Journal of molecular and genetic medicine : an international journal of biomedical research最新文献_第5页

Editorial Note for Journal of Molecular and Genetic Medicine. 《分子与遗传医学杂志》编辑说明。

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2020-01-01 DOI: 10.37421/jmgm.2020.14.458

B. Rita

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Live Birth of a Healthy Boy after Preimplantation Genetic Testing for X-Linked Choroideremia Disorder x连锁脉络膜疾病植入前基因检测后健康男孩的活产

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2020-01-01 DOI: 10.37421/jmgm.2020.14.450

Tatsi P, Papoulidis I, Timotheou E, Chartomatsidou T, A. M, Zafeiratis O, Najdecki R, Athanasiadis A, Papanikolaou Eg

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Rare Double Aneuploidy in Down Syndrome (Down-Klinefelter Syndrome) 唐氏综合征(Down- klinefelter Syndrome)罕见双非整倍体

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2020-01-01 DOI: 10.37421/JMGM.2020.14.444

Al-Buali Majed J, Al-Nahwi Fawatim A, Al-Nowaiser Naziha A, A. A, Al-Khamis Abdullah H, Al-Bahrani Hassan M

{"title":"Rare Double Aneuploidy in Down Syndrome (Down-Klinefelter Syndrome)","authors":"Al-Buali Majed J, Al-Nahwi Fawatim A, Al-Nowaiser Naziha A, A. A, Al-Khamis Abdullah H, Al-Bahrani Hassan M","doi":"10.37421/JMGM.2020.14.444","DOIUrl":"https://doi.org/10.37421/JMGM.2020.14.444","url":null,"abstract":"Background: The chromosomal aneuploidy described as Cytogenetic condition characterized by abnormality in numbers of the chromosome. Aneuploid patient either trisomy or monosomy, can occur in both sex chromosomes as well as autosome chromosomes. However, double aneuploidies involving both sex and autosome chromosomes relatively a rare phenomenon. In present study, we reported a double aneuploidy (Down-Klinefelter syndrome) in infant from Saudi Arabia. Materials and Methods: In the present investigation, chromosomal analysis (standard chromosomal karyotyping) and fluorescence in situ hybridization (FISH) were performed according to the standard protocols. Results: Here, we report a single affected individual (boy) having Saudi origin, suffering from double chromosomal aneuploidy. The main presenting complaint is the obvious dysmorphic features suggesting Down syndrome. Chromosomal analysis and FISH revealed 48,XXY,+21, show the presence of three copies of chromosome 21, two copies of X chromosome and one copy of Y chromosome chromosomes. Conclusion: Patients with Down syndrome must be tested for other associated sex chromosome aneuploidies. Hence, proper diagnosis is needed for proper management and the cytogenetic tests should be performed as the first diagnostic approach.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"14 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70054239","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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Comparative chromatographic analysis and pharmacodynamic activities of aqueous mushroom extracts (Pleurotus Tuber-Regium) with other antiglaucoma drugs 蘑菇水提物与其它抗青光眼药物的色谱分析及药效活性比较

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2020-01-01 DOI: 10.4314/JMBR.V19I1

G. Akinlabi, Kelly E. Omoruyi

{"title":"Comparative chromatographic analysis and pharmacodynamic activities of aqueous mushroom extracts (Pleurotus Tuber-Regium) with other antiglaucoma drugs","authors":"G. Akinlabi, Kelly E. Omoruyi","doi":"10.4314/JMBR.V19I1","DOIUrl":"https://doi.org/10.4314/JMBR.V19I1","url":null,"abstract":"Experimental studies have shown that aqueous extract of Pleurotus tuber-regium (PT) caused a reduction in steroid induced ocular hypertension in feline models and a contractile effect on isolated bovine iris. A comparative thin layer chromatographic study and Ultraviolet-Visible spectrophotometric analysis (TLC-UVS) of PT in comparison with known antiglaucoma drugs (0.5% betaxolol, 0.5% timolol maleate, 2% pilocarpine, and 0.005% latanoprost) was carried out to identify their similarities. Graded concentrations (5mg/ml, 10mg/ml, 20mg/ml and 40mg/ml) of PT were spotted along with the drugs on prepared glass plates. Silica type 60 gel served as the stationary phase while a solvent system of 50ml chloroform and 50ml absolute ethanol was used as the solvent system. On completion, comparison was made between the extracts and the drugs based on their migration speeds and retardation factors. Further analytic studies were carried out on the filtrates gotten from thin layer chromatography with an Ultraviolet-Visiblespectrophotometer. Thin layer chromatographic (TLC) analysis showed that the extracts compared favorably with the drugs under study, particularly with timolol maleate and latanoprost, as they had similar migration distances and retardation factors (R ). f Spectrophotometry revealed that the extract has an absorption spectrum within the ultra-violet wavelength range with a λmax of 260nm, this is comparable to the known absorption spectra of the anti-glaucoma drugs. PT may likely have similar substances with known anti glaucoma drugs. This is a preliminary evaluation of the crude aqueous extract of PT. Key Words: Antiglaucoma drugs, Chromatographic Analysis, Pharmacodynamics, Pleurotus tuber-regium.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"38 1","pages":"4-12"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73735980","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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Expression Of Human Basic Fibroblast Growth Factor Mediated By Mini Intein In Bacillus Subtilis 迷你蛋白介导的人碱性成纤维细胞生长因子在枯草芽孢杆菌中的表达

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2020-01-01 DOI: 10.37421/1747-0862.2020.14.463

Wumesh Kc, Kwong Wy, Chau Jcy, Choi Mc, Chung Csk

{"title":"Expression Of Human Basic Fibroblast Growth Factor Mediated By Mini Intein In Bacillus Subtilis","authors":"Wumesh Kc, Kwong Wy, Chau Jcy, Choi Mc, Chung Csk","doi":"10.37421/1747-0862.2020.14.463","DOIUrl":"https://doi.org/10.37421/1747-0862.2020.14.463","url":null,"abstract":"Bacillus subtilis (B. subtilis) is an ideal host system in production of homologous proteins. However, the production of heterologous proteins in B. subtilis is rare due to low expression levels encountered in most cases. Inteins, also known as ‘protein intron’, which is capable of excised itself from its fusion partners, have been employed for the expression of recombinant proteins in various host systems especially in Escherichia coli (E. coli) but yet, only few paucity of employment of inteins for protein expression in B. subtilis has been found. In this communication, we demonstrated that B. subtilis was able to facilitate auto-cleavages between intein and C-extein. The construct, pECBS1-H6-DnaE-bFGF, in which a 6x His-tag (H6) and basic fibroblast growth factor (bFGF) were fused at the N- and C-terminus of Asp DnaE (intein) respectively, was shown to be capable of processing intracellular expression and auto-cleavages of bFGF with same primary sequence as Homo Sapiens. Moreover, switching shake of flask cultivation to small fermentative scale yielded 113 mg L-1 of biologically active bFGF. This approach of using intein Asp DnaE for the production of heterologous proteins is highly productive and should be explored further for industrial application.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"14 1","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70041123","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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Emerging Molecular Approaches for Estimation of PostMortem Interval in Medico-Legal Practice 新兴的分子方法估计死后时间在医学法律实践

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2020-01-01 DOI: 10.37421/1747-0862.2020.14.465

M. Hachem, A. John, Said Hb, A. Salim, S. Zakkir, Alkash As, D. Jimmy

引用次数: 1

Donnai– Barrow Syndrome in Two Sisters with a Homozygous LRP2 Mutation and Renal Dysfunction. Integral Management of the Disease with Review of the Literature. 纯合子LRP2突变和肾功能不全的两姐妹的Donnai - Barrow综合征。疾病的综合管理与文献综述。

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2020-01-01 DOI: 10.37421/jmgm.2020.14.451

Ramón Peces, F. Santos-Simarro, M. Palomares-Bralo, C. Peces, Rufo, M. Solís-López, R. Mena, R. Selgas, P. Lapunzina, J. Nevado

{"title":"Donnai– Barrow Syndrome in Two Sisters with a Homozygous LRP2 Mutation and Renal Dysfunction. Integral Management of the Disease with Review of the Literature.","authors":"Ramón Peces, F. Santos-Simarro, M. Palomares-Bralo, C. Peces, Rufo, M. Solís-López, R. Mena, R. Selgas, P. Lapunzina, J. Nevado","doi":"10.37421/jmgm.2020.14.451","DOIUrl":"https://doi.org/10.37421/jmgm.2020.14.451","url":null,"abstract":"Objectives: Donnai–Barrow syndrome (DBS) or facio oculo acoustic renal (FOAR) syndrome, DBS/FOAR (MIM# 227290) is caused by mutations in the LRP2 gene (MIM# 600073). Disease severity and penetrance vary greatly among patients carrying the same pathogenic variant(s) and single-gene variants often do not reliably predict the disease phenotypes. Background: The LRP2 gene located on chromosome 2q31.1 band encodes megalin, a multi-ligand endocytic receptor. There are less than 50 cases reported worldwide. Cases presentation: We report two Ecuadorian sisters born from consanguineous parents carrying a homozygous LRP2 mutation in intron 44 NM_004525.2:c.8452+1G>A. Both individuals, aged 23 and 20 years respectively, presented classical clinical features of the DBS/FOAR including craniofacial dysmorphology, hypertelorism, ocular anomalies, cataracts, high myopia, and sensorineural deafness associated with renal dysfunction (proteinuria, hypercalciuria and hypocitraturia). Both sisters were treated with hearing aids, cochlear implants, corrective lenses, cataracts surgery, vitamin D and potassium citrate supplementation, and renal protection with angiotensin II receptor antagonists. Conclusion: As far as we know, this is the first family of DBS/FOAR resulting from consanguineous parents with a LRP2 splice site mutation NM_004525.2:c.8452+1G>A, with a complete characterization of the renal phenotype and follow-up.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"14 1","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70054916","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

Ramatroban as a Novel Immunotherapy for COVID-19. 拉马特罗班作为一种新型免疫疗法治疗 COVID-19。

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2020-01-01 Epub Date: 2020-07-30 DOI: 10.37421/jmgm.2020.14.457

Ajay Gupta, Kamyar Kalantar-Zadeh, Srinivasa T Reddy

{"title":"Ramatroban as a Novel Immunotherapy for COVID-19.","authors":"Ajay Gupta, Kamyar Kalantar-Zadeh, Srinivasa T Reddy","doi":"10.37421/jmgm.2020.14.457","DOIUrl":"10.37421/jmgm.2020.14.457","url":null,"abstract":"SARS-CoV-2 virus suppresses host innate and adaptive immune responses, thereby allowing the virus to proliferate, and cause multiorgan failure, especially in the elderly. Respiratory viruses stimulate cyclooxygenase-2 (COX-2) to generate prostanoids including Prostaglandin D2 (PGD2) and thromboxane A2. Furthermore, PGD2 concentrations in the airways increase with aging. PGD2 action mediated via DP2 receptors suppresses both innate and adaptive immune responses, by inhibiting interferon-λ and stimulation of myeloid monocyte-derived suppressor cells respectively. PGD2 and thromboxane A2 actions via the TP receptors activate platelets leading to a prothrombotic state. Ramatroban, a small-molecule antagonist of DP2 and TP receptors, reverses viremia-associated proinflammatory, immunosuppressive5 and prothrombotic processes which are similar to those induced by SARS-Cov-2. Ramatroban, used for the treatment of allergic rhinitis in Japan for the past 20 years has an excellent safety profile. Therefore, Ramatroban merits investigation as a novel immunotherapy for the treatment of COVID-19 disease.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"14 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7500620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38402011","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}

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A Retrospective Review of Copy Number Variants and Ultrasound-Detected Soft Markers 拷贝数变异和超声检测软标记物的回顾性研究

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2020-01-01 DOI: 10.37421/JMGM.2020.14.448

Kajal Angras, Lindsay Bailey, Pallvi K. Singh, A. Young, J. Ross

{"title":"A Retrospective Review of Copy Number Variants and Ultrasound-Detected Soft Markers","authors":"Kajal Angras, Lindsay Bailey, Pallvi K. Singh, A. Young, J. Ross","doi":"10.37421/JMGM.2020.14.448","DOIUrl":"https://doi.org/10.37421/JMGM.2020.14.448","url":null,"abstract":"Objective: To examine the association of copy number variants (CNV) among fetuses with ultrasound-detected soft markers (USM). Methods: This IRB-approved retrospective cohort study of fetuses with prenatal or children with postnatal chromosomal microarray analysis (CMA) sought to examine an association between clinically relevant CNV (classified as pathogenic CNV or variants of uncertain significance (VUS)) and USM in women who delivered at Geisinger between January 2010 and July 2018. The following USM were evaluated: choroid plexus cyst, thickened nuchal fold, absent or hypoplastic nasal bone, echogenic intracardiac focus, echogenic bowel, short long bones, and urinary tract dilation. Fetuses or children with known aneuploidy or a single gene disorder were excluded. Odds ratios (OR) of the association between CNV and USM were reported along with associated 95% confidence intervals (CI) and p-values. P values <0.05 were considered significant. Results: Of the 348 fetuses/children, 89 (25.6%) had a clinically relevant CNV. Similar percentages of demographic, delivery and neonate characteristics were noted for those with a clinically relevant CNV and those with a normal microarray analysis. No statistically significant differences were noted among those fetuses/children with a clinically relevant CNV and structural anomaly (p = 0.52; OR 1.18, 95% CI 0.72-1.92), presence of one USM (p = 0.72; OR 1.52, 95% CI 0.79-2.92), or presence of more than one USM (p = 0.79; OR 1.56, 95% CI 0.28-8.72). Conclusion: Our data supports a lack of association between a clinically relevant copy number variant and an ultrasound-detected soft marker. A small statistically insignificant increase in odds of a clinically relevant CNV was noted for those fetuses/children with one or more USM.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"14 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70054407","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

Unusual Presentation of Mitochondrial Depletion Syndrome Related to FBXL4: A Case Report 与FBXL4相关的线粒体耗竭综合征的异常表现:一例报告

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2020-01-01 DOI: 10.37421/jmgm.2020.14.456

J. Al-BualiMajed, R. AlhamadAnwar, J. Al-ObaidJaafer, N. Al-MotawaMossa, A. Al-YaseenMujtaba, Dr. Aleem Ali, Y. Al-GhadeerAhmed

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