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91 Cards in this Set
- Front
- Back
140. What is an important and unusual protocol for medical-based professional in consideration of auditory dysfunction?
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Often there is no medically based treatment for many or most causes of hearing loss, more value is based on preventing progression
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141. What is a gene?
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it is the functional unit of genetics, chemical building blocks
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What is DNA?
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nucleic acid molecule that is in the form of a twisted helix full form deocyribonucleic acid
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How are genes and dna related?
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genes make up dna molecules
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142. What is the relationship between: gene DNA and proteins?
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genes which make up dna instruct the cells to build proteins
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143. What is the genetic code?
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the entire string of dna
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144. Approximately how many human genes are there?
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35,000
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145. How many chemical base pairs of dna are there?
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3 billion
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146. what is junk dna?
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This is the other 95% of dna that aren’t utilized
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Approximately what percentage of human dna is “junk dna”?
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95%
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Why is the term junk dna misleading or inaccourate?
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Because just cause we don’t know what is does does not make it junk
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147. What is elsi?
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ethical legal social issues this talks about the implications of using genetics so there is no miss use
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148. What branch of the Us government is funded for the human genome project?
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Department of energy
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149. What is a person’s genotype?
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the genetic makeup of an organism “genetic code”
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What is a persons phenotype?
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the physical characteristics of a person the observable characteristics
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150. What is the total number of human chromosomes?
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46 total chromosomes
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How many autosomes?
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22 pairs
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How many sex chromosomes?
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2
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151. is it possible to have more or less in the number of chromosomes?
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yes example is down syndrome trisomy 21 (3 number 21 chromosomes)
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152. What is “locus” as regards a gene?
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it is the specific location of a gene on a chromosome
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153. Approximately what percentage of congenital deafness is genetic in etiology?
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80% is autosomal recevieve
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154. As of 2005, approximately how many genetic types of deafness have been documented?
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400 known genetic deafness of all congenital defness half are due to genetic factors
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155. In addition to genes which directly cause deafness, what other kinds of genes are involved in deafness?
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direct genes and susceptibility genes
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156. What is autosomal dominant inheritance?
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it is a type of single gene inheritance where only one mutant gene for trait to be expressed
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What is the probability of a dominant autosomal transmission?
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all you need is one muntunt copy and this will be expressed type of gene 50% normal -50% abnormal
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157. What is autosomal recessive inheritance?
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this is a type of dingle gene inheritance where two copies of a mutant gene are needed for trait to be exspressed
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What is the probability of a recessive autosomal transmission?
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a 25% chance
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158. What are some differences between dominant vs. recessive transmission?
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a dominant gene you only need one but a recessive you need two of the same gene in order to get a transmission
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For example, what are the differences in percentage of incidence for recessive and dominant?
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50% in a dominant and 25% for recessive
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159. What is another type of genetically transmitted inheritance pattern?
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matrilinear mother passes to all children
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160. How is a condition like Down Syndrome different from a single gene defect?
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Error in the number of chromosomes affects the entire body
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161. What are six general classes of problems that can affect the outer ear?
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Physical, dermatological, inflammatory, blockage, trauma or neoplasm,
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162. What type of hearing loss is associated with outer ear disorders?
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malformed auricle/ microtia
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163. What general statements can you make regarding congenital malformation of the pinna (and EAC)?
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Stenotic or atresia
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164. What is microtia (anotia), and atresia?
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No ear cannal
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165. What is otitis externa?
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It is a skin inflamed
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what are symptoms of otitis?
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swelling and discharge
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What causes otitis?
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Bacteria, virus, fungus, (bacterial otitis) Treatment for otitis?
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166. What are other inflammatory conditions affecting the auricle and EAC?
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keloids a response to condition keloid a response to condition kelopd inflammatory response
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167. What are different causes of blockage in EAC?
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Extrinsic objects (foreign body) or intrinsic objects (cerumen or exostosis)
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168. When is hearing loss associated with disorders of the outer ear?
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when the ear cannal is compromised when it is blocked
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169. What are some typical traumatic events that can affect the outer ear?
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Extrinsic blockages lacerations burns
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170. What are malignancies that affect the outer ear?
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cancer
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171. Does a disorder in OE or ME always have associated hearing loss?
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no not always
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172. When is hearing loss associated with disorders of the TM?
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When there is a perforation in it
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What type of hearing loss is associated with middle ear disorders?
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173. What are typical audiometric findings with a disorder of the middle ear?
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more movement at the tm conductive hearing loss larger space
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174. What is a problem that affects the tympanic membrane?
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perforation or tympanosclerosis
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175. What are some causes of TM perforation?
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self inflicted trauma ear disease
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176. What are some test findings seen in TM perforation?
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tymponomitry gives you a volume reading and if the volume is larger then normal then you are measuring more.. ie all the way to the middle ear
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177. What is tympanosclerosis?
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(Be able to distinguish it from “otosclerosis” later on). White plaque material on TM after affect of inflammation disease classification does not cause hearing loss
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178. What are risks/complications associated with TM perforation?
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water precautions, risk of infection in me cavities, risk of cholestreatoma, grown in inner ear
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179. What are four example disorders that affect the middle ear?
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otosclerosis, consequences of trama, otitis media, cholestreatoma
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180. Generally, what is the actual cause of hearing loss when there is hearing loss in a middle ear disorder?
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occicular chain is compromised
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181. What are some genetic differences that affect the middle ear?
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Malformed or absent ossicles, may occur in a syndrome like treacher Collins syndrome
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182. What is one example genetic syndrome that affects both outer and middle ears?
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apent syndrome
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183. What is otosclerosis?
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fixation of stapes in oval window due to anomalous “new” bone formation
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What happens to cause stapes fixation?
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a bone grows over the stapes What are remedies?
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184. What traumatic events can affect the middle ear and cause hearing loss?
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ossivular disarticulation, auto accidents. Q-tipping
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185. What is Eustachian tube dysfunction (ETD)?
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the Eustachian tube can not open
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186. What are two classes of ETD?
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extrinsic and intrinsic
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What is an example of each of the two classes of etd?
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extrinsic swollen tonsils or adenoids intrinsic inflammation of the et
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187. What changes in the ME does ETD lead to?
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retraction of tm and breakdown of cells in lining
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188. In general, what is otitis media?
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Inflammation of the middle ear
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189. What are characteristics of acute otitis media?
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infection, isolated incidents.
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190. What are characteristics of otitis media with effusion?
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presence of fluid no infection after edt
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191. What is cholesteatoma?
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this is the accumulation of dead or exfoliating skin that adds up
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What causes cholesteatoma?
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marginal tm perforation meningitis
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192. What are consequences if cholesteatoma is not removed?
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this can erode the chain of ossicles and erode into the brain
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What are consequences even if the cholestreatoma is removed successfully?
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may require a hearing aid mild conductive hearing loss
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193. What typically causes congenital differences in inner ear structure?
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environmental and genetics
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194. In considering congenital hearing loss, what percentage is inherited/genetic?
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50%
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195. What percentage of inherited hearing loss is syndromic?
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30%
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what percent of hearing loss is Nonsyndromic?
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70%
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196. What is an example of a syndrome with hearing loss?
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Treacher colons ir usher syndrome, or pendred syndrome, or alport syndrome
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What else besides hearing loss is involved?
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Blindness or kidney problems or heart problems….
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197. In considering nonsyndromic genetic hearing loss, what is the most common genetic mutation?
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It is a gene called gjb2 with locus at dfnb1 on chromosome 13 (13q12)
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What percentage of nonsyndromic hearing loss does gjb2 account for?
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60%
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198. What are two routes of transmission that infectious disease can reach an inner ear?
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maternal/transplacental bloodstream
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199. What is the group of infectious diseases which may cause prenatal hearing loss?
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Toxoplasmosis rubella herpes syphilis
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200. What else can cause cochlear hearing loss in an infant?
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Prematurity, hypoxia, rh incompatibility
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201. Which infectious disease is a common cause of postnatal/acquired hearing loss?
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Meningitis
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202. Although not an infectious disease, what inflammatory “disease” is a commonly diagnosed inner ear problem?
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Cytomegalovirus – are deposited into the audio system at birth but shows signs later 1-2 years
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203. What are symptoms of taking accutane dilantine or quinine?
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vertigo, unilateral sensorineural hearing loss, tinnitus
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204. What are the four classes/types of ototoxic drugs?
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Antineoplastic, aminoglucoside, loop diuretics, analgesics and antimalarials
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205. For which type is there a genetically transmitted susceptibility?
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aminoglycoside anitibiotic
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206. What are two different and distinct ways an inner ear can be damaged?
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duration of exposure and intensity of acoustic stimulation
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207. What is the name given to hearing changes due to the aging process?
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presbycusis
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208. What are some of the audiologic findings in presbycusis?
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mild to moderate high frequency snhl reduced word understanding
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209. What do current and projected US population statistics tell about presbycusis?
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21% incidence over 5 years in inicially normal hearing people
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138. what are the four general things that can cause dysfunction of the auditory system?
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disease, degeneration, difference , damage
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