Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Unit 4 disease charts > 4.2 part 2 > Flashcards

4.2 part 2 Flashcards

You may prefer our related Brainscape-certified flashcards:
WSET ® Level 4 D2 Business of Wine flashcards
1
Q

abnormal placenta placement over or close to the internal cervical os

A

placenta previa

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

complete placenta previa

A

complete coverage of cervical os by placenta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

partial placenta previa

A

partial coverage of cervical os by the placenta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

marginal placenta previa

A

adjacent to the internal os (leading edge of the placenta is < 2 cm from the internal os)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

risk factors for placenta previa

A

previous placenta previa
previous c-section
multipara
multiple gestations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

clinical manifestations of placenta previa

A

sudden onset of painless vaginal bleeding in the third trimester (may be bright red) after 24 weeks

ABSENCE OF ABDOMINAL PAIN OR UTERUS TENDERNESS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

should you perform digital vaginal or speculum exam if placenta previa is suspected?

A

NO NEVER

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Diagnosis of placenta previa

A

transabdominal ultrasound with confirmation by transvaginal ultrasound

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

what is preferred in complete, major degrees, and with fetal distress

A

C-section

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

partial or complete premature separation of the placenta from the uterine wall after 20 weeks gestation but prior to delivery of the fetus

A

abruptio placentae

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Most common risk factor associated with abruptio placentae

A

maternal hypertension

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

other risk factors associated with abrupt placentae

A

prior abruption, smoking, cocaine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

clinical manifestations of abruption placentae

A

sudden onset of uterine bleeding – painful third trimester vaginal bleeding (often dark red) – can be either external or concealed, severe abdominal pain (uterine contractions)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

what will you see on PE for abruptio placentae

A

tender rigid uterus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Should a pelvic exam be performed if abruptio placentae is suspected

A

NO NEVER

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Think PP and AA

A

Previa is Painless
Abruptio is associated with Abdominal pain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

fetal vessels are present over the cervical os

A

vasa previa

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

triad for vasa previa

A

rupture of membranes
painless, vaginal bleeding
fetal distress (bradycardia)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Management for vasa previa

A

delivery immediately via C-section

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

abnormal adherence of placenta to myometrium

A

placenta accreta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

placenta grows at least halfway through the uterine wall and attaches to uterine muscle

A

placenta increta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

placenta grows completely through uterine wall

A

placenta percreta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

1st trimester

A

week 1 to week 12

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

2nd trimester

A

week 13 to week 26

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

third trimester

A

week 27 through end of pregnancy (40 weeks)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

gestational age

A

measured from first day of last menstrual period

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

fetal age

A

2 weeks after gestational age; calculated from date of conception

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

mullerian ducts fuse together to form

A

uterus, Fallopian tubes, majority of vagina

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

mullerian anomalies

A

septate uterus
bicornuate uterus
unicornuate uterus
uterine didelphys

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

the external shape of the uterus is normal, but the cavity is divided by an extra wall of tissue called a septum, which runs down the middle of the cavity

A

septate uterus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

the external shape of the uterus is abnormal with a large indentation in the funds which causes the upper cavity to further divide into two cavities

A

bicornuate uterus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

only half of the uterus develops

A

unicornuate uterus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

the entire uterus and cervix is duplicated which creates two uteri and 2 cervices

A

uterine didelphys

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

two Müllerian ducts only partially fusing together

A

bicornuate uterus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

only one Müllerian duct develops

A

unicornuate uterus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

two Müllerian ducts not fusing together at all

A

uterine didelphys

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

a pregnancy that ends before 20 weeks gestation

A

spontaneous abortion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

almost 80% of spontaneous abortions occur prior to

A

12 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

what is the only type of spontaneous abortion that is potentially viable

A

threatened

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

most common cause of spontaneous abortion

A

chromosomal abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

clinical manifestations of spontaneous abortion

A

crampy abdominal pain and vaginal bleeding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Ultrasound and cervical findings for threatened

A

products of conception intact
cervical os closed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

management for threatened

A

observation at home, bedrest, close follow up

serial beta hCG to see if doubling if viable

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

US and cervical findings in inevitable

A

products of conception intact
cervical os DILATED

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

management for inevitable

A

surgical evacuation
-D&C <16 weeks or dilation and evacuation > 16 weeks

Misoprostol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

US and cervical findings for incomplete

A

some products of conception expelled
cervical os DILATED

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

management for incomplete

A

allow POC to fully pass
D&C <16 weeks or dilation and evacuation > 16 weeks

Misoprostol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

US and cervical findings for complete

A

all products of conception expelled from uterus
cervical os usually closed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

management for complete

A

RhoGAM if Rh negative
follow up beta hCG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

US and cervical findings for missed

A

products of conception intact
cervical os closed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

management for missed

A

dilation and curettage < 16 weeks or dilation and evacuation > 16 weeks

Misoprostol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

US and cervical findings for septic

A

some products of conception retained
cervical os closed
CERVICAL MOTION TENDERNESS
Foul brown discharge, fever, chills

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Management for septic

A

D&E to remove products of conception + broad spectrum antibiotics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

severe excessive form of morning sickles with weight loss and electrolyte imbalance

A

Hyperemesis gravidarum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

when does hyperemesis gravid arum usually develop and persist

A

develops during 1st or 2nd trimester and persists > 16 weeks gestation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

Clinical manifestations of hyperemesis gravidarum

A

weight loss of 5% of pre-pregnant weight and acidosis (from starvation)

hypokalemia, hypochloremic metabolic alkalosis, ketones

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

Initial management of choice for hyperemesis gravidarum

A

ginger
small and frequent meals
avoid trigger foods
increase fluids

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

first line medical management for hyperemesis gravidarum

A

pyridoxine (vitamin B6) with or without doxylamine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

benign cysts that form due to malformation of lymphatic system

A

cystic hygroma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

where are cystic hygromas most commonly found

A

posterior triangle of the neck

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

abnormal interstitial fluid collection in 2 or more compartments of FETUS

A

fetal hydrops

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

most common serious medical condition seen in pregnancy

A

pyelonephritis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

when should ALL pregnant women be screen for asymptomatic bacteriuria

A

first prenatal visit – clean catch!!!!!!!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

most common organism for UTI in pregnancy

A

E. coli

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

when should pregnant patients follow up after UTI treatment

A

2-4 weeks after treatment for follow up culture to see if reinfection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

gestational HTN

A

BP >/= 140/90 without protein in urine or other organ damage that develops after 20 weeks of gestation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

when should true gestational HTN resolve

A

by 12 weeks postpartum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

gestational HTN + proteinuria or end organ dysfunction

A

preeclampsia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

preeclampsia with severe features (any of the following)

A

SBP >/= 160 and/or DBP >/= 110 + proteinuria at least 5 g in a 24 hour urine specimen
thrombocytopenia
impaired liver function (may have severe/persistent epigastric or RUQ pain)
progressive renal insufficiency
pulmonary edema or peripheral edema
vertebral or visual disturbances
HELLP syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

management for preeclampsia without severe features

A

delivery at 37 weeks
expectant management until 37 weeks
corticosteroids for fetal lung maturity prior to 34 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

management of preeclampsia with severe features

A

DELIVERY due to maternal morbidity
antihypertensive therapy
magnesium sulfate for seizure prophylaxis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

what is NOT recommended in management of preeclampsia without severe features

A

antihypertensives
bed rest
magnesium sulfate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

definitive treatment of preeclampsia

A

delivery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

amniotic fluid abnormalities

A

oligohydramnios
polyhydramnios

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

decreased amniotic fluid surrounding fetus

A

oligohydramnios

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q

what makes up most of amniotic fluid

A

fetal urine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

two most common causes of oligohydramnios

A

too little fetal urine due to fetal kidney disease
amniotic fluid loss due to rupture of membranes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
78
Q

clinical manifestations of oligohydramnios

A

uterine size/fundal heigh less than expected
easily palpated fetus
decreased fetal movement

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
79
Q

diagnosis of oligohydramnios

A

US for amniotic fluid index (AFI)
AFI < 5 cm or single deepest pocket < 2 cm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
80
Q

treatment of oligohydramnios

A

maternal hydration
amnioinfusion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
81
Q

excessive amniotic fluid amount surrounding fetus

A

polyhydramnios

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
82
Q

causes of polyhydramnios

A

increased placental blood flow
increased fetal urine production
decreased amniotic fluid swallowing/absorption

83
Q

clinical manifestations of polyhydramnios

A

uterine size/fundal heigh greater than expected
difficulty palpating fetal parts

84
Q

diagnosis of polyhydramnios

A

US using AFI
AFI >/= 24 cm or single deepest pocket >/= 8 cm

85
Q

Treatment for polyhydramnios

A

Indomethacin
Amnioreduction or amniotic fluid removal
if not severe, continue to monitor

86
Q

what can result for oligohydramnios

A

potter sequence

87
Q

what is the potter sequence

A

pulmonary hypoplasia
oligohydramnios
twisted skin
twisted face
extremity malformation
renal agenesis

88
Q

2 most common types of neural tube defects

A

spina bifida
anencephaly

89
Q

increased incidence of neural tube defects is associated with

A

maternal folate deficiency

90
Q

most common type of spina bifida

A

spina bifida with myelomeningocele

91
Q

mildest form of spina bifida

A

spina bifida occulta

92
Q

screening for NTD

A

increased maternal serum alpha-fetoprotein followed by amniocentesis showing increased ALPHA-FETOPROTEIN and increased ACETYLCHOLINESTERASE

93
Q

is there dilation of the cervix in Braxton hicks contractions

A

NO NO NO NO

94
Q

when could Braxton hicks contractions start

A

6 weeks gestation

95
Q

do Braxton hicks contractions get closer together

A

NOOOOOO

96
Q

rule of thumb for Braxton hicks contractions

A

if you can sleep through them, it ain’t true labor

97
Q

direct measurement of surfactant production by type 2 pneumocytes

A

lamellar body count

98
Q

normal value for lamellar body count

A

> 30,000; 100% chance that infants lungs are mature enough to not experience RDS

99
Q

Lecithin/sphingomyelin (L/S) ratio

A

measures phospholipids in amniotic fluid

L/S ratio of 2:1 or greater is highly indicative that fetal lungs and fetus are mature

100
Q

when are baby’s lungs usually fully developed

A

35-36 weeks

101
Q

preterm prelabor

A

regular uterine contractions >4-6/hour + progressive cervical effacement and dilation between 20-36 weeks gestation

102
Q

what is cervical effacement

A

when the cervix thin, softens, and shortens

103
Q

clinical manifestations of preterm prelabor

A

nonspecific – menstrual like cramping, low back pain, pressure in vagina, vaginal discharge of mucus

104
Q

what is it called when you see blood in vaginal discharge after mucus plug is gone lol

A

bloody show

105
Q

what supports diagnosis of preterm prelabor

A

cervical dilation > 3 cm in the presence of uterine contractions at 20 to 36+6 weeks and >80% effacement

106
Q

what is predictive of an increased risk for preterm birth in all populations

A

a short cervix less than 30 mm before 34 weeks gestation

107
Q

Lab eval for person in preterm prelabor

A

Rectovaginal group B culture
Urine culture for asymptomatic bacteriuria
Fetal fibronectin

108
Q

what is fetal fibronectin

A

a protein that keeps the amniotic sac glued to the uterus

testing helps differentiate between true and false labor

109
Q

management for preterm labor >/= 34 weeks

A

admission to give birth

110
Q

management for preterm labor < 34 weeks and cervical dilation 3 or more cm

A

delay delivery with tocolytic for up to 48 hours
antibiotics for group B strep if indicated
antenatal betamethasone for fetal lung maturity

111
Q

first line tocolytic for 32 weeks or less

A

indomethacin

112
Q

first line tocolytic for greater than 32 weeks

A

nifedipine

113
Q

normal fetal presentation

A

cephalic

114
Q

most common abnormal fetal presentation

A

occiput posterior presentation

115
Q

types of breech positions

A

frank
complete
incomplete

116
Q

frank breech position

A

hips flexed
knees flexed
feet by face

117
Q

complete breech position

A

hips flexed
knees flexed

118
Q

incomplete breech position

A

one or both hips partially flexed

119
Q

maneuver to turn baby from breech to cephalic presentation

A

external cephalic version
trial of vaginal delivery if successful
C-section if unsuccessful

120
Q

failure of the shoulders to spontaneously traverse the pelvis after delivery of the fetal head due to impaction

A

shoulder dystocia

121
Q

what shoulder is generally stuck behind the mother’s pubic bone in shoulder dystocia

A

anterior shoulder

122
Q

what shoulder is generally stuck behind the sacral promontory in shoulder dystocia

A

posterior shoulder

123
Q

common sign in shoulder dystocia

A

turtle sign; retraction of the baby’s head similar to a shoulder retracting into its shell

or red, puffy face

124
Q

most common risk factor of shoulder dystocia

A

macrocosmic infants of diabetics

125
Q

most common injuries associated with shoulder dystocia

A

brachial plexus injury (Erb’s palsy or Klumpke’s palsy)

126
Q

most common type of fracture that can occur with shoulder dystocia

A

clavicular fracture

127
Q

what maneuver is used for shoulder dystocia

A

McRoberts Maneuver

128
Q

McRoberts maneuver

A

hyper flexion of mom’s hips towards abdomen without and then with suprapubic pressure

episiotomy may need to be performed

129
Q

if McRoberts is unsuccessful, what maneuver can you do next

A

Wood’s corkscrew maneuver

130
Q

Wood’s corkscrew maneuver

A

rotation of the fetal shoulders 180 degrees

131
Q

if Woods corkscrew maneuver also fails, what can you do next

A

Zavanelli maneuver – push fetal head back into vaginal canal followed by c-section

132
Q

prevention of shoulder dystocia

A

schedule c-section birth at 39 weeks if macrosomic ( >/= 4500 grams)

133
Q

what maneuver is an initial choice for mom in a birthing bed with no or only local or pudendal anesthesia

A

Gaskin all-fours maneuver

134
Q

amniotic membrane rupture before the onset of labor or regular uterine contractions at or greater than 37 weeks

A

pre labor rupture of the membranes (PROM)

135
Q

common complications of PROM

A

chorioamnionitis or endometritis if prolonged >24 hours

136
Q

Clinical manifestations of PROM

A

gush of clear or pale yellow fluid!!!!!

or persistant leakage of fluid from the vaginal, vaginal discharge

137
Q

what will you see on sterile speculum exam for PROM

A

pooling of secretions in posterior fornix

138
Q

nitrazine paper test for PROM

A

turns blue if pH > 6.5

139
Q

Fern test for PROM

A

amniotic fluid dries in fern pattern due to crystallization of estrogen and amniotic fluid

140
Q

management of PROM

A

prompt induction of labor in patients with term PROM if no C/I to labor

141
Q

rupture of the amniotic membranes before the onset of labor occurring prior to 37 weeks

A

preterm pre labor rupture of membranes (PPROM)

142
Q

management of PPROM if <34 weeks

A

expectant management
betamethasone for fetal lung maturity
prophylactic antibiotics
hospitalization for entire period of expectant management

143
Q

management of PPROM if >/= 34 weeks

A

delivery if optimal gestational dating

144
Q

when is prompt delivery indicated in PPROM

A

if signs of maternal or fetal infection or distress

145
Q

how old does fetus have to be to be considered stillbirth

A

birth at 20 weeks or greater with no signs of life

146
Q

what is PAPP-A produced by

A

trophoblast; levels greater than 0.5 is normal

147
Q

what medications are commonly used in combination for abortion

A

Mifepristone + Misoprostol

148
Q

twins who have their own chorions and amniotic sac

A

dichorionic-diamniotic

149
Q

are dichorionic-diamniotic twins fraternal or identical

A

can be either

150
Q

are most twins fraternal or identical

A

fraternal

151
Q

share placenta but have own amniotic sac

A

monochorionic-diamniotic

152
Q

share placenta and amniotic sac

A

monochorionic-monoamniotic

153
Q

most common type of identical twin

A

monochorionic-diamniotic

154
Q

if split occurs 1-3 days after fertilization

A

dichorionic-diamniotic

155
Q

if split occurs 4-8 days after fertilization

A

monochorionic-diamniotic

156
Q

if split occurs 8-13 days after fertilization

A

monochorionic-monoamniotic

157
Q

if split occurs 13-15 days after fertilization

A

conjoined twins

158
Q

most common cause of hyperthyroidism in the US

A

graves disease

159
Q

iron supplementation in pregnancy

A

27 mg/day

160
Q

calcium supplement for all women regardless of pregnancy status

A

1000 mg/day

161
Q

variant of severe preeclampsia/eclampsia with hemolysis

A

HELLP syndrome

162
Q

HELLP syndrome

A

Hemolysis, Elevated Liver enzymes, Low Platelets

163
Q

when does HELLP most commonly occur

A

third trimester (27 weeks and beyond)

164
Q

diagnostic criteria for HELLP

A

hemolysis with LDH > 600
AST and ALT elevated more than 2x upper limit
Platelets <100,000

165
Q

prophylaxis of HELLP in future pregnancies

A

low dose aspirin

166
Q

Classic triad of amniotic fluid embolism

A

hypoxia
hypotension
coagulopathy

167
Q

Diagnostic criteria for amniotic fluid embolism

A
  1. Sudden cardiopulmonary collapse or hypotension (systolic blood pressure < 90 mmHg) with hypoxia (SpO2 < 90%)
  2. DIC
  3. Symptomatology either during labor or during placental delivery (or up to 30 minutes later)
  4. No fever
168
Q

fetal bradycardia

A

intermittent or persistent heart rate < 110 BPM

169
Q

most common gene related cause of intellectual disability and autism spectrum disorder

A

fragile X syndrome

170
Q

describe inheritance of fragile X syndrome

A

x linked dominant genetic disorder

171
Q

what gene is nonfunctional in fragile X syndrome

A

fragile X mental retardation gene (FMR1)

172
Q

clinical manifestations in young males for fragile X

A

MVP, hyper extensible joints, hypotonia, soft skin, flat feet, macrocephaly

173
Q

clinical manifestations in older males for fragile X

A

long and narrow face, prominent forehead and chin

LARGE EARS
MACRO-ORCHIDISM

174
Q

people with fragile x syndrome may have frequent bouts of

A

otitis media and sinusitis

175
Q

behavioral issues in fragile X syndrome

A

expressive language deficits
mild to moderate intellectual disability

176
Q

What will you see in genetic studies for fragile x syndrome

A

X chromosome in the q27 regions have repeating CGG segments

177
Q

most common cause of homocystinuria

A

MTHFR mutation

178
Q

what is increased in urine in someone with homocystinuria

A

homocysteine

179
Q

what type of amino acid is methionine

A

essential – we have to get it through our diet

180
Q

symptoms of homocystinuria

A

marfans habitus
pectus excavatum
pectus carinatum
valgus knees
kyphosis
near-sightedness
seizures
intellectual disability
TIAs due to atherosclerosis and thrombosis

181
Q

treatment for homocystinuria

A

diet high in B6, B12, folate, and cysteine

182
Q

most common cause of dwarfism

A

achondroplasia

183
Q

describe the inheritance of achondroplasia

A

autosomal dominant

184
Q

what gene is mutated in achondroplasia

A

FGFR3

185
Q

what bones are most commonly affected in achondroplasia

A

long bones like humerus and phalanges

186
Q

clinical manifestations of achondroplasia

A

disproportionate short statue (~4 feet)
long bone shortening with normal trunk
macrocephaly and frontal bossing and saddle nose
brachydactyly (short digits)
varus knees
accentuated lumbar lordosis

187
Q

when outstretched, what kind of “hand” do fingers make in achondroplasia

A

trident hand

188
Q

prenatal US for achondroplasia

A

skull width : femur width higher than normal

189
Q

most common skeletal dysplasia

A

achondroplasia

190
Q

genetic disorder where XY male does not respond to androgens

A

androgen insensitivity syndrome

191
Q

describe inheritance of androgen insensitivity syndrome

A

x linked recessive

192
Q

serum testosterone and DHT in androgen insensitivity syndrome

A

elevated

193
Q

umbilical cord extends past the presenting part of the fetus and protrudes into the vagina

A

umbilical cord prolapse

194
Q

clinical manifestations of umbilical cord prolapse

A

sudden onset of severe, prolonged fetal bradycardia or moderate to severe variable decelerations after a previously normal tracing

195
Q

management of umbilical cord prolapse

A

emergent c-section

196
Q

overt prolapse

A

when the cord exits the cervix BEFORE the fetal passing part

197
Q

occult prolapse

A

when the cord exits the cervix WITH the fetal passing part

198
Q

until delivery is possible, what should you do for umbilical cord prolapse

A

funic decompression –> relieving pressure on the card by lifting the fetal presentation part

199
Q

loop of umbilical cord around fetal neck

A

nuchal cord

200
Q

inability to maintain pregnancy secondary to premature cervical dilation

A

cervical insufficiency/incompetent cervix

201
Q

when is cervical insufficiency most likely to occur v important

A

2nd trimester!!!!!

202
Q

clinical manifestations of cervical insufficiency

A

usually asymptomatic

painless dilation and effacement of cervix on PE

203
Q

Diagnosis of cervical insufficiency

A

transvaginal US; cervical length 25 mm or less before 24 weeks!!!!!

204
Q

Management of cervical insufficiency

A

cerclage – suturing of cervical os and bed rest if prior history

may also use weekly injection of 17 alpha-hydroxyprogesterone

Unit 4 disease charts (9 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions