Dtsch Arztebl Int
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Genetic mosaics arise through new mutations occurring after fertiliza- tion (i.e., postzygotic mutations). Mosaics have been described in recent years as the cause of many different disorders; many of these are neurocutaneous diseases and syndromal developmental disorders, each with a characteristic phenotype. In some of these disorders, there is a genetic predisposition to the development of tumors. This article is intended as an overview of selected mosaic diseases. ⋯ The possibility of a mosaic disease should be kept in mind in the diag- nostic evaluation of patients with asymmetrical growth disturbances, focal neuronal migration disturbances, vascular malformations, and linear skin abnormalities. The demonstration of a postzygotic mutation often affords relief to the parents of an affected child, since this means that there is no increased risk for recurrence of the same disorder in future children. Correct classification is important, as molecular available for certain mosaic diseases, e.g., PIK3CA-related overgrowth spectrum (PROS) disorder.
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The purpose of palliative medicine is to optimize the quality of life of patients with incurable, progressive diseases. The care delivered in actual clinical practice is not uniform and often takes insufficient account of the currently available scientific evidence. ⋯ Multiple studies have confirmed the benefit of the early integration of palliative care for achieving the goals of better symptom control and maintenance of derate quality of evidence supporting the management of certain symptoms in patients with incurable cancers.
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Urinary tract infections are among the more common types of nosocomial infection in Germany and are associated with catheters in more than 60% of cases. With increasing rates of antibiotic resistance worldwide, it is essential to distinguish catheter-associated asymptomatic bacteriuria from catheter-associated urinary tract infection (CA-UTI). ⋯ Various measures, including careful consideration of the indication for catheterization, leaving catheters in place for the shortest possible time, and the training of nursing personnel, can effectively lower the incidence of CA-UTI. The eous in some respects, and thus no recommendations can be given on certain questions relevant to CA-UTI.