Aim of the study: Biliary atresia is an idiopathic, destructive disease that affects both extrahepatic and intrahepatic bile ducts with severe inflammation and manifests as progressive jaundice within the first few months of life. In this study, we aimed to investigate the significance of genetic mutations in the onset of biliary atresia disease. Material and methods: With the approval of the ethics committee and parental consent, blood was taken from patients to obtain their DNA, and the study commenced. In this prospective study, we examined the DNA of 10 patients with no disease other than biliary atresia, and an exome sequence analysis was performed with the new-generation DNA sequencing method. The genetic structure of biliary atresia disease was examined by statistical analysis of the mutations, which were determined according to the reference DNA sequencing. Results: In the exome sequence analysis, the number of mutations detected among the patients changed significantly; the lowest number was 12,591, and the maximum was 19,863. By examining these mutations, we identified the mutated genes that were common to all patients. Conclusions: In this study, the highest mutation rates were detected in the PRIM2 and MAP2K3 genes. These genes have not previously been associated with biliary atresia.

Aim: The aim of the study is to examine the relationship between autism spectrum disorder and physical activity in depth. Findings: Autism was first defined by Bleuler, but the history of autism as a term began with the founding of the first pediatric psychiatry clinic by Kanner. Later, autism was defined and revised in the Diagnostic and Statistical Manual of Mental Disorders of the American Psychiatric Association (APA) in various periods before currently being expressed by criteria, ratings, and classifications. In 2013, the term autism spectrum disorder (ASD) began to be used. According to data from the Centers for Disease Control and Prevention, ASD is a continuously increasing situation with the incidence of 1 in 54 children according to 2020 data. The increasing incidence and difficulties experienced in many areas by individuals with ASD like deficiencies ​Extended English summary is in the end of Full Text PDF (TURKISH) file.   Özet Amaç: Araştırmanın amacı, otizm spectrum bozukluğu ve fiziksel aktivite ilişkisini derinlemesine incelemektir. Bulgular: İlk defa Beuler tarafından tanımlanan otizm teriminin; Kanner’in çocuk psikiyatri kliniğini kurması ile birlikte tarihsel süreç içerisinde kullanılmaya başlandığı görülmektedir. Sonraki süreçlerde otizm özellikle Amerikan Psikiyatri Birliği Ruhsal Bozuklukların Tanısal ve İstatistiksel El Kitabında (APA) çeşitli dönemlerde tanımlanmış ve çeşitli revizyonlar yapılarak günümüze gelen kriterleri, dercelendirmeleri, sınıflandırmaları ile ifade edildiği görülmektedir. 2013 yılında otizm spektrum bozukluğu (OSB) olarak kullanılmaya başlanmıştır. Hastalık Kontrol Önleme Merkezi’nin verileri kapsamında OSB, 2020 verilere göre 54 çocukta 1 olarak görülme sıklığı sürekli artan bir durum olarak karşımıza çıkmaktadır. Sıklığının artması ve OSB’li bireylerde yaşanan çeşitli, sözel ya da sözel olmayan iletişim davranışlarında eksiklikler, kalıplaşmış ya da kısıtlayıcı motor hareketler gibi birçok alandaki aksaklıklar bireylerin yaşamlarını olumsuz yönde etkilemekte ve fiziksel aktiviteye katılımlarında ise birer engel olarak karşımıza çıkmaktadır. OSB’li bireylerin her açıdan daha sağlıklı birer birey olmalarında fiziksel aktivitenin önemli bir etkisi bulunmaktadır. Sonuç: Tüm bireyler için katılımı önemli olan fiziksel aktivite, OSB’li bireylerin motor becerilerinden, psikolojik, sosyal ve aile yaşantısına kadar etki eden pek çok alanda önemli katkılar sağlamaktadır. Bu olumlu etkiler özellikle OSB’li bireylerin yaşam kalitesine önemli ölçüde etki etmektedir.

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Introduction: The COVID-19 pandemic rapidly spread throughout the whole world and negatively affected individuals’ participation in physical activity. In this context, the purpose of the research is to investigate the effects of the COVID-19 pandemic on the participation in physical activity of individuals with Autism Spectrum Disorder (ASD) from the perspective of their parents.Method: Ten parents (6 mothers and 4 fathers) with children diagnosed with ASD constituted the sample group for the research designed by the phenomenological qualitative research method. A semi-structured interview form and a personal information form were used as data collection tools. The data analysis was performed using the content analysis method.Findings: In the direction of the findings obtained from the research, four inclusive themes were determined. These are a) the effects of the pandemic on life; b) the difficulties encountered during the period of the pandemic; c) the necessity of physical activity; and d) the changing events. Under these themes, there are 12 sub-themes in total.Discussion: The parents expressed that the practices performed for the sake of decreasing the propagation rate of the virus had negatively affected especially the education, parent relationships, and active lifestyles of children with ASD. According to the parents, the physical activity habits of children with ASD significantly changed, and usually, home-based events were performed during the restrictions. The parents specified that they had understood how extremely important the participation in physical activity of children with ASD was during the period of the pandemic.

Introduction:Patients with alcohol use disorder (AUD) use immature defense styles, and AUD is related with adult attention-deficit hyperactivity disorder (ADHD). Harm avoidance (HA) is related with both AUD and particularly inattentiveness (IN) dimension of ADHD.Aim:The aim of the present study was to evaluate the relationship of defense styles with probable ADHD and severity of ADHD symptoms while controlling the effect of HA among male inpatients with AUD.Settings and Design:The present study with cross-sectional design was conducted at the Alcohol and Drug Research, Treatment and Training Center (AMATEM) of Bakirkoy Training and Research Hospital for Psychiatry Neurology and Neurosurgery in Istanbul.Statistical Analysis:Chi-square test, independent samples t-test, multiple logistic and linear regression analyses, and multivariate analysis of covariance (MANCOVA) were used.Materials and Methods:Participants (n = 151) were evaluated with the Adult ADHD Self-Report Scale, the Defense Style Questionnaire, and the HA Dimension of the Temperament and Character Inventory.Results:HA (particularly HA-1 [anticipatory worry and pessimism]) and immature defense style (particularly acting out) predicted the presence of probable ADHD. In linear regression analysis, HA (particularly HA-1 and HA-4 [fatigability and asthenia]), high immature (particularly acting out), and low mature defense styles predicted the severity of ADHD symptoms. In MANCOVA, immature defense style predicted both the IN and the hyperactivity/impulsivity (HI) dimensions of ADHD, whereas HA and IN dimension and low mature defense style predicted HI dimension.Conclusions:These findings suggest that immature defense style (i.e., acting out) is related with both the presence of probable ADHD and severity of ADHD symptoms, together with HA, which must be taken into account while treating patients with ADHD among male populations with AUD.