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1.
Mol Genet Metab ; 115(4): 151-6, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26138304

RESUMO

Phenylketonuria (PKU) results in an accumulation of phenylalanine (phe) in the blood which can lead to multiple health consequences in affected individuals. Treatment for PKU is available; however adherence to medical management recommendations can be difficult. When recommendations are not followed and the health of a child is at risk, one intervention that may be necessary is a referral for medical neglect to the local child protective services (CPS) agency. This study summarizes the cases that were referred from our metabolic clinic at the Children's Hospital of Michigan to CPS, and the outcomes of that intervention. CPS referrals helped to improve adherence to medical management recommendations in the majority of cases, including a lower blood phe level for the child; however, at times that improvement did not occur until after a second referral and/or the child's temporary removal from the home.


Assuntos
Maus-Tratos Infantis , Serviços de Proteção Infantil , Fenilcetonúrias/sangue , Encaminhamento e Consulta , Criança , Pré-Escolar , Humanos , Lactente , Fenilalanina/sangue
2.
Prev Chronic Dis ; 9: E176, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23256909

RESUMO

INTRODUCTION: Comprehensive Cancer Control (CCC) plans address cancer burden at the state level through consolidation of activities and collaboration among stakeholders. Public health genomics strategies are increasingly important in prevention and treatment of cancer. The objectives of this study were to assess the extent to which CCC plans have incorporated genomics-related terms since 2005, determine which of the 3 core public health functions were fulfilled by genomics components, and identify facilitators of and barriers to integration of genomics. METHODS: We reviewed 50 CCC plans in 2010 to assess use of 22 genomics-related terms. Among plans that used the term genetics or genomics, we examined the plan for inclusion of genomics-related goals, objectives, or strategies and documented the 3 core public health functions (assessment, policy development, and assurance) fulfilled by them. We surveyed plan coordinators about factors affecting incorporation of genomic strategies into plans. RESULTS: Forty-seven of 50 (94%) plans included at least 1 genomics-related term. Thirty-two of 50 (64%) plans included at least 1 genomics-related goal, objective, or strategy, most encompassing the core function of assurance; 6 state plans encompassed all 3 core functions. Plan coordinators indicated that genomics is a low priority in state public health; barriers to incorporation included lack of sufficient staff and funding. CONCLUSION: Incorporation of genomic terms into state CCC plans increased from 60% in 2005 to 94% in 2010, but according to plan coordinators, genomics has not grown as a priority. Identification of partnerships and resources may help increase the priority, encourage incorporation, and guide the eventual success of public health genomics in state plans. Strong partnerships with state public health departments, health care providers, and the research community are useful for integration.


Assuntos
Genômica , Neoplasias/prevenção & controle , Avaliação de Programas e Projetos de Saúde , Planos Governamentais de Saúde , Centers for Disease Control and Prevention, U.S. , Humanos , Planos Governamentais de Saúde/organização & administração , Estados Unidos
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