Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by lower lip pits and orofacial clefts (OFCs). With a prevalence of approximately 1 in 35,000 live births, it is the most common form of syndromic clefting and may account for ~2% of all OFCs. The majority of VWS is attributed to genetic variants in IRF6 (~70%) or GRHL3 (~5%), leaving up to 25% of individuals with VWS without a molecular diagnosis.

In ovo delivery of carvacrol triggers expression of chemotactic factors, antimicrobial peptides and pro-inflammatory pathways in the yolk sac of broiler chicken embryos.

Background: Broiler chickens are most vulnerable immediately after hatching due to their immature immune systems, making them susceptible to infectious diseases. The yolk plays an important role in early immune defence by showing relevant antioxidant and passive immunity capabilities during broiler embryonic development. The immunomodulatory effects of phytogenic compound carvacrol have been widely reported.

Rare germline structural variants increase risk for pediatric solid tumors.

Pediatric solid tumors are a leading cause of childhood disease mortality. In this work, we examined germline structural variants (SVs) as risk factors for pediatric extracranial solid tumors using germline genome sequencing of 1765 affected children, their 943 unaffected parents, and 6665 adult controls. We discovered a sex-biased association between very large (>1 megabase) germline chromosomal abnormalities and increased risk of solid tumors in male children.

Socio-demographic factors related to children's knowledge about their rights to healthcare services in transitional Albania.

Background: Our aim was to assess the level and socio-demographic correlates of knowledge about rights to healthcare services among children in post-communist Albania in order to inform targeted interventions and policies to promote equitable healthcare access for all children.

Methods: An online survey conducted in Albania in September 2022 included a nationwide representative sample of 7,831 schoolchildren (≈54% girls) aged 12-15 years. A structured and anonymous questionnaire was administered inquiring about children's knowledge on their rights to healthcare services.

Manure odor profiling for flock-level monitoring on commercial layer pullet farms: Vaccination events as a model stressor.

Continuous, non-invasive, and objective methods to detect flock-level responses to stressors, including intestinal health deviations, are currently lacking in poultry. This proof of principle study investigated the potential of manure odor profiling in monitoring stress responses in Lohmann Brown Classic, Lohmann LSL Classic and Lohmann LSL Lite layer pullets. Stressors were represented by a Salmonella vaccination given to the pullets at wk 3 of age (Dataset 1 and Dataset 2) and wk 16 of age (Dataset 4) and a viral/bacterial vaccine cocktail given at wk 12 of age (Dataset 3).