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3.
Clin Genet ; 89(3): 312-9, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26010040

RESUMO

Genetic diseases in the Tunisian population represent a real problem of public health as their spectrum encompasses more than 400 disorders. Their frequency and distribution in the country have been influenced by demographic, economic and social features especially consanguinity. In this article, we report on genetic disease association referred to as comorbidity and discuss factors influencing their expressivity. Seventy-five disease associations have been reported among Tunisian families. This comorbidity could be individual or familial. In 39 comorbid associations, consanguinity was noted. Twenty-one founder and 11 private mutations are the cause of 34 primary diseases and 13 of associated diseases. As the information dealing with this phenomenon is fragmented, we proposed to centralize it in this report in order to draw both clinicians' and researcher's attention on the occurrence of such disease associations in inbred populations as it makes genetic counseling and prenatal diagnosis challenging even when mutations are known.


Assuntos
Consanguinidade , Doenças Genéticas Inatas/epidemiologia , Comorbidade , Feminino , Efeito Fundador , Doenças Genéticas Inatas/genética , Humanos , Masculino , Linhagem , Tunísia/epidemiologia
6.
Artigo em Inglês | MEDLINE | ID: mdl-21432695

RESUMO

This work displayed the force capabilities of the musculoskeletal system of the forefinger under external loading. Different states of normal and pathological fingers are studied. We evaluated the impact of losing musculo-tendon unit strength capacities in terms of maximal output fingertip force and tendon tensions distribution. A biomechanical model for a static force analysis is developed through anatomical and kinematic studies. An optimisation approach is then used to determine tendon tension distribution when performing an isometric task. Furthermore, pathological fingers with common cases of injured flexors and extensors are analysed. The method of simulation for forefinger abnormities is described. Furthermore, the simulation results are interpreted.


Assuntos
Dedos/fisiologia , Modelos Biológicos , Tendões/fisiologia , Fenômenos Biomecânicos , Dedos/anatomia & histologia , Humanos , Contração Isométrica/fisiologia , Força Muscular/fisiologia , Tendões/anatomia & histologia
7.
Int J Neural Syst ; 12(2): 149-57, 2002 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-12035128

RESUMO

Clustering is an important research area that has practical applications in many fields. Fuzzy clustering has shown advantages over crisp and probabilistic clustering, especially when there are significant overlaps between clusters. Most analytic fuzzy clustering approaches are derived from Bezdek's fuzzy c-means algorithm. One major factor that influences the determination of appropriate clusters in these approaches is an exponent parameter, called the fuzzifier. To our knowledge, no theoretical reason leading to an optimal setting of this parameter is available. This paper presents the development of an heuristic scheme for determining the fuzzifier. This scheme creates close interactions between the fuzzifier and the data set to be clustered. Experimental results in clustering IRIS data and in code book design required for image compression reveal a good performance of our proposal.


Assuntos
Análise por Conglomerados , Lógica Fuzzy , Processamento de Imagem Assistida por Computador/estatística & dados numéricos , Redes Neurais de Computação , Algoritmos , Interpretação Estatística de Dados
8.
Ann Pediatr (Paris) ; 38(5): 345-9, 1991 May.
Artigo em Francês | MEDLINE | ID: mdl-1872530

RESUMO

Recurrent multifocal periostosis of childhood is an infrequent disease. All cases reported to date have been sporadic. A familial form affecting three siblings is reported herein. Clinical and biologic features were similar to those described in the previously reported cases. This case is of particular interest for two reasons: 1) the pattern of familial clustering suggests autosomal recessive transmission; 2) repeated CT scans were performed in these patients (but not in previously reported cases) and demonstrated early involvement of the three bone layers, suggesting panostosis rather than periostosis.


Assuntos
Periósteo , Doenças Ósseas/diagnóstico , Doenças Ósseas/genética , Doenças Ósseas/patologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Recidiva
9.
J Biomech ; 23(12): 1277-84, 1990.
Artigo em Inglês | MEDLINE | ID: mdl-2292609

RESUMO

The scaphoid is the most frequently fractured of the carpal bones [Taleisnik, J., The Wrist, Churchill Livingstone, New York (1985)]. This project was undertaken to qualitatively evaluate the strain in the scaphoid during wrist motion using a newly developed strain gage method. Strain gage rosettes were mounted within the scaphoid and the range of motion of the hand was monitored using a custom designed electrogoniometer and data acquisition system. Ten specimens were utilized for this study. Results indicated that supination/pronation (S/P) of the forearm did not affect the strain in the scaphoid. A map of the strain in the waist of the scaphoid, as a function of flexion/extension (F/E) and radial/ulnar deviation (R/U), was generated. The contour plot of scaphoid strain vs range of motion (ROM) shows a valley where strains are low. Minimum scaphoid strain was found near neutral F/E and 15 degrees of ulnar deviation.


Assuntos
Ossos do Carpo/fisiologia , Movimento/fisiologia , Articulação do Punho/fisiologia , Adulto , Fenômenos Biomecânicos , Feminino , Humanos , Técnicas In Vitro , Masculino , Pessoa de Meia-Idade , Monitorização Fisiológica , Amplitude de Movimento Articular/fisiologia , Estresse Mecânico
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