Muscle phenotypic variability in limb girdle muscular dystrophy 2 G.

Limb girdle muscular dystrophy type 2 G (LGMD2G) is caused by mutations in the telethonin gene. Only few families were described presenting this disease, and they are mainly Brazilians. Here, we identified one additional case carrying the same common c.

Medical education content required for kernicterus risk recognition.

Objective: The objective of this study was to define the minimum academic content required for pediatricians to recognize the risk of kernicterus.

Methods: A questionnaire was developed on the basis of American Academy of Pediatrics guidelines seeking to develop a consensus for pediatricians in training on the theoretical content about neonatal hyperbilirubinemia. To validate the instrument, we used the Delphi consensus method.

Association of overweight with asthma prevalence in adolescents in Rio de Janeiro, Brazil.

Objective: To evaluate the relationship between asthma and overweight in adolescents.

Methods: Cross-sectional study including 13-14-year-old adolescents in Rio de Janeiro, Brazil. Asthma was defined according to the International Study of Asthma and Allergies in Childhood (ISAAC).

Variation in clinical presentation of childhood group A streptococcal pharyngitis in four countries.

We conducted a cross-sectional study from September 2001 to August 2003 during which children between 2 and 12 years of age presenting with complaint of sore throat were recruited from urban pediatric clinics in Brazil, Croatia, Egypt and Latvia. The objective of the study was to compare clinical signs and symptoms of children presenting to urban pediatric clinics with sore throat in and between countries and to identify common clinical criteria predicting group A beta hemolytic streptococcal (GAS) pharyngitis. Using a single standard protocol in all four sites, clinical data were recorded and throat swabs obtained for standard GAS culture in 2040 children.