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. The study group consisted of 62 parents of PKU patients. Methods: data were collected using a ready-made questionnaire on sociodemographic characteristics, PKU and dietary treatment. Total knowledge score (KS) was calculated by giving 5 points for each correct answer. Results: the study included 34 mothers and 28 fathers; 90.3% of patients were diagnosed during the newborn screening program, 6.5% between ages 1 and 2, and 3.2% at age 6 or after. Among all, 38.7% presented to their follow-up appointments with their mothers, 61.3% with both their parents and none with their father alone. Mothers answered all questions more accurately than fathers. Mothers´ and fathers´ mean KSs were 73.97 ± 12.72 and 53.04 ± 22.25, respectively. The highest KS was obtained among parents whose children were 13 years of age or older. Conclusion: the presence of another family member, parents´ education level, working status and professional qualifications, previous training on PKU and family´s economic status were the affecting factors. Creating a PKU dietary plan requires knowledge and diligence. Patients and their parents should be periodically informed about the disease and dietary treatment in order to increase their level of knowledge.

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. Overall, young children in Turkey go to bed late (10:00 p.m.), awaken twice per night for 30 min, and obtain 11.5 h of total sleep, showing no sex-specific differences. Distinct night-time sleep patterns emerged after 18 months of age. Importantly, although currently breastfed healthy children were 3.8-times less likely to sleep through the night, total sleep duration and exclusive breastfeeding duration were higher in children who were not sleeping through the night. Overall, bedsharing was identified in 11.5%, and only room sharing was reported in 52.9%. Parental perception of a child's sleep as problematic was 35.8%. Mothers with higher educational attainment were more likely to perceive their children's sleep as a problem. Maternal depressive and anxious symptoms and a history of excessive infant crying were the determinants predicting the likelihood of both parent-perceived sleep problems and poor sleepers. The present analysis of sleep structure in infancy and toddlerhood provides reference data for well-child visits. These findings highlight the importance of considering maternal anxiety, depression and behaviour management techniques to cope with fussy infants in addressing childhood behavioural sleep problems.

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. In this cross-sectional, multicenter, descriptive study, medical records of 66 AKU patients were retrospectively evaluated. Patients' data regarding demographic, clinical and genetic characteristics were recorded. HGD database (http://hgddatabase.cvtisr.sk/) was used to identify HGD gene variants. Of the patients, 37 (56.1%) presented with isolated dark urine and 29 (43.9%) were diagnosed based on the clinical symptoms or family screening. One of these patients was on follow-up for 2 years due to Parkinsonism and was diagnosed with AKU on further analyses. Signs of ochronosis such as joint pain, low back pain and renal stones developed in childhood in 7 patients. Eight patients were diagnosed with depression via psychiatric evaluation. There were 14 (21.2%) patients operated on for ochronosis. The most frequent mutation observed in the patients was c.175delA, which was followed by c.674G > A and c.1007-2A > T mutations. Four novel mutations (c.189G > A, c.549+1G > T, c.1188+1G > A, and c.334 T > G) were identified in the patients included in the study. In addition to the known signs such as dark urine and skin pigmentation, symptoms involving different systems such as neurological findings and depression can also be encountered in AKU patients. The presence of a change in urine color needs to be questioned in patients presenting with different symptoms such as arthralgia/arthritis, renal stones or low-back pain, particularly in childhood, when skin ochronosis is not pronounced, and further examination should be performed.

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. The path that will facilitate the adaptation to treatment comprises nutrition regulation and increased daily physical activity and psychological support. Diet alone leads to a significant reduction in both fat and non-fat body mass. However, adding exercise to dietary therapy improves weight loss by maintaining non-fat body mass. Even though exercise alone has little effect on weight loss, it provides a significant reduction in mortality. Moreover, regular physical exercise is also an important factor in regulating body composition during growth. However, changes in the child's body during growth affect the motor power and performance, so it is necessary to plan the exercise according to the individual characteristics, age and sex of the child. Short-term frequent exercises are more entertaining and more accessible forms of exercise (dancing at home) for children, and enhance compliance with treatment. Starting treatment as soon as possible will also increase behavioral effectiveness and compliance. This paper focuses on the basics of exercise therapy, which is extremely beneficial for both healthy and obese children.

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 Kirikkale, Turkey, to determine the state of verbal and/or physical domestic violence and its effects on adolescent behavior. A total of 1,807 students (44.4% female and 55.6% male) with a mean age of 15.1 ± 1.6 years at two high schools and five elementary schools were enrolled in the study and completed questionnaires that surveyed their exposure to domestic violence and its possible relationship to their disruptive behaviors. FINDINGS: Twenty-three percent of the students were exposed to violence. Among those, 75% had been exposed to violence within the family, 53% by their friends and 17% by their teachers. Of those exposed to domestic violence, 70% were exposed only verbally and 24% only physically. The economic level of the family, gender, marital status of the parents, and education level of the father were significant factors on violence exposure within the family. The results showed that the rates of being involved in a fight, getting injured at a fight, using a gun, bringing knives (mostly pocket knives) to school and using it were higher in children exposed to domestic violence than with the children who were not. CONCLUSIONS: To address the impact of domestic violence on teens and possibly decrease the adolescent's violent behavior and its consequences, policies aiming to reduce violence in the social environments of adolescents are needed.

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. Age of onset, clinical presentation, initial citrulline and ammonia levels, family history and molecular genetic analysis were retrospectively evaluated. RESULTS: The mean age of the cohort and the mean age at the time of diagnosis were 48.3±36.5months (min: 12days, max: 10years) and 11.6±26.2months (min: 3days, max: 8years), respectively. In four patients, a homozygous p.Gly390Arg pathogenic variant was detected. All patients homozygous for p.Gly390Arg were diagnosed during the newborn period with the clinical presentation of classical citrullinemia. In each two patients, homozygous p.Arg86His, c.773+49C>T and p.Gly362Val pathogenic variants were detected. Clinical presentation was compatible with the mild form of the disease in patients homozygous for c.773+49C>T and for Gly362Val. Novel compound heterozygous genotypes (p.Ala164Pro/p.Gly390Arg; p.Leu290Pro/p.Gly390Arg; p.Thr389Pro/p.Gly390Arg) were identified in five patients. Of these, three siblings with CTLN1 were diagnosed with the compound heterozygous genotype p.Ala164Pro/p.Gly390Arg at the age of 4days, 5days and 2years, respectively. The other two patients with novel compound heterozygous genotypes (p.Leu290Pro/p.Gly390Arg; p.Thr389Pro/p.Gly390Arg) were identified in the first month of life as neonatal onset form and were born to non-consanguineous parents. CONCLUSION: In our study, consistent with the literature, a correlation was found between homozygous p.Gly390Arg mutation and the classic neonatal onset form. Mild citrullinemia was detected in patients with c.773+49C>T or p.Gly362Val pathogenic variants. This study adds to our understanding of the molecular genetic background of patients with CTLN1, and allows to infer on the correlation between the genotype and phenotype of the disease.

First manifestation of citrullinemia type I as Sandifer syndrome.

Kiliç M, Altinel-Açoglu 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. We report an eleven-month-old infant girl who presented as Sandifer syndrome clinically but was later diagnosed with citrullinemia type I. Metabolic evaluation and molecular analysis confirmed the correct diagnosis. Despite the fact that many patients are already known in the literature, this is the first report of a Sandifer syndrome-like presentation of citrullinemia type I. This paper suggests that suspicion of Sandifer syndrome should also lead to inclusion of urea cycle disorders in the list of differential diagnoses.

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. We used Beck Depression Inventory (BDI) to assess the parental depression and State-Trait Anxiety Inventory S-T (STAI S-T) to assess parental anxiety. RESULTS: Depression and anxiety scores were significantly higher in the case group (BDI: 12.3 ± 9.1; STAI-S: 38.2 ± 9.6; STAI-T: 43.2 ± 6.9) than controls (BDI: 5.4 ± 4.1 p=0.000; STAI-S: 31.8 ± 7.6 p=0.001; STAI-T: 37.0 ± 7.2 p=0.000). Mothers of the patients had higher scores than the other parental groups (BDI: p=0.000, STAI-S: p=0.001 and STAI-T: p=0.000). Logistic regression analysis showed that low educational level of the parent was the only independent factor for depression (OR: 9.96, 95% CI: 1.89-52.35, p=0.007) and state anxiety (OR: 6.99, 95% CI: 1.22-40.48, p=0.030) in the case group. CONCLUSION: A subset of parents with PKU patients have an anxiety or depressive disorder. Supportive services dealing with the parents of chronically ill children such as PKU are needed in order to reduce the level of anxiety.

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. The students were divided into age-related groups (group 1 = 11 to 13 years of age; group 2 = 14 to 15 years; group 3 = 16 to 18 years). The time they went to sleep was mostly between 10 and 11 p.m. in groups 1 and 2, and 11 to 12 p.m. in group 3. Difficulty in falling asleep was reported by 16.8 to 19.6% of the students in the three groups. Difficulty in waking up in the morning was reported by 12.7% of group 1, 16.0% of group 2, and 16.8% of group 3. Snoring was present in 12.1% of females and 22.0% of males. The occurrence of one nightmare in the preceding 3 months was reported by 11.3% of the students; 17.9% of the students reported having nightmares several times. Daytime sleepiness was present in 65.1%, and concentration difficulty was present in 56.8% of the students. We conclude that difficulty in falling asleep, snoring, and daytime sleepiness may be seen in adolescents who are in both primary and high schools. Watching inappropriate programs and movies on television and intrafamilial physical trauma may cause nightmares and sleeping problems in these adolescents. Students and families should be educated about the importance of sleep in academic performance. Countries' public health policies should address sleep problems and related educational activities.

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. In contrast, very little is known of the cell surface changes during cell division. We undertook a quantitative proteomic comparison of cell surface-exposed proteins in human cancer cells that were tightly synchronized in mitosis or interphase. Six hundred and twenty-eight surface and surface-associated proteins in HeLa cells were identified; of these, 27 were significantly enriched at the cell surface in mitosis and 37 in interphase. Using imaging techniques, we confirmed the mitosis-selective cell surface localization of protocadherin PCDH7, a member of a family with anti-adhesive roles in embryos. We show that PCDH7 is required for development of full mitotic rounding pressure at the onset of mitosis. Our analysis provided basic information on how cell cycle progression affects the cell surface. It also provides potential pharmacodynamic biomarkers for anti-mitotic cancer chemotherapy.

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). Once symptoms have developed, tandem-MS can be used, although this currently covers only up to 40 metabolites. NMR potentially offers a rapid and versatile alternative.We conducted a multi-center clinical study in 14 clinical centers in Turkey. Urine samples from 989 neonates were collected and investigated by using NMR spectroscopy in two different laboratories. The primary objective of the present study was to explore the range of variation of concentration and chemical shifts of specific metabolites without clinically relevant findings that can be detected in the urine of Turkish neonates. The secondary objective was the integration of the results from a healthy reference population of neonates into an NMR database, for routine and completely automatic screening of congenital metabolic diseases.Both targeted and untargeted analyses were performed on the data. Targeted analysis was aimed at 65 metabolites. Limits of detection and quantitation were determined by generating urine spectra, in which known concentrations of the analytes were added electronically as well as by real spiking. Untargeted analysis involved analysis of the whole spectrum for abnormal features, using statistical procedures, including principal component analysis. Outliers were eliminated by model building. Untargeted analysis was used to detect known and unknown compounds and jaundice, proteinuria, and acidemia. The results will be used to establish a database to detect pathological concentration ranges and for routine screening.

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). Assesment of nutritional status was based on the triceps skinfold thickness (TSF), arm fat area (AFA) estimates derived from TSF and mid-upper arm circumference measurements. TSF and AFA Z-scores were computed using reference data. RESULTS: Cerebral-palsied children had lower TSF and AFA Z-scores compared to reference data from healthy children. The prevalence of underweight and overweight among boys was 8.3 and 9.5%, respectively, whereas it was 19.0 and 0.5% for girls. Underweight was more prevalent in the low functioning children than in moderate functioning children. CONCLUSIONS: The findings of this study indicate that cerebral-palsied children face nutritional challenges. Underweight is more prevalent than overweight among cerebral-palsied children. To optimize the outcomes of rehabilitation and prevention efforts, an understanding of the heterogeneity of nutritional status among children with CP is required.

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. It was carried out at three public primary and two high schools representative of two different socioeconomic statuses. 430 Turkish school children (246 girls, 184 boys) were asked voluntarily to answer a set of questionnaires in their classrooms at the beginning of a training programme. Then the State and Trait Anxiety Inventory for Children was administered. Mean age of the students was 14.16 ± 1.87 years. The mean total STAI-CS and STAI-CT scores were 40.24 ± 11.64, and 44.71 ± 9.64, respectively. There were no differences in STAI-CS and STAI-CT scores between boys and girls in both schools and in all age groups. Among girls, a positive body image had a significant effect on state anxiety scores. There was a positive correlation between age and anxiety scores (r = .17, F:12.176, p < .001). Students identifying their families SES as bad and/or moderate scored significantly higher in comparison to the other groups (p < .05). STAI-CS scores were higher for lower educational grade, higher body weight and sleep problems. In Kirikkale, a city faced with substantial changes in cultural and traditional norms, adolescents could be expected to be under stress and appear to be responding to stress with anxiety.

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. RESULTS: The prevalence of CAM use, at least once in the previous year, was 58.6%. The most commonly used CAM modality was herbal preparations (82.7%), which were used to treat cough (42.0%), diarrhea (30.0%) and gas (colic) pains (34.4%). These products were recommended by the respondents' mother/mother-in-law (52.5%), neighbors (20.0%), friends (14.7%) and doctors (12.8%). Only 31.6% (61) of these parents informed their doctor about their use of CAM to treat their children. Thirty-eight percent (n=102) of the participants stated that they preferred to use CAM modalities rather than referring to a doctor when their child was sick. While most of the families (57.7 %) stated that the method they used was "slightly" useful, 18.6% of them stated the method to be "fairly" useful. The parental use of CAM and the educational level of the parents were among the factors of affecting the use of CAM in children. No correlation was found between the use of CAM and the sex, social security status, income level and other sociodemographic properties of the respondents. CONCLUSION: This study showed that a great majority of parents of children in this population used CAM modalities and that herbal products were preferred. Most parents did not inform their physicians of their use of CAM. In the light of these findings, pediatricians should be prepared to discuss alternative therapies with parents, since talking about CAM may be helpful in minimizing associated risks.

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. No family member was anti-hepatitis C virus positive, but the patient's uncle and his wife had genital condylomata. Although detailed physical examination uncovered no other findings indicative of sexual abuse, suspicion of abuse could not be eliminated. Therefore, we wanted to draw the attention of health professionals to the association of anogenital warts and sexual abuse.

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. There were 250 students (105 male, 145 female) in Primary School and 178 (79 male, 99 female) students in High School. We used questionnaire to evaluate subjective tinnitus and hearing problems. Walkman usage, listening loud and noisy music, intra-familial physical trauma, concentration difficulty in class and school success were also evaluated. RESULTS: In age-related groups (Group 1=11-13 years; Group 2=13-15 years; Group 3=16-18 years), hearing loss was present in 32.1% of Group 1, 19% of Group 2 and 28.3% of Group 3. Listening loud and noisy music was reported in 81.8% of Group 1, 95.4% of Group 2 and 87% of Group 3. Tinnitus was present 36.8% in Group 2, 33.5% in Group 1 and 31.5% in Group 3. Tinnitus after listening loud music was present in 42.7% of Group 2, 36.1% of Group 3 and 25.6% of Group 1. Among all students with tinnitus, 19.5% considered their school success as very good, 41.1% as good and 39.4% as bad. In students, using Walkman, tinnitus was seen both in the right and left ears. CONCLUSION: Tinnitus may be seen in adolescents at primary and high schools. Listening loud and noisy music and Walkman usage may cause an increase in the frequency of tinnitus manifestation. Adolescents should be educated about the hazardous effects of loud music. Education should include families, teachers, students, and whole community. These issues should be taken into public health policy of the countries.