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1.
Tunis Med ; 88(10): 690-5, 2010 Oct.
Artículo en Francés | MEDLINE | ID: mdl-20890812

RESUMEN

BACKGROUND: Allergic rhinitis is a daily problem to which are confronted principally general practitioner, paediatrician, ear, nose and throat specialist and allergologist. also, this subject is still always alive because allergy seems in a constant progression in our society. AIM: To clarify diagnostic and therapeutic criteria of this affection. METHODS: we have realized a literature review concerning physiopathology, clinical symptoms, the position of paraclinical investigations and finally therapeutic modality of allergic rhinitis. RESULTS: Appropriated treatment of allergic rhinitis should be général it requires a knowledge and better comprehension of the disease and optimum prevention, if it is possible, of allergic symptoms.


Asunto(s)
Rinitis Alérgica Perenne/terapia , Rinitis Alérgica Estacional/terapia , Humanos , Rinitis Alérgica Perenne/diagnóstico , Rinitis Alérgica Perenne/fisiopatología , Rinitis Alérgica Estacional/diagnóstico , Rinitis Alérgica Estacional/fisiopatología
2.
Hum Genet ; 123(3): 267-72, 2008 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-18224337

RESUMEN

Otosclerosis is a common disorder of the otic capsule resulting in hearing impairment in 0.3-0.4% of the Caucasian population. The aetiology of the disease remains unclear. In most cases, otosclerosis can be considered as a complex disease. In some cases, the disease is inherited as an autosomal dominant trait, sometimes with reduced penetrance. To date, seven autosomal dominant loci have been reported, but none of the disease-causing genes has been identified. In this study, we present the results of a genome-wide linkage analysis in a large Tunisian family segregating autosomal dominant otosclerosis. Linkage analysis localised the responsible gene to chromosome 9p13.1-9q21.11 with a maximal LOD score of 4.13, and this locus was named OTSC8. Using newly generated short tandem repeat polymorphism markers, we mapped this new otosclerosis locus to a 34.16 Mb interval between the markers D9S970 and D9S1799. This region comprises the pericentromeric region on both arms of chromosome 9, a highly complex region containing many duplicated sequences.


Asunto(s)
Centrómero/genética , Cromosomas Humanos Par 9/genética , Ligamiento Genético/genética , Otosclerosis/genética , Adolescente , Adulto , Anciano , Mapeo Cromosómico , Femenino , Genes Dominantes , Marcadores Genéticos , Genotipo , Haplotipos , Humanos , Escala de Lod , Masculino , Persona de Mediana Edad , Otosclerosis/epidemiología , Linaje , Polimorfismo Genético , Secuencias Repetidas en Tándem
4.
Am J Med Genet A ; 143A(14): 1653-60, 2007 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-17568407

RESUMEN

Otosclerosis is caused by an abnormal bone homeostasis of the otic capsule resulting in a conductive hearing loss when the free motion of the stapes is compromised. An additional sensorineural hearing loss arises in some patients, most likely due to otosclerotic foci that invade the cochlear endosteum. Otosclerosis is a very common hearing impairment among Caucasians with a prevalence of about 0.3-0.4% among white adults. In the majority of cases, otosclerosis can be considered as a complex disease, caused by both genetic as environmental factors, but autosomal dominant forms of otosclerosis exist. However, families large enough for genetic analysis are very rare and often show reduced penetrance. To date five loci have been reported, but none of the genes have been cloned yet. In this study, we analyzed two new autosomal dominant otosclerosis families from Tunisia, and genotyped them with microsatellite markers for the known loci, the collagen genes COL1A1 and COL1A2, and NOG gene. In the family LK, linkage to all known loci was excluded. However, the family LS shows suggestive linkage to the OTSC3 region on chromosome 6p21.3-p22.3. This result points out that, besides the five reported loci, there must be at least one additional locus for autosomal dominant otosclerosis.


Asunto(s)
Predisposición Genética a la Enfermedad/genética , Otosclerosis/genética , Otosclerosis/patología , Adolescente , Adulto , Anciano , Proteínas Portadoras/genética , Mapeo Cromosómico , Cromosomas Humanos Par 6/genética , Colágeno/genética , Colágeno Tipo I/genética , Cadena alfa 1 del Colágeno Tipo I , Análisis Mutacional de ADN , Salud de la Familia , Femenino , Genotipo , Humanos , Escala de Lod , Masculino , Repeticiones de Microsatélite , Persona de Mediana Edad , Linaje , Túnez
5.
Tunis Med ; 85(1): 61-3, 2007 Jan.
Artículo en Francés | MEDLINE | ID: mdl-17424712

RESUMEN

BACKGROUND: Acute mastoiditis with ostertis is secondary to bacteria involving mastoid cavities AIM: Describe the epidemiologic aspects MATERIAL AND METHODS: Between 1990 and 2003, we listed 44 files of children hospitalized for acute mastoiditis. The treatment was in any case medical associated to a surgical treatment in 30 cases. RESULTS: The age of our patients was consisted between 2 months and 14 years with an average is 2 years. The sex ratio of patient was 1,1. 29 patients didn't have any antecedents particular O.R.L, 8 patients were followed for otitis middle chronic and 7 had an cholestéatomateuse. The auricular old-fashioned swelling was the most frequent functional sign. A scanner has been achieved in 13 cases. The treatment was médico-surgical in 30 cases is 68,8% and an only antibiothérapie in 14 cases is 31,8%.


Asunto(s)
Mastoiditis/epidemiología , Otitis Media/complicaciones , Enfermedad Aguda , Adolescente , Factores de Edad , Antibacterianos/uso terapéutico , Niño , Preescolar , Femenino , Hospitalización , Humanos , Lactante , Masculino , Mastoiditis/complicaciones , Mastoiditis/diagnóstico , Mastoiditis/tratamiento farmacológico , Mastoiditis/cirugía , Estudios Retrospectivos , Factores Sexuales
6.
Tunis Med ; 85(8): 684-7, 2007 Aug.
Artículo en Francés | MEDLINE | ID: mdl-18254292

RESUMEN

BACKGROUND: The odontogenic maxillary sinusitis is the consequence of the distribution of an inflammatory or infectious process of a tooth in sinuses mucous membranes. AIM: The purpose of our work is to study epidemiological profile, clinical and radiological characteristics allowing the diagnosis of this pathology as well as the various therapeutic strategies adopted. METHODS: We report a retrospective study of 31 observations of odontogenic maxillary sinusitis brought together in the service of ORL and of CMF of Rabta hospital over a period of 12 years. RESULTS: In our series, the frequency of this pathology was considered at 42.5% among the group of all maxillary sinusitis brought together during the same period, the average age was of 38 years with a sex ratio of 1.04. The dental antecedents are obvious in 80% of cases, the iatrogenic was found in 64% of cases. Dental causes were dominated buy para-apical cysts (29%), and the movement of the dough canalaire (23%) especially in fongic forms of sinusitis.


Asunto(s)
Sinusitis Maxilar/etiología , Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Sinusitis Maxilar/epidemiología , Persona de Mediana Edad , Enfermedades de la Boca/complicaciones , Complicaciones Posoperatorias/etiología , Estudios Retrospectivos , Enfermedades Estomatognáticas/complicaciones
7.
Tunis Med ; 84(12): 803-4, 2006 Dec.
Artículo en Francés | MEDLINE | ID: mdl-17288285

RESUMEN

Dyslexia is a reading problem disorder. It can be a direct result of epilepsia for some kids. The researchers have done the study on 30 school kids that suffer from epilepsia. All the children had Audiometry which was normal in all cases. The orthophonic exam has done in all cases, founding a prononciation and speaker disorder also there is disorder at the psychometric test The purpose of the study research is to define the different profiles of dyslexia on the epileptics, then to check the importance of collaboration between Otorhinolaryngologists, Neurologists and Orthophonists to take care of the epileptic kids having dyslexia.


Asunto(s)
Dislexia/complicaciones , Dislexia/diagnóstico , Epilepsia/complicaciones , Adolescente , Niño , Femenino , Humanos , Masculino
8.
Clin Dysmorphol ; 14(1): 23-25, 2005 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-15602089

RESUMEN

Cleft palate with ankyloglossia (CPX; OMIM 303400) is inherited as a Mendelian semidominant X-Linked disorder. Linkage studies resulted in mapping CPX to Xq13-q 21-31 region. TBX22 was identified as causing CPX. We report a new mutation in a Tunisian family and the first Arab family with X-Linked cleft palate and ankyloglossia. The family includes 6 affected members, 4 males and 2 females. Linkage study was performed using 9 microsatellite markers surrounding the CPX locus with a maximum lod score 1.81 at theta=0 with several markers. Sequence analysis of TBX22 gene revealed a novel change c.358C>T in exon 3 (R120W) located in the T-BOX domain; this change was present in all affected members and none of the 100 controls. A second modification in exon 4 (c.559G>A) predicted to result in a nonconservative substitution (E187 K) was present in the affected members but also in 2 controls, suggesting a polymorphism which functional role cannot be excluded without further study.


Asunto(s)
Fisura del Paladar/genética , Familia , Mutación , Proteínas de Dominio T Box/genética , Femenino , Humanos , Masculino , Linaje , Túnez
9.
Genet Epidemiol ; 27(1): 74-9, 2004 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-15185405

RESUMEN

Deafness is an important health problem in the Tunisian population, especially in isolates where the prevalence ranges from 2 to 8%. To evaluate the effect of inbred unions on deafness, a study was conducted on 5,020 individuals (160 are deaf) between 2000 and 2002 in the North of Tunisia. The coefficient of inbreeding for all individuals and the levels of inbreeding in ten districts were computed. The higher levels were obtained in the rural districts. Our study revealed that geographic isolation, social traditions, and parental involvement in mode selection all contribute to increase consanguinity in these regions. The mean inbreeding seems to be similar to those estimated in highly inbred isolates in the world. The relative risk of the 35delG mutation, the single most frequent allele for non-syndromic recessive deafness in Tunisia, was estimated from the observed inbreeding coefficient and found to be 10.76 (SD 7.74) for first-cousin marriages, which are the most common form of consanguineous marriage encountered. Our knowledge of the risk rate of deafness and our understanding of consanguinity is required for the prevention of genetic deafness in the Tunisian population.


Asunto(s)
Consanguinidad , Sordera/epidemiología , Sordera/genética , Predisposición Genética a la Enfermedad/epidemiología , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Predisposición Genética a la Enfermedad/genética , Geografía , Pruebas Auditivas , Humanos , Masculino , Matrimonio/etnología , Modelos Genéticos , Mutación/genética , Núcleo Familiar/etnología , Riesgo , Salud Rural , Aislamiento Social , Túnez/epidemiología
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