PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Newborn screening for epilepsy in sight through the discovery of novel disease biomarkers

2021-07-08
(Press-News.org) The door has finally opened on screening newborn babies for pyridoxine-dependent epilepsy (PDE), a severe inherited metabolic disorder. This screening promises to enable better and earlier treatment of the disease. To identify new biomarkers that can be used in the newborn screening protocol, also known as the neonatal heel prick, researchers at the Radboud University Medical Center joined forces with scientists at the Radboud University's FELIX laser laboratory. They published their findings in The Journal of Clinical Investigation.

The discovery and identification of the new biomarkers could lead to an important addition to worldwide newborn screening protocols. Currently, there are over a thousand known inborn metabolic diseases (IMD), but only 2% of them can be detected through the neonatal heel prick. While these are relatively rare as individual disorders, in the Netherlands, every other day a child is born with an IMD. These disorders have severe health consequences for patients and are currently one of the leading causes of early death among children in the Netherlands.

Technologies combined "Using new techniques in our clinical laboratory where we study the products of chemical processes (metabolomics), we were able to detect the presence of compounds in body fluids of patients that are not present in persons unaffected by PDE - that was a great first step. However, we could only identify the exact structure of these compounds, the new PDE biomarkers, using the infrared laser at FELIX", says Karlien Coene, laboratory specialist and researcher at the Translational Metabolic Laboratory of the Radboud University Medical Center. This is the first time that an infrared free electron laser - of which are only a hand full in the world - is combined with these clinical experiments.

Pyridoxine-dependent epilepsy (PDE) is an inherited metabolic disorder that is primarily characterized by intractable seizures that do not respond to conventional antiepileptic medications. Seizures are often controlled by daily high doses of vitamin B6, however 80% of affected children nevertheless suffer developmental delay and intellectual disability.

Early screening for metabolic diseases is critical for optimal treatment. That is why researchers are constantly looking for new ways to detect more metabolic diseases earlier in life via the heel prick. These diseases can be identified by looking for the presence of small molecules in the blood that are unique to the disease, also called "biomarkers".

Circumvent bottlenecks Biomarker discovery and identification is a well-known bottleneck in research of metabolic diseases. "To overcome this hurdle, we decided to combine the advanced analytical instrumentation with the infrared laser of the FELIX laboratory', says Jonathan Martens, researcher at Radboud University's FELIX Laboratory. "The measurements obtained using the unique FELIX laser gives us information about the bonds between the atoms and leads us to the precise molecular structure. With this information, we ultimately managed to synthesize the molecules and this allowed us to further investigate their role in the disease."

In addition to new possibilities in newborn screening, this finding has also revealed fundamental insights about the disease, which could ultimately lead to optimized treatment and better chances to prevent cognitive disability.

Martens: "Now that we have demonstrated that this new combination of techniques really works, we are actively applying our method in research on a range of other (metabolic) diseases for which biomarkers are currently lacking."

INFORMATION:



ELSE PRESS RELEASES FROM THIS DATE:

Novel study of high-potency cannabis shows some memory effects

2021-07-08
PULLMAN, Wash. - Even before the pandemic made Zoom ubiquitous, Washington State University researchers were using the video conferencing app to research a type of cannabis that is understudied: the kind people actually use. For the study, published in Scientific Reports, researchers observed cannabis users over Zoom as they smoked high-potency cannabis flower or vaped concentrates they purchased themselves from cannabis dispensaries in Washington state, where recreational cannabis use is legal. They then gave the subjects a series of cognitive tests. The researchers found no impact on the users' performance on decision-making tests in comparison to a sober control group but did find some memory impairments related to free ...

EHR alerts go unread, do not lead to deprescribing of medicines linked to dementia

EHR alerts go unread, do not lead to deprescribing of medicines linked to dementia
2021-07-08
INDIANAPOLIS -- The vast majority of electronic health record (EHR) alerts attempting to reduce the prescribing of high-risk medications linked to dementia in older adults went unread in a study led by research scientists from Regenstrief Institute, Purdue University and Indiana University School of Medicine. The goal of the intervention was to facilitate the deprescribing of anticholinergics through both provider and patient-based alerts, however, engagement with the alerts was so low, the study team was unable to conclude if this approach could be ...

Machine-learning improves the prediction of stroke recovery

Machine-learning improves the prediction of stroke recovery
2021-07-08
When blood flow to the brain is somehow reduced or restricted, a person can suffer what we know as a stroke (from "ischemic stroke" in medical jargon). Stroke is one of those conditions that seems fairly common. This isn't a misperception: just in Europe, there are over 1.5 million new cases each year. Some strokes can be lethal, and when they're not they often result in serious damage to the victim's ability to move. In fact, stroke is one of the major causes of long-term disability today. Recovery can be a long and arduous road. Again, in Europe, under 15% of the patients ...

Open-source software to help cities plant in pursuit of clean air

2021-07-08
Software to help towns and cities use street-planting to reduce citizens' exposure to air pollution has been developed by researchers at the University of Birmingham. Street planting, or 'green infrastructure', is an essential part of the urban realm, but there is a misconception that plants remove or 'soak up' a lot of pollution. Instead, planting at this scale primarily serves to redistribute pollution by changing air currents within streets and beside open roads. Because of this, not only the position and amount of planting within a street, but also ...

Thousands of galaxies classified in a blink of an eye

Thousands of galaxies classified in a blink of an eye
2021-07-08
Astronomers have designed and trained a computer program which can classify tens of thousands of galaxies in just a few seconds, a task that usually takes months to accomplish. In research published today, astrophysicists from Australia have used machine learning to speed up a process that is often done manually by astronomers and citizen scientists around the world. "Galaxies come in different shapes and sizes" said lead author Mitchell Cavanagh, a PhD candidate based at The University of Western Australia node of the International Centre for Radio Astronomy Research (ICRAR). "Classifying the shapes of galaxies is an important step in understanding their formation and evolution, and can even shed light on the nature of the Universe itself." Mr Cavanagh said that ...

Most common joint procedures not backed by high quality evidence

2021-07-08
Most common bone and joint (orthopaedic) procedures, such hip replacements and shoulder repair surgery, are not backed up by high quality evidence, mainly because of a lack of definitive trials, suggests an analysis of data published by The BMJ today. Yet despite the lack of strong supporting evidence, some of these procedures are still recommended by national guidelines in certain situations, the findings show. Musculoskeletal conditions affect around 1 in 4 UK adults and account for over 25% of all NHS surgical interventions at a cost of £4.76 billion each year. National ...

Muscle relaxants largely ineffective for low back pain

2021-07-08
Muscle relaxant drugs are largely ineffective for low back pain, despite being widely prescribed for this condition, suggests an analysis of the latest evidence published by The BMJ today. The findings show that muscle relaxants might reduce pain in the short term, but the effect is too small to be considered clinically meaningful, and there is an increased risk of side effects. But the researchers stress that the certainty of evidence is low and say large trials are urgently needed to resolve uncertainties around the use of these drugs for back pain. Low back pain is a global public health problem and muscle relaxants (a broad class of drugs that include ...

Mandatory COVID-19 vaccination for care home workers is unnecessary, disproportionate and misguided

2021-07-08
Mandatory covid-19 vaccination for care home workers is unnecessary, disproportionate and misguided, warn experts And is based on unreliable data In The BMJ today, experts argue that mandatory vaccination is "unnecessary, disproportionate, and misguided." The government decision to remove the right of care home staff in England to choose whether or not to be vaccinated against covid-19 is a profound departure from public health norms. The intended next step is a rapid and massive expansion of compulsory vaccination to legally require covid-19 and flu vaccination of all frontline health and social care workers, subject to consultation. But Lydia Hayes, Professor of Law at Kent ...

Malaria and dengue predicted to affect billions more people

2021-07-08
An estimated 8.4 billion people could be at risk from malaria and dengue by the end of the century if emissions keep rising at current levels, according to a new study published in The Lancet Planetary Health. The research team estimates that this worst-case scenario would mean the population at risk of the diseases might increase by up to 4.7 additional billion people (relative to the period 1970-1999), particularly in lowlands and urban areas, if temperatures rise by about 3.7°C 1 by 2100 compared to pre-industrial levels. The study was led by the London School of Hygiene & Tropical Medicine (LSHTM) with partners from Umeå University, Sweden; Abdus Salam ...

Tool helps predicts who will respond best to targeted prostate cancer therapy

2021-07-08
LOS ANGELES - A new prognostic tool developed by researchers from the UCLA Jonsson Comprehensive Cancer Center and five other institutions helps predict which men with advanced metastatic prostate cancer will respond favorably to a novel targeted therapy. The tool, described in a study published today in Lancet Oncology, analyzes a wide spectrum of imaging and clinical data and is intended to assist physicians considering treating patients with Lutetium-177 prostate-specific membrane antigen, or LuPSMA. LuPSMA, which binds to PSMA proteins and delivers targeted radiation to prostate cancer tissue, offers a new option to men with PSMA-positive metastatic cancer that is castration-resistant, meaning it has stopped ...

LAST 30 PRESS RELEASES:

Reality check: making indoor smartphone-based augmented reality work

Overthinking what you said? It’s your ‘lizard brain’ talking to newer, advanced parts of your brain

Black men — including transit workers — are targets for aggression on public transportation, study shows

Troubling spike in severe pregnancy-related complications for all ages in Illinois

Alcohol use identified by UTHealth Houston researchers as most common predictor of escalated cannabis vaping among youths in Texas

Need a landing pad for helicopter parenting? Frame tasks as learning

New MUSC Hollings Cancer Center research shows how Golgi stress affects T-cells' tumor-fighting ability

#16to365: New resources for year-round activism to end gender-based violence and strengthen bodily autonomy for all

Earliest fish-trapping facility in Central America discovered in Maya lowlands

São Paulo to host School on Disordered Systems

New insights into sleep uncover key mechanisms related to cognitive function

USC announces strategic collaboration with Autobahn Labs to accelerate drug discovery

Detroit health professionals urge the community to act and address the dangers of antimicrobial resistance

3D-printing advance mitigates three defects simultaneously for failure-free metal parts 

Ancient hot water on Mars points to habitable past: Curtin study

In Patagonia, more snow could protect glaciers from melt — but only if we curb greenhouse gas emissions soon

Simplicity is key to understanding and achieving goals

Caste differentiation in ants

Nutrition that aligns with guidelines during pregnancy may be associated with better infant growth outcomes, NIH study finds

New technology points to unexpected uses for snoRNA

Racial and ethnic variation in survival in early-onset colorectal cancer

Disparities by race and urbanicity in online health care facility reviews

Exploring factors affecting workers' acquisition of exercise habits using machine learning approaches

Nano-patterned copper oxide sensor for ultra-low hydrogen detection

Maintaining bridge safer; Digital sensing-based monitoring system

A novel approach for the composition design of high-entropy fluorite oxides with low thermal conductivity

A groundbreaking new approach to treating chronic abdominal pain

ECOG-ACRIN appoints seven researchers to scientific committee leadership positions

New model of neuronal circuit provides insight on eye movement

Cooking up a breakthrough: Penn engineers refine lipid nanoparticles for better mRNA therapies

[Press-News.org] Newborn screening for epilepsy in sight through the discovery of novel disease biomarkers