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1.
Nat Genet ; 2(4): 315-7, 1992 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-1303286

RESUMO

Autosomal recessive Duchenne-like muscular dystrophy (DLMD) is a severe dystrophic myopathy. The incidence is unknown because of its clinical similarity to Duchenne muscular dystrophy (DMD). Three highly inbred DLMD families from Tunisia were analysed for chromosomal linkage using 135 polymorphic microsatellite markers. A significant lod score of z = 9.15 at theta = 0.03 was found with the 13q12 locus D13S115. Two additional 13q12 markers, D13S143 and D13S120, also gave significant lod scores. Therefore, the primary DLMD defect gene lies in the pericentrometric region of chromosome 13q.


Assuntos
Cromossomos Humanos Par 13 , Ligação Genética , Distrofias Musculares/genética , Centrômero/ultraestrutura , Mapeamento Cromossômico , Cromossomos Humanos Par 13/ultraestrutura , Consanguinidade , DNA Satélite/genética , Feminino , Genes Recessivos , Marcadores Genéticos , Humanos , Masculino , Linhagem , Fenótipo , Polimorfismo Genético , Tunísia
2.
Tunis Med ; 79(5): 278-84, 2001 May.
Artigo em Francês | MEDLINE | ID: mdl-11515469

RESUMO

The Tunisian health system, notably in its health insurance component, has allowed to record a satisfactory evolution of health indicators. Nevertheless, socio-economic, demographic and epidemiological transitions impose a global reform of the system, notably of its financing. The present article, leaving from the presentation of the current system of coverage of the social security insured, analyses observed insufficiencies that have brought public authorities to commit the health insurance reform. The main observed insufficiencies refer to the multiplicity of regimes and their heterogeneity, generating iniquities between insured and a strong growth of care expenses financed directly by households. In addition, relationships of social security bodies with public and private providers of health care are little transparent, marked by a preferential processing of public structures, despite an important development of the private sector. In a second part, the author analyzes successively objectives of the health insurance reform of the social security regimes, its founder principles, characteristics of the proposed regime (a mandatory basic regime and an optional complementary regime) and sketches of providers payment methods.


Assuntos
Reforma dos Serviços de Saúde/organização & administração , Seguro Saúde , Programas Nacionais de Saúde/organização & administração , Financiamento Governamental/organização & administração , Previsões , Pesquisa sobre Serviços de Saúde , Indicadores Básicos de Saúde , Humanos , Seguro Saúde/economia , Seguro Saúde/normas , Seguro Saúde/estatística & dados numéricos , Seguro Saúde/tendências , Avaliação das Necessidades , Inovação Organizacional , Setor Privado , Setor Público , Previdência Social , Tunísia
3.
Hum Mol Genet ; 2(10): 1625-8, 1993 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-8268915

RESUMO

Autosomal recessive Charcot-Marie-Tooth (CMT) disease (CMT4) is a complex group of severe childhood motor and sensory neuropathies, characterized by an early age of onset with rapidly progressive distal limb weakness and atrophy. One subgroup designated CMT4 type A (CMT4A) was selected from a series of Tunisian CMT4 families according to the following electrophysiological and pathological criteria: slow motor nerve conduction velocity (MCV), severe hypomyelination upon nerve biopsy with basal lamina onion bulbs and no myelin outfolding. In an attempt to localize the CMT4A locus, we studied four inbred families with 13 affected patients. Significant evidence for linkage was found for several markers from chromosome 8q13-21.1 (D8S279, D8S164, D8S286, D8S84, D8S275 and D8S167). An overall two point peak lod score of z(theta) = 9.19 at theta = 0.00 (95% confidence limit 0.00-0.08) was obtained for D8S164. No evidence of genetic heterogeneity was found. The chromosomal localization of one form of CMT4 will have important implications in clarifying the nosology of this complex group of disorders.


Assuntos
Doença de Charcot-Marie-Tooth/genética , Cromossomos Humanos Par 8 , Genes Recessivos , Idade de Início , Doença de Charcot-Marie-Tooth/classificação , Doença de Charcot-Marie-Tooth/epidemiologia , Consanguinidade , Feminino , Ligação Genética , Humanos , Lactente , Masculino , Linhagem , Tunísia/epidemiologia
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