Blog | Page 25 of 158 | Boston Children's Answers

When diagnosis is just the first step: The Brain Gene Registry

Posted on February 7, 2024 by Nancy Fliesler | Basic/Translational, Clinical Care

Tags: exome sequencing, genetics and genomics, neuroscience, rare disease, research

Through advances in genetic sequencing, many children with rare, unidentified neurodevelopmental disorders are finally having their mysteries solved. But are they? “Once families receive results of genetic testing, that’s just the beginning of a new journey,” says Maya Chopra, MBBS, FRACP, an investigator with the Rosamund Stone Zander Translational Neuroscience Center at Boston Children’s Hospital. ... Read More

Tagged: exome sequencing, genetics and genomics, neuroscience, rare disease, research

Revisiting race and ethnicity in clinical guidelines

Posted on February 5, 2024 by Nancy Fliesler | Clinical Care, Primary Care

Tags: diabetes, eczema, emergency medicine, fever, health equity, medical training, racism

Health care institutions often rely on clinical pathways in assessing patients and making decisions about their care. Some of these care algorithms incorporate race, ethnicity, or ancestry as factors in decision making. But is this helpful or harmful? And is there solid evidence to justify treating people of different racial or ethnic backgrounds differently? Robert ... Read More

Tagged: diabetes, eczema, emergency medicine, fever, health equity, medical training, racism

Helping clinicians embrace family-centered rounds

Posted on February 1, 2024 by Nancy Fliesler | Clinical Care, Research

Tags: family partnerships, health equity, medical training, safety

If you’ve ever been hospitalized, you may have experienced this: groups of doctors coming in and talking about you like you’re not there or addressing you in a perfunctory manner, using medical jargon you don’t understand. Peggy Markle was taken aback when her son was hospitalized for a not-yet-defined condition in Washington and his care ... Read More

Tagged: family partnerships, health equity, medical training, safety

New possibilities: How Caden learned to manage chronic pain — and found an unexpected path

Posted on January 30, 2024 by Jessica Cerretani | Patient Stories

Tags: motility, pain

In October 2020, Caden Deutsch started feeling sick. Although the 17-year-old had been coping with juvenile idiopathic arthritis since he was in sixth grade, this was different. By the following year, what had begun as brief episodes of gastrointestinal discomfort had progressed to constant, excruciating pain. “I’d been living with chronic joint pain for years, ... Read More

Tagged: motility, pain

Ductus arteriosus stenting could help severely ill infants with pulmonary arterial hypertension

Posted on January 26, 2024 by Albert McKeon | Clinical, Research

Tags: cardiology, pulmonary hypertension, pulmonology, research

Treatment for infants who have severe pulmonary arterial hypertension (PAH) is sometimes limited. Because they haven’t physically matured, a procedure could increase the risk of serious complications, including failure of the heart’s right ventricle. A Boston Children’s Department of Cardiology study found an interventional therapy that’s potentially safe and suitable for those critically ill small infants: the placement of ... Read More

Tagged: cardiology, pulmonary hypertension, pulmonology, research

Could a GI bug’s toxin curb hard-to-treat breast cancer?

Posted on January 24, 2024 by Nancy Fliesler | Basic/Translational, Research

Tags: cancer, infectious diseases, toxins

Clostridium difficile can cause devastating inflammatory gastrointestinal infections, with much of the damage inflicted by a toxin the bug produces. But research from Boston Children’s Hospital suggests that the same toxin could also be a useful tool for curbing highly aggressive triple-negative breast cancers that don’t respond to chemotherapy. Min Dong, PhD, in the Department ... Read More

Tagged: cancer, infectious diseases, toxins

Researchers identify genes that could affect children’s bone growth

Posted on January 24, 2024 by Albert McKeon | Basic/Translational, Research

Tags: gene editing, genetics and genomics, research

Many children anticipate reaching the next number on a measuring stick as they chart their growth. But measurements can be frustrating or stressful for children who have skeletal disorders that prevent bones from growing. Key findings Researchers used genome-wide association studies and CRISPR gene editing to see if alterations to cartilage cells, which are known ... Read More

Tagged: gene editing, genetics and genomics, research

Engineered cartilage could turn the tide for patients with osteoarthritis

Posted on January 23, 2024 by Joanne Barker | Basic/Translational, Research

Tags: acl, orthopedics, research, sports medicine

About one in seven adults live with degenerative joint disease, also known as osteoarthritis (OA). In recent years, as anterior cruciate ligament (ACL) injury and other joint injuries have become more common among adolescent athletes, a growing number of 20- and 30-somethings have joined the ranks of aging baby boomers living with chronic OA pain. ... Read More

Tagged: acl, orthopedics, research, sports medicine

Infantile spasms: Speeding referrals for all infants

Posted on January 19, 2024 by Nancy Fliesler | Clinical Care, Research

Tags: epilepsy, health equity, medical training, neurology, newborn medicine, primary care

Infantile epileptic spasms syndrome (IESS), often called infantile spasms, is the most common form of epilepsy seen during infancy. Prompt diagnosis and referral to a neurologist are essential. Infantile spasms can present subtly, and research indicates that diagnosis is often delayed. Additionally, infants are especially likely to experience delays in referral to a neurologist if ... Read More

Tagged: epilepsy, health equity, medical training, neurology, newborn medicine, primary care

New leads for spinal cord injury: Mapping spinal-projecting neurons in the brain

Posted on January 17, 2024 by Nancy Fliesler | Basic/Translational, Research

Tags: neurology, neuroscience, spinal cord injury

Only a fraction of people who sustain a spinal cord injury fully regain their motor function. While rehabilitation can help, scientists have long looked for ways to regenerate injured nerve fibers — including, at Boston Children’s Hospital, Zhigang He, PhD, BM. As part of a collaborative effort by the BRAIN Initiative Cell Census Network, which ... Read More

Tagged: neurology, neuroscience, spinal cord injury