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Unit 4 disease charts > 4.2 > Flashcards

4.2 Flashcards

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1
Q

what causes chancroid

A

haemophilus ducreyi

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2
Q

what type of bacteria is haemophilus ducreyi

A

gram negative coccobacillus

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3
Q

are genital ulcers painful or painless in chancroid

A

painful

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4
Q

clinical manifestations of chancroid

A

painful genital ulcers
painful enlarged inguinal lymphadenopathy
^^ can liquefy and come fluctuant (bubo formation)

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5
Q

why is chancroid usually a clinical diagnosis

A

difficult to culture

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6
Q

what do you have to rule out before you can diagnose chancroid

A

syphilis and HSV

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7
Q

is a minor who is pregnant emancipated

A

no

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8
Q

what lab value can increase during pregnancy

A

WBC

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9
Q

what lab values tend to decrease during pregnancy

A

RBC
Hgb
Hct
MCV (sometimes)
platelets can fluctuate

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10
Q

is Tay Sachs autosomal or X-linked

A

autosomal

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11
Q

is Tay Sachs dominant or recessive

A

recessive

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12
Q

in what populations is Tay Sachs very popular

A

Ashkenazi Jewish
Eastern European
Cajuns in southern Louisiana
French Canadians

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13
Q

what gene is mutated in Tay Sachs disease and what chromosome is it located on

A

HEXA gene on chromosome 15

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14
Q

what is deficient in Tay Sachs disease

A

beta-hexosaminidase A

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15
Q

what accumulates in the brain of a pt with Tay Sachs

A

gangliosides (lipids)

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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

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17
Q

when does death usually occur in Tay Sachs

A

3-4 years

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18
Q

what will you see on retinal exam in someone with Tay Sachs

A

cherry red spots with macular pallor

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19
Q

how to diagnose Tay Sachs disease

A

enzymatic assay –> low levels of beta hexosaminidase A

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20
Q

management for Tay Sachs

A

no effective treatment

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21
Q

what is the most common cause of hypothyroidism in the US

A

Hashimoto thyroiditis

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22
Q

what are the two forms of Hashimoto thyroiditis

A

goitrous
atrophic

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23
Q

what is goitrous Hashimoto thyroiditis

A

thyroid gland enlargement

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24
Q

what is atrophic Hashimoto thyroiditis

A

minimal residual tissue

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25
Q

why might women with Hashimoto thyroiditis have galactorrhea

A

increased prolactin

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26
Q

is myxedema in Hashimoto thyroiditis pitting or nonpitting

A

nonpitting

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27
Q

common findings on PE in someone with Hashimoto thyroiditis

A

bradycardia
loss of outer 1/3 of eyebrows

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28
Q

what hormone is increased in Hashimoto thyroiditis

A

Thyroid stimulating hormone (TSH)

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29
Q

what is decreased in Hashimoto thyroiditis

A

free T4 and T3

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30
Q

what antibodies will you find to diagnose Hashimoto thyroiditis

A

Antithyroid peroxidase
Anti-thyroglobulin antibodies

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31
Q

what might you see on biopsy in Hashimoto thyroiditis

A

Hürthle cells and lymphocytic infiltration

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32
Q

how do you treat Hashimoto thyroiditis

A

Levothyroxine therapy

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33
Q

Neoplasm due to abnormal placental development with trophoblastic tissue proliferation

A

gestational trophoblastic disease (molar pregnancy)

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34
Q

are most molar pregnancies benign

A

yes (80%)

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35
Q

is a complete molar pregnancy diploid or triploid

A

diploid

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36
Q

is partial molar pregnancy diploid or triploid

A

triploid

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37
Q

describe complete molar pregnancy

A

empty (enucleated) egg with no DNA that is fertilized by 1 or 2 sperm

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38
Q

which type of molar pregnancy contains only paternal chromosomes

A

complete molar pregnancy

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39
Q

which type of molar pregnancy is associated with a higher risk of malignant development into choriocarcinoma

A

complete molar pregnancy

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40
Q

what is the most common type of molar pregnancy

A

complete molar pregnancy

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41
Q

describe partial molar pregnancy

A

an egg is fertilized by 2 sperm (or one sperm that duplicates its chromosomes)

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42
Q

is fetal tissue seen in partial molar pregnancy

A

yes it may be seen but it is always abnormal and not viable

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43
Q

risk factors for having molar pregnancy

A

prior molar pregnancy
extremes of maternal age <20 or >35
Asian

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44
Q

Clinical manifestations of molar pregnancy

A

painless vaginal bleeding
preeclampsia 6-16 weeks
hyperemesis gravidarum (due to elevated beta-hCG levels)

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45
Q

what will you see on PE in molar pregnancy

A

uterine size and date discrepancies (larger or smaller than expected)
often an enlarged uterus

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46
Q

diagnosis for molar pregnancy

A

Beta-hCG
Pelvic ultrasound

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47
Q

Beta-hCG levels in molar pregnancy

A

markedly elevated (>100,000 mIU/mL)

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48
Q

what will you see on pelvic ultrasound in molar pregnancy

A

complete - central heterogenous mass with multiple discrete anechoic spaces
“snowstorm” or “cluster or grapes” appearance
absence of fetal parts and heart sounds

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49
Q

treatment for molar pregnancy

A

surgical uterine evacuation ASAP to avoid risk of choriocarcinoma development

obtain chest radiograph to look for METS

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50
Q

most common site for METS for choriocarcinoma

A

lungs

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51
Q

cessation of menses > 1 year due to loss of ovarian function

A

menopause

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52
Q

loss of ovarian function in menopause leads to decreased

A

estrogen and progesterone production

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53
Q

average age of menopause in US

A

50-52

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54
Q

when is menopause considered premature

A

< 40 y (this is called primary ovarian insufficiency)

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55
Q

the time period preceding menopause when fertility wanes and menstrual cycle irregularity increases

A

perimenopause

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56
Q

estrogen deficiency leads to what clinical manifestations

A

hot flashes (MC symptom)
sleep disturbances
mood changes

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57
Q

what might you see on PE in someone who has undergone menopause

A

decreased bone density
dry and thin skin with decreased elasticity
vaginal atrophy with thin mucosa
decrease in breast size

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58
Q

most sensitive initial test for menopause

A

FSH assay

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59
Q

what will you see on FSH assay in someone who has undergone menopause

A

FSH > 30 IU/mL

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60
Q

what will be increased and what will be decreased for diagnosis of menopause

A

Increased LH
Decreased estrogen

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61
Q

do androstenedione levels change in menopause

A

NO

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62
Q

complications of menopause

A

osteoporosis
hyperlipidemia
increased cardiovascular risk

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63
Q

hormone replacement therapy in menopausal woman with uterus present

A

estrogen and progestin

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64
Q

hormone replacement therapy in menopausal women with no uterus present

A

estrogen only

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65
Q

group of X chromosome abnormalities characterized by loss of part of, all or, or nonfunctional X sex chromosome

A

Turner’s syndrome

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66
Q

what is the most common sex chromosomal abnormality in females

A

Turner’s syndrome

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67
Q

type of Turner’s syndrome involving nonfunctioning X chromosome is due to

A

mosaicism

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68
Q

type of Turner’s syndrome in which a total chromosome is missing

A

X monosomy

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69
Q

clinical manifestations of Turner’s syndrome

A

gonadal dysgenesis (fibrosed/streaked ovaries –> ovarian failure –> unable to produce estrogen)
absence of breasts
infertility

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70
Q

what do you commonly see on PE in Turner’s syndrome

A

short statue
webbed neck
broad chest with widely spaced nipples
“shield chest”
short 4th metacarpals and metatarsals

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71
Q

common cardiovascular findings in someone with Turner’s syndrome

A

coarctation of aorta
bicuspid aortic valve

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72
Q

do parents have increased risk of having another child with Turner’s syndrome

A

no; happens randomly

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73
Q

Diagnosis of Turner’s syndrome

A

Karyotype - definitive
Primary hypogonadism (low estrogen + high LH and FSH)

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74
Q

Management for Turner’s syndrome

A

Recombinant human growth hormone to increase height
Estradiol-progestin replacement therapy if no breast development between 11-12 y

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75
Q

genetic disorder seen in males with an extra, inactive X chromosome (47XXY)

A

Klinefelter’s syndrome

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76
Q

do people with Klinefelter’s have a normal appearance before puberty

A

YES

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77
Q

what might you see in infancy in Klinefelter’s

A

micropenis or hypospadias

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78
Q

Common clinical manifestations of Klinefelter’s

A

delayed puberty
tall stature (thin + long limbed with Eunochoid features)
hypogonadism –> small testes, gynecomastia, infertility, scarce pubic hair

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79
Q

common clinical feature in ADULTHOOD in someone with Klinefelter’s

A

obesity

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80
Q

Diagnosis of Klinefelter’s

A

Prenatal or postnatal karyotyping (47 XXY)

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81
Q

labs for primary gonadal failure in Klinefelter’s

A

low or low-normal serum testosterone + increased FSH and LH (FSH > LH)
increased estradiol

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82
Q

management of Klinefelter’s

A

supplemental testosterone can help w secondary characteristics

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83
Q

indications for amniocentesis

A

pregnant women > 35
assessment for fetal chromosomal disorder risk

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84
Q

when should amniocentesis be performed

A

15 weeks 0 days - 17 weeks 6 day gestation

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85
Q

12 week genetic testing in pregnancy

A

non-invasive prenatal testing (NIPT)

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86
Q

what is NIPT

A

cell free DNA from placental fetal cells circulates in maternal blood so we can grab that DNA and examine it for genetic mutations

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87
Q

when can NIPT be performed

A

as early as 10 weeks

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88
Q

if positive NIPT, what’s next?

A

amniocentesis still gold standard

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89
Q

idiopathic disorder characterized by recurrent venous or arterial thromboses or small-vessel thrombosis due to antibodies against negatively-charged phospholipids

A

antiphospholipid syndrome

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90
Q

is antiphospholipid syndrome more common in men or women

A

women

91
Q

VENOUS clinical manifestations in antiphospholipid syndrome

A

recurrent DVT (most common)
PE

92
Q

ARTERIAL clinical manifestations of antiphospholipid syndrome

A

atherosclerosis
TIA
cerebrovascular accidents
recurrent fetal loss

93
Q

pregnancy complications of antiphospholipid syndrome

A

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
Q

common PE finding in antiphospholipid syndrome

A

livedo reticularis

95
Q

Diagnosis of antiphospholipid syndrome

A

anticardiolipin antibodies
lupus anticoagulant
anti-beta2-glycoprotein

96
Q

what antibody in APS is associated with false positive syphilis testing

A

anticardiolipin antibodies

97
Q

PTT in vitro versus in vivo for antiphospholipid

A

increased PTT in vitro (in lab)
decreased PTT in vivo (in person) –> hyper coagulable state

98
Q

lifelong therapy for non pregnant ppl with APS

A

Warfarin

99
Q

therapy for pregnant ppl w APS

A

enoxaparin (LMWH)

100
Q

is cystic fibrosis autosomal or X linked

A

autosomal

101
Q

is cystic fibrosis recessive or dominant

A

recessive

102
Q

in what population is cystic fibrosis most common

A

caucasians
northern europeans

103
Q

what gene is mutated in cystic fibrosis

A

cystic fibrosis transmembrane conductance receptor (CFTR) gene

104
Q

common clinical manifestation of cystic fibrosis in infancy

A

meconium ileus (delayed passage of meconium leading to obstruction of bowel by meconium in newborn infant)

105
Q

most common type of bronchiectasis in the US

A

cystic fibrosis

106
Q

most common colonizer of respiratory tract in cystic fibrosis in ADULTS

A

mucoid pseudomonas aeruginosa

107
Q

most common colonizer of respiratory tract in cystic fibrosis in KIDS

A

non-mucoid pseudomonas aeruginosa

108
Q

GI symptoms of cystic fibrosis

A

malabsorption of fat soluble vitamins (A,D,E,K)

109
Q

why are males with cystic fibrosis infertile

A

azoospermia
95% will have congenital absence of vas deferens

110
Q

diagnosis of cystic fibrosis

A

elevated sweat chloride

111
Q

what diet should someone with cystic fibrosis follow

A

high fat diet with supplemental fat soluble vitamins (A,D,E,K)

112
Q

what enzyme replacement is often needed in people with cystic fibrosis

A

pancreatic enzyme replacement

113
Q

toxoplasmosis is caused by

A

toxoplasma gondii

114
Q

what type of bacteria is toxoplasma gondii

A

obligate intracellular protozoa

115
Q

how is toxoplasmosis transmitted

A

ingestion of infectious oocysts usually from soil or cat litter, food or water contaminated with feline feces, or undercooked meat from infected animal

116
Q

primary infection in toxoplasmosis

A

mono-like infection with non-tender cervical lymphadenopathy

117
Q

reactivation of toxoplasmosis

A

encephalitis
chorioretinitis
pneumonitis
myocarditis

118
Q

most common presentation of toxoplasmosis in someone with AIDS

A

encephalitis

119
Q

what is chorioretinitis

A

posterior uveitis — eye pain, floaters, decreased visual acuity

120
Q

serologies for toxoplasmosis

A

anti-toxoplasma IgG antibodies via ELISA

121
Q

what will Neuroimaging show in toxoplasmosis

A

multiple necrotizing ring-enhancing lesions (these can also be seen in CNS lymphoma so this is nonspecific)

122
Q

congenital toxoplasma infection

A

chorioretinitis
hydrocephalus
intracranial calcifications

123
Q

serologies in congenital toxoplasma infection

A

anti-toxoplasma IgM antibodies

124
Q

what is the leading cause of neonatal infection and major cause of sepsis in newborns

A

Group B strep

125
Q

maternal complications of GBS infection

A

chorioamnionitis (inflammation of placenta)
preterm labor
asymptomatic bacteriuria
cystitis
pyelonephritis

126
Q

screening for GBS according to ACOG

A

36 0/7 to 37 6/7 weeks gestation

127
Q

2 exceptions to screening for GBS

A

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
Q

what prophylactic antibiotic should be given within 4 hours of delivery for those who test positive or were exceptions to screening

A

IV PCN G

129
Q

what vital signs increase during pregnancy

A

cardiac output
systolic BP
diastolic BP

130
Q

when can you begin to have nipple discharge during pregnancy

A

12-16 weeks

131
Q

when does symphyseal-fungus heigh correlate with gestational age of fetus

A

after 20 weeks gestation

132
Q

Hegar sign

A

softening of lower uterine segment

133
Q

Goodell’s sign

A

softening of cervix

134
Q

Chadwick’s sign

A

bluish color of cervix due to venous congestion

135
Q

ballotment

A

examiner uses finger to tap against uterus causing fetus to “bounce” within amniotic fluid and feel it rebound quickly

136
Q

how many extra calories needed during 1st trimester

A

0

137
Q

how many extra calories needed during 2nd trimester

A

340

138
Q

how many extra calories needed during 3rd trimester

A

450

139
Q

weight gain during first trimester

A

1-5 pounds
or none at all

140
Q

weight gain during second trimester

A

0.5 - 1 pound per week

141
Q

weight gain during third trimester

A

0.5-1 pound per week

142
Q

how much weight should healthy pregnant person gain during entire pregnancy

A

25-35 pounds

143
Q

glucose intolerance or DM with consent or first recognition during pregancy

A

Gestational diabetes mellitus (GDM)

144
Q

common risk factors for gestational DM

A

Fhx
Prior Hx
spontaneous abortion
history of infant > 4000 g at birth
multiple gestations
OBESITY
> 25 y

145
Q

who is more at risk of developing gestational DM

A

African American women

146
Q

what exacerbates maternal insulin resistance in gestational DM

A

human placental lactogen

147
Q

most common fetal complication of gestational DM

A

fetal macrosomia

148
Q

other fetal complications of gestational DM

A

preterm labor
neonatal hypoglycemia
neonatal hypocalcemia

149
Q

what is the risk of developing type 2 DM after having gestational DM

A

50%

150
Q

screening for gestational DM

A

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
Q

When do we have Rh incompatibility

A

Rh negative mom
Rh positive baby

152
Q

is Rhogam necessary if you are Rh positive

A

no

153
Q

When should Rhogam be given

A

28 weeks pregnancy
If rh positive fetus, administered again within 72 hours after delivery

154
Q

when is rubella most teratogenic

A

first trimester

155
Q

TORCH acronym

A

Toxoplasmosis
Other
Rubella (German Measles)
Cytomegalovirus
Herpes simplex

156
Q

what type of rash do you see on congenital rubella syndrome

A

blueberry muffin rash
(due to thrombotic thrombocytopenia Purpura and extra medullary hematopoiesis)

157
Q

triad in congenital rubella

A

auditory defects (sensorineural deafness)
cardiovascular defects (PDA)
ocular defects (cataracts)

158
Q

what is the most common finding and may be the only defect observed in congenital rubella syndrome

A

hearing loss

159
Q

Diagnosis for congenital rubella syndrome

A

Rubella-specific IgM via enzyme immunoassay

160
Q

Treatment for congenital rubella syndrome

A

supportive care – organ specific
no specific treatment

161
Q

when is chorionic villus sampling performed (CVS)

A

10-13 weeks

162
Q

is CVS routinely offered

A

no; offered to women with increased risk of chromosomal abnormalities

163
Q

what is chorionic villus sampling

A

test to see if fetus has genetic or chromosomal abnormalities
tests a sample of cells from the placenta

164
Q

initial screening test of choice for SLE

A

anti-nuclear antibodies (ANA)

165
Q

most specific antibody for SLE

A

anti-smith

166
Q

highly specific antibody for SLE

A

anti-double stranded DNA (dsDNA)

167
Q

if you have these specific antibodies in SLE, you have increased risk of arterial and venous thrombi

A

antiphospholipid antibodies

168
Q

what levels are decreased in SLE

A

complement levels – C3, C4, CH50

169
Q

if you have these specific antibodies, higher risk of neonatal lupus

A

Anti-Ro and anti-La

170
Q

Prader-Willi syndrome

A

genetic disorder characterized by:
prenatal hypotonia
postnatal growth delay
developmental disabilities
hypogonadotropic hypogonadism
obesity after infancy

171
Q

common finding related to hypogonadism in prader-willi syndrome

A

cryptorchidism

172
Q

diagnosis of Prader-Willi syndrome

A

genetic karyotyping

173
Q

genetic disorder due to 3 copies of chromosome 21 or 3 copies of a region of the long arm of chromosome 21

A

Down syndrome/Trisomy 21

174
Q

common clinical manifestations of head and neck in down syndrome

A

prominent epicanthal folds
Brushfield spots

175
Q

common clinical manifestations of extremities in down syndrome

A

transverse, singular palmar crease (Simian crease)

176
Q

common congenital heart disease in pts with down syndrome

A

atrioventricular septal defects

177
Q

What is used to confirm diagnosis of Down syndrome

A

genetic testing

178
Q

Prenatal screening tests for down syndrome

A

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
Q

What is trisomy 18

A

Edwards syndrome

180
Q

what trisomy is most common

A

down syndrome

181
Q

what trisomy is second most common

A

Edwards syndrome

182
Q

what process accounts for most cases of Edwards syndrome

A

nondisjunction – chromosomes don’t split apart

183
Q

clinical manifestations of Edwards syndrome

A

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
Q

common kidney malformation in Edwards syndrome

A

horseshoe kidney

185
Q

Risk factors for Edwards syndrome

A

Advanced maternal age
Fhx
Female baby

186
Q

Most babies with Edwards syndrome die before birth or within 1 week to 1 month after birth due to

A

central apnea

187
Q

microcephaly or macrocephaly in Edwards syndrome

A

microcephaly

188
Q

common mouth malformation in Edwards syndrome

A

cleft palate/lip

189
Q

feet in Edwards syndrome

A

“Rocker-bottom” feet

190
Q

What should you look for on US for prenatal diagnosis of Edwards syndrome

A

nuchal translucency
polyhydramnios

191
Q

what serum markers will be decreased in Edwards syndrome during first trimester

A

HCG and PAPP-A

192
Q

what serum markers will be decreased in Edwards syndrome during second trimester

A

AFP and uE3

193
Q

what marker is typically normal in Edwards syndrome

A

Inhibin A - may be slightly decreased

194
Q

how is diagnosis confirmed for Edwards syndrome

A

karyotyping – can do this prenatally with amniocentesis or after birth with blood test

195
Q

lab results for Down syndrome

A

decreased PAPP-A, uE3, AFP

increased hCG and inhibin A

196
Q

extra copy of chromosomal 13

A

Trisomy 13 = Patau syndrome

197
Q

clinical manifestations of Patau syndrome

A

microcephaly
Holoprosencephaly
Meningomyelocele
severe intellectual disability
GI issues (omphalocele)
Heart defects
Polycycstic kidney disease

198
Q

Risk factors for Patau syndrome

A

Advancing maternal age
Fhx

199
Q

what type of feet will you see in Patau syndrome

A

Rocker bottom feet

200
Q

head lesion in patau syndrome

A

cutis aplasia

201
Q

finger issues with patau syndrome

A

polydactyly

202
Q

eye issue in patau syndrome

A

microphthalmia

in severe cases: cyclopia

203
Q

In patau’s syndrome, nose may be replaced with

A

proboscis

204
Q

Lab testing for patau syndrome

A

decreased PAPP-A, hCG, uE3, AFT

unchanged inhibin A

nuchal translucency

205
Q

what factor is deficient in hemophilia A

A

factor 8

206
Q

what is the most common type of hemophilia

A

Hemophilia A

207
Q

is hemophilia A x linked or autosomal

A

x linked

208
Q

is hemophilia A recessive or dominant

A

recessive

X linked recessive

209
Q

clinical manifestations of hemophilia A

A

delayed bleeding after trauma or spontaneously or swelling in weight bearing joints (ankles), soft tissues, and muscles

210
Q

Diagnosis of hemophilia A

A

low factor 8
prolonged aPTT, normal PT

211
Q

Management of hemophilia A

A

Factor 8 infusion
Desmopressin increases factor 8 and vWF – can be used prior to procedures

212
Q

Hemophilia B is also called

A

Christmas disease

213
Q

describe inheritance of hemophilia B

A

x linked recessive

214
Q

what factor is decreased in hemophilia B

A

factor 9

215
Q

clinical manifestations of hemophilia B

A

delayed bleeding after trauma or spontaneously, or swelling in weight-bearing joints (ankles), soft tissues, and muscles

216
Q

Diagnosis of Hemophilia B

A

low factor 9
prolonged aPTT, normal PT

217
Q

management of hemophilia B

A

factor 9 infusion

Desmopressin is not useful!!!!!

218
Q

hemophilia C is also called

A

Rosenthal syndrome

219
Q

what factor is deficient in hemophilia C

A

factor 11

220
Q

describe inheritance of hemophilia C

A

autosomal recessive

221
Q

what is the Quad screen

A

a SCREENING test

blood is drawn from arm (vein)

all women are offered test

222
Q

vaccines recommended during pregnancy

A

Tdap
Influenza
Covid

potentially hep A, hep B, pneumococcal, Hib

223
Q

how much folic acid should all women of reproductive age take per day

A

400 micrograms

224
Q

2 layers of placenta

A

amnion - closest to fetus
chorion - outer layer

Unit 4 disease charts (9 decks)

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