Novel Insights: A Novel PHIP Variant in a Family with Severe Early-Onset Obesity.

Introduction: Severe childhood obesity can be caused by pathogenic variants in several genes involved in monogenic and syndromic obesity. Recently, heterozygous variants in pleckstrin homology domain interacting protein (PHIP) have been identified in patients with obesity as part of Chung-Jansen syndrome.

Case Presentation: The index patient is a 5-year-old boy with severe obesity since 1 year of age, developmental delay, facial dysmorphism, and behavior problems.

Prenatal substance exposure, adverse childhood experiences and diagnosed mental and behavioral disorders - A longitudinal register-based matched cohort study in Finland.

Both prenatal substance exposure (PSE, alcohol/drugs) and experiences during the first years of life have powerful effects on brain development. However, only a few studies have investigated the combined effect of PSE and adverse childhood experiences (ACEs) on mental and behavioral disorders among exposed adolescents and adults. This longitudinal register-based cohort study 1) compared the nature and extent of diagnosed mental and behavioral disorders among youth with PSE and matched unexposed controls, and 2) investigated the influence of PSE, health in infancy and ACEs (maternal risk factors and out-of-home care, OHC) on diagnoses of mental and behavioral disorders.

Regulation of spontaneous eosinophil apoptosis-a neglected area of importance.

Asthma is characterized by the accumulation of eosinophils in the airways in most phenotypes. Eosinophils are inflammatory cells that require an external survival-prolonging stimulus such as granulocyte macrophage-colony-stimulating factor (GM-CSF), interleukin (IL)-5, or IL-3 for survival. In their absence, eosinophils are programmed to die by spontaneous apoptosis in a few days.

Effect of a pre-screening survey on attendance in colorectal cancer screening: a double-randomized study in Finland.

Objectives: To explore effects of a pre-screening life style survey on the subsequent attendance proportion in colorectal cancer screening.

Setting: Finnish colorectal cancer screening programme in 2011.

Design: Double randomized and controlled follow-up design.

Enhanced expression of neuropeptide S (NPS) receptor in eosinophils from severe asthmatics and subjects with total IgE above 100IU/ml.

Eosinophils are inflammatory cells of particular relevance to asthma exacerbations. Neuropeptide S (NPS) receptor was identified in a search for asthma susceptibility genes, where the risk haplotypes of the NPS receptor gene associated with total serum IgE above 100IU/ml and asthma. The aim of the present study was to investigate and compare expression of NPS receptor in human peripheral blood eosinophils derived from subjects with total serum IgE above and below 100IU/ml and patients with different phenotypes of asthma.

Statin use is associated with improved prostate cancer survival: is it time for a clinical trial?

Recent studies have reported an inverse association between statin use and risk of advanced prostate cancer. Thus, it is possible that statin exposure delays progression of prostate tumors to an advanced stage. The study by Gutt and colleagues gives two important contributions to this field of research.