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Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy 婴儿18p染色体缺失综合征和不对称鼻中隔肥厚的表现
IF 1.7
Global Medical Genetics Pub Date : 2022-02-01 DOI: 10.1055/s-0042-1743261
A. Kocaaga, S. Yimenicioglu
{"title":"Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy","authors":"A. Kocaaga, S. Yimenicioglu","doi":"10.1055/s-0042-1743261","DOIUrl":"https://doi.org/10.1055/s-0042-1743261","url":null,"abstract":"The frequency of 18p deletion syndrome is estimated to be ∼1/50,000 live births and is more commonly associated with certain clinical features including short stature, intellectual disability, and facial dysmorphism. Physical examination of our patient revealed a short stature, intellectual disability, facial dysmorphism (microcephaly, ptosis, epicanthus, low nasal bridge, protruding ears, long philtrum, and thin lips), and clinodactyly of the fifth finger. The peripheral karyotype was 46, XX, del (18) (p11.32p11.2). DNA microarray analysis revealed a de novo 13.9-Mb deletion at 18p11.32p.11.21. Echocardiography revealed asymmetric septal hypertrophy. Congenital cardiac abnormalities are present very rarely in this syndrome. This finding suggests that one locus or loci that play a role in cardiac development is located in this chromosomal region. Although rare, cardiac hypertrophies should be kept in mind when evaluating a patient with phenotypic anomalies and genetic results compatible with an 18p deletion syndrome.","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"9 1","pages":"179 - 181"},"PeriodicalIF":1.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42597066","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
Psoriasis: An Immunogenetic Perspective 银屑病的免疫遗传学研究
IF 1.7
Global Medical Genetics Pub Date : 2022-02-01 DOI: 10.1055/s-0042-1743259
A. Kocaaga, M. Kocaağa
{"title":"Psoriasis: An Immunogenetic Perspective","authors":"A. Kocaaga, M. Kocaağa","doi":"10.1055/s-0042-1743259","DOIUrl":"https://doi.org/10.1055/s-0042-1743259","url":null,"abstract":"Psoriasis is an erythematous-squamous dermatosis with a polygenic inheritance history. Both environmental and genetic factors play a role in the etiology of the disease. Over the past two decades, numerous linkage analyzes and genome-wide association studies have been conducted to investigate the role of genetic variation in disease pathogenesis and progression. To date, >70 psoriasis susceptibility loci have been identified, including HLA-Cw6, IL12B, IL23R, and LCE3B/3C. Some genetic markers are used in clinical diagnosis, prognosis, treatment, and personalized new drug development that can further explain the pathogenesis of psoriasis. This review summarizes the immunological mechanisms involved in the etiopathogenesis of psoriasis and recent advances in susceptibility genes and highlights new potential targets for therapeutic intervention.","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"9 1","pages":"82 - 89"},"PeriodicalIF":1.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47506271","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: 5
The Human Genetics of Dental Anomalies 牙齿畸形的人类遗传学
IF 1.7
Global Medical Genetics Pub Date : 2022-02-01 DOI: 10.1055/s-0042-1743572
M. Khan, Nadeem Ahmed, P. Neela, Nayeem Unnisa
{"title":"The Human Genetics of Dental Anomalies","authors":"M. Khan, Nadeem Ahmed, P. Neela, Nayeem Unnisa","doi":"10.1055/s-0042-1743572","DOIUrl":"https://doi.org/10.1055/s-0042-1743572","url":null,"abstract":"The development of tooth is a highly complex procedure and mastered by specific genetic programs. Genetic alterations, environmental factors, and developmental timing can disturb the execution of these programs, and result in various dental anomalies like hypodontia/oligodontia, and supernumerary teeth, which are commonly seen in our clinical practice. Advances in molecular research enabled the identification of various genes involved in the pathogenesis of dental anomalies. In the near future, it will help provide a more accurate diagnosis and biological-based treatment for these anomalies. In this article, we present the molecular phenomenon of tooth development and the genetics of various dental anomalies.","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"9 1","pages":"76 - 81"},"PeriodicalIF":1.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48752192","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: 5
Genetic Variants and Drug Efficacy in Tuberculosis: A Step toward Personalized Therapy 结核病的遗传变异和药物疗效:迈向个体化治疗的一步
IF 1.7
Global Medical Genetics Pub Date : 2022-02-01 DOI: 10.1055/s-0042-1743567
Almas Khan, M. Abbas, Sushma Verma, Shrikant Verma, A. Rizvi, F. Haider, Syed Tasleem Raza, F. Mahdi
{"title":"Genetic Variants and Drug Efficacy in Tuberculosis: A Step toward Personalized Therapy","authors":"Almas Khan, M. Abbas, Sushma Verma, Shrikant Verma, A. Rizvi, F. Haider, Syed Tasleem Raza, F. Mahdi","doi":"10.1055/s-0042-1743567","DOIUrl":"https://doi.org/10.1055/s-0042-1743567","url":null,"abstract":"Tuberculosis (TB) continues to be a major infectious disease affecting individuals worldwide. Current TB treatment strategy recommends the standard short-course chemotherapy regimen containing first-line drug, i.e., isoniazid, rifampicin, pyrazinamide, and ethambutol to treat patients suffering from drug-susceptible TB. Although Mycobacterium tuberculosis , the causing agent, is susceptible to drugs, some patients do not respond to the treatment or treatment may result in serious adverse reactions. Many studies revealed that anti-TB drug-related toxicity is associated with genetic variations, and these variations may also influence attaining maximum drug concentration. Thus, inter-individual diversities play a characteristic role by influencing the genes involved in drug metabolism pathways. The development of pharmacogenomics could bring a revolution in the field of treatment, and the understanding of germline variants may give rise to optimized targeted treatments and refine the response to standard therapy. In this review, we briefly introduced the field of pharmacogenomics with the evolution in genetics and discussed the pharmacogenetic impact of genetic variations on genes involved in the activities, such as anti-TB drug transportation, metabolism, and gene regulation.","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"9 1","pages":"90 - 96"},"PeriodicalIF":1.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45356095","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: 3
Comparison of Bioinformatics Approaches for Fetal Microdeletions and Monogenic Variations Estimation in Non-invasive Prenatal Testing 无创产前检测中胎儿微缺失和单基因变异的生物信息学方法比较
IF 1.7
Global Medical Genetics Pub Date : 2022-02-01 DOI: 10.1055/s-0042-1743573
Lizzy Teleboshe Paul, M. C. Ergoren
{"title":"Comparison of Bioinformatics Approaches for Fetal Microdeletions and Monogenic Variations Estimation in Non-invasive Prenatal Testing","authors":"Lizzy Teleboshe Paul, M. C. Ergoren","doi":"10.1055/s-0042-1743573","DOIUrl":"https://doi.org/10.1055/s-0042-1743573","url":null,"abstract":"Prenatal testing provides crucial information about the health status of fetuses as well as recommending better treatment. For the past decades, prenatal testing using chorionic villus sampling and amniocentesis were the two majorly used forms of invasive prenatal diagnostic approaches. However, to facilitate prenatal testing without causing any danger to the fetus, the noninvasive prenatal diagnostic method, which uses circulating cell-free deoxyribonucleic acid (DNA), has become a suitable method of prenatal diagnosis. This review discusses the recent bioinformatics approaches used for analyzing fetal DNA concentration.","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"9 1","pages":"72 - 75"},"PeriodicalIF":1.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47316047","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
Determinants in Tailoring Antidiabetic Therapies: A Personalized Approach 定制抗糖尿病治疗的决定因素:个性化方法
IF 1.7
Global Medical Genetics Pub Date : 2022-01-01 DOI: 10.1055/s-0041-1741109
A. Rizvi, M. Abbas, Sushma Verma, Shrikant Verma, Almas Khan, Syed Tasleem Raza, F. Mahdi
{"title":"Determinants in Tailoring Antidiabetic Therapies: A Personalized Approach","authors":"A. Rizvi, M. Abbas, Sushma Verma, Shrikant Verma, Almas Khan, Syed Tasleem Raza, F. Mahdi","doi":"10.1055/s-0041-1741109","DOIUrl":"https://doi.org/10.1055/s-0041-1741109","url":null,"abstract":"Diabetes has become a pandemic as the number of diabetic people continues to rise globally. Being a heterogeneous disease, it has different manifestations and associated complications in different individuals like diabetic nephropathy, neuropathy, retinopathy, and others. With the advent of science and technology, this era desperately requires increasing the pace of embracing precision medicine and tailoring of drug treatment based on the genetic composition of individuals. It has been previously established that response to antidiabetic drugs, like biguanides, sulfonylureas, dipeptidyl peptidase-4 (DPP-4) inhibitors, glucagon-like peptide 1 (GLP-1) agonists, and others, depending on variations in their transporter genes, metabolizing genes, genes involved in their action, etc . Responsiveness of these drugs also relies on epigenetic factors, including histone modifications, miRNAs, and DNA methylation, as well as environmental factors and the lifestyle of an individual. For precision medicine to make its way into clinical procedures and come into execution, all these factors must be reckoned with. This review provides an insight into several factors oscillating around the idea of precision medicine in type-2 diabetes mellitus.","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"9 1","pages":"63 - 71"},"PeriodicalIF":1.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42870017","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
Contributing Reviewers in 2021 2021年度特约评审员
IF 1.7
Global Medical Genetics Pub Date : 2022-01-01 DOI: 10.1055/s-0041-1742284
{"title":"Contributing Reviewers in 2021","authors":"","doi":"10.1055/s-0041-1742284","DOIUrl":"https://doi.org/10.1055/s-0041-1742284","url":null,"abstract":"","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"9 1","pages":"i - iv"},"PeriodicalIF":1.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42429091","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
Molecular Detection of blaOXA -type Carbapenemase Genes and Antimicrobial Resistance Patterns among Clinical Isolates of Acinetobacter baumannii 鲍曼不动杆菌blaOXA型碳青霉烯酶基因的分子检测及耐药性分析
IF 1.7
Global Medical Genetics Pub Date : 2021-12-01 DOI: 10.1055/s-0041-1740019
M. Kafshnouchi, Marzieh Safari, Amir Khodavirdipour, A. Bahador, S. H. Hashemi, Mohammad Sina Alikhani, M. Saidijam, M. Alikhani
{"title":"Molecular Detection of blaOXA -type Carbapenemase Genes and Antimicrobial Resistance Patterns among Clinical Isolates of Acinetobacter baumannii","authors":"M. Kafshnouchi, Marzieh Safari, Amir Khodavirdipour, A. Bahador, S. H. Hashemi, Mohammad Sina Alikhani, M. Saidijam, M. Alikhani","doi":"10.1055/s-0041-1740019","DOIUrl":"https://doi.org/10.1055/s-0041-1740019","url":null,"abstract":"Abstract Acinetobacter baumannii is a bacterium found in most places, especially in clinics and hospitals, and an important agent of nosocomial infections. The presence of class D enzymes such as OXA-type carbapenemases in A. baumannii is proven to have a key function in resistance to carbapenem. The aim of the current study is to determine the blaOXA-type carbapenemase genes and antimicrobial resistance among clinically isolated samples of A. baumannii. We assessed 100 clinically isolated specimens of A. baumannii from patients in intensive care units of educational hospitals of Hamadan, West of Iran. The A. baumannii isolates' susceptibility to antibiotics was performed employing disk diffusion method. Multiplex polymerase chain reaction was used to identify the blaOXA-24-like , blaOXA-23-like , blaOXA-58-like , and blaOXA-51-like genes. The blaOXA-23-like , blaOXA-24-like , and blaOXA-58-like genes' prevalence were found to be 84, 58, and 3%, respectively. The highest coexistence of the genes was for blaOXA-51/23 (84%) followed by blaOXA-51/24-like (58%). The blaOXA-51/23- like pattern of genes is a sort of dominant gene in resistance in A. baumannii from Hamadan hospitals. The highest resistance to piperacillin (83%) and ciprofloxacin (81%) has been observed in positive isolates of blaOXA-23-like . The A. baumannii isolates with blaOXA-58-like genes did not show much resistance to antibiotics. Based on the results of the phylogenetic tree analysis, all isolates have shown a high degree of similarity. This study showed the high frequency of OXA-type carbapenemase genes among A. baumannii isolates from Hamadan hospitals, Iran. Thus, applying an appropriate strategy to limit the spreading of these strains and also performing new treatment regimens are necessary.","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"9 1","pages":"118 - 123"},"PeriodicalIF":1.7,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43750652","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: 3
Epigenetic Approach to PTSD: In the Aspects of Rat Models. 创伤后应激障碍的表观遗传学方法:在大鼠模型方面。
IF 1.7
Global Medical Genetics Pub Date : 2021-11-11 eCollection Date: 2022-03-01 DOI: 10.1055/s-0041-1736633
Asli Aykac, Rasime Kalkan
{"title":"Epigenetic Approach to PTSD: In the Aspects of Rat Models.","authors":"Asli Aykac,&nbsp;Rasime Kalkan","doi":"10.1055/s-0041-1736633","DOIUrl":"https://doi.org/10.1055/s-0041-1736633","url":null,"abstract":"<p><p>Posttraumatic stress disorder (PTSD) is a stress-related mental disorder and develops after exposure to life-threatening traumatic experiences. The risk factors of PTSD included genetic factors; alterations in hypothalamic-pituitary-adrenal (HPA) axis; neurotrophic, serotonergic, dopaminergic, and catecholaminergic systems; and a variety of environmental factors, such as war, accident, natural disaster, pandemic, physical, or sexual abuse, that cause stress or trauma in individuals. To be able to understand the molecular background of PTSD, rodent animal models are widely used by researchers. When looking for a solution for PTSD, it is important to consider preexisting genetic risk factors and physiological, molecular, and biochemical processes caused by trauma that may cause susceptibility to this disorder. In studies, it is reported that epigenetic mechanisms play important roles in the biological response affected by environmental factors, as well as the task of programming cell identity. In this article, we provided an overview of the role of epigenetic modifications in understanding the biology of PTSD. We also summarized the data from animal studies and their importance during the investigation of PTSD. This study shed light on the epigenetic background of stress and PTSD.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"9 1","pages":"7-13"},"PeriodicalIF":1.7,"publicationDate":"2021-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8837403/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39789342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period. 先天性心脏病产前基因改变的研究。
IF 1.7
Global Medical Genetics Pub Date : 2021-11-09 eCollection Date: 2022-03-01 DOI: 10.1055/s-0041-1736566
Emine Ikbal Atli, Engin Atli, Sinem Yalcintepe, Selma Demir, Rasime Kalkan, Cisem Akurut, Yasemin Ozen, Hakan Gurkan
{"title":"Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period.","authors":"Emine Ikbal Atli,&nbsp;Engin Atli,&nbsp;Sinem Yalcintepe,&nbsp;Selma Demir,&nbsp;Rasime Kalkan,&nbsp;Cisem Akurut,&nbsp;Yasemin Ozen,&nbsp;Hakan Gurkan","doi":"10.1055/s-0041-1736566","DOIUrl":"https://doi.org/10.1055/s-0041-1736566","url":null,"abstract":"<p><p>The prenatal diagnosis of congenital heart disease (CHD) is important because of mortality risk. The onset of CHD varies, and depending on the malformation type, the risk of aneuploidy is changed. To identify possible genetic alterations in CHD, G-banding, chromosomal microarray or if needed DNA mutation analysis and direct sequence analysis should be planned. In present study, to identify genetic alterations, cell culture, karyotype analysis, and single nucleotide polymorphism, array analyses were conducted on a total 950 samples. Interventional prenatal genetic examination was performed on 23 (2, 4%, 23/950) fetal CHD cases. Chromosomal abnormalities were detected in 5 out of 23 cases (21, 7%). Detected chromosomal abnormalities were 10q23.2 deletion, trisomy 18, 8p22.3-p23.2 deletion, 8q21.3-q24.3 duplication, 11q24.2q24.5 (9 Mb) deletion, and 8p22p12 (16.8 Mb) deletion. Our study highlights the importance of genetic testing in CHD.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"9 1","pages":"29-33"},"PeriodicalIF":1.7,"publicationDate":"2021-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8837410/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39789346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
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