Brainscape's Knowledge GenomeTM

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


See full index

MCM Learning Objectives > Diseases > Flashcards

Diseases Flashcards

1
Q

Trisomy 21

A

nondisjunction in maternal gamete/ DS

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

Trisomy 18

A

edward syndrome- clench fist low set ears cardiac issues 5-10%live past fist year

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

trisomy 13-

A

patau syndrome- heart defects/deaf most die in first month

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

triple x

A

xxx-two barr bodies mental disabilites

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

xxy

A

klinefelter- breast development sterile/long limbs/tall/

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

turner syndrome

A

one x 80% nondisjuction event in male- short lack secondary sex traits- lymphodemia of hands and feet

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

cri du chat

A

patial deltion of chromosme 5- underdeveloped larynx- growth defects cardiac defects

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

deletion 4q syndrome

A

cleft pallet limb abnomalities growth retard

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

angelman syndrome

A

microdeltion of maternal chromosome 15- unable to speak-puppet like gait-unprovoked laughter

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

Prader-willi syndrome

A

microdeltion of paternal 15-obesity-mental retard-undesended testies

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

blooms syndrome

A

1-defective BLM protein results in no recQ helicase /fucntion high risk of cancer red face rash

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

pyruvate kinase deficiency

A

hemolytic anemia- NO HEINZ bodies-increased 2,3BPG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

G6PD deficiency

A

Hemoplytic anemia has heinz bodies-Inhibits ability to produce NADPH which allows for NADPH Oxidase to kill bacteria/allows for conversion fo met-hemoglobin back to hemoglobin/insuffucient glutothione

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Lactate Dehydrogenase Deficiaiency (LDH)

A

Unable to carry out glycolysis under anerobic conditions

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

side note

A

2,3,BPG allows 02 to disassiote from Beta subunit of hemoglobin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Wernicke-Korsakoff Syndrome (Thiamine deficiency)

A
  • commonly seen in alcoholics
    • Ataxia
    • Opthalmoplegia, nystagmus
    • Memory loss and confabulation
    • Cerebral hemorrhage
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

glukokinase deficiency

A

rare form of diabetes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

lactic acidosis

A

generally from impaired pyruvatre metabolism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Huntingtons Disease

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Barth Syndrome

A 
defect in phospholipid metabolism/mutated TAZ gene nonfucntion taffazin protien =low cardiolipin which result in defected ETC complexes-Cardiomyopathy
Neutropenia
Growth Delay 
Exercise intolerance
Reduced life expectancy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Blooms Syndrome

A

defective BLM protein =defective recQ helicase /red facila rash high risk of cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

ALS

A

nuerological and muscular degeneration of motor nuerons in brain stem and spinal cord

misfolding of SOD1- effects axonal transport and mitochondrial respiration
and TDP 43-hyperphosphoralted c terminus fragments messes up mrna processing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Type II diabetes

A

charcterized by chronic insulin resistance loss of Beta cell function and mass/misfolding of IAAP (Amylin=cosecreated with insulin and provides satieyty signal inhibits glucogon secretion)
amyloid aggregates poke holes in mitochondria which can lead to signal it for death caspases/- also bind macrophages in pancreas casuing inflamation-

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Hutchinson-Gilford progeria syndrome (HGPS)

A

is a form of childhood onset progeriawhere the child develops normally until 3-6 months and then rapidly age until death (mean age of death 13.5yo).
defect lamin gene

25
Q

beri-beri

A

thiamine deficiancy

26
Q

PKD

A

-Build up of 2,3 BPG causing release of oxygen/ messes up glycoytic pathway and HMP shunt wich means it cant take 3+hemglobin back to 2+=hymolitic anemia NO heinz bodies-people with PKD are resistant to malaria

27
Q

cofactors of pdh

A 
Tender -TPP
Loving -Lipoic Acids
Care -coenzyme A
For- FADH-riboflavin
Nancy-NADH Niacin
28
Q

PFK 1 inhibitors and activators

A

-Actiovated by AMP inhibited by ATP/citrate

29
Q

hexokinase

A

G6P inhibits allosterically

30
Q

pyruvate kinsae inhibitor

A

ATP and acytly coa activators are amp and Fructose 1,6 bisphosphate

31
Q

Galactosemia both causes

A

galactokinase deficiency=cataracts

Gal-1 P uridyle transferase= fucked cataracts and vomiting liver damage mental retard

32
Q

fruktokinase deficiancy

A

benign

33
Q

aldose B deficiancy

Heriditary fructose intolerance

A

liver damage kidney damage renal proximal tube damage KIDNEY damage

34
Q

FAD deficiancy

A

causes swelling cracked lips

35
Q

Niacin feciciency

A

causes pellegra

36
Q

arsenite inhibits what?

A

lipoamide

37
Q

Flouroacetate inhibits what

A

flouroacetate turns into flourocitrate and blocks aconitase

38
Q

kartagener syndrome

A

Genetically inherited disease where dynein arms are missing or dysfunctional, thus rendering cilia/flagella useless. Affects systems that rely on ciliary transport.

39
Q

Oligohydramnios =

A

too little amniotic fluid

40
Q

Polyhydramnios =

A

excessive amniotic fluid

41
Q

kartagner syndrome-(primary cylialry diconesia)

A

effects dynein arms of sperm infertility in men/cillia problem with airways

42
Q

Surface Exoderm

A

Epidermis, hair, nails,
Subcutaneous (sweat and sebaceous) and lactiferous glands

Sensory epithelium of ear, nose, tongue, lens of eye, membranous labyrinth ear

43
Q

Neuroectoderm

A

Neurulation; formation of neural tube (CNS)

Neural crest; PNS, retina

44
Q

paraxial Mesoderm

A

Somites; bone (vert. column);
ribs; skeletal muscle; dermis;
tendons and ligaments; cartilage

45
Q

Intermediate Mesoderm

A

Urinary and reproductive systems

46
Q

Lateral Plate mesoderm

A

Connective tissues; muscle; body wall; some viscera

47
Q

Endoderm

A

Lining of the GI tract

Inner epithelium of the respiratory tract, bladder, urethra

48
Q

barbituates, retinone poison

A

inhibits e flow from com 1 to coQ (complex1)

49
Q

Cyanide, azide and CO

A

binds fe3+ inhibiting com IV

50
Q

Myxothiazol

A

inhibits electron transfer from UQH2 and Complex III.

51
Q

Oligomycin (antibiotic) and N,N-dicyclohexylcarbodiimide (DCCD)

A

is a classical inhibitor of the FoF1-ATP synthase (FoF1), are ATP synthase inhibitors

52
Q

I. Von Gierke

A 
gene defect for enzyme
G-6-Pase in liver not muscle
-severe hypoglycemia
-lactic acidosis due to lactic acid formation
-hepatomegaly due to rise in G6P
-G6P  (glycogen) is osmotic retains water
-hyperlipidemia is secondary
-HSL-breaks TGs into 3FAs
-accumulation of FAs
53
Q

II pompe

A

cardiomegaly (enlarged heart),
death before age 2
DE:Lysomal Alpha 1 4 glucosidae

54
Q

III CORI

A

Glycogen with short branches, α1,6
branches not cleaved off,
missing glycogen phosphorylase/glycogen
DE: debranching enzyme

55
Q

IV Anderson

A

Linear glycogen: Liver failure causes
death, before age 2, immune system
attacks liver, needs liver transplant
DE: branching enzyme

56
Q

V Mcardle

A

McArdle for muscle, muscle problem
glycogen in muscle only
nothing wrong with liver
NO muscle glycogen phophorylase

57
Q

VI Herse

A 
for hepatic, like type I, but milder
     glycogen in liver only
     nothing wrong with muscle
    mild hypogly --- gluconeogenesis ok
DE: hepatic glycogen phosphorylase
58
Q

Medium-chain acyl-CoA dehydrogenase deficiency (MCAD). MCAD

A

If β-oxidation does not work then no
Gluconeogenesis, results hypoglycemia and
the disease called Medium-chain acyl-CoA dehydrogenase deficiency (MCAD). MCAD
prevents the body from converting certain
fats to energy, particularly during fasting.

59
Q

Sirenomelia

A

Inadequate mesoderm produciton incaudal portion of embryo results in meramid limb dies of improper kidney/GI formation

MCM Learning Objectives (5 decks)

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