16 research outputs found

    Phenotypic spectrum of NRXN1

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    Microbiological Colonisation of Intrauterin Devices Removed Due to Non- pelvic Inflammatory Disease

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    Giriş: Pelvik inflamatuar hastalık (PİH) tanısı almayan hastalarda diğer nedenlerle çıkartılan rahim içi araçlar(RİA)da mikrobiyal kolonizasyonunun incelenmesi Gereç ve Yöntemler: Bülent Ecevit Üniversitesi Kadın Hastalıkları ve Doğum Kliniği’ne başvuran pelvik inflamasyon bulguları olmayan 40 hastadan herhangi bir nedenle çıkarılan RİA’ların kültür incelemesi yapıldı. Bulgular: Düzensiz kanama, ağrı veya servikal yerleşim nedeniyle çıkartılan RİA’ların kültür incelemesinde sadece 5 hastada(%12.5) üreme olmuştur. Sonuç: RiA’nın pelvik inflamasyondaki rolü bilinmektedir. Daha önce yapılan çalışmalarda RİA’ların pelvik inflamatuar hastalık oluşturmadan bakteriyel kolonizasyon oluşturduğuna dair veriler vardır. Fakat bizim çalışmamızda PİH tanısı olmayan hastalarda bakteriyel kolonizasyon saptanmamıştır. Burada PİH oluşumunda diğer risk faktörlerinin (erken yaşta başlayan cinsel ilişki, koit sıklığı, hijyen) önemli olabileceği ve coğrafi bölgesel faklılıklar gösterebileceğini dikkate almak gerekir.Aim: To evaluate microbiological colonisation of intrauterin devices (IUDs) in patients without the diagnosis of pelvic inflammatory disease (PID). Material and Methods: The cultures of IUDs of 40 patients, admitted to Bülent Ecevit University Gynecology and Obstetrics Department and had no pelvic infection signs, were evaluated. Results: The culture results of IUDs removed due to abnormal uterine bleeding, pelvic pain, cervical localisation revealed that only 5(12,5%) of patients had microbiological colonisation. Conclusion: The role of IUDs on pelvic infections has been known. The data in the past studies revealed that IUDs cause bacterial colonisation without pelvic inflammatory disease. However, in our study there was no bacteria colonisation in patients without PID. The other risk factors (early sexual function, frequency of coitus, hygien) and geographical regionvariations should be considered as reasons of PID

    Genetic analyses of the NF1 gene in Turkish neurofibromatosis type I patients and definition of three novel variants

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    Neurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predisposing patients to have benign and/or malignant lesions predominantly of the skin, nervous system and bone. Loss of function mutations or deletions of the NF1 gene is responsible for NF1 disease. Involvement of various pathogenic variants, the size of the gene and presence of pseudogenes makes it difficult to analyze. We aimed to report the results of 2 years of multiplex ligation-dependent probe amplification (MLPA) and next generation sequencing (NGS) for genetic diagnosis of NF1 applied at our genetic diagnosis center. The MLPA, semiconductor sequencing and Sanger sequencing were performed in genomic DNA samples from 24 unrelated patients and their affected family members referred to our center suspected of having NF1. In total, three novel and 12 known pathogenic variants and a whole gene deletion were determined. We suggest that next generation sequencing is a practical tool for genetic analysis of NF1. Deletion/duplication analysis with MLPA may also be helpful for patients clinically diagnosed to carry NF1 but do not have a detectable mutation in NGS

    The efficacy and acceptability of the Triple P: Positive Parenting Program with Turkish parents

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    Aim: To evaluate the effectiveness of Group Teen Triple P with parents who have behaviorally disturbed adolescents. Methods: The research was conducted in an experimental manner. The sample was 76 parents who were grouped as 38 cases and 38 controls with a block randomization method. Data were collected using the Family Background Questionnaire, General Health Questionnaire (GHQ-12), Strengths and Difficulties Questionnaire (SDQ), Conflict Behavior Questionnaire (CBQ), and Parent Satisfaction Questionnaire. Group Teen Triple P Program was implemented with the case group for 8 weeks. Data were collected immediately after the program\ua0and again after 3 months. Data were evaluated using variance analysis, t\ua0test, χ test, multivariate analysis of covariance, and analysis of covariance\ua0test. Results: It was found that participation in Group Teen Triple P resulted in the improvement of parental mental health, decreased problematic behavior of the adolescents, and fewer problems between adolescents and their parents. Conclusion: Group Teen Triple P should be made available to more parents of adolescents in Turkey

    A nationwide study of social-emotional problems in young children in Turkey

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    PubMed ID: 23347970We aimed to assess the prevalence of social-emotional problems of Turkish children in early childhood and to understand their association with various bio-psycho-social risk factors, in order to establish guidelines in planning training programs for parents and professionals. Data from a representative sample of 1507 boys (54.3%) and 1268 girls (45.7%) aged 10-48 months were collected. The primary caregivers (mothers = 91.4%) completed the Brief Infant-Toddler Social and Emotional Assessment (BITSEA), the Brief Symptom Inventory (BSI) and a form designed to gather information about various bio-psycho-social risk factors. Based on the caregiver terms, a total of 1626 children (60.1%) were reported to experience social-emotional problems. However, based on the BITSEA-problem clinical (1.5 SD) cut-off scores, 9.3% (9.1% of boys; 9.5% of girls) of all children were found to experience social-emotional problems. The variables, that showed a significant association with BITSEA-problem scores in pairwise comparisons, were entered in logistic regression analysis to determine the variables that predict the group with scores of above clinical cut-point. Higher total score of BSI of the primary caregiver, being separated from the mother for more than a month, and lower income of the family were found to be significant predictors of social-emotional problems. Caregiver reports highlight that maternal variables of mothers' psychological well-being, education and access to sources of support are closely related to the social-emotional wellbeing of their off-spring. The findings obtained from this study may be used for detection of prioritized domains in terms of management of preventive mental health services. © 2012 Elsevier Inc
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