Brain calcification in congenital heart defects and ectodermal dysplasia (CHDED).

Congenital Heart Defect and Ectodermal Dysplasia (CHDED) is an autosomal dominant disorder caused by the PRKD1 gene. CHDED is characterized by heart defects and ectodermal dysplasia. To date, eight patients with CHDED have been described.

Lower limb biomechanics and control of center of mass during turning phases in daily gait.

This study aims to elucidate the biomechanical characteristics of turning in daily life by analyzing the three-step process of approach, turn, and departure phases. The research involved ten healthy young individuals performing straight walking and 90° turns, categorized into Side-Step (SS) and Cross-Step (CS) turns. Using a 17-camera motion capture system and force plates, the study measured joint angles, moments, and center of mass (COM) variations.

[Importance of early treatment and quantitative evaluation of enzyme replacement therapy for Pompe disease: alglucosidase alfa post-marketing surveillance additional analysis].

We conducted an additional analysis using the data from the post-marketing surveillance of Alglucosidase alfa for Pompe disease. We aimed to investigate the changes in the percentage of predicted forced vital capacity (%FVC) and the changes in the distance of the 6-min walk test (6MWT) by overall improvement and to investigate the %FVC change by the duration from symptom onset to survey registration (shorter/longer groups) using a linear mixed model. Thirty-seven and eighteen survey participants had %FVC and 6MWT data available, respectively; of the patients whose overall improvement was rated as "relatively improved," %FVC and 6MWT worsened in 71.

Region of interest determination algorithm of lensless calcium imaging datasets.

Advances in fluorescence imaging technology have been crucial to the progress of neuroscience. Whether it was specific expression of indicator proteins, detection of neurotransmitters, or miniaturization of fluorescence microscopes, fluorescence imaging has improved upon electrophysiology, the gold standard for monitoring brain activity, and enabled novel methods to sense activity in the brain. Hence, we developed a lightweight and compact implantable CMOS-based lensless Ca2+ imaging device for freely moving transgenic G-CaMP mouse experiments.