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1.
Rev Environ Health ; 19(2): 141-59, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15329009

RESUMO

Population and individual health is linked to agroecosystem health. To comprehend the concept of agroecosystem health, one should climb a ladder consisting of several successive steps, each rung presenting a certain degree of instability (conceptual difficulty and uncertainty) in an advisable but not inevitable order. Here we suggest a ladder consisting of the following concepts: ecosystem, agroecosystem, biodiversity, sustainability, ecosystem health, and agroecosystem health. Although these concepts are to a certain extent well understood and grasped by scientists, politicians, natural resource managers, and environmentalists, some steps are still highly debatable, unclear, and present a considerable degree of reluctance to be defined and understood. Consequently, much empirical and theoretical effort must be made to construct solid conceptual ladders made up of such steps. In this enterprise, a traditional reductionistic approach confining interpretations to narrow scientific disciplines is unadvisable. Holistic, transdisciplinary approaches are required to reach the desired goal.


Assuntos
Agricultura , Biodiversidade , Ecossistema , Saúde Ambiental , Humanos , Solo , Abastecimento de Água
2.
An Esp Pediatr ; 16(4): 346-51, 1982 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-7125394

RESUMO

We present a case of a child with important phenotypic abnormalities (retinoblastoma, hypoplasia of the thumbs and genital), as well as craneofacial and evident psychomotor retardation. The chromosomal study showed a interstitial delection of the long arms of a chromosome from D group. We try to correlate karyotypes and phenotype, telling about difficulties that this relation means insisting about the importance of knowing more cases of chromosome 13 delection. We also think that subbands analysis represents an important factor in this correlation.


Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas/genética , Deleção Cromossômica , Cromossomos Humanos 13-15/ultraestrutura , Aberrações Cromossômicas/patologia , Transtornos Cromossômicos , Neoplasias Oculares/genética , Humanos , Lactente , Deficiência Intelectual/genética , Masculino , Retinoblastoma/genética , Polegar/anormalidades
3.
J Med Genet ; 35(5): 387-90, 1998 May.
Artigo em Inglês | MEDLINE | ID: mdl-9610801

RESUMO

Retinitis pigmentosa (RP) is a degenerative disorder affecting the outer segment of the retina and leading to night blindness and progressive visual field loss. The rhodopsin gene encodes a photolabile pigment located in the rod outer segments constituting around 80-90% of its protein content and is the initiation point for the visual cascade upon absorption of a single photon. Seventy-five unrelated, isolated RP families in the Basque Country, with at least one affected member, were diagnosed at our hospital after ophthalmic examination and electroretinogram analysis. The patients received genetic counselling according to their individual case based on their clinical diagnosis. The modes of inheritance found from pedigree studies were the following: 20% (15/75) were classified as autosomal dominant retinitis pigmentosa (ADRP), 17.33% (13/75) were autosomal recessive (ARRP), 2.66% (2/75) were unclassified (NC), and 60% (45/75) were sporadic cases (SCRP). From these families, 75 unrelated and affected index cases together with 22 affected relatives and 42 unaffected relatives were screened for mutations in the rhodopsin gene by GC clamped denaturing gradient gel electrophoresis. Our results showed that five ADRP, three ARRP, 15 SCRP, and one NC families had alterations in this gene. Only three of these alterations, that is 4% (3/75) (95% CL 0-8), appeared to be responsible for the disease. This represents a lower percentage than the 10% previously reported.


Assuntos
Retinose Pigmentar/genética , Rodopsina/genética , Eletroforese em Gel de Poliacrilamida , Feminino , Humanos , Masculino , Mutação , Linhagem , Polimorfismo Genético , Retinose Pigmentar/metabolismo , Espanha
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