A new study reveals that children with autism spectrum disorder (ASD) and developmental delays are up to 50% more likely to be overweight or obese compared to the general population. Children with severe ASD symptoms are at an even higher risk, being 1.7 times more likely to be classified as overweight or obese.
A recent GWAS analysis of latent autoimmune diabetes in adults (LADA) has uncovered new connections to type 1 and type 2 diabetes, suggesting a hybrid nature of the disorder. The study found that genetic signals linked to LADA were mainly shared with established variants known to be linked to T1D.
Researchers identified a genetic susceptibility locus on chromosome 5 that predisposes African-American children to migraines. The study suggests that genes involved in neurotransmitter release may be targeted for future migraine treatments.
A team of researchers has created an automated program to screen for malnutrition in hospitalized children, using existing patient data in electronic health records. The study found a high prevalence of malnutrition among pediatric oncology patients, with 42% overall and varying levels of severity.
Researchers have devised a novel method to block abnormal biological signals driving the rare and fatal disease Fanconi anemia. Inhibiting a regulatory protein called Sh2b3/Lnk restored bone marrow cell function and improved genome integrity in animal studies, providing hope for better treatments for children with the disease.
Scientists have performed prenatal gene editing to prevent a lethal metabolic disorder in laboratory animals, offering the potential to treat human congenital diseases before birth. Using CRISPR-Cas9 and base editor 3, researchers reduced cholesterol levels and improved liver function in mice treated in utero.
Researchers sequenced RNA in 20,000 cardiac cells, uncovering a broad variety of cell types in healthy and diseased hearts. The study found great diversity among each cell type, as well as indications of functional changes during normal and diseased conditions.
A new model is proposed to generate ongoing automated updates for genetic test results, allowing clinicians to better communicate relevant information to patients. This could enable personalized medicine by providing continuous interaction between clinics and labs, reanalysis of changing data, and more accurate diagnoses.
After severe weather events, households may use generators, leading to carbon monoxide (CO) poisonings. CO is a silent killer with no odor or taste, caused by malfunctioning appliances, and can cause coma, heart attack, and death. Regular appliance checks and generator usage precautions can prevent CO poisoning.
Researchers discovered that mitochondrial DNA (mtDNA) variants interact with nuclear DNA mutations to determine the severity of heart disease in mice. Different mtDNA variants conferred either worsened or protected heart damage, suggesting a key role for mtDNA in cardiomyopathy progression.
Researchers identified a gene mutation causing abnormal lymphatic circulation and restored normal vessel architecture using signal inhibitors. The study may lead to a new therapy for patients with central conducting lymphatic anomaly, a complex condition affecting immune function and fat transport.
The European Commission has approved Kymriah, a personalized CAR T-cell gene immunotherapy, for treating pediatric and young adult patients with aggressive blood cancers. The therapy has shown strong and durable response rates, providing a new hope for young cancer patients in Europe.
Researchers tested two commercially available baby monitors, finding that one detected low oxygen levels inconsistently while the other falsely displayed low pulse rates. These alarming results highlight the need for regulation of these products to prevent unnecessary anxiety and medical interventions in healthy infants.
The Philadelphia Pediatric Medical Device Consortium has awarded seed grants to six companies developing medical devices for children, including an airway clearance system and a vision acuity test. These innovative devices aim to address unmet clinical needs in pediatric care, such as cystic fibrosis and urinary flow disorders.
Dr. Diane Spatz's 10-Step model provides a critical framework for lactation care, focusing on vulnerable infants separated from mothers. The system has been implemented globally and is grounded in research findings and clinical experience.
Scientists have discovered a protein called HRI that regulates hemoglobin production in red blood cells, potentially leading to a breakthrough treatment for sickle cell disease. Blocking the activity of this enzyme reduces characteristic sickling and improves red blood cell function.
Researchers at CHOP developed a new method to determine which premature infants should be screened for retinopathy of prematurity (ROP), which leads to blindness in 400-600 US infants each year. The criteria were highly sensitive and accurate, reducing the number of premature infants who would require examinations by 30.3%.
A new study from Children's Hospital of Philadelphia found that about half of parents talked on a cell phone while driving with their children between ages 4 and 10. The study also identified correlations between cell phone use and other risky driving behaviors, such as not wearing a seat belt or driving under the influence. Researcher...
Researchers found that children with multiple allergies are nine times more likely to develop eosinophilic esophagitis. The study suggests a common underlying biological cause among these allergies and implies that early treatment of one allergy may prevent later disorders.
Researchers found that honey and sucralfate significantly reduce morbidity and mortality from highly caustic batteries. Ingesting honey before removing a button battery may protect against serious injuries in small children. The study's findings will inform clinical practice and guidelines for managing button battery ingestions.
A study by CHOP researchers found that patients with mitochondrial disease prefer self-administered treatments, daily treatment, and guaranteed access. However, they are less likely to participate if they need to discontinue their current medications or undergo invasive procedures.
Researchers found a significant association between oral antibiotic use and an increased risk of developing kidney stones in children and adults. The study suggests that disruptions in the intestinal and urinary microbiome may contribute to the occurrence of kidney stones.
A review of nearly 500 patient cases shows that surgery can cure virtually all patients with focal congenital hyperinsulinism. Surgery also prevents complications in patients with the diffuse form, where defective insulin-producing cells occur throughout the pancreas.
Dr. Paul Offit, Director of Vaccine Education Center at Children's Hospital of Philadelphia, receives the 2018 Albert B. Sabin Gold Medal for his groundbreaking work on an oral rotavirus vaccine that has saved thousands of children's lives globally. He is recognized for his tireless advocacy for immunization and leadership in promoting...
Researchers found that a defective protein in Huntington's disease disrupts the mTORC1 pathway, leading to cardiac problems. Adjusting this pathway improved heart function in experimental animals, offering new insights into the biology of the disease.
Researchers at Children's Hospital of Philadelphia have identified a brain pathway that, when stimulated, leads to 'antidepressive' behavior in animals. The study suggests that targeting this circuit could lead to a novel treatment for depression.
A new staging system for children with chronic kidney disease (CKD) predicts the length of time until a child will need a transplant or dialysis. The system takes into account three factors: glomerular filtration rate, proteinuria, and disease etiology.
Researchers found two compounds effective in prolonging lifespan and protecting against brain damage in animal models of mitochondrial disease. These findings suggest that N-acetylcysteine and vitamin E may be viable leads for clinical trials to treat mitochondrial disease, which has no proven effective treatments.
Researchers have discovered a novel mechanism underlying severe childhood neurodegeneration, caused by gene mutations that disrupt mitochondrial energy production. The study found that these mutations interfere with the function of an enzyme involved in protein transport into mitochondria.
Researchers discovered a 'missing mutation' in SCN3A gene that causes severe infantile epileptic encephalopathy. Early anti-seizure medications may prevent disabling brain injury by controlling epilepsy shortly after birth.
Pediatric cardiovascular disease research highlights modifiable factors predicting mortality after prolonged critical illness following congenital heart surgery. Smaller aortic isthmus size is associated with earlier surgical timing in complete common atrioventricular canal defects, indicating potential for improved outcomes with tailo...
Infants fed soy-based formula had differences in reproductive-system cells and tissues, including subtle estrogen-like responses, compared to those on cow-milk formula or breastfed. Further investigation is needed to understand the long-term effects of exposure to estrogen-like compounds.
A retrospective study found that intravenous arginine treatment led to clinical improvements and no adverse effects in children with mitochondrial disease after acute metabolic strokes. The treatment resulted in partial or complete reversal of symptoms such as seizures, paralysis, and low muscle tone in 47% of patients.
A team of experts from around the world collaborated to develop a program to treat bladder exstrophy in children, resulting in improved patient outcomes and long-term sustainability. The program, which includes rigorous patient follow-up and training of local surgeons, has transformed care for children born with this complex disorder.
Scientists identified a new type of lung stem cell that can regenerate lung tissue after injury. The discovery could lead to innovative treatments for lung diseases in both children and adults, including premature infants and those with chronic obstructive pulmonary disease.
Researchers studying a rare genetic disorder in children have discovered insights into biological mechanisms that drive the disease, including abnormal autophagy. They also identified a urine test as a biomarker for the disorder, which may help monitor response to treatment and develop precision medicine.
A study of 348 preschoolers who survived cardiac surgery found hearing loss in 21.6% of children, associated with language and cognitive problems by age four. Researchers recommend early hearing evaluations between 24-30 months to increase timely medical intervention.
A global clinical trial of CAR T-cell therapy tisagenlecleucel found that 61% of children and young adults achieved complete remission after treatment, with durable responses lasting months or years. Most side effects were short-lived and reversible, with overall survival rates exceeding 90% at six months.
A study of 30,000 patients found that narrow-spectrum antibiotics performed equally well or better than broad-spectrum ones in treating common respiratory infections. Narrow-spectrum antibiotics had fewer adverse events and disruptions to family routines, while treatment failure rates were not significantly different.
Researchers detected massive changes in how sensations from hands are represented in a child's brain before and after a successful double hand transplant. The brain remapping is thought to have begun six years before the transplant and reverted toward a more typical pattern after receiving transplanted hands.
A new gene therapy has successfully produced sustained levels of clotting factor in adult hemophilia B patients, eliminating the need for regular infusions. The treatment, which uses a highly active variant of the clotting factor, achieved significant clinical benefits with no adverse effects.
Researchers from Children's Hospital of Philadelphia highlighted racial disparities in bystander CPR methods and found that children with hypertrophic cardiomyopathy are at risk for sudden cardiac death. Targeted training may increase bystander CPR rates and improve outcomes.
A study found that genetic determinants of puberty timing are associated with lower bone mineral density in childhood and adulthood. Later puberty is linked to lower bone mineral density, especially in the lower spine, increasing the risk of osteoporosis and bone fractures.
A study found that PDA stent placement offered better outcomes than traditional BT shunt operation for infants with ductal-dependent pulmonary blood flow, particularly in experienced centers. Patients who received stents had fewer complications, shorter ICU stays, and larger, more symmetric pulmonary arteries.
A study published in JAMA Dermatology found that high-quality photographs taken by parents with their smartphones can accurately diagnose pediatric skin conditions without an office visit. The results showed a 83% agreement between photograph-based and in-person diagnoses, paving the way for improved access to care through telemedicine.
Researchers from CHOP and Penn Nursing found that mindfulness can be a helpful tool for mothers to pause and be present in the moment, reducing stress and improving focus. The study suggests that mindfulness should start early, preferably immediately after the prenatal CHD diagnosis, and can be more accessible than traditional meditation.
A new federally funded program aims to strengthen development of innovative pediatric medicines and devices by incorporating best practices and novel approaches. The Institute for Advanced Clinical Trials for Children will lead the initiative, which includes several other organizations committed to children's health.
The new guidelines address a broad range of medical specialties and special issues encountered by patients, including pregnancy and high-altitude travel. The recommendations compile a list of medications that must be used with caution or avoided in patients with mitochondrial disease.
Childhood low-grade gliomas, the most common type of brain tumor in children, exhibit distinct biological differences driven by mutated genes. These findings may guide personalized treatments for individual patients and provide insights into developing more effective anticancer therapies.
The Philadelphia Pediatric Medical Device Consortium has awarded $50,000 in seed grants to Voxello and InfraScan for developing speech-generating systems and handheld scanners for detecting intracranial bleeding in children.