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EoM: Exam 3 > Clinical > Flashcards

Clinical Flashcards

1
Q

What has a direct stimulatory effect on adenylyl cyclase?

A

forskolin

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2
Q

What is something that inhibits phosphodiesterase?

A

caffeine

Think: some people may DIE without caffeine. (phosphoDIEsterase)

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3
Q

What signaling molecule is a:

a) β-adrenergic receptor agonist
b) β-adrenergic receptor antagonist

A

a) isoproterenol

b) propranolol

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4
Q

Loss or gain of function mutations in Gsα can be caused by what?

(don’t think too specific)

A

rare endocrine disorders

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5
Q

What enters intestinal epithelial cells and induces covalent modification of Gsα, blocking its intrinsic GTPase activity? (Note: this causes Gs to stay constantly active.)

A

cholera toxin

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6
Q

What toxin covalently modifies Gαi to stay in the GDP form?

A

pertussis toxin

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7
Q

What channel has binding sites for both drugs and toxins?

A

Voltage-gated Calcium channel

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8
Q

What drug inhibits ryanodine receptors?

A

ryanodine

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9
Q

What are two examples of drugs that bind to specific steroid hormone receptors, blocking the actions of that hormone? And to which receptors are these drugs an antagonist for?

A

flutamide: androgen receptor antagonist

RU486: progesterone receptor antagonist

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10
Q

What is the disease?
-results from ND problem in MI or MII, most common retardation, flat nasal bridge, low set ears, protruding tongue, Brushfield spots, short, transverse palmar crease, clinodactyly, heart problems, premature Alzheimer’s, and incr. risk of leukemia; males infertile

A

Trisomy 21 or Down Syndrome

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11
Q

What are the different ways that Down syndrome can be transmitted?

A

meiotic ND (most)
unbalanced Robertsonian translocation or isochr. 21 (hereditary)
trisomy mosaics (can be hereditary)
duplication

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12
Q

What is the disease?
clinically severe, lethal in almost all cases by 6 mos. of age, 1/2 die by 1st month; maternal MI ND; advanced maternal age is an issue; severe CNS issues, growth and mentally retarded, cleft lip and palate, ocular issues, polydactyly, clenched fists, and rocker-bottom feet

A

Trisomy 13

Kids are teenagers at age 13. They increasingly get mad at their parents, clenching their fists while doing so.

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13
Q

What is the disease?
postnatal survival poor, mental retardation, failure to thrive, heart problems, hypertonia, clinched fists w/ overlapping fingers in specific pattern, rockerbottom feet, and distinctive dermal patterns

A

Trisomy 18

Teens are adults at 18. Not only do they clinch their fists when they get mad, but now they use the finger too. (Trisomy 18, clinched fists w/ specific finger pattern.)

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14
Q

What three diseases have an increased risk of occurring as maternal age also increases?

A

Trisomies 21, 13, and 18

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15
Q

What is the disease?
XXY if not more X’s, wide range of sexual development and intelligence, tall and lanky, larger breasts, can be mosaic inheritance, nonmosaics are sterile

A

Klinefelter Syndrome

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16
Q

What is the disease?

tall but normal male, behavioral problems, paternal ND at MII

A

47 XYY Syndrome

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17
Q

What is the disease?

normal fertile female, above average stature, learning problems, maternal MI errors

A

Trisomy X (47, XXX)

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18
Q

What is the disease?
female, short, webbed neck, shield chest, infertile, normal intelligence, rare behavior issues, no Barr body, all X-linked recessive alleles expressed, usually results from loss of X or Y from Dad

A

Turner Syndrome (45, X)

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19
Q

What reciprocal translocation chromosome causes chronic myelogenous leukemia?

A

Philadelphia chr.; 9q22q

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20
Q

What is the disease?

terminal deletion on 4p chr., severe mental retardation, failure to thrive, very rare

A

Wolf-Hirschhorn syndrome

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21
Q

What is the disease?
terminal deletion on 5p, microcephaly, micrognathia, hypertelorism, high pitched distinctive “mewing” cry, severe mental retardation, very rare

A

Cri-du-chat Syndrome

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22
Q

What is an example of a disease that results from a microdeletion?

A

DiGeorge syndrome; 22q11

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23
Q

What is the disease?

tumors in eyes, ears, pancreas, kidney, brain, and spine

A

Von Hippel-Lindau

Think of Makenzie HATFIELD Kresch. Some of her kinfolk have tumors in their eyes. She wants to be an ophthalmologist, to help them out, obviously. I don’t know if we need to know this, but there you go.

24
Q

What is the disease?

tumors of the adrenal gland

A

pheochromocytomas

Again, think of Makenzie HATFIELD Kresch. I’m not coming up with a good mnemonic for this though.

25
Q

What is the disease?
AD, renal cysts that lead to progressive renal failure and cysts in liver and pancreas, cerebral aneurysm, mitral valve prolapse, late onset in 40’s and 50’s

A

Polycystic Kidney Disease; caused by PKDI gene mostly; PKDII also

runs fairly dominant in my family; no joke; good mnemonic though

AR form exists

26
Q

What is the disease?
AR, severe mental and physical deterioration, death by 2-3 years due to ganglioside buildup in neurons, cherry red spot on retina, prevalent in Ashkenazi Jews

A

Tay-Sachs

27
Q

What is the disease?
AR, mental retardation, fair skin, eczema, epilepsy, preventable w/ prompt diet change upon diagnosis, prevalent in caucasians, mutations in liver enz. phenylalanine hydroxylase gene

A

PKU

28
Q

What is the disease?
XR, coagulation disorder (inability to clot, leading to hemorrhaging into joints and muscles, even from minor injuries), mutation of clotting factor VIII

A

hemophilia A

During the movie on hemophilia, we all wished that Delidow would eXit the room. (hemophilia: XR)

29
Q

What is the disease?
XR, progressive muscle weakness, pseudohypertrophy of calf muscles, onset early in childhood, death by 30’s, mutation in dystrophin gene

A

Duchenne muscular dystrophy

Gene mutation gives it away, so does the “muscles getting weaker” part.

30
Q

What is the disease?
XD, mental retardation, normal initial development followed by rapid decline in progression plus onset of ataxia and dementia from 18 mo.-3 yrs., seizures in half, methyl-CpG-binding protein 9 gene mutation

A

Rett syndrome

Rhett Butler comes to mind. He loved his women. Rett syndrome affects females 2x as much.

31
Q

What is the disease?

XD, ability of kidney to reabsorb phosphate is decr., leading to a word that forms part of the disease name

A

hypophosphatemic rickets (Vitamin D resistant rickets)

32
Q

Rett syndrome and hypophosphatemic rickets are both X-linked dominant. What is a third disease that follows the same inheritance pattern?

A

hypertrichosis

Tri = 3, third disease of XD

33
Q

What is the disease?
mitochondrial; rapid, bilateral loss of central vision due to optic nerve death in young adults; affects both sexes, more severe in males; rare

A

Leber’s hereditary optic neuropathy (LHON)

34
Q

What is the disease?

mitochondrial, external ophthalmoplegia, pigmentary degeneration of retina and cardiomyopathy, rare, onset before age 20

A

Kearns-Sayre syndrome (KSS)

35
Q

LHON and KSS are mitochondrial inherited diseases. What is another disease with the same inheritance pattern?

A

myoclonic epdepsy and ragged red fiber disease (MERFF)

36
Q

Positional cloning was used to find the causative gene of what disease? Hint: It’s inherited AR and its clinical triad is exocrine pancreatic insufficiency, COPD, and an incr. in Na and Cl conc. in sweat.

A

Cystic Fibrosis, caused by mutation in CFTR gene

37
Q

What drug stabilizes microtubules, prevent disassembly? This interferes with the ability of the microtubules to align the chromosomes on the metaphase plate and to move chromosomes to spindle poles. For this reason, it has been used as a chemotherapy agent to prevent proliferation of cancer cells.

A

paclitaxil (taxol)

38
Q

What diseases have excessive/inappropriate apoptosis?

spells CAINE

A 
cardiovascular disease
AIDS
immune deficiency diseases
neurodegenerative diseases
emhysema
39
Q

What diseases have too little apoptosis?

A

cancer

autoimmune diseases

40
Q

What is the disease?
AD, pigmentary disturbance, wide nasal bridge, cochlear deafness, PAX-3 gene; mutations: truncation, splicing abnormalities, inactivation of DNA binding region, deletions, and insertions

A

Waardenburg syndrome

41
Q

The following diseases are examples of what kind of mutations in regulatory proteins? most common is Alu; hemophilia A/B, SCID, porphyria, predisposition to cancer, and Duchenne muscular dystrophy

A

transposons

42
Q

What is an example of a tandem (triplet) repeat expansion disease?

A

Huntington disease

43
Q

Blue color insensitivity (AR) and people with no green sensitivity (X) are examples of what kind of mutation?

A

loss of function

44
Q

Familial hypercholesterolemia is inherited AD. Half of the LDL receptors are mutated. Unfortunately, presence of half good receptors is still not enough for an individual with this condition to function normally. What is the term for this?

A

haploinsufficiency

45
Q

What is a disease where there is an overexpression of the gene?
What is a disease where there is inappropriate expression of the gene?
Both of these diseases are categorized under what mutation?

A

Charcot-Marie-Tooth
hereditary persistence of fetal Hemoglobin
gain of function

46
Q

What disease results in a novel protein product, a form of gain of function mutation?

A

chronic myelogenous leukemia, protein is BCR-ABL

9q22q chr., called Philadelphia chr.

47
Q

What is an example of a disease that is a dominant negative?

A

osteogenesis imperfecta

48
Q

Rh(+) and Rh(-) are examples of what?

A

polymorphisms

49
Q

What disease is an example of dosage sensitivity? How are the different forms inherited?

A

Charcot-Marie-Tooth
1A: AD, dup of PMP22 on chr.17
1B: AD, del in PMP22 (aka as HNPP, irreg. thickening of myelin sheath; episodic, recurrent demyelinating neuropathy)
3: AR, point mutations in PMP22 (aka DSS, very severe, infancy)

50
Q

Some genes like β-globin are small, while others are large like Factor VIII. HGPRT falls in between these two. Mutations of these genes lead to what three diseases?

A

hemoglobinpathies
hemophilia A
Lesch-Nyhan Syndrome

51
Q

What two diseases are examples of allelic heterogeneity?

A

Alpers syndrome (mitochondrial depletion syndrome)

Charcot-Marie-Tooth

52
Q

What condition is an example of locus heterogeneity?

A

hearing loss

53
Q

What disease is an example of clinical heterogeneity? What is the phenotype that varies depending on the mutation?

A

cystic fibrosis; FEV1

54
Q

What is the disease?
AR or AD, displays locus, allelic, and clinical heterogeneity and dosage sensitivity, demyelination, loss of PNS motor and sensory neurons that are connected to muscles and sensory receptors, weakening of muscles of arms, legs, and decrease in responses to touch, pain, temp., and vibration in hands and feet

A

Charcot Marie Tooth

who would’ve guessed…

55
Q

What two diseases are examples of imprinting?

Think of Pier Paolo. Don’t you dare miss this…

A

Angelman Syndrome: unusal facial appearance, short, severe mental retardation, spasticity, seizures, maternal deletion of 15q11-13

Prader-Willi Syndrome: obesity, small hands and feet, short, hypogonadism, mental retardation, paternal deletion of 15q11-q13

56
Q

Reactivating apoptosis is the target of cancer treatment strategies. What are four such examples?

A

BH3 mimetics, XIAP antagonists, FasL mimetics, and Fas activators

EoM: Exam 3 (9 decks)

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