Genetic analyses of the siblings revealed homozygosity for mutation c.736C>T on the GYS2 gene confirming the diagnosis. The third patient was found to be homozygous for c.1145G>A. GSD0 is more common than previously assumed. Recognition of the variable phenotypic spectrum of GSD0 and routine analysis of GYS2 are essential for the correct diagnosis.
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.
Plasma thiol is lower in JIA patients, especially during periods of active disease, than in healthy controls, indicating that low thiol might be an important factor in the etiology of JIA and that antioxidant systems are negatively affected by inflammatory diseases, especially during periods of active disease.
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