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Unclear symptoms--fatal outcome.

Urosepsis during the first months of life is not entirely uncommon and occurs most frequently in boys, mainly due to urogenital abnormalities (1). Posterior urethral valves, which only occur in boys, manifest themselves in different ways, and when detected pre-natally a pronounced hydronephrosis is an indication for prenatal drainage (2). Postna-tally, urosepsis may be the first symptom – if th...

An unclear, chronic nasal ulcer

A 44-year-old Brazilian man presented with an eight-month history of runny nose, hoarseness and progressive gingival swelling, which interfered greatly with nourishment and oral hygiene. The nasal lesion had appeared three years previous to his visit, while the gingival lesions had been present for a few months. The patient had been already seen by general practitioners and dentists and had rec...

Cytokines and sleep - still an unclear relationship.

Wakefulness and sleep-wake-regulation are complex states, a lot of different components and regulatory mechanisms contribute to these functions. One of the factors involved in sleep wake regulation is the immune system, itself being highly complex, consisting of humoral and cellular components. Molecules that transport the information are, beside others, the “immunotransmitters”, the cytokines....

Occupation Therapy

Evaluating LRRK2 Genetic Variants with Unclear Pathogenicity

Mutations in the leucine-rich repeat kinase 2 (LRRK2) have been known to be a major genetic component affecting Parkinson's disease (PD). However, the pathogenicity of many of the LRRK2 variants is unclear because they have been detected in single patients or also in patients and controls. Here, we selected 5 exonic variants (L1165P, T1410M, M1646T, L2063X, and Y2189C) from each of the protein ...