Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

MCM Learning Objectives > Diseases > Flashcards

Diseases Flashcards

(59 cards)

Start Studying
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)

Study These Flashcards
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
beri-beri
thiamine deficiancy
26
PKD
-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
cofactors of pdh
``` Tender -TPP Loving -Lipoic Acids Care -coenzyme A For- FADH-riboflavin Nancy-NADH Niacin ```
28
PFK 1 inhibitors and activators
-Actiovated by AMP inhibited by ATP/citrate
29
hexokinase
G6P inhibits allosterically
30
pyruvate kinsae inhibitor
ATP and acytly coa activators are amp and Fructose 1,6 bisphosphate
31
Galactosemia both causes
galactokinase deficiency=cataracts | Gal-1 P uridyle transferase= fucked cataracts and vomiting liver damage mental retard
32
fruktokinase deficiancy
benign
33
aldose B deficiancy | Heriditary fructose intolerance
liver damage kidney damage renal proximal tube damage KIDNEY damage
34
FAD deficiancy
causes swelling cracked lips
35
Niacin feciciency
causes pellegra
36
arsenite inhibits what?
lipoamide
37
Flouroacetate inhibits what
flouroacetate turns into flourocitrate and blocks aconitase
38
kartagener syndrome
Genetically inherited disease where dynein arms are missing or dysfunctional, thus rendering cilia/flagella useless. Affects systems that rely on ciliary transport.
39
Oligohydramnios =
too little amniotic fluid
40
Polyhydramnios =
excessive amniotic fluid
41
kartagner syndrome-(primary cylialry diconesia)
effects dynein arms of sperm infertility in men/cillia problem with airways
42
Surface Exoderm
Epidermis, hair, nails, Subcutaneous (sweat and sebaceous) and lactiferous glands Sensory epithelium of ear, nose, tongue, lens of eye, membranous labyrinth ear
43
Neuroectoderm
Neurulation; formation of neural tube (CNS) | Neural crest; PNS, retina
44
paraxial Mesoderm
Somites; bone (vert. column); ribs; skeletal muscle; dermis; tendons and ligaments; cartilage
45
Intermediate Mesoderm
Urinary and reproductive systems
46
Lateral Plate mesoderm
Connective tissues; muscle; body wall; some viscera
47
Endoderm
Lining of the GI tract Inner epithelium of the respiratory tract, bladder, urethra
48
barbituates, retinone poison
inhibits e flow from com 1 to coQ (complex1)
49
Cyanide, azide and CO
binds fe3+ inhibiting com IV
50
Myxothiazol
inhibits electron transfer from UQH2 and Complex III.
51
Oligomycin (antibiotic) and N,N-dicyclohexylcarbodiimide (DCCD)
is a classical inhibitor of the FoF1-ATP synthase (FoF1), are ATP synthase inhibitors
52
I. Von Gierke
``` 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
II pompe
cardiomegaly (enlarged heart), death before age 2 DE:Lysomal Alpha 1 4 glucosidae
54
III CORI
Glycogen with short branches, α1,6 branches not cleaved off, missing glycogen phosphorylase/glycogen DE: debranching enzyme
55
IV Anderson
Linear glycogen: Liver failure causes death, before age 2, immune system attacks liver, needs liver transplant DE: branching enzyme
56
V Mcardle
McArdle for muscle, muscle problem glycogen in muscle only nothing wrong with liver NO muscle glycogen phophorylase
57
VI Herse
``` for hepatic, like type I, but milder glycogen in liver only nothing wrong with muscle mild hypogly --- gluconeogenesis ok DE: hepatic glycogen phosphorylase ```
58
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD). MCAD
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
Sirenomelia
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.
© 2025 Bold Learning Solutions. Terms and Conditions