Genetic testing in nephrotic syndrome may identify heterozygous predicted-pathogenic variants (HPPVs) in autosomal recessive (AR) genes that are known to cause disease in the homozygous or compound heterozygous state. In such cases, it can be difficult to define the variant's true significance and questions remain about whether a second pathogenic variant has been missed during analysis or whether the variant is an incidental finding. There are now known to be over 70 genes associated with nephrotic syndrome, the majority inherited as an AR trait.
View Article and Find Full Text PDFBackground: The health and well-being of children in foster care are of high concern. A resource with which to disrupt maladaptation and promote healing are positive relationships among children and caregivers within the foster home. The research question was: Can an online intervention improve family hardiness and sibling relationships within foster care families?
Objectives: To: (1) establish feasibility and acceptability of an online behavioral intervention within the foster family, (2) explore the effects of the intervention on relational quality outcomes, and (3) decompose the mechanisms driving improved family hardiness through mediation analysis.
There are approximately 500 congenital disorders that impair immune cell development and/or function. Patients with these disorders may present with a wide range of symptoms, including increased susceptibility to infection, autoimmunity, autoinflammation, lymphoproliferation, and/or atopy. Flow cytometry-based immune phenotyping of T and B lymphocytes plays an essential role in the evaluation of patients with these presentations.
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