Archive for diagnostics
Genetic sequencing may open doors for newborns with hypotonia
When a baby is born with low muscle tone (hypotonia), the future is hard to predict, and families have a lot of questions. How should neonatologists care for these infants? Findings from a recent review could help provide some answers, guide appropriate interventions, and in some cases open the way to custom treatments. Diagnosing a ... Read More
How protected am I from COVID-19? A new test could tell you at home
Say you’re going to a wedding or a concert or are about to leave the country. You’ve been vaccinated against COVID-19, even boosted, but you have an underlying medical condition. You might have a young child who’s received only one vaccine dose. How much protection do you and your family have? Do you need another ... Read More
Rethinking the origins of cerebral palsy
Cerebral palsy (CP) has widely been viewed as the result of perinatal oxygen deprivation or other birth-related factors like prematurity. For many children, this is true. But new work from Boston Children’s finds that up to 1 in 4 have an underlying genetic condition with the potential to change the approach to their care. Findings ... Read More
Could concussion be monitored through urine samples?
Concussion can be frustratingly hard to diagnose and track. The injury doesn’t show up on routine brain scans, and there is no definitive diagnostic test. It’s usually diagnosed based on symptoms and, in athletes, comparison with baseline testing if it was done. But concussion symptoms are non-specific, unreliable, and easily influenced by emotions. “Athletes usually ... Read More
From our labs and clinics: The top 10 COVID-19 science stories of 2021
As COVID-19 waxed, waned, morphed, and waxed again this year, research was taking place throughout Boston Children’s Hospital. Ongoing national studies the hospital is leading or co-leading include Overcoming COVID-19, a CDC-funded study on COVID-19 and multisystem inflammatory syndrome in children (MIS-C); IMPACC, examining immune responses in people hospitalized with COVID-19; and MUSIC, studying MISC’s ... Read More
Rapid saliva test detects COVID-19 variants, at home or point of care
COVID-19 tests are now widely available, including FDA-approved tests like BinaxNOW that people can do at home. But none of the home tests — or any hospital test — can distinguish between specific SARS-CoV-2 variants. Detecting and tracking variants, essential for public health efforts, requires complete nucleic acid sequencing of the virus. Currently, only specialized ... Read More
‘Mosaic’ gene mutations could explain some cases of autism
The causes of autism remain mysterious. Scientists have linked autism spectrum disorder to a long list of genes, but most children with autism have no known explanation. Two new studies add to the picture, implicating mutations that affect only a fraction of a child’s cells. Called mosaic mutations, they open a new avenue for research ... Read More
2020, the year COVID-19 tuned us into science: Part 1
On January 9, the World Health Organization announced a mysterious pneumonia in Wuhan, China. Few people knew it was the threat infectious disease experts had feared for decades: a fast-spreading, potentially deadly new virus with no known cure. As the first images of critically ill patients came out of China and Italy, we watched as ... Read More
A COVID-19 DNA nanoswitch: A new kind of test for a new kind of virus
When the COVID-19 pandemic shut down research laboratories across the country, several labs at Boston Children’s Hospital geared up, including that of Wesley Wong, PhD. He and his team responded to the threat by developing a new, easy diagnostic test for COVID-19. Wesley Wong “Our technology, a DNA nanoswitch, is a new way of probing ... Read More
Platelet profiles could enhance care for bleeding disorders, cardiovascular disease, cancer
The trillion-odd platelets in our blood are best known for controlling bleeding, helping clots form when we sustain an injury. But platelets can also go rogue. They contribute to clotting in cardiovascular disease and diabetes, leading to strokes and heart attacks, and can be hijacked by cancers to help them spread. Key takeaways A new ... Read More