Relevant bibliographies by topics / Hearing loss Hearing loss Genetic predisposition to disease

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Hearing loss Hearing loss Genetic predisposition to disease'

Author: Grafiati
Published: 4 June 2021
Last updated: 15 February 2022

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Journal articles on the topic "Hearing loss Hearing loss Genetic predisposition to disease"

1

Baiduc, Rachael R., and Elizabeth P. Helzner. "Epidemiology of Diabetes and Hearing Loss." Seminars in Hearing 40, no. 04 (2019): 281–91. http://dx.doi.org/10.1055/s-0039-1697643.

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AbstractHearing loss is a highly prevalent chronic condition. In addition to age, sex, noise exposure, and genetic predisposition, cardiovascular disease and its antecedents may precipitate hearing loss. Of emerging interest is the connection between diabetes and auditory dysfunction. Cross-sectional studies consistently suggest that prevalence of hearing loss is higher in persons with diabetes compared with those without diabetes, especially among younger persons. Furthermore, longitudinal studies have demonstrated higher incidence of hearing loss in persons with diabetes compared to those wi
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2

Armakov, Sergey. "Causes and Types of Sensorineural Hearing Loss. Clinical Manifestations and Basic Principles of Treatment." Spravočnik vrača obŝej praktiki (Journal of Family Medicine), no. 9 (August 27, 2020): 9–16. http://dx.doi.org/10.33920/med-10-2009-01.

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Sensorineural hearing loss is a disorder associated with the damage to the inner ear structures: the cochlea (cortical organ), dysfunctioning of the vestibule-cochlear nerve or the central part of the auditory analyser (brain stem and cortical representation of the cortical temporal lobe). In recent years, there has been a steady increase in ensorineural hearing loss patients; they account for ca. 70% among the total patients with impaired hearing. The disease has numerous causes and a complex pathogenesis. Among the main factors contributing to hearing loss are genetic predisposition, perinat
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3

Perez-Carpena, Patricia, and Jose A. Lopez-Escamez. "Current Understanding and Clinical Management of Meniere's Disease: A Systematic Review." Seminars in Neurology 40, no. 01 (2019): 138–50. http://dx.doi.org/10.1055/s-0039-3402065.

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AbstractMeniere's disease (MD) is a set of uncommon disorders with core phenotype of tinnitus, episodic vertigo, and sensorineural hearing loss. MD shows a genetic predisposition and a family history is found in 10% cases, with an autosomal dominant inheritance pattern. It is a multifactorial condition whose onset and development are triggered by the combined effect of genetic and environmental factors. Histopathological studies have associated MD with the accumulation of endolymph in the cochlea and the vestibular organs. However, endolymphatic hydrops does not fully explain the persistence o
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4

Delmaghani, Sedigheh, and Aziz El-Amraoui. "Inner Ear Gene Therapies Take Off: Current Promises and Future Challenges." Journal of Clinical Medicine 9, no. 7 (2020): 2309. http://dx.doi.org/10.3390/jcm9072309.

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Hearing impairment is the most frequent sensory deficit in humans of all age groups, from children (1/500) to the elderly (more than 50% of the over-75 s). Over 50% of congenital deafness are hereditary in nature. The other major causes of deafness, which also may have genetic predisposition, are aging, acoustic trauma, ototoxic drugs such as aminoglycosides, and noise exposure. Over the last two decades, the study of inherited deafness forms and related animal models has been instrumental in deciphering the molecular, cellular, and physiological mechanisms of disease. However, there is still
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5

Yetiser, Sertac. "Review of the pathology underlying benign paroxysmal positional vertigo." Journal of International Medical Research 48, no. 4 (2019): 030006051989237. http://dx.doi.org/10.1177/0300060519892370.

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The pathophysiological mechanism underlying benign paroxysmal positional vertigo (BPPV) is related to free-floating debris/otoliths in the semicircular canal (canalolithiasis) or debris/otoliths attached to the cupula (cupulolithiasis). These debris/otoliths are considered to originally accumulate after detachment from the neuroepithelium of the utricular macula secondary to a type of degeneration. An idiopathic form, which is assumed to occur spontaneously, is diagnosed when the causative pathology is obscure. However, an association between various other systemic or inner ear conditions and
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6

Tsuiki, Takashi. "Streptomycin hearing loss and genetic predisposition to hearing loss of cochlear origin." AUDIOLOGY JAPAN 53, no. 6 (2010): 653–63. http://dx.doi.org/10.4295/audiology.53.653.

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7

Vrzalova, Zuzana, Katerina Stano Kozubik, Lenka Radova, Jakub Trizuljak, Sarka Pospisilova, and Michael Doubek. "Characterization of Pathogenic Variants Associated with Hereditary Thrombocytopenias in Families from the Czech Republic." Blood 134, Supplement_1 (2019): 2343. http://dx.doi.org/10.1182/blood-2019-122696.

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Introduction Inherited thrombocytopenias (IT) are a heterogeneous group of 33 different forms of monogenic disorders caused by molecular defects affecting 40 genes at least. The pathogenic germline variants play an important role in the development and maintenance of hematopoietic system (megakaryopoesis and thrombopoesis). These changes lead to disruption of these processes and are presented as the thrombocytopenia phenotype (low platelet count, blood-examination). However, patients are occasionally misdiagnosed with the immune thrombocytopenia and unsuccessfully treated with steroid therapy
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8

Jayarajan, V., M. A. Patton, and D. Rajenderkumar. "Genetic Predisposition and Sensorineural Hearing Loss following Bacterial Meningitis: Is there a Link?" Journal of Infection 44, no. 3 (2002): 210. http://dx.doi.org/10.1053/jinf.2002.0969.

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9

Catto, Luiz Fernando B., Gustavo Borges, André L. Pinto, et al. "Somatic genetic rescue in hematopoietic cells in GATA2 deficiency." Blood 136, no. 8 (2020): 1002–5. http://dx.doi.org/10.1182/blood.2020005538.

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Haploinsufficiency of GATA2 caused by heterozygous loss-of-function mutations is associated with cytopenias and predisposition to myelodysplasia and AML with other variable extrahematopoietic manifestions, including lymphedema, pulmonary alveolar proteinosis, and hearing loss. The authors report on 2 siblings with the disorder whose father was asymptomatic because of an acquired missense mutation in the affected allele that was restricted to hematopoietic cells; surprisingly, he also had no extrahematopoietic complications.
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10

Bashmakova, E. E., V. V. Krasitskaya, A. D. Yushkova, K. G. Dobrecov, and L. A. Frank. "To the question of genetic predisposition to the development of professional sensorineural hearing loss." Vestnik otorinolaringologii 86, no. 1 (2021): 15. http://dx.doi.org/10.17116/otorino20218601115.

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Dissertations / Theses on the topic "Hearing loss Hearing loss Genetic predisposition to disease"

1

Balciuniene, Jorune. "Genetic studies of two inherited human phenotypes : Hearing loss and monoamine oxidase activity." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2001. http://publications.uu.se/theses/91-554-4917-4/.

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2

Carlsson, Per-Inge. "Hearing impairment and deafness : genetic and environmental factors - interactions - consequences : a clinical audiological approach /." Örebro : Örebro University : University Library, 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-94.

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3

Skjönsberg, Åsa. "Hereditary susceptibility to inner ear stress agents studied in heterozygotes of the German waltzing guinea pig /." Stockholm, 2006. http://diss.kib.ki.se/2006/91-7140-817-7/.

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4

Campbell, Colleen Ann. "Identification of a genetic contribution to Meniere's disease." Diss., University of Iowa, 2010. https://ir.uiowa.edu/etd/2832.

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Ménière's disease (MD) is a complex disorder of the inner ear characterized by the symptoms of hearing loss, tinnitus, and vertigo, with an incidence in Caucasians of one in 1000. The hallmark histopathologic feature of MD is endolymphatic hydrops. Symptoms of MD typically present in the fourth decade of life, and the vertigo attacks experienced by patients with MD can be debilitating. Treatments aimed at alleviating the symptoms of MD are ineffective in approximately 30% of patients. Several studies have attempted to iden
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5

Mohamed, Walaa. "The identification of the genetic defects underlying monogenic recessive hearing loss at arab population." Doctoral thesis, Universitat Autònoma de Barcelona, 2021. http://hdl.handle.net/10803/671272.

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Els trastorns genètics congènits són importants a tots els nivells assistencials a causa de la seva càrrega important per a les persones i les societats afectades. Poden ser causats per factors genètics o desencadenats per exposicions ambientals. Una elevada prevalença de matrimonis consanguinis és present a moltes comunitats de tot el món, especialment als països de l’Orient Mitjà i el nord d’Àfrica. A causa de les altes taxes de consanguinitat en aquestes poblacions, hi ha un augment de la taxa de trastorns congènits monogènics, inclosa la pèrdua auditiva autosòmica recessiva no síndrome (NS
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Pêgo, Sara Maria de Cabral Martins. "Developing real-time PCR genetic tests for fast diagnosis of LHON and hearing loss." Master's thesis, 2019. http://hdl.handle.net/10773/27917.

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Mitochondrial cytopathies are a set of diseases caused by a disturbance in the cell energy production. Mitochondrial dysfunction impairs efficiency of the mitochondrial respiratory chain (MRC) and ATP production, affecting the organism’s energetic equilibrium. Pathogenic sequence variants in mitochondrial DNA (mtDNA) that lead to these pathologies are more frequent in tissues that need higher energy levels to function. The presented work looks into two such diseases: Leber’s Hereditary Optic Neuropathy and mitochondrial non-syndromic Hearing Loss (MNSHL). LHON is characterized by presence of
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Books on the topic "Hearing loss Hearing loss Genetic predisposition to disease"

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Li, Ha-Sheng. Genetic influences on susceptibility of the auditory system to aging and environmental factors. Scandinavian University Press, 1992.

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2

Li, Ha-Sheng. Genetic influences on susceptibility of the auditory system to aging and environmental factors. Scandinavian University Press, 1992.

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3

Price, Susan. Genetic bone and joint disease. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0276.

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Genetic conditions affecting the skeleton and supporting structures are individually rare and heterogeneous. This chapter presents an approach to assessing patients with suspected skeletal dysplasia, osteogenesis imperfecta, Marfan syndrome, and Ehlers–Danlos syndrome. Skeletal dysplasias are caused by abnormalities of bone growth and modelling; the commonest non-lethal type is achondroplasia, with an incidence of 1/10 000 to 1/30 000. The typical presentation of osteogenesis imperfecta is with multiple fractures, sometimes prenatally. There may be associated short stature, bone deformity, den
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4

J, Judd Sandra, ed. Ear, nose, and throat disorders sourcebook: Basic consumer health information about disorders of the ears, hearing loss, vestibular disorders, nasal and sinus problems, throat and vocal cord disorders, and otolaryngologic cancers, including facts about ear infections and injuries, genetic and congenital deafness, sensorineural hearing disorders, tinnitus, vertigo, ménière disease, rhinitis, sinusitis, snoring, sore throats, hoarseness, and more; along with reports on current research initiatives, a glossary of related medical terms, and a directory of sources for further help and information. 2nd ed. Omnigraphics, 2006.

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Book chapters on the topic "Hearing loss Hearing loss Genetic predisposition to disease"

1

Vishnuram, B., Samathana Prabu, P. Samuel Santhosh Kumar, and Venusha Oliver. "Genetic Knowledge among Audiologist Related to Hearing Loss: A Recent Study." In Challenges in Disease and Health Research Vol. 8. Book Publisher International (a part of SCIENCEDOMAIN International), 2021. http://dx.doi.org/10.9734/bpi/cdhr/v8/7590d.

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Conference papers on the topic "Hearing loss Hearing loss Genetic predisposition to disease"

1

Amini, Rouzbeh, Alina Oltean, Vincent Barnett, Yoav Segal, and Victor H. Barocas. "Mechanical Properties of the Porcine Lens Capsule." In ASME 2008 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2008. http://dx.doi.org/10.1115/sbc2008-192664.

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Basement membranes are ubiquitous. In humans, genetic disorders in basement membranes can lead to many complications including kidney disease, skeletal muscle myopathy, hearing loss, and ocular abnormalities[1]. We hypothesize that genetic mutation of the microstructure of the lens capsule basement membrane will alter its mechanical properties. Because of its unique thickness and anatomically distinct margins, the lens capsule is the only site in the body where large-scale mechanical tests on the basement membrane can be made.
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