M/N Flashcards
Lesh Nyhan leads to what type of anemia
megablastic
what is the main feature of megablastic anemia
hypersegmented nuclei
what is seen in a RBC smear in someone with lead poisoning
basophilc stippling
acanthocytes are seen in a RBC from a patient with what condition
abetalipoproteinemia
schistocytes are seen in a RBC from a patient with what condition
disseminated intravascular coagulation
what is the chemical reaction of aldolase B, the enzyme deficient in essential fructose intolerance
fructose 1P–>DHAP+glyceraldehyde
male internal genitalia, virilized female external genitalia (clitoromegaly), and male nongenital development at puberty (muscle mass). what enzyme is deficient
5 alpha reductase
Burton lines (blue lines along the gums) are characteristic of __
lead poisoning
The __ release leads to bronchoconstriction in asthma
leukotriene C4
____ is instrumental in modulating and inhibiting behaviors. Levels have been shown to be low in people who are impulsive and/or repeatedly violent
serotonin
neurotransmitter involved in the brain’s consolidation of memories
acetylcholine
neurotransmitter involved in motivation and the initiation of behavior
dopamine
___ deficiency most often leads to high androgens (virilization) and decreased mineralocorticoid levels, causing hypotension, volume depletion, hyponatremia, and hyperkalemia
21-Hydroxylase
what is the main mineralcorticoid
aldosterone
Symptoms of Chédiak-Higashi syndrome include (4)
albinism
recurrent infections
peripheral neuropathy
easy bruising
Niemann-Pick disease, caused by _____ deficiency
sphingomyelinase
Gaucher disease is a lysosomal storage disease due to a deficiency in ____
β-glucosidase (glucocerebrosidase)
Krabbe disease is due to a deficiency in ____
galactocerebrosidase
___ deficiency presents with hemolytic anemia as a result of oxidative challenge, for example, taking sulfa drugs
G6PD
CF is an autosomal recessive genetic disorder due to a ___ CFTR membrane protein leading to dysfunction of Na+ and Cl– membrane transport
misfolded
____ deficiency causes Fabry disease
α-Galactosidase
____ deficiency causes Gaucher disease
β-Glucocerebrosidase
____ deficiency causes McArdle disease
Glycogen phosphorylase
___ is the substrate for NADPH oxidase
Oxygen
___ is the substrate for myeloperoxidase
Hydrogen peroxide
____ is the substrate for superoxide dismutase, which converts it into hydrogen peroxide.
Superoxide
organophosphates inhibit ___ which leads to an accumulation of __ in the cytosol
acetylcholinesterase
IP3
__ and __ inhibit PFK-1, the rate limiting enzyme of glycolysis
ATP
citrate
A patient is diagnosed with a deficiency in acetyl-CoA carboxylase. What metabolite is most likely to be deficient in this patient?
malonyl CoA
Acetyl-CoA carboxylase catalyzes the rate-limiting step of fatty acid synthesis, the carboxylation of acetyl-CoA to malonyl-CoA, a substrate for fatty acid synthase.
In COPD, the inability to exhale completely leads to a build-up of CO2 in the lungs and blood, causing an accumulation of what enzyme
carbonic anhydrase
Developmental regression, hearing loss, abdominal pain, vomiting, and constipation and an elevated levels of erythrocyte protoporphyrin are characteristic of ___
lead poisoning
During the fasting state, and even more so during starvation, glucagon activates what enzyme in the liver, thereby stimulating gluconeogenesis
fructose-1,6-bisphosphatase (FBPase-1)
Which mechanism involved in muscle contraction is most directly impaired with lack of ATP
release of actin from myosin
Deficiency in ____ is associated with metachromatic leukodystrophy, which leads to neurologic symptoms, including gait abnormalities, developmental delay, behavioral changes, and memory problems, as well as optic atrophy
arylsulfatase A
___ deficiency is associated with Krabbe disease, which results in optic atrophy, spasticity, and early death.
Galactosylceramide
Type III collagen helps form ___
the walls of arteries and digestive tract
Type I collagen is an important component of ____
bones, skin, and tendons
What mechanism describes how exercise will reduce this patient’s hyperglycemia
Exercise results in both upregulated expression of the glucose transmitter type 4 (GLUT4) protein and increased translocation of GLUT4 to the cell surface from intracellular stores, increasing cellular glucose uptake
endorphins bind to what type of receptors
GPCR
Hartnup disease is characterized by dermatitis, diarrhea, and dementia. What amino acid is involved
tryptophan
decreased C peptide and hyperglycemia is evident of what disease
type I diabetes
the hormone that causes type one diabetes is stored in what organelle
rough ER (insulin)
normal carboxyhemoglobin, decreased blood pH, and nonresponsive hypoxemia is evident of CO or cyanide poisoning from a house fire
cyanide
*normal carboxyhemoglobin= cyanide poisoning
during an allergic reaction, what receptors are activated, why
GPCR (CCC pathway) due to release of histamine
bronchodilators such as albuterol used for asthma act with what receptor
Gs
___, also known as “lecithin,” is the dominant component of pulmonary surfactant, which may be given to neonates with neonatal respiratory distress syndrome (NRDS) at birth
Phosphatidylcholine
T hemoglobin predominates in environments with low-oxygen tension. Such environments include ____
peripheral capillaries
R hemoglobin form predominates in environments with high-oxygen tension, such as the __, __, __, and __
pulmonary capillary bed
coronary arteries
femoral arteries
pulmonary veins
severe diarrhea leads to loss of ___
HCO3-
foam cells
disease and what accumulates
Niemann Pick
sphingomyelin
with gel electrophoresis, where at what end will HbC been seen, why
near - end because it contains a positively charged lysine
Cutis aplasia is characteristic of ___
trisomy 13 (Patau syndrome)
type 1 diabetes, type 2 diabetes, hypertension, androgenic alopecia, atopy, psoriasis, schizophrenia, and Alzheimer disease are all associated with what genetic phenomenon
polygenic inheritance (a trait controlled by the interaction of two or more genes at different loci, without interaction with the environment)
In both liver and muscle, epinephrine binds a beta-adrenergic G protein-coupled receptor, activating a second messenger cascade that results in the promotion of glycogenolysis (glycogen breakdown) and inhibition of glycogenesis (glycogen synthesis).
recurrent respiratory infection
nail bed clubbing
increased liver enzymes
cystic fibrosis
low 17 alpha enzyme= high or low BP
high
Colchicine, an anti-inflammatory drug works by ___
inhibiting microtubule polymerization
what medication is commonly prescribed for rheumatoid arthritis
methotrexonate
sideroblastic anemia occurs due to a deficiency in __
B6
Hematuria, flank pain, hypertension, and bilaterally enlarged cystic kidneys suggest a diagnosis of _____
autosomal dominant polycystic kidney disease (ADPKD)
Autosomal dominant polycystic kidney disease (ADPKD) results from a mutation in the PKD-1 gene on the short arm of chromosome ___
16
Why is administration of B1 given before dextrose in a patient with B1 deficiency (ex: in Wernicke encephalopathy)?
to ensure alpha ketoglutarate dehydrogenase will be working. This will prevent the patient from going into lactic acidosis
alpha ketoglutarate dehydrogenase used vit B1 as a cofactor
testicular hypoplasia
impaired fertility
gynecomastia
tall, slender stature
Klinefelters
amino acid with a ring structure in its R group and two nitrogen molecules
histidine
N-acetyl-p-benzoquinoneimine (NAPQI) is a toxic breakdown product of acetaminophen. At therapeutic doses, glutathione acts to inhibit toxic NAPQI. However, in cases of acetaminophen overdose, glutathione reserves are depleted and concentrations of NAPQI build up, ultimately leading to ____
acute liver failure
Waterhouse-Friderichsen syndrome is a rare but potentially lethal complication of infection by ___
N. meningiditis (meningococcal meningitis)
carbol fuchsin staining is used to stain what bacteria
mycobacterium (ex: nocardia)
non-lactose fermenting, oxidase-positive, gram-negative rod
pseudomonas aeruginosa
Zidovudine is a nucleoside reverse transcriptase inhibitor used for ___
HIV and post exposure HIV prophylaxis in neonates
what is the function of protein A of staph aureus
binds to Fc of IgG, preventing opsonization and phagocytosis
staph. aureus is able to cause food poisoning due to a release of ___
endotoxin
one sided leg weakness
no childhood vaccines
increased protein level
poliovirus
high ADH, low plasma osmolarity can be caused by __
SIADH (syndrome of inappropriate antidiuretic hormone)
acute intermittent porphyria (AIP) has what inheritance pattern
autosomal dominant
severe alpha 1 antitrypsin deficiency has the genotype
PiZZ
normal level of alpha 1 antitrypsin has the genotype
PiMM
A positive reducing substance urine test along with a negative glucose oxidase test indicates the presence of a ____ in this infant’s urine
sugar other than glucose
Ingestion of improperly prepared pufferfish can result in intoxication with ___
tetrodotoxin
Tetrodotoxin, a toxin found in improperly cooked pufferfish, acts by ____
blocking voltage-gated sodium channels
breastmilk is low in what vitamin or mineral?
vitamin K
duodenal atresia
atrioventricular septal defect
leukocytosis
Down syndrome
What is the pathogenesis behind myasthenia gravis?
type II HSR against acetylcholine receptors
to treat alcohol poisoning, the drug prescribed acts to ___
inhibit alcohol dehydrogenase
short stature
midface retrusion
prominent forehead
nose flattening
disproportionate extremity length
achondroplasia
examples of complete penetrance are
achondroplasia
neurofibromatosis type I
Huntingtons
high niacin can lead to what adverse effect
facial flushing
Cimetidine drug has what effect
increases cAMP
Rett syndrome is characterized by __ (4)
progressive loss of motor and speech skills
hand wringing
ataxia
failure to thrive
what molecule stimulates histone acetylation
retinoic acid (vitamin A)
Increased ratio of NADH/NAD+ inhibits the citric acid cycle, which results in an accumulation of acetyl-CoA. NADH and acetyl-CoA are both ____ products and thus inhibit _____ activity.
pyruvate dehydrogenase reaction
pyruvate dehydrogenase
heme oxygenase breaks down heme to __
biliverdin
Involuntary facial muscle contractions when tapping on the cheek (Chvostek sign) is seen in what condition
hypocalcemia
osteopenia with an epiphyseal widening of the wrist are suggestive of ___
rickets (vitamin D deficiency)
decreased vitamin D= __ serum calcium, __ serum phosphate, __ serum PTH
decreased vit D= decreased calcium, decreased phosphorus, increased PTH
Kernicterus occurs to the deposition of unconjugated bilirubin in the basal ganglia. This occurs due to impaired ___
glucuronidation of bilirubin
Neurophysins are carrier proteins that transport the hormones ___ and ___ to the posterior pituitary gland from the paraventricular nucleus and supraoptic nucleus of the hypothalamus
oxytocin and vasopressin
Carbon monoxide has high affinity for what enzyme of the ETC? What complex is this?
cytochrome c oxidase
complex IV
What state leads to an increase in stool osmotic gap?
osmotic diarrhea (ex: lactose intolerance)
Abdominal pain, swelling of the extremities (without urticaria or pruritus), and dyspnea secondary to edema of the lips and tongue after a triggering incident (dental work). These findings, together with a family history of recurrent orofacial swelling, are indicative of ___
hereditary angioedema (HAE)
hereditary angioedema (HAE) is caused by a deficiency of ___
C1 esterase inhibitor (suppresses complement)
Treatment for hereditary angioedema (HAE) includes use of a ____
antagonist at bradykinin receptor
what vitamin is used for differentiation of epithelial cells
vitamin A
Post blood transfusion can lead to hypocalcemia due to ___
chelation of calcium by citrate
Keloids form as a result of __ and __
trauma
excess tissue growth
Keloids are the result of overproduction of __
hyalinized cartilage due to hyperproliferation of fibroblasts
decreased production of 1,25 dihydroxycalciferol can be due to __ failure
kidney
excessive burns lead to hyper___
hyperkalemia (high K+)
(any cause of significant tissue breakdown (e.g., significant burn or crush injuries), releases excess potassium into the extracellular space)
CO competitively binds to ___
heme
in pregnancy, increased __–>increased insulin–> increased C peptide
human placental lactogen
desmopressin is an analog of vasopressin which acts as an ____
antidiuretic hormone
desmopressin uses what receptor type
Gs (increased adenylate cyclase)
what enzyme of DNA replication results in single stranded DNA breaks
topoisomerase I
treatment for hypertension= lisinopril
lisinopril acts as an inhibitor of ___, which acts to produce NO
ACE
female patient with acute lymphoblastic leukemia now has genotype XY, why
she received a blood transfusion from a sex type mismatch
aminotransferase enzymes use what as a cofactor
B6
Failure to thrive, muscle spasticity, weakness, developmental delay, and history of seizure, in combination with laboratory findings of mild hyperammonemia and increased urinary orotic acid, are concerning for a diagnosis of ___
arginase deficiency
Recurrent respiratory infections, fat malabsorption, and failure to thrive are concerning for ____
cystic fibrosis
what is physiological pH
7.35-7.45
increased anion gap–>high or lower pH
lower
metyrapone stimulation testing is used to detect pituitary dysfunction that results in impaired ___ secretion
ACTH
alternative splicing performed by spliceosomes are involved in post-transcriptional or post-translational modification?
post-transcription
encapsulated lipid nanoparticle= what type of vaccine
mRNA
wrinkles are due to a decrease in what fibers
elastin
myeloperoxidase is used to clear what main infection
candida albicans
positive nitroblue test indicated NADPH oxidase is or isn’t working
is
vomiting results in:
__K+
__Na+
__Cl-
__Ca+
decreased
decreased
decreased
decreased
Rapidly worsening vision
circumpapillary telangiectasia on fundoscopy
mutation affecting the mitochondrial electron transport chain
Leber hereditary optic neuropathy
*mitochondrial inheritance
what does peripheral 5’-deiodinase do
converts the less potent T4 into the biologically active T3
zinc deficiency can be seen as ___ and __
patch of hair loss
abnormal smell/taste
murmur increases in intensity when moving from a squatting to standing position, decreases when clenching fists
hypertrophic cardiomyopathy
hypertrophic cardiomyopathy defect
myosin heavy chain
multiple cancers in the family at a young age
Li-Fraumeni syndrome
Multiple cancers in the family at an early age represents Li-Fraumeni syndrome. Li-Fraumeni syndrome is due to ____
loss of heterozygosity in p53
Sensorineural hearing loss in a patient with renal disease and a positive family history is indicative of _____
Alport syndrome
aspirin and ibuprofen inhibit COX, inhibiting the conversion of __ to __
arachidonic acid–>prostaglandin G2
what inheritance pattern is Wilson’s disease
autosomal recessive
hypothyroidism leads to a decreased production of vitamin __
A
Rb gene mutation leads to an increased risk of developing __
osteosarcoma
muscle spasms of the hands and feet are due to a decrease of what hormone
parathyroid
collagen is composed on a __ structure
triple heliz
collagen is composed on a __ structure
triple helix
increased concentrations of metanephrine and vanillylmandelic acid with high blood pressure can be due to a tumor that secretes ___
epinephrine
