Five-year survival without major disability of extremely preterm infants born at 22-27 weeks' gestation admitted to a NICU.

AIM: To compare the 5-year survival without major disability in infants born at the threshold of viability at 22-25 weeks who were actively treated in the delivery room and admitted to a NICU to that of those born at 26-27 weeks of gestation. METHODS: All infants between 22(+0) and 27(+6) weeks of gestation admitted to a regional intensive care unit during 1999-2003 were enrolled prospectively. The survival and major disability at 5 years of age were analysed by gestational age. RESULTS: Of 242 treated infants, 202 survived (83.5%). Although the overall survival rate was significantly higher in the 25-27 weeks' gestation infants than the 22-24 weeks' gestation infants (p < 0.001), the survival rate among infants 22-24 weeks (63.6%, 63.6%, and 70%) did not significantly differ, likewise infants 25-27 weeks (88.7%, 90.6%, and 92%) had similar results. Overall, 28 children (14.4% of assessed) had major disability. Both survival and survival without major disability were positively influenced by increasing gestational age, increasing birth weight, being born at 25-27 weeks and being female child. CONCLUSION: With an active approach in treatment, the outcome of infants born at 25 weeks is comparable to those born at 26-27 weeks. Thus, the 'grey zone' in which the risk of adverse outcome is high narrows to 22-24 weeks.

Clinical Heterogeneity, Tissue Distribution, and Intergenerational Segregation of mtDNA Mutation A3243G.

Tissue distribution and segregation and the functional consequences of heteroplasmic mitochondrial DNA mutation A3243G were studied in 30 carriers. The mutation load in hair follicles was higher in 20 patients with a broad spectrum of clinical symptoms than in 10 nonaffected carriers. The onset of the disease negatively correlated with the mutation load in blood and muscle. The activities of respiratory chain complexes in isolated muscle mitochondria did not decrease in all patients and were normal in isolated platelets. Changes in the heteroplasmy level between pairs of mothers and offspring suggest that random genetic drift is the mechanism associated with the intergenerational transmission of the A3243G mutation. In conclusion, detailed clinical investigations and mitochondrial DNA analyses in several tissues are of the highest diagnostic value for the prognosis of the disease in carriers of the A3243G mutation.

[Ultrasound measurement of visceral fat in obese children]. / Moznosti sonografického zjist'ování mnozství viscerálního tuku u obézních detí.

BACKGROUND: Measurements of anthropometric parameters are widely used in clinical practice as a convenient index of intraabdominal fat. The paper is aimed to reveal correlations between ultrasound measurement of intraabdominal depth (IAAT) and selected anthropometric and biochemical parameters in childhood. METHODS AND RESULTS: In 69 obese children (38 boys, BMI28.3+/-3.2, aged 12.8+/-0,52 and 31 girls with BMI27.4+/-5.02, 12.4+/-0.51), anthropometry, IAAT and laboratory tests were evaluated. Height, weight, BMI, waist and hip circumferences, 10 skinfolds and blood pressure were measured. Blood glucose, uric acid, lipids, inzulín and C-peptide levels were determined. Pearson's partial correlation coefficients after adjusting for age were calculated. In boys, the following significant correlations of IAAT were revealed: with BMI (r=0.44, p<0.06), chest (r=0.45, p<0.005) and hip (r=0.65, p<0.0001) circumferences, waist/hip ratio (WHR, r=0.61, p< or =0.0001), subscapular (r=0.45, p< or =0.005), axillary (r=0.55, p<0.0004), suprailiac (r=0.51, p< or =0.001) and abdominal (r=0.54, p=0.0004) skinfolds. However, among biochemical indexes only triglyceride level was associated with IAAT (r=0.41, p< or =0.01). In girls, the following significant correlations of IAAT were observed: with BMI (r=0.42, p< or =0.01), chest (r=0.42, p< or =0.01) and waist (r=0.46, p<0.009) circumferences, subscapular (r=0.46, p<0.009) and abdominal (r=0.52, p<0.003) skinfolds. In girls, no significant correlation of IAAT with WHR and metabolic parameters was found. CONCLUSIONS: IAAT in children is associated with anthropometric indexes of body fat distribution and in boys also with serum triglyceride level.

[Enzyme therapy in children with severe forms of Gaucher's disease]. / Enzymová terapie u detí s tezkou formou Gaucherovy nemoci.

The enzyme therapy with Ceredase in patients with Gaucher's disease is at present probably the most expensive treatment in the whole world. One-year treatment of an adult patient with Gaucher's disease costs more than 7 million crowns. Indications for treatment in individual patients as well as financial provisions are so far problematic in the Czech Republic. From a total of 28 patients of varying age with Gaucher's disease diagnosed by the authors Ceredase was administered to two boys with a severe course of the disease. Within one year of treatment the health status of both children improved, growth became normal, the spleen diminished in size by 20-35%, haematological manifestations of hypersplenism are receding, there was a 32-46% decline of the activity of serum chitotriosidase and biochemical parameters of the disease improved.