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https://www.readbyqxmd.com/read/28813618/whole-exome-sequencing-identifies-novel-variants-for-tooth-agenesis
#1
N Dinckan, R Du, L E Petty, Z Coban-Akdemir, S N Jhangiani, I Paine, E H Baugh, A P Erdem, H Kayserili, H Doddapaneni, J Hu, D M Muzny, E Boerwinkle, R A Gibbs, J R Lupski, Z O Uyguner, J E Below, A Letra
Tooth agenesis is a common craniofacial abnormality in humans and represents failure to develop 1 or more permanent teeth. Tooth agenesis is complex, and variations in about a dozen genes have been reported as contributing to the etiology. Here, we combined whole-exome sequencing, array-based genotyping, and linkage analysis to identify putative pathogenic variants in candidate disease genes for tooth agenesis in 10 multiplex Turkish families. Novel homozygous and heterozygous variants in LRP6, DKK1, LAMA3, and COL17A1 genes, as well as known variants in WNT10A, were identified as likely pathogenic in isolated tooth agenesis...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28811393/analysis-of-geographical-variations-in-the-epidemiology-and-management-of-non-valvular-atrial-fibrillation-results-from-the-ramses-registry
#2
Volkan Doğan, Özcan Başaran, Murat Biteker, Fatma Özpamuk Karadeniz, Ahmet İlker Tekkesin, Yasin Çakıllı, Ceyhan Türkkan, Mehmet Hamidi, Vahit Demir, Mustafa Ozan Gürsoy, Müjgan Tek Öztürk, Gökhan Aksan, Sabri Seyis, Mehmet Ballı, Mehmet Hayri Alıcı, Serdar Bozyel, Cevat Kırma
OBJECTIVE: This study aimed to determine the differences in terms of demographic characteristics and preferred stroke prevention strategies for patients with non-valvular atrial fibrillation living in seven geographical regions of Turkey. METHODS: In total, 6273 patients were enrolled to this prospective, observational RAMSES study. The patients were divided into seven groups based on the geographical region of residence. RESULTS: In terms of the geographical distribution of the overall Turkish population, the highest number of patients were enrolled from Marmara (1677, 26...
August 11, 2017: Anatolian Journal of Cardiology
https://www.readbyqxmd.com/read/28809754/associations-of-built-environment-and-children-s-physical-activity-a-narrative-review
#3
Houshmand E Masoumi
PROBLEM: Childhood obesity has been an epidemic particularly in high-income countries. There is a considerable volume of data and studies depicting the rising number of obese children and adolescents in different countries. As suggested by the literature, physical inactivity is one the main drivers of childhood obesity. This paper addresses the associations of the built environment with physical activity of children in order to find to theoretically facilitate intervention and prevention measures...
August 15, 2017: Reviews on Environmental Health
https://www.readbyqxmd.com/read/28808920/prospective-turkish-cohort-study-to-investigate-the-frequency-of-niemann-pick-disease-type-c-mutations-in-consanguineous-families-with-at-least-one-homozygous-family-member
#4
Meral Topçu, Dilek Aktas, Merih Öztoprak, Neslihan Önenli Mungan, Aysel Yuce, Mehmet Alikasifoglu
BACKGROUND: Niemann-Pick disease Type C (NP-C) is a rare, autosomal recessive lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes. Diagnosis of NP-C can be challenging and is frequently delayed. Identifying mutations in individuals with NP-C and their relatives enables genetic counseling and prenatal diagnosis and may support earlier diagnosis. Here we report findings from a prospective cohort study in Turkey, using targeted genetic screening of the families of NP-C probands with homozygous NPC1 or NPC2 mutations...
August 14, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28808489/what-should-be-the-appropriate-minimal-duration-for-patient-examination-and-evaluation-in-pulmonary-outpatient-clinics
#5
Benan Musellim, Sermin Borekci, Gulfidan Uzan, Zafer Hasan Ali Sak, Secil Kepil Ozdemir, Goksel Altinisik, Sinem Agca Altunbey, Nazan Sen, Oguz Kilinc, Arzu Yorgancioglu
INTRODUCTION: Patient examinations performed in a limited time period may lead to impairment in patient and physician relationship, defective and erroneous diagnosis, inappropriate prescriptions, less common use of preventive medicine practices, poor patient satisfaction, and increased violent acts against health-care staff. OBJECTIVE: This study aimed to determine the appropriate minimal duration of patient examination in the pulmonary practice. METHODS: A total of 49 researchers from ten different study groups of the Turkish Thoracic Society participated in the study...
July 2017: Annals of Thoracic Medicine
https://www.readbyqxmd.com/read/28807698/-cross-cultural-adaptation-and-psychometric-evaluation-of-the-turkish-version-of-the-cancer-behavior-inventory-brief-version
#6
Emine Iyigun, Sevinc Tastan, Elif Gezginci, Serap Korkmaz, Selcuk Demiral, Murat Beyzadeoglu
CONTEXT: Cancer Behavior Inventory-Brief Version is a simple and non-burdensome tool used to evaluate the self-efficacy of the cancer patients. OBJECTIVES: The aim of this study was to examine the psychometric properties of the Turkish version of the Cancer Behavior Inventory-Brief Version. METHODS: This methodological study was conducted on 143 cancer patients who received radiotherapy at the Department of Radiation Oncology at a Training and Research Hospital in Turkey...
August 11, 2017: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/28804586/health-related-quality-of-life-and-associated-factors-among-undergraduate-university-students
#7
Naim Nur, Ahmet Kıbık, Esma Kılıç, Haldun Sümer
OBJECTIVES: The aims of this study were to explore factors associated with health-related quality of life (HRQOL) among students of Cumhuriyet University, Turkey. METHODS: This cross-sectional study involved 1751 undergraduate students. HRQOL was measured using the Turkish version of 36-Item Short Form Health Survey questionnaire. We looked at the effect of sociodemographic characteristics (e.g., gender, age, drinking, and smoking) on the individual HRQOL domains...
July 2017: Oman Medical Journal
https://www.readbyqxmd.com/read/28802371/how-can-we-improve-medical-adherence-to-intranasal-corticosteroids-in-children
#8
Emre Ocak, Deniz Kocaoz, Baran Acar
OBJECTIVE: To evaluate the factors which may be related to nonadherence to intranasal corticosteroids (ICS) in the treatment of allergic rhinitis (AR) in children. METHODS: A prospective study was conducted on children with AR diagnosis in a tertiary referral hospital. All participants were provided with mometasone furoate nasal sprays for 30 days after the diagnosis. Caregivers were called back when the therapy was over and completed a questionnaire about the factors that may influence the adherence to the treatment...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28801401/satisfaction-with-rehabilitative-health-care-services-among-german-and-non-german-nationals-residing-in-germany-a-cross-sectional-study
#9
Patrick Brzoska, Odile Sauzet, Yüce Yilmaz-Aslan, Teresia Widera, Oliver Razum
OBJECTIVES: Rehabilitation following medical conditions is largely offered as in-patient service in Germany. Foreign-national residents use rehabilitative services less often than Germans and attain less favourable treatment outcomes. These differences are independent of demographic, socioeconomic and health characteristics. Satisfaction with different aspects of rehabilitative care presumably affects the effectiveness of rehabilitative services. We compared the degree of satisfaction with different domains of the rehabilitative care process between Germans and non-German nationals residing in Germany...
August 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28800290/factor-structure-and-psychometric-properties-of-the-italian-version-of-the-homosexuality-scale-of-the-trueblood-sexual-attitudes-questionnaire
#10
Emanuele Fino, Marta Giuliani, Luca Pierleoni, Gaetano Gambino, Valentina Cosmi, Chiara Simonelli
The aim of the present study was to translate the Homosexuality scale of the Trueblood Sexual Attitudes Questionnaire in Italian language, and assess its factor structure and psychometric properties in Italian psychology students. The questionnaire was originally developed and validated in U.S. college students, and later in Turkish social work students, showing high internal consistency. It measures attitudes towards several sexual practices and behaviours, regarding self and others. Particularly, the Homosexuality scale measures attitudes towards different sexual and romantic practices with people of the same sex...
August 11, 2017: Journal of Homosexuality
https://www.readbyqxmd.com/read/28798554/development-and-validation-of-videogame-addiction-scale-for-children-vasc
#11
Eyüp Yılmaz, Mark D Griffiths, Adnan Kan
The aim of the present study was to develop a valid and reliable Videogame Addiction Scale for Children (VASC). The data were derived from 780 children who completed the Videogame Addiction Scale (405 girls and 375 boys; 48.1% ranging in age from 9 to 12 years). The sample was randomly split into two different sub-samples (sample 1, n = 400; sample 2, n = 380). Sample 1 was used to perform exploratory factor analysis (EFA) to define the factorial structure of VASC. As a result of EFA, a four-factor structure comprising 21 items was obtained and explained 55% of the total variance (the four factors being "self-control," "reward/reinforcement," "problems," and "involvement")...
2017: International Journal of Mental Health and Addiction
https://www.readbyqxmd.com/read/28794635/electrophysiological-findings-of-turkish-patients-with-restless-legs-syndrome
#12
Ahmet Özsimsek, Hasan Rifat Koyuncuoglu
We aimed to investigate changes in electrophysiological findings in Turkish patients with restless legs syndrome (RLS), including F-wave latency (FWL), peripheral silent period (PSP), and Hoffmann reflex. The study took place in a university hospital in Turkey and involved 30 newly diagnosed RLS patients and 30 healthy controls who were matched for age and gender. Participant's demographics (age, gender, weight, and height), laboratory findings, and electrophysiological test outcomes were gathered and analyzed...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28794565/superimposed-segmental-manifestation-of-juvenile-amyopathic-dermatomyositis-in-a-9-year-old-boy
#13
Isil Bulur, Hilal Kaya Erdogan, Zeynep Nurhan Saracoglu, Rudolf Happle, Funda Canaz
Dermatomyositis is a well-known autoimmune disorder. On the other hand, juvenile amyopathic dermatomyositis (JADM) occurs rather rarely. Here, we report an unusual case in a 9-year-old Turkish boy showing a unilateral linear inflammatory skin lesion that was followed, after 16 months, by the appearance of bilateral disseminated features JADM.
July 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28793998/the-clinical-and-mutational-spectrum-of-turkish-patients-with-cystinosis
#14
Rezan Topaloglu, Bora Gulhan, Mihriban İnözü, Nur Canpolat, Alev Yilmaz, Aytül Noyan, İsmail Dursun, İbrahim Gökçe, Metin Kaya Gürgöze, Nurver Akinci, Esra Baskin, Erkin Serdaroğlu, Beltinge Demircioğlu Kiliç, Selçuk Yüksel, Duygu Övünç Hacihamdioğlu, Emine Korkmaz, Mutlu Hayran, Fatih Ozaltin
BACKGROUND AND OBJECTIVES: Infantile nephropathic cystinosis is a severe disease that occurs due to mutations in the cystinosis gene, and it is characterized by progressive dysfunction of multiple organs; >100 cystinosis gene mutations have been identified in multiple populations. Our study aimed to identify the clinical characteristics and spectrum of cystinosis gene mutations in Turkish pediatric patients with cystinosis. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We identified the clinical characteristics and spectrum of cystinosis gene mutations in Turkish patients with cystinosis in a multicenter registry that was established for data collection...
August 9, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28793828/the-predictive-factors-for-perceived-social-support-among-cancer-patients-and-caregiver-burden-of-their-family-caregivers-in-turkish-population
#15
Basak Oven Ustaalioglu, Ezgi Acar, Mecit Caliskan
OBJECTIVES: We aimed to identify the predictive factors for the perceived family social support among cancer patients and caregiver burden of their family caregivers. METHODS: Participants were 302 cancer patients and their family caregivers. Family social support scale was used for cancer patients, burden interview was used for family caregivers.All subjects also completed Beck depression invantery. The related socio-demographical factors with perceived social support (PSS) and caregiver burden were evaluated by correlation analysis...
August 9, 2017: International Journal of Psychiatry in Clinical Practice
https://www.readbyqxmd.com/read/28791984/odontogenic-and-nonodontogenic-cysts-an-analysis-of-526-cases-in-turkey
#16
A Kilinc, B Gundogdu, N Saruhan, E Yalcin, U Ertas, G Urvasizoglu
PURPOSE: The aim of this study was to determine the age, gender, and sites of different types of odontogenic cysts (OCs) and non-OCs (nOCs) (seen in eastern Anatolian population in Turkey. MATERIALS AND METHODS: The following data were collected from the clinical records and histopathology reports of the Department of Oral and Maxillofacial Surgery and the Department of Oral Pathology, Ataturk University, Turkey, during a period of 10 years. They were analyzed descriptively in terms of incidence, age, sex, cyst type, and site...
July 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28791981/the-oral-adverse-effects-of-isotretinoin-treatment-in-acne-vulgaris-patients-a-prospective-case-control-study
#17
U Erdemir, G Okan, S Gungor, B Tekin, S O Yildiz, E Yildiz
BACKGROUND: Isotretinoin is the most effective therapy to treat severe acne vulgaris and its systemic adverse effects have been well documented, but little is known on dental side effects over the course of treatment. OBJECTIVES: This prospective case-control study aimed to evaluate the oral adverse effects of isotretinoin in Turkish patients with acne vulgaris; compare oral conditions between patients and normal controls; and investigate the association between salivary parameters and International Caries Detection and Assessment System (ICDAS) scores...
July 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28791979/clinical-and-radiographic-evaluation-of-double-teeth-in-primary-dentition-and-associated-anomalies-in-the-permanent-successors
#18
M Aydinbelge, A E Sekerci, S Caliskan, H Gumus, Y Sisman, K Cantekin
OBJECTIVE: Understanding potential problems associated with primary double teeth (PDT) are important to provide prophylactic measures, thereby preventing or minimizing possible complications. The purposes of this study were to investigate the prevalence of PDT in a group of Turkish children and to compare the distribution of the different types of double primary teeth and their relationship to permanent successors. MATERIALS AND METHODS: A total of 17,268 children underwent a clinical examination to determine the presence of PDT...
July 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28783024/pneumococcal-nasopharyngeal-carriage-in-young-healthy-children-after-pneumococcal-conjugate-vaccine-in-turkey
#19
Ahmet Arvas, Haluk Çokuğraş, Emel Gür, Nevriye Gönüllü, Zeynep Taner, Hrisi Bahar Tokman
AIMS: To determine the prevalence of nasopharyngeal carriage of Streptococcus pneumoniae in healthy children aged 0-6 years who were vaccinated with pneumococcal conjugate vaccine. METHODS: This cross-sectional study was conducted on 150 healthy Turkish children between 1 month and 6 years of age. Serotyping was performed and risk factors of carriage were evaluated. RESULTS: The overall carriage rate was 14%. Vaccine type serotypes were determined in 17 (12...
August 4, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/28782659/serum-25-hydroxy-vitamin-d-levels-in-turkish-adolescent-girls-with-polycystic-ovary-syndrome-and-the-correlation-with-clinical-biochemical-parameters
#20
Esra Isci Bostanci, Sibel Ozler, Nafiye Karakas Yilmaz, Huseyin Yesilyurt
OBJECTIVE: Polycystic ovary syndrome (PCOS) is a common endocrinopathy among the female adolescents and young women. The aim of this study is to investigate the relationship between serum 25-hydroxy vitamin D (serum 25(OH) D) levels and metabolic parameters and other characteristics of the PCOS and non-PCOS adolescents. DESIGN: Case-control study. PARTICIPANTS: We analyzed 31 girls with PCOS as defined with the Rotterdam criteria and 35 girls were non-PCOS controls...
August 3, 2017: Journal of Pediatric and Adolescent Gynecology
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