Using whole exome sequencing, CHOP researchers discovered the genetic mutation responsible for a condition that prevents patients from making B cells and antibodies to fight infections. The study describing the condition, which CHOP researchers named PU.1 Mutated agammaglobulinemia (PU.MA), was published today in the Journal of Experimental Medicine.
In a multi-institutional study, researchers in the Developmental-Behavioral Pediatrics Research Network (DBPNet), led by Children’s Hospital of Philadelphia (CHOP), have conducted the first and largest analysis to date comparing the effectiveness and side effects of stimulants like methylphenidate (Ritalin) and alpha-adrenergic agonists like guanfacine (Tenex) in preschool-age children. The researchers found that both classes of drugs have benefits, with differing side effects, suggesting that decisions on which class of drugs to prescribe should be made based on individual patient factors. The retrospective study was published today in JAMA.
Researchers found that difficulties in diagnosing toddlers with autism spectrum disorder (ASD) might be due to the dynamic nature of the disorder during child development. Children with clinical characteristics that put them on the diagnostic border of autism have an increased susceptibility to gaining or losing that diagnosis at later ages.
A new study identified clear strengths and a series of specific challenges autistic adolescents experience while learning to drive.
Researchers at Children’s Hospital of Philadelphia (CHOP) have identified a key target that may be responsible for treatment failure in about 30% of patients with hemophilia A. The target, known as B cell activating factor (BAFF), appears to promote antibodies against and inhibitors of the missing blood clotting factor that is given to these patients to control their bleeding episodes. The findings, published in the Journal of Clinical Investigation, raise the possibility of using anti-BAFF therapies, potentially in combination with immune tolerance therapies, to tame the immune response in some patients with severe hemophilia A.
Early and accurate diagnosis leads to optimal recovery from concussion. Over the past year across a series of studies, the Minds Matter Concussion Program research team at Children’s Hospital of Philadelphia (CHOP) has systematically evaluated the use of the visio-vestibular examination (VVE) and its ability to enhance concussion diagnosis and management.
Researchers have discovered that a widely used nutritional supplement may significantly reduce the risk of fatal strokes caused by a rare genetic disorder. Additionally, the findings suggest that the supplement could be used to both block precipitation of and break up the formation of amyloid plaque deposits, a common feature found in serious forms of dementia.
A new study used head impact sensors in four different sports and studied male and female athletes to determine which of these sports put students at the highest risk for head impacts that could lead to concussions.
Researchers have compiled a complete genetic and clinical analysis of more than 400 individuals with SCN2A-related disorder, which has been linked to a variety of neurodevelopmental disorders, including epilepsy and autism. By linking clinical features to genetic abnormalities in a standardized format, the researchers hope their findings lead to improved identification and clinical intervention.
The Pennsylvania Pediatric Medical Device Consortium (PPDC) has announced its latest round of seed grants to companies developing medical devices for children. The Consortium chose five projects from nine finalists in a competition to receive seed grants of $50,000 each.
Researchers have determined what happens at a cellular level as the lung alveolus forms and allows newborns to breathe air. Understanding this process gives researchers a better sense of how to develop therapies and potentially regenerate this critical tissue in the event of injury.
Researchers at Children’s Hospital of Philadelphia (CHOP) have identified genes responsible for hematopoietic stem cell (HSC) regeneration via the assembly of the ribosome, the protein factories in cells that translate mRNA sequences into amino acid sequences. The findings, which were published in Cell Stem Cell, highlight the importance of proper ribosome assembly in stem cell regeneration and identify possible targets for future therapies for ribosomopathies, childhood disorders that lead to bone marrow failure (BMF).
Combining computational mining of big data with experimental testing in the lab, researchers at Children’s Hospital of Philadelphia (CHOP) have identified RNA editing events that influence gene expression and, in turn, the phenotypic manifestation of that expression. In analyzing so-called A-to-I RNA editing, in which the adenosine of an RNA molecule is chemically modified into an inosine, the researchers describe how a single nucleotide change by RNA editing can have large downstream effects. The findings were published today in Genome Biology.
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.
Building upon years of research, a new study has demonstrated how a specific assessment of the eye could someday help properly diagnosis and monitor concussions.
Researchers have shown there may be key genetic differences in the causes of attention-deficit hyperactivity disorder (ADHD) between African Americans and people of European ancestry, which may play an important part in how patients of different ethnic backgrounds respond to treatments for this condition.
Using sensitive parameters to assess cardiac function, researchers at Children’s Hospital of Philadelphia (CHOP) have found that cardiac involvement in multisystem inflammatory syndrome in children (MIS-C) differs from Kawasaki disease (KD) and is associated with myocardial injury. The findings were published recently in the Journal of the American College of Cardiology.
Early findings from researchers at Children’s Hospital of Philadelphia (CHOP) show that convalescent plasma appears to be a safe and possibly effective treatment for children with life-threatening cases of COVID-19. The results were published online Friday by the journal Pediatric Blood and Cancer.
New findings show that some patients with a rare and aggressive form of leukodystrophy may benefit from receiving treatment with a class of targeted therapy drugs that could improve their neurological function.
A new study found that teen drivers and drivers 65 years and older – two age groups at a higher risk of being involved in an automobile accident – are more likely to be driving vehicles that are less safe, putting them at even higher risk of injury. The findings underscore the need for these groups to prioritize driving the safest vehicle they can afford.
A team of researchers have combined clinical information with large-scale genomic data to successfully link characteristic presentations of childhood epilepsies with specific genetic variants.
In a breakthrough study, researchers at Children’s Hospital of Philadelphia (CHOP) have shown that an enhanced treatment developed in their lab leads to long-term remissions in 80% to 100% of mice with drug-resistant or high-risk solid tumors. The research, which could soon lead to clinical trials, is described in Cancer Research, a journal of the American Association for Cancer Research.
When it comes to worrying about the COVID-19 pandemic, a new study demonstrates that people are more concerned about whether their family members could contract the virus or if they are unknowingly spreading the virus themselves than they are with contracting it. The study, conducted by researchers from the Lifespan Brain Institute (LiBI) of Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania, also shows how increased resilience is able to reduce rates of anxiety and depression during the pandemic.
Philadelphia and its surrounding counties issued a series of “stay-at-home” orders on March 17, 2020 in an effort to curb the spread of COVID-19. In the months that followed, Children’s Hospital of Philadelphia (CHOP) saw a marked decrease in healthcare visits for both outpatient and hospitalized asthma patients. New research from CHOP and the Hospital of the University of Pennsylvania suggests the cause may have been fewer rhinovirus infections due to masking, social distancing, and hygiene measures.
A team of researchers further bridged the gap between genomic information and clinical outcome data by systematically linking genetic information with electronic medical records, focusing on how genetic neurological disorders in children develop over time.
A team of researchers have developed an algorithm through machine learning that helps predict sites of DNA methylation – a process that can change the activity of DNA without changing its overall structure – and could identify disease-causing mechanisms that would otherwise be missed by conventional screening methods.
As school districts look ahead to a very different school year, pediatric infectious disease experts from across the United States convened to outline back-to-school safety guidelines for solid organ transplant (SOT) recipients. The group, led by Kevin J. Downes, MD, attending physician in the Division of Pediatric Infectious Diseases at Children’s Hospital of Philadelphia (CHOP), published their recommendations today in the Journal of the Pediatric Infectious Diseases Society.
Whether children have ongoing sleep problems from birth through childhood or do not develop sleep problems until they begin school, a new study by researchers at Children’s Hospital of Philadelphia (CHOP) has found that sleep disturbances at any age are associated with diminished well-being by the time the children are 10 or 11 years old. The findings, which were published in The Journal of Child Psychology and Psychiatry, suggest health care providers should screen children for sleep problems at every age and intervene early when a sleep problem is identified.
In a new study published in Diabetes Care, researchers at Children’s Hospital of Philadelphia (CHOP) have found that youth who are involved with the decision to start CGM are more likely to continue using the monitoring technology more than two months after starting. The findings suggest that children and adolescents who do not have a role in the decision are less likely to be satisfied with the device and use the device consistently.
Researchers from Children’s Hospital of Philadelphia (CHOP) report important data that differentiate MIS-C from severe COVID-19 in children and suggest that MIS-C is a post-infectious syndrome related to COVID-19 but distinct from KD. The findings were published today in The Journal of Clinical Investigation.
As hospitals resume elective procedures, including pediatric spine surgeries, surgeons from Children’s Hospital of Philadelphia (CHOP) have outlined a framework for prioritizing pediatric spine surgeries amid the pandemic. The recommendations were published recently in The Journal of Bone and Joint Surgery.
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