Dtsch Arztebl Int
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Systemic amyloidosis is a multi-system disease caused by fibrillary protein deposition with ensuing dysfunction of the affected organ systems. Its diagnosis is often delayed because the manifestations of the disease are variable and non-specific. Its main forms are light chain (AL) amyloidosis and transthyretinrelated ATTR amyloidosis, which, in turn, has both a sporadic subtype (wildtype, ATTRwt) and a hereditary subtype (mutated, ATTRv). ⋯ The diagnosis of amyloidosis is difficult because of its highly varied presentation. In case of clinical suspicion, a rapid, targeted diagnostic evaluation and subsequent initiation of treatment should be performed in a specialized center. When the new drugs to treat amyloidosis become commercially available, their use and effects should be documented in nationwide registries.
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This review concerns the putative benefit of percutaneous coronary intervention (PCI) over optimal medical therapy (OMT) for symptomatic patients with stable angina pectoris, or for asymptomatic persons in whom screening tests have revealed coronary heart disease (CHD; this entity has been newly designated chronic coronary syndrome, or CCS). Moreover, it addresses the question whether the indications for which PCI is now performed in Germany on patients with CCS are consistent with current scientific knowledge. ⋯ Current data imply that PCI for CCS does not improve outcomes in a large percentage of cases. A symptomatic benefit exists only in patients with frequent angina pectoris. The selection of CCS patients for PCI needs to be more strictly bound to the recommendations of current guidelines, particularly in Germany.
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Gallstone disease affects up to 20% of the European population, and cholelithiasis is the most common reason for hospitalization in gastroenterology. ⋯ The timing of treatment for gallstone disease is an essential determinant of therapeutic success.
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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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In Germany, 17-23% of the population suffers from chronic itching of the skin; in 5-10% of cases, the female genitalia are affected, specifically, the vulva. Vulvar pruritus is thus a common symptom that often markedly impairs the affected women's quality of life. ⋯ As vulvar pruritus has multiple causes, standard- ization of its diagnostic evaluation and treatment would be l efficacy and to meet the diverse needs of women who suffer from this condition.