Tag Archive: Snapshot Science

Aug 13 2019

How Do Specific Sets of Neurons Influence Autistic-like Features of CDKL5 Deficiency Disorder?

The findings:

Researchers studying CDKL5 deficiency disorder (CDD), a complex and severe neurodevelopmental condition caused by mutations in the CDKL5 gene, gained novel insights into CDD’s underlying mechanisms. Their findings suggest that disrupted early development of neural circuitry has downstream consequences, disturbing neurotransmitter pathways and resulting in cognitive problems and autistic-like behaviors.

Previous research by the scientific team demonstrated that loss of CDKL5, which provides instructions for making a synaptic protein essential for normal brain development and functions, in forebrain glutamatergic neurons is implicated in learning and memory deficits. Their new findings suggest that loss of CDKL5 in forebrain GABAergic neurons leads to autistic-like features in mouse models of CDD.

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Jul 3 2019

Genetic Discovery Leads to New Treatment for Defective Lymphatic Circulation

The findings:

A study team at Children’s Hospital of Philadelphia discovered a gain-of-function mutation in the ARAF gene causing a life-threatening rare disease known as central conducting lymphatic anomaly that disrupts circulation of lymphatic fluid. They also identified an existing drug that acts on biological pathways affected by ARAF. The experimental treatment had dramatic results for a young boy with the disease who had worsening respiratory and swelling problems. The drug blocked the signals causing the dysregulated growth and abnormal lymphatic flow, prompting his lymphatic channels to reshape themselves into more normal anatomy and function.

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May 20 2019

Do Mothers’ and Babies’ Genes Influence Birth Weight?

The Findings:

An international research team conducted a large study and learned that genetic factors from both mothers and babies interact to influence birth weight. The researchers identified 190 genetic signals from variants affecting birth weight, of which 129 signals were new discoveries. The researchers also demonstrated that some of the mother’s genes were not inherited by the baby, but they did influence the baby’s uterine environment during pregnancy.

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May 1 2019

Can Boosting an Oncogene Make Cancer Cells More Vulnerable to Chemotherapy?

By Sharlene George

The Findings:

Oncogenes such as MYC are notorious troublemakers that promote cancer. Previous research strategies have focused on finding ways to quiet down levels of MYC; however, basic scientists at Children’s Hospital of Philadelphia took the opposite approach. In preclinical models, they increased MYC activity in combination with conventional chemotherapy for Burkitt lymphoma to boost an anti-cancer response. The tumor cells became more sensitive to the drugs, and cancer cell death increased.

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Mar 26 2019

How Does a New Computational Method Transform Public Big Data Into Knowledge of Transcript Splicing?

By Sharlene George

The findings:

A new computational framework called deep-learning augmented RNA-seq analysis of transcript splicing (DARTS) uses deep-learning based predictions to add dimension to the wealth of information available in public RNA sequencing (RNA-seq) big data sets. DARTS allows researchers to gain new insights into RNA and protein complexity, particularly for genes with low expression.

Who conducted the study:

A team from the Center for Computational and Genomic Medicine at Children’s Hospital of Philadelphia conducted the study including Yi Xing, PhD, who is the Center’s director, and first authors Zijun Zhang and Zhicheng Pan, who are PhD students.

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Feb 20 2019

Can Cutting-Edge Imaging Help to Map Microstructure of Infants’ Brains?

By Sharlene George

The findings:

While parents busily prepare for the arrival of their newborn in the final stages of pregnancy, life in the womb also is full of activity. The cerebral cortex in the third trimester is maturing rapidly, establishing the complex neuronal connections needed to navigate a wondrous world. Researchers at Children’s Hospital of Philadelphia suggest a new noninvasive method based on diffusion kurtosis metrics could be used to map how the microstructure of brain regions develop during early infancy. This 4-D spatiotemporal cytoarchitectural signature could provide effective imaging markers to help scientists better understand typical and atypical brain development and the emergence of certain brain functions.

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Jan 14 2019

Why is Targeting GRP75 a Novel Strategy for Treatment of Friedreich Ataxia?

The findings:

Friedreich ataxia (FRDA) is a rare, progressive autosomal recessive neurodegenerative disease characterized by progressive gait and limb ataxia; cerebellar, pyramidal, and dorsal column involvement; visual defects; scoliosis; and cardiomyopathy. FRDA is caused by transcriptional silencing of the frataxin gene and consequential deficiency of frataxin, a mitochondrial protein crucial for iron–sulphur cluster biogenesis and adenosine triphosphate (ATP) production. ATP stores and transports chemical energy within cells. Currently, no therapy is available to slow down the progression of FRDA.

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Oct 1 2018

What are Best Practices for Pediatric Nasogastric Tube Placement and Verification?

The findings:

Researchers have published best practice recommendations for nasogastric (NG) tube location placement and verification in pediatric patients. Endorsed by the American Society for Parental and Enteral Nutrition (ASPEN), the recommendations include: provide education; use appropriate NGT placement and securing methods; measure gastric pH; consider a radiograph for any patient in whom there is a concern for correct NGT placement; and improve interpretation and communication about the radiograph.

Why it matters:

Upto this point, no standard for the NG tube insertion procedure existed in the United States. If performed improperly, the common practice has potentially serious or fatal complications, including tubes being placed in the child’s lung or snaking into the brain. In addition, the tube can be inserted into the small intestine rather than the intended target of the stomach.

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Aug 23 2018

What is the Status of Local Workplace Regulations to Protect Breastfeeding?

The Findings: Breastfeeding women who return to work may face daunting challenges as they figure out their rights in the workplace. The investigators involved in this study reported thatPhiladelphia and New York are just 2 of 151 cities from across the United States that have workplace regulations outlining protections for a nursing mother who wants to breastfeed or express milk at her place of employment. Their findings suggest that the limitations of existing federal and state legislation are not met by protections at the city-level. There is a “paucity of city-level legislation to protect the employed breastfeeding and/or pumping employee.”

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Jul 10 2018

Do Oral Antibiotics Play a Role in Kidney Stone Prevalence Increase in Youth?

The Findings: Children and adults treated with five classes of oral antibiotics have a significantly higher risk of developing kidney stones. The five classes include oral sulfas, cephalosporins, fluoroquinolones, nitrofurantoin, and broad-spectrum penicillins. Patients who received sulfa drugs were more than twice as likely as those not exposed to antibiotics to have kidney stones. For broad-spectrum penicillins, the increased risk was 27 percent higher. The strongest risks appeared at younger ages and among patients most recently exposed to antibiotics. The risk of kidney stones decreased over time but remained elevated several years after antibiotic use.

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