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91 Cards in this Set

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