Aims: To investigate the epidemiology and risk factors of apparent life threatening events (ALTE). Methods: A prospective study enrolled all live-born infants in the Tyrol (1993Tyrol ( -2001. Information on pregnancy, sociodemographic characteristics, child care practices, and infant's behaviour in the first four to six weeks of life was collected with a standardised questionnaire, and was available for 44 184 infants. ALTE was identified from hospital admission records. Results: During the study period 164 ALTE cases were identified, corresponding to an incidence of 2.46/ 1000 live births. In 73 of these infants no cause for the event and no comorbidity could be found (idiopathic ALTE). On average ALTE manifested ten weeks earlier than SIDS. Of various SIDS risk factors in the survey area, the prone sleeping position, smoking during pregnancy, low gestational age, profuse night sweating, and family history of infant death showed a moderate relation to the risk of overall ALTE, but only smoking maintained significance in the multivariate risk model. None of these variables was associated with idiopathic ALTE. In contrast to SIDS the frequency of ALTE did not change during the study period. None of the ALTE infants experienced SIDS later in life. Behavioural abnormalities such as feeding difficulties, episodes of pallor, cyanotic episodes, and repeated apnoea episodes were strongly associated with an increased risk of overall and idiopathic ALTE. Conclusions: Although there are some similarities in the clinical presentation and epidemiology of SIDS and ALTE, differences clearly predominate. Accordingly, ALTE and SIDS should not be considered different manifestations of the same disease process.

Objectives: We report here the clinical and genetic features of two new families with autosomal dominant progressive external ophthalmoplegia (adPEO). Patients and methods: The examination of index patients included a detailed clinical characterisation, histological analysis of muscle biopsy specimens, and genetic testing of mitochondrial and nuclear DNA extracted from muscle and leucocytes. Results: Index patients in both families presented with PEO and developed other clinical disease manifestations, such as myopathy and cardiomyopathy (patient 1) and axonal neuropathy, diabetes mellitus, hearing loss, and myopathy (patient 2), later in the course of illness. Both patients had ragged red fibres on muscle histology. Southern blot of mtDNA from muscle of patient 2 showed multiple deletions. In this case, a novel heterozygous missense mutation F485L was identified in the nuclear encoded putative mitochondrial helicase Twinkle. The mutation co-segregated with the clinical phenotype in the family and was not detected in 150 control chromosomes. In the other index patient, sequencing of ANT1, C10orf2 (encoding for Twinkle), and POLG1 did not reveal pathogenic mutations. Conclusions: Our cases illustrate the clinical variability of adPEO, add a novel pathogenic mutation in Twinkle (F485L) to the growing list of genetic abnormalities in adPEO, and reinforce the relevance of other yet unidentified genes in mtDNA maintenance and pathogenesis of adPEO.

Smoking in pregnancy emerged as a risk predictor for adverse neurodevelopmental outcome in our study. Strategies to reduce smoking in pregnancy should be further endorsed.

A pneumothorax (PTX) is a potentially life threatening event during mechanical ventilation. Aim of this study was to analyse 3 different ways of management: expectant treatment, once-only pleural puncture and thoracic drainage.Retrospective data analysis in term and preterm neonates admitted to the NICU of the Medical University of Graz (between 2000-2010) and Innsbruck (2002-2010) who suffered from a PTX during continuous positive airway pressure (CPAP) or conventional mechanical ventilation (CMV).104 neonates, 33 term and 71 preterm neonates with PTX were included. 33 term neonates: 52% were treated expectantly, 36% with thoracic drainage and 12% with once-only pleural puncture (100% thoracic drainage after pleural puncture). 71 preterm neonates: 25% were treated expectantly, 52% with thoracic drainage and 23% with pleural puncture (63% thoracic drainage after pleural puncture). In CPAP-subgroup (n=64), term neonates were treated in 60% expectantly and in 40% with thoracic drain-age, preterm neonates in 33% expectantly, in 47% with thoracic drainage and in 20% with pleural puncture (50% thoracic drainage after pleural puncture). In CMV-subgroup (n=40), term neonates were treated in 44% expectantly, in 33% with thoracic drainage and in 22% with pleural puncture (100% thoracic drainage after pleural puncture), preterm neonates in 9% expectantly, in 64% with thoracic drainage and in 27% with pleural puncture (83% thoracic drain-age after pleural puncture).Present data show that expectant treatment is feasible. If invasive intervention is needed, once-only pleural puncture was not successful, as often thoracic drainage was necessary in addition.