TAG: "Pediatrics"

Napa quake survivor thankful to UC Davis Children’s Hospital


Injured 13-year-old in good condition.

Nicholas Dillon received a visit from Sacramento Republic FC soccer club Forward Max Alvarez, himself a native of Napa.

Nicholas Dillon, the brave 13-year-old who survived after a chimney collapsed on him in his home during the Napa Valley earthquake last Sunday, is in good condition in UC Davis Children’s Hospital. Dillon’s recovery has garnered national and international media attention. He was interviewed from his hospital room in the Pediatric Intensive Care Unit yesterday by NBC News, among other media outlets.

Dillon also received a visit from Sac Republic FC soccer club forward Max Alvarez, himself a native of Napa.

“I want to thank all of the people who helped me,” Dillon said. “I’m grateful to the paramedics who brought me to Queen of the Valley (Medical Center) and to UC Davis, all of the staff at UC Davis, my family and friends. I can’t describe how thankful I am. I was in tears last night a little bit looking at the news.”

Dillon is expected to make a full recovery.

“I’m going to be fine. It’s going to be a long recovery, but I’m going to be okay,” he said.

The determined young man had an inspiring message for everyone affected by the earthquake.

“I just want everyone to know that we all have setbacks, but we will get through this as a community.”

Dillon’s family has established a fund to accept donations to support his recovery at the Bank of America: Nicholas M. Dillon Savings Account: 1641-0344-2511.

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Tackling rare diseases


UC Irvine researchers’ search for genetic clues is giving new hope to families.

“In our lab, we don’t give up,” says Virginia Kimonis, a UC Irvince specialist in rare genetic diseases. “If people are reaching out, you have to do all you can about rare diseases.” (Photo by Steve Zylius, UC Irvine)

By the time families meet with Dr. Virginia Kimonis, hope is about all they have left.

Her pediatric patients are afflicted with debilitating diseases caused by mutations in an alphabet soup of genes – VCP and NUBPL among them. Prader-Willi, Rett, Paget’s and the like are difficult to diagnose and even harder to treat. But with cutting-edge genomic sequencing and old-fashioned scientific sleuthing, physician-researchers such as Kimonis are on the vanguard of modern medicine, finding therapies where none seemed possible.

Kimonis specializes in one of the most challenging areas: rare genetic diseases. What she and others in her field are learning about disorders that impact only a few is paving the way to a greater understanding of diseases that impact millions.

“It’s wonderful to show in the lab and in the clinic that we can offer these patients some hope,” says Kimonis, a UC Irvine pediatrician and clinical geneticist.

A rare disease is defined as one diagnosed in no more than 200,000 people worldwide; 70 percent, though, affect fewer than 6,000. And of the nearly 7,000 known rare diseases, half involve children, and 80 percent are linked to genetic flaws. These are Kimonis’ focus.

According to UC Irvine’s Dr. J. Jay Gargus, an expert in genetic metabolic diseases, rare disease research can be a springboard to understanding and treating more common ailments.

“We have a special opportunity with rare genetic diseases to provide an insight into how common diseases arise,” says Gargus, who directs the campus’s Center for Autism Research & Translation. “This is an important venue for drug discovery. The National Institutes of Health and the Food & Drug Administration recognize this and have programs established for target diseases. UC Irvine has a great strength in diagnostics, and we should be very involved in this.”

Gargus himself is making a breakthrough on a rare genetic disease. He recently held the first U.S. clinical trial of a treatment for Wolman disease, a cholesterol storage disorder, at UC Irvine Medical Center – with promising results.

Kimonis is also helping the campus establish itself as a leader in the field. She manages a section of the NIH’s Rare Diseases Clinical Research Network dedicated to Prader-Willi, Rett and Angelman syndromes.

Children with Prader-Willi – which is caused by the loss of several genes on chromosome 15 – are characterized by obesity, low muscle tone and cognitive disabilities. In addition to treating Prader-Willi patients with novel approaches, Kimonis is building a national database of those with the disease and designing studies to identify promising therapies.

In one project, she plans to partner with Daniele Piomelli – UC Irvine’s Louise Turner Arnold Chair in the Neurosciences, who examines the endocannabinoid system – to see how marijuana-like chemicals called OEAs created in the body can help curb the insatiable appetites of Prader-Willi children. By creating mice models with Prader-Willi gene mutations, the two hope to learn if the hunger-curbing signal provided by OEA is missing and whether compounds that boost OEA can aid satiety.

“If successful, our experiments will achieve two important objectives,” Piomelli says. “First, they will help us understand why Prader-Willi causes hunger; second, and more importantly, they will suggest new possible therapies to reduce appetite.”

Another focus of Kimonis’ work centers on disorders triggered by mutations in the valosin-containing protein gene. VCP programs enzymes that help maintain cell health by breaking down and clearing away old and damaged proteins that are no longer necessary. Mutations in the VCP gene have been discovered in people who have a muscle-weakening disease called inclusion body myopathy, early-onset Paget’s disease of the bone or frontotemporal dementia.

Kimonis was the first scientist to map and identify mutations in the VCP gene in inclusion body myopathy, and in 2012, she developed the first genetically modified mouse model that exhibits many of the clinical features of diseases largely caused by VCP gene mutations.

“Mouse models like these are important because they let researchers study how these now-incurable, degenerative disorders progress in vivo and will provide a platform for translational studies that could lead to lifesaving treatments,” says Kimonis, who co-directs UC Irvine’s MitoMed laboratory, which offers testing for many rare diseases.

Her research breakthroughs are coinciding with greater public recognition of rare genetic diseases. The NIH has established an Office of Rare Diseases Research, and nonprofit groups such as the Orange County-based Global Genes Project are increasing awareness, advocating and soliciting philanthropic aid on behalf of this issue. (The GGP is hosting a patient advocacy summit Sept. 11 and 12 in Huntington Beach.)

Parents of children with rare genetic diseases are also speaking out. Cristy and Rick Spooner of Rancho Santa Margarita, who’ve endured a long quest to identify a disabling condition affecting two of their three daughters, have gone public with their story, hoping to raise the profile of such diseases.

After the Spooners spent years seeking help from doctors, Kimonis contacted them about a new technique, called exome sequencing, that examines the tens of thousands of genes in the human body for disease-causing mutations. Aliso Viejo-based Ambry Genetics, which partners with Kimonis’ research group, provided the sequencing services.

Test results showed that Cali and Ryann Spooner harbored mutations in the NUBPL gene. This defect prevents their mitochondria – the power generators in cells – from efficiently producing energy. Armed with this information, Kimonis developed dietary and drug treatments for the Spooner sisters.

“What’s even more satisfying about our work is that it has huge implications for other diseases,” she says.

Kimonis is seeking funding to determine whether mitochondrial defects caused by mutated NUBPL genes underlie the onset of Parkinson’s disease. She hopes to partner with UC Irvine neurologist Dr. Neal Hermanowicz, who manages the movement disorders program, to establish a clinical research network for this effort.

“In our lab, we don’t give up,” Kimonis says. “If people are reaching out, you have to do all you can about rare diseases.”

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UC Davis researchers launch study examining autism in girls


Little is known about biological differences between boys and girls with autism.

Little is known about autism in girls.

Autism is far more common in boys than girls – affecting 1 in 54 boys and 1 in 252 girls — but little is known about biological differences between boys and girls with autism. A new study, called the ‘Girls with Autism — Imaging of Neurodevelopment’ or GAIN Study, led by researchers at the UC Davis MIND Institute will explore those differences in very young girls with autism.

“We know that the incidence of autism is much lower in girls than it is in boys. But we don’t know much about why that is, and what those differences are,” said Christine Wu Nordahl, assistant professor of psychiatry and behavioral sciences and principal investigator for the study. “Because autism so much more common in boys, girls are often understudied, and we haven’t had the chance to evaluate them in depth.”

To investigate the differences between autism in boys and autism in girls, MIND Institute researchers are seeking very young girls with autism — between the ages of 2 and 3.5 years old — who are recently diagnosed with autism. The researchers also are enrolling girls in the same age range who are developing typically.

Study participants will be followed for two years and will receive magnetic resonance imaging (MRI) scans and other tests, to help researchers identify differences in brain structure and connectivity between boys and girls with autism.

“A comprehensive understanding of the female phenotype of autism spectrum disorder is a pressing and timely topic, as indicated by national efforts to direct research towards this goal,” Wu Nordahl said.

For further information about the research or to inquire about enrolling a child in the study, please contact Michelle Huynh, study coordinator, at (916) 703-0410, or michelle.huynh@ucdmc.ucdavis.edu.

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Breastfeeding may delay onset of puberty in girls


Girls with early-onset puberty at risk for multitude of health challenges.

Julianna Deardorff, UC Berkeley

In a recent study, maternal and child health researchers at the UC Berkeley School of Public Health looked into the idea that breast feeding may serve as a protective mechanism to delay onset of puberty in girls. They found that, in some cohorts, girls who were predominantly breastfed (as opposed to predominantly formula fed) showed later onset of breast development.

Girls with early-onset puberty are at risk for a multitude of health challenges, including greater risks of obesity, hypertension and some cancers. Early maturation is also associated with lower self-esteem, higher rates of depression and norm-breaking behaviors, and lower academic achievement.

“These findings are unique in suggesting that exclusive breastfeeding may delay onset of girls’ pubertal timing,” says Julianna Deardorff, assistant professor of maternal and child health and co-author of the study. “Given the limited number of modifiable factors influencing puberty, this is a promising area of research for intervention.”

The study was led by Aarti Kale, M.P.H. ’11, who analyzed data from a population of 1,237 girls recruited across three geographic locations — New York City, Cincinnati and the San Francisco Bay Area. Breast feeding practices were assessed using self-administered questionnaires with the primary caregiver. The girls were seen on an annual basis to assess breast and pubic hair development. In addition to breastfeeding correlating with pubertal onset, duration of breastfeeding was also directly associated with age at onset of breast development. However, a stratified analysis showed the association only in the Cincinnati cohort.

“The results varied across the sites, suggesting that unique characteristics of these cohorts and their environments modify effects,” says Deardorff. “Further research into the contexts within which breastfeeding and girls’ development occur would potentially illuminate sources of variability.”

The study was published in the Journal of Maternal and Child Health.

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Colds may temporarily increase stroke risk in kids


Study shows colds, flu can create short-lived increased stroke risk in vulnerable children.

A new study suggests that colds and other minor infections may temporarily increase stroke risk in children. The study found that the risk of stroke was increased only within a three-day period between a child’s visit to the doctor for signs of infection and having the stroke.

The study was led by researchers at UCSF Benioff Children’s Hospital San Francisco in collaboration with the Kaiser Permanente Division of Research.

“These findings suggest that infection has a powerful but short-lived effect on stroke risk,” said senior author Heather Fullerton, M.D., a pediatric vascular neurologist and medical director of the Pediatric Brain Center at UCSF Benioff Children’s Hospital San Francisco.

“We’ve seen this increase in stroke risk from infection in adults, but until now, an association has not been studied in children.”

Strokes are extremely rare in children, affecting just 5 out of 100,000 kids per year. “The infections are acting as a trigger in children who are likely predisposed to stroke,” said Fullerton. “Infection prevention is key for kids who are at risk for stroke, and we should make sure those kids are getting vaccinated against whatever infections – such as flu – that they can.”

The study appears in today’s (Aug. 20) online issue of Neurology.

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SCID more common in infants than previously believed


UCSF-led study is first to evaluate success of infant screening program for immune disorder.

Severe combined immunodeficiency (SCID), a potentially life-threatening, but treatable, disorder affecting infants, is twice as common as previously believed, according to a new study that is the first to examine the national impact of this newborn screening test.

The study is the first combined analysis of more than 3 million infants screened for SCID in 10 states and the Navajo Nation. Infants from participating programs born from the start of the first pilot program in January 2008 through July 2013 were included.

In May, 2010, SCID was the 29th condition added to the national recommended uniform panel for newborn screened disorders, and California began screening newborns statewide on Aug. 15, 2010, just four years ago. Currently, 23 states conduct newborn screening for SCID, and the test is performed for nearly two-thirds of infants born across the country.

“Now that infants with SCID are being detected at a very young age, we can tailor protection and early treatment for them while they are still healthy, without having to also treat the complications from infections that result from the disease. This leads to the best outcomes in terms of survival and immune reconstitution,” said senior author Jennifer Puck, M.D., a pediatric immunologist at UCSF Benioff Children’s Hospital San Francisco, who developed the dried blood spot test to screen newborns for SCID.

The study appears in today’s (Aug. 19) issue of JAMA.

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Parental incarceration linked to health issues in children


UC Irvine study finds it can be more detrimental than divorce or death of mother, father.

Kristin Turney, UC Irvine

The U.S. has the highest incarceration rate in the world, with more than 2 million people currently behind bars. How this affects their families is the subject of a new UC Irvine study, which found significant health and behavioral problems in children of incarcerated parents. The most striking finding is that in some cases parental incarceration can be more detrimental to a child’s well-being than divorce or the death of a parent.

“We know that poor people and racial minorities are incarcerated at higher rates than the rest of the population, and incarceration further hinders the health and development of children who are already experiencing significant challenges,” said study author Kristin Turney, assistant professor of sociology at UC Irvine.

When comparing children with similar demographic, socioeconomic and familial characteristics, the study found that having a parent in jail was linked to a greater incidence of asthma, obesity, attention deficit disorder/attention deficit hyperactivity disorder, depression and anxiety.

“Our results suggest that children’s health disadvantages are an overlooked and unintended consequence of mass incarceration,” Turney said. “Incarceration, given its unequal distribution across the population, may have implications for racial and social class inequalities in children’s health.”

The study appears in the September edition of the Journal of Health & Social Behavior, a publication of the American Sociological Association.

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Federal grant awarded to treat psychosis in traumatized youth


UC Davis receives $570K grant.

Anthony Urquiza, UC Davis

The UC Davis CAARE Center and UC Davis Psychiatry’s SacEDAPT Clinic have received funding to improve the assessment and treatment of underserved traumatized youth who are experiencing the early signs of psychosis.

The $570,000 grant comes from the Graduate Psychology Education Program: Workforce Training to Improve Access to Mental Health Services, a program of the U.S. Department of Health and Human Services’ Health Resources and Services Administration (HRSA).

The funding will be used to train predoctoral psychology interns in a family-based intervention known as Trauma-Focused Cognitive Behavioral Therapy (TF-CBT) and recovery-based treatment approaches used at the SacEDAPT Clinic. The training will be integrated into the internship that currently is offered at the CAARE Center.

Pediatric medical residents will also receive specialized training to identify trauma and early psychosis. Improving patient care through collaboration between primary care and behavioral health professionals will be a key focus of the grant.

The project director will be Anthony Urquiza, director of the UC Davis CAARE Center, and will be supported by Dawn Blacker, UC Davis CAARE Center; Albina Gogo, UC Davis Department of Pediatrics; and Cameron Carter and Tara Niendam, UC Davis Department of Psychiatry.

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Telethon raises $184K for UC Davis Children’s Hospital


News10 airs Children’s Miracle Network Hospitals fundraiser.

Cristina Mendonsa was one of the News10 anchors that came to UC Davis Children's Hospital as part of the telethon.

After a 19-hour Children’s Miracle Network HospitalsTelethon on News10 KXTV, the final tallies were in.

Telethon viewers and partners raised $184,130 for UC Davis Children’s Hospital, the local Children’s Miracle Network Hospital in Sacramento.

The modified telethon was the first of its kind for Children’s Miracle Network Hospitals and for News10. For the entire day during regular programming, News10 featured unique, local stories of Sacramento area children who had been treated at UC Davis Children’s Hospital.

Here are a few video stories that were covered:

Viewers called in their donations to the toll-free number, 877-719-KIDS (5437) and News10 also promoted the telethon to its more than 200,000 social media followers on Facebook and Twitter using the hashtag #Give4Kids.

Like all Children’s Miracle Network Hospitals fundraisers, funds raised stay local, meaning all funds donated to the telethon will be given to UC Davis Children’s Hospital and stay in the Sacramento community.

“Friday was a day for miracles. The commitment of the News10/Gannett organization to help share our story with the Sacramento region was incredible. It was wonderful to see the Sacramento community come together to make a difference for the children here at UC Davis Children’s Hospital,” said Jacquelyn Kay-Mills, director of UC Davis Children’s Miracle Network.

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Mapping the infant brain


Findings may be key in identifying, treating earliest signs of neurodevelopmental disorders.

A recent study conducted by researchers at the UC San Diego School of Medicine and the University of Hawaii demonstrates a new approach to measuring early brain development of infants, resulting in more accurate whole brain growth charts and providing the first estimates for growth trajectories of subcortical areas during the first three months after birth. Assessing the size, asymmetry and rate of growth of different brain regions could be key in detecting and treating the earliest signs of neurodevelopmental disorders, such as autism or perinatal brain injury.

The study will be published in JAMA Neurology today (Aug. 11).

For the first time, researchers used magnetic resonance imaging (MRI) of the newborn brain to calculate the volume of multiple brain regions and to map out regional growth trajectories during the infant’s first 90 days of life. The study followed the brain growth of full term and premature babies with no neurological or major health issues.

“A better understanding of when and how neurodevelopmental disorders arise in the postnatal period may help assist in therapeutic development, while being able to quantify related changes in structure size would likely facilitate monitoring response to therapeutic intervention. Early intervention during a period of high neuroplasticity could mitigate the severity of the disorders in later years,” said Dominic Holland, Ph.D., first author of the study and researcher in the Department of Neurosciences at UC San Diego School of Medicine.

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Study finds health claims misleading for sports, energy drinks


‘Health halo’ around popular drinks obscures risks to children.

A new report by UC Berkeley researchers questions the health claims of popular energy, sports, tea and fruit drinks on the market.

In a report released today (Aug. 6), the authors evaluated 21 popular drinks with health claims — from immune boosters to energy enhancers — on their labels and in their marketing materials.

“We often see labels on energy and sports drinks that tout health benefits, but the sugar levels in these products rival that of sodas,” said lead author Patricia Crawford, director of the Atkins Center for Weight and Health and UC Berkeley adjunct professor of nutritional sciences and toxicology. “They are essentially sodas without the carbonation, but they give the misleading impression that they are healthy.”

The report, “Looking Beyond the Marketing Claims of New Beverages,” was commissioned by the California Center for Public Health Advocacy. Click here to access the full report, fact sheets and press release.

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3 of 4 California children with mental health needs don’t get treatment


Barriers to care persist, even though 95 percent have health insurance.

More than 300,000 California children between the ages 4 and 11 need mental health care, but only one in four is treated, according to a new policy brief from the UCLA Center for Health Policy Research — this, despite the Centers for Disease Control and Prevention recommending early-childhood intervention as a critical step in reducing the severity of mental health problems in adulthood.

“Without early assessment, you miss warning signs, as well as opportunities to intervene,” said D. Imelda Padilla-Frausto, a researcher at the center and lead author of the study. “Waiting can lead to more serious problems later.”

While about 8.5 percent of all California children in the 4-to-11 age group are identified as having mental health care issues — including conduct problems, emotional symptoms, hyperactivity and problems with peers — parents reported that 70.8 percent of these children went without emotional or psychological counseling over the previous year, according to the study, which used California Health Interview Survey (CHIS) data from 2007–09.

The study looked at a number of factors that contribute to mental health needs among children and obstacles that may contribute to a lack of treatment.

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