Researchers at Children's Hospital of Philadelphia have identified common gene variants that raise the risk of developing neuroblastoma, a childhood cancer. The study found that these variants are associated with deletions on chromosome 11q, which can be used to improve diagnostic capabilities.
A large study found that families of children treated with ECMO for heart conditions report positive outcomes regarding health and physical limitations. However, a higher rate of medical and behavioral issues were revealed through more detailed questioning, including learning disabilities in over 50% of patients.
Researchers have identified a protein called glypican-2 as a promising target for immunotherapy in treating high-risk childhood cancers. The protein is necessary for tumor growth and is overexpressed on cancer cells, making it an attractive target for therapies that harness the immune system.
A recent study suggests that variations in mitochondrial DNA originating from ancient human migrations may play a key role in predisposition to autism spectrum disorders. Individuals with specific European haplogroups had significantly higher risks of ASD compared to others.
Children's Hospital of Philadelphia will lead a collaborative effort to discover causes of childhood cancer and structural birth defects using big data. A centralized database and discovery portal will be created to share well-curated clinical and genetic sequence data from dozens of cohorts, comprising thousands of patients.
Researchers have identified a rare genetic syndrome characterized by intellectual disability, seizures, and distinctive facial features. The study, led by Matthew A. Deardorff, describes WDR26 haploinsufficiency syndrome and provides initial information for counseling patients and families.
The late adolescent years are a critical period for bone growth, with 10% of bone mass continuing to accumulate after adult height is reached. A study found that bone mineral density develops at different rates in different parts of the skeleton, highlighting the importance of considering growth trajectories when interpreting data.
Researchers from CHOP and Penn Medicine found that leakage from the liver's lymphatic system causes protein-losing enteropathy in single-ventricle heart disease patients. A novel intervention to seal off leaks improves symptoms and quality of life for these patients.
A recent study highlights the significant healthcare burden of mitochondrial disease in the US, with high medical costs and mortality rates among patients. The study found that hospitalizations for these disorders result in disproportionately higher costs and mortality rates compared to patients without mitochondrial disease.
A team of researchers has discovered that a DNA-cutting enzyme plays a broad role in driving abnormal genetic rearrangements, including translocations that cause cancer. The study identified specific sites of DNA damage along the entire genome of human leukemia cells.
A team of researchers has discovered how mutated proteins in a protein network drive several high-risk leukemias. The study suggests that an existing drug, ruxolitinib, may be repurposed to treat these leukemias and offers clues for developing novel drugs using precision medicine.
A recent study published in JAMA Pediatrics found that adolescents with ADHD have a 36% higher crash risk than other newly licensed teens, but this risk is still relatively low. The study suggests that evidence-based training and education for teens with ADHD who want to drive may help manage their risk.
CHOP researchers report universal liver fibrosis in survivors of the Fontan operation, a serious complication of the surgery. The study highlights the need for improved medical surveillance and less invasive methods to measure liver fibrosis.
A CHOP study reveals that adolescent males of color treated for violence-related injuries prioritize mental health services, including therapy and legal aid. Participants overwhelmingly identified safety needs, such as addressing peer relationships, after being discharged from the emergency department.
Researchers are developing a suite of quantitative assessment tools to enhance accuracy of sports-related concussion diagnoses using objective metrics such as eye tracking and cerebral blood flow. The study aims to create evidence-based criteria for policy, equipment design, and clinical practice.
Dr. Douglas C. Wallace received the Benjamin Franklin Medal in Life Science for his groundbreaking research on mitochondrial genetics. His work defined the genetics of DNA within mitochondria and reconstructed patterns of human evolution.
Researchers discovered genetic influences in 'type 1.5' diabetes that may offer clues for more accurate diagnosis and treatment. The study found that LADA is closer to T1D than T2D, suggesting some patients with adult-onset type 2 diabetes may have late-onset type 1 diabetes.
Researchers found higher rates of brain abnormalities in children with single-ventricle disease as staged surgeries progressed. Cerebral blood flow measurements showed a potential link to brain lesions, but more investigation is needed to confirm causality.
Researchers at CHOP have developed a unique womb-like environment to support growth and organ maturation in extremely premature babies. The system, tested on fetal lambs, has shown promising results, with some animals remaining healthy after 28 days of operation.
Dr. Beverly Davidson has been elected to the American Academy of Arts and Sciences, a testament to her outstanding contributions to neuroscience. Her research focus on understanding molecular basis of neurodegeneration in inherited brain disorders has made significant impact.
A new study from the Children's Hospital of Philadelphia finds that nearly 90% of teens with ASD obtain their intermediate driver's license within two years of becoming eligible. Most teens with ASD receive their license in their 17th year, suggesting families make the decision to drive before their teen gets behind the wheel.
A new study uses magnetic resonance imaging to identify infants at high risk for developing autism by age two, with over 90% accuracy. The research found that rapid growth of the brain's surface area is a key indicator of autism risk.
A group of medical experts has issued new clinical guidelines for managing children and adolescents with growth failure, recommending hormonal treatments for certain conditions but cautioning against routine use in cases of unknown cause. The guidelines aim to balance medical needs with potential risks and long-term consequences.
Pediatric experts warn that consumer-use baby monitors may cause undue alarm to parents and have no evidence of medical benefits for healthy babies. The devices, marketed aggressively to parents, promise peace of mind about their child's cardiorespiratory health but have been shown to be inaccurate and potentially harmful.
A recent clinical trial found that controlling critically ill children's blood sugar levels within a usual care range does not offer significant benefits. In contrast, lower targets increased the risk of hypoglycemia without providing extra advantages.
The Philadelphia Pediatric Medical Device Consortium awarded $50,000 grants to three companies developing innovative medical devices for children. These devices include a powered orthotic arm brace, a hand-operated rapid blood delivery system, and an ear reshaper designed to correct deformed ears in babies.
Researchers developed new imaging tools to diagnose abnormal pulmonary flow of lymphatic fluid in adults with plastic bronchitis. The procedure involves catheterization and treatment with glue and coils to halt lymphatic fluid flow, resulting in complete or partial resolution of symptoms in six out of seven patients.
Researchers mapped the molecular pathways and signaling circuits of CD8+ T cells responding to infections and cancer. They identified novel biological pathways and discovered highly dynamic processes as these cells develop. The study aims to help advance vaccine development and cancer immunotherapy.
Using cardiac imaging during heart surgery can detect serious residual holes in the heart that may occur when surgeons repair a child's heart defect. Pediatric experts say this tool, called transesophageal echocardiography (TEE), improves outcomes for children with congenital heart disease.
A new study analyzes asthma patients' living conditions, revealing stark poverty, poor housing, and limited access to healthcare. Community health workers report patients' emotional struggles, including feelings of hopelessness and depression.
A new study by PolicyLab found that only 20% of medically diagnosed child abuse and neglect cases in US Army dependent children between 2004 and 2007 were substantiated. The rate is significantly lower than the civilian Child Protective Services rate, suggesting under-reporting or a breakdown in communication.
Researchers reported the highest and most sustained levels of clotting factor IX in hemophilia B patients after a single dose of experimental gene therapy. Patients were able to discontinue factor infusions and engage in normal activities without disabling bleeding episodes, significantly improving their quality of life.
A global multicenter trial of CAR T cells reported high complete response rates (82%) in children and young adults with relapsed or refractory acute lymphoblastic leukemia. A single-center pilot trial using humanized CAR T cells showed comparable effectiveness with reduced side effects.
A new study found that pediatricians in the US underdiagnose hypertension and prehypertension in children aged 3 to 18 by as much as 95%, leading to inadequate treatment. The study analyzed electronic health records of over 400,000 children and revealed that only 6% of those with diagnosed hypertension received prescribed medication.
A study of over 3,900 US children who suffered cardiac arrest outside a hospital found that those receiving bystander CPR had better survival rates and neurological outcomes. Racial disparities in CPR provision were also noted, highlighting the need for education interventions to improve minority community access.
A new study found that patients with rare primary immunodeficiency disorders may be susceptible to serious side effects from the rubella vaccine. The study analyzed data from 14 patients and found that 7 had evidence of persistent rubella virus in their granulomas, leading to skin damage and ulcers.
Researchers warn that current ADHD screening tools may not work for children with autism spectrum disorders, leading to misdiagnosis and potentially ineffective treatments. The study recommends refining the tool and supplementing it with clinical interviews to better identify the correct disorder.
For the first time, fetal medicine experts have performed prenatal heart surgery to remove a life-threatening tumor, called intrapericardial teratoma. The patient is now a healthy preschooler after undergoing the operation at 24 weeks of gestation.
Blocking furin protein may offer unexpected benefits for patients with hemophilia A. Gene therapy and protein replacement treatments may be more effective with this approach.
A genetic study has pinpointed a gene variant associated with childhood ear infections, providing an early clue for developing more effective treatments. Researchers found that children with the variant are more susceptible to acute otitis media (AOM), a painful condition requiring antibiotics.
A new study reveals that a variant in the ACSL5 gene, located at a well-established genomic location, is strongly regulating another gene associated with type 2 diabetes. This finding suggests that developing drugs to act on acyl CoA synthesase 5 may help patients with T2D by increasing their sensitivity to insulin.
A new study found that children with a history of food allergy are more likely to develop asthma and allergic rhinitis, with rates roughly doubling in those with peanut, milk, and egg allergies. The study analyzed data from over 1 million urban and suburban children.
A relational aggression prevention program for urban girls improves overall classroom climate, with benefits extending to boys and teachers. The program, Friend to Friend (F2F), teaches problem-solving, anger management strategies, and leadership skills.
Researchers have identified a new genetic syndrome tied to defects in protein transport, causing craniofacial abnormalities and developmental delays. The study found that mutations in the ARCN1 gene disrupt normal protein trafficking, leading to intellectual disability and bone development issues.
Researchers have developed a novel genetically engineered clotting factor that can rapidly reverse bleeding in animal models. The factor, FXaI16L, safely restores blood-clotting ability and significantly reduces bleeding when infused before or during an active bleed.
Researchers found significant differences in hospital practices for treating children with asthma, including varied costs and resource use. The study's template matching tool enabled a more refined comparison of hospitals' resource use at the patient level.
A new study by Children's Hospital of Philadelphia researchers found that Medicaid status has little effect on inpatient costs, length of stay, and use of intensive care units for children hospitalized for asthma. The study analyzed over 17,000 pairs of pediatric asthma patients from 40 major US children's hospitals.
National experts recommend steps to integrate genomics into clinical practice, addressing challenges such as interpreting DNA findings, patient education, and sharing data across centers. The recommendations provide guidance for clinicians and patients on how to use genomic testing results in making health care decisions.
Researchers at Children's Hospital of Philadelphia discovered a novel mechanism by which viruses shut down alarm signals that trigger immune responses. By trapping an important signaling molecule inside the cell nucleus, viral protein VII prevents it from sounding an alarm to the immune system.
A study by CHOP researchers found gaps in knowledge and communication about ASD treatment choices, leading to difficulties in sharing treatment decisions. The authors suggest using tools like decision aids and practice guidelines to foster effective communication between families and pediatricians.