Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome.
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Biomedical subjects
Publications and source records attributed to S Hachicha.
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Otosclerosis is a hereditary disease frequently encountered in Caucasian populations (0.1 to 2% prevalence). In Tunisia, prevalence varies from 0.4% to 0.8%. The presence of a genetic factor associated with hormonal, biochemical or environmental factors, probably lead to variable expression of the otosclerosis according to age and sex. Mean age at onset of disease is 25 years (range 16-35 year) for 61.5% of affected women. In men this proportion is 50.2%. The incidence of otosclerosis is high in the 26-35 year age group. Our study showed that in northeastern areas of Tunisia, women in this age group were affected twice as often as men in this age group. This probably suggests that an endocrine mechanism is involved in disease etiology. However, in northwestern areas, there was no significant difference between the rates of otosclerosis between sexes. Geographical distribution of affected subjects according to the ethnic origin of their parents showed that the areas with the highest concentration of affected individuals were urban or seaside areas such as the gouvernorate of Nabeul. The frequency of otosclerosis was lower in rural areas and/or areas far from the seaside.
Geographically isolated populations have been successfully used to localize genes for recessive inherited diseases, including non-syndromic sensorineural recessive deafness (NSRD). To date, 25 loci for NSRD have been localized on human chromosomes (DFNB loci), and six of the corresponding genes have been identified. Here, we report on the contribution of the DFNB1 locus (GJB2 gene) to NRSD in seven affected families living in three northern Tunisian geographic isolates, and we provide evidence for genetic heterogeneity within isolates. This finding challenges the classical view of a single 'founder' mutation segregating in such isolates.
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We analyzed the cases of 1619 patients who underwent surgery for hydatidosis in a chest localization to present a review of this parasitosis, endemic in Southern Mediterranean countries. A lung localization was observed in 1527 patients (94.6%). Extrapulmonary localizations were less common (5.62%) and included 42 heart cysts, 21 primary pleural cysts, 13 diaphragm cysts, 8 mediastinum cysts and 8 ribs cysts. For pulmonary cysts the sex ratio was 1: 1 (51.46% men, 48.85% women). Mean age was 24 years. A context of hydatid exposure was present in 81.8% of cases. The diagnosis was established on the basis of associated functional signs and an opacity with regular borders on the chest x-ray. Surgical treatment was simple cystecomy in 85.9% of the cases and lung resection in 14. 1%. Operative mortality was 0.785%. Pleuropulmonary recurrence was observed in 21 patients. Thoracic and pulmonary hydatidosis is easily diagnosed and treatment is well defined. It remains however a major challenge for health care with an important social and economic impact. Prevention can only be achieved by carefully designed actions against parasite transmission.
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A 40 year old woman presented with a meningioma of the intratympanic region, a very rare localization which raises problems of differential diagnosis from jugular glomus tumors. A brief historical survey and complete etiopathogenic study are presented, and clinical features and results of complementary examinations, particularly angiography and computed tomography, are described. Treatment is exclusively surgical and diagnosis is confirmed with certitude by histopathology only.
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