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Midterm Exam Review
Midterm Exam Review
103
Medical
Graduate
03/17/2014

Additional Medical Flashcards

 


 

Cards

Term
Audiologic service provision to the pediatric population requires:
Definition

1. the establishment of an accurate diagnosis of hearing status,

2. effective family counseling conducted in parallel with the diagnostic process, and

3. timely service coordination

Term

Four elements of pediatric practice:

Definition

1. Accessible, contiuous, comprehensive, coordinated and compassionate care

2. Family-centered/culturally competent care

3. Extensive knowledge of social-emotional, cognitive and communicatve development; development of whole child; provision of developmentally appropriate care

4. EBP

Term

What is a medical home?

Definition

A family-centered medical home is an approach to providing primary care; works in partnership with a child and a child's family to assure that all of the medical and non-medical needs of the patient are met; the pediatric team can help the family/patient access, coordinate and understand care and services

Term

Genetic or hereditary hearing loss

Definition

That which is inherited through a family.  It can be present at birth (i.e., congenital) or occur in later life

Term

Heterozygote

Definition

If a person has ONE DEFECTIVE gene for hearing and ONE NORMAL gene (in the pair) then the person is called a heterozygote. 

Term
Homozygote
Definition

If both genes (in the pair) are defective then the person is called a homozygote.

Term
Dominant Inheritance
Definition

When only one defective gene (in the pair) is required for the trait to be expressed.

Term
Recessive Inheritance
Definition

When both defective genes (in the pair) are required to express the trait.

Term
X-linked Recessive Inheritance
Definition

Some genes for hearing loss are located on the X chromosome.  Males who have this gene are hearing impaired since they have only one X chromosome.  Females who have the gene for hearing impairment on one of their two X chromosomes are carriers.

Term
Penetrance
Definition

The frequency with which a genetic abnormality is manifested among those who possess it is called penetrance.  A fully penetrant gene will produce its effec in every person who has it.  A gene with reduced penetrance will only produce its affect in a proportion of individuals who have it.

Term
Variability of Expression
Definition

The variation in the clinical expressivity (manifestation) of a gene.

Term
Why might skin tags be a sign of cochlear hearing loss?
Definition
Because the outer ear and the cochlea both originate from the ectoderm.
Term
The outer ear and the cochlear both originate from the
Definition
ectoderm
Term
How does embryology help in the diagnosis of hearing loss?
Definition

1. Origin of structure

2. Timing and development of structures

Term
Pharyngeal arches give rise to:
Definition
Outer and middle ear structures (so disorders are likely to coexist in them simultaneously)
Term
Innear ear embryology is complete by ________.
Definition
5th month post-conception.
Term
Embryo stage lasts for:
Definition
8 weeks (fetus for remainder of gestational period)
Term
Phylogeny
Definition
Evolutionary changes in structures across species (i.e., from invertibrates to vertibrates)
Term
Ontogeny
Definition
development of structures within the individual
Term
Cell division
Definition
changes in the embryo take place by a process of cell division; later, through the process of cell differentiation, selective growth and cell-death, the adult form is reached
Term
Cells divide themselves into three layers. Name them:
Definition

Ectoderm - outer

Mesoderm - middle

Endoderm - inner

Term
Ectoderm:
Definition

Gives rise to external ear and membranous inner ear structures; also gives rise to outer skin layers, nervous system and sense organs

Term
Mesoderm:
Definition

Gives rise to middle ear ossicles and bony portion of inner ear; also gives rise to skeletal structures, circulatory structures, reproductive organs and kidneys

Term
Endoderm:
Definition

Gives rise to tympanic cavity and eustachian tube; also gives rise to digestive canal and respiratory organs

Term
Inner ear reaches full development by ________ month.
Definition
5th month.
Term
Vestibular portion matures before/after cochlear portion?
Definition
BEFORE
Term
Which takes longer to ossify -- stapes or malleus/incus?
Definition
Stapes takes longer to ossify than the malleus and incus.
Term
Pinna continues to grow until ____.
Definition
Age 9.
Term
Meatal plug becomes the _________.
Definition
Tympanic Membrane (the only part of the body that still has three layers)
Term
Origin of the TM layers
Definition

External layer: ectoderm

Middle layer: mesoderm

Internal layer: endoderm

Term
What structures originate from the 1st Pharyngeal Arch?
Definition

malleus

incus

tensor tympani muscle

Term
Which structures originate from the 2nd pharyngeal arch?
Definition

stapes

stapedius muscle

Term
The auricle originates from what?
Definition

1st and 2nd pharyngeal arches

and the

1st pharyngeal groove

Term
External auditory meatus originates from what?
Definition
1st pharyngeal groove
Term
List the two types of congential hearing loss and an example of each.
Definition

1. Genetic factors (ex: mondini syndrome - only one turn of the cochlea)

2. Environmental factors (ex: maternal rubella)

Term
Mobius Syndrome
Definition

No external ear canal;

Disorder of first and second brachial arch;

Ossicles are impaired;

Requires surgical intervention

 

Term
Causes of hearing loss can be (2)
Definition

1. genetic/hereditary

2. environmental/acquired

Term
Congenital
Definition
Present at birth (can be genetic or environmental)
Term

Mondini Dysplasia

a) what is it?

b) genetic causes?

c) non genetic causes?

Definition

Mondini Dysplasia

a) a single turn of the cochlea

b) Klippel Fiel syndrome, Arnold Chiari syndrome

c) Cytomegalovirus (CMV) or thalidomide injection by mother

Term

Schiebe Dysplasia


a) what is it?

b) genetic causes?

c) non genetic causes?

Definition

a) impaired development of the cochlea and saccule

b) Ushers Syndrome, Waardenburgs Syndrome

c) Maternal Rubella

Term
Example of genetic / non-congential hearing disorder
Definition
otosclerosis, presbycusis
Term
Example of non-genetic / non-congenital hearing disorder
Definition
noise induced hearing loss; trauma
Term
Human Genome Project
Definition

2003

Goals: to ID 20-25k genes in human DNA

Store information in databases

improve data analysis

transfer technologies to private sector

-->genetic testing to determine liklihood of different disorders

 

Term
Prelingual HL incidence:
Definition
1/1000
Term
Percentage of genetically caused HL:
Definition
50%
Term

Syndromic vs Non-Syndromic genetic cases:

(percentages)

Definition
25% vs 75%
Term
Percentage of Autosomal Dominant cases:
Definition
20%
Term
Percentage of Autosomal Recessive cases:
Definition
74%
Term
Percentage of x-linked heaing loss cases:
Definition
5%
Term
Percentage of mitochondrial hearing loss cases:
Definition
1%
Term
Heterozygote
Definition
if a person has one defective gene for hearing and one normal gene (in the pair, then the person is called a heterozygote
Term
Homozygote
Definition
if both genes (in the pair) are defective then the person is called a homozygote
Term
Dominant Inheritance
Definition
When only one defective gene (in the pair) is required for the trait to be expressed
Term
Recessive Inheritance
Definition
When both defective genes (in the pair) are required to express the trait
Term
X-Linked Recessive Inheritance
Definition
Some genes for hearing loss are located on the x chromosome. Males who have this gene are hearing impaired since they have only one x chromosome. Females who have the gene for hearing impairment on one of their two x chromosomes are carriers.
Term
Penetrance
Definition
the frequency with which a genetic abnormality is manifested among those who possess it is called penetrance.  A fully penetrant gene will produce its effect in every person who has it.  A gene with reduced penetrance will only produce its affect in a proportion of individuals who have it.
Term
Variability of Expression
Definition
refers to variation in the clinical expressivity (manifestation) of a gene
Term
Waardenburgs Syndrome
Definition

Autosomal (non-sex chromosomes) Dominant

Variable Expression

Penetrance for Deafness: 20%

White forelock: 17%

Lateral displacement of inner canthi: 99%

Hyperplasia of eyebrows: 99%

Term
Connexin 26
Definition
a protein that helps to maintain small channels (gap junctions) between the cells in the cochlea
Term
Explain how Connextin 26 works...
Definition
In the inner ear, potassium ions are relased from the hair cells into the supporting cells.  The K ions are then carried from cell to cell via gap junctions and released into the endolymph.  Connexin 26 is present in gap junctions connecting cell types in the cochlea (e.g., sprial limbus, supporting cells, spiral ligament, and stria vascularis).  Thus Connexin 26 is important for maintaining K and endolymph equilibrium in the scala media of the inner ear.
Term
What gene coes for Connexin 26 and where is it located?
Definition

Gap Junction Beta 2 (GJB2).

Located on chromosome 13.

Term
People with Connexin 26-related deafness have...
Definition
a variant of the GJB2 gene that does not make the Connexin 26 protein; therefore the gap junctions or channels do no tform properly and potassium cannot be recycles in the cochlea.
Term
Klippel-Feil Syndrome
Definition

- autosomal dominant

- HL - reduced penetrance and variable expression

- shortening of neck, low posterior hairline, restricted head/neck movement

- cervical skeletal anomoly resulting from faulty segmentation of mesoderm during 3rd-7th fetal week

- stapedial malformations (MIDDLE EAR)

- incudo-malleal malformations

- preauricular tags, microtia of pinna, atresia/stenosis of EAC

- HL can be mild to profound

- CNS involvement

Term
Turners Syndrome
Definition

- Chromsomal aberration resulting from loss of one of the X chromosomes

- Occurs in females only

- Mixed or SNHL

- auricles are low set and elongated, exhibit thick lobules (often cup-shaped)

- middle ear anomolies

   - stapes malformation

   - stapes footplate fixation

   - absence of stapedial tendon

- reproductive organ and renal abnormalities

 

 

Term
Cliedocranial Dystosis
Definition

- autosomal dominant

- high penetrance

- variable expression

- skeletal disorder of ossification

- absense of clavicles, softness (be cautious doing BC testing) and bossing of skull

- atresia/stenosis of EAC, ossicular malformation (stapes fixation)

- usually congential conductive loss, occasionally progressive hearing loss is reported

Term
Osteogensis Inperfecta
Definition

- disorganization of collagen structure of the bone (brittle bone disease)

- autosomal dominant

- variable expression

- large skull; bowing of legs; multiple fractures of the bones

- progressive conductive loss

- degeneration of stapes suprastructure

- hearing loss does not occur until early adulthood

Term
Orofacial digital syndrome
Definition

- autosomal recessive

- variable expression

- conductive loss

- incus and stapes malformations

- microtia / atresia of EAC

- cleft palate, tongue/teeth abnormalities

- short, thick digits

(*those with cleft palates need to be monitored for HL)

Term
Jervell-Lange Nielson Syndrome
Definition

- autosomal recessive

- cardiovascular disorder

- profound congential bilateral SNHL

- atrophy of inner ear organs (organ of corti, spiral ganglia, large PAS deposits in stria vascularis)

Term
Hand Hearing Syndrome
Definition

- autosomal dominant

- variable expression

- SNHL

- congenital hand abnormality (wasting of finger muscles)

Term
Trisomy 13
Definition

- extra chromosome during cell division

- 47 chromosomes often associated with increased maternal age

- low set ears, poorly differentiated pinnas, pre-auricular tags, absence of EAC, absense of ME, cleft/lip palate

- deformed ossicles, absence of stapedius muscle

- shortened cochlea, shortened endolymphatic valve, degeneration of the organ of corti, tectorial membrane, stria vascularis, and saccule

- prognosis is poor (95% die by age 3).

Term
Trisomy 21
Definition
Down's Syndrome
Term
Craniometaphysical Dysplasia
Definition

- autosomal dominant (mainly)

- osseous widening of bones; overgrowth of the craniofacial skeleton

- conductive, mixed or SNHL

- osseous invasion of tympanic cavity and/or cochlea

- ossicles are fixed at multiple sites and are large in size

Term
Hemifacial Microsomia
Definition

- anomolies of first and second brachial arch

- mandibular disorders, microtia, EAC atresia/stenosis, ME malformation

- incudeomallear fusion, stapedial suprastructure malformation, stapes footplate fixation, absense of stapes

- low set cup-shapes auricles with or without pre-auricular tags

- conductive HL

Term
Multifactoral
Definition
interaction of the gene and environment
Term
genetic imprinting
Definition
differences in severity of disorder depending on whether the defective gene was inherited from the father or mother
Term
uniparental disomy
Definition
when both chromosomes/genes in the pair are inherited from one parent
Term
genetic anticipation
Definition
when the symptoms worsen as the gene is inherited through successive generation
Term
Mitochondiral Hearing Loss
Definition
associated with predisposition to aminoglycoside ototoxicity and/or late-onset SNHL
Term
Prenatal Diagnosis
Definition

Blood tests

Amniocentesis

Ultrasound

Term
Role of AuD in genetic counseling
Definition

1. recognize etiology of HL

2. refer for genetic counseling

3. provide genetic counselor with necessary audiologic info

Term
Etiology
Definition
Cause of the disorder
Term
Physical Examination includes (2)
Definition

1. auricle

2. external auditory canal

Term
Auricle
Definition

- growns until 9 years of age

- look for abnormalities in the pinna

Term
External Auditory Canal
Definition

Only cartilaginous in infancy -- no bony growth

EAC is soft and compliant

-check for collapsing canals

-ensure that movement of the TM (not ear canal) is being recorded in tymps

Term
Otoscopy
Definition
Pull pinna up and back (down for infants). Ear canal is not fully formed.
Term
Anotia
Definition
total absence of pinna
Term
Microtia (3)
Definition

Abnormal smallness of pinna

Type 1 - mildest anomoly

Type 2 - moderate anomoly

Type 3 - severe anomoly; pinna is absent (anotia) characterized by a tiny nubbin of tissue in its place

 

Must do ABR; most surgeries to correct pinna do not occur until age 3.

Term
Atresia
Definition
Absence of ear canal opening; pinna looks great but no ear canal; must do BC ABR
Term
Stenosis (3)
Definition

Abnormally smal ear canal opening

Type 1- mild anomoly (stenotic ear canal and normal ME)

Type 2 - moderate anomoly (EAC absent and ossicular malformation in common)

Type 3 - severe anomoly (EAC and ME space absent)

 

Term
Pseudoatresia
Definition
Cartialage blocks the opening of the ear canal; normal ear canal and middle ear)
Term
Oedema
Definition
swelling
Term
erythema
Definition
redness
Term
desquamation
Definition
shedding of epithelium
Term
exudation
Definition
discharge of pus
Term
Otisis Externa
Definition
general term denoting inflammatory disorder of skin of pinna or EAC or both
Term
Common examples of otitis externa in children:
Definition

1. Fununculosis - infection of hair follicle in EAC

2. Swimmers ear - bacterial form of otitis externa occuring due to moisture

3. Viral otitis externa - herpes zoster virus causes blisters

4. Otitis Externa from trauma

 

Treatment can include drugs and surgical excision of blisters

Term
Growths/Benign Tumors
Definition

1. benign tumors

2. cysts of sebaceous and ceruminous glands

3. keloids - growths following surgery or trauma

4. osteomas and extoses - single and multiple bony growths of bony portion of EAC

5. aural polyps - inflammed tissues

 

Treatment includes surgical excision.

 

Term
Malignant tumors
Definition

- rare in children

- pinna is more frequently involved than EAC

- squamous cell carcinoma

- basal cell carcinoma

- treatment includes radical surgery; hearing conservation may be a secondary goal

Term
Eustachian Tube Dysfunction (basic definition and 5 types)
Definition

- impaired pressure equalization btwn ME and outside

- impaired drainage of ME secretions

1. intrinsic ET dysfx - when lining of ET thickens to obstruct airflow

2. extrinsic ET dysfx - when opening of ET is occluded on the nasypharyngeal end

3. function ET dysfx - in infants the ET is almost horizontal so it does not facilitate drainage

4. circumstantial ET dysfx - even a normal ET under some circumstances may not be able to equalize sudden large changes in pressure

5. patulous ET dysfx - ET is open all the time

Term
Otitis Media
Definition

- the most common childhood infection

- inflammation of the ME (most commonly due to ET dysfx)

- most common in first two years of life

1. acute - 0-21 days (most painful)

2. subacute - 22 days-8 weeks

3. chronic - more than 8 weeks

Term
Acute OM
Definition

- rapid onset bacterial infection

- otalgia, fever

- TM retracts into ME space because of neg pressure

- TM is stretched (atelactasis) -->

- blood vessels are dialated; fluid leaks into ME space

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