Herminio Pérez-Garrigues

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Mutations in USH2A gene have been shown to be responsible for Usher syndrome type II, an autosomal recessive disorder characterised by hearing loss and retinitis pigmentosa. USH2A was firstly described as consisting of 21 exons, but 52 novel exons at the 3' end of the gene were recently identified. In this report, a mutation analysis of the new 52 exons of(More)
Usher syndrome type I is the most severe form of Usher syndrome. It is an autosomal recessive disorder characterized by profound congenital sensorineural deafness, retinitis pigmentosa, and vestibular abnormalities. Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B (USH1B). This gene is thought to bear greatest(More)
The osteotome method is an often-used technique of great utility in certain patients with maxillary bone atrophy. However, it has been associated with the provocation of benign paroxysmal positional vertigo (BPPV), which has been described as a consequence of working the implant bed with osteotomes. During the placement of maxillary dental implants using(More)
The most common mutation in the USH2A gene (Usherin), 2299delG, causes both typical Usher (USH) syndrome type II and atypical USH syndrome, two autosomal recessive disorders, characterised by moderate to severe sensorineural hearing loss and retinitis pigmentosa (RP). Furthermore, the C759F mutation in the USH2A gene has been described in 4.5% of patients(More)
Charcot-Marie-Tooth disease type 4C (CMT4C) is a hereditary neuropathy with prominent unsteadiness. The objective of the current study is to determine whether the imbalance in CMT4C is caused only by reduced proprioceptive input or if vestibular nerve involvement is an additional factor. We selected 10 CMT4C patients and 10 age-matched and sex-matched(More)
OBJECTIVES To investigate the level of hearing loss and the configuration of the mean audiometric curve over the course of Menière's disease, correcting the data according to patient age. STUDY DESIGN A retrospective study of 3,963 hearing tests. METHODS Descriptive, longitudinal study of pure-tone audiometries of 237 patients at a tertiary hospital who(More)
BACKGROUND Autoimmunity appears to be associated with the pathophysiology of Meniere's disease (MD), an inner ear disorder characterized by episodes of vertigo associated with hearing loss and tinnitus. However, the prevalence of autoimmune diseases (AD) in patients with MD has not been studied in individuals with uni or bilateral sensorineural hearing loss(More)
HYPOTHESIS Immune response may influence hearing outcome in Ménière's disease (MD). BACKGROUND Major histocompatibility complex class I chain-related A (MICA) encodes a highly polymorphic stress-inducible protein, which interacts with NKGD2 receptor on the surface of NK, γδ T cells and T CD8 lymphocytes. We investigated the association of MICA gene with(More)
OBJECTIVE To analyze the associations of HLA-DRB1* and DQB1* Class II alleles in patients with bilateral Méniére's disease (MD). PATIENTS AND METHODS Eighty patients from two ethnically defined groups with definite bilateral MD, according to the diagnostic scale of the American Academy of Otolaryngology-Head and Neck Surgery, were compared with normal(More)