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Hearing Disorders: HELP
Articles by Lidia Frejo
Based on 3 articles published since 2010
(Why 3 articles?)
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Between 2010 and 2020, L. Frejo wrote the following 3 articles about Hearing Disorders.
 
+ Citations + Abstracts
1 Article Recommendations on Collecting and Storing Samples for Genetic Studies in Hearing and Tinnitus Research. 2019

Szczepek, Agnieszka J / Frejo, Lidia / Vona, Barbara / Trpchevska, Natalia / Cederroth, Christopher R / Caria, Helena / Lopez-Escamez, Jose A. ·Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany. · Department of ORL, Head and Neck Surgery, Berlin Institute of Health, Berlin, Germany. · Otology & Neurotology Group CTS495, Department of Genomic Medicine, Centro de Genómica e Investigación Oncológica, Pfizer/Universidad de Granada/Junta de Andalucía (GENyO), Granada, Spain. · Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany. · Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden. · Biosystems and Integrative Sciences Institute (BioISI), Lisbon, Portugal. · Biomedical Sciences Department, School of Health, Polytechnic Institute of Setubal, Setubal, Portugal. · Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg. · Department of Otolaryngology, Instituto de Investigación Biosanitaria, ibs.GRANADA, Hospital Universitario Virgen de las Nieves, Granada, Spain. ·Ear Hear · Pubmed #29889665.

ABSTRACT: OBJECTIVES: Research on the genetic basis of tinnitus is still in its first steps. A group of scientists dedicated to tinnitus genetics within European Tinnitus Network (TINNET) network recognize that further progress requires multicenter collaborative efforts for defining contributing genes. The purpose of the present work is to provide instructions regarding collection, processing, storage, and shipment of samples intended for genetic studies in auditory research. DESIGN: One part of the recommendations has a general character; another part is of particular importance for auditory healthcare practitioners such as otolaryngology physicians, audiologists, and general practitioners. RESULTS: We provide a set of instructions and various options for obtaining samples. We give advice regarding sample processing, storage, and shipment and define the minimal and essential clinical information that should accompany the samples collected for genetic processing. CONCLUSIONS: These recommendations offer a basis to standardize and optimize collaborations between geneticists and healthcare practitioners specialized in tinnitus and hearing disorders.

2 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 / Anonymous7350895. ·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.

3 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