Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome, and muscle-eye-brain disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. FCMD is frequent in Japan, but no FCMD patient with confirmed fukutin gene mutations has been identified in a non-Japanese population. Here, we describe a Turkish CMD patient with severe brain and eye anomalies. Sequence analysis of the patient's DNA identified a homozygous 1bp insertion mutation in exon 5 of the fukutin gene. To our knowledge, this is the first case worldwide in which a fukutin mutation has been found outside the Japanese population. This report emphasizes the importance of considering fukutin mutations for diagnostic purposes outside of Japan.
The aim of this study was to investigate the incidence of congenital hypothyroidism (CH) in the West Black Sea Area, a mild-to-moderate iodine deficient area in Turkey. Neonatal screening for CH was performed using blood specimens collected onto filter paper. Thyrotropin [thyroid-stimulating hormone (TSH)] was measured by radioimmunoassay, and a value >20 microU/ml was considered as cut-off point for re-examining. Venous serum was obtained to measure TSH, thyroxin (T4), free T4 (FT4) and thyroglobulin (TG). To determine the iodine status of the study area, median urinary iodine was measured in 212 randomly selected neonates and their mothers. A total of 18606 neonates were screened from three cities (Bolu, Düzce, and Zonguldak) between 2000 and 2002. With a cut-off point of TSH value >20 microU/ml, the recall rate was found 1.6%. Eight cases of CH were diagnosed (incidence 1/2326). There were three cases of transient hypothyroidism, with an incidence of 1/6202. Twenty-six percent of the TSH values was greater than 5 microU/ml. Median urinary iodine concentrations in neonates and their mothers were 85 microg/l and 40 microg/l, respectively. The incidences of CH, transient hypothyroidism and the recall rate were higher in our study area than many countries in Europe. The study area has been affected by mild-to-moderate iodine deficiency. Neonatal screening for CH should be introduced in Turkey without delay. A national comprehensive infantile hypothyroidism and iodine prophylaxis policies should be developed.
The overall prevalence of overweight and obesity was 10.3% and 6.1% respectively. The overall prevalence of obesity in boys and girls was 7.0% and 5.4%, respectively, and the difference was significant (chi(2) = 8, p = 0.004). The prevalence of obesity in urban and rural areas was 7.7% and 3.9%, respectively, and the difference was significant (chi(2) = 40, p < 0.001). The prevalence of overweight boys and girls in urban areas was 11.6% and 13.2%, respectively, but the difference was not significant (chi(2) = 2, p > 0.05). However, the prevalence of overweight boys and girls in rural areas was 4.8% and 9.4%, respectively, and the difference was significant (chi(2) = 25, p < 0.001). Although the prevalence of obesity differed significantly between boys and girls in urban children (chi(2) = 13, p < 0.001), no significant difference was detected in the prevalence between boys and girls from rural areas (chi(2) = 0.4, p > 0.5). The prevalence of obesity was significantly higher in private schools than in public schools (chi(2) = 48, p < 0.0001). The prevalence of overweight and obese Turkish children aged 6-17 years is considerably lower than in most European countries. The children in urban settings and higher socioeconomic groups had a higher prevalence of overweight and obesity. The Westernisation of the behaviour patterns of children and living in an urban setting in a developing country are risk factors for obesity.
Exclusive breastfeeding among infants less than or equal to 6 months old and continued breastfeeding (20-23 months) are high-priority indicators of infant health. We aimed to assess breastfeeding practices, using standardized breastfeeding indicators, and to determine the causes of early discontinuation of breastfeeding (< or = 6 months) in children aged 0 to 24 months in Duzce, Turkey. In this cross-sectional study, the study group consisted of 158 children, and questionnaires were completed by face-to-face interviews with the mothers. The rate of exclusive breastfeeding (< or = 6 months) was 22.4%. The rate of continued breastfeeding (20-23 months) was 10.0%. The 2 primary causes of early discontinuation of breastfeeding were inadequate milk supply (38.1%) and baby not latching on (14.3%). Half of the individuals who recommended infant formula to mothers with infants less than or equal to 6 months old were physicians.
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