Pub Date : 2020-01-01DOI: 10.37421/jmgm.2020.14.458
B. Rita
{"title":"Editorial Note for Journal of Molecular and Genetic Medicine.","authors":"B. Rita","doi":"10.37421/jmgm.2020.14.458","DOIUrl":"https://doi.org/10.37421/jmgm.2020.14.458","url":null,"abstract":"","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"14 1","pages":"1-1"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70054600","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 : 2020-01-01DOI: 10.37421/jmgm.2020.14.450
Tatsi P, Papoulidis I, Timotheou E, Chartomatsidou T, A. M, Zafeiratis O, Najdecki R, Athanasiadis A, Papanikolaou Eg
Preimplantation Genetic Testing (PGT) is a special technique in Assisted Reproduction Field that is applied to avoid a variety of hereditary disorders. This case report presents the first experience with rare X-linked Choroideremia disease (CHM), which leads to total blindness in male members of the family. To achieve a live birth in this case a total of 3 IVF procedures and 3 PGT cycles were performed. The data in our case offer the chance to couples suffering from rare genetic ophthalmo-neurological diseases to have healthy offspring.
{"title":"Live Birth of a Healthy Boy after Preimplantation Genetic Testing for X-Linked Choroideremia Disorder","authors":"Tatsi P, Papoulidis I, Timotheou E, Chartomatsidou T, A. M, Zafeiratis O, Najdecki R, Athanasiadis A, Papanikolaou Eg","doi":"10.37421/jmgm.2020.14.450","DOIUrl":"https://doi.org/10.37421/jmgm.2020.14.450","url":null,"abstract":"Preimplantation Genetic Testing (PGT) is a special technique in Assisted Reproduction Field that is applied to avoid a variety of hereditary disorders. This case report presents the first experience with rare X-linked Choroideremia disease (CHM), which leads to total blindness in male members of the family. To achieve a live birth in this case a total of 3 IVF procedures and 3 PGT cycles were performed. The data in our case offer the chance to couples suffering from rare genetic ophthalmo-neurological diseases to have healthy offspring.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"14 1","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70054513","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 : 2020-01-01DOI: 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
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.
{"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}
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.
{"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}
Pub Date : 2020-01-01DOI: 10.37421/1747-0862.2020.14.463
Wumesh Kc, Kwong Wy, Chau Jcy, Choi Mc, Chung Csk
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.
{"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}
Pub Date : 2020-01-01DOI: 10.37421/1747-0862.2020.14.465
M. Hachem, A. John, Said Hb, A. Salim, S. Zakkir, Alkash As, D. Jimmy
Time since death TSD or Post-Mortem Interval PMI is the estimated time between death and discovery of the cadaver. Estimation of PMI is very challenging in medico-legal investigations for over years. Numerous methods have been proposed to estimate PMI. The aim of the present review was to explore the early changes of body after death named post- mortem changes and the body decomposition after death. Emerging technologies for PMI estimation including the measurement of body temperature, the electrical and mechanical stimulation, the entomology and the post-mortem biochemical changes in body fluids were also discussed. We focused on the biochemical changes related to enzymes and proteins happening after death in the biological fluids and body tissues. Altogether, this review provides better understanding on the emerging technologies in PMI estimation which could be helpful for law enforcement and authorities in the community.
{"title":"Emerging Molecular Approaches for Estimation of PostMortem Interval in Medico-Legal Practice","authors":"M. Hachem, A. John, Said Hb, A. Salim, S. Zakkir, Alkash As, D. Jimmy","doi":"10.37421/1747-0862.2020.14.465","DOIUrl":"https://doi.org/10.37421/1747-0862.2020.14.465","url":null,"abstract":"Time since death TSD or Post-Mortem Interval PMI is the estimated time between death and discovery of the cadaver. Estimation of PMI is very challenging in medico-legal investigations for over years. Numerous methods have been proposed to estimate PMI. The aim of the present review was to explore the early changes of body after death named post- mortem changes and the body decomposition after death. Emerging technologies for PMI estimation including the measurement of body temperature, the electrical and mechanical stimulation, the entomology and the post-mortem biochemical changes in body fluids were also discussed. We focused on the biochemical changes related to enzymes and proteins happening after death in the biological fluids and body tissues. Altogether, this review provides better understanding on the emerging technologies in PMI estimation which could be helpful for law enforcement and authorities in the community.","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":"70041425","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 : 2020-01-01DOI: 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
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.
{"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}
Pub Date : 2020-01-01Epub Date: 2020-07-30DOI: 10.37421/jmgm.2020.14.457
Ajay Gupta, Kamyar Kalantar-Zadeh, Srinivasa T Reddy
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.
{"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":"<p><p>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 D<sub>2</sub> (PGD<sub>2</sub>) and thromboxane A<sub>2</sub>. Furthermore, PGD<sub>2</sub> concentrations in the airways increase with aging. PGD<sub>2</sub> action mediated via DP<sub>2</sub> receptors suppresses both innate and adaptive immune responses, by inhibiting interferon-λ and stimulation of myeloid monocyte-derived suppressor cells respectively. PGD<sub>2</sub> and thromboxane A<sub>2</sub> actions via the TP receptors activate platelets leading to a prothrombotic state. Ramatroban, a small-molecule antagonist of DP<sub>2</sub> 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.</p>","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}
Pub Date : 2020-01-01DOI: 10.37421/JMGM.2020.14.448
Kajal Angras, Lindsay Bailey, Pallvi K. Singh, A. Young, J. Ross
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.
目的:探讨胎儿拷贝数变异(CNV)与超声检测软标记物(USM)的关系。方法:这项经irb批准的回顾性队列研究针对产前或产后进行染色体微阵列分析(CMA)的胎儿或儿童，旨在研究2010年1月至2018年7月在Geisinger分娩的妇女中临床相关CNV(归类为致病性CNV或不确定意义变异(VUS))与USM之间的关系。评估以下超声:脉络膜丛囊肿，颈褶增厚，鼻骨缺失或发育不全，心内灶回声，肠回声，短长骨和尿路扩张。已知非整倍体或单基因疾病的胎儿或儿童被排除在外。报告了CNV和USM之间的比值比(OR)以及相关的95%置信区间(CI)和p值。P值<0.05为显著性。结果:在348例胎儿/儿童中，89例(25.6%)具有临床相关的CNV。具有临床相关CNV的患者和具有正常微阵列分析的患者在人口统计学、分娩和新生儿特征方面的百分比相似。具有临床相关CNV和结构异常的胎儿/儿童间差异无统计学意义(p = 0.52;OR 1.18, 95% CI 0.72-1.92)，存在1例USM (p = 0.72;OR 1.52, 95% CI 0.79-2.92)，或存在一个以上USM (p = 0.79;或1.56,95% ci 0.28-8.72)。结论:我们的数据支持临床相关拷贝数变异与超声检测软标记物之间缺乏关联。有一种或多种USM的胎儿/儿童发生临床相关CNV的几率有统计学上不显著的增加。
{"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}
Pub Date : 2020-01-01DOI: 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
Background: Mitochondrial depletion syndrome (MDS) is phenotypically heterogeneous and may affect either single or multiple organs including muscles, liver, brain, and kidneys. FBXL4-related mitochondrial depletion syndrome of encephalomyopathic type is a severe condition that begins at an early age. It is primarily linked to brain dysfunction combined with muscle weakness. Case presentation: In the present case, a homozygous loss of function variant of FBXL4 (MIM 605654) was identified by whole exome sequencing (WES) in a three-year old Saudi girl who exhibited biochemical, and cerebral magnetic resonance imaging features consistent with mitochondrial DNA depletion syndrome 13, but had different presentations which has not been reported before. Conclusion: MDTP13 (encephalomyopathic type) is caused by biallelic pathogenic variants in FBXL4. There is remarkable variability in genotypeto- phenotype correlation characteristic of this disease.
{"title":"Unusual Presentation of Mitochondrial Depletion Syndrome Related to FBXL4: A Case Report","authors":"J. Al-BualiMajed, R. AlhamadAnwar, J. Al-ObaidJaafer, N. Al-MotawaMossa, A. Al-YaseenMujtaba, Dr. Aleem Ali, Y. Al-GhadeerAhmed","doi":"10.37421/jmgm.2020.14.456","DOIUrl":"https://doi.org/10.37421/jmgm.2020.14.456","url":null,"abstract":"Background: Mitochondrial depletion syndrome (MDS) is phenotypically heterogeneous and may affect either single or multiple organs including muscles, liver, brain, and kidneys. FBXL4-related mitochondrial depletion syndrome of encephalomyopathic type is a severe condition that begins at an early age. It is primarily linked to brain dysfunction combined with muscle weakness. Case presentation: In the present case, a homozygous loss of function variant of FBXL4 (MIM 605654) was identified by whole exome sequencing (WES) in a three-year old Saudi girl who exhibited biochemical, and cerebral magnetic resonance imaging features consistent with mitochondrial DNA depletion syndrome 13, but had different presentations which has not been reported before. Conclusion: MDTP13 (encephalomyopathic type) is caused by biallelic pathogenic variants in FBXL4. There is remarkable variability in genotypeto- phenotype correlation characteristic of this disease.","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":"70054591","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}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：