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.

Persistence and toxin production by Clostridium difficile within human intestinal organoids result in disruption of epithelial paracellular barrier function.

Clostridium difficile is the leading cause of infectious nosocomial diarrhea. The pathogenesis of C. difficile infection (CDI) results from the interactions between the pathogen, intestinal epithelium, host immune system, and gastrointestinal microbiota.

Leptin acts independently of food intake to modulate gut microbial composition in male mice.

Shifts in the composition of gut bacterial populations can alter host metabolism and may contribute to the pathogenesis of metabolic disorders, including obesity. Mice deficient in leptin action are obese with altered microbiota and increased susceptibility to certain intestinal pathogens. Because antimicrobial peptides (AMPs) secreted by Paneth cells represent a major mechanism by which the host influences the gut microbiome, we examined the mRNA expression of gut AMPs, several of which were decreased in leptin receptor (LepR)-deficient db/db mice, suggesting a potential role for AMP modulation of microbiota composition.

Community representatives' involvement in Clinical and Translational Science Awardee activities.

Objectives: To understand the formal roles of community representatives (CRs) in Clinical and Translational Science Awardee (CTSA) activities, to evaluate the extent of integration into the organizational and governance structures and to identify barriers to effective integration.

Methods: The inventory tool was distributed to each of the 60 CTSAs using a secure web application.

Results: Forty-seven (78%) completed the inventory.

A funding initiative for community-based participatory research: lessons from the Harvard Catalyst Seed Grants.

Background: The National Institutes of Health-funded Clinical and Translational Science Awards (CTSA) have increasingly focused on community-engaged research and funded investigators for community-based participatory research (CBPR). However, because CBPR is a collaborative process focused on community-identified research topics, the Harvard CTSA and its Community Advisory Board (CERAB) funded community partners through a CBPR initiative.

Objectives: We describe lessons learned from this seed grants initiative designed to stimulate community-academic CBPR partnerships.

Ulcerative typhlocolitis associated with Helicobacter mastomyrinus in telomerase-deficient mice.

Telomerase deficiency induces early senescence and defects in proliferating cell populations, but in mice it has not been associated with inflammatory bowel disease. Genetically engineered mice lacking either telomerase reverse transcriptase (TERT) or telomerase RNA were examined for chronic diarrhea and wasting. Affected mice had pasty stools, thickened nondistensible colon walls, and contracted ceca.

Lack of efficacy of manual therapy in children and adolescents with suspected cervicogenic headache: results of a prospective, randomized, placebo-controlled, and blinded trial.

Objective: Clinical trials concerning cervical spine manipulation and mobilization in children and adolescents with cervicogenic headache are lacking.

Methods: We performed a multicenter, prospective, randomized, placebo-controlled, and blinded trial in 52 children and adolescents (21 boys, 31 girls) aged 7-15. After prospective baseline documentation for 2 months patients were either assigned to placebo or true manipulation with another 2-month follow-up.

Lethal toxin is a critical determinant of rapid mortality in rodent models of Clostridium sordellii endometritis.

The toxigenic anaerobe Clostridium sordellii is an uncommon but highly lethal cause of human infection and toxic shock syndrome, yet few studies have addressed its pathogenetic mechanisms. To better characterize the microbial determinants of rapid death from infection both in vitro and in vivo studies were performed to compare a clinical strain of C. sordellii (DA-108), isolated from a patient who survived a disseminated infection unaccompanied by toxic shock syndrome, to a virulent reference strain (ATCC9714).

Levetiracetam in children with refractory epilepsy: a multicenter open label study in Germany.

Purpose: To evaluate the efficacy and tolerability of Levetiracetam (LEV) in a large pediatric cohort with drug-resistant epilepsy from a prospective multicenter observational study.

Methods: We report the results of a multicenter observational survey of a cohort of 285 pediatric patients (mean: 9.9 years, range: 0; 6-17; 11) with refractory generalized and focal epilepsy who received Levetiracetam as an add-on open label treatment trial.

Oxcarbazepine-induced hyponatremia and the regulation of serum sodium after replacing carbamazepine with oxcarbazepine in children.

While severe hyponatremia is reported to be more frequent in adults treated with oxcarbazepine (OXC) than with carbamazepine (CBZ), there is not sufficient data about the incidence of hyponatremia in childhood during treatment with OXC. We evaluated changes in serum electrolyte balance in 75 children with epilepsy before and during treatment with OXC and after replacing carbamazepine (CBZ) therapy with OXC therapy. All patients had normal sodium serum levels at the onset of OXC.

Interaction between the alpha 2-adrenergic system and nursing in the regulation of growth hormone secretion in the neonatal rat.

Separation of neonatal rats from their mothers decreases, while a subsequent period of suckling (nursing) increases, serum growth hormone (GH) levels in neonatal rats. Milk-borne (humoral) factors and neural factors inherent in mother-offspring interaction have been implicated in these phenomena. Conflicting reports have demonstrated the alpha 2-adrenergic agonist clonidine to increase and to decrease serum GH levels in 10-day-old rats.

Visuomotor coordination during focal and generalized EEG discharges.

A new computer-based method for continuous gauging of momentary, visuomotor coordination under simultaneous EEG control proved both effective and suitable for children. Thirty-eight patients (age 4-17 years) who had different types of hypersynchronous activity were examined: None of the patients with focal discharges showed significant impairment in the test performance. Slight losses were evident in less than 3-s generalized, irregular spike-wave paroxysms.

Homology of a candidate spermatogenic gene from the mouse Y chromosome to the ubiquitin-activating enzyme E1.

The Sxr (sex-reversed) region, a fragment of the Y chromosome short arm, can cause chromosomally female XXSxr or XSxrO mice to develop as sterile males. The original Sxr region, termed Sxra, encodes: Tdy, the primary sex-determining gene; Hya, the controlling or structural locus for the minor transplantation antigen H-Y; gene(s) controlling the expression of the serologically detected male antigen (SDMA); Spy, a gene(s) required for the survival and proliferation of A spermatogonia during spermatogenesis; Zfy-1/Zfy-2, zinc-finger-containing genes of unknown function; and Sry, which is probably identical to Tdy. A deletion variant of Sxra, termed Sxrb, which lacks Hya, SDMA expression, Spy and some Zfy-2 sequences, makes positional cloning of these genes possible.