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Exam stuff Flashcards

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1
Q

Three types of prenatal abnormalities?

A

anatomic, chromosomal, genetic

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2
Q

% of births with single gene mutation?

A

1%

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3
Q

Example of population based approach to screening?
Specific population subgroup?
Highly targeted?

A

Neural tube, Down Syndrome
thalassemia
hemophilia

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4
Q

Indications for invasive diagnx?

A 
Mom 35 or older at due date
Positive aneuploidy tets (US or biochem)
Abnormal US finding
Previous affected child
Known parental chromosome rearrangement
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5
Q

Tay Sachs enzyme defic?

A

hexosaminidase A

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6
Q

CF gene mutation?

A

75% is DF508 three amino acid deletion resulting in loss of phenylalanine

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7
Q

Why does advanced maternal age increase chance of trisomy?

A

Meiotic nondisjunction events

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8
Q

Fertility of men and women with Down?

A

Men no, women yes, 30% kids have Down

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9
Q

MS-AFP in neural tube defect vs Down

A

high in neural tube, low in trisomies (NOINVASIVE TEST)

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10
Q

hCG and inhibin A in Down v T18?

A

Both increased in down, low hCG in T18 (inhibin A not used in T18)

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11
Q

Neural tube defect prevention?

A

Folic acid supplementation 3 months before conception through first trimester

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12
Q

Free DNA test? When and good for what? Which chromosomes?

A

10 weeks, Rho status of fetus, not diagnostic but to prevent invasive tests, 13, 18, 21, X, Y

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13
Q

First see fetus on US when?

A

6 weeks - CROWN RUMP USED IN FIRST TRIMESTER for gestational age

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14
Q

When for nuchal translucency? What looking for?

A

10-14 weeks - (after 14 lymphatic system can drain)

Trisomic have increased nuchal thickness

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15
Q

When for amniocentesis?

A

14-20 weeks

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16
Q

When for chronic villus sampling? Higher or lower rate of fetal loss than amniocent?

A

9.5-12.5 weeks, HIGHER

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17
Q

Critical period

A

specific stage in development when certain types of behavior are shaped and molded for life

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18
Q

Sensitive period

A

time when developing system is more amenable to certain abilites, stimuli, environmental factors that have long term impact on development; when exposure is sufficient for teaching, rather than trying to learn

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19
Q

Freud’s stages

A

oral, anal, phallic, latency, genital

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20
Q

buzzword “system”

A

bronfenbenner

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21
Q

“sensorimotor/operation” buzzword

A

piaget

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22
Q

conflicts at each stage theory

A

Erikson

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23
Q

“moral/judgement” buzzword

A

Kohlberg

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24
Q

relationship with primary caregiver theory

A

bowlby

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25
Medical child abuse/Munchausen syndrome by proxy
caretaker simulates or creates disease in kid
26
most common cause of child abuse?
neglect
27
Do you have to report child abuse? To whom?
YES - even SUSPECTED. To Child welfare, cops, or child abuse hotline
28
Abuser who were abused?
Most abusers were abused, but most who were abused do not become abusers
29
Accidental skull fractures?
Single linear - the rest are not accidental!
30
Triggers?
Crying baby, pee/poo in older kids
31
Baby squeezed too hard?
Posterior bilateral calloused rib fractures
32
Metaphyseal fractures? Diagnostic?
Of abuse
33
Can subdurals be accidental?
NO
34
MAO activity?
Higher the level of activity, less likely to become antisocial
35
FosB and NE?
FosB knockout doesn't care about kids, cares again with NE
36
Human life span?
110 years
37
When do you start to decline?
20s-90
38
Near of farsighted as you get older?
FAR
39
Clock theory of aging vs Rust?
Clock = preprogrammed (telomeres, finite number of divisions) Rust - exposure to oxidative stress
40
Progeria mutation?
Lamin A (microfilament that there's chromosome to nuclear envelop - mutation leads to genome instability) premature aging - death in 10 years
41
Evidence for Clock theory?
Progeria, Werner's, again genes, familial longevity
42
Evidence for rust theory?
Lowering metabolic rate (by restrciting claories) increasess longevity ALSO aging known to be related to mutation in mtDNA
43
Effect of mTOR inhibition (rapamycin)
mimics caloric restirciton
44
Aging pathways
IGF-1, mTOR (nutrition sesning), energy metbolism (mt electron transport)
45
Fluoroquinolone with underlying health problems?
Same LD, lower MD
46
Macrolide with underlying health problems?
Same LD, same MD
47
Infant, Peds, Adolescent, Geriatric
>1, 1-11, 12-16, geriatric >65 (but really >75)
48
Md/T = ???
Cpss X Cl
49
Hepatic and renal metabolism change with development and age therefore ...
Cl changes, so you need to adjust MD to avoid underdosing or overdosing (NOT big change from kid to adult though, but big change form adult to geriatric)
50
Does Cpss change?
Nope! not generally
51
Order of CYP maturation?
1A, 3A, 2C, 2D
52
Renal/hepatic clearance in neonate?
Highly unpredictable
53
Drugs cleared more or less rapidly in kids than adults? Effect on MD?
More rapidly in kids, so MD must be higher (mg/kg)
54
Two drugs safe for kids?
Acetaminophen, Azithromycin
55
Reyes syndrome drug and DZ and sx??
Salicylate (ASA) with chicken pox, flu, gives fatty liver with acute encephalopathy
56
Geriatric changes?
EVERYTHING GOES DOWN (GFR, hepatic blood flow, enzyme activity)
57
Geriatrics: loading does change for water soluble vs lipid soluble drugs?
Water (digoxin, AGs, lithium): LOWER | Lipid (Chlordiazepoxide, Diazepam): HIGHER
58
Transferase activity faster or slower in geriatric?
NOT slower
59
Worst drugs for elderly?
Amitriptyline, diazepam, doxepin
60
When is the problem with VACTERL birth defects?
PRE-implantation as all the VACTERLs are in the same place then
61
Example of organogenesis happening in hierarchies?
SRY-->testes etc.
62
Fetal EtOH syndrome signs?
Asymmetric eyes, no filtrum, hirsute, neuro disorders (cannot make judgements, cannot drive)
63
Secretion and absorption of lung fluid driven by ...
secretion of Cl, absorption of Na
64
Surfactant stored in?
Lamellar bodies
65
How does surfactant keep air sacs open?
phospholipid hydrophobic tails repel each other
66
Treatment for secondary apnea?
CPAP
67
HR and BP during primary and secondary apnea?
relatively constant through primary, then begin to drop off with gasping, then decline quickly in secondary
68
What is key to cardiovascular transition? How?
LUNG INFLATION!! Drop in pulm resistance leads to increase in pulm blood flow which leads to increase of LA volume and closure of the foramen ovale AND increase in PaO2 which contsricts the ductus arteriosus
69
Baby with PPHTN looks like?
Red at top, cyanotic at bottom
70
Sx and treatment for hypoglycemic seizure?
Jitteryness! Give IV glucose
71
Gender difference greater within or between groups?
Within
72
Biggest driver of self worth?
Physical appearance
73
Biggest cause of death for adolescents?
Accident
74
Female puberty progression?
breast, pubic hair, peak height velocity, menarche (2 yrs after onset)
75
Male puberty progression?
gonads, pubic hair, peak height velocity (later than female so men are taller)
76
HE(2)ADS(3)
Home, Education/Employment, Eating, Activity, Drugs, Suicide(+Depression), Sexuality, Safety
77
Is Creatinine sufficient to assess renal fxn in geriatrics?
NO! check GFR
78
Acute MI sx in geriatrics?
Dyspnea NOT chest pain
79
Odd infx sx that are normal for geriatrics?
No leukocytosis, possible lack of fever
80
Most important principle for elderly?
HOW IS THE PATIENT DOING
81
Death rattle tx?
Anticholinergics, DON'T give IV fluids, DON'T give O2
82
Does patient starve to death?
NO - anorexia is part of the dying process
83
Do opioids hasten death?
NO
84
PSNS vs SNS in urination?
PSNS: pelvic, emptying (Contracts bladder) SNS: hypogastric, storage (expands)
85
Nerve that constricts sphincter?
Pudendal
86
B and a receptors in urination?
B in bladder to expand, a in urethra (sphincter) to contract
87
For continence, pressure differential?
Bladder pressure must be > urethra pressure
88
Part of brain reponsible for control of pissing?
Pontine micturition center, communicates with cerebral cortex and sends messages via hypogastric nerve
89
Storage and emptying NTs?
Storage: NE and 5HT Emptying: ACH (M3 receptor)
90
Biggest risk factor for female urinary incontinence?
Vaginal delivery
91
Levator ani (3)
puborectalis, pubococcygeus, ileococcygeus
92
Incontinence tx?
Fistula: surgery Kegels Anti-muscarinics (ADR dry mouth) Antispasmodics for urgency (Oxybutynin but not if glaucoma)
93
Types of incontinence?
Fistula (continuous leak) Overflow (overly full bladder with no urge to urinate) Urgency (strong/sudden) Stress (incr in intra abdominal pressure, leaking - eg with cough etc.)
94
Violence (domestic definition)
PATTERN of coercive behaviors in order to maintain CONTROL
95
Risk factors to be victim of violence?
Single, separated, divorced, pregnant, 20-24 yo
96
Obligation of physician in CO re violence?
MUST report acute injury from intimate violence to police
97
3 Post trauma signs?
hyperarousal/hypervigilance, intrusion, constriction (detachment/avoidance/denial etc.)

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