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Researchers Discover New Genetic Variants Responsible for Neurodevelopmental Disorders

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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. ....

United States , Hakon Hakonarson , Burroughs Wellcome Fund , National Institutes Of Health , Institutional Development Funds , National Eye Institute , Department Of Pathology , Laboratory Medicine , National Human Genome Research Institute , Diseases Program Victoria , Harbig Family Foundation , Murdoch Children Research Institute , Harvard Center , Blood Institute , National Heart , Victorian Government Operational Infrastructure Support Program , Applies Genomics , Yuanquan Song , Applied Genomics , National Institutes , Undiagnosed Diseases Program Victoria , Murdoch Children , Research Institute , Victorian Government , Operational Infrastructure Support , Broad Institute ,

Pediatric Bronchiolitis: Less Is More

Pediatric Bronchiolitis: Less Is More
medscape.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from medscape.com Daily Mail and Mail on Sunday newspapers.

New York , United States , New Zealand , Dianas Lee , Roberth Lurie , Michelle Dunn , Libby Haskell , Todda Florin , Matthewj Lipshaw , Saraha Elliott , American Academy Of Pediatrics , Canadian Institutes Of Health Research Knowledge Synthesis , University Of Alberta , National Health , Alberta Research Centre For Health Evidence , Starship Foundation , Royal Children Hospital Foundation , University Of Ottawa Tieri Research , Icahn School Of Medicine At Mount Sinai , Stollery Science Laboratory , Canada Research , Research Council Of New Zealand , Research Excellence For Pediatric Emergency Medicine , Cincinnati Children Hospital Medical Center , Victorian Government Operational Infrastructure Support Program , Cincinnati Children ,

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

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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.
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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. ....

South Australia , United States , South Africa , Davidp Burgner , Graham Colditz , Jessicae Miller , Siroon Bekkering , Danielle Longmore , Edin Mifsud , Yanshan Zhu , David Burgner , Daniellek Longmore , National Health , Monash University , University Of Queensland , University Of Queensland Dr Kirsty Short , Dutch Heart Foundation Dekker , Washington University , Radboud University Medical Center , Doherty Institute , Department Of Health , Group Leader , Melbourne University , University Of Bern , Research Council , Victorian Government Operational Infrastructure Support Program ,

Kids' blood pressure measurements different between arms, potential for misdiagnosis

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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.
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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. ....

United States , Slippery Rock University , Garry Jennings , Josephj Smolich , Brockt Jensen , Jonathanp Mynard , Hilarya Harrington , Melaniem Clarke , Michael Mh Cheung , Melanie Clarke , Diana Zannino , Jonathan Mynard , Jonathanp Glenning , Michaele Holmstrup , American Academy Of Pediatrics , Heart Foundation , European Society Of Hypertension , National Health , Team Leader Heart Research , National Heart Foundation Of Australia , Rd Wright Career Development Fellowship , Research Council Of Australia , Heart Research Group , University Of Melbourne , Murdoch Children Research Institute , Big W ,

First detailed insight into newborn babies' lungs at birth

First detailed insight into newborn babies' lungs at birth
eurekalert.org - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from eurekalert.org Daily Mail and Mail on Sunday newspapers.

United States , David Tingay , Olivia Farrell , Camilla Milly , Peterg Davis , Pruem Pereira Fantini , Davidg Tingay , Andreasd Waldmann , Jessica Thomson , Sandy Adler , Elizabethj Perkins , Joanna Bezette , National Health , Research Council Practitioner Fellowship Grant , Research Council Clinical Career Development Fellowship Grant , Research Council Program Grant , University Medical Center Schleswig Holstein , Group Leader , University Of Melbourne , Research Council Centre Of Excellence Grant , Rostock University Medical Center , Murdoch Children Research Institute , Neonatal Research , Carleton University , Victorian Government Operational Infrastructure Support Program , Murdoch Children ,