3 research outputs found

    An international survey on the pragmatic management of epistaxis

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    Epistaxis is one of the most common ear, nose and throat emergencies. The management of epistaxis has evolved significantly in recent years, including the use of nasal cautery and packs. However, a correct treatment requires the knowledge of nasal anatomy, potential risks, and complications of treatment. Epistaxis is often a simple and readily treatable condition, even though a significant bleed may have potentially severe consequences. At present, there are very few guidelines concerning this topic. The current Survey explored the pragmatic approach in managing epistaxis. A questionnaire, including 7 practical questions has been used. The current International Survey on epistaxis management reported a relevant prevalence (21.7%), mainly during childhood and senescence, an important hospitalization rate (11.8%), the common use of anterior packing and electrocoagulation, and the popular prescription of a vitamin supplement and intranasal creams

    A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family

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    International audienceCongenital deafness is certainly one of the most common monogenic diseases in humans, but it is also one of the most genetically heterogeneous, which makes molecular diagnosis challenging in most cases. Whole-exome sequencing in two out of three Algerian siblings affected by recessively-inherited, moderate to severe sensorineural deafness allowed us to identify a novel splice donor site mutation (c.5272+1G>A) in the gene encoding α-tectorin, a major component of the cochlear tectorial membrane. The mutation was present at the homozygous state in the three affected siblings, and at the heterozygous state in their unaffected, consanguineous parents. To our knowledge, this is the first reported TECTA mutation leading to the DFNB21 form of hearing impairment among Maghrebian individuals suffering from congenital hearing impairment, which further illustrates the diversity of the genes involved in congenital deafness in the Maghreb
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