Factor VIII and vWF deficiency in STT3A-CDG.

STT3A-CDG (OMIM# 615596) is an autosomal recessive N-linked glycosylation disorder characterized by seizures, developmental delay, intellectual disability, and a type I carbohydrate deficient transferrin pattern. All previously reported cases (n = 6) have been attributed to a homozygous pathogenic missense variant c.1877C>T (p.

Upper limb strength: study providing normative data for a clinical handheld dynamometer.

Objective: To establish normative clinical data for upper extremity strength of men and women, ages 20-64 years, using a portable clinical device, the Nicholas Manual Muscle Tester (NMMT).

Design: The study collected objective upper extremity strength data for 180 healthy men and women using the NMMT.

Setting: The study was conducted in outpatient and community settings.

The effect of oxandrolone on the healing of chronic pressure ulcers in persons with spinal cord injury: a randomized trial.

Background: Anabolic steroids have been reported to improve wound healing.

Objective: To determine whether oxandrolone increases the percentage of target pressure ulcers (TPUs) that heal compared with placebo and whether healed ulcers remain closed 8 weeks after treatment.

Design: Parallel-group, placebo-controlled, randomized trial conducted from 1 August 2005 to 30 November 2008.