Background:The aim of this study was to search for associations between polymorphisms of the IRF6, MDR1, and MTHFR genes and the risk of congenital orofacial cleft (OFCs) among the population of the Republic of Sakha (Yakutia). Methods and Results:The sample of the studied individuals consisted of 94 children (46 girls and 48 boys) with OFCs and their parents (75 mothers and 18 fathers). The children with OFCs were divided into 3 groups. Group 1 included 48 children with cleft lip and palate (CLP); Group 2 included 22 children with cleft lip (CL); Group 3 included 24 children with cleft palate (CP). The comparison group included 156 healthy volunteers (118 women and 38 men) who did not have a history of relatives with OFCs. Analysis of the distribution of alleles and genotypes of studied SNPs in children with all OFCs and healthy children showed a significant (P=0.000) difference only in MDR1 genetic variant rs1045642 SNP. The carriage of the TT genotype of the MDR1 rs1045642 SNP was associated with increased risk of OFCs (OR=2.711, 95% CI=1.459-5.037; P=0.000). Analysis of the frequency distribution of alleles and genotypes depending on the severity of clefts showed that the carriage of the TT genotype of the MDR1 rs1045642 SNP was associated with significant risk for development of CL (OR=3.114; 95% CI=1.123-8.634) and CLP (OR=2.804; 95% CI=1.333-5.895). In children with CP, we found significant risk with carriage of the TT genotype of the IRF6 rs2235371 SNP (OR=5.429, 95% CI=1. 135-25.962; P=0.035). Conclusion:A study of four SNPs in the IRF6, MDR1, and MTHFR genes revealed statistically significant increased risks for OFCs in carriers of the TT genotype of the MDR1 rs1045642 SNP; in addition, the carriage of the TT genotype of the IRF6 rs2235371 SNP significantly increased the risk of CP development.
Dental health is one of the most important signs of life quality and depends on the level of health care organization. Recently the clinical odontology is intensively developing, including local anesthesia where constant searching of effective remedies and methods of suppression and treatment of pain is carried out. At the same time carrying out adequate local anesthesia has important practical value that is to some extent bound to massive visits of the patients to the clinics. One of the important factors in the solution of problems of effectiveness and safety of local anesthesia is knowledge of anatomy-topographical features of the structure of maxillofacial area as the irregular technique of local anesthesia which is carried out without features of the anatomical structure of jaws is the main reason for ineffective anesthesia. From the practical side, the special attention is paid to the patients having various accompanying diseases with negative treatment emotions that lead to the stress development, disorganization of work of functional systems of the organism, change of the mental state. However the basis of diagnostic process at dentist's consultation depends on the clinical thinking of the doctor which is bound to knowledge of medical psychology and psychoprophylaxis that needs to be applied in the daily practice. In particular clinical situations premedication methods are successfully used for carrying out adequate anesthesia for dental interventions. A wide range of ways and methods of the lower alveolar nerve blockade are used in dentistry, where the composite external and internal anatomy-topographical markers which are difficult to remember for the doctor are applied. It causes the need of carrying out further researches on the maximal simplification of technological and methodological features of mandibular anesthesia and its introduction into dental practice.
Structure and dynamics of congenital maxillofacial malformation in Yakutiya region i.D. ushNitsKy, l.o. isaKoV, M.M. ViNoKuroV, G.i. osKol'sKy NorthWest Federal university named after М.К. Аmmosov; Far East state Medical university, Khabarovsk Целью исследования стало проведение динамического анализа частоты и структуры врожденных расщелин верхней губы и неба в Республике Саха (Якутия) за последние 13 лет. В исследование, носившее как проспективный, так и ретроспективный характер, были включены 423 ребенка с врожденными пороками развития лица. Динамический анализ показал циклические изменения в распространенности расщелин губы и неба и относительно высокую распространенность данного заболевания в регионе с тенденцией к дальнейшему увеличению. Определена также тенденция к снижению возраста родителей детей с расщелиной губы и неба. Полученные эпидемиологические данные подтверждают необходимость совершенствования протоколов лечения и реабилитации детей с расщелиной губы и неба. Ключевые слова: расщелина губы и неба, пороки развития лица, распространенность и структура врожденных аномалий. The aim of the study was to assess structure and dynamics of congenital facial clefts prevalence in Republic Sokha (Yakutiya) in the last 13 years. Both retrospective and prospective study included 423 children with congenital facial malformations. Dynamic analysis showed cyclical changes in the incidence of cleft lip and palate (CLP) and relatively high regional prevalence of CLP with tendency to increase. The age of parents of children with congenital facial malformations tend to decrease with time. The received epidemiological data prove the need to improve treatment and rehabilitation protocols for CLP patients in Republic Sokha (Yakutiya).
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