Test 8-10: All Flashcards
What are lab values for Hereditary Spherocytosis
- increase mean corpuscular [hemoglobin]
- spherocytes on peripheral smear
- positive osmotic fragility test on acidifed glycerol lysis test
Hereditary spherocytosis results from red cell cytoskeleton abnormalities, most commonly of what
spectrin and ankyrin
what do spherocytes look like
- small, round RBC
- no central pallor
Spherocytes are prone to sequestration and subsequent accelerated destruction where
in spleen
what are some clinical features of hereditary spherocytosis
- hemolytic anemia
- jaundince
- splenomegaly
First trimester use of Valproate is a significant risk factor for what
neural tube defects
What can reduce risk of neural tube defect
periconceptional folate ( B9) supplementation
Lithium can cause what fetal problems
Ebstein anomaly
findings of hillier adenopathy, pulmonary infiltrates, and non-caveating lung granulomas in an african american female has what
sarcoidosis
Th1 type CD4+ helper T cell make what cytokines
IL-2
IFN-gamma
Th2 type CD4+ helper T cell make what cytokines
IL-4
IL-5
COPD can cause hypoxia sufficient to stimulate
increased erythropoietin production by cortical cells of kidney
FRC increased or decreased in COPD
increased
So in biostats, if something asks for the probability, what is it most likely looking for
positive or negative predictive value
positive and negative predictive value changes with what
prevalence
how is Lesch-Nyhan inherited
X-linked recessive
Lesch-Nyhan is a deficiency in what
hypoxantine-guanine phosphoribosyltransferase (HGPRT)
Define N-myc
transcription factor
- Binds DNA
- gain of function
During skeletal muscle contraction, calcium is released from sarcoplasmic reticulum and binds to what
Troponin C
name the dopaminergic pathways in the brain
- mesolimbinc and mesocortical pathways
- nigrostriatal pathway
- tuberoinfundibular pathway
role of mesolimbic and mesocortical pathway
regulate cognition and behavior
role of nigrostriatal pathway
coordination of voluntary movements
role of tuberoinfundibular pathway
inhibit prolactin secretion
What drug can disrupt the tuberoinfundibular pathway
D2 receptor blocking antipsychotics
arcuate fasciculus connects what
broca and wernicke
Disruption of hypothalamospinal tract can cause
ipsilateral horner sindrome
What drug inhibits IL-2 signal transduction ( prevents response to IL-2)
Sirolimus (Rapamycin)
MOA for Sirolimus
- binds to FKBP in cytoplams
- complex binds mTOR
- blocks IL-2
MOA for Bortezomib
binds and inhibits 26S proteasome
MOA for Mycophenolate
- reversibly inhibits IMP dehydrogenase
- preventing purine synthesis
MOA for Rituximab
antibody against CD20 antigen ( b lymphocyte)
When is Beta-hCG detected in serum during pregnancy
8 days after fertilization
When is Beta-hCH detected in mother urine during pregnancy
14 days after fertilization
A result is considered statistically significant if the 95% confidence interval does not cross the null value, which corresponds to what p-value
less than 0.05
What lab technique can be used to determine the carrier status of a prospective parent who has no history of sickle cell anemia
hemoglobin electrophoresis
Which cell is responsible for dense deposition of extracellular matrix and collagen in atherosclerotic plaque
Smooth muscle cells
Patient with swollen gums, scattered ecchymosis and hyperkeratosis is what vitamin deficient?
C
Vitamin C is necessary for hydroxylation of?
proline and lysine residues in pro-collagen
During aerobic exercise, increases skeletal muscle production of what where in the circulation system? decreases?
CO2 in mixed venous blood
- decreased oxygen content in venous blood
What does chromatin cells release? what stimulus do chromatin cells respond to
- catecholamines
- acetylcholine
What causes medial fragment of fractured clavicle to displace superiorly
- sternocleidomastoid muscle
What causes inferior displacement of lateral fragment of clavicle?
weight of arm and pectorals major muscle
Which antibody does not cross the placenta
IgM
Which antibody does cross the placenta
IgG
With maternal blood types A and B do erythroblastosis fetalis and hemolytic disease of the newborn occur? why?
no
- antibody A or B are IgM
- does not cross the placenta
With maternal blood type O do erythroblastosis fettles and hemolytic disease of the newborn occur? why
yes
- antibodies are predominantly IgG
- cross placenta
Hypo-acetylated histones bind to what? what happens
DNA
- prevent transcription of genes
Role of histone acetylation
- relaxes DNA coiling
- allowing for transcription
In huntington disease, abnormal huntingtin causes what process in the genome? This causes what
histone deacetylation
- silencing genes necessary for neuronal survival
Crescent formation on light microscopy is diagnostic of what disease
rapidly progressive glomerulonephritis
The crescents in rapidly progressive glomerulonephritis consist of what
- fibrin
- glomerular parietal cells
- monocytes
- macrophages
What is the cause of open-angle glaucoma
elevated intraocular pressure
Where does Timolol, betaxolol, and carteolol work on the eye
- decrease humor synthesis at ciliary epithelium
How does Acetazolamide work at the eye
- decreases aqueous humor at the ciliary epithelium
How do Prostaglandin F2 alpha and cholinomimetics work at the eye
- decrease intraocular pressure by increasing outlaw of aqueous humor
Who produces aqueous humor in the eye
epithelial cells of ciliary body
Essential fructosuria , what goes wrong
fructokinase deficiency
How does fructose get metabolized in fructosuria
fructose –> via hexokinase –> fructose-6-phosphate
- enters glycolysis
Fructose is normal phosphorylated by what? making what
- fructokinase
- fructose-1-phosphate
what are symptoms for fructokinase deficiency
asymptomatic
What is wrong in fructose intolerance
- aldolase B deficiency
- build up of toxic fructose-1-phosphate
Define Sciatica
nonspecific term for lo back pain that radiates down the leg due to compression of lumosacral nerve root
- S1 nerve root in most common
Characterize S1 radioculopathy
- pain and sensory loss down posterior thigh and calf to the lateral aspect of foot
- weakness on thigh extension
- absent ankle jerk reflex
L2 or L3 radiculopathy characterize
- pain radiating down anterior thigh with weakness on hip flexion
Acute bacterial arthritis in sexually active young adults is commonly caused by what
Neisseria gonorhoeae
Neisseria gonorrhoaea is facultative intracellular cells seen in what type of cell
neutrophils
Someone with low body weight, intense fear of becoming fat, and distorted body image
Anorexia nervosa
lanugo
fine, soft hair covering body/limb
When do you see lanugo
anorexia nervosa
At age 3, a child is expected to do what
- play imaginatively in parallel
- speak in simple sentences
- copy a circle
- use utensils
- ride a tricycle
An increase in estrogen activity, as seen in pregnancy or post-menopausal estrogen replacement therapy, increases levels of what molecule?
Thyroxine-binding globulin
- increase total thyroid hormone
why does feedback control remain normal in increase thyroxine-binding globulin production from increase estrogen
level of free thyroid hormone remains normal
What are signs of patella fracture
- acutely swollen knee
- focal petella tenderness
- inability to extend the knee against gravity
- palpable gap in extensor mechanism
What is the patellar reflex
- L3, 4 kick the door
What are 2 common ways to get a patella fracuture
- direct blow
- excessive force
young, asymptomatic patient with a soft systolic ejection murmur at the right intercostal space most likely has what heart problem
bicuspid aortic valve
What causes overflow incontinence
impaired detrusor contractility or bladder outlet obstruction
Diabetic autonomic neuropathy is common in type 1 diabetics and can cause what bladder problems and how
- overflow incontinence
- inability to sense a full bladder and incomplete emptying
What is gastroparesis? who is it usually seen in
- delayed gastric emptying
- diabetic neuropathy
What can confirm inadequate bladder emptying in overflow incontinence ?
- increased postvoid residual (PVR) testing with ultrasound or catheterization
Another name for Neurofibromatosis type I
Recklinghausen disease
What is wrong in Neurofibromatosis type I
mutation in NF1 tumor suppressor gene
Neurofibromatosis type I have cutaneous neurofibromas comprised of what? embryologically derived from
- Schwann cells
- neural crest
In Males, LH stimulates what
-release of testosterone from Leydig cells of the testes
in males, FSH stimulates what
- release of inhibit B from Sertoli cells in seminiferous tubules
What has a negative feedback on LH in males
testosterone
What has a negative feedback on FSH in males
inhibin B
What is the main adverse effect seen with nitrate therapy
- headaches and cutaneous flushing along with lightheadedness
- hypotension due to systemic vasodilation
what cell cannot use ketones as an energy source? and why?
erythrocytes due to lack of mitochondria
what is N-formyl-tetrahydrofolate another name?
foiling acid
leucovorin
