Blog | Page 24 of 158 | Boston Children's Answers

Genetic variants are found in two types of strabismus, sparking hope for future treatment

Posted on March 27, 2024 by Albert McKeon | Basic/Translational, Research

Tags: genetics and genomics, ophthalmology, research, strabismus

Determining how genetics contribute to common forms of strabismus has been a challenge for researchers. Small discoveries are considered meaningful progress. Boston Children’s researchers believe they’ve helped move the needle. They discovered that two types of strabismus — esotropia and exotropia — may have shared genetic risk factors. Duplications on the second, fourth, and tenth chromosomes that ... Read More

Tagged: genetics and genomics, ophthalmology, research, strabismus

Exploring brain operations: Making decisions, snapping to attention, and forming memories

Posted on March 13, 2024 by Nancy Fliesler | Basic/Translational, Research

Tags: ADHD, alzheimers disease, epilepsy, neuroscience

How do our brains snap to attention and orient us to the outside world — like when we’re sound asleep and the smoke alarm goes off? And when different choices confront us, how does our brain make decisions? Two groups of researchers at Boston Children’s explored these all-important brain operations. The first study, published February ... Read More

Tagged: ADHD, alzheimers disease, epilepsy, neuroscience

‘Everything fell into place’: Innovative POEM procedure lets Peyton eat without pain

Posted on March 13, 2024 by Jessica Cerretani | Patient Stories

Tags: gastroenterology, motility, pain

Peyton Reed, 14, is a typical teenage boy: He enjoys tennis, video games — and food. So when eating became so painful for him that he started losing weight, his parents knew it was time to get him help. The problem began gradually enough five years ago, with bouts of what seemed liked heartburn. Because ... Read More

Tagged: gastroenterology, motility, pain

In the genetics of congenital heart disease, noncoding DNA fills in some blanks

Posted on March 7, 2024 by Nancy Fliesler | Basic/Translational, Research

Tags: congenital heart defect, genetics and genomics, heart, heart center, rare disease

Researchers have been chipping away at the genetic causes of congenital heart disease (CHD) for a couple of decades. About 45 percent of cases of CHD have an identifiable cause, including chromosomal abnormalities, genetic variants affecting protein-coding genes, and environmental factors. What about the rest of the cases of CHD? Noncoding DNA elements have long ... Read More

Tagged: congenital heart defect, genetics and genomics, heart, heart center, rare disease

Machine learning algorithm could offer urologists a “crystal ball” for predicting VUR

Posted on March 5, 2024 by Jessica Cerretani | Data Science, Research

Tags: artificial intelligence, urology

Hydronephrosis is a common congenital anomaly that’s increasingly identified during prenatal ultrasound. Although ultrasound is also the first-line test to screen for hydronephrosis in infants, it is poor at determining dilating vesicoureteral reflux (VUR), one cause of hydronephrosis. A voiding cystourethrogram (VCUG) can better characterize VUR but is more invasive and costlier. But what if ... Read More

Tagged: artificial intelligence, urology

Could SIDS be caused by unrecognized brain infections?

Posted on March 1, 2024 by Nancy Fliesler | Clinical, Research

Tags: genetics and genomics, infectious diseases, neuroinflammation, research, sudden infant death syndrome

Some infants who pass away from sudden infant death syndrome (SIDS) are known to have had acute minor infections. Could these have played a role in their death? Using next-generation molecular tools, a new study provides evidence that undiagnosed inflammation and occult infection can contribute to SIDS and the brainstem pathology seen in some infants. ... Read More

Tagged: genetics and genomics, infectious diseases, neuroinflammation, research, sudden infant death syndrome

After surgery for heart condition tetralogy of Fallot, James is all joy

Posted on February 27, 2024 by Albert McKeon | Clinical Care, Primary Care

Tags: cardiac surgery, cardiology, Fetal Care and Surgery Center, heart, heart center, heart patient, MFCC, tetralogy of fallot

Warriors come in all shapes and sizes. Some even smile. In the Irvine family, the lead warrior is a happy one: 6-month-old James, whose cheeriness hides the difficult medical journey he had in the first few months of life. “I have been told by many people that James is an inspiration,” says his mom, Heidi. ... Read More

Tagged: cardiac surgery, cardiology, Fetal Care and Surgery Center, heart, heart center, heart patient, MFCC, tetralogy of fallot

Finding ways to reduce the financial and social costs of pacemakers

Posted on February 23, 2024 by Albert McKeon | Clinical, Research

Tags: arrhythmia, cardiac research, cardiac surgery, cardiology, heart, heart center, medical devices, research

As the number of complex heart operations has increased over the years, so have cases of postoperative heart block, a form of arrhythmia that often requires a pacemaker and more surgery. Heart block occurs when unseen conduction tissue — the cells and electrical signals that control the beating of a heart — is injured. It is a ... Read More

Tagged: arrhythmia, cardiac research, cardiac surgery, cardiology, heart, heart center, medical devices, research

Microvillus inclusion disease: From organoids to new treatments

Posted on February 22, 2024 by Nancy Fliesler | Basic/Translational, Research

Tags: gastroenterology, organoids, rare disease, stem cells

Microvillus inclusion disease (MVID) is a rare type of congenital enteropathy in infants that causes devastating diarrhea and an inability to absorb food. Infants can lose liters of fluid a day, become severely dehydrated, and stop growing. There is no specific treatment. “Until about 10 years ago, 50 percent of kids with MVID would die ... Read More

Tagged: gastroenterology, organoids, rare disease, stem cells

Exposing a tumor’s antigens to enhance immunotherapy

Posted on February 21, 2024 by Nancy Fliesler | Basic/Translational, Research

Tags: cancer, cellular and molecular medicine, immunotherapy

Successful immunotherapy for cancer involves activating a person’s own T cells to attack the tumor. But some tumors have a trick: They hide themselves from the immune system by preventing their antigens from being displayed, a necessary step in activating T cells. In new work published in Science, researchers in the Program in Cellular and ... Read More

Tagged: cancer, cellular and molecular medicine, immunotherapy