Incidental finding of a exons 48-55 deletion during prenatal diagnosis.

Background: genetic variants cause a spectrum of phenotypes, from severe progressive proximal muscle weakness and degeneration leading to wheelchair dependence and death from cardiac and/or respiratory failure to very mild muscular phenotypes; very rarely, cases are completely asymptomatic. Few cases have been reported in males carrying deletions who are asymptomatic.

Methods: Family clinical information was collected from the patients.

Fatigue-Limit Assessment via Infrared Thermography for a High-Strength Steel.

Infrared thermography techniques have proven to be very effective for assessing the fatigue limits of metallic materials with obvious temperature variations. But for some materials, it has been shown that the temperature variation is very limited, and the accuracy of infrared thermographic techniques is not verified. In this study, the fatigue properties of a high-strength steel (SAE52100) were evaluated with traditional fatigue-loading techniques and infrared thermographic methods.

Application of the Single-Molecule Real-Time Technology (SMRT) for Identification of HKαα Thalassemia Allele.

Objective: Single-molecule real-time technology (SMRT) is a sequencing technology using the DNA polymerases and fluorescently tagged nucleotides to accurately sequence DNA strands. The purpose of this study was to evaluate the detection accuracy of SMRT for identification of the Hong Kongαα (HKαα) thalassemia allele.

Methods: We conducted a blinded study of 33 samples of known HKαα alleles.