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Secrets Revealed About How Disease-Causing DNA Mutations Occur
A team of Penn State scientists has shed light on the processes that lead to certain human DNA mutations that are implicated in hundreds of inherited diseases such as tuberous sclerosis and neurofibromatosis type 1. The results one day could influence the way couples who seek to have children receive genetic counseling. The team, led by Kateryna Makova, an associate professor of biology, also includes Erika Kvikstad, a graduate student in the Department of Biology, and Francesca Chiaromonte, an associate professor of statistics. Their findings will be published in the July 2009 issue of the journal Genome Research.

Enzyme Doesn't Act Alone In Atrial Fibrillation
An overactive enzyme is behind a leaky calcium channel that plays a role in the development of atrial fibrillation, which is the most common cardiac arrhythmia that is responsible for a third of all strokes. However, it doesn"t act alone, say researchers at Baylor College of Medicine. The findings can be found online in the current edition of the Journal of Clinical Investigation.
News of the day
Medtronic Annual Meeting Date Scheduled For August 27, 2009
The board of directors of Medtronic, Inc. (NYSE: MDT), announced that the company"s annual meeting of shareholders will be held at 10:30 a.m., Central Daylight Time, on Thursday, August 27, 2009 at Medtronic World Headquarters, located at 710 Medtronic Parkway, Minneapolis, Minnesota. Shareholders of record at the close of business on June 29, 2009, will be eligible to vote at the meeting.
Oncology

In Pediatric Patients Sleep Disorders Are Largely Underdiagnosed

Primary care pediatricians may be under-diagnosing sleep disorders in children and teens, according to a research abstract presented on June 8 at SLEEP 2009, the 23rd Annual Meeting of the Associated Professional Sleep Societies. The study obtained data from 32 primary care pediatric practices affiliated with Children"s Hospital of Philadelphia. Information was gathered by chart review for 154,957 patients, ranging in age from 0 to 18 years. Results show that less than four percent (5750 children) were diagnosed with a sleep disorder. The most common diagnoses were sleep disorders that are "not otherwise specified" (1.42 percent), enuresis - or bedwetting (1.24 percent), sleep disordered breathing (1.04 percent), and insomnia (0.05 percent). According to lead author Lisa Meltzer, PhD, the rate of diagnosis found in this study is significantly lower than prevalence rates reported in epidemiological studies. "Sleep is often discussed during check-ups for young children, but it may not come up as a topic with teenagers, resulting in an under diagnosis of sleep disorders for this group of adolescents," said Meltzer. "Pediatricians should ask about sleep during every well-child visit. Children who snore, have problems falling asleep, are difficult to wake in the morning, or who fall asleep in school should be further evaluated for sleep disorders." Because sleep problems in children can have a major impact on learning, growth and development, the authors advise that it is important for pediatricians to receive education and support in the diagnosis and treatment of sleep disorders. According to the American Academy of Sleep Medicine (AASM), some signs that your child may have a sleep problem include: * You spend too much time "helping" your child fall asleep * Your child wakes up repeatedly during the night. * Your child snores very loudly or struggles to breathe during sleep. * Your child"s behavior, mood or school performance changes. * Your child who used to stay dry at night begins to wet the bed. Parents who notice an ongoing sleep problem in their child should talk to their child"s doctor or contact an AASM-accredited sleep disorders center. Abstract Title: Prevalence of Sleep Disorders in Pediatric Primary Care Practice Presentation Date: Monday, June 8 Category: Pediatrics Abstract ID: 0197 Kelly Wagner American Academy of Sleep Medicine


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