Blog | Page 13 of 159 | Boston Children's Answers

Phenylketonuria: Giving treatment a second chance

Tags: genetics and genomics, metabolism, rare disease

Phenylketonuria (PKU) was once a common cause of intellectual disability. Children born with this metabolic condition lack phenylalanine hydroxylase (PAH), the enzyme needed to break down the amino acid phenylalanine (phe). Instead, phe builds up to levels harmful to the brain. PKU was the original condition tested for when newborn screening was piloted in Massachusetts ... Read More

Tagged: genetics and genomics, metabolism, rare disease

Conduction tissue mapping is shown to significantly reduce heart block

Posted on January 23, 2025 by Albert McKeon | Clinical, Research

Tags: biventricular repair, cardiac research, cardiac surgery, cardiology, congenital heart defect, heart, heart center, heterotaxy syndrome, research, single ventricle defects, ventricular septal defect

New research by Boston Children’s validates an innovative approach to mapping the heart’s invisible conduction tissue during surgery. Key takeaways Using a catheter to map unseen conduction tissue drastically reduces heart block during biventricular repair surgeries for several heart conditions. Conduction tissue was identified in 96 percent of patients who were mapped. Only 4 of ... Read More

Tagged: biventricular repair, cardiac research, cardiac surgery, cardiology, congenital heart defect, heart, heart center, heterotaxy syndrome, research, single ventricle defects, ventricular septal defect

Could we cure or prevent food allergy by targeting an intestinal protein?

Posted on January 22, 2025 by Nancy Fliesler | Basic/Translational, Research

Tags: allergy, immunology, immunotherapy, microbiome

When is food simply nourishing and enjoyable, and when does it provoke an allergic reaction? The answer appears to lie in the balance of microbes that live in our intestine — and a specific protein secreted by intestinal goblet cells that influences that balance. Excess amounts of this protein, RELMß, change the profile of intestinal ... Read More

Tagged: allergy, immunology, immunotherapy, microbiome

Crossing the ocean: Kathryn learns how to manage chronic pain

Posted on January 21, 2025 by Jessica Cerretani | Patient Stories

Tags: pain

When Kathryn Chechile, 11, “graduated” from Boston Children’s Pediatric Pain and Rehabilitation Center (PPRC) last year, she painted a tile to hang on the wall of the Center’s space. It’s a fun ritual for patients who complete the intensive day program aimed at helping kids manage chronic pain. Kathryn’s design features a girl looking out ... Read More

Tagged: pain

From swallowing troubles to doughnuts: How vascular ring treatment helped Everly

Posted on January 16, 2025 by Albert McKeon | Patient Stories

Tags: aerodigestive, Esophageal and Airway Treatment Center, heart center, vascular rings

By the time she was a year old, Everly Parisee was frequently wheezing. Then she had trouble swallowing foods. Her parents sought help from local pediatricians and specialists, who, in turn, couldn’t pinpoint a diagnosis. It turns out Everly had a type of vascular ring — a rare congenital defect that can constrict critical parts of the ... Read More

Tagged: aerodigestive, Esophageal and Airway Treatment Center, heart center, vascular rings

Mapping cells to create targeted treatments for interstitial lung disease

Posted on January 13, 2025 by Albert McKeon | Basic/Translational, Research

Tags: genetics and genomics, interstitial lung disease, precision medicine, pulmonology, research

John Kennedy, MD, MSc, remembers the relative simplicity of his first genetic mapping project. In a Harvard Medical School lab, he helped map a gene for the neurological disease mucolipidosis type IV in less than a year. “I was fresh out of college. I thought with the global momentum of the Human Genome Project, we were going to ... Read More

Tagged: genetics and genomics, interstitial lung disease, precision medicine, pulmonology, research

Faced with a rare type of liver cancer, Ramie focuses on the positive

Posted on January 6, 2025 by Jessica Cerretani | Patient Stories

Tags: liver cancer, transplant

When Ramie Darling learned that his liver cancer had recurred, he thought for a while and then simply said, “OK.” Asked by his parents if he understood the situation, he replied, “I know I need more treatment. But whenever there’s a ‘down’ in life, I just think of the ‘ups.’” It’s an attitude that has ... Read More

Tagged: liver cancer, transplant

Blood across our lifetimes: An age-specific ‘atlas’ tells a dynamic story

Posted on January 3, 2025 by Nancy Fliesler | Basic/Translational, Research

Tags: blood, blood disorder, cancer, leukemia, stem cells

The stem cells that form our blood, also known as hematopoietic stem cells (HSCs), are with us throughout our lives. A new study reveals how HSCs ramp up and pivot their activities depending on the body’s needs at the time, from before we’re born until old age. Researchers at Dana-Farber/Boston Children’s Cancer and Blood Disorders ... Read More

Tagged: blood, blood disorder, cancer, leukemia, stem cells

AI-enabled medical devices are burgeoning, but many haven’t been tested in children

Posted on December 18, 2024 by Nancy Fliesler | Data Science, Research

Tags: artificial intelligence, cardiology, clinical trials, imaging, medical devices, neurology

Medical devices that incorporate artificial intelligence and machine learning are proliferating. In 2013, the FDA approved fewer than 10 such devices; by 2023, this number had grown to nearly 250. Devices include software to help interpret radiology images, wearable devices that monitor the heart and flag risks, and devices that analyze brain signals for potential ... Read More

Tagged: artificial intelligence, cardiology, clinical trials, imaging, medical devices, neurology

Years of experience support the safe use of fine-needle aspiration for pediatric thyroid nodules

Posted on December 17, 2024 by Jessica Cerretani | Research

Tags: thyroid cancer

Ultrasound-guided fine-needle aspiration (FNA) has long been used as a safe and effective way to evaluate thyroid nodules in adults, usually without sedation. Less is known about the safety and tolerability of FNA in children, although small studies suggest that the approach can be performed without sedation and with minimal complications. Now, a report by ... Read More

Tagged: thyroid cancer