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Risdiplam improves motor function in infants with spinal muscular atrophy

Posted on by | Clinical, Research
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Until recently, babies and children with spinal muscular atrophy (SMA) lacked any type of treatment capable of stopping the neuromuscular disease from progressing. In SMA, damaged motor neurons in the spinal cord fail to correctly send messages to the muscle cells. As a result, infants and children with SMA may not be able to hold ... Read More
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A lot better than surgery: Jesse’s treatment for pectus excavatum

Posted on by | Patient Stories
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Like many growing boys, Jesse Zuniga went through a growth spurt when he was 12. Around that time, his pediatrician noticed an indentation in his chest. Neither he nor his mother, Sarah, had heard of pectus excavatum or vacuum bell therapy before. Soon they would be experts in both. Also known as concave chest or ... Read More
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Gait analysis gives runners a window into their form

Posted on by | Clinical Care, Specialty Care
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Why can some runners compete in marathon after marathon while others get injured? The answer often lies in the runner’s form. According to Dr. Kristin Whitney, co-director of the Injured Runners Clinic at Boston Children’s Hospital, many runners aren’t aware of subtleties like how hard their feet hit the ground or the angle of their ... Read More
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Thickened feeds — but not acid-suppressing medications — help treat laryngomalacia in infants

Posted on by | Research
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In laryngomalacia, the soft tissues of the larynx fall over the airway opening and partially block it, which can result in stridor, feeding difficulties, and other symptoms. Infants with this condition are frequently treated with acid-suppressing medications, based on the belief that gastroesophageal reflux might worsen the problem. However, there’s little evidence to support the ... Read More
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“I am a superhero”: Joecel and his mom work to address feeding challenges

Posted on by | Patient Stories
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Joecel Castillo loves Spiderman, Batman, He-Man — and pancakes. They’re the sorts of favorites that might show up on any 5-year-old’s list, but Joecel isn’t just any 5-year-old. In fact, until recently, pancakes wouldn’t have been among his favorite things. Very few foods would have been. “He wouldn’t even eat his own birthday cake,” says ... Read More
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Why do some people get severe COVID-19? The nose may know

Posted on by | Basic/Translational, Research
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The body’s first encounter with SARS-CoV-2, the virus behind COVID-19, happens in the nose and throat, or nasopharynx. A new study in the journal Cell suggests that the first responses in this battleground help determine who will develop severe disease and who will get through with mild or no illness. Building on work published last ... Read More
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Austin’s story: Raising awareness after treatment for pediatric stroke

Posted on by | Patient Stories
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In May, 11-year-old Austin Rizzo led the pack in a two-mile road race of his own creation. But the race, named the Banana Split 2-Miler after his favorite fruit, was more than just a fun way to pass time — it was aimed at raising money to support research into pediatric stroke. It’s a topic ... Read More
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The surprisingly specific genetics of joint disease

Posted on by | Basic/Translational, Research
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A new study provides unexpected insights into the biology of two common, heritable orthopedic conditions: developmental dysplasia of the hip (DDH) and knee osteoarthritis (OA). The findings, published July 6 in Nature Communications, show how a gene can have different effects in different parts of the body. They also raise the possibility of preventive measures ... Read More
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New technique designed specifically for children gives surgeons another moyamoya treatment option

Posted on by | Research
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Moyamoya is rare blood vessel condition that is a major cause of pediatric stroke. Surgical revascularization can be very effective; however, anterior cerebral territory ischemia can occur after treatment, particularly in children with delayed disease progression. The current surgical treatments for anterior cerebral territory ischemia in pediatric patients are challenging: Complex, high-risk procedures haven’t been ... Read More
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A surprising diagnosis leads to treatment for Liam’s liver cancer

Posted on by | Patient Stories
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For Liam Dickerson, what started as a simple sick day turned into a journey he never could have expected. In 2018, he wasn’t feeling well and paid a visit to his high school’s nurse. Although he was experiencing chest and under arm pain, the nurse worried that he might have appendicitis and recommended he see ... Read More
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