Rady Childrens Hospital San Diego
Rady Childrens Hospital San Diego
News Article | May 16, 2017
SAN DIEGO & NEW HAVEN, Conn.--(BUSINESS WIRE)--The Rady Children’s Institute for Genomic Medicine (RCIGM) and Alexion Pharmaceuticals, Inc. (NASDAQ:ALXN) today announced a strategic partnership to accelerate the diagnosis of critically-ill newborns with rare genetic disorders. The collaboration combines the Institute’s genomic research expertise with Alexion data science and bioinformatics capabilities to advance precision medicine for infants in an intensive care setting. “Diagnosing acutely ill babies is a race against the clock, so it’s essential for physicians to have access to solutions that will provide answers faster and help set the course of treatment,” said Stephen Kingsmore, MD, DSc, President and CEO of the Institute. “Winning this race will require collaborative effort, which is why we are delighted to work with the people at Alexion who share our vision for unraveling the mysteries of genetic disease and giving hope to families with critically sick newborns.” There is great need for employing such technology in medicine. As many as 15 percent of babies born in the United States are admitted to neonatal or pediatric intensive care units (NICU/PICU). Among these infants, up to one-third are likely to be affected by genetic diseases or congenital anomalies which are also the leading cause of death among babies in the NICU. 1-11 Rapid diagnosis through genome sequencing can provide definitive answers, allowing physicians to provide timely, targeted treatment that can help prevent a needless diagnostic odyssey and improve medical outcomes. The rapidly falling cost of whole-genome sequencing increases the feasibility for clinical testing for rare genetic diseases. However, the amount and complexity of data continues to grow. “In rare diseases, rapid diagnosis is made all the more challenging by the significant amount of genomic and phenotypic data a clinician must sift through to reach a diagnosis,” said John Reynders, PhD, Vice President of Data Sciences, Genomics, and Bioinformatics at Alexion. “This collaboration will help accelerate an accurate diagnosis for patients with genetic diseases, clarify available paths of intervention and provide hope to families.” Under the partnership, Alexion will share, research and further refine the SmartPanel, a platform developed by Alexion that personalizes and prioritizes suspected rare-disease genes from a patient's next-generation sequenced genome and specific clinical presentation. The Rady Children’s Institute for Genomic Medicine is evaluating the SmartPanel in research to establish positive predictive value, enable electronic medical record (EMR) integration for rapid phenotypic extraction and assess overall patient outcomes via earlier diagnosis. Both organizations will collaborate on patient and disease characterization, algorithmic modules and scalability with a shared goal of contributing core capabilities to the open source community to accelerate research in the challenging area of pediatric rare-disease diagnosis. The institute is leading the way in advancing precision healthcare for infants and children through genomic and systems medicine research. Discoveries at the Institute are enabling rapid diagnosis and targeted treatment of critically ill newborns and pediatric patients at Rady Children’s Hospital-San Diego. The vision is to develop an integrated process that can be expanded to deliver precision pediatric medicine at children’s hospitals in California, the nation and the world. RCIGM is a division of Rady Children’s Hospital-San Diego. Learn more at www.RadyGenomics.org. Rady Children’s Hospital-San Diego is a 551-bed pediatric care facility providing the largest source of comprehensive pediatric medical services in San Diego, Southern Riverside and Imperial counties. Rady Children’s is the only hospital in the San Diego area dedicated exclusively to pediatric healthcare and is the region’s only designated pediatric trauma center. In June 2016, U.S. News & World Report ranked Rady Children’s among the best children’s hospitals in the nation in nine pediatric specialties. Rady Children’s is a nonprofit organization that relies on donations to support its mission. For more information, visit www.rchsd.org and find us on Facebook, Twitter and Vimeo. Alexion is a global biopharmaceutical company focused on developing and delivering life-transforming therapies for patients with devastating and rare disorders. Alexion is the global leader in complement inhibition and has developed and commercializes the first and only approved complement inhibitor to treat patients with paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS), two life-threatening ultra-rare disorders. In addition, Alexion’s metabolic franchise includes two highly innovative enzyme replacement therapies for patients with life-threatening and ultra-rare disorders, hypophosphatasia (HPP) and lysosomal acid lipase deficiency (LAL-D). Alexion is advancing its rare disease pipeline with highly innovative product candidates in multiple therapeutic areas. This press release and further information about Alexion can be found at: www.alexion.com.
Pandya N.K.,University of California at San Francisco |
Edmonds E.W.,Rady Childrens Hospital San Diego
Journal of Pediatric Orthopaedics | Year: 2012
Background: Flexible nailing has become the preferred implant for pediatric patients with tibial shaft fractures that require operative fixation. Immediate definitive fracture fixation with flexible nails in patients with high-energy, open fractures has not been examined. The purpose of our study was to determine if immediate flexible nailing of open pediatric tibial shaft fractures is safe and efficacious from a bone healing, wound, and infectious standpoint. Methods: A retrospective review of 26 tibial shaft fractures consecutively treated with flexible nailing at our institution from 2003 to 2010 was performed. Age, mechanism of injury, associated injuries, presence of compartment syndrome, antibiotic administration, systemic insults, time to union, as well as bone healing (nonunion, delayed union, malunion, leg length discrepancy, growth arrest), wound, and infectious complications were collected. Comparisons were made between patients with open fractures and those with closed fractures. Results: We identified 14 patients with open fractures and a control group of 12 patients with closed injuries who underwent flexible nailing. Patients with open fractures were more likely to have polytraumatic injuries (71.0% vs. 25.0%, P=0.04). There was no difference (P=1.0) in the rates of compartment syndrome (open=14.0%, closed=17.0%) between the 2 groups. Systemic complications (pulmonary compromise and increased intracranial pressure) were noted in 2 patients who underwent immediate nailing of their open fractures; both of whom had closed head injuries. There was no difference (P=1.0) in the rates of wound/infectious complications between the open (7.0%) and closed (4.0%) fractures groups, with no cases of wound breakdown or osteomyelitis. There was an increased rate (P=0.02) of bone healing complications in the open fracture group (21.0% vs. 4.0%); all in patients with Gustilo type 2 or 3 injuries. All patients achieved radiographic union at final follow-up. Conclusions: Immediate flexible nailing of open pediatric tibial shaft fractures can be safely performed with minimal risk of wound or infectious complications. Clinicians should understand that prolonged bone healing (particularly in Gustilo type 2 or 3 injuries) should be expected in patients who undergo immediate flexible nailing of their open fractures. Open tibial shaft fractures are high-energy injuries, and should be seen as surrogate markers of polytrauma in the pediatric population. The risk of compartment syndrome is high regardless of whether a patient has a closed or open tibia fracture, and caution should be used in performing flexible nailing in patients who may have closed head injury due to a risk of systemic complications. Level of Evidence: Level III, therapeutic study, retrospective cohort. Copyright © 2012 by Lippincott Williams & Wilkins.
Pandya N.K.,Rady Childrens Hospital San Diego |
Namdari S.,University of Pennsylvania |
Hosalkar H.S.,Rady Childrens Hospital San Diego
Journal of the American Academy of Orthopaedic Surgeons | Year: 2012
There is an increasing trend toward stabilization and fixation of markedly displaced midshaft clavicle fractures in adolescents. Recent studies in the adult literature have shown a greater prevalence of symptomatic malunion, nonunion, and poor functional outcomes after nonsurgical management of displaced fractures. Fixation of displaced midshaft clavicle fractures can restore length and alignment, resulting in shorter time to union. Symptomatic malunion after significantly displaced fractures in adolescents may be more common than previously thought. Adolescents often have high functional demands, and their remodeling potential is limited. Knowledge of bone biology and the effects of shortening, angulation, and rotation on shoulder girdle mechanics is critical in decision making in order to increase the likelihood of optimal results at skeletal maturity. Selection of fixation is dependent on many factors, including fracture type, patient age, skeletal maturity, and surgeon comfort. Copyright © 2012 by the American Academy of Orthopaedic Surgeons.
Pardee P.E.,University of California at San Diego |
Dunn W.,University of Kansas Medical Center |
Schwimmer J.B.,University of California at San Diego |
Schwimmer J.B.,Rady Childrens Hospital San Diego
Alimentary Pharmacology and Therapeutics | Year: 2012
Background: Non-alcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in children. Liver disease can be a cause of low bone mineral density. Whether or not NAFLD influences bone health is not known. Aim To evaluate bone mineral density in obese children with and without NAFLD. Methods Thirty-eight children with biopsy-proven NAFLD were matched for age, gender, race, ethnicity, height and weight to children without evidence of liver disease from the National Health and Nutrition Examination Survey. Bone mineral density was measured by dual energy X-ray absorptiometry. Age and gender-specific bone mineral density Z-scores were calculated and compared between children with and without NAFLD. After controlling for age, gender, race, ethnicity and total per cent body fat, the relationship between bone mineral density and the severity of histology was analysed in children with NAFLD. Results Obese children with NAFLD had significantly (P < 0.0001) lower bone mineral density Z-scores (-1.98) than obese children without NAFLD (0.48). Forty-five per cent of children with NAFLD had low-bone mineral density for age, compared to none of the children without NAFLD (P < 0.0001). Among those children with NAFLD, children with NASH had a significantly (P < 0.05) lower bone mineral density Z-score (-2.37) than children with NAFLD who did not have NASH (-1.58). Conclusions The NAFLD was associated with poor bone health in obese children. More severe disease was associated with lower bone mineralisation. Further studies are needed to evaluate the underlying mechanisms and consequences of poor bone mineralisation in children with NAFLD. © 2011 Blackwell Publishing Ltd.
Mulligan C.K.,University of California at San Diego |
Trauner D.A.,University of California at San Diego |
Trauner D.A.,Rady Childrens Hospital San Diego
Journal of Autism and Developmental Disorders | Year: 2014
Autism spectrum disorders (ASD) are associated with an increased incidence of epilepsy and of epileptiform discharges on electroencephalograms. It is unknown whether epileptiform discharges correlate with symptoms of ASD. We completed a retrospective chart review of 101 patients with ASD who had overnight electroencephalograms. We looked for a relationship between epileptiform abnormalities and diagnosis, history of regression, communication skills, and other features associated with ASD. There was a higher incidence of epileptiform activity in children with stereotypies and aggressive behavior. The incidence of epileptiform abnormalities was significantly lower in Asperger's compared with more severe forms of autism. Results suggest that increasing severity of autistic symptoms may be associated with higher likelihood of epileptiform abnormalities. Whether treatment alters outcome is unknown. © Springer Science+Business Media 2013.
Perry J.C.,Rady Childrens Hospital San Diego
Pediatric Cardiology | Year: 2012
A key component of recognizing sudden cardiac death (SCD) risk in the adult congenital heart disease (ACHD) patient is the recognition of heart failure risk for each physiology. The risk of SCD is an accrued phenomenon, representing the influences of anatomy, genetics, surgical and catheter interventions, and long-term sequelae of residual hemodynamic issues. These all lead to a substrate for tachyarrhythmia. It is beneficial in thinking about all of the potential combinations of CHD anatomy and physiologies to categorize SCD risk for the ACHD patient in terms of systemic left-ventricular failure, systemic right-ventricular failure, subpulmonary ventricular failure, the dyssynchronous contractility states due to bundle branch block, and single-site ventricular pacing. This article reviews important issues in arrhythmogenesis for ACHD patients with all of these physiologies and discusses potential cardiac rhythm device-management needs. © Springer Science+Business Media, LLC 2012.
Schierholz E.,Rady Childrens Hospital San Diego
Advances in neonatal care : official journal of the National Association of Neonatal Nurses | Year: 2014
Therapeutic hypothermia as a neuroprotective strategy in neonates is an established standard of care for infants with hypoxic-ischemic encephalopathy (HIE) in tertiary care neonatal intensive care units (NICUs). To maximize the neuroprotective effect in infants with HIE, hypothermia is initiated as soon as possible after birth. Many infants who would benefit from therapeutic hypothermia are not born at centers that have intensive care units or offer therapeutic hypothermia and are thus transported to a tertiary care center with a NICU, offering specialty services of therapeutic hypothermia and pediatric neurology. The neonatal transport team plays a significant role in the management of these critically ill infants. Clinical research provides data for safe and effective management of these infants during therapeutic hypothermia in the NICU; however, there are no evidence-based clinical guidelines for management before and during transport. The establishment of evidence-based guidelines for cooling before and during transport will facilitate early recognition of infants who would benefit from therapeutic hypothermia therapy, and decrease delay in initiation of therapy. Careful assessment, monitoring, and intervention by the transport team are critical to provide appropriate care and ensure safe transport of these infants.
Chen T.S.,Rady Childrens Hospital San Diego |
Eichenfield L.F.,Rady Childrens Hospital San Diego |
Friedlander S.F.,Rady Childrens Hospital San Diego
Pediatrics | Year: 2013
Infantile hemangiomas (IHs) are the most common vascular tumors of childhood, affecting ~5% of all infants. Although most lesions proliferate and then involute with minimal consequence, a significant minority can be disfiguring, functionally significant, or, rarely, lifethreatening. Recent discoveries concerning hemangioma pathogenesis provide both an improved understanding and more optimal approach to workup and management. Important detrimental associations can be seen with IH, such as significant structural anomalies associated with segmental IH. Standards of care have dramatically changed evaluation and management of hemangiomas. The goal of timely recognition and therapy is to minimize or eliminate long-term sequelae. New modalities, such as oral propranolol, provide the caregiver with better therapeutic options, which can prevent or minimize medical risk or scarring, but the side effect profile and risk-benefit ratio of such interventions must always be evaluated before instituting therapy. Copyright © 2013 by the American Academy of Pediatrics.
Gunta S.S.,Rady Childrens Hospital San Diego |
Mak R.H.,Rady Childrens Hospital San Diego
Pediatric Nephrology | Year: 2013
There is a rapid increase worldwide in the prevalence of obesity in adults and children. Obesity is not only a comorbidity for chronic kidney disease (CKD) but may also be a risk factor for CKD. Epidemiological correlations and pathophysiological changes have been observed associating obesity with CKD. Low birth weight may be associated with both obesity and low nephron mass, leading to CKD later in life. Elevated levels of adipokines, such as leptin and adiponectin, in obesity may be factors in CKD pathogenesis and progression. Furthermore, various other factors, such as hypertension, increased cardiovascular morbidity, insulin resistance, dyslipidemia, and lipotoxicity, may play significant roles in the pathogenesis of CKD in obesity. Reduction in obesity, which is a potentially modifiable risk factor, might help decrease the burden of CKD in the population. Apart from individualized options, community-based interventions have the potential to create a strong impact in this condition. © 2012 IPNA.
Rady Childrens Hospital San Diego | Date: 2014-10-14
A system and method for automated quality assurance including a quality assurance application server for managing quality assurance. The quality assurance application server includes an application configuration module which has a data configuration module configured to define configurable reference fields to be captured and reviewed during the processing of the records. The application configuration module also has a rules configuration module to receive, create or modify a set of rules where the configurable reference fields are selectable when the rules are defined. The system also includes a portal module for processing the received records and applying the set of rules to the record. The portal module includes a quality assurance records review module configured to evaluate and validate the received records and to generate an output utilized to validate the record to ensure compliance with a data recipient, for example payer billing, standards.