Drawing the abdominal pain: A powerful tool to distinguish between organic and functional abdominal pain.

Objectives: Abdominal pain (AP) in children imposes a large economic burden on the healthcare system. Currently, there are no reliable diagnostic tools to differentiate between organic and functional disorders. We hypothesized from previous research that the analysis of patients' graphic expression of subjective symptoms as well as their interactional behavior adds new ways to differentiate between functional and organic AP.

Genotype-phenotype correlation and treatment effects in young patients with -associated disorders.

Background: Patients carrying pathogenic variants in often present with early-onset central hypotonia and global developmental delay, with or without epilepsy. As the disorder progresses, a complex hypertonic and hyperkinetic movement disorder is a common phenotype. A genotype-phenotype correlation has not yet been described and there are no evidence-based therapeutic recommendations.

Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy.

Cav1.3 voltage-gated L-type calcium channels (LTCCs) are involved in cardiac pacemaking, hearing and hormone secretion, but are also expressed postsynaptically in neurons. So far, homozygous loss of function mutations in encoding the Cav1.

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.

Pathogenic variants in , encoding the proline-rich transmembrane protein 2, have been associated with an evolving spectrum of paroxysmal neurologic disorders. Based on a cohort of children with PRRT2-related infantile epilepsy, this study aimed at delineating the broad clinical spectrum of PRRT2-associated phenotypes in these children and their relatives. Only a few recent larger cohort studies are on record and findings from single reports were not confirmed so far.

Landscape of Intercellular Crosstalk in Healthy and NASH Liver Revealed by Single-Cell Secretome Gene Analysis.

Cell-cell communication via ligand-receptor signaling is a fundamental feature of complex organs. Despite this, the global landscape of intercellular signaling in mammalian liver has not been elucidated. Here we perform single-cell RNA sequencing on non-parenchymal cells isolated from healthy and NASH mouse livers.