Med Study 2 Flashcards
What is incontinentia pigmenti?
= an x-linked dominant disorder that causes skin lesions soon after birth
can mimic HSV
has 4 phases of skin lesions that take place over the first few years
also involves dental, hair and nail abnormalities
can be associated with mental disability
This congenital condition mimics HSV in the newborn
Incontinentia pigmenti
complicating this is both can cause seizures
Can males and females both present with incontinentia pigmenti?
No, only female infants will present with this x-linked dominant disorder, since it is lethal in hemizygous males
Describe the appearance of the first phase of skin lesions in incontinentia pigmenti
inflammatory vesicles and bullae all over the trunk and extremities
Supravalvular aortic stenosis, hypersensitivity to loud sounds, major interest and enthusiasm for music, difficulty with certain food textures/clothing textures, hypercalcemia, and mild to moderate intellectual disability =
Williams syndrome
Williams syndrome buzz words
outgoing social personality
mild intellectual disability
psych issues
aortic stenosis
liking music
“Cocktail party personality” think
Williams syndrome
Cause of Williams Syndrome
sporadic microdeletion on chromosome 7
Elfin like facies think
Williams Syndrome
Williams syndrome genetics
microdeletion on chromosome 7
A child has unusual facial features, short stature, pulmonic stenosis, bleeding problems and skeletal malformations but normal or only very mildly impaired intellectual ability. What syndrome does this child have?
Noonan Syndrome
Blank is a genetic disorder of connective tissue and is associated with aortic disection/weakness of the aorta, dislocation of the eye’s lens, being tall, and often have pectus deformities and scoliosis.
Marfan syndrome
Blank is a systemic vasculitis presenting with a purpuric rash and nephritis
IgA vasculitis
What are the PTT and PT in Hemophilia A?
PT/INR is normal
PTT is prolonged
In immune thrombocytopenia, what are the PT/INR and PTT?
Normal!
What are the PT/INR, PTT and platelets in DIC? (low/normal/high?)
PT/INR, PTT are prolonged
and plts are all low
In EBV mono, is it the anterior or posterior cervical lymph nodes that typically get swollen?
posterior
Conjunctivitis, exudative pharyngitis, and a morbilliform rash in the summer think
adenovirus
Who is most likely to get osteosarcomas?
adolescents during growth spurt
Most common presenting symptoms/findings for osteosarcoma
pain
swelling, that you can feel on exam
Does an osteoid osteoma usually cause persistent or intermittent pain?
Persistent
Stereotypical hand wringing is seen in this syndrome
Rett syndrome
Rett syndrome
= regression of motor and language milestones and acquired microcephaly starting around age 1, seen in girls
How to treat a digitalis/digoxin overdose:
Digoxin-specific Fab antibodies
What is a scotoma?
an aura or blindspot obstructing part of your vision
Electrolyte abnormality seen in digoxin toxicity
hyperkalemia
Symptoms of digoxin toxicity
nausea
vomiting
abdominal pain
scotomos/alterations in color vision
confusion, headache and weakness
ARRHYTHMIAS***
hyperkalemia
will occur about 6 hours post ingestion
Med used to treat acute dystonic reactions
benztropine
(acute dystonic reaction = involuntary contractions of the muscles of the face and extremities that occurs after taking an antipsychotic)
Drug you should give a child who presents with a beta blocker or calcium blocker ingestion
glucagon
will raise glucose and HR
What causes anovulatory cycles during the first two years following menarche?
An immature hypothalamic-pituitary-ovarian axis
There is an absence of a mid cycle surge of LH, and so ovulation does not occur
The normal mid-cycle surge of LH leads to ovulation and the development of
the corpus luteum
What is the job of the corpus luteum?
it’s job is to make the uterus a healthy place for a fetus to grow
so it releases progesterone after ovulation to support a new pregnancy if that occurs
What is the corpus luteum?
it is a temporary gland structure that forms from the empty follicle left behind after ovulation
it produces progesterone
Low levels of DHEAS (dehydroepiandrosterone sulfate) indicate
adrenal insufficiency
(measuring DHEAS levels is a way of measuring steroid levels in the body)
Low levels of IGF-1 and IGF-binding protein 3 are associated with this deficiency
growth hormone deficiency
In the menstrual cycle, there is a mid-cycle surge of
LH
Threshold for when to start phototherapy for a high risk infant at 48 hours of life:
11
so anything over 11 start photo
At 24 hours of life, what is the threshold at which to start phototherapy for a low risk infant?
12
so bili > 12 at 24 hours of life, start photo
Threshold for starting phototherapy in a low risk infant at 48 hours of life
> 15
Threshold for starting phototherapy in a low risk infant at 72 hours of life:
bili > 18, start photo
Which infants are in the low risk category when using bili tool?
Infants born at 38 weeks, 0 days or greater, and without risk factors
Which infants are in the medium risk category when using bilitool?
Infants who are well, without risk factors born at 35 weeks zero days to 37 weeks 6 days gestation
or
Infants born at 38 weeks, zero days or greater but who do have risk factors
Which infants are in the high risk group when using bilitool?
Infants born at 35 weeks, zero days to 37 weeks, 6 days WITH risk factors
Average max bilirubin level reached by full term ifnants
5-9 mg/dL (lower than I thought), usually peaking at 72-96 hours (3-4 days) of life
To get secreted, bilirubin must be
conjugated (so that it is water soluble and is able to be excreted in the bile)
(of note, bilirubin is NOT normally excreted in urine)
Jaundice within the first 24 hours of life is always
pathologic
Acholic (pale, putty colored) stools means there is an absence of blank in the stool
absence of bile in the stool
(this is due to biliary obstruction)
Two ways to define direct (conjugated) hyperbilirubinemia
20% or more of the total bili
or direct bili > 2
What is “bronze baby” syndrome?
= refers to when neonates with a high DIRECT bili who are put under phototherapy get a dark, brownish-gray discoloration of the skin
A double volume exchange transfusion should be considered when a neonate has a hemolytic process and the cord bilirubin is greater than
5 mg/dL
Name some complications of exchange transfusions:
thrombocytopenia
coagulopathy (bleeding)
portal vein thrombosis
NEC
hypokalemia and hypocalcemia
graft vs host reactions
infection
arrhythmias (not sure why for this one)
Healthy low risk infant exchange transfusion level at 24 hours of life
19
Exchange transfusion level for low risk infant at 48 hours of age
22
Exchange transfusion level for low risk infant at 72 hours of age
24
Exchange transfusion level for low risk infant at GREATER than 72 hours of age
25
For high risk infants, what is the exchange transfusion level at 24 hours of life?
15
For high risk infants, what is the exchange transfusion level at 48 hours of life?
17
For high risk infants, what is the exchange transfusion level at 72 hours of life?
18.5
For high risk infants, what is the phototherapy threshold at 24 hours of life?
8
For high risk infants, what is the phototherapy threshold at 48 hours of life?
11
For high risk infants, what is the phototherapy threshold at 72 hours of life?
13.5
For an infant born at 37 weeks, 2 days gestation with a positive DAT and ABO incompatibility, what should you do when their 48 hour bilirubin comes back at 12.5?
The key is this infant is in the HIGH risk group of infants
so photo needs to be started at any bili level > 11 at 48 hours
so start phototherapy.
oh, and ALWAYS check a direct bili “in any case of pathologic jaundice.”
According to MEDSTUDY, the most common cause of bacterial diarrhea is
campylobacter jejuni
Long term complications of a campylobacter jejuni diarrheal illness include
reactive arthritis
GBS (guillain-barre syndrome)
The most common cause of bacterial diarrhea in the United States is
Campylobacter jejuni
What shape is salmonella
rod shaped bacillus
bacillus i think basically just means rod shaped……
Is salmonella gram pos or gram neg?
gram neg
Tx for campylobacter jejuni diarrhea
macrolides (like azithromycin)
A 7 year has bloody diarrhea and abdominal pain, as do his siblings, after consuming chicken at a barbecue. Stool culture shows spiral-shaped, gram negative bacilli. What bacteria is causing this illness?
Campylobacter jejuni
Blank is a spiral or helical shaped gram negative bacilli that causes food borne diarrheal illness
Campylobacter jejuni
sounds kind of spirally
Sclerotic destruction in a sunburst pattern =
osteosarcoma
what does sclerosis mean
hardening
sunburst think
osteosarcoma
Blank is a benign bone lesion that usually presents with nocturnal pain
osteoid osteoma
An oval metaphyseal radiolucent lesion surrounding by sclerotic bone =
an osteoid osteoma
smooth borders
it’s benign
An osteochondroma is a benign tumor that typically occurs where? What does it look like on x-ray?
distal femur
proximal tibia (so the knee area)
or the proximal humerus
“multiple broad-based bony projections” on x-ray
Lytic, multilaminar periosteal elevation =
Ewing Sarcoma
Where does Ewing sarcoma usually occur?
long bones
What is Blount disease?
It’s when there is a slowly progressive genu varum deformity of one leg.
more common in black children.
it’s a disease that affects the growth plate around the knee, where one side (the medial side) of the growth plate just stops growing, but the outside continues to grow normally
can be seen in babies, kids or adolescents it seems like
Knee pain + leg that gradually “keeps getting more bowed” =
Blount disease
Exam in Blount disease
genu varum deformity on affected side/knee
tibial torsion below this deformity
leg length discrepancy