment base) which is thenegative control, Group II received treatment with 1% silver sulphidiazine and group III received treatment withcoconut husk ash extract. 1% silver sulphidiazine ointment was used as standard for the activity comparison. Woundhealing was monitored on day 4, 8, 12 and 16. Wound healing parameters such as percentage of wound contractionrate and epithelialization period were observed. Studies on the antibacterial activity of crude ethanolic extract ofcoconut husk ash was conducted using agar well diffusion method and the minimum inhibitory concentration wasalso determined. The results showed that topical application of coconut husk ash extract incorporated into anointment base served to accelerate the wound healing process and specifically increased epithelialization in treatmentgroups compared to the other groups. The ethanolic extract of Cocos nucifera(coconut) husk ash inhibited growth ofall test organisms though it was dose dependent. The minimum inhibitory concentration values obtained for thecoconut husk ash extract against Escherichia coli,Staphylococcus aureus and Pseudomonas aeruginosa was 8 mg/ml,8 mg/ml and 10 mg/ml respectively. The results obtained shows that the Cocos nucifera (coconut) husk ash extract has a good wound healing and antibacterial activity and may be useful in managing wounds.","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88522638","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}
Pub Date : 2021-01-01DOI: 10.35248/2379-1764.21.9.303
Wei-hua Feng, Hang-hang Zhang, Zheng-Kang
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.
{"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":null,"pages":null},"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}
Pub Date : 2021-01-01DOI: 10.35248/2379-1764.21.9.318
Sonal Singh
{"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":null,"pages":null},"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}
Pub Date : 2021-01-01DOI: 10.35248/2379-1764.21.9.314
Abram Stacy
{"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":null,"pages":null},"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}
Pub Date : 2021-01-01DOI: 10.35248/2379-1764.21.9.293
Richard K. Johanson
{"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":null,"pages":null},"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}
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