Advanced techniques in biology & medicine最新文献

Clinical, Laboratory Data and Outcomes of 17 Iranian Citrullinemia Type1 Patients: Identification of Five Novel ASS1 Gene Mutations 17例伊朗瓜氨酸血症1型患者的临床、实验室数据和结果:鉴定5种新的ASS1基因突变

Advanced techniques in biology & medicine Pub Date : 2021-01-01 DOI: 10.35248/2379-1764.21.9.308

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}

引用次数: 1

Radiolabeling and its Applications in Biology 放射性标记及其在生物学中的应用

Advanced techniques in biology & medicine Pub Date : 2021-01-01 DOI: 10.35248/2379-1764.21.9.285

Rakesh Pranay Battacharya

引用次数: 0

In Molecular Biology, A Short Communication on the Core Dogma ofDNA 在分子生物学中，关于dna核心教条的简短交流

Advanced techniques in biology & medicine Pub Date : 2021-01-01 DOI: 10.35248/2379-1764.21.9.321

Liya Abebe

引用次数: 0

Evaluation of Antibacterial and Wound Healing Activity of Cocos nucifera (Coconut) Husk Ash Extract in Mice 椰子(椰子)壳灰提取物对小鼠的抗菌和伤口愈合活性评价

Advanced techniques in biology & medicine Pub Date : 2021-01-01 DOI: 10.35248/2379-1764.21.9.292

Uchendu Chidiebere

{"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":"25 1","pages":"1-3"},"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}

引用次数: 0

An in-house Approach for Assigning Bone Material Properties of Finite Element Models Applied in ABAQUS 在ABAQUS中应用的有限元模型骨材料属性分配的内部方法

Advanced techniques in biology & medicine Pub Date : 2021-01-01 DOI: 10.35248/2379-1764.21.9.303

Wei-hua Feng, Hang-hang Zhang, Zheng-Kang

引用次数: 0

DNA Extraction by the Utilization of Phenol Chloroform 利用苯酚氯仿提取DNA

Advanced techniques in biology & medicine Pub Date : 2021-01-01 DOI: 10.35248/2379-1764.21.9.318

Sonal Singh

引用次数: 0

Short Communication on Chromatography & it Types 浅谈色谱法及其类型

Advanced techniques in biology & medicine Pub Date : 2021-01-01 DOI: 10.35248/2379-1764.21.9.314

Abram Stacy

引用次数: 0

Molecular Techniques and its Application 分子技术及其应用

Advanced techniques in biology & medicine Pub Date : 2021-01-01 DOI: 10.35248/2379-1764.21.9.293

Richard K. Johanson

引用次数: 0

Notes on Therapeutic Science 治疗科学注释

Advanced techniques in biology & medicine Pub Date : 2021-01-01 DOI: 10.35248/2379-1764.21.9.305

Liam Charlotte

引用次数: 0

The Applications of Biology 生物学的应用

Advanced techniques in biology & medicine Pub Date : 2021-01-01 DOI: 10.35248/2379-1764.21.10.281

Suhasini Salivendra

引用次数: 0