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Copyright of Journal of Academic Social Science Studies is the property of Journal of Academic Social Science Studies 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.)

Objective: The aim of this study is to evaluate the effects and outcomes of the hybrid education model, which became widespread during the pandemic period, on medical students with attention-deficit/hyperactivity disorder (ADHD) symptoms. Methods: A thorough sociodemographic data form and the Adult ADHD Self-Report Scale (ASRS) were distributed to 531 medical students for this cross-sectional study. The students were contacted via online platforms and offered to complete the form using a Google Forms survey application. Results: It was shown that the individuals in the group with probable ADHD were less motivated outside of the university (P=.002), experienced greater difficulty focusing and paying attention (P < .001), and spent more time in front of screens outside of the classroom (P=.001). Similarly, negative affect scores related to eating habits were higher in the group with probable ADHD (P=.005). Moreover, physical complaints were found to be more frequent in the probable ADHD group (P=<.001). Conclusion: The findings of the present study corroborate the strong negative correlation that existed during the COVID-19 pandemic between ADHD symptoms and satisfaction with the educational system. Low motivation, concentration problems, poor eating habits, physical complaints, and more screen time have all been linked to symptoms of ADHD. [ABSTRACT FROM AUTHOR]

Introduction: Genetic factors play an important role in the etiopathogenesis of autism spectrum disorder (ASD). The Pogo Transposable Element with ZNF Domain protein (POGZ) gene (MIM*614787) has been reported to be one of the most frequently mutated genes associated with ASD. This study aims to analyze the exonic regions of the POGZ gene in individuals diagnosed with non-syndromic ASD. Methods: Fifty-one non-syndromic cases diagnosed with ASD according to the DSM-V diagnostic criteria, aged 2-18 years, were included in the study. The healthy control group consisted of 50 children of similar age groups without neurodevelopmental problems. Amplicons produced using deep intronic primers covering the mRNA-encoded regions of the POGZ gene from at least 50 base pairs were sequenced by Next Generation Sequencing Analysis. Results: No pathogenic or likely pathogenic variants reported in open-access databases (ClinVar, HGMD, etc.) were detected in the case group. In the ASD and healthy control groups, rs113396244, rs11204811, rs779479223, rs772352054, rs3831142, rs112072925, rs227453 and rs142860188 variants were determined. The rs3831142, rs112072925, rs2274535, rs142860188 variants were found statistically significant in the ASD group. The distribution of the cases with detected single nucleotide polymorphisms (SNPs) according to gender was not statistically significant. Conclusion: The variants identified as statistically significant within the patient group are situated in regions that encompass both the HP1-ZNF and DDE domains of the protein. Given the crucial role that the DDE domain plays, particularly in fetal brain development and neurogenesis, these four variants may potentially possess modifying and/or predisposing effects in the context of ASD. [ABSTRACT FROM AUTHOR]

Molecular mechanisms governing the development of the mammalian cochlea, the hearing organ, remain largely unknown. Through genome sequencing in 3 subjects from 2 families with nonsyndromic cochlear aplasia, we identified homozygous 221-kb and 338-kb deletions in a noncoding region on chromosome 8 with an approximately 200-kb overlapping section. Genomic location of the overlapping deleted region started from approximately 350 kb downstream of GDF6, which codes for growth and differentiation factor 6. Otic lineage cells differentiated from induced pluripotent stem cells derived from an affected individual showed reduced expression of GDF6 compared with control cells. Knockout of Gdf6 in a mouse model resulted in cochlear aplasia, closely resembling the human phenotype. We conclude that GDF6 plays a necessary role in early cochlear development controlled by c/s-regulatory elements located within an approximately 500-kb region of the genome in humans and that its disruption leads to deafness due to cochlear aplasia., Introduction The inner ear is a complex organ that arises through a series of morphogenetic events from a simple embryologie structure, the otocyst. It consists of a dorsal vestibular system [...]

Objectives: Male infertility is a large and unexplored global health problem in terms of prevalence. Chromosomal polymorphisms may be associated with infertility and recurrent spontaneous abortions. Nonprotein coding and frequently repetitive satellite DNA sequences are found in these regions. Methods: This study aims to present a genetic laboratory experience in the evaluation of frequency, type and significance of Y chromosome polymorphism of Turkish patients with reproductive system problems. The study included 435 patients aged 18-60 years with a documented clinical diagnosis of infertility. Results: In our study, 435 individuals were analyzed cytogenetically and 75 of them (17.24%) were found to carry chromosomally polymorphic variants in Y chromosome. We detected increased heterochromatin structure in the long arm of chromosome Y (Yqh+) as a common variant in our patient group. The frequency of chromosomal polymorphism Yqh-is % 11.26. The rate of chromosomal polymorphism we detected is close to those reported in the literature (10-15%) and statistically significant (p < 0.001), twice that found in the normal population (2-5%). Conclusions: Findings support that Y chromosome polymorphisms may be associated with infertility risk and may play an important role in the development of infertility. More research combining genome studies and other fields is needed to clarify the relationship of Y chromosome polymorphisms with and to infertility. [ABSTRACT FROM AUTHOR]

Copyright of Medical Journal of Bakirkoy is the property of Galenos Yayinevi Tic. LTD. STI 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.)

Objectives: Acute lymphoblastic leukemia (ALL) is the most common malignancy in children with distinctive features across its different subtypes. Although the etiology of ALL has not been fully elucidated, it has been shown that the onset of ALL is partly due to genetic factors. Genes related to drug transport, metabolism, detoxification and DNA repair could influence the cytotoxic effects associated with chemotherapy, including those involved in the transport (e.g., ABCB1, ABCC2, MTHFR and SLCO1B3), and transporter of folate (SLC19A1) of MTX and 6-MP. Likewise, genes involved in DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding (NR3C1) and DNA repair (TYMS) have previously been linked with cytotoxicity of 6-MP and/or MTX. Methods: In the current study, we therefore aimed to assess prior associations for 17 selected genetic variants in 5 genes, in a large cohort of 41 ALL patients treated with mercaptopurine (6-MP) and methotrexate (MTX) combination therapy or mono-therapy of whom detailed clinical toxicity datas were available. Results: Among the 17 variants in 5 genes evaluated according to the results of our study, the polymorphisms in rs2893881 (G/A) in ARID5B were closely related to therapy toxicity. To our knowledge, the effect of ARID5B variants on childhood ALL has not been studied in Turkey. Several genome-wide and candidate gene association studies have reported strong associations between ARID5B SNPs and risk of ALL and toxicity to therapeutic drugs in different populations. Conclusion: Finally, one of the most significant findings from this study is that ARID5B germline SNPs related to ALL treatment toxicity. To our knowledge, this is the first report to describe the relationship between ARID5B and ALL treatment response in the context of a preliminary ALL clinical trial. Further investigation of ARID5B variation in line with different ALL treatment regimens is required to improve its value as a prognostic marker. [ABSTRACT FROM AUTHOR]

Copyright of Osmangazi Journal of Medicine / Osmangazi Tip Dergisi is the property of Eskisehir Osmangazi 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.)