4.2 Flashcards
1
Q
what causes chancroid
A
haemophilus ducreyi
2
Q
what type of bacteria is haemophilus ducreyi
A
gram negative coccobacillus
3
Q
are genital ulcers painful or painless in chancroid
A
painful
4
Q
clinical manifestations of chancroid
A
painful genital ulcers
painful enlarged inguinal lymphadenopathy
^^ can liquefy and come fluctuant (bubo formation)
5
Q
why is chancroid usually a clinical diagnosis
A
difficult to culture
6
Q
what do you have to rule out before you can diagnose chancroid
A
syphilis and HSV
7
Q
is a minor who is pregnant emancipated
A
no
8
Q
what lab value can increase during pregnancy
A
WBC
9
Q
what lab values tend to decrease during pregnancy
A
RBC
Hgb
Hct
MCV (sometimes)
platelets can fluctuate
10
Q
is Tay Sachs autosomal or X-linked
A
autosomal
11
Q
is Tay Sachs dominant or recessive
A
recessive
12
Q
in what populations is Tay Sachs very popular
A
Ashkenazi Jewish
Eastern European
Cajuns in southern Louisiana
French Canadians
13
Q
what gene is mutated in Tay Sachs disease and what chromosome is it located on
A
HEXA gene on chromosome 15
14
Q
what is deficient in Tay Sachs disease
A
beta-hexosaminidase A
15
Q
what accumulates in the brain of a pt with Tay Sachs
A
gangliosides (lipids)
16
Q
common clinical manifestations of Tay Sachs
A
increased startle reaction
loss of motor skills
decreased eye contact
paralysis
blindness
developmental retardation
dementia
seizures
17
Q
when does death usually occur in Tay Sachs
A
3-4 years
18
Q
what will you see on retinal exam in someone with Tay Sachs
A
cherry red spots with macular pallor
19
Q
how to diagnose Tay Sachs disease
A
enzymatic assay –> low levels of beta hexosaminidase A
20
Q
management for Tay Sachs
A
no effective treatment
21
Q
what is the most common cause of hypothyroidism in the US
A
Hashimoto thyroiditis
22
Q
what are the two forms of Hashimoto thyroiditis
A
goitrous
atrophic
23
Q
what is goitrous Hashimoto thyroiditis
A
thyroid gland enlargement
24
Q
what is atrophic Hashimoto thyroiditis
A
minimal residual tissue
25
why might women with Hashimoto thyroiditis have galactorrhea
increased prolactin
26
is myxedema in Hashimoto thyroiditis pitting or nonpitting
nonpitting
27
common findings on PE in someone with Hashimoto thyroiditis
bradycardia
loss of outer 1/3 of eyebrows
28
what hormone is increased in Hashimoto thyroiditis
Thyroid stimulating hormone (TSH)
29
what is decreased in Hashimoto thyroiditis
free T4 and T3
30
what antibodies will you find to diagnose Hashimoto thyroiditis
Antithyroid peroxidase
Anti-thyroglobulin antibodies
31
what might you see on biopsy in Hashimoto thyroiditis
Hürthle cells and lymphocytic infiltration
32
how do you treat Hashimoto thyroiditis
Levothyroxine therapy
33
Neoplasm due to abnormal placental development with trophoblastic tissue proliferation
gestational trophoblastic disease (molar pregnancy)
34
are most molar pregnancies benign
yes (80%)
35
is a complete molar pregnancy diploid or triploid
diploid
36
is partial molar pregnancy diploid or triploid
triploid
37
describe complete molar pregnancy
empty (enucleated) egg with no DNA that is fertilized by 1 or 2 sperm
38
which type of molar pregnancy contains only paternal chromosomes
complete molar pregnancy
39
which type of molar pregnancy is associated with a higher risk of malignant development into choriocarcinoma
complete molar pregnancy
40
what is the most common type of molar pregnancy
complete molar pregnancy
41
describe partial molar pregnancy
an egg is fertilized by 2 sperm (or one sperm that duplicates its chromosomes)
42
is fetal tissue seen in partial molar pregnancy
yes it may be seen but it is always abnormal and not viable
43
risk factors for having molar pregnancy
prior molar pregnancy
extremes of maternal age <20 or >35
Asian
44
Clinical manifestations of molar pregnancy
painless vaginal bleeding
preeclampsia 6-16 weeks
hyperemesis gravidarum (due to elevated beta-hCG levels)
45
what will you see on PE in molar pregnancy
uterine size and date discrepancies (larger or smaller than expected)
often an enlarged uterus
46
diagnosis for molar pregnancy
Beta-hCG
Pelvic ultrasound
47
Beta-hCG levels in molar pregnancy
markedly elevated (>100,000 mIU/mL)
48
what will you see on pelvic ultrasound in molar pregnancy
complete - central heterogenous mass with multiple discrete anechoic spaces
"snowstorm" or "cluster or grapes" appearance
absence of fetal parts and heart sounds
49
treatment for molar pregnancy
surgical uterine evacuation ASAP to avoid risk of choriocarcinoma development
obtain chest radiograph to look for METS
50
most common site for METS for choriocarcinoma
lungs
51
cessation of menses > 1 year due to loss of ovarian function
menopause
52
loss of ovarian function in menopause leads to decreased
estrogen and progesterone production
53
average age of menopause in US
50-52
54
when is menopause considered premature
< 40 y (this is called primary ovarian insufficiency)
55
the time period preceding menopause when fertility wanes and menstrual cycle irregularity increases
perimenopause
56
estrogen deficiency leads to what clinical manifestations
hot flashes (MC symptom)
sleep disturbances
mood changes
57
what might you see on PE in someone who has undergone menopause
decreased bone density
dry and thin skin with decreased elasticity
vaginal atrophy with thin mucosa
decrease in breast size
58
most sensitive initial test for menopause
FSH assay
59
what will you see on FSH assay in someone who has undergone menopause
FSH > 30 IU/mL
60
what will be increased and what will be decreased for diagnosis of menopause
Increased LH
Decreased estrogen
61
do androstenedione levels change in menopause
NO
62
complications of menopause
osteoporosis
hyperlipidemia
increased cardiovascular risk
63
hormone replacement therapy in menopausal woman with uterus present
estrogen and progestin
64
hormone replacement therapy in menopausal women with no uterus present
estrogen only
65
group of X chromosome abnormalities characterized by loss of part of, all or, or nonfunctional X sex chromosome
Turner's syndrome
66
what is the most common sex chromosomal abnormality in females
Turner's syndrome
67
type of Turner's syndrome involving nonfunctioning X chromosome is due to
mosaicism
68
type of Turner's syndrome in which a total chromosome is missing
X monosomy
69
clinical manifestations of Turner's syndrome
gonadal dysgenesis (fibrosed/streaked ovaries --> ovarian failure --> unable to produce estrogen)
absence of breasts
infertility
70
what do you commonly see on PE in Turner's syndrome
short statue
webbed neck
broad chest with widely spaced nipples
"shield chest"
short 4th metacarpals and metatarsals
71
common cardiovascular findings in someone with Turner's syndrome
coarctation of aorta
bicuspid aortic valve
72
do parents have increased risk of having another child with Turner's syndrome
no; happens randomly
73
Diagnosis of Turner's syndrome
Karyotype - definitive
Primary hypogonadism (low estrogen + high LH and FSH)
74
Management for Turner's syndrome
Recombinant human growth hormone to increase height
Estradiol-progestin replacement therapy if no breast development between 11-12 y
75
genetic disorder seen in males with an extra, inactive X chromosome (47XXY)
Klinefelter's syndrome
76
do people with Klinefelter's have a normal appearance before puberty
YES
77
what might you see in infancy in Klinefelter's
micropenis or hypospadias
78
Common clinical manifestations of Klinefelter's
delayed puberty
tall stature (thin + long limbed with Eunochoid features)
hypogonadism --> small testes, gynecomastia, infertility, scarce pubic hair
79
common clinical feature in ADULTHOOD in someone with Klinefelter's
obesity
80
Diagnosis of Klinefelter's
Prenatal or postnatal karyotyping (47 XXY)
81
labs for primary gonadal failure in Klinefelter's
low or low-normal serum testosterone + increased FSH and LH (FSH > LH)
increased estradiol
82
management of Klinefelter's
supplemental testosterone can help w secondary characteristics
83
indications for amniocentesis
pregnant women > 35
assessment for fetal chromosomal disorder risk
84
when should amniocentesis be performed
15 weeks 0 days - 17 weeks 6 day gestation
85
12 week genetic testing in pregnancy
non-invasive prenatal testing (NIPT)
86
what is NIPT
cell free DNA from placental fetal cells circulates in maternal blood so we can grab that DNA and examine it for genetic mutations
87
when can NIPT be performed
as early as 10 weeks
88
if positive NIPT, what's next?
amniocentesis still gold standard
89
idiopathic disorder characterized by recurrent venous or arterial thromboses or small-vessel thrombosis due to antibodies against negatively-charged phospholipids
antiphospholipid syndrome
90
is antiphospholipid syndrome more common in men or women
women
91
VENOUS clinical manifestations in antiphospholipid syndrome
recurrent DVT (most common)
PE
92
ARTERIAL clinical manifestations of antiphospholipid syndrome
atherosclerosis
TIA
cerebrovascular accidents
recurrent fetal loss
93
pregnancy complications of antiphospholipid syndrome
spontaneous abortions at 10 weeks gestational age or older
premature birth > 35 weeks gestational age due to eclampsia
pre-eclampsia
placental insufficiency
3 or more spontaneous abortions < 10 weeks gestational age
94
common PE finding in antiphospholipid syndrome
livedo reticularis
95
Diagnosis of antiphospholipid syndrome
anticardiolipin antibodies
lupus anticoagulant
anti-beta2-glycoprotein
96
what antibody in APS is associated with false positive syphilis testing
anticardiolipin antibodies
97
PTT in vitro versus in vivo for antiphospholipid
increased PTT in vitro (in lab)
decreased PTT in vivo (in person) --> hyper coagulable state
98
lifelong therapy for non pregnant ppl with APS
Warfarin
99
therapy for pregnant ppl w APS
enoxaparin (LMWH)
100
is cystic fibrosis autosomal or X linked
autosomal
101
is cystic fibrosis recessive or dominant
recessive
102
in what population is cystic fibrosis most common
caucasians
northern europeans
103
what gene is mutated in cystic fibrosis
cystic fibrosis transmembrane conductance receptor (CFTR) gene
104
common clinical manifestation of cystic fibrosis in infancy
meconium ileus (delayed passage of meconium leading to obstruction of bowel by meconium in newborn infant)
105
most common type of bronchiectasis in the US
cystic fibrosis
106
most common colonizer of respiratory tract in cystic fibrosis in ADULTS
mucoid pseudomonas aeruginosa
107
most common colonizer of respiratory tract in cystic fibrosis in KIDS
non-mucoid pseudomonas aeruginosa
108
GI symptoms of cystic fibrosis
malabsorption of fat soluble vitamins (A,D,E,K)
109
why are males with cystic fibrosis infertile
azoospermia
95% will have congenital absence of vas deferens
110
diagnosis of cystic fibrosis
elevated sweat chloride
111
what diet should someone with cystic fibrosis follow
high fat diet with supplemental fat soluble vitamins (A,D,E,K)
112
what enzyme replacement is often needed in people with cystic fibrosis
pancreatic enzyme replacement
113
toxoplasmosis is caused by
toxoplasma gondii
114
what type of bacteria is toxoplasma gondii
obligate intracellular protozoa
115
how is toxoplasmosis transmitted
ingestion of infectious oocysts usually from soil or cat litter, food or water contaminated with feline feces, or undercooked meat from infected animal
116
primary infection in toxoplasmosis
mono-like infection with non-tender cervical lymphadenopathy
117
reactivation of toxoplasmosis
encephalitis
chorioretinitis
pneumonitis
myocarditis
118
most common presentation of toxoplasmosis in someone with AIDS
encephalitis
119
what is chorioretinitis
posterior uveitis --- eye pain, floaters, decreased visual acuity
120
serologies for toxoplasmosis
anti-toxoplasma IgG antibodies via ELISA
121
what will Neuroimaging show in toxoplasmosis
multiple necrotizing ring-enhancing lesions (these can also be seen in CNS lymphoma so this is nonspecific)
122
congenital toxoplasma infection
chorioretinitis
hydrocephalus
intracranial calcifications
123
serologies in congenital toxoplasma infection
anti-toxoplasma IgM antibodies
124
what is the leading cause of neonatal infection and major cause of sepsis in newborns
Group B strep
125
maternal complications of GBS infection
chorioamnionitis (inflammation of placenta)
preterm labor
asymptomatic bacteriuria
cystitis
pyelonephritis
126
screening for GBS according to ACOG
36 0/7 to 37 6/7 weeks gestation
127
2 exceptions to screening for GBS
women with bacteriuria during current pregnancy
women who previously gave birth to an infant with invasive GBS disease
*these women just need antibiotic prophylaxis period!!!
128
what prophylactic antibiotic should be given within 4 hours of delivery for those who test positive or were exceptions to screening
IV PCN G
129
what vital signs increase during pregnancy
cardiac output
systolic BP
diastolic BP
130
when can you begin to have nipple discharge during pregnancy
12-16 weeks
131
when does symphyseal-fungus heigh correlate with gestational age of fetus
after 20 weeks gestation
132
Hegar sign
softening of lower uterine segment
133
Goodell's sign
softening of cervix
134
Chadwick's sign
bluish color of cervix due to venous congestion
135
ballotment
examiner uses finger to tap against uterus causing fetus to "bounce" within amniotic fluid and feel it rebound quickly
136
how many extra calories needed during 1st trimester
0
137
how many extra calories needed during 2nd trimester
340
138
how many extra calories needed during 3rd trimester
450
139
weight gain during first trimester
1-5 pounds
or none at all
140
weight gain during second trimester
0.5 - 1 pound per week
141
weight gain during third trimester
0.5-1 pound per week
142
how much weight should healthy pregnant person gain during entire pregnancy
25-35 pounds
143
glucose intolerance or DM with consent or first recognition during pregancy
Gestational diabetes mellitus (GDM)
144
common risk factors for gestational DM
Fhx
Prior Hx
spontaneous abortion
history of infant > 4000 g at birth
multiple gestations
OBESITY
> 25 y
145
who is more at risk of developing gestational DM
African American women
146
what exacerbates maternal insulin resistance in gestational DM
human placental lactogen
147
most common fetal complication of gestational DM
fetal macrosomia
148
other fetal complications of gestational DM
preterm labor
neonatal hypoglycemia
neonatal hypocalcemia
149
what is the risk of developing type 2 DM after having gestational DM
50%
150
screening for gestational DM
step 1: 50-gram 1 hour glucose challenge test usually at 24-28 weeks gestation; if positive do 3 h glucose tolerance test
step 2: 100-gram 3 hour oral glucose tolerance test
151
When do we have Rh incompatibility
Rh negative mom
Rh positive baby
152
is Rhogam necessary if you are Rh positive
no
153
When should Rhogam be given
28 weeks pregnancy
If rh positive fetus, administered again within 72 hours after delivery
154
when is rubella most teratogenic
first trimester
155
TORCH acronym
Toxoplasmosis
Other
Rubella (German Measles)
Cytomegalovirus
Herpes simplex
156
what type of rash do you see on congenital rubella syndrome
blueberry muffin rash
(due to thrombotic thrombocytopenia Purpura and extra medullary hematopoiesis)
157
triad in congenital rubella
auditory defects (sensorineural deafness)
cardiovascular defects (PDA)
ocular defects (cataracts)
158
what is the most common finding and may be the only defect observed in congenital rubella syndrome
hearing loss
159
Diagnosis for congenital rubella syndrome
Rubella-specific IgM via enzyme immunoassay
160
Treatment for congenital rubella syndrome
supportive care -- organ specific
no specific treatment
161
when is chorionic villus sampling performed (CVS)
10-13 weeks
162
is CVS routinely offered
no; offered to women with increased risk of chromosomal abnormalities
163
what is chorionic villus sampling
test to see if fetus has genetic or chromosomal abnormalities
tests a sample of cells from the placenta
164
initial screening test of choice for SLE
anti-nuclear antibodies (ANA)
165
most specific antibody for SLE
anti-smith
166
highly specific antibody for SLE
anti-double stranded DNA (dsDNA)
167
if you have these specific antibodies in SLE, you have increased risk of arterial and venous thrombi
antiphospholipid antibodies
168
what levels are decreased in SLE
complement levels -- C3, C4, CH50
169
if you have these specific antibodies, higher risk of neonatal lupus
Anti-Ro and anti-La
170
Prader-Willi syndrome
genetic disorder characterized by:
prenatal hypotonia
postnatal growth delay
developmental disabilities
hypogonadotropic hypogonadism
obesity after infancy
171
common finding related to hypogonadism in prader-willi syndrome
cryptorchidism
172
diagnosis of Prader-Willi syndrome
genetic karyotyping
173
genetic disorder due to 3 copies of chromosome 21 or 3 copies of a region of the long arm of chromosome 21
Down syndrome/Trisomy 21
174
common clinical manifestations of head and neck in down syndrome
prominent epicanthal folds
Brushfield spots
175
common clinical manifestations of extremities in down syndrome
transverse, singular palmar crease (Simian crease)
176
common congenital heart disease in pts with down syndrome
atrioventricular septal defects
177
What is used to confirm diagnosis of Down syndrome
genetic testing
178
Prenatal screening tests for down syndrome
biochemical screening tests: performed in first trimester; a low PAPP-A (serum pregnancy associated plasma protein A) may be seen with DS
Nuchal translucency US: performed at 10-13 weeks; if increased nuchal fold thickness is present, fetal chromosomal abnormalities are usually diagnosed with chorionic villus sampling or amniocentesis
179
What is trisomy 18
Edwards syndrome
180
what trisomy is most common
down syndrome
181
what trisomy is second most common
Edwards syndrome
182
what process accounts for most cases of Edwards syndrome
nondisjunction -- chromosomes don't split apart
183
clinical manifestations of Edwards syndrome
intellectual disability + failure to thrive
congenital heart defect
GI anomalies (esophageal atresia and omphalocele [stomach stuff protrudes into umbilical cord])
Polyhydramnios due to fetus doesn't swallow as much amniotic fluid
kidney malformations (horseshoe kidney)
breathing problems
frequent infections
increased risk of developing Wilms tumor
184
common kidney malformation in Edwards syndrome
horseshoe kidney
185
Risk factors for Edwards syndrome
Advanced maternal age
Fhx
Female baby
186
Most babies with Edwards syndrome die before birth or within 1 week to 1 month after birth due to
central apnea
187
microcephaly or macrocephaly in Edwards syndrome
microcephaly
188
common mouth malformation in Edwards syndrome
cleft palate/lip
189
feet in Edwards syndrome
"Rocker-bottom" feet
190
What should you look for on US for prenatal diagnosis of Edwards syndrome
nuchal translucency
polyhydramnios
191
what serum markers will be decreased in Edwards syndrome during first trimester
HCG and PAPP-A
192
what serum markers will be decreased in Edwards syndrome during second trimester
AFP and uE3
193
what marker is typically normal in Edwards syndrome
Inhibin A - may be slightly decreased
194
how is diagnosis confirmed for Edwards syndrome
karyotyping -- can do this prenatally with amniocentesis or after birth with blood test
195
lab results for Down syndrome
decreased PAPP-A, uE3, AFP
increased hCG and inhibin A
196
extra copy of chromosomal 13
Trisomy 13 = Patau syndrome
197
clinical manifestations of Patau syndrome
microcephaly
Holoprosencephaly
Meningomyelocele
severe intellectual disability
GI issues (omphalocele)
Heart defects
Polycycstic kidney disease
198
Risk factors for Patau syndrome
Advancing maternal age
Fhx
199
what type of feet will you see in Patau syndrome
Rocker bottom feet
200
head lesion in patau syndrome
cutis aplasia
201
finger issues with patau syndrome
polydactyly
202
eye issue in patau syndrome
microphthalmia
in severe cases: cyclopia
203
In patau's syndrome, nose may be replaced with
proboscis
204
Lab testing for patau syndrome
decreased PAPP-A, hCG, uE3, AFT
unchanged inhibin A
nuchal translucency
205
what factor is deficient in hemophilia A
factor 8
206
what is the most common type of hemophilia
Hemophilia A
207
is hemophilia A x linked or autosomal
x linked
208
is hemophilia A recessive or dominant
recessive
X linked recessive
209
clinical manifestations of hemophilia A
delayed bleeding after trauma or spontaneously or swelling in weight bearing joints (ankles), soft tissues, and muscles
210
Diagnosis of hemophilia A
low factor 8
prolonged aPTT, normal PT
211
Management of hemophilia A
Factor 8 infusion
Desmopressin increases factor 8 and vWF -- can be used prior to procedures
212
Hemophilia B is also called
Christmas disease
213
describe inheritance of hemophilia B
x linked recessive
214
what factor is decreased in hemophilia B
factor 9
215
clinical manifestations of hemophilia B
delayed bleeding after trauma or spontaneously, or swelling in weight-bearing joints (ankles), soft tissues, and muscles
216
Diagnosis of Hemophilia B
low factor 9
prolonged aPTT, normal PT
217
management of hemophilia B
factor 9 infusion
Desmopressin is not useful!!!!!
218
hemophilia C is also called
Rosenthal syndrome
219
what factor is deficient in hemophilia C
factor 11
220
describe inheritance of hemophilia C
autosomal recessive
221
what is the Quad screen
a SCREENING test
blood is drawn from arm (vein)
all women are offered test
222
vaccines recommended during pregnancy
Tdap
Influenza
Covid
potentially hep A, hep B, pneumococcal, Hib
223
how much folic acid should all women of reproductive age take per day
400 micrograms
224
2 layers of placenta
amnion - closest to fetus
chorion - outer layer
