Assessment of parents´ knowledge regarding phenylketonuria and its affecting factors: a cross-sectional study.

Introduction: the management of phenylketonuria (PKU) is complex. Practical skills and knowledge of individuals taking care of PKU patients are important for treatment compliance. This study investigated parents´ knowledge about PKU and its affecting factors.

Young children's sleep patterns and problems in paediatric primary healthcare settings: a multicentre cross-sectional study from a nationally representative sample.

Studies describing paediatric sleep patterns are needed by taking culture into consideration. The aim of this study was to identify parent-reported sleep-wake patterns in young children and explore possible factors influencing sleep problems. The mothers of 2,434 young children enrolled from well-child outpatient clinics in Turkey completed an online survey including sociodemographic variables, Brief Infant Sleep Questionnaire, Edinburgh Postnatal Depression Scale and Generalised Anxiety Disorder scales.

Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients.

Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase (HGD) as a result of a defect in the HGD gene. HGD enzyme deficiency results in accumulation of homogentisic acid (HGA) in the body, which in turn leads to multisystemic clinical symptoms. The present study aimed to investigate the presenting symptoms, age at diagnosis, and clinical and genetic characteristics of AKU patients followed-up in different centers in Turkey.

Exercise in the treatment of childhood obesity.

Changing lifestyles reduce the time spent by children on physical activity during the day. The result is an increasing frequency of childhood obesity, which has become one of the most common chronic diseases of childhood. Furthermore, the treatment of obesity in childhood is quite difficult, and the most common problem is non-compliance with obesity treatment.

Exposure to domestic violence and its effects on adolescents: A survey among Turkish students.

Problem: Exposure to domestic violence is an important social problem. What remains unknown are the effects of domestic violence on Turkish adolescents.

Methods: This study was performed in Kırıkkale, Turkey, to determine the state of verbal and/or physical domestic violence and its effects on adolescent behavior.

Identification of three novel mutations in fourteen patients with citrullinemia type 1.

Objectives: Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutations in the argininosuccinate synthetase 1 (ASS1) gene, which encodes for the argininosuccinate synthetase enzyme. Here, we report genetic and clinical characterizations of 14 patients with citrullinemia type 1.

Design & Methods: The study group consisted of 14 patients (4 females, 10 males) diagnosed with citrullinemia type 1 from three centers in Turkey.

First manifestation of citrullinemia type I as Sandifer syndrome.

Kılıç M, Altınel-Açoğlu E, Zorlu P, Yüksel D, Bülbül S, Haeberle J. First manifestation of citrullinemia type I as Sandifer syndrome. Turk J Pediatr 2017; 59: 696-698.

Depression and anxiety among parents of phenylketonuria children.

Objective: To investigate the existence of depression and/or anxiety with underlying risk factors among parents of children with classical phenylketonuria (PKU).

Methods: This cross-sectional study was conducted in the Division of Pediatric Metabolism, Ankara Children`s Hospital, Dokuz Eylul University, Kirikkale University, and Erzurum Local Research Hospital, Turkey, between January and July 2014. Parents of 61 patients and 36 healthy controls completed the self-report questionnaires.

Sleep problems of adolescents: A detailed survey.

We investigated the sleep problems and sleep habits of adolescents at three public primary schools and two high schools. Our study included 428 Turkish school children (244 girls and 184 boys). We used a questionnaire to determine the time they went to sleep at night; waking time in the morning; incidence of nightmares, snoring, daytime sleepiness, and intrafamilial physical trauma; concentration difficulty in class; and school success.

Quantitative comparison of a human cancer cell surface proteome between interphase and mitosis.

The cell surface is the cellular compartment responsible for communication with the environment. The interior of mammalian cells undergoes dramatic reorganization when cells enter mitosis. These changes are triggered by activation of the CDK1 kinase and have been studied extensively.

NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates.

Approximately 1 in 400 neonates in Turkey is affected by inherited metabolic diseases. This high prevalence is at least in part due to consanguineous marriages. Standard screening in Turkey now covers only three metabolic diseases (phenylketonuria, congenital hypothyroidism, and biotinidase deficiency).

Nutritional status of children with cerebral palsy in Turkey.

Purpose: The aim of this study was to assess the nutritional status, and provide information regarding anthropometric measurements of cerebral-palsied children living in the city of Ankara, Turkey.

Method: A total of 447 children with cerebral palsy (CP) were participated in this cross-sectional study. Participants were assessed for functional motor impairment by the gross motor function classification system (GMFCS).

State and trait anxiety levels of adolescents in a changing society, Kirikkale city, Turkey.

Adolescents face rapidly changing challenges. Psychosocial health problems during adolescence are relatively common in all cultures. This study was designed to evaluate the state and trait anxiety status and influencing sociodemographic and other factors, thought to pertain to youth, on anxiety among school children in Kirikkale.

Intrascrotal extratesticular neurofibroma as a possible cause of failed descent in ipsilateral testis.

Intrascrotal extratesticular neurofibromas (IEN) often originate from genitofemoral nerve (GFN) and present as a paratesticular mass. Synchronous presence of IEN and undescended testis has not been reported previously. A 12-year-old boy with neurocutaneous syndrome and congenital giant melanocytic nevi along with IEN and ipsilateral undescended testis is presented, to discuss the underlying pathophysiology of failed testicular descent in the presence of IEN.

Use of complementary and alternative medicine in a pediatric population in southern Turkey.

Purpose: The use of complementary and alternative medicine (CAM) in children is becoming increasingly acceptable and popular. The aim of this questionnaire-based study was to determine the prevalence, patterns of use, types, perceived effectiveness and associated factors of CAM in children.

Methods: Parents of children (n= 268) who attended the Pediatric Outpatient Department of the Faculty of Medicine at Gaziantep University in June and July 2008 were asked to complete a questionnaire.

Difficulties in diagnosing sexual abuse in children with condyloma acuminata in Turkey.

Human papillomavirus is responsible for anogenital warts and could be regarded as an indicator of possible sexual abuse in children. A genital wart was detected during an investigation of anti-hepatitis C virus positivity in a four-year-old male patient. No pathological findings of another sexually transmitted disease were found except complete cleft palate and circumferential lesions in the perianal region.

Subjective tinnitus and hearing problems in adolescents.

Objectives: We investigated the hearing problems and tinnitus frequencies in adolescents at three public primary and two high schools.

Methods: This study was carried out at three public primary and two high schools. 428 Turkish school children (244 girls, 184 boys) were asked to voluntarily answer a set of questionnaires in their classrooms at the beginning of the training program.