Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the gene across 5 years: Longitudinal data from the Fabry MOPPet Study.

Purpose: This prospective, longitudinal study was designed to determine the natural history of Fabry disease (FD) in early pediatric patients across the disease spectrum.

Methods: In this observational study of children under 5 years of age with variants in the  gene, prospective phenotypic and urinary biomarker data were collected annually over 5 years.

Results: The study population included 40 participants (35 male, 5 female) with variants including 15 with classic pathogenic variants (CFD), 6 with nonclassic pathogenic variants (NFD), and 19 with a variant of uncertain significance.

Parental kinship coefficient but not paternal coloration predicts early offspring growth in lake char.

The 'good genes' hypotheses of sexual selection predict that females prefer males with strong ornaments because they are in good health and vigor and can afford the costs of the ornaments. A key assumption of this concept is that male health and vigor are useful predictors of genetic quality and hence offspring performance. We tested this prediction in wild-caught lake char (Salvelinus umbla) whose breeding coloration is known to reveal aspects of male health.

Fertility Management in Cystinosis: A Clinical Perspective.

Cystinosis is a rare, inherited, lysosomal storage disorder characterized by the progressive accumulation of intralysosomal cystine and subsequent organ and tissue damage. The kidneys are the first and most severely impacted organ. Although cystinosis was once considered a fatal pediatric disease, patients with cystinosis are living well into adulthood with advances in medical care, including kidney transplant and early and continuous use of cysteamine therapy.

Dynamic Emotion Recognition and Social Inference Ability in Traumatic Brain Injury: An Eye-Tracking Comparison Study.

Emotion recognition and social inference impairments are well-documented features of post-traumatic brain injury (TBI), yet the mechanisms underpinning these are not fully understood. We examined dynamic emotion recognition, social inference abilities, and eye fixation patterns between adults with and without TBI. Eighteen individuals with TBI and 18 matched non-TBI participants were recruited and underwent all three components of The Assessment of Social Inference Test (TASIT).

Emotion recognition and eye tracking of static and dynamic facial affect: A comparison of individuals with and without traumatic brain injury.

Unlabelled: Diminished social functioning is often seen after traumatic brain injury (TBI). Mechanisms contributing to these deficits are poorly understood but thought to relate to impaired ability to recognize facial expressions. Static stimuli are often used to investigate ability post-TBI, and there is less evidence using more dynamic stimuli.