Block 1 -clinical correlations- Q&A Flashcards by Tarryn Tertulien

Will a patient breathe faster or slower if she has diabetic ketoacidosis?

faster to “blow off” CO2

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What ion will be lost in the urine with excess protein intake?

Ca2+, can lead to osteoporosis

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A swollen abdomen, reddish hair, and depigmented skin indicate what deficiency?

protein (Kwashiorkor)

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Inadequate calories in excess of inadequate protein intake is what condition?

Marasmus

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Stress of critical illness leads to hyper or hypometabolism?

hypermetabolism, sick pt is catabolic

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Does administering cardiac glycosides (ouabain, digitalis) help/hurt a patient with cardiac arrest?

helps; inhibit Na/K pump by binding K binding site, depolarize cells, alleviate heart attack

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What is furosemide’s effect on the Na, K, Cl cotransporter? How will this affect urine output?

inhibition, less water is reabsorbed so more goes out in urine (diuresis)

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Epidermolysis bullosa simplex is a mutation in what gene, and what are the symptoms?

keratin, epidermal cell blistering under pressure

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What disease is caused by deficiency of enzyme responsible for phosporylating mannose residues to M6P in Golgi? What are the clinical manifestations?

Inclusion-cell (I-cell) disease or mucolipodosis II (ML II); coarse facial features, skeletal abnormalities and mental retardation. lysosomal storage disease–> accumulation of mucolipids and mucopolysaccharides within cells

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What are two “prototype” lysosomal storage diseases?

I-cell disease, Tay-Sachs disease

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A child presents with mental retardation, blindness, and excess gangliosides in the brain -likely diagnosis?

Tay-Sachs disease (missing Hexosaminidase A)

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A patient is blind and has a mutation in NADH dehydrogenase in the inner mitochondrial membrane - likely diagnosis?

Leber’s Hereditary Optic Neuropathy (maternally inherited). mutation in NADH dehydrogenase–>blocks ETC–>ATP production blocked–>nerve degeneration

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A pt has high levels of iron and copper in his blood, and there appears to be import malfunctions in his peroxisomes -likely diagnosis?

Zellweger’s Syndrome (accumulation of toxins, hepatomegaly, fatal in infancy)

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Accumulation of long chain fatty acids in the brain (destroying myelin) and in adrenal glands (deficiency of adrenal steroid hormones) is a disorder of which organelle?

Peroxisomes (neonatal adrenoleukodystrophy)

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One form of Charcot-Marie-Tooth (CMT) neuropathy involves mutation of what motor molecule and what are the consequences?

mutated kinesin in axons => axonal degeneration

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What condition results from defects in kinesin affecting transport in retinal cells?

retinitis pigmentosa

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Mutations in myosin-VI causes what condition in mammals?

deafness

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The anesthetic lidocaine inhibits what motor molecule in axons?

kinesin - stops forward transport of NT to synapses

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The herpes virus uses which motor molecule to move along microtubules?

kinesin

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Name two diseases that involve mutation in kinesin molecules.

CMT neuropathy, retinitis pigmentosa

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Humans lacking (inner and outer) dynein arms have _________. What are the symptoms?

Immotile Cilia Syndrome; They cannot clear mucus with inhaled
particles from their respiratory epithelia, and they have recurrent lung infections. Men with this are infertile.

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Polymerization of which cytoskeletal component propels the bacterium Listeria?

Actin polymerization extending leading edge of cells

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Colchicine, vinblastine, and vincristine bind to ________________ and what is the result?

tubulin dimers, dissasembly w/o assembly so microtubules shorten, inhibit mitosis

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Taxol binds to ____________ and what is the result?

microtubules, assembly w/o dissasembly so excessive microtubules, inhibit mitosis

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Vinblastine, vincristine, and taxol are used to treat _______ by inhibiting ________.

cancer; mitosis

What are four intermediate-filament related disorders?

Amyotrophic Lateral Sclerosis (ALS), desmin-related myopathy, epidermolysis bullosa simplex, progeria

What cytoskeletal component is abnormal in Amyotrophic Lateral Sclerosis (ALS)? What does this cause?

abnormal neurofilaments (intermediate filament), damage axonal structure

A patient's intermediate filaments are too weak, causing muscle fibers to become disorganized. Possible diagnosis?

desmin-related myopathy

What condition is caused by mutations to the proteins of the nuclear lamina?

progeria (premature aging in children)

A patient exhibits swelling, redness, and itching on skin and eventually goes into anaphylactic shock. What connective tissue cell caused this reaction?

degranulation of mast cells

Marfan syndrome is a genetic disease due to mutation of which gene? What connective tissue component is involved?

fibrillin gene, abnormal elastic fibers (tall, long limbs, aortic aneurysms, dislocation of lens of the eye)

You want to measure bone age in a young patient; what part of the body do you take an x-ray of?

hand/wrist - observe ossification of carpal bones and appearance of phalangeal epiphyses

Blood calcium and phosphate levels are direct/indirect markers of bone metabolism?

indirect

Serum alkaline phosphatase and serum osteocalcin are products of which cell?

osteoblasst products (markers of bone formation)

Urinary collagen telopeptides and urinary hydroxyproline (from collagen) are markers of bone formation/resorption

resorption (osteoid break-down products)

What hormone activates osteoclasts indirectly through secretion of soluble factors form osteoblasts?

Parathyroid Hormone (PTH)

What hormone activates osteoblasts and inhibits osteoclasts, and is required for growth plate maturation?

Estrogen

What axis stimulates proliferation of growth plate chondrocytes and production of matrix?

GH/IGF-I Axis

What vitamin is involved in calcium absorption and bone remodeling?

Vitamin D

What hormone reduces serum calcium in part by inhibiting osteoclast activity?

Calcitonin

Achondroplasia is an autosomal dominant growth disorder resulting from a defect in what gene?

FGFR3 (Fibroblast Growth Factor Receptor 3 gene) - abnormal growth plates

Both gigantism and acromegaly are disorders resulting from excess growth hormone. What is the difference between the two?

Gigantism-before growth plates have fused; Acromegaly-after (pt can be of normal height, but coarse joints/facial features)

Both osteomalacia and rickets involve "soft" bones due to poor mineralization of newly formed osteoid; what is the difference between the two?

Rickets is osteomalacia of growing bones (leads to bowing of the legs)

What are 5 risk factors for secondary osteoperosis (any age) in men and women?

estrogen deficiency (in women), extensive use of glucocorticoids, alcoholism, smoking, sedentary lifestyle

Low BMD (Bone Mineral Density) due to imbalance of bone formation and resoprtion is called what?

osteoperosis

If you want to measure bone bass relative to average for persons of the SAME age/race/gender of pt, would you use T score or Z score?

Z score

Osteogenesis Imperfecta is a heritable disease most often due to abnormalities of what connective tissue component resulting in brittle bones?

abnormal osteoid; Type 1 collagen (Brittle Bone Disease)

Name the X-linked dominant disorder characterized by extreme hypophosphatemia, renal phosphate wasting, impaired intestinal absorption of Ca and P, and rickets.

X-linked Hypophosphatemic Rickets (treatment: supplement phosphorus in diet)

What condition is characterized by osteopenia, big liver, red hair, high ammonia due to low activity of urea cycle (absent ornithine, citrulline in blood) and poor bone formation?

Lysinuric Protein Intolerance

What are two reasons for the phenonmenon of rigor mortis after death?

1. no ATP to release bound myosin heads 2. no ATP to pump cytosolic Ca2+ back into SR

Where in DNA does the anticancer drug dactinomycin bind?

intercalates into the minor groove

What DNA repair mechanism is involved in colorectal cancer? What gene is responsible?

mismatch repair, MSH2

What DNA repair mechanism is involved in repairing pyrimidine dimers caused by UV light?

Nucleotide Excision Repair

Xeroderma Pigmentosum is a genetic deficiency in which DNA repair machinery?

nucleotide excision repair

Name two diseases that involve misfolded proteins.

Alzheimer's, Creutzfeldt-Jacob disease (prion)

Most forms of Elhers-Danlos Syndrome involve mutations in a form of which connective tissue component?

collagen

Mutations at DNA splice sites account for what percentage of all genetic diseases?

15.00%

For a pt with myasthenia gravis, would you prescribe inhibitors or promoters of acetylcholinesterase?

inhibitors (Ach receptor channels are destroyed; want to keep more Ach in cleft)

How are the neurotoxins alpha-bungarotoxin and curare similar and different?

both block Ach receptor channels; alpha-bungarotoxin effects are irreversible

Does botox disrupt EPP pre or postsynaptically? What is the mechanism?

presynaptically, botulinum toxin A in botox breaks down SNARE proteins needed for synaptic vesicle fusion

The body can make non-essential amino acids with the help of which vitamin?

Vitamin B6

What are the 10 essential amino acids?

valine, phenylalanine, methionine, arginine, tryptophan, threonine, histidine, isoleucine, lysine, leucine

A change in the number of CAG (glutamine) repeats leads to which neurodegenerative genetic disorder?

Huntington's Disease

What are four antibiotics that inhibit translation?

chloramphenicol (inhibits peptide bond formation), erythromycin (blocks E site), tetracyclines (affect tRNA binding), neomycin (bind decoding region of small subunit)

A patient with muscle weakness, paralysis, or coma has hyper or hypocalcemia?

hypercalcemia (elevated threshold due to fewer open Na+ channels)

A patient with hyper-reflexia, spontaneous twitching, muscle cramps, tingling, and numbness has hyper or hypocalcemia?

hypocalcemia (Na+ channels open at less positive voltages)

A patient with muscle twitches, seizures, and asphyxiation due to spastic contraction of respiratory muscles has hyper or hypokalemia?

hyperkalemia (elevation in extracellular K+ leading to more positive Vm

A patient with muscle weakness and paralysis has hyper or hypokalemia?

hypokalemia (decreased extracellular K+ leading to hyperpolarization)

Does hyper or hypokalemia lead to cardiac arrhythmias?

both hyperkalemia and hypokalemia can lead to cardiac arrhythmias

The common symptoms of hypokalemia and chronic hyperkalemia can resemble hyper or hypocalcemia?

hypercalcemia (all can manifest as depressed excitability of nerve and muscle)

For a patient undergoing shock, would anion gap increase or decrease?

increase (anaerobic metabolism, lactate increases, CO2 levels drop)

You place an IV in a patient and administer saline into a vein. What happens to the volume of the vascular compartment?

Initial increase, then NaCl equilibriates between vascular and rest of extracellular compartment, increasing all extracellular fluid causing tissue swelling

A patient has respiratory alkalosis. Would you tell them to breathe faster or tell them to breathe into a paper bag?

breathe into paper bag (need to increase CO2 inspiration to decrease blood pH)

For a patient with diabetic ketoacidosis, would anion gap increase or decrease?

increase

A patient suffers from hyponatremia (low serum sodium) due to diarrhea; how should he be treated?

IV NaCl to replenish electrolytes

A patient appears only mildly dehydrated but is moribund and has hypernatremia (high serum sodium); how should she be treated?

IV fluids with excess water (serum sodium high so extracellular fluid volume is high)

Defects in which cytoskeletal element lead to polycystic kidney disease (overproduction of kidney cells leading to kidney failure)?

microtubules (primary cilia - failure to monitor fluid movement)

Alpha-amanitin found in some poisonous mushrooms inhibits which component involved in transcription?

RNA Polymerase II

Vitamin C deficiency leads to_____ because of ______________.

scurvy; synthesis of defective collagen

Name two cancer drugs that inhibit mitosis by depolymerization of microtubules.

Vinblastine and vincristine

What cancer drug inhibits mitosis by increasing assembly of microtubules in the absence of disassembly?

Taxol

Block 1 -clinical correlations- Q&A Flashcards

(81 cards)