Block 12 Flashcards
(333 cards)
1
Q
Largest internal organ
A
Liver
2
Q
High LFTs and jaundice ar most commonly seen in which type of viral hepatitis
A
Acute viral hepatitis
3
Q
LFTs found in hepatocytes
A
ALT and AST
4
Q
LFTs found in bile duct lining cells
A
ALP and GGT
5
Q
Best, most specific liver test
A
ALT
6
Q
Rbc degredation product that is cleared by the liver
A
Bilirubin
7
Q
Which is more liver specific, ALT or AST
A
ALT
8
Q
Levels of ALT/AST in viral hepatitis
A
Very high bc of hepatocyte damage
9
Q
Levels of GGT/ALP/Bilirubin in viral hepatitis
A
Mildly elevated
10
Q
Levels of GGT/ALP/Bilirubin in pts with gallstones
A
Very high
11
Q
Levels of ALT/AST in pts with gallstones
A
Mildly elevated
12
Q
3 types of hepatitis that are blood borne
A
B C D
13
Q
95% of pigs/boars are infected with
A
HEV
14
Q
Which types of hepatitis are fecal/orally transmitted
A
HAV and HEV
15
Q
Is there a vaccine for HAV
A
Yes
16
Q
Most easily transmitted type of hepatitis
A
HBV
- via any body fluid
17
Q
Coinfects with HBV
A
HDV
18
Q
Can you vaccinate against HBV and HDV
A
Yes
19
Q
Worst type of hepatitis
A
HCV
20
Q
If a patient is infected with HBV, what will show up
A
HBsAg and Anti-HBcAg (core)
21
Q
If a patient is in recovery of HBV, what will show up
A
Anti-HBsAg (anti surface) and Anti-HBcAg (core)
22
Q
If a patient is immunized for HBV, what will show up
A
Anti-HBsAg (antisurface)
23
Q
Number one cause of chronic hepatitis, cirrhosis and liver cancer
A
HCV
24
Q
Which type of hepatitis cannot be prevented with vaccine
A
HCV and HEV
25
Haptocellular Carcinoma (HCC) is related to which types of hepatitis
HBV globally and HCV US
26
Occurs at the end of chronic liver disease
Cirrhosis
27
Jaundice is first seen where
Eye
28
What give urine a yellow color and feces a brown color
Urobilinogen
29
Deals with a copper transportation problem
Wilson’s disease
30
New onset neuropsychiatric manifestations can be related to
Wilson’s disease
31
Ocular manifestations in Wilson’s disease
Kaiser-fleischer ring
| Sunflower cataracts
32
Where/what is the Kaiser-fleischer ring
Copper in Descemet’s membrane
33
Where/what is sunflower cataract
Copper in ant and post capsule of the lens
34
What percent of patients with neurological Wilson’s disease will have kayser fleischer rings
Almost all
35
What percent of patients with hepatic Wilson’s disease will have kayser fleischer rings
50%
36
2 ways to treat Wilson’s disease
- Chelating agents
| - Blocking intestinal copper absorption with zinc salts
37
Example of a chelating agent to lower copper levels
Penicillamine
38
Example of a zinc salt used in treatment of Wilson’s disease
Zinc acetate
39
Iron overload
Hemochromatosis
40
What is hemochromatosis sometimes confused with
Polycythemia Vera (PCV)
41
Common sign of hemochromatosis
Bronzed skin hyperpigmentation
42
Lab results in hemochromatosis
High serum iron and ferritin
43
What is cholelithiasis
Gall stones
44
What is cholecystitis
Inflammation of the gallbladder
45
Where is pain in cholecystitis
right upper quadrant
46
Pain is worsened by what in cholecystitis
Fatty foots
47
Pain and belching after fatty meal
Cholecystitis
48
Lab results for cholecystitis
Bilirubin/GGT/ALP are very high
| AST/ALT are mildly elevated
49
Pancreatitis will spill what into the blood
Amylase and lipases
50
Commonly occurs secondary to alcohol abuse or gallstones
Pancreatitis
51
What is the 20% viral hepatitis rule of thumb
20% of chronic hepatitis progress to cirrhosis
| 20% of cirrhosis progresses to hepatocarcinoma
52
HBV carriers do not develop
Anti-HBsAg
53
Sever, liver destructive hepatitis caused by HBV
Fulminant hepatitis
54
Is it hard to treat HCV
No, but if not treated there is a 99% chance you will be a carrier
55
Which is more likely to be cured, HBV or HCV
HCV (90-98% cured, while only about 25% of HBV are cured)
56
Most likely complication of pancreatitis
Pancreatic cancer
57
Copper transport protein that may be low in Wilson’s disease
Ceruloplasmin
58
Levels in Wilson’s disease
Serum ceruloplasmin - low
| Serum free copper - high
59
What causes PCV
RBC overproduction
60
No urine production
Anuria
61
Painful urination
Dysuria
62
Amount of plasm filtered per unit of time
GFR
63
Toxic waste in the blood
Uremia
64
How many nephrons in each kidney
1 million
65
How much urine is produced per minute
1.2 mL
66
How much urine is produced per day?
1-2 L
67
Function of the glomerulus
Filters
| - produces cell/protein free ultrafiltrate
68
The 3 segments of the tubule in the nephron
Proximal to loop to distal
69
The tubule absorbs
H20, Na and glucose
70
The tubule secretes
K, H, HCO3
71
What do the collecting ducts do
Concentrate the urine under control of ADH
72
How does the kidney maintain the acid/base balance
HCO3- Can be regenerated/conserved
| H+ is secreted
73
The kidney regulates what 3 things
BP
RBC production (erythropoietin)
Calcium/phosphorus metabolism (vitD)
74
When do signs and symptoms first appear in kidney failure
After 75% of the nephrons fail
75
The GFR reflects what of the kidney
Kidney function
76
2 main uremia indicators
Creatinine and BUN
77
Urine in the blood
Uremia (renal impairment)
78
When the kidney function is lost, what happens to the blood levels of creatinine and BUN
Both increase
79
Rule of thumb for renal function
100/serum creatinine = renal function
80
How are BUN and creatinine levels typically related
Creatinine X 10 = BUN
81
Most common test for evaluating renal function
Serum creatinine blood test
82
The gold standard for determining GFR
Inulin Clearance
83
Most common GFR measure
Creatinine clearance
84
What will be present when you have a UTI
Leukocyte esterase
Protein
Blood
Nitrite
85
Significance of bilirubin in urine
Indicates liver problems
86
Starvation indicator
| - may be present if person is on a low carb diet
Ketones
87
Earliest indicator of kidney damage in diabetes
Microalbuminuria
88
What closely reflects GFR
Creatinine
89
Often overestimates renal function
Creatinine
90
Are creatinine levels impacted by diet
No
91
What is creatinine concentration proportional to
Muscle mass
92
Often underestimates renal function
BUN
93
Are BUN levels impacted by diet
Yes
94
Normal creatinine clearance
115-125 mL/min
| - think of CL as a percentage
95
2 types of cystic disorders
Adult polycystic disease
| Child polycystic disease
96
When are symptoms of adult polycystic disease produces
4th decade
97
Where are the cysts formed in adult polycystic disease
Liver or pancreas
98
Most common cause of upper urinary tract obstruction
Kidney stones (nephrolithiasis)
99
3 types of kidney stones
Calcium (calcium oxalate)
Magnesium ammonium phosphate
Amino acids
100
Signs/symptoms of kidney stones
Dull, deep, achy pain in back
Or
Severe flank pain
Clammy skin, nausea, heamturia
101
Second most common type of bacterial infection (behind respiratory tract)
UTI
102
#1 cause of UTI
E. coli
103
Type of bacteria: E. coli
Gram - rod
| Lactose ferminter
104
Type of UTI: lower abdominal or back discomfort; burning and pain when urinating
Lower UTI
105
If lower UTI is not treated, what will form
Upper UTI
106
Type of UTI: shaking chills, moderate to high fever, look and feel sick
Upper UTI
107
How to diagnose a UTI
Urinalysis
| - leukocyte esterase, nitrites, blood and protein
108
If someone with a UTI has WBC casts, what type if UTI do they have
Upper UTI
109
Caused by diseases that produce proliferative inflammatory responses that allow loss of BLOOD into urine
Nephritic syndromes
110
Caused by disorders that increase the permeability of the glomerular capillary membrane, causing massive loss of PROTEIN in the urine
Nephrotic syndrome
111
Leading cause of chronic renal failure in the US
Glomerulonephritis
112
Characteristics include RBC casts, low GFR and oliguria
Glomerulonephritis
113
What will be in the urine in pts with nephritic syndrome
RBCs and RBC casts
| Limited proteinuria
114
Most common form of acute glomerulonephritis
Post streptococcal glomerulonephritis
115
When do symptoms usually begin with acute glomerulonephritis
1-3 weeks after infection (usually upper respiratory tract infection or pharyngitis)
116
Signs and symptoms of acute glomerulonephritis
Proteinuria (limited)
Heamturia (cola colored urine)
Hypertension
Edema
117
What percentage of children recover completely from acute glomerulonephritis
95%
118
What percentage of adults recover completely from acute glomerulonephritis
60%
| - the rest have permanent kidney damage
119
Disorder that leaks large amounts of protein
Nephrotic syndrome
120
What are levels of certain substances in nephrotic syndrome
```
Massive proteinuria
Hypoalbuminemia
Hypogammagloulinemia
Hypercoagulable (loss of AT3, so high risk of throwing a clot)
Hyperlipidemia
```
121
Diabetic glomerulosclerosis is also known as
Diabetic nephropathy
122
Nephropathy affects how many t1d patients
30%
123
What is an important predictor of future diabetic nephropathies
Microalbuminuria
124
What is pyelonephritis
Inflammation of kidney
125
Acute pyelonephritis is caused by
UTIs with gram - rods
| - #1 cause is E. Coli
126
If pt has WBC casts
Pyelonephritis
127
If pt has RBC casts
Glomerulonephritis
128
What can drugs and toxic substances do to the kidneys
Obstruct urine flow
| Produce hypersensitivity reactions
129
3 causes of acute renal failure
- dec blood to the kidney (prerenal)
- disrupt the structures in the kidney (intrarenal)
- interfere with elimination of urine (postrenal)
130
What is a very common nephrotoxic drug
Aminoclycosides (gentamicin)
131
Number 1 cause of chronic renal failure
Diabetes
132
4 stages of chronic renal failure in order
Diminished renal reserve
Renal insufficiency
Renal failure
End stage renal disease
133
GFR is reduced to what in renal insufficiency
20-50% of normal
134
GFR is reduced to what in renal failure
5-15% of normal
135
GFR is reduced to what in end stage renal disease
<5% of normal
136
When do uremia, anemia and HTN begin to appear in chronic renal failure
Renal insufficiency
137
Most common type of kidney stone
Calcium oxalate
138
Earliest indicator of kidney damage in diabetes
Microalbuminuria
139
Leading cause of fetal complications
Preeclampsia
140
Leading cause of maternal mortality in the 1st trimester
Ectopic pregnancy
141
2nd leading cause of maternal death
Eclampsia
142
Characterized as a pregnant woman with HTN and protein in the urine
Preeclampsia
143
Characterized by a pregnant woman with HTN, protein in the urine and having seizures
Eclampsia
144
What must the pregnant pts blood pressure be to be considered high
140/90 or higher
145
An pregnancy when the fertilized ovum implants outside of the intrauterine cavity
Ectopic pregnancy
146
Where does implantation normally occur with ectopic pregnancies
95% int he Fallopian tubes
147
How often should beta-hCG double during a normal pregnancy
Every 2 days
148
What does a lack of doubling of beta-hCG during pregnancy mean
It is an abnormal pregnancy
149
An intrauterine gestational sac should be visible via TRANSVAGINA ultrasound when beta-hCG goes above what concentration
>1,500
150
An intrauterine gestational sac should be visible via ABDOMINAL ultrasound when beta-hCG goes above what concentration
>6,500
151
Most common risk factor for ectopic pregnancy
Pelvic inflammatory disease
152
What is gestational diabetes
HTN during pregnancy
| - high blood sugar affects pregnancy and the baby’s health
153
4 complications to the baby in regards to gestational diabetes
- increased size/birthweight (can wedge in birth canal and cause injuries or require C section)
- early birth because of respiratory distress syndrome
- low blood sugar because insulin production is high (can provoke seizures)
- T2D later in life
154
2 risks of gestational diabetes to the mother
- HTN + preeclampsia
| - future T2D
155
How does BPH cause problems
Bigger prostate with pinch the urethra and the bladder wall will thicken
Bladder weakens and cannot empty as well —> leads to increase in urination frequency (>8 x a day) and incontinence
156
Blood tests used to screen for BPH
-PSA blood test
-creatinine
-BUN
-HGB
(Also a urinalysis)
157
6 complications of BPH
- acute or chronic urinary retention
- blood in urine
- UTIs
- bladder damage
- kidney damage
- bladder stones
158
2 CNs in the pupillary light reflex
In on 2
| Out on 3
159
What is the pathway in the pupillary light reflex
- Shining light into 1 eye activates the sensory arc through optic tracts bilaterally to pretectal nucleus
- each pretectal nucleus sens bilateral projects to left and right EW nucleus
- parasym in left and right ciliary ganglion activate constrictor in both eyes
160
If there is a lesion to the right optic nerve, what will the deficit with pupil testing
When the light is shined into left eye, there will be a consensual response in the right
When the light is shined into the right eye, there will be no response in either eye
**sensory arc is damaged so neither eye will react when shined into the ipsilateral eye
161
If there is a lesion to the right optic tract, what will the deficit with pupil testing
There will still be a normal direct and consensual response because you haven’t completely knocked out the sensory arc
162
If there is a lesion to the right oculomotor nerve (CN3), what will the deficit with pupil testing
It is now a motor issue, so the right eye will never constrict (in direct or consensual), however, it does sense the light, so the left will consensually response when shined into the affected eye
163
Abnormally asymmetrically sized pupils
Anisocoria
164
What can opiate drugs do to they eye
Directly inhibiting the dilator muscle —> pinpoint pupils bilaterally
165
What is a Marcus-Gunn pupil
- afferent pupillary defect (APD)
- Impaired sensory arc
- ipsilateral impairment of both direct and consensual (when shined on affected side, neither eye dilates, but when shined on unaffected side, both eyes constrict)
166
Where is damage if a pt has an APD (Marcus-Gunn pupil)
ON or retina
167
Impaired constriction to light and accommodation
Acute adie’s pupil
168
Due to partial degeneration of ciliary ganglion or post-gang parasym fibers, possibly due to inflammatory damage
Acute adies pupil
169
Impaired constriction to light, but still constricts with accommodation
Chronic adie’s pupil
170
Involved ectopic reinnervation of iris by parasym projections that normal target the ciliary body
Chronic adie’s pupil
171
Impairment in light reflex but with preserved accommodation response is known as
Light-near dissociation
172
Conditions where light-near dissociation occurs
- Adie’s pupil
- neurosyphillis, accompanied by irregular shaped pupils (argyll-Robertson pupil)
- some diabetics
- parinaud’s syndrome
173
Damage to any part of the motor pathway involved in pupillary dilation will result in
Horner’s syndrome
174
How to test for horner’s syndrome
Local application of cocaine drops
| - dilate the intact side, but fail to dilate the ipsilateral/affected side bc no NE is being released
175
2 major lesion sites that may cause horner’s syndrome
- Lateral pons infarct
| - lateral medulla infarct
176
Ischemia of the anterior ON (part in the orbit)
Anterior ischemic optic neuropathy (AION)
177
A common cause of sudden vision loss
AION
178
Does a pt have pain in AION
No
179
What will be seen on an ophthalmic exam in a pt with AION
Small C/D ration
180
A common precursor to MS
Optic neuritis
181
Inflammatory de-myelination of ON
Optic neuritis
182
3 possible etiological of Optic neuritis
- Inflammatory process from viral infection
- pro-inflammatory chemical exposure
- vit B12 deficiency
183
Presentation of Optic neuritis
Monocular vision loss with eye pain
184
Visual loss in Optic neuritis
Central scotoma, reduced acutiy, impaired color detection
185
What will be seen in ophthalmic exam of a pt with Optic neuritis
Swollen and inflamed
OR
Normal
APD
186
EEG recording in a pt with Optic neuritis
Long latency with normal amplitude because of the demyelination
187
Temporal profile of Optic neuritis
- variable onset (age 30-45)
- acute, subacute, chronic
- duration <2wks with partial/full recovery (may take 6 weeks to months)
- 1/3 of pts have more than 1 recurrence
188
Reasons to suspect a differential diagnosis from Optic neuritis
- over 45
- no pain
- bilateral vision loss
- 1st episode lasting >2 weeks
189
Tx of Optic neuritis
Glucocorticoids
190
Autoimmune de-myelinating disorder of the CNS
MS
191
Autoimmune attack against oligodendrocytes by T-lymphocytes
MS
192
Presentation of MS
- multi focal
| - 2+ attached separated in time (>1 month apart)
193
Epidemiology of MS
- 20-40 yo
- females
- Caucasian’s in higher latitude regions
194
Diagnostic criteria and confirmation of MS
- MRI with contrast showing 2+ white matter plaques (fingers extending from periventricular zones)
- CSF analysis: oligoclonal bands (have elevated lymphocytes and high levels of IgG)
195
Why is there oculomotor deficits seen in pts with MS
Lesion of MLF
- MR of ipsilateral eye doesn’t work
- nystagmus on contralateral side with LR is used
196
Short term treatment of MS
Glucocorticoids
197
Long term treatment of MS
Selective immunodulatory agents
- 1st line: interferons
- 2nd line: monoclonal Abs or chemotherapeutics
198
Factors that can trigger or intensify an attack in MS
- infection
- heat
- dehydration
- sleep deprivation
199
De-myelination of ON and spinal cord
Neuromyelitis optica (NMO)
200
Presentation of NMO
Bilateral vision loss, level down sensory and motor deficits
201
Auto-immune attach involving Abs to aquaporin-4
NMO
202
Viral infection of oligodendrocytes
| - rarely symptomatic, but can lead to this
Progressive multifocal leukoencephalopathy
203
Temporal profile of Progressive multifocal leukoencephalopathy
- subacute and progressive
- can be fatal
- visual deficits, aphasia, unilateral weakness
- can lead to dementia
- no pain
204
Myelination formation is impaired or the myelin is structurally and functionally defective
Leukodystrophies
205
Inflammatory de-myelination of CNS, often with gray matter damage and usually happens after an infection or vaccination
Acute disseminated encephalomyelitis (ADEM)
206
ADEM can mimic what
Stroke or MS
207
Temporal profile for ADEM
- acute to subacute onset of chief complaint (similar to stroke)
208
Tx of ADEM
Glucocorticoids
209
Do most patients recover from ADEM
Yes
210
HA that is of urgent/emergency likely
Acute onset
211
Are subacute onset HA emergent
No
212
3 common forms of chronic onset HA
Tension
Cluster
Migraine
213
If a tension HA persists it can become
Chronic and stable
214
Pattern of a migraine
Irregular with variable remission periods
215
Pattern of cluster HA
Several daily bouts with long remission periods
216
Patter of brain tumors
Chronic/insidious onset with steady progression
| - can be asymptomatic until reaching threshold
217
Pain in cluster headaches
Unilateral
218
Ocular or retro-orbital HA are suggestive of
Ocular or nuerophthalmic causes
219
A focal HA can gisngal
Intracranial mass
220
Distribution of a tension HA
Band like or diffuse (bilateral)
221
Brain regions that tension HA are usually located
Frontal or occipital
222
Localization of cluster HA
Peri-orbital region
223
Localization of migraine HA
Hemi-cranial
224
More common, primary or secondary tumors
Secondary
225
Primary tumors come from
Glia, meninges, pituitary
226
Secondary tumors come from
Lung, breast, melanoma, prostate
227
Do post-natal CNS neurons go through mitosis
No
228
Tumors develop from cells that what
Undergo mitosis
229
Tumor type from pre natal neural stem cells
Neuroblastoma
230
Tumor type from developing cerebellum
Medulloblastoma
231
Tumor type from cerebral white matter
Oligodendroglioma
232
Tumor type from astrocytes
Astrocytoma or glioblastoma
233
Tumor type from ependymal cells
Ependymomas
234
Abs generated agains nicotinic ACh receptor
MG
235
What muscles are typically weak in MG
EOMs and levator palpebra
| - diplopia and ptosis
236
Ab-mediated autoimmune attack against Ca channels coupled to ACh
Lambert-Easton syndome
237
Are AChase Inhibitors useful in MG
Yes
238
Are AChase Inhibitors useful in lamber-Eaton syndrome
No, bc the problem is ACh release
239
Mutation in duchesse muscular dystrophy
Dystrophin
240
What muscles are most affected in duchesse muscular dystrophy
Proximal limb muscles
241
Period of abnormally and persistently elevated, expansive, or irritable mood and abnormally and perisistely increased activity or energy
Bipolar disorder
242
Pts must have 3+ of the following 7 symptoms during their mood disturbance
- inflated self esteem
- decreased need for sleep
- more talkative
- racing thoughts
- distractibility
- increase in goal-directed activity
- excessive involvement in activities with a potential for painful consequences
243
Main treatment for bipolar disorder
Lithium
244
An alternative treatment for bipolar disorder
Anti-psychotics or anti-depressants
245
Weight for height index used to classify weight status
BMI
246
What amounts of adults are overweight/obese
2/3
247
What amount of adults are obese
1/3
248
What amount of adults are extremely obese
1/20
249
What amount of children are overweight or obese
1/3
250
BMI range for healthy
18.5 -24.9
251
BMI range for obese
30-39.9
252
BMI range of overweight
25-29.9
253
BMI of extremely obese
>/= 40
254
2 Top health risks that are greatly increased by obesity
Diabetes
Gall bladder disease
(And Dyslipidemia)
255
Top health risk that is moderately increased by obesity
Coronary heart disease
256
Why are monounsaturated fats considered more healthy than polyunsaturated fats
Because they have a higher HDL value
| Both have low chol and low LDL, but polyunsaturated has low HDL and monounsaturated has high HDL
257
Loss of control over eating and eating large amounts of food discreetly at least 1x a week
Binge eating
258
Diagnostic criteria for anorexia
- significantly low body weight
- intense fear of gaining weigh or becoming fat
- amenorrhea (a sense of menstration)
- bad self perception
259
Type of anorexia: starving
Restricting
260
Type of anorexia: blends with bulimia
Purging
261
Personality traits that contribute to anorexia
- extreme perfectionist
- OCD
- low self esteem
- high achiever
- anxiety
- depression
- cognitive impairment
262
2 major complications of anorexia
Bradycardia and cardiac dysrhythmias
263
Female athlete triad
Eating disorder
Amenstrual
Osteoporosis
264
Diagnostic criteria of bulimia
- recurrent episodes of bing eating (lack of control)
| - recurrent inappropriate compensatory behaviors (vomiting, laxative/diuretic abuse, fasting or excessive exercise)
265
Type of bulimia: vomiting and misuse of laxatives/diuretics
Purging
266
2 major complications from vomiting-related bulimia
- Low of enamel and dentin
| - fluid and electrolyte disorders
267
Which eating disorder is most likely associated with a Mallory-Weiss tear
Bulimia
268
Which eating disorder has the highest mortality rate
Anorexia nervosa
269
Inadequate intake of both protein and calories
Marasmus
270
Dietary deficiency of protein only
Kwashiokor
271
Age of onset of kwashiorkor
Pre school (1-5 yo)
272
Age of onset of marasmus
Weaned infants (<1 yo)
273
What is ascites
Abdominal swelling
274
Which malnutrition disorder will have ascites
Kwashiorkor
275
What type of genetic disorder is: marfans
Autosomal dominant
276
What type of genetic disorder is: neurofibromatosis
Autosomal dominant
277
What type of genetic disorder is: familial adenomatous polyposis (FAP)
Autosomal dominant
278
What type of genetic disorder is: hemophilia a
Mothers are carriers and pass to their son
279
What is CHRPE
Congenital hypertrophy of theretinal pigment epithelium
280
What are bear tracks
Multiple areas of grouped retinal pigment epithelium hypertrophy
281
Ocular hallmark of familial adednomatous polyposis (FAP)
4+ bear tracks in multiple areas
282
What mutation causes bear tracks to be autosomal dominant and not recessive
Mutation of APC hydroxylase gene
283
Inheritance of a single mutation results in a given condition
Autosomal dominant
284
Inheritance of 2 mutations results in a given condition
Autosomal recessive
285
Inheritance limited to the inheritance of the affected X chromosome
X linked (sex linked)
286
Disorders often involve structural proteins and usually appears later in life
Autosomal dominant disorders
287
Chance of inheritance of autosomal dominant disorders
50%
288
Chance of inheritance of autosomal recessive
25%
289
Autosomal recessive disorders often involve disorders of
Enzymes
290
What mutation causes bear tracks to be autosomal recessive and not dominant
MYH glycosylase gene
291
Are females usually affected by x linked disorders
No
292
Color blind and hemophilia a are examples of
X linked disorders
293
Factor 8 clotting factor deficiency
Hemophilia a
294
Monosomy
A missing chromosome
295
Trisomy
An extra chromosome
296
Triploidy
And extra copy of all chromosomes
297
Chromosomes break and swap pieces
Translocations
298
Loss of genetic material
Deletions
299
Chromosome breaks and piece reattached in opposite orientation
Inversions
300
Agents associated with causing abnormalities during embryonic/fetal development (harmful to fetus)
Teratogens
301
Period of embryonic development when teratogens are most likely to cause major congenital anomalies
1st trimester
302
What is karnofsky’s law
Anything at the right time of pregnancy, at the right dosage, in the right species can be teratogenic
303
Maternal infections that can be teratogenic (TORCH)
```
Toxoplasmosis
Other
Rubella
Cytomegalovirus
Herpes
```
304
Primary risk of a deficiency of folic acid during pregnancy
Teratogenicity
- neural tube defects
(Affect both mom and fetus)
305
- uses fluid
- performed after 1st trimester
- less invasive than CVS
Amniocentesis
306
- uses tissues
- performed during first trimester
- invasive
Chorionic villi sampling (CVS)
307
Characterized by disfiguring neurofibromas and 6+ areas of dark pigment
Neurofibromatosis 1
308
Criteria of fetal alcohol syndrome
- growth retardation
- CNS involvement
- dysmorphic facial features (short palpebral fissures, thin upper lip, elongated and flattened midface)
309
Top 3 methods used for fetal diagnosis
Ultrasound
Amniocentesis
CVS
310
Age related hearing loss
Presbycusis
311
Most common condition that affects both vision and hearing
Usher syndrome
312
Toddlers do this to a line and preschoolers do it to a circle
Draw
313
Locomotion of a toddler
Walk
314
An eye problem observed in usher’s syndrome
Retinitis pigmentosa
315
Out of sight, out of mind observed in infants <9mo
Permanence
316
An infant can do this to ID an object of interest
Point
317
What sounds are you less able to detect/discriminate when presbycusis
Sounds in the higher frequency range
318
The perception of motion caused by a dysfunction of the vestibular system
Vertigo
319
Pt feels like the world is spinning
Objective vertigo
320
Pt feels that they are moving
Subjective vertigo
321
The perception of a sound in your ears in the absence of an externally applied stimulus (ringing in the ear)
Tinnitus
322
Is the cause of 10% of hereditary deafness
Usher’s syndrome
323
Infection of inflammation of the ear (ear infection)
Otitis media
324
Age range: first stand
Infant
325
Age range: points to objects
Infant
326
Age range: object permanence
Infant
327
Age range: take first steps
Toddler
328
Age range: kicks ball
Toddler
329
Age range: feeds itself
Toddler
330
Age range: drive tricycle
Preschool
331
Age range: draw stick figures
Preschool
332
Age range: have friends and can play with them
Preschool
333
Age range: can tell detailed stories (legends)
Preschool
