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DeafnessAminoglycosidesGentamicinsPoint MutationKanamycinMutation, MissenseAnti-Bacterial AgentsKanamycin KinaseTobramycinMutationAmikacinNetilmicinFramycetinParomomycinNeomycinHearing Loss, SensorineuralDibekacinPedigreeAcetyltransferasesFrameshift MutationDrug Resistance, MicrobialNebramycinSisomicinStreptomycinHearing LossGerm-Line MutationMicrobial Sensitivity TestsMicromonosporaGenes, RecessiveMolecular Sequence DataButirosin SulfateCochleaBase SequenceHair Cells, AuditoryRibostamycinEscherichia coliDihydrostreptomycin SulfateDrug Resistance, BacterialDNA Mutational AnalysisPseudomonas aeruginosaAmino Acid SequenceSyndromePolymerase Chain ReactionCodon, NonsenseAudiologyEncyclopedias as TopicHumanitiesBooksSocial SciencesInternetScience
OtotoxicityNonsyndromic deafnessAssociated with aminoglycoside inducedGenesGentamicinAntibioticsSensorineural hearChildren with deafnessOtotoxic drugsHereditaryRRNA geneGJB2ProfoundPathogenicGene mutationsPoint mutationsGenetic mutationsNeomycinStreptomycin1555AMtDNADisordersEndocarditisAntibioticPrelingualVestibularHeterogeneousDeletionsPartial or totalChromosomeIncidenceHearing lossNeurologicalBilateralDiagnosisClinicalRibosomalPatientsSensoryToxicityFamiliesConcurrentTuberculosisWidelyMolecularDiseases
Ototoxicity8
  • Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. (bmj.com)
  • In 1993 it was shown that an A to G substitution at base pair 1555 of the mitochondrial 12S ribosomal RNA gene was the only mutation common to all the families with aminoglycoside ototoxicity. (bmj.com)
  • We have thus confirmed the clinical relevance of the 1555 A to G mitochondrial mutation in the 12S rRNA gene by identifying it in affected subjects with familial aminoglycoside ototoxicity in another ethnic group. (bmj.com)
  • There have been reports of cases of an increased risk of ototoxicity with aminoglycosides administered to patients with mitochondrial mutations, including cases where the patient's aminoglycoside serum levels were within the recommended range. (medscape.co.uk)
  • Some mitochondrial DNA mutations predispose to aminoglycoside ototoxicity. (msdmanuals.com)
  • The scientists, led by Bo Zhao, Doctor of Philosophy at IU School of Medicine designed one of the first lab samples that are unresponsive to aminoglycoside-caused ototoxicity. (elifeclinics.com)
  • The state of ototoxicity-hearing loss because of medication-is one of the leading causes of deafness according to statistical data - just in the USA, over 45 million persons have damaged hearing. (elifeclinics.com)
  • [ 1 ] These findings, coupled with ototoxicity associated with later development of other aminoglycosides, led to a great deal of clinical and basic scientific research into the etiology and mechanisms of ototoxicity. (medscape.com)
Nonsyndromic deafness4
  • Nonsyndromic Deafness is characterized by a partial or total sensorineural hearing loss (SNHL) of variable onset and severity that is not associated with other signs and symptoms. (wikipedia.org)
  • Most forms of nonsyndromic deafness are associated with permanent hearing loss caused by damage to structures in the inner ear. (wikipedia.org)
  • Molecular genetic tests are available for many types of syndromic and nonsyndromic deafness, although often only on a research basis. (nature.com)
  • Clinically, testing of GJB2 and GJB6 plays a prominent role in diagnosis and genetic counseling because mutations in these genes account for more than 50% of severe-to-profound autosomal recessive nonsyndromic deafness in many world populations. (nature.com)
Associated with aminoglycoside induced1
  • G variant associated with aminoglycoside-induced hearing loss is available through a separate testing indication, R65 (aminoglycoside exposure posing risk to hearing). (entandaudiologynews.com)
Genes9
  • Estimates of the different types of genetic deafness exceed 400, and to date, 60 genes for syndromic and nonsyndromic hearing loss have been identified. (nature.com)
  • Among the plethora of deafness genes discovered in the past decade, certain genes are more important than others from an epidemiologic perspective. (biomedcentral.com)
  • Germline mutations that activate genes in the canonical RAS/MAPK signaling pathway are responsible for rare human developmental disorders known as RASopathies. (bvsalud.org)
  • Mutations in the GJB2 , mitochondrial 12S rRNA, and SLC26A4 genes play important roles in hearing loss. (biomedcentral.com)
  • Autosomal recessive nonsyndromic hearing loss is an inherited form of congenital, prelingual deafness that is not associated with other clinical manifestations Nonsyndromic hearing loss may involve multiple nuclear or mitochondrial genes. (geneticscenter.com)
  • Mutations in at least three mitochondrial genes can cause cytochrome c oxidase deficiency, which is a condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. (medlineplus.gov)
  • In the past, genomic testing for deafness in England was extremely limited: for most patients, single gene testing for connexin 26/30 (GJB2/GJB6 genes) was the only readily available test, meaning many families remained undiagnosed. (entandaudiologynews.com)
  • Current R67 genes include those associated with non-syndromic and some syndromic conditions (particularly where deafness may be the presenting feature). (entandaudiologynews.com)
  • People with variations in form of SNP (single nucleotide polymorphisms) of catalase gene (CAT) and FOXO3 gene, genetic mutations in potassium ion channel genes (KCNQ4 and KCNE1), cadherin 23 (Cdh23) gene, protocadherin 15 (PCDH15), myosin 14 (MYH14), heart shock protein (HSP70) etc are found to have association with NIHL, but further replication in independent sample sets is mandatory. (drsanu.com)
Gentamicin3
  • Although these effects have not been reported following topical otic use of gentamicin, caution is advised when used concomitantly with systemic aminoglycosides. (medscape.co.uk)
  • No cases were identified with topical preparations, however there is a potential risk with gentamicin and other aminoglycosides administered at the site of toxicity. (medscape.co.uk)
  • Gentamicin is an antibiotic recently shown to reduce the risk of developing deafness according to a Stanford Medicine study. (labroots.com)
Antibiotics6
  • Irreversible hearing loss is a catastrophic complication of treatment with aminoglycoside antibiotics such as streptomycin, gentamycin, and kanamycin. (bmj.com)
  • Many kindreds showing a matrilineal pattern of inheritance of this trait have been described in China where the widespread use of aminoglycoside antibiotics accounts for approximately 25% of profound deafness in some districts. (bmj.com)
  • Ethacrynic acid and furosemide given IV have caused profound, permanent hearing loss in patients with renal failure who had been receiving aminoglycoside antibiotics. (msdmanuals.com)
  • Vestibular injury is also a notable adverse effect of aminoglycoside antibiotics and may appear early on with positional nystagmus. (medscape.com)
  • The aminoglycosides are bactericidal antibiotics that bind to the 30S ribosome and inhibit bacterial protein synthesis. (medscape.com)
  • The study found that re-formulating the drug that originally belongs to a class of antibiotics known as aminoglycosides. (labroots.com)
Sensorineural hear2
  • As controls, 200 individuals negative for GJB2 , SLC26A4 , and mtDNA 12S rRNA mutations were recruited, including 100 individuals with normal hearing (Group 1) and 100 patients with sensorineural hearing loss (Group 2). (biomedcentral.com)
  • Mutations in MT-TS1 are associated with childhood onset of sensorineural hearing loss, which is highly variable in severity. (geneticscenter.com)
Children with deafness2
  • In this module, we will refer to children with deafness or hearing loss as children who are deaf or hard of hearing, abbreviated D/HH. (medicalhomeportal.org)
  • If a potentially causative variant has been identified, further testing may be available for the patient's family, either to assist with interpretation of the variant, or to clarify the status of individuals who may be at an elevated chance of having deafness themselves, or of having children with deafness. (entandaudiologynews.com)
Ototoxic drugs2
  • Of all ototoxic drugs, the aminoglycosides are the most vestibulotoxic, although they vary greatly in their differential effects on the vestibular and cochlear systems. (medscape.com)
  • Other risk factors for noise induced hearing loss include smoking, presence of certain systemic disease like diabetes mellitus, cardiovascular diseases, those who have recreational drug use, chronic lead exposure, those exposed to ototoxic drugs (aminoglycosides, platinum derivatives) and industrial solvents (carbon monoxide, toluene) etc. (drsanu.com)
Hereditary2
  • Hereditary deafness is a genetically heterogeneous disease with an incidence rate of approximately 1/1000 [ 1 ]. (biomedcentral.com)
  • There is hereditary nephritis, haematuria, progressive renal failure and high-frequency sensorineural deafness usually more marked in males. (abcmedicalnotes.com)
RRNA gene3
  • Amplified mtDNA, obtained from transformed lymphoblastoid cell lines using previously described primers, showed the A to G point mutation in the 12S rRNA gene in two of the three families by restriction analysis as well as direct sequencing. (bmj.com)
  • Since the deafness caused by A1555G mutation in the mitochondrial 12S rRNA gene was first reported by Prezant et al. (biomedcentral.com)
  • For quantitative analysis of the mutation frequency at nucleotide 1555 in the control group and members of Family 2362, capture and next-generation sequencing (NGS) of a 147-bp DNA fragment corresponding to positions 1466-1612 of the mitochondrial 12S rRNA gene was performed on the Ion Proton System. (biomedcentral.com)
GJB23
  • Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss . (nih.gov)
  • Mutations in GJB2, encoding connexin 26 (Cx26), cause both autosomal dominant and autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNA3 and DFNB1 loci, respectively. (nih.gov)
  • GJB2 and SLC26A4 coding region mutation detection were performed using Sanger sequencing. (biomedcentral.com)
Profound4
  • "hearing impairment" and "hearing loss" are often used interchangeably by healthcare professionals to refer generically to a decrease in hearing capabilities, whereas "deafness" is a term that usually implies hearing thresholds in the severe-to-profound range by audiometry. (bredagenetics.com)
  • Mutations in MT-RNR1 may be associated with profound bilateral hearing loss after exposure to an aminoglycoside antibiotic. (geneticscenter.com)
  • In profound deafness, even the loudest sounds that can be produced by an audiometer (an instrument used to measure hearing) may not be detected. (findmeacure.com)
  • However, many professionals reserve the term 'deafness' to describe a severe to profound hearing loss. (medicalhomeportal.org)
Pathogenic3
  • Pathogenic mutations in the MT-RNR1 gene have been found to cause late-onset Mitochondrial Nonsyndromic Hearing Loss and Deafness with predisposed aminoglycoside ototoxicities. (wikipedia.org)
  • These mutations are generally accepted by the mitochondrial research community as being pathogenic. (mitomap.org)
  • P.M." (point mutation / polymorphism) status indicates that some published reports have determined the mutation to be a non-pathogenic polymorphism. (mitomap.org)
Gene mutations1
  • To extend the epidemiological data on common gene mutations in the Chinese population and to provide appropriate genetic testing and counseling for patients with NSHI in south China, we conducted a genetic analysis in this population. (biomedcentral.com)
Point mutations1
  • More than 200 point mutations in mitochondrial DNA (mtDNA) have been reported in the mtDNA mutation database MITOMAP. (biomedcentral.com)
Genetic mutations1
  • GeneXpert test involves looking at genetic mutations since the resistance arises from genetic mutations. (boneandspine.com)
Neomycin1
  • Neomycin should not be used for wound irrigation or for intrapleural or intraperitoneal irrigation because massive amounts of the medication may be retained and absorbed, causing deafness. (msdmanuals.com)
Streptomycin2
  • We ascertained three Mongolian pedigrees from the School for the Deaf and Blind in Ulaanbaatar, all of which contained multiple affected subjects with streptomycin induced deafness in a pattern consistent with matrilineal transmission. (bmj.com)
  • [4] Streptomycin is an aminoglycoside . (histo.cat)
1555A1
  • Mutations of 1494C>T, 1555A>G, and 1095T>C in the MT-RNR1 gene have been identified to cause the hearing loss. (wikipedia.org)
MtDNA4
  • Because of the characteristic inheritance pattern, mitochondrial DNA (mtDNA) mutations were postulated to be the cause of the deafness in these pedigrees. (bmj.com)
  • The mitochondrial 12S rRNA A1555G mutation is the most prevalent deafness-causing mitochondrial DNA (mtDNA) mutation and is inherited maternally. (biomedcentral.com)
  • Based on detailed mtDNA analyses of the family members using next-generation sequencing with 1% sensitivity to mutated mtDNA, the level of heteroplasmy in terms of the A1555G mutation in blood DNA samples was quantified. (biomedcentral.com)
  • The mtDNA mutations that cause this condition alter the proteins that make up cytochrome c oxidase. (medlineplus.gov)
Disorders2
  • 2012). It should be noted that, in rare cases, some autosomal dominant disorders occur due to a new mutation in the child and neither parent has the disorder. (listeningears.in)
  • After reminding the reader of the basic concepts of mitochondrial genetics, she offers examples of disorders due to mutations in mitochondrial DNA and mutations in nuclear DNA. (medlink.com)
Endocarditis1
  • Human infection is acquired through occupational contact or ingestion of undercooked pork-derived products and is associated with meningitis, endocarditis, septicemia, deafness, and death ( 5 ). (cdc.gov)
Antibiotic2
  • Aminoglycoside (AG), a broad-spectrum antibiotic substance that acts through inhibition of protein synthesis, for almost a hundred years has been applied in the cure of severe infectious conditions. (elifeclinics.com)
  • An aminoglycoside is often added to a beta-lactam antibiotic when serious Pseudomonas aeruginosa infections are treated. (medscape.com)
Prelingual1
Vestibular1
  • Despite the medicine being a first-line therapy for acute infections-especially in developing countries-because of its affordability and lowered rate of antimicrobial resistance, it has been stated to trigger the break-down of sensory receptors of both the auditory and the vestibular systems and following deafness among almost half of the patients. (elifeclinics.com)
Heterogeneous2
Deletions1
  • As people age, mitochondrial DNA accumulates damaging mutations, including deletions and other changes. (medlineplus.gov)
Partial or total1
  • Avoid application to open wounds or damaged skin as systemic absorption can cause irreversible partial or total deafness. (medscape.co.uk)
Chromosome1
  • Although females carry two copies of the X chromosome and single mutation carriers are often unaffected by the disorder, others may show a wide range of clinical symptoms. (listeningears.in)
Incidence2
  • In countries where aminoglycosides are widely used, genetic counselling and screening of high risk families before the use of these drugs could have a dramatic effect on the incidence of deafness. (bmj.com)
  • Little is known about the incidence of de novo A1555G mutations. (biomedcentral.com)
Hearing loss6
Neurological1
  • really, the infants of a fat was expedited as la by the Certain deafness, neurological of any pregnant tuberculosis or containing brain. (ccctw.hk)
Bilateral1
Diagnosis1
Clinical1
  • The clinical phenotype and gene analysis of syndromic deafness with PTPN11 gene mutation]. (cdc.gov)
Ribosomal1
  • The A1555G mutation is located in the aminoacyl-tRNA acceptor site of the small ribosomal subunit, which is highly conserved from bacteria to mammals [ 6 ]. (biomedcentral.com)
Patients2
  • G. The total mutation rate was 45.1% in all patients examined in south China. (biomedcentral.com)
  • The use of aminoglycoside treatment versus alternative options in patients with susceptible mutations should be considered. (medscape.co.uk)
Sensory2
Toxicity1
Families1
  • We reviewed the genetic characteristics of families possessing the A1555G mutation in the database of the Genetic Testing Center for Deafness (PLA General Hospital, Beijing, China) and found a family (Family 2362) that did not fully conform to the maternal genetic characteristics (Fig. 1 ). (biomedcentral.com)
Concurrent1
Tuberculosis1
  • Aminoglycosides can also be effective in the treatment of tuberculosis. (medscape.com)
Widely1
Molecular2
  • Table 1 indicates the other forms of deafness for which molecular genetic testing is currently available. (nature.com)
  • Here, we analyzed the molecular determinants of Costello syndrome (CS) using a mouse model expressing HRAS p.G12S, patient skin fibroblasts, hiPSC-derived human cardiomyocytes, a HRAS p.G12V zebrafish model, and human fibroblasts expressing lentiviral constructs carrying HRAS p.G12S or HRAS p.G12A mutations. (bvsalud.org)
Diseases1
  • Additionally, there are genetic diseases caused by mutations in chloride channels (channelopathies) - the most common being cystic fibrosis, which has a prevalence of 1 in 2,000 Caucasians. (passmed.uk)