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Researchers Discover New Genetic Variants Responsible for Neurodevelopmental Disorders

Date Time Researchers Discover New Genetic Variants Responsible for Neurodevelopmental Disorders Researchers at the Center for Applies Genomics (CAG) at Children’s Hospital of Philadelphia (CHOP) have revealed how variants of a gene responsible for packing and condensing genetic material present a novel cause for certain neurodevelopmental disorders. The findings were published today in Science Advances. Many neurodevelopmental disorders classified as intellectual disabilities are linked to certain genetic variants. Despite this, the underlying molecular mechanism for most of these patients is unknown. In particular, several neurodevelopmental disorders have been linked to pathogenic variants in genes responsible chromatin remodeling, or the rearrangement of the structure of chromosomes that allows for the transcription of DNA into directions to carry out necessary functions of the cells in the body.

Patients who are overweight or obese at risk of more severe COVID-19

 E-Mail IMAGE: Patients who are overweight or obese have more severe COVID-19 and are highly likely to require invasive respiratory support, according to a new international study. view more  Credit: i yunmai Patients who are overweight or obese have more severe COVID-19 and are highly likely to require invasive respiratory support, according to a new international study. The research, led by the Murdoch Children s Research Institute (MCRI) and The University of Queensland and published in Diabetes Care, found obese or overweight patients are at high risk for having worse COVID-19 outcomes. They are also more likely to require oxygen and invasive mechanical ventilation compared to those with a healthy weight.

Kids blood pressure measurements different between arms, potential for misdiagnosis

 E-Mail IMAGE: Blood pressure measurements in children and adolescents should be taken from both arms after new research showed substantial differences could be seen depending on which arm was used. view more  Credit: Marcelo Leal Blood pressure measurements in children and adolescents should be taken from both arms after new research showed substantial differences could be seen depending on which arm was used. The study, led by the Murdoch Children s Research Institute (MCRI) and published in the Journal of Hypertension, found even a small difference in blood pressure measurements between arms could lead to a wrong diagnosis. MCRI PhD candidate and study lead author Melanie Clarke said this was the first study worldwide to determine the size and frequency of inter-arm blood pressure differences in children and adolescents.

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