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.157C > T mutation in the telethonin gene but with an atypical histopathological muscle pattern. In a female patient with a long duration of symptoms (46 years), muscle biopsy showed, in addition to telethonin deficiency, the presence of nemaline rods, type 1 fiber predominance, nuclear internalization, lobulated fibers, and mitochondrial paracrystalline inclusions. Her first clinical signs were identified at 8 years old, which include tiptoe walking, left lower limb deformity, and frequent falls. Ambulation loss occurred at 41 years old, and now, at 54 years old, she presented pelvic girdle atrophy, winging scapula, foot deformity with incapacity to perform ankle dorsiflexion, and absent tendon reflexes. The presence of nemaline bodies could be a secondary phenomenon, possibly associated with focal Z-line abnormalities of a long-standing disease. However, these new histopathological findings, characteristic of congenital myopathies, expand muscle phenotypic variability of telethoninopathy.

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. Signs and symptoms were tested for statistical association with GAS positive/negative pharyngitis, and were compared using chi(2) tests, ANOVA and Odds Ratios. Clinical signs of GAS pharyngitis in children presenting to clinics varied significantly between countries, and there were few signs or symptom that could statistically be associated with GAS pharyngitis in all four countries, though several were useful in two or three countries. Our results indicate that the clinical manifestations of pharyngitis in clinics may vary by region. It is therefore critical that clinical decision rules for management of pharyngitis should have local validation.

Effectiveness of home-based peer counselling to promote breastfeeding in the northeast of Brazil: a randomized clinical trial.

AIMS: To evaluate the effectiveness of home-based peer counselling to increase breastfeeding rates for unfavourably low birthweight babies. METHODS: Randomized clinical trial carried out in maternity hospitals and households in Fortaleza, one of the regions in Brazil with very low income; 1003 mothers and their newborns were selected in eight maternity hospitals. Newborns needed were healthy and weighed less than 3000 g. INTERVENTION: Breastfeeding counselling, conducted by lay counsellors from the community, during home visits carried out on days 5, 15, 30, 60, 90 and 120 after birth. MAIN OUTCOME MEASURE: Feeding methods in the fourth month of life. RESULTS: The intervention increased exclusive breastfeeding (24.7% vs 19.4%; p=0.044), delayed the introduction of formula and increased the time infants substituted breastfeeding to bottle milk (bottle milk 33.4% in the control group and 20.1% in the intervention group; p=0.00002). When comparing the frequency of artificial breastfeeding versus all other forms of breastfeeding (exclusive+predominant+partial), the intervention increased breastfeeding rates in 39% (RR=0.61; CI 95%: 0.50-0.75); 15% of children were free from artificial feeding (absolute risk reduction). The number of families to be visited to avoid one child receiving artificial feeding (NNT) was 7 (CI 95%: 5-13). CONCLUSIONS: Breastfeeding counselling, promoted by lay counsellors, can impact favourably on exclusive breastfeeding rates and contribute to delaying the utilization of milk formula and weaning. The intervention has great application potential because most cities in the northeast of Brazil count on community health workers that could do the counselling.