Feasibility of a Respiratory Movement Evaluation Tool to Quantify Thoracoabdominal Movement for Neuromuscular Diseases.

Background: An objective method to evaluate thoracoabdominal movement is needed in daily clinical practice to detect patients at risk of hypoventilation and to allow for timely interventions in neuromuscular diseases. The clinical feasibility, reliability, and validity of a newly developed method for quantifying respiratory movement using fiber grating sensors, called the Respiratory Movement Evaluation Tool (RMET), was evaluated.

Methods: The time needed to measure respiratory movement and the usability of the measurement were determined by 5 clinicians using the Quebec User Evaluation of Satisfaction with Assistive Technology (QUEST) 2.

A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy.

Fukuyama-type congenital muscular dystrophy (FCMD) is characterized by congenital muscular dystrophy in combination with central nervous system (CNS) abnormalities. Differential diagnosis of FCMD from Duchenne and Becker muscular dystrophies (DMD/BMD) or other types of congenital muscular dystrophy is occasionally difficult, because of their phenotypic similarity. The gene (FCMD) responsible for FCMD at 9q31 was isolated in 1998.

Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q.

We report on a 28-year-old man with trisomy 7q34-qter and monosomy 15q26.3-qter caused by a paternal balanced chromosomal translocation, t(7;15)(q34;q26.3).

[Proposal for a new method for evaluation of physical exercise capacity in patients with chronic respiratory disease].

We developed a new method of evaluating the tolerance for physical exercise in patients with chronic respiratory disease. Using a newly developed portable pulse oxymeter, with which we could measure kinetic energy (physical activity), calculated from the vertical acceleration involved in physical movements in the patient's daily life, we considered the correlation between the characteristics of the distribution of oxygen saturation (SpO2) and the degree of physical activity. The characteristics of SpO2 distribution in normal healthy subjects are uniform at all degrees of physical activity.