Effect of baby swimming and baby lotion on the skin barrier of infants aged 3-6 months.

BACKGROUND: Skin care is important especially in infancy as the skin barrier matures during the first year of life. We studied the effects of baby swimming and baby lotion on the skin barrier function of infants. SUBJECTS AND METHODS: 44 infants aged 3-6 months were included in this mono-center prospective study. The healthy infants swam four times and were randomized to group(L) : baby lotion was applied after swimming all over the body and to group(WL) : no lotion was used. Transepidermal water loss, stratum corneum hydration, skin-pH and sebum were measured on four body regions using non-invasive methods. RESULTS: In group(L), sebum and pH remained stable. In group(WL), significant decrease in sebum was noted on forehead and thigh, and for pH on thigh and buttock. Group(L) had fewer infants with at least one adverse event compared to group(WL). Location-dependent gender differences in skin barrier function were observed. CONCLUSIONS: Reaction of skin barrier function to baby swimming and skin care regimens showed typical regional variability between body areas. Influence of baby lotion on skin barrier and gender differences in skin functional parameters were demonstrated for the first time in healthy infants participating in baby swimming.

Interferons Transcriptionally Up-Regulate MLKL Expression in Cancer Cells.

Interferons (IFNs) are key players in the tumor immune response and act by inducing the expression of IFN-stimulated genes (ISGs). Here, we identify the mixed-lineage kinase domain-like pseudokinase (MLKL) as an ISG in various cancer cell lines. Both type I and type II IFNs increase the expression of MLKL indicating that MLKL up-regulation is a general feature of IFN signaling. IFNγ up-regulates mRNA as well as protein levels of MLKL demonstrating that IFNγ transcriptionally regulates MLKL. This notion is further supported by Actinomycin D chase experiments showing that IFNγ-stimulated up-regulation of MLKL is prevented in the presence of the transcriptional inhibitor Actinomycin D. Also, knockdown of the transcription factor IFN-regulatory factor 1 (IRF1) and signal transducer and activator of transcription (STAT) 1 as well as knockout of IRF1 significantly attenuate IFNγ-mediated induction of MLKL mRNA levels. Up-regulation of MLKL by IFNγ provides a valuable tool to sensitize cells towards necroptotic cell death and to overcome apoptosis resistance of cancer cells.

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.

Cone-rod dystrophies (CORDs) represent a heterogeneous group of monogenic diseases leading to early impairment of vision. The majority of CORD entities show autosomal modes of inheritance and X-linked traits are comparably rare. So far, three X-chromosomal entities were reported (CORDX1, -X2 and -X3). In this study, we analysed a large family of German origin with solely affected males over three generations showing a CORDX-like phenotype. Due to the heterogeneity of cone-rod dystrophies, we performed a combined linkage and X-exome sequencing approach and identified a novel large intragenic in-frame deletion encompassing exons 18 to 26 within the CACNA1F gene. CACNA1F is described causative for CORDX3 in a single family originating from Finland and alterations in this gene have not yet been reported in other CORDX pedigrees. Our data independently confirm CACNA1F as the causative gene for CORDX3-like phenotypes and detailed clinical characterization of the family expands the knowledge about the phenotypic spectrum of deleterious CACNA1F alterations.