[Light and Shadow of Hyperuricemia - Neuroprotection, Comorbidities and Therapeutic Strategies]. / Licht und Schatten der Hyperurikämie: Neuroprotektion, Komorbiditäten und Therapiestrategien໿.

Light and Shadow of Hyperuricemia - Neuroprotection, Comorbidities and Therapeutic Strategies Abstract. Hyperuricemia can lead to gout but also favor the appearance of comorbidities like hypertension, kidney insufficiency, type 2 diabetes, myocardial infarction and strokes. Uric acid does not only have, however, negative impact on the body, but seems to influence positively certain inflammatory and degenerative neurological diseases. The inflammatory reaction at the center of a gout attack is mediated by interleukin 1. Therefore, antagonists against interleukin 1 or IL-1 receptors can be used for treatment if colchicine, steroids or nonsteroidal anti-inflammatory drugs are ineffective or contraindicated. First-line drug for urate-lowering therapy is allopurinol that positively influences comorbidities as well.

[CME: Acquired Hemophagocytic Lymphohistiocytosis]. / CME: Sekundäre hämophagozytische Lymphohistiozytose.

CME: Acquired Hemophagocytic Lymphohistiocytosis Abstract. Acquired hemophagocytic lymphohistiocytosis comprises a heterogenous group of hyperinflammatory immunoreactions often resulting in uncontrolled immune responses, mainly throughout proliferation of cytotoxic T cells and hemophagocytosis by macrophages. Hemophagocytic lymphohistiocytosis is often underdiagnosed, contributing to its high morbidity and mortality. A systematic diagnostic approach and the use of established diagnostic criteria should lead to an early diagnosis, which is crucial for any therapeutic attempt to achieve a curative state of the disease.

Iatrogenic and sporadic Creutzfeldt-Jakob disease in 2 sisters without mutation in the prion protein gene.

Human genetic prion diseases have invariably been linked to alterations of the prion protein (PrP) gene PRNP. Two sisters died from probable Creutzfeldt-Jakob disease (CJD) in Switzerland within 14 y. At autopsy, both patients had typical spongiform change in their brains accompanied by punctuate deposits of PrP. Biochemical analyses demonstrated proteinase K-resistant PrP. Sequencing of PRNP showed 2 wild-type alleles in both siblings. Retrospectively, clinical data revealed a history of dural transplantation in the initially deceased sister, compatible with a diagnosis of iatrogenic CJD. Clinical and familial histories provided no evidence for potential horizontal transmission. This observation of 2 siblings suffering from CJD without mutations in the PRNP gene suggests potential involvement of non-PRNP genes in prion disease etiology.