Researchers have demonstrated how one combination of therapies may be beneficial for patients with mitochondrial respiratory chain disorders. This preclinical research paves the way to develop more tailored treatment options for patients with inherited mitochondrial disease and acquired energy disorders.
In a study published in Open Forum Infectious Diseases, researchers at Children’s Hospital of Philadelphia (CHOP) describe the array of rashes seen in MIS-C patients at their hospital through late July 2020, providing photos and information that could help doctors diagnose future cases.
Adding to a growing body of research affirming the benefits of fetal surgery for spina bifida, new findings show prenatal repair of the spinal column confers physical gains that extend into childhood. The researchers found that children who had undergone fetal surgery for myelomeningocele, the most severe form of spina bifida, were more likely than those who received postnatal repair to walk independently, go up and down stairs, and perform self-care tasks like using a fork, washing hands and brushing teeth. They also had stronger leg muscles and walked faster than children who had their spina bifida surgery after birth.
Researchers have demonstrated that autism spectrum disorder (ASD) may be caused by defects in the mitochondria of brain cells.
A collaborative study found that compared with their non-autistic peers, young autistic drivers have lower rates of moving violations and license suspensions, as well as similar to lower crash rates.
Researchers found female and male collegiate athletes take approximately the same amount of time to recover from a concussion, with subtle differences in recovery time depending on the type of sports being played and the division level of the sport. The findings suggest that equity in access to sports medical care among college athletes may be contributing to these similar outcomes.
In a large study of pediatric cancer patients, researchers from Children’s Hospital of Philadelphia (CHOP) have analyzed the frequency, fusion partners, and clinical outcome of neurotrophic tyrosine receptor kinase (NTRK) fusions, which are clinical biomarkers that identify patients suitable for treatment with FDA-approved TRK inhibitors. The researchers found that NTRK fusions are more common in pediatric tumors and also involve a wider range of tumors than adult cancers, information that could help prioritize screening for NTRK fusions in pediatric cancer patients who might benefit from treatment with TRK inhibitors.
Researchers at Children’s Hospital of Philadelphia and the School of Engineering and Applied Science at the University of Pennsylvania have identified ionizable lipid nanoparticles that could be used to deliver mRNA as part of fetal therapy. The proof-of-concept study, published today in Science Advances, engineered and screened a number of lipid nanoparticle formulations for targeting mouse fetal organs and has laid the groundwork for testing potential therapies to treat genetic diseases before birth.
Children and adolescents with a family history of suicide attempts have lower executive functioning, shorter attention spans, and poorer language reasoning than those without a family history, according to a new study by researchers from the Lifespan Brain Institute (LiBI) of Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania. The study is the largest to date to examine the neurocognitive functioning of youth who have a biological relative who made a suicide attempt.
A multidisciplinary team of researchers has discovered several genetic markers associated with bone mineral accrual, which could ultimately help identify causes of eventual osteoporosis earlier in life through genetic testing
Researchers found that nearly half of adolescents who sought specialty care for a concussion were back to driving when asked approximately two weeks after the injury, even though few had returned to exercise and sports.
Researchers at Children’s Hospital of Philadelphia (CHOP) have found elevated levels of a biomarker related to blood vessel damage in children with SARS-CoV-2 infection, even if the children had minimal or no symptoms of COVID-19. They also found that a high proportion of children with SARS-CoV-2 infection met clinical and diagnostic criteria for thrombotic microangiopathy (TMA). TMA is a syndrome that involves clotting in the small blood vessels and has been identified as a potential cause for severe manifestations of COVID-19 in adults.
Despite early reports suggesting a decline in preterm births during the COVID-19 pandemic period, an analysis by researchers at Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania has found no change in preterm births or stillbirths at two Philadelphia hospitals in the first four months of the pandemic. The findings, published today in JAMA, resulted from the examination of an ongoing, racially-diverse pregnancy cohort that assesses both spontaneous and medically-indicated preterm birth.
Researchers have identified factors that make children with diabetic ketoacidosis more likely to experience acute kidney injury. Analyzing data from a large, multicenter clinical trial, the researchers also found that children who experience acute kidney injury are more likely to also experience subtle cognitive impairment and demonstrate lower IQ scores, suggesting a pattern of multiple organ injury.
In the largest U.S. study of its kind to date, researchers at Children’s Hospital of Philadelphia (CHOP) and other PEDSnet sites report that of more than 135,000 pediatric patients tested for SARS-CoV-2 in pediatric health systems, 4% tested positive for the virus. However, the researchers also found patients from ethnic minorities, adolescents, patients with history of public insurance, and those with certain underlying medical conditions were more likely to test positive. More severe disease was seen in 7% of children with positive tests, with similar risk factors.
Researchers at Children’s Hospital of Philadelphia (CHOP) have resolved a severe lymphatic disorder in a girl with Noonan Syndrome that had led to upper gastrointestinal bleeding, fluid collection around the lungs, and numerous surgeries that had been unable to resolve her symptoms. By identifying a genetic mutation along a pathway related to lymphatic vessel development and function, the research team was able to target the pathway using an existing drug they had used in a previous case to remodel a patient’s lymphatic system.
A group of vaccine experts led by Children’s Hospital of Philadelphia (CHOP) has published recommendations to ensure equitable distribution of a COVID-19 vaccine when it becomes available. The framework, published today in Heath Affairs, focuses on five principles the authors believe would strengthen the current immunization delivery system to ensure equitable access to everyone for whom vaccination is recommended.
Using sophisticated 3D genomic mapping and integrating with public data resulting from genome-wide association studies (GWAS), researchers at Children’s Hospital of Philadelphia (CHOP) have found significant genetic correlations between inflammatory bowel disease (IBD) and stress and depression. The researchers went on to implicate new genes involved in IBD risk that are enriched in both derived hypothalamic neurons, from a part of the brain that has a vital role in controlling stress and depression, and organoids derived from colon cells, a region more commonly studied in the context of IBD.
Through genetic sequencing and targeted treatment, researchers from Children’s Hospital of Philadelphia (CHOP) have resolved a severe lymphatic disorder in a young woman with kaposiform lymphangiomatosis (KLA), a complex and rare disorder that causes lymphatic vessels around the heart and lung to leak fluid, causing breathing difficulties, infections, and often death. The treatment, which the research team has used successfully in other patients with lymphatic disorders, led to a complete resolution of the patient’s symptoms and fully remodeled her lymphatic system within a matter of months.
Researchers at Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania have identified a cellular pathway that can be targeted with a naturally occurring drug to stimulate lung tissue regeneration, which is necessary for recovery from multiple lung injuries. The findings, which were published today in Nature Cell Biology, could lead to better therapies for patients with lung disease, including acute respiratory distress syndrome (ARDS) due to COVID-19.
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