Genetic Basis of Attention Deficit Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder (ADHD) is one of the most common neuropsychiatric disorders of childhood. Due to studies reporting that the effects of ADHD diagnosis on functioning may last throughout life, this disorder, which has great importance for child and adolescent psychiatry, started to attract greater attention recently in terms of adult psychiatry. A review, evaluating the results of studies conducted on the genetic basis of ADHD, which started to attract increasing attention both in our country and the world, was thought to help clinicians working in this field. PubMed and Turkish Psychiatry Index online search engines were screened using “attention deficit hyperactivity disorder”, “ADHD”, “genetics” as key words. The data obtained were combined with information gleaned from several textbooks. Based on previous studies, it could easily be concluded that ADHD is one of the most common heritable psychiatric disorder with distinguished genetic features. Despite its importance for diagnosis and treatment, the etiology of ADHD is still not clear and the disorder seems to be a complex problem arising from the effects of both genetic and environmental factors. Although previous studies revealed that ADHD displayed familial and hereditary transmission, stable patterns of Mendelian inheritance could not be discriminated by evaluation of pedigrees. Therefore, many studies have been conducted on the molecular genetic basis of ADHD recently. The previous studies did not report consistent results in identification of the genes responsible for ADHD which has been partially linked to heterogeneity of the disorder. Grouping relevant patients according to comorbidities and persistence in adolescence rather than DSM-IV subtypes could be an important alternative method for overcoming this limitation in the research studies

The Role of Kinase Inhibitors in Cancer Therapies

Protein kinases are enzymes that transfer a phosphate group to the threonine, serine, or tyrosine residues of the target protein, regulating its activity. The activity of these enzymes are very important and strictly regulated in the cell as they promote cell proliferation, survival, and migration. In the case of any dysregulation of these enzymes, they can be associated with cancer initiation and progression. Small-molecule kinase inhibitors approved by the FDA for their improved clinical benefits are currently used in targeted therapy for the treatment of various cancers. So far, there are 62 FDA-approved therapeutic agents targeting different protein kinases, eight of which were approved in 2020. Today, kinase inhibitors are used as FDA approved cancer agents and newly developed ones are evaluated in clinical trials. Those protein kinase inhibitors can be grouped as growth factor receptor inhibitors, Ras/Raf/Mek inhibitors, phosphoinositide 3-kinase (PI3K) and cyclin dependent kinase inhibitors, other targets, and agents such as protein kinase c and 3 phosphoinositide-dependent kinase 1. In this chapter, these kinases, their pathways, and their inhibitors will be discussed in detail

Contact Lenses in Iris Recognition

Recent research in iris recognition has established the impact of non-cosmetic soft contact lenses on the recognition performance of iris matchers. Researchers in Notre Dame demonstrated an increase in False Reject Rate (FRR) when an iris without a contact lens was compared against the same iris with a transparent soft contact lens. Detecting the presence of a contact lens in ocular images can, therefore, be beneficial to iris recognition systems. This study proposes a method to automatically detect the presence of non-cosmetic soft contact lenses in ocular images of the eye acquired in the Near Infrared (NIR) spectrum. While cosmetic lenses are more easily discernible, the problem of detecting non-cosmetic lenses is substantially difficult and poses a significant challenge to iris researchers. In this work, the lens boundary is detected by traversing a small annular region in the vicinity of the outer boundary of the segmented iris and locating candidate points corresponding to the lens perimeter. Candidate points are identified by examining intensity profiles in the radial direction within the annular region. The proposed detection method is evaluated on two databases: ICE 2005 and MBGC Iris. In the ICE 2005 database, a correct lens detection rate of 72% is achieved with an overall classification accuracy of 76%. In the MBGC Iris database, a correct lens detection rate of 70% is obtained with an overall classification accuracy of 66:8%. To the best of our knowledge, this is one of the earliest work attempting to detect the presence of non-cosmetic soft contact lenses in NIR ocular images.;The second part of this thesis discusses the concept of dual identity, where a digital iris image hosts two distinct identities. In this regard, we design a method to alter a source iris image based on information from a target iris such that the modified iris retains the identity of both images. The proposed model strategically selects a minimal set of pixels from a target identity\u27s iris pattern, copies it onto a source iris pattern, allowing the user to be able to be recognized both as his true identity and as the target identity. Experimental results based on 9506 pairs of source and target images suggest the efficacy of the scheme in rendering a digital iris capable of hosting two distinct identities. This model can potentially be employed to create patterned contact lenses facilitating dual identity by imprinting sparse patterns on transparent contact lenses

The investigation of the mediating role of coping trategies on the relationship between childhood traumas, depression and alcohol use disorder in university students

The aim of this study is to investigate the mediating effect of coping strategies on the relationship among childhood traumas, depression, and alcohol use disorder in university students. The participants of this study consisted of 735 (209 males and 526 females) university students. Participants completed measures of depressive symptoms, childhood traumas, problematic alcohol consumption, and coping strategies as well as a socio-demographic information form. According to results, coping strategies fully mediated the relationship between childhood traumas and alcohol use disorder, and partially mediated the relationship between childhood traumas and depression

Frequency of Y chromosome microdeletions in Turkish infertile men: Single Center Experience

Objective: Infertility is defined as the failure to achieve a clinical pregnancy after twelve months of regular unprotected sexual intercourse. Both genetic and environmental factors affect infertility. The aim of the study is to establish the frequency of the Y chromosome microdeletions in Turkish infertile men who were referred to our center (2016-2020) with severe oligozoospermia and azoospermia. Methods: A retrospective chart review study on patients who referred to our center between 2016-2020 due to infertility were included in the study. We evaluated microdeletions of the Y-chromosome STS markers AZFa, AZFb and AZFc, ZFX/ZFY, and terminal sY160 regions. Y-chromosome STS markers were evaluated by DNA fragment analysis. Results: The chart review indicated that a total of 319 men applied to our genetic diagnosis center between 2016 and 2020 due to infertility (mean age 32 ±7). Among the 319 infertile men, we determined 21 cases with Y chromosome microdeletions (6.89%), with the most common AZFc deletion (n=11, 52.3%) which is consistent with literature. Conclusion: Y-microdeletions are among the most common genetic causes of male infertility. In azoospermic and oligospermic patients, cytogenetic tests, Y-chromosome microdeletions and NGS panel screening tests can give effective information before the use of assisted reproductive techniques

Investigation of SRP9 protein expression in breast cancer

Background Signal recognition particle (SRP) promotes co-translational translocation of the proteins through or into the endoplasmic reticulum membrane and it also has elongation arrest function. SRP9 is one of the six protein subunits of SRP and functions in elongation arrest activity by forming a heterodimeric structure with SRP14. It is one of the substrates of ADAR, which has been found to have a role in breast cancer. This study was conducted to investigate the SRP9 protein expression in normal and tumor tissues of patients with breast cancer and determine its prognostic significance. Methods and results A total of 32 female patients who were diagnosed as having primary breast cancer and underwent surgery were included in the study. Western Blotting was performed to detect SRP9 protein expression levels in normal and tumor tissue samples. Clinical and pathologic characteristics were analyzed to assess the prognostic significance. SRP9 protein expression was statistically higher in the breast cancer tissue samples compared to normal matched tissue, and the mean SRP9 protein expression levels of breast cancer tissue normal tissue samples were 1.019 +/- 1.011 and 0.551 +/- 0.456, respectively (p = 0.001). SRP9 protein expression levels in tumor tissue of patients with lymph node metastasis, tumor size > 2 cm, estrogen receptor-positive, progesterone receptor-positive, and HER-2 negative were statistically higher than in normal tissue (p < 0.05). Conclusions It is vital to clarify the roles of molecules such as SRP9 in understanding the pathogenesis of breast cancer. In our study, we showed that SRP9 expression increased in breast cancer and was associated with disease-related parameters