Child Neurology: -Related Dystonia in a Young Child With Worsening Gait Abnormality.

gene-related dystonia (DYT-KMT2B) is a primarily childhood-onset movement disorder that usually starts with lower limb dystonia progressing into generalized dystonia. Our patient described in this study experienced difficulty gaining weight, laryngomalacia, and feeding difficulties during infancy and later developed gait difficulties, frequent falls, and toe walking. Gait assessment revealed prominent bilateral intoeing, intermittent ankle inversion, and extension of left leg.

[Neonatal Behçet Disease].

Background: Behçet's disease is a multi-system disease with inflammatory infestations, in particular of the small and middle arteries and veins. Histologically, the disease presents with the image of leukocytoclastic vasculitis. The etiology of Behçet disease is unknown, but genetic factors are discussed of playing a role in its pathogenesis.

Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3).

Unlabelled: Juvenile neuronal ceroid lipofuscinosis (JNCL) is a fatal lysosomal storage disease caused by autosomal-recessive mutations in CLN3 for which no treatment exists. Symptoms appear between 5 and 10 years of age, beginning with blindness and seizures, followed by progressive cognitive and motor decline and premature death (late teens to 20s). We explored a gene delivery approach for JNCL by generating two self-complementary adeno-associated virus 9 (scAAV9) constructs to address CLN3 dosage effects using the methyl-CpG-binding protein 2 (MeCP2) and β-actin promoters to drive low versus high transgene expression, respectively.

The efficacy of montelukast in the treatment of cat allergen-induced asthma in children.

Background: Montelukast is a leukotriene antagonist approved for the treatment of childhood asthma in children age 2 years and older. There are limited studies on its effects on allergic asthma in children.

Objective: We sought to evaluate montelukast's effects on upper and lower airway responses to intense cat allergen exposure.

A controlled trial of immunotherapy for asthma in allergic children.

Background: Injections of allergens are widely prescribed for patients with asthma, but little is known about the effectiveness of immunotherapy.

Methods: We conducted a double-blind, placebo-controlled trial of multiple-allergen immunotherapy in 121 allergic children with moderate-to-severe, perennial asthma. The children, who required daily medication for their asthma, were randomly assigned to receive subcutaneous injections of either a mixture of up to seven aeroallergen extracts or a placebo.