Child Neurology: Severe -Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.

Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.

Evaluation of fabric-based pneumatic actuator enclosure and anchoring configurations in a pediatric soft robotic exosuit.

Introduction: Soft robotics play an increasing role in the development of exosuits that assist, and in some cases enhance human motion. While most existing efforts have focused on the adult population, devices targeting infants are on the rise. This work investigated how different configurations pertaining to fabric-based pneumatic shoulder and elbow actuator embedding on the passive substrate of an exosuit for pediatric upper extremity motion assistance can affect key performance metrics.

Insulin sensitivity and skeletal muscle mitochondrial respiration in Black and White women with obesity.

Objectives: Non-Hispanic black women (BW) have a greater risk of type 2 diabetes (T2D) and insulin resistance (IR) compared to non-Hispanic white women (WW). The mechanisms leading to these differences are not understood, and it is unclear whether synergistic effects of race and obesity impact disease risk. To understand the interaction of race and weight, hepatic and peripheral IR were compared in WW and BW with and without obesity.

Do Demand-Withdrawal Communication Patterns During Sexual Conflict Predict Couples' Relationship Satisfaction, Sexual Satisfaction, and Sexual Distress? An Observational and Prospective Study.

Sexual conflict is common, yet it is one of the most challenging topics for couples because it provokes more negative emotions relative to other conflicts. Such challenges might prompt couples to rely on less adaptive sexual communication styles. Communication patterns during sexual conflict - such as demand-withdrawal - have received little attention, and studies that do exist relied on self-report measures.

Electroencephalogram rhythmic and arrhythmic spectral components and functional connectivity at resting state may predict the development of synucleinopathies in idiopathic rapid eye movement sleep behavior disorder.

Study Objectives: Idiopathic/isolated rapid eye movement-sleep behavior disorder (iRBD) often precedes the onset of synucleinopathies. Here, we investigated whether baseline resting-state EEG advanced spectral power and functional connectivity differed between iRBD patients who converted towards a synucleinopathy at follow-up and those who did not.

Methods: Eighty-one participants with iRBD (66.