The Power to Tell Your Story

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A report in the July report of Nature Genetics offers new hope for families affected with the genetic disorder Alagille syndrome. Nancy Spinner, Ph.D., and a team of geneticists at The Children's Hospital of Philadelphia have demonstrated that mutations in a gene dubbed "Jagged 1" are responsible for the developmental disorder, which affects structures in the liver, heart, skeleton, eye, face, kidney and other organs.

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Most of us don't look at groups of 10-year-olds and envision them as bone-weary senior citizens, but that's the kind of long-range thinking behind a nutrition intervention program at The Children's Hospital of Philadelphia.

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The Nutrition Center of The Children's Hospital of Philadelphia has received a $500,000 Bristol-Myers Squibb Unrestricted Nutrition Research Grant to support clinical and basic research in human nutrition for both healthy and chronically ill children.

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Performing neurosurgery on fetuses months before birth, Children's Hospital physicians relieve a potentially devastating condition found in the birth defect spina bifida. MRI scans showed that hindbrain herniation, a cause of hydrocephalus, was dramatically improved.

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The Children's Hospital of Philadelphia has developed the region's largest and most comprehensive center for diagnosing and treating ADHD.

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Researchers at The Children's Hospital of Philadelphia played a major role in today's landmark announcement of the first sequencing of a complete human chromosome -- chromosome 22.

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According to a study by doctors at The Children's Hospital of Philadelphia, post-traumatic stress disorder (PTSD) is a common, but overlooked, result of childhood traffic injury in both children and their parents.

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A study headed by a physician at The Children's Hospital of Philadelphia shows that a novel combination of drugs achieves strong, sustained results in controlling HIV infection in children.

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A small percentage of patients who receive lung transplantation develop a deadly increase in blood ammonia levels, according to a study by University of Pennsylvania Medical Center and The Children's Hospital of Philadelphia researchers (The Annals of Internal Medicine, 2-15-00).

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Inserting a beneficial gene into blood immune cells taken from patients infected with HIV blocked the virus from replicating in those cells, reports a Children's Hospital of Philadelphia research group (Gene Therapy, 2-00).

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An oral medication, deferiprone, that may be helpful for patients with thalassemia and related blood disorders has fewer adverse effects on white blood cells than previously predicted (British Journal of Haematology, 2-00).

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Chromosome 22 yielded a few more secrets to The Children's Hospital of Philadelphia genetics researchers who analyzed details of the chromosome's structure and found evidence that sites with repetitive DNA sequences are prone to rearrangements that delete important genes (Human Molecular Genetics, 3-00).

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Encouraging early results for a novel gene therapy designed to improve the clinical course of the bleeding disorder hemophilia B. was reported by The Children's Hospital of Philadelphia and Stanford University Medical Center researchers (Nature Genetics, 3-00).

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Computer crash simulation software can predict the likelihood and severity of injuries to children from airbag activation; even children with restraints are at substantial risk from airbags while sitting in the front seat (Archives of Pediatrics and Adolescent Medicine, 3-15-00).

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Adolescents infected with the virus that causes AIDS have a surprisingly robust immune response and may benefit from aggressive early treatment with anti-HIV medications, say researchers led by an immunologist at The Children's Hospital of Philadelphia (Archives of Pediatric and Adolescent Medicine, 4-00).

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The acute insulin response diagnostic test, performed in newborns, allows physicians to identify a rare, severe imbalance of insulin levels that can be cured with organ-sparing surgery.

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Genetics researchers are teasing out details of how chromosome 22's unstable chemical structure renders it vulnerable to breaks and rearrangements, resulting in genetic disease (Human Molecular Genetics, 7-00).

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Patients have a significantly lower death rate after surgery when their anesthesia is directed by an anesthesiologist, according to a study of 217,000 Medicare patients in Pennsylvania (Anesthesiology, 7-00).

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Recommendations for collecting forensic evidence of sexual abuse in young children should be adapted to relect actual patterns of abuse in children, according to experts at The Children's Hospital of Philadelphia. (Pediatrics, 7-00).

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To better understand disease, first understand normal, healthy conditions. That's the rationale for the first comprehensive MRI study of normal brain development in children.

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Steven D. Douglas, director of the Section of Immunology at The Children's Hospital of Philadelphia, received the Erwin Neter Award of the Association of Medical Laboratory Immunologists; this national award recognizes major lifetime accomplishments.

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A self-adhesive device called StatLock may be preferable to using sterile tape or sutures to secure intravenous catheters that deliver fluids and medications to patients.

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The newly launched Vaccine Education Center provides a comprehensive Web site for parents and healthcare professionsals regarding the often complex issues surrounding vaccines and vaccine safety.

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Adult human stem cells taken from bone marrow have been induced to develop into a wide range of normal tissues after transplantation into fetal sheep. The research offers promise for future fetal treatment of muscular dystrophy and other diseases. (Nature Medicine, 11-00)

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Injured children who receive care at trauma centers certified to treat children have better survival rates than children treated at adult trauma centers, according to a recent study. The better outcomes may occur because care is specifically tailored to children. (Journal of Trauma, 8-00)

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Survival rates have been steadily improving for children who undergo surgery as infants for a life-threatening congenital condition called hypoplastic left heart syndrome. Researchers reported on 15 years of experience with the reconstructive, multistage surgery. (Circulation, 11-00)

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Heart disease patients may someday receive a dose of gene therapy that would protect injured coronary arteries from further damage and possibly even treat the underlying heart disease. (Nature Biotechnology, 11-00)

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The diet drug combination fen-phen was removed from the market in 1997 because of its association with heart valve abnormalities. New research reveals cellular events, apparently triggered by the neurotransmitter serotonin, that may explain the disease mechanisms.

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As the "working draft" of the human genome is officially published, scientists are unveiling powerful tools to make the data more useful to medical researchers. One tool uses large DNA segments to connect sequence data to cytogenetic landmarks--band patterns on chromosomes. (Nature, 2-15-01)

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A new blood test for Lyme disease may provide a more accurate method than current tests for detecting the tick-borne illness, particularly in its early stages. (Journal of Immunological Methods, 3-01)

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In a change in practice at a large pediatric hospital system, parents are now routinely asked if they wish to accompany their children on an ambulance trip between two hospitals. The change reflects recent studies of parent experiences. (Pediatric Emergency Care, 12-00 and 2-01)

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A compound that inhibits HIV replication in human immune system cells may eventually provide a new therapeutic approach against AIDS by blocking HIV infection at an early stage. (PNAS, 3-27-01)

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As the pool of survivors of childhood cancer grows, research focuses on the late effects of cancer treatments. Years later, patients may have problems with fertility, growth, heart function or post-traumatic stress.

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Limb-sparing procedures are a growing option for children with bone tumors of the arms or legs, thanks to MRI technology, improved chemotherapy and other advances at The Children's Hospital of Philadelphia. Most children are now cured, without amputation.

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Aggressive treatment may be necessary to avoid long-term neurological injury in a small fraction of jaundiced infants, say researchers from The Children's Hospital of Philadelphia.

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Researchers at The Children's Hospital of Philadelphia have shown that genetic factors are more important than age or disease stage in assessing a child's risk from neuroblastoma, a solid tumor of the peripheral nervous system.

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Methadone, which is widely used in drug treatment centers to treat heroin addicts, stimulates HIV infection of human immune cells studied in cell cultures, according to immunology researchers at The Children's Hospital of Philadelphia.

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The Vaccine Education Center at The Children's Hospital of Philadelphia has developed "Vaccines: Separating Fact from Fear", a first-of-its kind educational video for parents and healthcare professionals.

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Newborns with the heart defect hypoplastic left heart syndrome (HLHS) are less likely to have early neurologic problems if the defect is diagnosed before birth, according to cardiology researchers at The Children's Hospital of Philadelphia.

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A drug used to treat gout in adults also helps protect infants from neurological and cardiac injury after surgery for a high-risk heart defect, say researchers at The Children's Hospital of Philadelphia. Allopurinol benefited infants with hypoplastic left heart syndrome.

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Add treadmill machines to the list of home exercise equipment that can pose dangers to little fingers. Plastic surgeons at The Children's Hospital of Philadelphia reported on 12 children who suffered hand injuries from the belt of a moving treadmill.

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In one of the first nationwide studies of school-based aggression prevention programs, researchers from The Children's Hospital of Philadelphia found that targeting programs to younger children, focusing on aggression in girls as well as boys, and adapting programs to playgrounds and other nonclassroom settings are key elements.

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Rapid rates of weight gain during the first four months of life raise the risk of being overweight by age 7, according to researchers at The Chidren's Hospital of Philadelphia. The effect was found even for a modest increase over the average weight gain during infancy.

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Many children with persistent asthma may not use the most appropriate medication for preventing flare-ups of the disease. Researchers at The Children's Hospital of Philadelphia found urban children with acute asthma often do not follow national guidelines for managing asthma.

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A rapid rise in car booster seat use in recent years may indicate parents are more likely than ever to use those safety seats for older children, say researchers at The Children's Hospital of Philadelphia. However, most child passengers are still not optimally restrained.

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From the moment of birth, infants are capable of responding to numerous challenges to the immune system, including multiple vaccines.

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Rapid rates of weight gain during infancy are associated with obesity later in childhood, say researchers from The Children's Hospital of Philadelphia. Rapid weight gain during the first four months of life was linked to being overweight at age 7, regardless of birth weight.

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Press Advisory: Pediatric hematologist of The Children's Hospital of Philadelphia, will discuss ongoing gene therapy trials for hemophilia and prospects for treating other diseases at the AAAS Annual Meeting, Friday, Feb 15, 8 a.m. in Boston, Mass.

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Researchers are advancing on the goal of treating hemophilia with gene therapy. Dr. Katherine High reviewed the progress of clinical trials at The Children's Hospital of Philadelphia, describing how new technology augurs well for gene therapy's successful development.

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Researchers at The Children's Hospital of Philadelphia completed the first study comparing the level of the spinal defect in spina bifida with the rate of shunting -- the placement of a drainage tube. The study of newborn surgery lays groundwork for a future clinical trial of fetal surgery.