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Arbeitsmarktintegration - eine Aufgabe der medizinischen Rehabilitation Abhängigkeitskranker?
(2011)
BACKGROUND
Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited.
STUDY DESIGN/METHODS
Clinical and outcome data of 55 patients with propionic acidemia from 16 European metabolic centers were evaluated retrospectively. 35 patients were diagnosed by selective metabolic screening while 20 patients were identified by newborn screening. Endocrine parameters and bone age were evaluated. In addition, IQ testing was performed and the patients' and their families' quality of life was assessed.
RESULTS
The vast majority of patients (>85%) presented with metabolic decompensation in the neonatal period. Asymptomatic individuals were the exception. About three quarters of the study population was mentally retarded, median IQ was 55. Apart from neurologic symptoms, complications comprised hematologic abnormalities, cardiac diseases, feeding problems and impaired growth. Most patients considered their quality of life high. However, according to the parents' point of view psychic problems were four times more common in propionic acidemia patients than in healthy controls.
CONCLUSION
Our data show that the outcome of propionic acidemia is still unfavourable, in spite of improved clinical management. Many patients develop long-term complications affecting different organ systems. Impairment of neurocognitive development is of special concern. Nevertheless, self-assessment of quality of life of the patients and their parents yielded rather positive results.
For the winter 1999/2000 transport of air masses out of the vortex to mid-latitudes and ozone destruction inside and outside the northern polar vortex is studied to quantify the impact of earlier winter (before March) polar ozone destruction on mid-latitude ozone.
Nearly 112 000 trajectories are started on 1 December 1999 on 6 different potential temperature levels between 500–600 K and for a subset of these trajectories photo-chemical box-model calculations are performed. We linked a decline of −0.9% of mid-latitude ozone in this layer occurring in January and February 2000 to ozone destruction inside the vortex and successive transport of these air masses to mid-latitudes.
Further, the impact of denitrification, PSC-occurrence and anthropogenic chlorine loading on future stratospheric ozone is determined by applying various scenarios. Lower stratospheric temperatures and denitrification were found to play the most important role in the future evolution of polar ozone depletion.