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FINAL Biomedical Sciences > Diseases > Flashcards

Diseases Flashcards

1
Q

Hemochromatosis

A

Sex linked AD disorder only present in males

Males have no way of getting rid of the iron when females have mensces and pregnancy

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2
Q

Leigh Snydrome

A

Mt disease (doesn’t need to be). Die at 5 years

No RRF’s

Mt encephalopathy

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3
Q

LHON

A

Maternally inherited (mt disease)

Usually men

Loss of vision

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4
Q

KSS and CPEO

A

RRF’s

Spongy myelinopathy

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5
Q

MELAS and MERRF

A

RRF’s present

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6
Q

Hereditary spherocytosis

A

Mutation in spectrin, unable to bind actin, cell becomes spherical and hypotonic

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7
Q

Aneuploidy

A

Extra or missing chromosomes

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8
Q

Turner syndrome karyotype

A

45 X

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9
Q

Kleinfelter karyotype

A

47 XXY

Male

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10
Q

Down syndrome

A

47 XY +21

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11
Q

Robertsonian translocation

A

Between 14-21 to make isochrome

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12
Q

Nondisjunction meiosis 1

A

Trisomy

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13
Q

Nondisjunction meiosis 2

A

Disomic gamete

Sperm

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14
Q

Alcohol and painkillers

A

Stimulates toxic conversion of acetaminophen

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15
Q

Cystic Fibrosis

A

Recessive disease caused by loss of Cl channel function

CTFR gene

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16
Q

Neurofibromatosis Type 1 (NF1)

A

Mutation in NF1, a GAP gene for Ras

Hyperactive Ras

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17
Q

Noonan Syndrome

A

Mutation that leads to a gain of function

Hyperactive Ras

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18
Q

Listeria

A

Bacterium hijacks Arp 2/3 using WASP/Scar homology

Uses this to comet itself around the cell

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19
Q

Karategener syndrome (PCD)

A

Dynein mutation that results in loss of cilia motility

  • respiratory tract infections, male infertility
  • cilia lack outer arms
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20
Q

Griscelli Type 1

A

Myosin Va, Rab27A transport protein mutations

  • melanosomes not transported
  • light skin, hair
  • neuron defects
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21
Q

Zellweger Syndrome

A

Defect in recognizing signal of all peroxisomal proteins at receptor
-results in empty peroxisomes

22
Q

Adapting deficiency

A

Cannot bind coat proteins necessary for cholesterol transport into the cell

-results in hypercholesterolemia

23
Q

Pemphigus foliacous

A

Between epidermal layers

-spot desmosomes

24
Q

Bullous Pemphigoid

A

Between epidermis and CT

  • due to mast cell
  • hemidesmosomes
25
Q

Marian Syndrome

A

Fibrillin 1 mutation-growth does not have elasticity
Long appendages
Aortic aneurysm

26
Q

Syndactyly

A

When toes are fused

-problem in apoptosis

27
Q

Follicular lymphoma

A

BCL2 over expression due to translocation between 14 and 18

Buts BCL2 next to highly expressed Ig

28
Q

Sacrococcygeal teratoma

A

Primitive streak does not fully regress, and pluripotent Epiblast cells proliferate

-you can find multiple tissue types in there

29
Q

Trisomy 13

A

Midline malformation, cleft palate, small eyes

HPE in brain, so small head

30
Q

Trisomy 18

A

Rocker bottom feet, clenched hands, low-set ears

Big occipital lobe

31
Q

Nodal over expression

A

Two headed conjoined twins

32
Q

Not enough nodal expression

A

Failure of posterior half to develop properly

Too much RA
Too little FGF

33
Q

Synpolydactly

A

HOXD13 mutation that results in one little finger

34
Q

Holoprosencephaly (HPE)

A
  • too much Ptch or too little Smo/hh
  • many cases is SHH halpoinsufficiency
  • results in high Gli-R activity

-cyclopia, single vesicle, single incisor

35
Q

Gli3-R mutations

A

Post axial polydactyly - extra finger

36
Q

Medulloblastoma

A

Most common CNS cancer in kids
Too much inhibition of Gli3-R
Ptch mutations that render it insufficient
treat with vismodegib

37
Q

Colorectal/gastric cancer

A

Associate with mutation in APC

Does not breakdown B-catenin

38
Q

Piebaldism

A

Spotting

Failure of pigment cell migration

39
Q

Hirschsprung’s disease

A

Failure of enteric nervous migration

Mega colon

40
Q

Digeorge syndrome

A

Pharynx issues due to migration failure
Mutation in TBX1 or Crkl—TGF-B and FGF issues

  • small jaws, low set ears
  • lots of upper thorax issues
41
Q

Fetal alcohol syndrome

A

Forced apoptosis of neural and cranial NC cells

-flat nose bridge, smooth upper lip

42
Q

Mismatch repair defect

A

MLH- lynch syndrome

43
Q

NER defect

A

ERCC1- Xerderma Pigmentosum

44
Q

DSBR mutation

A

BRCA1/2- breast cancer

45
Q

Sporadic Retinoblastoma

A

Happens with no genetic predisposition
Two-hit hypothesis
One eye at first

46
Q

Familial Retinoblastoma

A

Already start out with one bad copy of Rb

Both eyes, occurs at a younger age

47
Q

P53 mutation and cancer

A

Most common mutation leading to cancer

Stabilized by p14ARF; destabilized by MDM2

48
Q

Example of Viral Oncogene

A

V-Src mutation from proto oncogene to oncogene

49
Q

Burkett Lymphoma

A

C-MYC (TF) duplication or translocation that causes duplication
Seen in B lymphocytes
Translocation places it behind an antibody gene enhancer

50
Q

Chronic Myelogenous Leukemia (CML)

A

Translocation (Philly Chromosome) that causes overproduction of a mutated c-abl, a tyrosine kinase –becomes BCR-ABL

Will show splits on PCR

Activation with no upstream control

51
Q

Multiple Hit Hypothesis and cancer

A

Attack the oncogene that the tumor needs the most to survive
Will cause pathway to crash

FINAL Biomedical Sciences (15 decks)

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