The prevalence of goiter and hypothyroidism among school children 6 years after introduction of a mandatory salt iodination program in a severely iodine-deficient area of the West Black Sea region of Turkey.

The objective of the current study was to determine the prevalence and the degree of iodine deficiency after mandatory salt iodization in Yığılca's school-aged children. A total of 806 school children aged 6-19 years were evaluated. The prevalence of goiter in children aged 6-12 and 13-19 years was 20.

Lateral facial cleft associated with accessory mandible having teeth, absent parotid gland and peripheral facial weakness.

Transverse facial cleft is a very rare malformation. The Tessier no. 7 cleft is a lateral facial cleft which emanates from oral cavity and extends towards the tragus, involving both soft tissue and skeletal components.

EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report.

EEC syndrome is characterized by ectodermal dysplasia, ectrodactyly and cleft lip and/or palate and associated anomalies such as lacrimal duct obstruction, urinary tract anomaly, and hearing loss. This syndrome is a rare autosomal dominant disorder caused by heterozygous mutations in the p63 gene. Herein, a newborn infant with EEC syndrome with secundum atrial septal defect who had a de novo mutation (c.

Do gastrointestinal and respiratory signs and symptoms correlate with the severity of gastroesophageal reflux?

Background: Gastroesophageal reflux (GER) is a disorder that is common by seen in childhood and may lead to severe complications. In this study, we ascertained the incidence of GER among the children who had typical and atypical complaints of GER and whether there was a difference between two groups comparing the findings of 24-hour pH-meter.

Methods: 39 out of 70 patients with typical and atypical GER symptoms were diagnosed as GER by 24-hour pH-meter monitoring.

Congenital imperforate hymen with bilateral hydronephrosis, polydactyly and laryngocele: A rare neonatal presentation.

Imperforate hymen is a rare congenital malformation to present with symptoms in the neonatal period. We present a case of a 5-day-old neonate with a marked interlabial swelling causing urinary retention. Imaging revealed hydrometrocolpos, hydrosalpinx, and bilateral hydronephrosis.

A newborn with Cornelia de Lange syndrome: a case report.

Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Early in life, the distinctive craniofacial features in mild de Lange syndrome may be indistinguishable from the severe (classical) phenotype.

Partial trisomy 1(q25qter) due to a de novo unbalanced 1;19 translocation in a neonate.

We describe a male neonate with a duplication of 1(q25qter) due to de novo unbalanced translocation (1;19)(q25;pter). He had macrocephaly, wide sutures and wide anterior fontanelle, bilateral temporoparietal bossing, downward slanting palpebral fissures, low set, posteriorly rotated ears, downturned mouth corners, thin upper lip, retrognathia, high arched palate, triangular face, widely spaced nipples, bilateral single transverse palmar creases, bilateral partial syndactyly between second and third toes, ventricular dilatation, corpus callosum hypoplasia, and cavum septi pellucidi and cavum vergae, ventricular and atrial septal defects.

The prevalence of overweight and obese children aged 6-17 years in the West Black Sea region of Turkey.

Objective: To assess the prevalence of overweight and obese Turkish children.

Design: Cross-sectional study in school children.

Subjects: A total of 6924 children (3281 boys and 3643 girls) aged 6-17 years from the West Black Sea region of Turkey.

Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate.

We describe a male neonate with a duplication of 4(q31.3qter) due to unbalanced segregation of a maternal translocation (4;5)(31.3;p15.

Do baby wet wipes change periurethral aerobic flora?

There is massive enteric bacterial colonization in the periurethral region during infancy. Fecal soiling is considered to be responsible for this colonization. We hypothesized that baby wet wipes containing chemical cleansing compounds, which are used for the cleaning of babies after diaper soiling, could be a contributing factor in this colonization.

Is there a relationship between cord blood pregnancy-associated plasma protein-A and birth weight and length?

Background: Infants whose mothers had low serum pregnancy-associated plasma protein-A (PAPP-A) in the first trimester were observed to have intrauterine growth retardation.

Aim: Suggesting that PAPP-A plays an important role in the availability and activity of insulin-like growth factors (IGFs), which affect growth, we aimed to investigate cord blood PAPP-A levels of infants with different birth lengths and weights. STUDY DESIGN AND OUTCOME MEASURES: The study included 97 full-term, live-birth neonates.

A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone.

Context: Resistance to thyroid hormone (RTH) is a dominantly inherited syndrome of variable tissue hyporesponsiveness to thyroid hormone (TH).

Objective: We report a newborn who presented with severe RTH (Mkar) with serum TSH 1500 mU/liter and free T(3) greater than 50 pm (normal 3.1-9.

A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism.

A novel Fryns "anophthalmla-plus" syndrome associated with primary hypothyroidism: Here, we report a newborn male with "anophthalmia-plus" syndrome and primary congenital hypothyroidism. To our knowledge this is the first case of 'anophthalmia-plus' syndrome associated with congenital hypothyroidism in the literature up to date.

Does hepatic subcapsular calcification in a premature baby reflect disease?

We followed a premature baby with hepatic subcapsular calcification of unknown etiology. Results of clinical and laboratory investigations and growth of the patient were normal. The causes of this condition are discussed and we suggest that it does not necessarily reflect disease.

Periumbilical skin length measurements in the newborn.

Normal limits of periumbilical skin were determined in 304 newborn babies in the first 24 h. Cranial umbilical skin (SD) was 12.36 (3.

Lactational failure--study of risk factors in Turkish mothers.

Risk factors for lactational failure in puerperium were investigated. Sixty mothers with inadequate daily milk supply for their babies were the lactational failure group, and 60 mothers with similar age having babies with similar age and weight were chosen as the control group. Low prolactin levels, low serum iron and low serum ferritin levels and low aldosterone values and birth in community hospitals were associated with significantly increased risk of deficient lactation.

Plasma chromium levels in hypoglycemic preterm, full-term and in intrauterine-growth-retarded babies.

Serum chromium levels of hypoglycemic preterm and full-term babies were investigated. Normoglycemic preterm and full-term babies were selected as the control group. There was no statistically significant difference in serum Cr levels between preterm and full-term, hypoglycemic and normoglycemic, preterm hypoglycemic and preterm normoglycemic, full-term hypoglycemic and full-term normoglycemic babies.