Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.

Pathogenic variants in CWF19L1 lead to a rare autosomal recessive form of hereditary ataxia with only seven cases reported to date. Here, we describe four additional unrelated patients with biallelic variants in CWF19L1 (age range: 6-22 years) and provide a comprehensive review of the literature. The clinical spectrum was broad, including mild to profound global developmental delay; global or motor regression in infancy or adolescence; childhood-onset ataxia and cerebellar atrophy; and early-onset epilepsy.

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.

The prevalence of germ line mutations in non-BRCA1/2 genes associated with hereditary breast cancer (BC) is low, and the role of some of these genes in BC predisposition and pathogenesis is conflicting. In this study, 5589 consecutive BC index patients negative for pathogenic BRCA1/2 mutations and 2189 female controls were screened for germ line mutations in eight cancer predisposition genes (ATM, CDH1, CHEK2, NBN, PALB2, RAD51C, RAD51D, and TP53). All patients met the inclusion criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for germ line testing.

Drug distribution in nanostructured lipid particles.

The targeted design of nanoparticles for efficient drug loading and defined release profiles is even after 25years of research on lipid-based nanoparticles still no routine procedure. It requires detailed knowledge about the interaction of the drug with the lipid compounds and about its localisation and distribution in the nanoparticle. We present here an investigation on nano-sized lipid particles (NLP) composed of Gelucire and Witepsol as solid lipids, and Capryol as liquid lipid, loaded with Dexamethasone, a glucocorticoid used in topical treatment of inflammatory dermal diseases.

Effects on detection of radical formation in skin due to solar irradiation measured by EPR spectroscopy.

In various research projects, oxidative stress in irradiated skin was investigated by measuring the production of free radical using EPR spectroscopy. However, comparison of the obtained measuring results proved to be difficult as different preparation parameters were used for those measurements. In the present study the influence of the preparation parameters on the detected radical production was methodically investigated.

Influence of repressive coping style on cortical activation during encoding of angry faces.

Background: Coping plays an important role for emotion regulation in threatening situations. The model of coping modes designates repression and sensitization as two independent coping styles. Repression consists of strategies that shield the individual from arousal.

High responsivity to threat during the initial stage of perception in repression: a 3 T fMRI study.

Repression designates coping strategies such as avoidance, or denial that aim to shield the organism from threatening stimuli. Derakshan et al. have proposed the vigilance-avoidance theory of repressive coping.