BACKGROUND AND OBJECTIVES: Current genome-wide association studies of ischemic stroke have focused primarily on late onset disease. As a complement to these studies, we sought to identifythe contribution of common genetic variants to risk of early onset ischemic stroke. METHODS: We performed a meta-analysis of genome-wide association studies of ear...
Tuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterized by a high incidence of epilepsy and neuropsychiatric manifestations known as tuberous-sclerosis-associated neuropsychiatric disorders (TANDs), including autism spectrum disorder (ASD) and intellectual disability (ID). MicroRNAs (miRNAs) are small regulatory non-c...
10.1093/ecco-jcc/jjac063 / JOURNAL OF CROHNS & COLITIS
Toxoplasmosis is a globally distributed disease of warm-blooded animals. It is caused by the opportunistic parasite Toxoplasma gondii (T. gondii). One-third of the global human population is believed to be infected with T. gondii. Cats serve as final host of T. gondii and are the main source of contamination of soil and water. This study aimed to d...
Reproductive parasites such as Wolbachia spread within host populations by inducing cytoplasmic incompatibility (CI). CI occurs when parasite-modified sperm fertilizes uninfected eggs and is typified by great variation in strength across biological systems. In haplodiploid hosts, CI has different phenotypic outcomes depending on whether the fertili...
Purpose: To describe the natural course, phenotype, and genotype of patients with X-linked retinoschisis (XLRS). Design: Retrospective cohort study. Participants: Three hundred forty patients with XLRS from 178 presumably unrelated families. Methods: This multicenter, retrospective cohort study reviewed medical records of patients with XLRS for med...
Different factors such as the genotype, environmental conditions, temperature stress, solar radiation and others can influence the phytochemical status of plants. The concentration of phenolic acids and alkylresorciols (ARs) as well as their chemical composition and biological activity have been determined in twelve winter wheat cultivars grown at ...
The safety and efficacy of pharmacotherapy in children, particularly preterms, neonates and infants, is limited by a paucity of good-quality data from prospective clinical drug trials. A specific challenge is the establishment of valid biomarkers. OMICs technologies may support these efforts by complementary information about targeted and nontarget...
BACKGROUND: Interactions between polymorphisms of the melatonin receptor 1B (MTNR1B) gene and lifestyle intervention for gestational diabetes have been described. Whether these are specific for physical activity or the healthy eating intervention is unknown. OBJECTIVES: The aim was to assess the interaction between MTNR1B rs10830962 and rs10830963 ...
AIM: To describe the evolution of electroencephalogram (EEG) characteristics in infants with tuberous sclerosis complex (TSC) and the relationship with neurodevelopmental outcome at 24 months. METHOD: Eighty-three infants were enrolled in the EPISTOP trial and underwent serial EEG follow-up until the age of 24 months (males n=45, females n=37, medi...
