Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C.

 Blockade of tumour necrosis factor (anti-TNF) is effective in patients with Crohn's Disease but has been associated with infection risk and neurological complications such as demyelination. Niemann-Pick disease Type C1 (NPC1) is a lysosomal storage disorder presenting in childhood with neurological deterioration, liver damage and respiratory infections. Some NPC1 patients develop severe Crohn's disease.

Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome.

Background: Neonatal diabetes with congenital hypothyroidism (NDH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLI-similar 3 coding gene . Almost 20 patients have been reported to date, with significant phenotypic variability.

Case Presentation: We describe a boy with a homozygous deletion (exons 5-9) in the gene, who presents novel clinical aspects not reported previously.

The Ages and Stages Questionnaire: Latent factor structure and growth of latent mean scores over time.

Background: Very little research exists that looks at the Ages and Stages Questionnaire simultaneously from a modern latent variable point of view and by looking at its psychometric properties over time.

Aims: To explore the latent factor structure of the ASQ using Exploratory Structural Equation Modeling techniques for ordinal data and investigate its change over time using the method of vertical scaling from multidimensional Item Response Theory.

Study Design: Longitudinal, with the same children being assessed at multiple timepoints.

Early developmental outcomes predicted by gestational age from 35 to 41weeks.

Background: Recent studies have indicated that children born only a few weeks earlier than their due date experience more health and cognitive problems than previously realized.

Aims: Our study investigated whether gestational age (GA) at birth (35-41weeks) predicted developmental outcomes at 8, 12, 20, or 24months of age.

Study Design: Archival records of developmental screening scores collected between 2006 and 2012 were analyzed using negative binomial and logistic regressions models.

Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation.

Context: Type 1 diabetes mellitus (T1DM) is caused by autoimmunity against pancreatic β-cells. Although a significant number of T1DM patients have or will develop further autoimmune disorders during their lifetime, coexisting severe immunodysregulation is rare.

Objective: Presuming autosomal-recessive inheritance in a complex immunodysregulation disorder including T1DM and short stature in two siblings, we performed whole-exome sequencing.

Balloon gastrostomy buttons in pediatric patients: evaluation with respect to size, lifetime in patients, and parent acceptance.

Background And Objective: To evaluate the experience with "balloon" gastrostomy buttons in pediatric patients. Distributions of the shaft lengths and the longevity of the balloon tubes were examined. Parents' and caregivers' opinion about this type of tube were analysed.

Infants' formation and use of categories to segregate objects.

Four- and-a-half-month-old infants' (N = 100) category formation and use was studied in a series of five experiments. For each experiment, the test events featured a display composed of a cylinder and a box. Previous research showed that this display is not clearly parsed as a single unit or as two separate units by infants of this age.