Can the consequences of universal cholesterol screening during childhood prevent cardiovascular disease and thus reduce long-term health care costs?

The National Heart, Lung, and Blood Institute (NHLBI) Expert Panel in the United States (US) recently published its report, Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents. The Panel's goals were to develop comprehensive, evidence-based strategies for use by general practitioners in the primary and primordial prevention of cardiovascular disease (CVD). These Guidelines have been endorsed by the American Academy of Pediatrics. Many of the recommendations restate existing lifestyle guidance similar to those proposed by the Committee on Nutrition in 2008. However a debate has emerged because for the first time, universal and comprehensive childhood dyslipidemia screening and treatment is now recommended by these new Guidelines. Because of universal screening, dyslipidemia attributed to both lifestyle and genetic factors could potentially be ascertained. The recommendations to screen for serum lipids and glucose have stimulated heated discussions among pediatricians, subspecialists, and policy-makers. This commentary discusses the medical, psychosocial and economic benefits and risks of universal cholesterol screening in children

Management of Pediatric Trauma.

Injury is still the number 1 killer of children ages 1 to 18 years in the United States (http://www.cdc.gov/nchs/fastats/children.htm). Children who sustain injuries with resulting disabilities incur significant costs not only for their health care but also for productivity lost to the economy. The families of children who survive childhood injury with disability face years of emotional and financial hardship, along with a significant societal burden. The entire process of managing childhood injury is enormously complex and varies by region. Only the comprehensive cooperation of a broadly diverse trauma team will have a significant effect on improving the care of injured children

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

International audiencePurpose:CACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Heterozygous variants in CACNA1C have previously been reported in association with Timothy syndrome and long QT syndrome. Several case reports have suggested that CACNA1C variation may also be associated with a primarily neurological phenotype.Methods:We describe 25 individuals from 22 families with heterozygous variants in CACNA1C, who present with predominantly neurological manifestations.Results:Fourteen individuals have de novo, nontruncating variants and present variably with developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy. Functional studies of a subgroup of missense variants via patch clamp experiments demonstrated differential effects on channel function in vitro, including loss of function (p.Leu1408Val), neutral effect (p.Leu614Arg), and gain of function (p.Leu657Phe, p.Leu614Pro). The remaining 11 individuals from eight families have truncating variants in CACNA1C. The majority of these individuals have expressive language deficits, and half have autism.Conclusion:We expand the phenotype associated with CACNA1C variants to include neurodevelopmental abnormalities and epilepsy, in the absence of classic features of Timothy syndrome or long QT syndrome