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SM ISO690:2012 TIHAI, Olga, SPRINCEAN, Mariana, BARBOVA, Natalia, REVENCO, Ninel, HADJIU, Svetlana. Identification of genes involved in folic acid synthesis in mothers of children with congenital cerebral malformations. In: Revista de Ştiinţe ale Sănătăţii din Moldova, 2022, nr. 3 An.1(29), p. 391. ISSN 2345-1467. |
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Revista de Ştiinţe ale Sănătăţii din Moldova | ||||||
Numărul 3 An.1(29) / 2022 / ISSN 2345-1467 | ||||||
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Pag. 391-391 | ||||||
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Background. In the Republic of Moldova, according to the National Register of Congenital Malformations (CM) in newborns in 2011-2020, the incidence of congenital cerebral malformations (CCM) was 1.92 per 1000 newborns, accounting for 11% of all birth defects. Objective of the study. To assess the genetic polymorphism of certain genes involved in the synthesis of folic acid (folate cycle genes MTHFR677; MTHFR1298; MTR2756; MTRR66) in mothers of children with folate-dependent MCC, to prevent these pathologies in offspring. Material and methods. The target group was identified - 150 children up to 1 year of age with a confirmed MCC diagnosis. A number of 65 mothers of children with MCC were investigated by the molecular-genetic PCR method to detect 4 polymorphisms of the folate cycle gene. The statistical processing of the data obtained in the study was performed by the Quanto program. Results. By the method of clinical-genetic examination, later by the interpretation of the molecular-genetic results, 21 cases of folate-dependent MCC with heterozygous status were diagnosed, and in 44 cases - with homozygous status. It was found that the most common folate-dependent MCC diagnosed was hydrocephalus - 41 cases (43.4%), followed by anencephaly - 3 cases (4.7%), with the prevalence of mothers with homozygous status. Among the non-folate dependent MCCs, the most common were: isolated spina bifida - 6 cases (9.4%), microcephaly - 7 (10.9%), agenesis of the corpus callosum isolated - 8 cases (12.2%), mothers with heterozygous status prevailed. Conclusions. Insufficiency of folic acid in association with genetic causes leads to the appearance of folate-dependent MCC in children. In this regard, it is essential to identify predisposing factors at increased risk for the development of folate-dependent MCC. |
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Cuvinte-cheie congenital cerebral malformations, Genes, children, malformații congenitale cerebrale, gene, copii |
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<?xml version='1.0' encoding='utf-8'?> <resource xmlns:xsi='http://www.w3.org/2001/XMLSchema-instance' xmlns='http://datacite.org/schema/kernel-3' xsi:schemaLocation='http://datacite.org/schema/kernel-3 http://schema.datacite.org/meta/kernel-3/metadata.xsd'> <creators> <creator> <creatorName>Tihai, O.</creatorName> <affiliation>Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“, Moldova, Republica</affiliation> </creator> <creator> <creatorName>Sprincean, M.L.</creatorName> <affiliation>Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“, Moldova, Republica</affiliation> </creator> <creator> <creatorName>Barbova, N.I.</creatorName> <affiliation>IMSP Institutul Mamei şi Copiluluii, Moldova, Republica</affiliation> </creator> <creator> <creatorName>Revenco, N.E.</creatorName> <affiliation>Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“, Moldova, Republica</affiliation> </creator> <creator> <creatorName>Hadjiu, S.A.</creatorName> <affiliation>Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“, Moldova, Republica</affiliation> </creator> </creators> <titles> <title xml:lang='en,ro'>Identification of genes involved in folic acid synthesis in mothers of children with congenital cerebral malformations</title> </titles> <publisher>Instrumentul Bibliometric National</publisher> <publicationYear>2022</publicationYear> <relatedIdentifier relatedIdentifierType='ISSN' relationType='IsPartOf'>2345-1467</relatedIdentifier> <subjects> <subject>congenital cerebral malformations</subject> <subject>Genes</subject> <subject>children</subject> <subject>malformații congenitale cerebrale</subject> <subject>gene</subject> <subject>copii</subject> </subjects> <dates> <date dateType='Issued'>2022-10-21</date> </dates> <resourceType resourceTypeGeneral='Text'>Journal article</resourceType> <descriptions> <description xml:lang='en' descriptionType='Abstract'><p>Background. In the Republic of Moldova, according to the National Register of Congenital Malformations (CM) in newborns in 2011-2020, the incidence of congenital cerebral malformations (CCM) was 1.92 per 1000 newborns, accounting for 11% of all birth defects. Objective of the study. To assess the genetic polymorphism of certain genes involved in the synthesis of folic acid (folate cycle genes MTHFR677; MTHFR1298; MTR2756; MTRR66) in mothers of children with folate-dependent MCC, to prevent these pathologies in offspring. Material and methods. The target group was identified - 150 children up to 1 year of age with a confirmed MCC diagnosis. A number of 65 mothers of children with MCC were investigated by the molecular-genetic PCR method to detect 4 polymorphisms of the folate cycle gene. The statistical processing of the data obtained in the study was performed by the Quanto program. Results. By the method of clinical-genetic examination, later by the interpretation of the molecular-genetic results, 21 cases of folate-dependent MCC with heterozygous status were diagnosed, and in 44 cases - with homozygous status. It was found that the most common folate-dependent MCC diagnosed was hydrocephalus - 41 cases (43.4%), followed by anencephaly - 3 cases (4.7%), with the prevalence of mothers with homozygous status. Among the non-folate dependent MCCs, the most common were: isolated spina bifida - 6 cases (9.4%), microcephaly - 7 (10.9%), agenesis of the corpus callosum isolated - 8 cases (12.2%), mothers with heterozygous status prevailed. Conclusions. Insufficiency of folic acid in association with genetic causes leads to the appearance of folate-dependent MCC in children. In this regard, it is essential to identify predisposing factors at increased risk for the development of folate-dependent MCC.</p></description> <description xml:lang='ro' descriptionType='Abstract'><p>Introducere. Potrivit datelor Registrului Național din Republica Moldova incidența malformațiilor congenitale cerebrale (MCC) pe perioada 2011-2020 a fost de 1,92 la 1000 de nou-născuți, constituind 11% din toate anomaliile congenitale. Scopul lucrării. Aprecierea polimorfismului genetic al anumitor gene implicate în sintetizarea acidului folic (genelor ciclului folaților MTHFR677; MTHFR1298; MTR2756; MTRR66) la mamele copiilor cu MCC folat-dependente, pentru prevenirea acestor patologii la descendenți. Material și metode. A fost identificat grupul-țintă – 150 copii cu vârsta până la 1 an cu diagnosticul confirmat de MCC. Un număr de 65 de mame ale copiilor cu MCC au fost investigate prin metoda molecular-genetică PCR pentru depistarea a 4 polimorfisme a genei ciclului folaților. Prelucrarea statistică a datelor obținute în studiul realizat a fost efectuată prin program Quanto. Rezultate. Prin metoda de examinare clinico-genetică, ulterior prin interpretarea rezultatelor molecular-genetice, au fost diagnosticate 21 cazuri de MCC folat-dependente cu statut heterozigot, iar în 44 cazuri – cu statut homozigot. S-a constatat că cea mai frecventă MCC folatdependentă diagnosticată a fost hidrocefalia – 41 cazuri (43.4%), urmată de anencefalie – 3 de cazuri (4.7%), cu prevalența mamelor cu statut homozigot. Printre MCC non-folat dependente, cele mai frecvente au fost: spina bifida izolată – 6 cazuri (9.4%), microcefalia – 7 (10.9%), agenezia corpului calos izolat – 8 cazuri (12.2%), au prevalat mamele cu statut heterozigot. Concluzii. Insuficiența de acid folic în asociere cu cauzele genetice duce la apariția MCC folat-dependente la copii. În acest sens, este esențial identificarea factorilor predispozanți cu risc sporit pentru dezvoltarea MCC folat-dependente.</p></description> </descriptions> <formats> <format>application/pdf</format> </formats> </resource>