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1.
Acta Paediatr ; 99(1): 13-8, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19832739

RESUMO

BACKGROUND: Changes in the scope of the field of paediatrics and the variability in primary paediatric care (PPC) and practice throughout Europe motivated the European Paediatric Association and Union of National European Paediatric Societies and Associations (EPA/UNEPSA) to establish a working group to discuss definitions of paediatric coverage in terms of age limits, find common denominators in the provision of PPC and examine the challenges and goals of 21st century paediatrics relevant to the continent. These issues were presented at the 2008 Europaediatrics in Istanbul, where a consensus declaration was drawn up and accepted by the EPA/UNEPSA Executive Committee. AIM: To present an outline of the essential elements of the 2008 EPA/UNEPSA Executive Committee consensus declaration. CONCLUSION: The definition of basic characteristics and the establishment of requirements for optimal PPC and practice are important steps in overcoming the differences among European countries and pave the way for an acceptable formulation of standardized high-quality paediatric medical care in Europe.


Assuntos
Pediatria/normas , Atenção Primária à Saúde/normas , Adolescente , Criança , Continuidade da Assistência ao Paciente , Europa (Continente) , Humanos , Lactente , Programas Nacionais de Saúde/organização & administração , Pediatria/educação , Pediatria/tendências , Papel do Médico , Atenção Primária à Saúde/tendências , Adulto Jovem
2.
Clin Genet ; 31(3): 119-24, 1987 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-3568436

RESUMO

A four-month-old girl with facial dysmorphism, moderate mental retardation, immune deficiency (decreased IgG and IgA and absence of IgM), centromeric instability of chromosomes 1, 9, 16 and very rarely of chromosome 2, and disposition to formation of multibranched chromosomal figures, is described. The case is the fifth described with such chromosomal and immune abnormalities, which prove the existence of a new syndrome. The authors suggest an autosomal recessive inheritance.


Assuntos
Centrômero , Aberrações Cromossômicas/genética , Cromossomos Humanos Par 16 , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 9 , Cromossomos , Síndromes de Imunodeficiência/genética , Anormalidades Múltiplas/genética , Bandeamento Cromossômico , Transtornos Cromossômicos , Feminino , Humanos , Lactente
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