Researchers at Children's Hospital of Philadelphia have created a new outcome measure called 'Mitochondrial Myopathy-Composite Assessment Tool' (MM-COAST) to monitor disease severity in patients with mitochondrial disease. The tool evaluates key aspects of disease, including muscle weakness, fatigue, and exercise capacity, providing in...
A new study by Children's Hospital of Philadelphia finds that bystander CPR using only chest compression has similar outcomes to not using CPR at all for infants experiencing cardiac arrest. In contrast, children who received CPR with rescue breathing had nearly 1.5 times better neurological outcomes.
Researchers created a polymer coating that releases Lasioglossin-III, an AMP with broad-spectrum antibacterial activity, targeting specific infectious bacteria and preventing airway complications. The coating demonstrated significant antibacterial activity and prevented bacterial adherence to the tube.
Researchers identified two proteins, HMW1 and HMW2, that stimulate protective immunity against diverse NTHi strains. Immunization with these proteins provides protection against bacterial colonization by other strains, highlighting the vaccine potential for a nontypeable Haemophilus influenzae vaccine.
Researchers at Children's Hospital of Philadelphia have developed a system that can fine-tune protein expression from gene therapy vectors, addressing the need for controlled dosing. The 'dimmer switch' uses alternative RNA splicing and an orally available small molecule to adjust levels of expression up or down as needed.
In a proof-of-concept study, researchers used DNA base editing in a prenatal mouse model to correct the single base mutation responsible for Hurler syndrome. The treatment demonstrated increased survival and improvement of metabolic, skeletal, and cardiac disease in prenatally treated mice.
Type II alveolar cells, a major cell type infected by SARS-CoV-2, possess high levels of MHC-II and play a role in improving the outcome of respiratory viral infections. AT2 MHC-II expression is unique and triggers an immune cascade that activates helper T cells.
A study found that frequent cell phone use while driving is associated with other risky driving practices in young adults, including impulsivity and sensation seeking. The study suggests that targeting all risky behaviors rather than just cell phone use may be more effective in preventing crashes.
Researchers found that ADHD medications were associated with reduced suicidal behavior and thoughts in preadolescent children with externalizing behaviors. Children taking ADHD medications had lesser odds for suicidality, suggesting a moderating role for these medications.
Researchers used standardized reporting of clinical data to determine the most effective methods for controlling seizures in pediatric epilepsy patients. The study found that using telemedicine had no impact on seizure frequencies and that certain patient demographics were more likely to experience worsening seizures.
Researchers at Children's Hospital of Philadelphia have developed a proof-of-concept treatment that can elevate adult and fetal hemoglobin levels simultaneously. The approach combines two tactics into a single gene therapy vector, which has shown promising results in vitro.
Researchers discovered that mitochondrial dysfunction is linked to schizophrenia in patients with 22q11.2 deletion syndrome, who are 25 times more likely to develop the condition. Increased mitochondrial biogenesis is associated with the absence of schizophrenia.
Researchers have discovered new genetic variants responsible for neurodevelopmental disorders, including intellectual disabilities and developmental delays. These variants affect chromatin remodeling genes, leading to abnormalities in brain function and development.
Researchers found a significant association between COVID-19-related income loss and financial strain with depressive symptoms, independent of anxiety. Participants who experienced a decrease in income over the study period reported an increase in depressive symptoms.
Researchers discovered a new disease that prevents antibody formation, treating it with a bone marrow transplant from a sibling donor. The study found that the genetic mutation responsible for PU.MA affects B cell development and chromatin accessibility.
A recent study found that children on the autism diagnostic border exhibit dynamic presentations of clinical features, leading to increased susceptibility of gaining or losing their diagnosis over time. The researchers used machine learning to empirically characterize the classification boundary between ASD and non-ASD participants.
A collaborative study identified strengths and challenges autistic teens face while learning to drive. Researchers recommend scaffolded instruction and caregiver-supervised practice to overcome obstacles. Autistic drivers show similar crash rates to non-autistic peers, with lower license suspension rates.
A new visio-vestibular examination (VVE) has been found to enhance concussion diagnosis and management in young athletes. The VVE involves brief eye movement and balance tests identifying deficits in brain function involving the visual and vestibular systems.
A CHOP-led research study found that B cell activating factor (BAFF) levels are elevated in patients resistant to coagulation protein therapy, suggesting a potential target for new treatments. Anti-BAFF therapies combined with immune tolerance therapies may tame the immune response in some patients with severe hemophilia A.
Researchers found that supplement N-acetyl-cysteine prevents formation of amyloid proteins, potentially leading to treatments for certain forms of dementia. The study suggests that the supplement could reduce risk of strokes and brain hemorrhages in patients with hereditary cystatin C amyloid angiopathy.
A large study from Children's Hospital of Philadelphia found that soccer had the highest head impact rate for both boys and girls, attributed to intentional headers. Basketball and field hockey had lower but still significant head impact rates, with notable differences between male and female athletes.
Researchers mapped over 400 patients with SCN2A-related disorders, linking genetic abnormalities to clinical features. The study provided a framework for precision medicine approaches to help individuals with these conditions.
Researchers at Children's Hospital of Philadelphia have identified genes responsible for hematopoietic stem cell regeneration via ribosome assembly. This finding enhances our understanding of the importance of proper ribosome assembly in stem cell regeneration and identifies possible targets for future therapies for ribosomopathies, ch...
Researchers from Children's Hospital of Philadelphia have determined the process of lung alveolus formation and identified signaling hubs that coordinate cell development. The study provides crucial insights into developing therapies to regenerate critical lung tissue and repair damaged tissue at a cellular level.
A study published in Genome Biology found that small changes in RNA due to RNA editing can have large effects on gene expression and phenotype. The researchers identified 3,117 unique RNA editing events associated with genetic variation, including those linked to complex traits or diseases.
A study by Children's Hospital of Philadelphia researchers has identified a combination therapy that provides measurable benefits to patients with mitochondrial respiratory chain disorders. The treatment, which includes glucose, nicotinic acid, and N-acetylcysteine, showed improved lifespan, mitochondrial membrane potential, and preven...
Researchers found highly activated T cells and vascular patrolling CD8 T cells in children with MIS-C, which subsided with clinical improvement. The study provides a broad immunologic foundation for understanding pathogenesis and recovery in this novel SARS-CoV-2-associated inflammatory syndrome.
Researchers at Children's Hospital of Philadelphia analyzed seven patients with MIS-C-associated rashes and found several common types, including small-to-medium annular plaques on the chest and back, and purpura in the center. The study aims to help doctors and parents identify suspicious rashes and seek further examination.
Children who received prenatal repair of their spina bifida had better gross and fine motor skills, stronger leg muscles, and were more likely to walk independently up to 10 years after surgery. They also showed improved self-care skills and a higher quality of life compared to those who underwent postnatal repair.
A recent study published in the Proceedings of the National Academy of Sciences found that defects in mitochondria may contribute to autism spectrum disorder. The researchers introduced a mild missense mutation into a mouse strain and observed impaired social interactions, increased repetitive behaviors, and anxiety-like traits.
Researchers at Children's Hospital of Philadelphia developed a new gene therapy vector that produces more hemoglobin with a lower dose, minimizing toxic side effects. The vector, ALS20, was found to be significantly more effective than current vectors in treating beta-globinopathies.
A study found that young autistic drivers have lower rates of moving violations and license suspensions, as well as similar crash rates compared to non-autistic peers. However, they were more likely to be involved in crashes while making left- or U-turns and failing to yield for other vehicles or pedestrians.
Research found no statistically significant difference in concussion recovery time between males and females, but subtle differences were seen in contact and limited contact sports, suggesting differential access to athletic training and medical resources may be contributing factors
A study of 1,347 pediatric tumors found NTRK fusions in 29 cases, detected in 13% of papillary thyroid carcinomas and 1.9% of CNS tumors, offering new insights into prioritizing screening for targeted treatment with TRK inhibitors.
A Phase 2 clinical trial has demonstrated the efficacy of cabozantinib in reducing tumor volume and pain in patients with neurofibromatosis type 1. The treatment showed a partial response in 42% of patients, with significant reductions in tumor pain intensity.
A new study by Children's Hospital of Philadelphia found that youth with a family history of suicide attempts have lower executive functioning and poorer language reasoning. The study suggests cognitive-behavioral therapy and early intervention may help address these issues.
A long-term study has discovered dozens of new genetic markers associated with bone mineral accrual, which could help identify causes of osteoporosis earlier in life through genetic testing. The findings suggest that risk of fractures occurring later in life may be identifiable in childhood and could lead to tailored interventions.
A study found that nearly half of adolescents who sought specialty care for a concussion were back to driving within two weeks, despite few returning to exercise and sports. The researchers recommend a staged approach to cognitive activities, including driving, with clinicians implementing a gradual return-to-driving protocol.
Researchers at Children's Hospital of Philadelphia found elevated levels of a biomarker related to blood vessel damage in children with SARS-CoV-2 infection. The study also showed that a high proportion of children met clinical criteria for thrombotic microangiopathy, a syndrome involving clotting in small blood vessels.
A study analyzing over 100,000 births in Philadelphia found no significant changes in preterm birth or stillbirth rates during the first four months of the pandemic. Researchers compared data from 2020 to previous years and found no difference in preterm or stillbirth rates, contradicting earlier reports of a decline.
A large prospective study found a link between kidney injuries and cognitive impairment in children with diabetic ketoacidosis. The study suggests that the presence of acute kidney injury is associated with lower IQ scores and subtle cognitive impairment.
A study of over 135,000 pediatric patients found that 4% tested positive for SARS-CoV-2, with severe disease seen in 7%, mostly among those with underlying medical conditions. Children from ethnic minorities and adolescents were more likely to test positive.
Researchers at Children's Hospital of Philadelphia (CHOP) resolved a severe lymphatic disorder in a girl with Noonan Syndrome by targeting the SOS1 gene pathway. The treatment, an MEK inhibitor, led to a resolution of symptoms within three months and complete remodeling of her lymphatic system.
A team of experts recommends five principles to ensure equitable COVID-19 vaccine distribution, including diverse participation in clinical trials and transparent data review. The plan aims to prioritize vulnerable populations and overcome financial barriers to vaccination.
Genetic correlations between IBD, stress, and depression have been uncovered through 3D genomic mapping, implicating the hypothalamus in IBD pathogenesis. The study found enrichment of IBD-associated genetic variants in hypothalamic-like neurons and colonoids.
A young woman with kaposiform lymphangiomatosis was treated with a MEK inhibitor, resulting in complete resolution of symptoms and remodeling of her lymphatic system within months. The treatment showed promise for other patients with lymphatic disorders.
Researchers from Children's Hospital of Philadelphia demonstrate the effectiveness of virtual driving assessments in identifying safety-critical skill deficits and providing personalized feedback. The tool has been shown to be valid, feasible, and efficient, with a potential to reduce crashes and improve driver safety.
A study found that non-driving-related license suspensions are given to over 90% of drivers in New Jersey, affecting low-income neighborhoods and communities of color. These suspensions disproportionately limit access to employment and healthcare, with failure to pay fines being the most common reason.
A study by Children's Hospital of Philadelphia researchers has identified a cellular pathway that can be targeted with a naturally occurring drug to stimulate lung tissue regeneration. The findings could lead to better therapies for patients with lung diseases, including acute respiratory distress syndrome (ARDS) due to COVID-19.
Researchers at Children's Hospital of Philadelphia developed a new study using a handheld device to measure pupil response to light, revealing clear differences between concussed and healthy adolescent athletes. The study found significant variations in pupil diameter, constriction, and dilation velocity among concussed athletes.