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Mikat-Stevens N.A.,American Academy of Pediatrics | Larson I.A.,Childrens Mercy Hospitals and Clinics | Tarini B.A.,University of Michigan
Genetics in Medicine | Year: 2015

Purpose: We aimed to systematically review the literature to identify primary-care providers' perceived barriers against provision of genetics services. Methods: We systematically searched PubMed and ERIC using key and Boolean term combinations for articles published from 2001 to 2012 that met inclusion/exclusion criteria. Specific barriers were identified and aggregated into categories based on topic similarity. These categories were then grouped into themes. Results: Of the 4,174 citations identified by the search, 38 publications met inclusion criteria. There were 311 unique barriers that were classified into 38 categories across 4 themes: knowledge and skills; ethical, legal, and social implications; health-care systems; and scientific evidence. Barriers most frequently mentioned by primary-care providers included a lack of knowledge about genetics and genetic risk assessment, concern for patient anxiety, a lack of access to genetics, and a lack of time. Conclusion: Although studies reported that primary-care providers perceive genetics as being important, barriers to the integration of genetics medicine into routine patient care were identified. The promotion of practical guidelines, point-of-care risk assessment tools, tailored educational tools, and other systems-level strategies will assist primary-care providers in providing genetics services for their patients. © 2015 American College of Medical Genetics and Genomics. Source

O'Donnell R.,Childrens Mercy Hospitals and Clinics
Pediatrics | Year: 2013

Children's hospitals play a central role in our child health care system. These hospitals face unique challenges under health care reform. They care for children with the most complex medical problems but often are not reimbursed for good preventive care, care coordination, or quality. We discuss a proposal by children's hospital leaders to create a network of Nationally Designated Children's Hospitals. These would be Centers of Excellence on which states and families could rely to care for a uniquely vulnerable and uniquely costly population of children. On a federal level, the proposal is focused on 3 provisions: (1) creating and delivering a national coordinated delivery model for children with chronic and complex conditions in Medicaid and the State Child Health Insurance Program; (2) developing pediatric-specific care coordination guidelines, quality metrics, and network adequacy standards to improve pediatric care delivery; and (3) producing cost savings by reducing fragmentation in care delivery, while providing a payment model that provides a significant measure of budget certainty for states and the federal government, either through a bundled payment or a shared savings payment method. We believe that this approach will ensure access to appropriate care without compromising the quality of care. It will also provide enhanced budget certainty for Medicaid and the State Child Health Insurance Program. Copyright © 2013 by the American Academy of Pediatrics. Source

Gamis A.S.,Childrens Mercy Hospitals and Clinics | Smith F.O.,University of Cincinnati
British Journal of Haematology | Year: 2012

Children with trisomy 21 have a unique predisposition to develop a megakaryoblastic proliferative disease of varying severity during their first 3 months of life. This disorder exists in no other children or adults without the presence of trisomy 21 and only occurs in the fetal or neonatal period of life. Its spontaneous resolution in most cases further delineates it from otherwise indistinguishable neonatal leukaemias. The identification that GATA1 mutations are the leukaemogenic source along with three recently reported prospective clinical trials now provide a clearer understanding of this haematopoietic disorder. These recent advances in this enigmatic disorder, now known as Transient Myeloproliferative Disorder, are reviewed here in order to bring clarity to the breadth of organ involvement, the range of severity, the risk factors for mortality, the therapeutic options for severe manifestations, the natural course of spontaneous resolution regardless of therapy, and the elucidation of the subsequent risk for myeloid leukaemia. © 2012 Blackwell Publishing Ltd. Source

Saps M.,Ann and Robert H. Lurie Childrens Hospital of Chicago | Nichols-Vinueza D.X.,Boston Childrens Hospital | Rosen J.M.,Childrens Mercy Hospitals and Clinics | Velasco-Benitez C.A.,University of Valle
Journal of Pediatrics | Year: 2014

Objectives To determine prevalence for functional gastrointestinal disorders (FGIDs) in Colombian school children using the Questionnaire on Pediatric Gastrointestinal Symptoms-Rome III Version (QPGS-III) and to determine possible risk factors. Study design The QPGS-III was translated into Spanish then reverse translated by a team of bilingual physicians. Focus groups of Colombian children were conducted to assure understanding of the Spanish version. Children at 1 public school and 2 private schools in Pasto, Colombia were invited to participate in a prevalence study using the translated questionnaire. Results A total of 373 children (95 private school, 278 public school), with mean age 9.9 years completed the QPGS-III. Twenty-nine percent of children were diagnosed with FGIDs. FGIDs were more common in females (OR, 1.63; 95% CI, 1.04-2.56). Functional constipation (14%) was the most common FGID. Irritable bowel syndrome was the most common abdominal pain-related FGID (5.4%). Abdominal migraine (1%) and cyclic vomiting syndrome (0.3%) were the least common FGIDs. Conclusion FGIDs are common in Colombian school children. © 2014 Mosby Inc. Source

Becker M.L.,Childrens Mercy Hospitals and Clinics
Clinical Pharmacology and Therapeutics | Year: 2012

Therapeutics used in pediatric rheumatology have evolved substantially over the past few decades; they currently target specific cytokines that are known to be involved in the pathophysiology of these complex diseases. The field is limited by a lack of full understanding of the etiology and pathophysiology of these conditions, as well as by the rarity of these diseases in the pediatric population. Advances in biomarkers, pharmacogenomics, and biologic therapies, along with a more unified effort from clinicians and investigators, have enabled continued growth in the field, fostering the hope for the most effective and appropriate therapeutics for pediatric patients. © 2012 American Society for Clinical Pharmacology and Therapeutics. Source

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