Heterozygous mutations in the NKX2-5 gene of patients with various congenital heart defects have been reported. Most of the congenital heart defects associated with the mutations in the NKX2-5 gene are conotruncal heart anomalies, primarily the tetralogy of Fallot. In this study, the authors screened 72 Turkish children with conotruncal heart anomalies and 185 healthy control subjects to find the NKX2-5 alterations. They found one previously documented NKX2-5 missense alteration, heterozygous c.73C>T (p.Arg25Cys), in a 10-year-old boy with tetralogy of Fallot. The same heterozygous alteration was found also in the patient's healthy father and in two unrelated persons in the healthy control group. The current study shows for the first time the presence of p.Arg25Cys in healthy control subjects other than African Americans. These results show that no genetic support exists for the pathogenecity of this alteration, although a previous in vitro study and theoretical predictions suggest a structural/functional difference in the altered protein region.

No abstract

Vitamin B12 deficiency should be considered in the differential diagnosis of some hematological, neurological, and gastrointestinal disturbances of infants.

No abstract

Social contact between individuals is believed to be a fundamental cause in the transmission of many respiratory tract infections. Because they have not yet been fully vaccinated, infants are at high risk for contracting whooping cough, influenza and their serious complications. Therefore, determining infant social contact patterns is an important step in protecting them from respiratory tract infection. This study included 1200 healthy infants (<12 months of age). Social contact diaries were used to estimate the frequency and nature of the infants' social contacts. This survey also gathered information regarding the infants' respiratory symptoms and their frequency of attendance at crowded places over a period of 1 week. The diary return rate was 83.8% (N = 1006), and there was a total of 4706 contacts reported for these infants. The median daily contact number per capita was 4 (range 1-18). The median number of contacts with adolescents was 0 (range 0-7). Of the infants, 50.3% had contact with non-household individuals. The mothers had the longest contacts with their babies. Contacts with school children, frequency of attendance at crowded places and age were determined to be significant effective factors for reporting respiratory symptoms. Results suggest that school-age siblings and the mothers should be primarily vaccinated, and parents should keep their babies away from crowded places for protecting their infants.