Comparability of portable and desktop spirometry: a randomized, parallel assignment, open-label clinical trial.

Introduction: Portable spirometers are often perceived as inaccurate. We aimed to evaluate the performance of AioCare®, a new portable spirometer, by comparing it with a reference desktop spirometer.

Materials And Methods: Sixty-two patients diagnosed with asthma or chronic obstructive pulmonary disease performed spirometry examinations on a portable and the reference spirometer.

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report.

Background: In addition to its role in cell adhesion and gene expression in the canonical Wingless/integrated Wnt signaling pathway, β-catenin also regulates genes that underlie the transmission of nerve impulses. Mutations of CTNNB1 (β-catenin) have recently been described in patients with a wide range of neurodevelopmental disorders (intellectual disability, microcephaly and other syndromic features). We for the first time associate CTNNB1 mutation with hyperekplexia identifying it as an additional candidate for consideration in patients with startle syndrome.