TAG: "Pediatrics"

New diagnostic test helps pinpoint mutations that cause rarest genetic diseases


Analysis scans all genes simultaneously to diagnose mystery conditions.

After doctors were unable to diagnose his mysterious condition, Calvin Lapidus (with his mom, Audrey) became the first person to undergo clinical exome sequencing at UCLA’s Clinical Genomics Center. (Photo by Lapidus family)

Audrey Lapidus adored her baby’s sunny smile and irresistible dimples. But when Calvin was 10 months old, suffering from chronic digestive problems and unable to roll over or crawl, she was worried.

Four neurologists were unable to determine the cause, and a battery of tests proved inconclusive. Desperate for answers, Audrey and her husband, Eric, brought Calvin to UCLA, where they agreed to have him become the first person at UCLA’s David Geffen School of Medicine to undergo a powerful new test called exome sequencing.

The test focuses on exomes, the protein-coding portions of genes that account for only 1 percent of DNA but nearly 85 percent of the glitches known to cause human diseases.

Using DNA collected from Calvin’s and his parents’ blood, a sophisticated sequencing machine rapidly scanned the boy’s genome, compared it to his parents’ and flagged a variant on his 18th chromosome. Calvin was diagnosed with Pitt-Hopkins Syndrome, a rare genetic disorder that affects only 250 children worldwide. At last, Audrey and Eric had a concrete diagnosis and clear direction for seeking the best treatment for their son.

Now a landmark UCLA study makes a persuasive argument for the routine clinical use of exome sequencing as a tool for diagnosing children with rare genetic disorders. Published online by the Journal of the American Medical Association, the findings show that exome sequencing produced a definitive diagnosis in 40 percent of UCLA’s most complex cases — a quantum leap from the field’s 5 percent success rate two decades ago.

“Our study is the first to show that sequencing a child’s genome together with his or her parents’ dramatically improves geneticists’ ability to reach a firm diagnosis in rare disorders,” said corresponding author Dr. Stan Nelson, vice chair of human genetics and a professor of pathology and laboratory medicine at David Geffen School of Medicine at UCLA. “We discovered a genetic cause for the conditions affecting 40 percent of the hundreds of young children who come to UCLA for exome sequencing due to developmental delays or intellectual disabilities.”

When it opened in 2011, the UCLA Clinical Genomics Center was one of just three facilities in the world putting DNA sequencing to clinical use. (The others are at the medical centers at Baylor University and Harvard University.)

Unlike earlier diagnostic tools that study one gene at a time, exome sequencing rapidly sifts through all of the 37 million base pairs in a person’s 20,000 genes to tease out the single DNA change that causes the genetic disorder.

For the two-year study, Nelson worked with first author Hane Lee, a UCLA assistant adjunct professor of pathology, to sequence and analyze the exomes of 814 children whose symptoms had baffled previous clinicians despite exhaustive genetic, biochemical and imaging tests. The researchers sequenced the genomes of each child and their parents and then funneled the raw data through high-powered computers and specialized software to identify variants from the standard human genome.

Next, the team filtered the data based on patients’ family histories and other relevant aspects of their conditions. The researchers pored through medical literature to find all genes and mutations linked to each patient’s symptoms. Finally, UCLA’s Genomics Data Board, a multidisciplinary team of experts, reviewed the findings to reach a diagnosis.

The entire process typically takes less than eight weeks, although tests have been completed within 10 days in medically urgent situations. With preauthorization, many insurance providers cover the cost to sequence a child and both parents. If not, the out-of-pocket fee is $6,650.

Audrey Lapidus said that having a diagnosis for Calvin “meant the world.” A former journalist, she investigated his disorder extensively, launched the Pitt-Hopkins Research Foundation and helped raise $1 million to fund research on the syndrome. She is passionate about promoting the availability of exome sequencing to parents and physicians, who often don’t inform families that the test is available.

Pitt-Hopkins Syndrome can cause delayed intellectual and motor skill development, breathing problems and seizures. Now an adorable 3-year-old, Calvin still cannot walk and may never speak. Still, Audrey Lapidus said she and Eric would rather know what to expect for their son than have to continue living in diagnostic limbo.

“All families deserve a clear diagnosis of their child’s condition,” said study co-author Dr. Wayne Grody, director of the UCLA Clinical Genomics Center and a professor of pathology, human genetics and pediatrics at the Geffen School of Medicine and Mattel Children’s Hospital UCLA. “Exome sequencing plays an important role in identifying the precise cause of a child’s illness. This is immediately useful to families and physicians in understanding how the disease occurred, preventing unnecessary testing, and developing the best strategies to treat it.”

The Clinical Genomics Center provides extensive counseling to guide families through the tests and prepare them for the results. The team also coordinates multidisciplinary care with UCLA specialists to address the medical complications associated with each child’s illness.

“Many parents of a child with a genetic disorder postpone getting pregnant for fear of passing the same disease on to future children,” said Naghmeh Dorrani, a UCLA genetic counselor and co-author of the study. “Exome sequencing can ease this concern by helping us to identify the risk of recurrence and offer parents appropriate prenatal testing options.”

The study’s other co-authors were Joshua Deignan, Samuel Strom, Sibel Kantarci, Fabiola Quintero-Rivera, Kingshuk Das, Traci Toy, Bret Harry, Michael Yourshaw, Michelle Fox, Brent Fogel, Julian Martinez-Agosto, Derek Wong, Vivian Chang, Perry Shieh, Christina Palmer, Katrina Dipple and Eric Vilain, all of UCLA. Several of the authors are affiliated with UCLA’s department of pathology and molecular medicine, which derives revenue from the clinical exome sequencing test.

The study was supported by grants from the National Center for Advancing Translational Science, the National Institute of Arthritis and Musculoskeletal and Skin Diseases, the California Institute of Regenerative Medicine and K12 Child Health Research Career Development Award, and the Hyundai Hope on Wheels Scholar Award.

For more information about clinical exome sequencing, contact the UCLA Clinical Genomics Center at (310) 267-2680.

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Researcher receives award from American Academy of Pediatrics


Randi Hagerman honored with one of most prestigious awards for pediatricians in U.S.

Randi Hagerman, UC Davis

Randi Jenssen Hagerman, medical director of the UC Davis MIND Institute, Distinguished Professor of Pediatrics and Endowed Chair in Fragile X Research and Treatment, has received the prestigious C. Anderson Aldrich Award in Child Development for her outstanding contributions in the field of child development from the American Academy of Pediatrics (AAP), the professional organization for pediatricians in the United States.

The award recognizes pediatricians and non-pediatricians for their respective contributions to the field of developmental and behavioral pediatrics. It was presented at the American Academy of Pediatrics Section on Developmental and Behavioral Pediatrics national conference in San Diego on Oct. 12.

I am greatly honored by this award, humbled  after reading the list of previous recipients, and pleased that the AAP recognizes the importance of targeted treatments for individuals with neurodevelopmental disorders,” Hagerman said.

Hagerman is an internationally recognized clinician/scientist, director of the clinical trials program and founder of the Fragile X Research and Treatment Center at the MIND Institute. In 2001, with her husband, Paul J. Hagerman, UC Davis Distinguished Professor of Biochemistry and Molecular Medicine, she discovered fragile X-associated tremor/ataxia syndrome (FXTAS), a neurological disorder that affects older carriers of the fragile X premutation. In 1984 she co-founded the National Fragile X Foundation.

“This award is well-deserved recognition for Dr. Hagerman’s lifelong commitment to children with fragile X syndrome and their families,” said Leonard Abbeduto, Tsakopoulos-Vismara Endowed Chair of psychiatry and behavioral sciences and director of the MIND Institute. “She has helped thousands of people directly through her clinical care, and countless more through her groundbreaking research on the causes, consequences and treatment of FMR1-related disorders.”

“She also has trained and mentored a generation of pediatricians who will carry the field forward for decades to come,” Abbeduto continued. “It is certainly fitting that Dr. Hagerman is added to the list of luminaries who have received this award before her.“

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UC Davis names chief of pediatric general, thoracic and fetal surgery


Shinjiro Hirose joins from UCSF.

Shinjiro Hirose

Shinjiro Hirose, a nationally recognized fetal and pediatric surgeon, has joined the faculty of the UC Davis School of Medicine as chief of the newly established Division of Pediatric General, Thoracic and Fetal Surgery in the Department of Surgery.

Before joining UC Davis, Hirose was the lead pediatric surgeon at the UC San Francisco Benioff Children’s Hospital and its Fetal Treatment Center, specializing in minimally invasive surgery for gastrointestinal, biliary, liver and thoracic disorders in fetuses in utero and children. He and his mentor, internationally renowned pediatric surgeon Diana Farmer, were key in developing the Fetal Treatment Center.

“With Shin’s arrival at UC Davis, we can now forge ahead in creating the first comprehensive fetal diagnosis and therapy center in the Sacramento region. Our ‘dream team’ is complete,” said Farmer, who is chair of the Department of Surgery and surgeon-in-chief at UC Davis Children’s Hospital.

“We are establishing a world-class center to serve the needs of the children in the Sacramento region, the Central Valley and beyond,” Hirose said. “I will be partnering with our existing pediatric surgery group to expand our specialty surgical services. I met with so many families from this area when I worked at UC San Francisco. Now, those families can receive the same level of expertise and care that they received in the Bay Area, but much closer to home.”

Hirose is one of the creators of the University of California Fetal Therapy Consortium, a statewide collaboration at all five of the fetal treatment programs at the University of California campuses with medical centers at Davis, San Francisco, Los Angeles, Irvine and San Diego.

In addition to his background in fetal medicine, he is a nationally recognized children’s cancer surgeon and an expert in the development and use of surgical robotics in children.

Hirose also has a joint appointment as director of pediatric surgery at Shriners Hospitals for Children – Northern California, where he will develop a surgical program to serve children with complex colorectal and pelvic floor anomalies and a bowel-management program.

Hirose earned his bachelor’s of science degree in mechanical engineering at the Massachusetts Institute of Technology and his medical doctorate from New York Medical College. He completed surgical residencies at UC Davis and UC San Francisco, a fellowship in fetal diagnosis and therapy at UC San Francisco, and a  fellowship in pediatric surgery at Columbia University in New York.

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Teens help family of girl with liver cancer


Westside teens ‘aiming to do good wherever good can be done’ aid UCLA patient, her family.

David Mezquita kisses his 4-year-old daughter Vicky, who has liver cancer and is undergoing treatment at Reagan UCLA Medical Center. To help the family pay for nursing care, an organization of Westside teenagers raised money through a garage sale.

When Myra and David Mezquita of the South Bay had triplets, they knew they were blessed even though they had their hands more than full caring for the new arrivals as well as their teenagers.

Then one of the triplets, Vicky, was diagnosed with liver cancer and needed a transplant, which was performed at UCLA in April 2013 by Dr. Ronald Busuttil, distinguished professor and executive chairman of the UCLA Department of Surgery. Things seemed to be going well at first. But sadly, less than a year later, Vicky was diagnosed with recurrent cancer in her new liver.

To eradicate some liver tumors that remained unaffected by the chemotherapy, the 4-year-old underwent chemotherapy and stereotactic body radiation therapy (SBRT), a newer radiation treatment that noninvasively focuses high doses of radiation to kill tumors in a few treatment sessions.

The Mezquitas were juggling treatment appointments and caring for their other children when they lost crucial supplemental funding they had used to pay for nursing care for Vicky. Piling onto the family’s troubles, a utility-sparked fire that occurred about the time of Vicky’s transplant destroyed their backyard, including all the fencing and landscaping, leaving the children no safe place to play. Because of Vicky’s need for intense care following the transplant, no repairs were ever made, said her mother Myra Mezquita.

Members of Teamwork Makes the Dream Work join medical staff and family members at Vicky Mezquita's bedside in Reagan UCLA Medical Center.

Fortunately, some Westside teens who raise money to help sick children through a charity they co-founded, Teamwork Makes the Dream Work, found out about the family’s plight. Guided by the organization’s motto, “Aiming to do good wherever good can be done,” they held their annual garage sale and raised more than $5,100 for Vicky’s family, money that will help them augment her nursing care and create a new backyard for Vicky and her siblings to enjoy.

“We went all over the Westside, from Santa Monica to West Hollywood, gathering donations for the garage sale,” group member Nahal Shakib, 19, of Pacific Palisades said. “It was really important to us to raise a lot of money.”

Shakib and three members from Brentwood — Jasmine Shaouli, 18; Leila Aframian, 17; and Devon Shalom, 17 —  recently presented a check to David Mezquita, who was visiting his daughter while she was in Reagan UCLA Medical Center because of a low white blood cell count caused by the chemotherapy. The teens also brought gifts for Vicky’s siblings as well.

Dr. Julie Kang, a resident in the Department of Radiation Oncology, was able to connect the teens with the Mezquita family through a mutual friend. Kang was there when the check and gifts were presented to the family, along with Vicky’s radiation oncologist, Dr. Percy Lee, who oversaw the radiation treatments, and nurse Adriana Grandpre-Aguiar, who assisted with her care.

“It takes a lot of help to make good things happen,” the grateful father said. “I’m very happy and pleased that everyone joined together as a team to make this happen. I’m very touched.”

Myra Mezquita said that, at times, the circumstances her family is dealing with are “beyond imaginable. I can’t express the magnitude of our gratitude for the support we received from everyone.”

Lee, an associate professor of radiation oncology and director of UCLA’s SBRT program, said he was pleased they were able to treat all the visible cancer with the new radiation therapy. “This little girl has been through a lot in the last four years, and we are hopeful that the treatments give her a fighting chance,” he said.

Lee added that he was glad the family was getting some financial assistance. Even with their money woes, he said, the Mezquita family had recently given him a thoughtful gift card to pay for his lunch at a local eatery.

Kang said it was difficult watching the Mezquitas guide their child through a second bout of liver cancer.

“Parents can sometimes feel so alone in this big battle,” she said. “It’s beyond amazing that these angels came out of nowhere to help them out.”

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UC Davis names chief of pediatric cardiology


Stuart Berger joins from Children’s Hospital of Wisconsin.

Stuart Berger

Stuart Berger, one of the nation’s premier pediatric cardiologists and the leader in a national campaign to prevent sudden cardiac arrest deaths in children and teens, has joined the faculty of the UC Davis School of Medicine as professor and vice-chair of the Department of Pediatrics and chief of the Division of Pediatric Cardiology.

Before joining the faculty, he was chief of pediatric cardiology and medical director of the Herma Heart Center at the Children’s Hospital of Wisconsin in Milwaukee and professor of pediatrics at the Medical College of Wisconsin. Under his leadership, Children’s Hospital of Wisconsin rose to become one of the top pediatric heart centers in the country, ranked #5 by U.S. News & World Report this year.

“We are excited to welcome Dr. Berger to UC Davis with his expertise, focus on quality outcomes and international reputation. We are eager to implement his vision for improving access to high-quality cardiac care for the children of Northern California,” said Robin Steinhorn, chair of the UC Davis Department of Pediatrics.

Berger’s clinical and research interests include congenital heart disease in fetuses, neonates, infants, children and adults; pulmonary hypertension; heart failure in children; sudden cardiac death in youth; and the resuscitation of children and young adults.

His commitment to assist youth who suffer sudden cardiac arrest led him to start Project ADAM (Automated Defibrillators in Adam’s Memory), named in honor of a high school basketball player who died on the court due to an undiagnosed heart problem. The national program aims to prevent sudden cardiac arrest in children and teens through education and life-saving programs, including expanding the availability of automated external defibrillators (AEDs), which help restore heart rhythm and improve survival from cardiac events. More than 85 lives have been saved so far through Project ADAM, which has been in operation for 15 years.

Berger received his medical doctorate from the University of Wisconsin Medical School in Madison and completed his pediatric residency at the University of Chicago Wyler Children’s Hospital and his fellowship in neonatology and pediatric cardiology at the University of Chicago. He is board certified in pediatrics and pediatric cardiolology.

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UC Davis pediatrician named Quality Improvement Project Leader


Ulfat Shaikh to lead project for the American Academy of Pediatrics.

Ulfat Shaikh, UC Davis

Ulfat Shaikh, director for healthcare quality at UC Davis School of Medicine and pediatrician at UC Davis Children’s Hospital, has been named the Quality Improvement Project Leader for the American Academy of Pediatrics’ (AAP) Council on Quality Improvement and Patient Safety (COQIPS).

She will be leading a project on behalf of the AAP to improve the care of children and adolescents by utilizing clear communication strategies in clinical settings. This project will be the first of its kind to incorporate Maintenance of Certification Part 4 credits into a council program at the AAP National Conference and Exhibition, the academy’s largest gathering of members.

Through its Maintenance of Certification (MOC) Part 4 program, the American Board of Medical Specialities requires physicians seeking board certification to participate in quality improvement programs in their practice where they regularly assess their patients’ outcomes, identify areas for improvement, implement evidence-based changes to their practice and track their results. Clinicians participating in this AAP pilot project will submit baseline data for their own patients using the AAP Quality Improvement Data Aggregator system, attend a learning session at the AAP National Conference & Exhibition, submit data during the action period, participate in webinars to learn about health literacy and quality improvement methods, review their performance improvement data using run charts and implement improvement cycles based on learnings from their performance data.

As project leader, Shaikh’s responsibilities will include providing leadership to the COQIPS project planning group in accomplishing its goals, establishing the framework of the project, overseeing and approving a system to track and monitor physician participation, facilitating meetings and webinars, conducting day-to-day oversight and management of the project and developing project materials.

“It is an honor to partner with the AAP, an organization highly respected for its advocacy of children and their families, to create a new model that involves front-line clinicians in quality improvement activities,” said Shaikh. ”Just like my other colleagues, I have been trying to select MOC opportunities that not only allow me to complete my board recertification requirements, but that also help me provide better care to my patients. Improving health literacy and provider-patient communication is a national health priority and is a great focus area for this project.”

This project will serve as a model and a replicable standard for how other AAP councils and sections can provide MOC Part 4 opportunities to their members.

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Innovation Profile: Ulfat Shaikh

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Autism early-detection program expands


Developed at UC San Diego, effort seeks to identify at-risk toddlers by first birthday.

Karen Pierce, UC San Diego

Autism spectrum disorder (ASD) is now estimated to impact 1 in every 68 children born in the United States. Yet despite its rising prevalence and the known benefits of early detection and treatment, toddlers in much of the United States are routinely not identified as possibly having ASD until well after their third birthday.

“By that time, much precious brain development has already occurred,” said Karen Pierce, Ph.D., associate professor of neurosciences at the UC San Diego School of Medicine and assistant director of the UC San Diego Autism Center of Excellence.

A new 5-year, $5.1 million grant from the National Institute of Mental Health (NIMH) seeks to remedy that by expanding a program developed by Pierce and colleagues to reduce the mean age of ASD diagnosis in multiple cities across the U.S.

The program, called Get SET Early, is based upon a one-year well-baby check that Pierce first described in a paper published in 2011. In those findings, Pierce and colleagues reported that San Diego toddlers who were systematically assessed for ASD around their first birthday typically began receiving treatment within a few months, years before children in many other cities.

With NIMH funding, the Get SET Early program expands upon Pierce’s original model, adding new features and technologies, such as an iPad-based automatic referral system.

The improved model consists of three stages: In the Screening stage, a network of pediatricians conduct repeat evaluations of toddlers at multiple ages – 12, 18 and 24 months – using standardized testing and scoring. “Since the symptoms of autism can come on slowly between 12 and 24 months, if we screen three times, we are almost guaranteed to detect the overwhelming majority of children with this disorder,” Pierce said.

In the second Evaluation stage, toddlers who may have ASD are immediately referred to local clinics that specialize in ASD for more detailed evaluation.

In the final stage, Treatment, toddlers showing clear signs of ASD are referred to an established network of health care specialists for rapid treatment. “There is evidence that early therapy can have a positive impact on the developing brain,” Pierce said. “The opportunity to diagnose and thus begin treatment for autism around a child’s first birthday has enormous potential to change outcomes for children affected with the disorder.”

The Get SET Early program will expand first to Phoenix, which has one of the oldest average ages of ASD detection in the country. A recent survey conducted by the U.S. Centers for Disease Control found that children with autism living in Phoenix were typically not identified until they were almost 5 years old.

In her 2011 study, published in the Journal of Pediatrics, Pierce and colleagues created a network of 137 pediatricians in the San Diego region and asked them to include a brief assessment at the toddlers’ traditional one-year health checkup. The assessment consisted of parents or caregivers answering a questionnaire called the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist that queried about a child’s use of eye contact, sounds, words, gestures, object recognition and other forms of age-appropriate communication. Any infant who failed the screening was referred to the UC San Diego Autism Center of Excellence for further testing and re-evaluation every six months until age three.

While the NIMH grant will initially test the feasibility of establishing the Get SET Early model in Phoenix, research and testing will also continue in San Diego to assess the efficacy of new improvements, such as repeat triple screenings and Internet-based tracking of referrals and treatment.

“By creating a simple screening, evaluation and treatment initiation and tracking model, we hope to establish national standards so that one day ASD detection and treatment between the first and second birthday will happen for all children,” said Pierce.

Funding for this work comes from the National Institutes of Health and NIMH (grant R01 MH104446-01).

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Treating babies for autism may stave off symptoms


Infant Start therapy treats disabling delays before most kids are diagnosed with autism.

Sally Rogers, UC Davis

Treatment at the earliest age when symptoms of autism spectrum disorder (ASD) appear – sometimes in infants as young as 6 months old – significantly reduces symptoms so that, by age 3, most who received the therapy had neither ASD nor developmental delay, a UC Davis MIND Institute research study has found.

The treatment, known as Infant Start, was administered over a six-month period to 6- to 15-month-old infants who exhibited marked autism symptoms, such as decreased eye contact, social interest or engagement, repetitive movement patterns and a lack of intentional communication. It was delivered by the people who were most in tune with and spent the most time with the babies: their parents.

“Autism treatment in the first year of life: A pilot study of Infant Start, a parent-implemented intervention for symptomatic infants,” is co-authored by UC Davis professors of Psychiatry and Behavioral Sciences Sally J. Rogers and Sally Ozonoff. It is published online today (Sept. 9) in the Journal of Autism and Developmental Disorders.

“Most of the children in the study, six out of seven, caught up in all of their learning skills and their language by the time they were 2 to 3,” said Rogers, the study’s lead author and the developer of the Infant Start therapy. “Most children with ASD are barely even getting diagnosed by then.”

“For the children who are achieving typical developmental rates, we are essentially ameliorating their developmental delays,” Rogers said. “We have speeded up their developmental rates and profiles, not for every child in our sample, but for six of the seven.”

Rogers credited the parents in the small, pilot study with making the difference.

“It was the parents – not therapists – who did that,” she said. “Parents are there every day with their babies. It’s the little moments of diapering, feeding, playing on the floor, going for a walk, being on a swing, that are the critical learning moments for babies. Those moments are what parents can capitalize on in a way that nobody else really can.”

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UC autism summit offers hope for help

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SF celebrates 3 new hospitals with stars, lights and action


UCSF Hard Hat Walk, Lights On Festival draw thousands to Mission Bay.

San Francisco’s Mission Bay district became a melting pot of celebrities, civic dignitaries, community members and assorted creatures of unknown species with dazzling outfits and daring dance moves, as the city marked the upcoming opening of the new UCSF Medical Center.

Thousands joined in Saturday’s revelry, starting with the 5K Hard Hat Walk along the waterfront and through the Mission Bay neighborhood and ending with the Lights On Festival in the public plaza outside the medical center complex. The event culminated in a multicolor light show illuminating the windows of the three hospitals opening on Feb. 1, 2015: UCSF Benioff Children’s Hospital San Francisco, UCSF Bakar Cancer Hospital and UCSF Betty Irene Moore Women’s Hospital.

Donors and attendees of the celebration raised more than $525,000 for the new hospitals, exceeding the fundraising goal of $500,000.

Kicking off the Hard Hat Walk, UCSF Medical Center CEO Mark Laret paid tribute to the construction crew, staff and fundraisers. He urged the crowds to remind themselves that with “every step you take, think about a child whose life is going to be saved in that hospital and a mom who’s going to have an easier birth because of innovations here.”

There was plenty of levity to offset the serious moments.

A number of teams assembled for the walk dressed in fun costumes. UCSF Chief Information Officer Joe Bengfort nixed the sweats in favor of Luke Skywalker duds to lead his team, the Jedi Masters, which raised close to $12,000. The UCSF Cancer Crusaders donned superhero masks and capes; the Children’s Emergency Department team all wore rainbow tutus; and Remembering Maggie McDonald – one of the top patient fundraising teams – sported yellow hard hats in tribute to 19-year-old Maggie, a longtime patient of UCSF Benioff Children’s Hospital San Francisco who passed away earlier this year.

At the festival, families enjoyed pastries, tacos and other tasty treats from top local restaurants, while children got their faces painted, participated in wall art, played bungee run and danced to Vocal Rush, a teen a cappella group from the Oakland School for the Arts. Other participants decompressed with chair messages or a snuggle with a friendly possum from the San Francisco Zoo’s Zoomobile.

Adding razzle-dazzle to the event were Jesse Tyler Ferguson, star of the ABC television show “Modern Family,” Olympic champion figure skater Kristi Yamaguchi and San Francisco Giants home run king Barry Bonds, a longtime friend and supporter of UCSF Benioff Children’s Hospital San Francisco (“my brother from another mother,” according to Ferguson).

The midafternoon sun had segued into an early evening chill by the time celebrated singer and Bay Area native Michael Franti took the stage. But the audience warmed up dancing to his hits, “I’m Alive” and “Say Hey.”

At his invitation, a group of patients joined him on stage. The new hospitals were very personal to him, Franti explained, because his 15-year-old son had been a long-term patient at UCSF Benioff Children’s Hospital San Francisco. The audience nodded in unison, knowing the hospitals will play a key role in their health and that of their loved ones for generations to come.

David Chiu, president of the San Francisco Board of Supervisors, said it best when he addressed the crowd: “This is a moment in time so special for San Francisco.”

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Diaper detective


Students develop inexpensive, versatile pad to detect medical problems in infants.

A team of UC Riverside Bourns College of Engineering students created an inexpensive pad that can be inserted into diapers to detect dehydration and bacterial infections in infants.

The product, which recently won an award that included a $10,000 prize at a national engineering design contest, operates much like a home pregnancy test or urine test strip. Chemical indicators change color when they come in contact with urine from an infant who is suffering from dehydration or a bacterial infection.

The pad, which is 2.5 inches by 5 inches and called “The Diaper Detective,” is attractive for numerous reasons. It costs 34 cents to make. It doesn’t require electricity, cold storage or an advanced education to interpret. It’s customizable so that other chemical indicators can be added to test for other medical conditions. And it could be adapted to be used in adult diapers.

“We created this to fulfill a need for a versatile, inexpensive, non-invasive method of urine collection in developing countries and elsewhere,” said Veronica Boulos, one of the team members. “The beauty of this is that it solves a huge problem with simplicity.”

Strike against infant mortality

The Diaper Detective addresses the worldwide problem of infant mortality in developing nations. Of the estimated 3.9 million annual neonatal deaths, 98 percent occur in developing countries and could be prevented with access to low cost, point-of-care diagnostics.

In developing countries, the students hope the Diaper Detective will be distributed via relief organizations. In the United States, the students believe the pad would qualify for reimbursement through medical insurance, making it an inexpensive option for low-income users.

The uniqueness of the diaper insert comes from the use of lateral flow channels that guide the user’s urine to the reactive regions where the color change takes place. The lateral flow channels were originally created using Crayola crayons and are now created by paraffin wax and a laser printer.

The students won a third place award at the National Institute of Biomedical Imaging and Engineering Design by Biomedical Undergraduate Teams Challenge. They have also submitted the product to the National Collegiate Inventors and Innovators Alliance BMEStart competition.

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Study IDs genetic factors involved in pediatric ulcerative colitis


Findings point to novel approaches for prevention, treatment.

Microscope images of a normal mouse colon (left) and one with colitis (right).

UCLA researchers were part of a team that has discovered the interplay of several genetic factors that may be involved in the development of early-onset ulcerative colitis, a severe type of inflammatory bowel disease.

The early research findings may offer new targets for prevention and treatment strategies to address the inflammation generated by early-onset ulcerative colitis.

The rare disease affects infants and young children and can lead to early development of colon cancer and an increased risk of liver damage.

Scientists from the David Geffen School of Medicine at UCLA and Pusan National University in South Korea also created a first-of-its-kind animal model that mimics early-onset ulcerative colitis and can be used to help test new drug candidates to treat the disease. Their findings are published in the current issue of the peer-reviewed journal Gastroenterology.

“We hope that identifying these key genetic factors and providing a unique research model will help lead to new approaches to treat early-onset ulcerative colitis, a devastating disease that currently has no cure,” said Dr. Sang Hoon Rhee, the study’s senior author and an associate adjunct professor of medicine in the Division of Digestive Diseases at the David Geffen School of Medicine at UCLA.

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Pediatric transplant recipients, families celebrate at UCSF picnic


19th annual picnic points to growing success of organ transplants.

About 300 transplant recipients, donors and family members attended the 19th Annual Chris Mudge UCSF Pediatric Transplant Picnic on Aug. 23.

On a bright summer Saturday, dozens of children and their family members gathered at McNears Beach Park in San Rafael, listening to music, kayaking, having their faces painted, smashing piñatas, even playing with costumed Smurfs. For this group, the outlook wasn’t always this sunny.

The children are part of a special group: they’re pediatric transplant recipients from UCSF Benioff Children’s Hospital San Francisco.

The 19th Annual Chris Mudge UCSF Pediatric Transplant Picnic on Aug. 23 gave children who received transplants from UCSF and their families an opportunity to come together for support, to share knowledge and to celebrate having another chance at life. The 300 attendees included those who had received pre- and post-liver, kidney and small bowel transplants, as well as physicians, transplant surgeons, nurses and others from the UCSF Transplant Service.

“Some of my patients now are married and come to the picnic,” said Phil Rosenthal, M.D., former medical director of the pediatric liver transplant program and current director of pediatric hepatology at UCSF. “A lot of our families look forward to coming back to this picnic each year to reconnect.”

One of those returning patients was Justin Erickson of Redwood City. In 1992, he needed a liver transplant due to biliary atresia, a life-threatening condition in which the bile ducts are blocked.

Twenty-two years later, the 31-year-old city of San Carlos employee is a husband and father of a 5-month-old daughter.

“The first five years after the transplant, it was a real rough battle,” said Erickson, who has attended every picnic. “I had a lot of ups and downs, but I’m doing pretty good now. It’s amazing all the things I’ve accomplished and the goals that I’ve met after the transplant.”

In sharing his personal experience, Erickson has advice for pediatric patients and their families awaiting a transplant at UCSF.

“If you are looking to have a transplant at UCSF, hold your hopes up,” he said. “You definitely are talking to the right caregivers. Benioff Children’s Hospital San Francisco is the place to be with the cutting-edge technology and the doctors that have the know-how.”

Erickson is living proof of the growing success of organ transplants. Before, a 50-percent success rate was considered satisfactory. Now, thanks to medical advances and improved immunosuppressive drugs to combat infection and rejection, more than 90 percent of transplant patients are surviving, including children.

Founded in the 1960s, the UCSF Transplant Service is a world leader in clinical transplantation and has developed innovative techniques while producing superior outcomes. UCSF began pediatric kidney transplants in 1964 and pediatric liver transplants in 1989, making it among the oldest children’s transplant services in the country.

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