Pediatrics News and Research

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Pediatrics is the branch of medicine that deals with the medical care of infants, children, and adolescents. The age limit of such patients ranges from birth to 18. In countries where the age of majority is 18, this age limit may be from birth to age 17 (such as in Canada). A medical practitioner who specializes in this area is known as a pediatrician.

Novel newborn screening test for HCU works by measuring homocysteine levels

Scientists have developed a test that could greatly improve quality of life for infants with homocystinuria (HCU)-;a congenital disease that, if not treated early, causes serious complications. Research demonstrating the efficacy of this test was published today in AACC's Clinical Chemistry journal.

16 Mar 2023

Study identifies a novel rare mutation in gene linked to Harlequin Ichthyosis

Harlequin ichthyosis (HI) is a severe genetic skin disorder characterized by thick white, brown, or dark brown patches on the skin covering a newborn's entire body. HI has a low incidence of 1 per 300,000 live births but comes with the highest mortality rate among skin conditions. It is caused by a mutation in the ABCA12 gene, which codes for a protein involved in transporting lipids necessary for the formation of the skin barrier. Such protein shortage leads to a weaker epidermal barrier.

9 Mar 2023

Using nanoparticles to carry drugs across the blood-brain barrier

Brain tumors are notoriously hard to treat. One reason is the challenge posed by the blood-brain barrier, a network of blood vessels and tissue with closely spaced cells.

3 Mar 2023

SXSW 2023 to focus on the critical role microbes in human health

Rebecca Bart, PhD, member at the Donald Danforth Plant Science Center, and her colleagues from Washington University in St. Louis will be featured on a global stage at South by Southwest on March 11 at 2:30 PM at the JW Marriott, Austin Texas.

28 Feb 2023

Study elucidates the cellular changes caused by exposure to adversity during childhood

A new brain connection discovered by University of California, Irvine researchers can explain how early-life stress and adversity trigger disrupted operation of the brain's reward circuit, offering a new therapeutic target for treating mental illness. Impaired function of this circuit is thought to underlie several major disorders, such as depression, substance abuse and excessive risk-taking.

28 Feb 2023

New model simplifies the understanding of vascular malformations

Our bodies are made up of 60,000 miles of complex pipes that play a vital role in transporting nutrients throughout our bodies, performing waste disposal, and supplying our organs with fresh oxygen and blood.

27 Feb 2023

How the immune response in the brain aggravates epilepsy

Biologists at the University of Iowa have conclusively connected epilepsy with the brain’s immune system.

15 Feb 2023

Extracts from two common wild plants block SARS-CoV-2 from entering human cells

Two common wild plants contain extracts that inhibit the ability of the virus that causes COVID-19 to infect living cells, an Emory University study finds.

13 Feb 2023

Ten years and 1,000 studies later, epigeneticists discover problems in their arsenal

Twenty years ago, following the initial sequencing of the human genome, geneticists started carrying out extensive genome-wide association studies to find genomic regions connected to human disease.

16 Jan 2023

Key genes driving cleft lip and palate identified

A research group headed by the University of Iowa recognized three genes that, when deleted, produce cleft lip or palate, a facial abnormality that affects around one in every 1,600 babies in the United States, according to the US Centers for Disease Control and Prevention.

13 Jan 2023

Marine plankton samples can help understand the link between ocean pollution and chronic illnesses

Using samples from an almost century-old, ongoing survey of marine plankton, researchers at University of California San Diego School of Medicine suggest that rising levels of manmade chemicals found in parts of the world's oceans might be used to monitor the impact of human activity on ecosystem health, and may one day be used to study the connections between ocean pollution and land-based rates of childhood and adult chronic illnesses.

9 Jan 2023

Simple inexpensive test determines the genetic susceptibility to PML

Four genetic mutations have been linked to progressive multifocal leukoencephalopathy (PML), a rare but sometimes fatal brain infection that can be provoked by dozens of FDA-approved drugs.

16 Dec 2022

Atypical antibody shows extremely potent zika-resistant activity

A group of researchers led by Weill Cornell Medicine, New York-Presbyterian, and National Institutes of Health (NIH) investigators has discovered an unusual type of antibody that, even at extremely low concentrations, neutralizes the Zika virus and renders the virus infection undetectable in preclinical models.

22 Nov 2022

A gene’s function in embryonic development

An international study led by the medical school at the University of Bonn has discovered a gene that is crucial to the growth of the human embryo. Abnormalities of different organ systems may occur if it is changed.

16 Nov 2022

Salivary miRNAs may be a promising biomarker for persistent post-concussive symptoms in children

Predicting clinical recovery of children with concussion is challenging. While concussion symptoms typically resolve within one to three weeks, up to one-third of children develop persistent post-concussive symptoms (PPCS), including headache, nausea, dizziness, blurred vision and sensitivity to light and/or sound.

26 Oct 2022

Researchers propose a solution to delayed molecular diagnosis and therapy in childhood genetic diseases

Rady Children’s Institute for Genomic Medicine (RCIGM®) recently announced the publication in Nature Communications of research that describes and examines the efficiency of Genome-to-Treatment (GTRxTM), a computer-controlled, virtual disease management system that combines a quick Whole Genome Sequencing (rWGS®) diagnosis accomplished in 13.5 hours with a custom lab management information system and analysis pipeline.

28 Jul 2022

Pediatrics News and Research

Novel newborn screening test for HCU works by measuring homocysteine levels

Study identifies a novel rare mutation in gene linked to Harlequin Ichthyosis

Using nanoparticles to carry drugs across the blood-brain barrier

SXSW 2023 to focus on the critical role microbes in human health

Study elucidates the cellular changes caused by exposure to adversity during childhood

New model simplifies the understanding of vascular malformations

How the immune response in the brain aggravates epilepsy

Extracts from two common wild plants block SARS-CoV-2 from entering human cells

Ten years and 1,000 studies later, epigeneticists discover problems in their arsenal

Key genes driving cleft lip and palate identified

Marine plankton samples can help understand the link between ocean pollution and chronic illnesses

Simple inexpensive test determines the genetic susceptibility to PML

Atypical antibody shows extremely potent zika-resistant activity

A gene’s function in embryonic development

Salivary miRNAs may be a promising biomarker for persistent post-concussive symptoms in children

Researchers propose a solution to delayed molecular diagnosis and therapy in childhood genetic diseases

Research highlights the new genetic variations and pediatric NAFLD severity

Safety, feasibility of intranasal human milk as stem cell therapy for preterm infants with intraventricular hemorrhage

Study underscores the crucial role of genomic profiling in diagnosing and grading brain tumors

Astrocyte abnormalities may play a pivotal role in causing ASD symptoms

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