Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.

Mutations in the nuclear gene DGUOK, encoding deoxyguanosine kinase, cause an infantile hepatocerebral type of mitochondrial depletion syndrome (MDS). We report 6 MDS patients harboring bi-allelic DGUOK mutations, of which 3 are novel, including a large intragenic Austrian founder deletion. One patient was diagnosed with hepatocellular carcinoma aged 6 months, supporting a link between mitochondrial DNA depletion and tumorigenesis; liver transplantation proved beneficial with regard to both tumor treatment and psychomotor development.

Weight and body mass index (BMI): current data for Austrian boys and girls aged 4 to under 19 years.

BACKGROUND: BMI reference charts are widely used to diagnose overweight, obesity and underweight in children and adolescents. AIM: To provide up-to-date national reference values for Austria. METHODS: A cross-sectional sample of over 14 500 children and adolescents (4-19 years) stratified by provinces according to age- and sex-specific population proportions was drawn via schooling institutions (kindergartens, schools and vocational colleges). The generalized additive models for location, scale and shape were used for a flexible estimation of percentile curves. RESULTS: Austrian boys and girls have higher average weight compared with previous prevalence data. BMI centiles matching BMI values at age 18 years, which are used for defining thinness, overweight and obesity in adults, were calculated. In Austria, using reference values as thresholds, ∼18% of boys and 12% of girls are overweight (with thresholds passing through BMI 25.00-29.99 kg/m(2) in adults) and 5% of boys and 3% of girls are obese (with thresholds passing through BMI ≥30.00 kg/m(2) in adults). CONCLUSION: Overweight and obesity are common in Austria and their prevalence is increasing (using the same IOTF reference for international comparison). Up-to-date national BMI reference values are provided to classify children and adolescents according to the proposed overweight and obesity thresholds.

Classification of sudden infant death (SID) cases in a multidisciplinary setting. Ten years experience in Styria (Austria).

OBJECTIVE: Sudden infant death syndrome (SIDS) remains a challenge for health professionals despite decreasing rates in recent years. The figures for different areas and time periods are hardly comparable, because of differences in postmortem investigations and classification criteria. In 1992, the European Society for the Study and Prevention of Infant Deaths (ESPID) proposed a classification for any sudden and unexpected death in infancy. This proposal has been used in our study since 1993 to better classify sudden infant death (SID) cases. METHOD: 56 consecutive SID cases observed between 1993 and 2002 in Styria, the south-eastern province of Austria, were analysed by a multidisciplinary team of health professionals. The study group consisted of pediatricians, forensic pathologists, pathologists, psychologists, nurses, members of the parents' association and health authorities. SID cases were analysed with regard to potential risk factors during pregnancy and early life, the circumstances of death (death scene) and post-mortem findings. From the latter, every SID was classified as either 1) classic SIDS, 2) borderline SIDS, 3) non-autopsied SID or 4) explained death. RESULTS: Of the 56 SID cases, 22 were assigned to category 1, 19 to category 2, four to category 3, and in 11 cases death could be explained by major post-mortem findings. For 17/22 cases in category 1 and 11/19 cases in category 2, the death scene investigation showed the typical risk profile of manner of bedding and/or environmental conditions. In three cases, child abuse or infanticide was considered possible but could not be proven despite careful autopsy. In recent years, SIDS incidence in Styria has decreased to approximately 0.18/1,000 live-born infants, and the few deaths still occurring mainly present with the typical risk profile. CONCLUSION: An extensive analysis of SID events is a prerequisite for reliable and comparable SIDS statistics. Our data show that in several SID cases careful post-mortem examinations led to an explanation of death. In other cases, minor alterations may have contributed to the lethal event. These findings should therefore be considered in the classification of SIDs. The ESPID classification of 1992 appears to be very useful for this purpose and its use may therefore be recommended.