Journal of molecular and genetic medicine : an international journal of biomedical research最新文献

{"title":"Halalopathic: A New Concept in Medicine","authors":"J. Alzeer","doi":"10.4172/1747-0862.1000353","DOIUrl":"https://doi.org/10.4172/1747-0862.1000353","url":null,"abstract":"Halalopathic, the proposed concept, is based on the compatibility between therapy and individual’s belief where the “power of word, tranquility and therapeutic agents” work cooperatively to induce more effective treatment. The healing approach may well affect non-genetic changes that human genome experiences as a result of interaction with the environment. To realize the concept, ingredients and processes need to be evaluated with regards to Halal standard. Halala-Tayyiba label on medicine will reveal to the patient that drug has been prepared under maximum hygiene, minimum contamination and the whole process is clean, pure and comply with Islamic principle. Halalopathic generate compatible system which will reflect on the chemistry of our bodies where disorder is decreased, and ultimately lower the entropy and increase the overall potential energy. The concept promotes personalized therapy and open new window for more effective treatment.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"12 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000353","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41631561","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":"Neuromegen: Achieving rapid diagnosis for neurodevelopmental disorders","authors":"A. Fern, ezMarmiesse","doi":"10.4172/1747-0862-C2-027","DOIUrl":"https://doi.org/10.4172/1747-0862-C2-027","url":null,"abstract":"Background: Whole-exome sequencing (WES) is a clinical diagnostic and research tool designed to identify and classify the arrangement of all protein-coding nuclear genes in the genome. Cases of infertility and recurrent miscarriages complicated by multiple-loop consanguinity may benefit from the implementation of whole-exome sequencing. Case presentation: We report a case of a Kuwaiti consanguineous couple referred to the genetics department with a history of three live births followed by fourteen miscarriages, most of which occurred during the third and fourth months of gestation. The initial routine investigations including the blood tests, thyroid function, imaging, immunological and antibody profile, and chromosomal microarray of both parents were normal. The presence of multiple loops of consanguinity made making a correct diagnosis difficult. The option of whole-exome sequencing to examine the entire exome of both parents was proposed. After taking the patients’ consent, the WES results of the couple revealed them both to be carriers of a previously unreported heterozygous variant of the CEP57 mutation resulting in multiple pregnancies with type 2 mosaic variegated aneuploidy that were incompatible with life. Methods: Whole-exome sequencing was agreed by the treating clinical geneticists as a suitable option to identify the presence of a possible genetic mutation. The age, gender, ethnicity, medical history, family history, consanguinity, laboratory investigation results, clinical interpretation and implication of the results have been documented. Conclusion: The reported case of infertility and recurrent miscarriages associated with multiple-loop consanguinity showed no abnormalities using conventional diagnostic methods. The application of whole-exome sequencing for the couple revealed them to be carriers for the type 2 mosaic variegated aneuploidy syndrome gene CEP57. In cases of multiple-loop consanguinity, whole-exome sequencing should be considered to aid in the diagnosis of the genetic mutations. Introduction Mosaic variegated aneuploidy (MVA), also known as WarburtonAyane-Yeboa Syndrome, is classified by the Genetic and Rare Diseases (GARD) of the National Institute of Health (NIH) as a rare disease and has an autosomal recessive mode of inheritance [1]. MVA is classified into 2 types, MVA type 1 caused by BUB1B gene mutation and MVA type 2, which is less common and is caused by CEP57 gene mutation. Both types, however, result in defective chromosome separation during cell division [1]. The CEP57 gene plays a role in the stability and organization of cell spindle microtubules during cell division [2]. After the cell has duplicated the chromosomes, the spindle microtubules attach to the copies and pull them to opposite poles of the cell, ensuring that each new cell has one complete set of chromosomes; in MVA this organized separation does not occur resulting in mosaicism [2-4]. The CEP57 gene has also been linked to the transport of ","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70961778","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":"Treatment of landfill leachate via advanced biological treatment technology","authors":"L. Chuan","doi":"10.4172/1747-0862-C2-026","DOIUrl":"https://doi.org/10.4172/1747-0862-C2-026","url":null,"abstract":"","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"28 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70961612","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":"Reducing the burden of genetic diseases via IVF and preimplantation genetic diagnosis","authors":"N. Arrach","doi":"10.4172/1747-0862-C1-023","DOIUrl":"https://doi.org/10.4172/1747-0862-C1-023","url":null,"abstract":"","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44990986","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":"How Music Reduces Anxiety and Amount of Sedatives Used in Patients During Surgery","authors":"J. Hock","doi":"10.4172/1747-0862.1000348","DOIUrl":"https://doi.org/10.4172/1747-0862.1000348","url":null,"abstract":"Aim: This literature review provides an overview of published data with regards to the inclusion of music in surgery, and its effects on: (i) The dosage of anaesthesia or sedation and (ii) Stress and anxiety levels. \u0000Methods: An electronic search in various databases was accomplished to identify related articles. Research evidences provided were assessed based on the “hierarchy of evidence” reflecting the authority of various types of medical research i.e., the relative strengths on the main types of research and medical studies. \u0000Results: 14 relevant citations touched on how the use of music during surgery resulted in the decreased dosage of anaesthesia used. A majority of the studies have concluded, based on a large scale of randomized controlled trials, that music did in fact have great positive responses from patients by greatly reducing stress/anxiety levels and also reducing the dosage required for anaesthesia during surgery. \u0000Conclusion: Music is a non-pharmacological alternative and potent intervention in surgical procedures; showing conclusive evidence in reducing the dosages of sedation and anxiety levels in patients.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":" ","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2018-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000348","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47512554","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":"Postural and Gait Abnormality in Even Plus Syndrome","authors":"Dimple G Nagrani, Ade Kurniawan, L. K. Wahyuni, B. Xavier, A. Furga, D. Sjarif","doi":"10.4172/1747-0862.1000350","DOIUrl":"https://doi.org/10.4172/1747-0862.1000350","url":null,"abstract":"Five cases of Even-Plus syndrome have been reported, 2 in the year 19991 and 3 in the year 20152. We recently diagnosed another female patient with Even-Plus syndrome with a postural and gait abnormality. Left patellar dislocation was identified and corrected in order to limit patient’s disability.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":" ","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2018-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000350","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44588262","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":"Betaine Promotes LKB1-AMPK Activation Inhibits UVB-Mediated Senescence of Human Epidermal Keratinocytes Through Autophagy Induction","authors":"Kim Km, Im Ar, S. Chae, Kwon Hj","doi":"10.4172/1747-0862.1000347","DOIUrl":"https://doi.org/10.4172/1747-0862.1000347","url":null,"abstract":"Betaine demonstrations antioxidative activity, enhances organic osmolytic activity and is an important cofactor in methylation. However, the main mechanisms betaine-induced autophagy in human dermal skin cells are not yet completely understood. Therefore, we hypothesized that betaine induces of autophagy. Thus, the autophagic effects exerted by betaine through activation of LKB1-AMPK signaling in human dermal fibroblasts (HDFs) and human epidermal keratinocytes (HEKs) were assessed. Betaine enhanced LKB1 and AMPK phosphorylation in HEKs, and LKB1, AMPK induced autophagy through mTOR downregulation. Beatine-induced autophagy was inhibited in cells transiently transfected with AMPK siRNA. Increased autophagosome activity was confirmed by LC3B-II formation and by increased perinuclear LC3B-II puncta in betaine-treated HEKs. according to our in vitro findings, and in vivo studies in HR-1 hairless mice demonstrated that betaine treatment significantly reduced the activity of the senescence-associated marker β-galactosidase (SA-β-gal) and increased p-LKB1 and p-AMPK levels compared with UVB-irradiated skin tissues. Collectively, our findings suggest that betaine-dependent autophagy diminishes mouse skin senescence and betaine may reduce HEK senescence through an LKB1-AMPK-dependent mechanism.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"12 1","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2018-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000347","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46040926","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":"Whole Exome Sequencing Reveals A Mutation in ELP2 Gene in Iranian Family Suffering from Autosomal Recessive Mental Retardation","authors":"N. Alizadeh, Omran Sp, Birgani Mt, J. Mohammadiasl, M. Hajjari","doi":"10.4172/1747-0862.1000346","DOIUrl":"https://doi.org/10.4172/1747-0862.1000346","url":null,"abstract":"Variety of genes has been reported for intellectual disability in different ethnic group and whole exome sequencing facilitate the way of gene discovery in such heterogeneous diseases. Here, we reported a novel mutation in ELP2 gene (c.2429 G>A) in Iranian case of mental retardation. The gene ELP2 encodes acetyl transferase subunit of RNA polymerase II playing an important role in transcription elongation and chromatin remodeling. The c.2429 G>A mutation predicted as pathogenic and resulted in substitution of amino acid cysteine with tyrosine at position 811 of polypeptide chain. The proband was homozygous of the mutation and received one copy of affected allele from each parent. Although, the association of elongator proteins with neurological diseases is well established, there is only one study reported two missense mutations of ELP2 in the world which was observed in Iranian mental retarded patients. In fact, c.2429 A>G is the third report of ELP2 mutations in Iranian families suffering from mental retardation showing the importance of this gene in Iranian cases although phenotype-genotype correlation is needed.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":" ","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2018-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000346","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42197755","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":"Myotubularin MTM1 Involved in Centronuclear Myopathy and its Roles in Human and Yeast Cells","authors":"D. Bertazzi, J. D. Craene, S. Friant","doi":"10.4172/1747-0862.1000116","DOIUrl":"https://doi.org/10.4172/1747-0862.1000116","url":null,"abstract":"Mutations in the MTM1 gene, encoding the phosphoinositide phosphatase myotubularin, are responsible for the X-linked centronuclear myopathy (XLCNM) or X-linked myotubular myopathy (XLMTM). The MTM1 gene was first identified in 1996 and its function as a PtdIns3P and PtdIns(,5)P2 phosphatase was discovered in 2000. In recent years, very important progress has been made to set up good models to study MTM1 and the XLCNM disease such as knockout or knockin mice, the Labrador Retriever dog, the zebrafish and the yeast Saccharomyces cerevisiae. These helped to better understand the cellular function of MTM1 and of its four conserved domains: PH-GRAM (Pleckstrin Homology-Glucosyltransferase, Rab-like GTPase Activator and Myotubularin), RID (Rac1-Induced recruitment Domain), PTP/DSP (Protein Tyrosine Phosphatase/Dual-Specificity Phosphatase) and SID (SET-protein Interaction Domain). This review presents the cellular function of human myotubularin MTM1 and its yeast homolog yeast protein Ymr1, and the role of MTM1 in the centronuclear myopathy (CNM) disease.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"8 1","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2018-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48066106","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":"Effectiveness of QF-PCR, Karyotyping and Microarray in Detecting Clinically Significant Chromosomal Aberrations of Foetuses with Abnormal Findings on Ultrasound","authors":"Salas Pc, I. Vázquez-Rico, A. Leon-Justel, P. Carreto-Alba, R. Granell-Escobar","doi":"10.4172/1747-0862.1000344","DOIUrl":"https://doi.org/10.4172/1747-0862.1000344","url":null,"abstract":"Objective: The aim of this study was to investigate in our area the clinical utility of QF-PCR, karyotyping and CMA for detecting chromosomal aberrations in fetuses with abnormal findings on first or second trimester ultrasound. \u0000Methods: We performed a retrospective analysis of 139 pregnancies with fetal structural anomaly or ultrasound markers. \u0000Results: Chromosomal abnormalities were identified in 28 patients (20.1% of all cases). Twenty-four of theses abnormalities (17.2% of total) were aneuploidies detected by QF-PCR. The remaining 4 chromosomal abnormalities (2.9% of cases) identified in this study were detected by CMA and/or by karyotyping, and only two genomic aberrations of 28 (1.4%) were identified by CMA but not by QF-PCR and conventional cytogenetics. \u0000Conclusion: QF-PCR must remain as the first-line test in prenatal diagnosis. Further studies with a bigger number of cases are desirable to corroborate the low additional detection rate of CMA analysis in our area.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"12 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2018-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/1747-0862.1000344","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41963280","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}