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Advanced genome sequencing technologies have provided us with the opportunity to deeply understand the mechanisms underlying conditions associated with the genome. There has been significant interest recently in understanding the characteristics of de novo mutations, which are genetic changes that arise in reproductive cells and are not present in parents, as well as the mechanisms involved in their occurrence. These mutations can be transmitted to subsequent generations and have the potential to influence genetic diversity and susceptibility to diseases, making this topic important. Due to limited studies in this area, the formation mechanisms and characteristic features of such mutations have not yet been fully understood. Background/Aims: In this study, we aimed to conduct a comprehensive analysis of de novo mutations in families undergoing trio clinical exome sequencing analysis. The objectives of the study were to investigate the relationship between parental ages and the frequency of de novo mutations, the distribution, prevalence, relationships, and molecular characteristics of de novo mutations. Methods: A total of 69 families who underwent Trio Clinical Exome Sequencing (CES) analysis at the Department of Medical Genetics, Faculty of Medicine, Selçuk University, between January 1, 2017, and December 31, 2023, were included in the study. DNA samples extracted from peripheral venous blood of individuals were sequenced using the Roche CES kit and DNBSEQ-G400™ sequencing device, and a total of 3892 genes were analyzed using the Seq Platform. Results: After analysis, 407 de novo variants were identified, with the majority being variants of unknown significance (55.28%). When examining the base change profile, the most common changes were found to be C -> G, G -> A, A -> G. The most commonly mutated genes were found to be DSPP, HPS4, VCL, and BMP4 genes. Conclusions: Correlation analysis revealed no significant relationship between parental age and the number of de novo mutations, and regression analysis showed that age was not a significant parameter in determining the number of de novo mutations

Advanced genome sequencing technologies have provided us with the opportunity to deeply understand the mechanisms underlying conditions associated with the genome. There has been significant interest recently in understanding the characteristics of de novo mutations, which are genetic changes that arise in reproductive cells and are not present in parents, as well as the mechanisms involved in their occurrence. These mutations can be transmitted to subsequent generations and have the potential to influence genetic diversity and susceptibility to diseases, making this topic important. Due to limited studies in this area, the formation mechanisms and characteristic features of such mutations have not yet been fully understood. In this study, we aimed to conduct a comprehensive analysis of de novo mutations in families undergoing trio clinical exome sequencing analysis. The objectives of the study were to investigate the relationship between parental ages and the frequency of de novo mutations, the distribution, prevalence, relationships, and molecular characteristics of de novo mutations. A total of 69 families who underwent Trio Clinical Exome Sequencing (CES) analysis at the Department of Medical Genetics, Faculty of Medicine, Selçuk University, between January 1, 2017, and December 31, 2023, were included in the study. DNA samples extracted from peripheral venous blood of individuals were sequenced using the Roche CES kit and DNBSEQ-G400™ sequencing device, and a total of 3892 genes were analyzed using the Seq Platform. Correlation analysis revealed no significant relationship between parental age and the number of de novo mutations, and regression analysis showed that age was not a significant parameter in determining the number of de novo mutations. After analysis, 407 de novo variants were identified, with the majority being variants of unknown significance (55.28%). When examining the base change profile, the most common changes were found to be C -> G, G -> A, A -> G. The most commonly mutated genes were found to be DSPP, HPS4, VCL, and BMP4 genes. [ABSTRACT FROM AUTHOR]

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of SPORMETRE: The Journal of Physical Education & Sport Sciences / Beden Eğitimi ve Spor Bilimleri Dergisi is the property of SPORMETRE: The Journal of Physical Education & Sport Sciences and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The aim of this study is twofold: (1) to identify differences in certain anaerobic parameters (10m sprint, 30m sprint, anaerobic power, and Illinois agility tests) between professional and amateur soccer players, and (2) to determine whether there is a difference in the ACTN3 gene polymorphism between professional and amateur soccer players. Ultimately, the goal is to reveal which parameters contribute to the differentiation in these two aspects. A total of 133 volunteer soccer players, including 71 professionals and 62 amateurs, participated in the research. DNA extraction from buccal epithelial cells was performed using a commercial kit to determine the genetic background of the athletes, and Real-Time PCR was conducted for genotyping. Statistical analysis of the findings obtained from the test results was performed using the SPSS 23 (SPSS Inc., Chicago, IL, USA) package program. The homogeneity of variance of the data was assessed using the Levene Test, and normal distribution analyses were conducted using the Shapiro-Wilk Test. Chi-square and Mann-Whitney U tests were employed for parameter analysis. The significance level was set at p<0.05. Evaluation of the data in our study revealed no statistically significant difference in ACTN3 rs1815739 gene polymorphism between the groups (p>0.05). However, there is a statistically significant difference in anaerobic parameters (10m sprint, 30m sprint, and anaerobic power) except for the Illinois test (p<0.05). In conclusion, our study found that gene polymorphism is not a differentiating factor between professional and amateur soccer players, but speed (10m and 30m) and anaerobic power parameters are differentiating factors. [ABSTRACT FROM AUTHOR]

Background: Worldwide, atrial fibrillation (AF) is the most common arrhytmia in all subtypes of cardiomyopathies (CMP). Genetic testing of CMP genes is a standard aspect of clinical management in affected families. Aim: To determine the association of selected genetic markers of patients with cardiomyopathies and atrial fibrillation in the region of eastern Slovakia. Patients and methods: After signing informed consent, clinical data and a venous blood sample were obtained from all study participants for genetic analysis. After analyzing the genetic results, allele and genotype frequencies were calculated in the patient group and in the control group. Our case-control study was conducted in a group of 85 individuals from the region of eastern Slovakia, of which 43.53% were patients with CMP and AF with an average age of 62.65 ± 11.01 years. The group was dominated by men (64.71%) and there were more frequent patients with dilated CMP and at the same time with persistent AF. Results: Representation of potentially risky alleles associated with AF was higher in the case of rs13143308 and rs2220427 in patients with CMP and AF compared to the control group. The potentially risky T allele of the genetic variant rs3853445 dominated in the control group (73% vs. 68%). After evaluating the allelic and genotypic distributions, an analysis of associations of genetic models of variants rs13143308, rs2220427 and rs3853445 with location in the 4q25 locus in relation to cardiomyopathy associated with AF was carried out. None of these analyses confirmed a significant association of the respective genetic model in relation to CMP associated with AF. The p-value of the odds ratio (OR) calculations was higher than 0.05 in all cases Conclusion: By analyzing the selected genetic markers rs13143308, rs2220427 and rs3853445 located in the 4q25 locus, we failed to statistically confirm their association with cardiomyopathy and related atrial fibrillation. Thus, we can conclude that the basic limitation of our study was the size of the research sample. [ABSTRACT FROM AUTHOR]

Copyright of Zeitschrift für Rheumatologie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Obesity is associated with many chronic diseases that involve genetic and environmental factors and are governed by their complex interactions. Genetics is estimated to play an important role in the predisposition to obesity and may contribute up to 70% risk for the disease. Genetic studies have confirmed that genes are contributory factors for obesity. Anomalies in genes are directly responsible for obesity-related disorders such as Bardet-Biedl and Prader-Willi syndromes. Genetic epidemiological approaches, particularly genome-wide association studies, have identified numerous genes which play important roles in human obesity. In the future, further investigation of obesity genetics may help to develop useful diagnostic and predictive tests for obesity treatment. In this review, information supported by the current literature about the genetics of obesity has been conveyed. [ABSTRACT FROM AUTHOR]

Copyright of Studia Universitatis Babes-Bolyai, Educatio Artis Gymnasticae is the property of Babes-Bolyai University, Cluj-Napoca, Romania and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Arquivos de Ciências da Saúde da UNIPAR is the property of Associacao Paranaense de Ensino e Cultura and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introducción: Los SNP en genes implicados en la absorción, disponibilidad, metabolismo y excreción de componentes bioactivos contribuyen a la variabilidad interindividual de sus mecanismos fisiológicos que pueden intervenir en la salud y enfermedad del paciente. Objetivo: Elaborar una matriz de recomendaciones sobre el consumo de bioactivos dietéticos de potencial interés en el control de la obesidad y sus comorbilidades. Método: El artículo se basó en una búsqueda bibliográfica empleando dos ecuaciones de búsqueda que permitieron identificar criterios relevantes sobre la influencia de los polimorfismos en las recomendaciones dietéticas de componentes bioactivos. Resultados: La búsqueda bibliográfica permitió encontrar 25 interacciones de 8 tipos de bioactivos/extractos con 20 polimorfismos de nucleótido único (SNPs) en 14 genes. Estas interacciones se registraron en una matriz para facilitar la comprensión sobre la influencia de las variantes genéticas en la respuesta a bioactivos en la obesidad. Discusión: Entre las interacciones identificadas, se destaca el papel protector frente a enfermedades cardiovasculares de la quercetina en el genotipo de la apolipoproteína E, la relación de la ingesta de esteroles vegetales, los haplotipos del gen NPC1L1 y la disminución de colesterol LDL así como la respuesta al extracto Bofutsushoan en la disminución de la grasa abdominal. Conclusiones: Aunque los estudios sobre las diferentes interacciones son limitados, la integración del estudio de la expresión génica como parte de la evaluación del estado de nutrición de los pacientes podría ser de utilidad para la personalización de las recomendaciones que se brindan durante la consulta por parte de los profesionales de salud y nutrición.

Background: Mannose-binding lectin (MBL) is a member of innate immunity and acts with MASP (MBL-associated serine protease) to activate the lectin pathway of the complement system. MBL gene polymorphisms are associated with susceptibility to infectious diseases. This study investigated whether MBL2 genotype, serum MBL levels, and serum MASP-2 levels affect the course of SARS-CoV-2 infection. Methods and results: Pediatric patients diagnosed with COVID-19 by positive real-time polymerase chain reaction (PCR) were included in the study. Single nucleotide polymorphisms in the promoter and exon 1 in the MBL2 gene (rs11003125, rs7096206, rs1800450, rs1800451, rs5030737) were identified by a PCR and restriction fragment length polymorphisms analysis. Serum MBL and MASP-2 levels were measured by ELISA. COVID-19 patients were divided into asymptomatic and symptomatic. Variables were compared between these two groups. A total of 100 children were included in the study. The mean age of the patients was 130 ± 67.2 months. Of the patients, 68 (68%) were symptomatic, and 32 (32%) were asymptomatic. The polymorphisms in the − 221nt and − 550nt promoter regions did not differ between groups (p > 0.05). All codon 52 and codon 57 genotypes were determined as wild-type AA. AB genotypes were found 45.6% in symptomatic patients while 23.5% in asymptomatics. Moreover, BB genotype was detected 9.4% in symptomatic and 6.3% in asymptomatic patients (p < 0.001). B allele was more frequent in symptomatic patients (46.3%) compared to asymptomatic patients (10.9%). (p < 0.001). Serum MBL and MASP-2 levels did not differ statistically between the groups (p = 0.295, p = 0.073). Conclusion: These findings suggest that codon 54 polymorphism in the MBL2 gene exon-1 region can be associated with the symptomatic course of COVID-19. [ABSTRACT FROM AUTHOR]

Copyright of Scientific Annals of the 'Al. I. Cuza' University, Iasi. Sociology & Social Work / Analele Stiintifice ale Universitatii 'Al. I. Cuza' Iasi Sociologie si Asistenta Sociala is the property of Alexandru Ioan Cuza University and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Abstract Background Graduate entry nursing programmes provide students with an accelerated pathway to becoming a registered nurse. Motivations for study, together with commonly shared characteristics of students enrolling in such programmes is becoming well documented, however, their experiences of studying for a professional qualification in this manner is less understood. As a means of maintaining the relevance of these fast-tracked programmes in the future, an understanding of graduate entry nursing students’ experiences of academic teaching and clinical placements is imperative. Objective To explore the academic and clinical experiences of students enrolled in the first year of graduate entry nursing programmes in New Zealand and Australia. Methods A qualitative case study approach was taken. Here we report the experiences of nine students enrolled in their first year of a two-year graduate entry nursing programme during 2020. Semi-structured interviews were used for data collection and analysed using Braun and Clarke’s thematic analysis. Findings Three overarching themes were developed—affirmation, reflections on expectations and clinical experiences. Conclusion This study highlights the experiences of first year graduate entry nursing students, with many experiencing affirmation that their altruistic career visions came to fruition. The findings indicate that these graduate-entry nursing students interviewed for this study tended to be flexible and adaptable in their approach to study as a means of meeting the challenges of the programme, all of which are key characteristics for a registered nurse; with personal growth and the development of the self, providing preparation for their second year of study.