Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations.

Context: In most patients with hypoparathyroidism (HP), the etiology is not defined clinically. Eight genes (AIRE, CASR, CLDN16, GATA3, GCM2, PTH, TBCE, and TRPM6) are known to be responsible genes associated with HP; however, no previous study has screened the eight responsible genes comprehensively in HP patients.

Objectives: This study was conducted to determine the genetic defect in HP patients.

Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum.

L1CAM molecule is a cell adhesion molecule in nervous and enteric systems and is responsible for X-linked hydrocephalus (XLH) spectrum, which is a rare condition with severe congenital hydrocephalus, dysgenesis of the corpus callosum, intellectual disability, spasticity, and adducted thumbs. Several cases of XLH accompanied by Hirschsprung disease (HSCR) have been reported in the literature, but whether HSCR results from a gain-of-function mutation in cases with XLH, i.e.

Meningitis and septicemia caused by nontypeable Haemophilus influenzae in a previously healthy 2-year-old girl.

Nontypeable Haemophilus influenzae (NTHi) commonly colonizes the upper respiratory tract of children and causes otitis media, sinusitis, and bronchitis. Invasive NTHi diseases such as meningitis and septicemia have rarely been reported, especially in children with underlying predisposing conditions such as head trauma and immune compromise. However, we report a previously healthy 2-year-old girl who developed meningitis and septicemia caused by NTHi biotype ΙΙΙ.

Eating disorders with binge-eating behaviour are associated with the s allele of the 3'-UTR VNTR polymorphism of the dopamine transporter gene.

Objective: The dopaminergic system is associated with feelings of pleasure and reward and with positive hedonic processes related to food, sexual activity and certain substances. Because it is recognized that patients who have eating disorders with binge-eating behaviour have a high comorbidity of substance dependence, we examined the association between the variable number of tandem repeats (VNTR) polymorphism in the 3; untranslated region of the dopamine transporter gene (DAT1) and eating disorders with binge-eating behaviour.

Methods: The subjects were 90 female Japanese patients with eating disorders diagnosed using DSM-IV; they were compared with 115 healthy female controls.