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Hearing Disorders: HELP
Articles by Sofía Santos-Perez
Based on 5 articles published since 2009
(Why 5 articles?)
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Between 2009 and 2019, S. Santos-Perez wrote the following 5 articles about Hearing Disorders.
 
+ Citations + Abstracts
1 Article Extended phenotype and clinical subgroups in unilateral Meniere disease: A cross-sectional study with cluster analysis. 2017

Frejo, L / Martin-Sanz, E / Teggi, R / Trinidad, G / Soto-Varela, A / Santos-Perez, S / Manrique, R / Perez, N / Aran, I / Almeida-Branco, M S / Batuecas-Caletrio, A / Fraile, J / Espinosa-Sanchez, J M / Perez-Guillen, V / Perez-Garrigues, H / Oliva-Dominguez, M / Aleman, O / Benitez, J / Perez, P / Lopez-Escamez, J A / Anonymous8990895. ·Otology & Neurotology Group CTS495, Department of Genomic Medicine- Centro de Genómica e Investigación Oncológica - Pfizer/Universidad de Granada/Junta de Andalucía (GENYO), Granada, Spain. · Department of Otolaryngology, Hospital Universitario de Getafe, Getafe, Spain. · Department of Otolaryngology, San Raffaelle Scientific Institute, Milan, Italy. · Division of Otoneurology, Department of Otorhinolaryngology, Complejo Hospitalario Universitario de Badajoz, Badajoz, Spain. · Division of Otoneurology, Department of Otorhinolaryngology, Complexo Hospitalario Universitario, Santiago de Compostela, Spain. · Department of Otolaryngology, Clinica Universidad de Navarra, Pamplona, Spain. · Department of Otolaryngology, Complexo Hospitalario de Pontevedra, Pontevedra, Spain. · Department of Otolaryngology, Hospital de Poniente, El Ejido, Almería, Spain. · Department of Otolaryngology, Hospital Universitario Salamanca, Salamanca, Spain. · Department of Otolaryngology, Hospital Miguel Servet, Zaragoza, Spain. · Department of Otorhinolaryngology, Hospital San Agustin, Linares, Jaen, Spain. · Department of Otorhinolaryngology, Hospital Universitario La Fe, Valencia, Spain. · Department of Otorhinolaryngology, Hospital Costa del Sol, Marbella, Malaga, Spain. · Department of Otolaryngology, Hospital General Universitario de Alicante, Alicante, Spain. · Department of Otolaryngology, Hospital Universitario de Gran Canaria Dr Negrin, Las Palmas, Spain. · Department of Otorhinolaryngology, Hospital Universitario de Cabueñes, Gijon, Spain. · Department of Otolaryngology, Instituto de Investigación Biosanitaria ibs.GRANADA, Complejo Hospitalario Universidad de Granada (CHUGRA), Granada, Spain. ·Clin Otolaryngol · Pubmed #28166395.

ABSTRACT: OBJECTIVES: To define clinical subgroups by cluster analysis in patients with unilateral Meniere disease (MD) and to compare them with the clinical subgroups found in bilateral MD. DESIGN: A cross-sectional study with a two-step cluster analysis. SETTINGS: A tertiary referral multicenter study. PARTICIPANTS: Nine hundred and eighty-eight adult patients with unilateral MD. MAIN OUTCOME MEASURES: best predictors to define clinical subgroups with potential different aetiologies. RESULTS: We established five clusters in unilateral MD. Group 1 is the most frequently found, includes 53% of patients, and it is defined as the sporadic, classic MD without migraine and without autoimmune disorder (AD). Group 2 is found in 8% of patients, and it is defined by hearing loss, which antedates the vertigo episodes by months or years (delayed MD), without migraine or AD in most of cases. Group 3 involves 13% of patients, and it is considered familial MD, while group 4, which includes 15% of patients, is linked to the presence of migraine in all cases. Group 5 is found in 11% of patients and is defined by a comorbid AD. We found significant differences in the distribution of AD in clusters 3, 4 and 5 between patients with uni- and bilateral MD. CONCLUSIONS: Cluster analysis defines clinical subgroups in MD, and it extends the phenotype beyond audiovestibular symptoms. This classification will help to improve the phenotyping in MD and facilitate the selection of patients for randomised clinical trials.

2 Article A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere's disease. 2016

Martín-Sierra, Carmen / Requena, Teresa / Frejo, Lidia / Price, Steven D / Gallego-Martinez, Alvaro / Batuecas-Caletrio, Angel / Santos-Pérez, Sofía / Soto-Varela, Andrés / Lysakowski, Anna / Lopez-Escamez, Jose A. ·Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer/University of Granada/Junta de Andalucía, PTS, Granada 18016, Spain. · Dept. of Anatomy and Cell Biology, Univ. of Illinois at Chicago, Chicago, IL 60612, USA. · Department of Otolaryngology, Hospital Universitario Salamanca 37007, Spain. · Division of Otoneurology, Department of Otorhinolaryngology, Complexo Hospitalario Universitario, Santiago de Compostela 15706, Spain. · Dept. of Otolaryngology-Head and Neck Surgery, Univ. of Illinois at Chicago, Chicago IL 60612, USA. · Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer/University of Granada/Junta de Andalucía, PTS, Granada 18016, Spain antonio.lopezescamez@genyo.es. · Department of Otolaryngology, Instituto de Investigación Biosanitaria ibs.GRANADA, Complejo Hospitalario Universidad de Granada (CHUGRA) Granada 18016, Spain. ·Hum Mol Genet · Pubmed #27329761.

ABSTRACT: Meniere's Disease (MD) is a complex disorder associated with an accumulation of endolymph in the membranous labyrinth in the inner ear. It is characterized by recurrent attacks of spontaneous vertigo associated with sensorineural hearing loss (SNHL) and tinnitus. The SNHL usually starts at low and medium frequencies with a variable progression to high frequencies. We identified a novel missense variant in the PRKCB gene in a Spanish family with MD segregating low-to-middle frequency SNHL. Confocal imaging showed strong PKCB II protein labelling in non-sensory cells, the tectal cells and inner border cells of the rat organ of Corti with a tonotopic expression gradient. The PKCB II signal was more pronounced in the apical turn of the cochlea when compared with the middle and basal turns. It was also much higher in cochlear tissue than in vestibular tissue. Taken together, our findings identify PRKCB gene as a novel candidate gene for familial MD and its expression gradient in supporting cells of the organ of Corti deserves attention, given the role of supporting cells in K

3 Article Intronic variants in the NFKB1 gene may influence hearing forecast in patients with unilateral sensorineural hearing loss in Meniere's disease. 2014

Cabrera, Sonia / Sanchez, Elena / Requena, Teresa / Martinez-Bueno, Manuel / Benitez, Jesus / Perez, Nicolas / Trinidad, Gabriel / Soto-Varela, Andrés / Santos-Perez, Sofía / Martin-Sanz, Eduardo / Fraile, Jesus / Perez, Paz / Alarcon-Riquelme, Marta E / Batuecas, Angel / Espinosa-Sanchez, Juan M / Aran, Ismael / Lopez-Escamez, Jose A. ·Otology & Neurotology Group CTS495, Department of Genomic Medicine- Centro de Genómica e Investigación Oncológica - Pfizer/Universidad de Granada/Junta de Andalucía (GENYO), Granada, Spain. · Department of Neurology, Icahn School of Medicine at Mount Sinai, New York City, New York, United States of America. · Group of Genetics of Complex Diseases, Department of Genomic Medicine - Centro de Genómica e Investigación Oncológica - Pfizer/Universidad de Granada/Junta de Andalucía (GENYO), Granada, Spain. · Department of Otolaryngology, Hospital Universitario de Gran Canaria Dr Negrin, Las Palmas, Spain. · Department of Otolaryngology, Clinica Universidad de Navarra, Pamplona, Spain. · Division of Otoneurology, Department of Otorhinolaryngology, Complejo Hospitalario Badajoz, Badajoz, Spain. · Division of Otoneurology, Department of Otorhinolaryngology, Complexo Hospitalario Universitario, Santiago de Compostela, Spain. · Department of Otolaryngology, Hospital Universitario de Getafe, Getafe, Spain. · Department of Otolaryngology, Hospital Miguel Servet, Zaragoza, Spain. · Department of Otorhinolaryngology, Hospital Cabueñes, Gijón, Spain. · Department of Otolaryngology, Hospital Universitario Salamanca, Salamanca, Spain. · Otology & Neurotology Group CTS495, Department of Genomic Medicine- Centro de Genómica e Investigación Oncológica - Pfizer/Universidad de Granada/Junta de Andalucía (GENYO), Granada, Spain; Department of Otorhinolaryngology, Hospital San Agustin, Linares, Jaen, Spain. · Department of Otolaryngology, Complexo Hospitalario de Pontevedra, Pontevedra, Spain. · Otology & Neurotology Group CTS495, Department of Genomic Medicine- Centro de Genómica e Investigación Oncológica - Pfizer/Universidad de Granada/Junta de Andalucía (GENYO), Granada, Spain; Department of Otolaryngology, Hospital de Poniente, El Ejido, Almería, Spain. ·PLoS One · Pubmed #25397881.

ABSTRACT: Meniere's disease is an episodic vestibular syndrome associated with sensorineural hearing loss (SNHL) and tinnitus. Patients with MD have an elevated prevalence of several autoimmune diseases (rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis and psoriasis), which suggests a shared autoimmune background. Functional variants of several genes involved in the NF-κB pathway, such as REL, TNFAIP3, NFKB1 and TNIP1, have been associated with two or more immune-mediated diseases and allelic variations in the TLR10 gene may influence bilateral affectation and clinical course in MD. We have genotyped 716 cases of MD and 1628 controls by using the ImmunoChip, a high-density genotyping array containing 186 autoimmune loci, to explore the association of immune system related-loci with sporadic MD. Although no single nucleotide polymorphism (SNP) reached a genome-wide significant association (p<10(-8)), we selected allelic variants in the NF-kB pathway for further analyses to evaluate the impact of these SNPs in the clinical outcome of MD in our cohort. None of the selected SNPs increased susceptibility for MD in patients with uni or bilateral SNHL. However, two potential regulatory variants in the NFKB1 gene (rs3774937 and rs4648011) were associated with a faster hearing loss progression in patients with unilateral SNHL. So, individuals with unilateral MD carrying the C allele in rs3774937 or G allele in rs4648011 had a shorter mean time to reach hearing stage 3 (>40 dB HL) (log-rank test, corrected p values were p = 0.009 for rs3774937 and p = 0.003 for rs4648011, respectively). No variants influenced hearing in bilateral MD. Our data support that the allelic variants rs3774937 and rs4648011 can modify hearing outcome in patients with MD and unilateral SNHL.

4 Article Allelic variants in TLR10 gene may influence bilateral affectation and clinical course of Meniere's disease. 2013

Requena, Teresa / Gazquez, Irene / Moreno, Antonia / Batuecas, Angel / Aran, Ismael / Soto-Varela, Andres / Santos-Perez, Sofia / Perez, Nicolas / Perez-Garrigues, Herminio / Lopez-Nevot, Alicia / Martin, Eduardo / Sanz, Ricardo / Perez, Paz / Trinidad, Gabriel / Alarcon-Riquelme, Marta E / Teggi, Roberto / Zagato, Laura / Lopez-Nevot, Miguel A / Lopez-Escamez, Jose A. ·Human DNA Variability Department, Centro de Genómica e Investigación Oncológica, Pfizer/Universidad de Granada/Junta de Andalucía (GENYO), Granada, Spain. ·Immunogenetics · Pubmed #23370977.

ABSTRACT: Toll-like receptors trigger the innate immune response by activating various cell types such us macrophages and lymphocytes. We genotyped SNV of TLR3, TRL7, TLR8 and TLR10 in 863 Spanish and 150 Italian patients with Meniere's disease (MD) and 1,013 controls by using Taqman assays. Real-Time qPCR was used to measure the expression level of TLR10 in peripheral blood leukocytes. The overall dataset showed that the C allele and the CC genotype of rs11096955 in TLR10 gene were more commonly observed in controls than patients (corrected p = 1 × 10(-3), OR = 0.68 [95 % confidence interval, 0.54-0.84] for CC genotype; corrected p = 1.5 × 10(-5), OR = 0.75 [0.66-0.85] for allele C). Moreover, the CC genotype was more frequent in patients with uni- (19 %) than bilateral sensorineural hearing loss (SNHL) (13 %). Logistic regression demonstrated that the time since the onset of MD, Tumarkin crises, hearing stage and rs11096955 were independent factors influencing the risk of bilateral SNHL. In addition, rs11096955 influenced hearing loss progression in patients with bilateral MD. No change in expression of TLR10 was observed according to CC, CA or AA genotypes. Our data suggest that allelic variants of TLR10 gene may influence the susceptibility and time-course of hearing loss of MD in the European population.

5 Article Functional variants of MIF, INFG and TFNA genes are not associated with disease susceptibility or hearing loss progression in patients with Ménière's disease. 2013

Gázquez, Irene / Moreno, Antonia / Requena, Teresa / Ohmen, Jeff / Santos-Perez, Sofia / Aran, Ismael / Soto-Varela, Andres / Pérez-Garrigues, Herminio / López-Nevot, Alicia / Batuecas, Angel / Friedman, Rick A / López-Nevot, Miguel A / López-Escamez, Jose A. ·Otology and Neurotology Group CTS495, Centro de Genómica e Investigación Oncológica Pfizer-Universidad de Granada-Junta de Andalucía (GENyO), Avda. de la Ilustración, 114, 18014 Granada, Spain. ·Eur Arch Otorhinolaryngol · Pubmed #23179933.

ABSTRACT: Variability in acute immune response genes could determine susceptibility or prognosis for Ménière's disease (MD). The cytokines tumor necrosis factor α (TNFα), macrophage migration inhibitory factor (MIF) and interferon γ (INFγ) are proinflammatory cytokines of the innate immune response. These cytokines mediate inflammation and have been previously associated with the inflammatory process in several autoimmune diseases. We investigated the association between functional allelic variants of MIF (rs35688089), IFNG (rs2234688) and TNFA (rs1800629) in patients with MD. In addition to testing these variants for an association with disease, we also tested for an association with clinical aspects of disease progression, such as persistence of vertigo and the sensorineural hearing loss. A total of 580 patients with diagnosis of definite MD, according to the diagnostic scale of the American Academy of Otolaryngology-Head and Neck Surgery, and 552 healthy controls were included. DNA samples from a set of 291 American patients were used to confirm the results obtained in the MIF gene in our Spanish cohort. Although we found a significant association with the allele containing five repeats of CATT within the MIF gene in patients with MD in the Spanish cohort [corrected p = 0.008, OR = 0.69 (95 % CI, 0.54-0.88)], this finding could not be replicated in the American set. Moreover, no genetic associations for variants in either the TNFA or IFNG genes and MD were found. These results support the conclusion that functional variants of MIF, INFG, and TFNA genes are not associated with disease susceptibility or hearing loss progression in patients with MD.