Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

SFM > Quiz 2 Diseases > Flashcards

Quiz 2 Diseases Flashcards

1
Q

Familial Hypercholesterolemia

A

Mechanism of cholesterol uptake is disrupted

  • HIGH LDL b/c there is a defect in the LDL receptors
  • can lead to atherosclerotic plaques
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Zellweger Spectrum Disorders

A

Peroxisome Biogenesis Disorders

  • defects in the assembly of peroxisome
  • ~12 diff. proteins involved in assembly
  • most serious form –> absence or reduced number of peroxisomes in cells
  • no cure, death by 1 year
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Down Syndrome

A

47XX +21 (Trisomy 21)

  • Most common
  • Strongly associated with increased maternal age
  • Results most commonly from maternal meiotic nondisjunction (in the ovum)
  • Also due to unbalanced translocation
  • Varying degrees of cognitive impairment
  • Structural abnormalities: increased nuchal translucency, cardiac defects, duodenal atresia, ventriculomegaly, absent nasal bone, short limbs
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Turner Syndrome

A

45XO

  • Monosomy X – always female because no Y
  • Short stature, ovarian hypofunction – no puberty – infertile
  • Webbed neck, no cognitive defects
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Klinefelter Syndrome

A

47XXY

  • varying presentation
  • Primary hypogonadism (low T)
  • Small and/or undescended testes
  • Gynecomastia, infertility
  • Tall stature
  • Variability of X numbers can increase symptoms
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Thalassemia

A

underproduction of hemoglobin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Methemoglobinemia

A

cannot bind heme

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Sickle Cell Anemia

A

mutated HbS –> sickle-shaped RBC’s (rigid)

Glu (acidic, polar) –> Val (hydrophobic) = MISSENSE MUTATION

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Postaxial Polydactyly

A

Autosomal Dominant Inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Tyrosinase-Negative Albinism

A

Autosomal Recessive Inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

LHON

A

Leber Hereditary Optic Neuropathy

  • mtDNA mutation (complex I)
  • NADH dehydrogenase mutation
  • acute loss of vision in early adulthood
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

MERRF

A

Myoclonic Epilepsy and Ragged Red Fibers

  • mtDNA mutation (tRNA in Lysine - disrupts synthesis of cytochrome-c oxidase)
  • myoclonus dinted muscle movement (ataxia) + seizures
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

MELAS

A

Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like activity

  • mtDNA mutation (tRNA for Leucine –> complex I and cytochrome-c oxidase)
  • affects nervous system + muscle function
  • severe headaches, seizures, vomiting, hemiparesis
  • MOST COMMON MITOCHONDRIAL DISEASE)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Xeroderma Pigmentosum

A

NER (Nucleotide Excision Repair)

-NER complex that recognizes distortions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Hereditary nonpolyposis colorectal cancer

A

MER = Mismatch Excision Repair

  • Autosomal Dominant Inheritance
  • MER complex (MutL/MutS)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Cockayne Syndrome

A

TCR = Transcription-Coupled Repair

  • works with BER, NER and other repairs
  • Cockayne –> NER - RNA polymerase is permanently stalled @ sites of damage in important genes
  • growth retardation, skeletal abnormalities, sensitivity to sunlight
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

BRCA associated breast cancer

A

Recomination Repair

18
Q

Shiga Toxin

A

Binds to Eukaryotic 60s

-blocks translocation

19
Q

Ricin

A

Binds to Eukaryotic 60s

-blocks translocation

20
Q

Puramycin

A

causes premature chain termination in BOTH Eukaryotes and Prokaryotes

21
Q

Streptomycin

A

Binds to Prokaryotic 30s

-inhibits initiation

22
Q

Tetracycline

A

Binds to Prokaryotic 30s

-inhibits initiation

23
Q

Erythromycin

A

Binds to Prokaryotic 50s

-blocks translocation

24
Q

Clindamycin

A

Binds to Prokaryotic 50s

-blocks translocation

25
Q

Chloramphenicol

A

inhibits Prokaryotic peptide transferases

26
Q

Cycloheximide

A

inhibits Eukaryotic peptide transferases

27
Q

Diptheria Toxin

A

inactivates EF2-GTP

28
Q

Duchenne Muscular Dystrophy

A

FRAMESHIFT MUTATION

  • large in-frame and out-of-frame deletions in dystrophin gene –> little/no expression of the dystrophin protein
  • most sever form of MD
  • muscle wasting (wheelchair bound by 12)
  • a less severe form (truncated form of dystrophin) = Becker Muscular Dystrophy
  • X-LINKED RECESSIVE
29
Q

I-Cell Disease

A

Defective lysosomal transport because lack of M6P

  • proteins not targeted to lysosome
  • high plasma levels of lysosomal enzymes
  • by 6 months: failure to thrive and developmental delays and physical manifestations
  • death by 7 years old
30
Q

Ehlers-Danlos Syndrome

Epidermolysis Bullosa Simplex

A

ED Syndrome - over flexible joints
EB Simplex - blisters on skin
BOTH caused from Lysol hydroxylates defects - bone, skin and joint disorders

31
Q

Prader-Willi Syndrome

A

Deletion of a region of chromosome 15 (paternal)

  • Short stature, hypotonia, small hands/feet
  • Obesity, uncontrolled eating
  • Mild to moderate intellectual disability
32
Q

Angelman Syndrome

A

Deletion of a region of chromosome 15 (maternal)

  • Severe intellectual disability, seizures, ataxia
  • Uncontrollable laughter
33
Q

Edwards Syndrome

A

Trisomy 18 (47, XX +18)

  • Often IUGR, most die in utero, if born, live up to 1 year
  • Microencephaly, prominent occiput, malformed and low-set ears, small mouth and jaw, cleft lip/palate, rocker bottom feet, overlapped fingers
34
Q

Patau Syndrome

A

Trisomy 13 (47, XX +13)

  • Severe developmental abnormalities
  • Most die before birth, prenatal death within 1 week
  • Heart abnormalities, kidney malformations, CNS dysfunction
  • Microcephaly, malformed ears, closely spaced/absent eyes, clenched hands and polydactyl, cleft lip/palate
35
Q

Retinoblastoma

A

Autosomal Dominant Inheritance

-90% Penetrance

36
Q

Neurofibromatosis

A

Variable Expressivity

-growth-like tumors that vary in size, shape, color, etc.

37
Q

Marfan Syndrome

A

Variable Expressivity

  • affects the connective tissue, + other tissues
  • Ectopia lentis, weakened and stretched aorta
  • May lead to aneurysm and aortic dissection
38
Q

Osteogenesis Imperfecta

A

Locus Heterogeneity

  • “Brittle Bone Disease”
  • Mutations in collagen genes (two loci: chromosome 7 and 17)
  • Either mutation exhibits similar phenotypes (varying severity)
39
Q

Osteogenesis Imperfecta

A

Locus Heterogeneity

  • “Brittle Bone Disease”
  • Mutations in collagen genes (two loci: chromosome 7 and 17)
  • Either mutation exhibits similar phenotypes (varying severity)
40
Q

Cystic Fibrosis

A

Recessive inheritance of disease (i.e. aa)

41
Q

Pyloric Stenosis

A

Multifactorial Inheritance

  • muscular hypertrophy b/t stomach and duodenum
  • 5x more common in males than females
  • Males need less risk genes to show disease; females need more risk genes

SFM (2 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions