Tag Archive: Snapshot Science

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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May 1 2018

Does an Impaired Biological Pathway Help Explain Heart Problems in Huntington’s Disease?

The Findings:

Researchers gained new insights into the heart problems that are the second leading cause of death in patients with Huntington’s disease (HD). An incurable, inherited disease with progressive loss of brain cells and motor function, HD occurs when a defective gene produces repeated copies of a protein called huntingtin, or HTT. The mutant HTT (mHTT) protein disrupts multiple fundamental cellular processes along the mTORC1 pathway that promotes cell growth and metabolism. The study team described how decreased mTORC1 activity contributed to the development of heart disease with stress in mouse models of HD. By restoring cardiac mTORC1 activity, the researchers improved the animals’ heart function and survival over the course of the study.

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Mar 6 2018

Is an Uncommon Genetic Mutation Linked to Vitamin D-dependent Rickets?

The Findings:

Researchers identified a genetic mutation in CYP3A4 that is linked to vitamin D-dependent rickets (VDDR), a childhood disorder associated with impaired growth and skeletal mineralization. Scientists already knew about two other genetic forms of VDDR, but this third kind is caused by a gain-in-function mutation — a random genetic change that confers a new function on a gene — that leads to accelerated inactivation of vitamin D metabolites. This is a new insight into vitamin D metabolism.

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Nov 8 2017

Is Mindfulness Important for Mothers of Babies With Heart Conditions?

The Findings:

A cardiac intensive care unit (CICU) filled with tiny infants connected to collections of tubes and buzzing monitors can be an intimidating and overwhelming place for a mother who is worried about her newborn with congenital heart disease (CHD). A Children’s Hospital of Philadelphia team of nurse researchers conducted a qualitative study in which mothers of babies who have a complex heart condition described the post-diagnostic period, surgery, and the CICU stay as extremely stressful. The researchers also examined mothers’ coping mechanisms, and they identified mindfulness as a potential helpful early intervention tool to reduce mothers’ stress.

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Oct 3 2017

What Are Transcription Errors’ Role in Aging and Disease?

The human genome provides a precise, biological blueprint of life. To implement this blueprint correctly, the genome must be read with great precision, but it’s impossible for this process to be completely error-free. Mistakes during transcription — random errors in how DNA sequences are copied for a gene to be expressed — can happen any time in any number of ways.

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