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CBSE memorization

Terms in this set (123)

What AA are histones rich in?
Lysine, arginine (basic)
Anti-histone antibodies
Drug-induced lupus
Anti-dsDNA
Classic lupus
purines are made from what amino acids?
glutamate + aspartate + glycine
What converts ribonucleotides to deoxyribonucleotides?
ribonucleotide reductase
Disorder with defective HGPRT
Lesch-nyhan
Disorder with defective adenosine deaminase
SCID - buildup A hinders ribonucleotide reductase
Ribivirin and mycophenolate inhibits
IMP DH
CPS I and CPS II are found where
CPS I - mito
CPS II - cyto
What inhibits ribonucleotide reductase
Hydroxyurea
What Ab is the same as MTX
TMP - trimethoprim
hexokinase/glucokinase do what
Glucose —> G6P
Hexokinase active when
Most cells for glycolysis
Glucokinase active when
Liver and pancreas to store and make glycogen
What inhibits glucokinase
Low glucose and high F6P (F6P makes glucokinase regulatory protein inactivate glucokinase)
- happens during gluconeogenesis
PFK-1 does what
F6P —> F16BP (Commits to glycolysis)
What amino acid does skeletal muscle make
Alanine (alanine cycle is used to convert back to glucose to use)
What hormones inc glucose
Ep, cortisol, thyroid hormone
What is propionyl coa
From odd chain FA
Makes OAA for gluconeogenesis
1,4 and 1,6 which is branching enzyme for glycogen
1,4 is unbranched
1,6 is branched
Where is glycogen most abundant
Muscle and liver
What disease causes severe hypoglycemia between meals and lactic acidosis
Von gierke - can't make glucose in liver
What disease causes cardiomegaly, no hypoglycemia, and build up of glycogen in lysosomes
Pompe
What disease has a problem in glycogen debranching, and mild hypoglycemia
Coris
What disease presents with exercise cramps, myoglobinuria, CK release, dark urine after exercise
Mcardles - can't break down glycogen in muscles
Biotin is a cofactor for
Pyruvate decarboxylase, acetyl-coa decarboxylase, propionyl-coa decarboxylase
NADPH is used for
Reducing - protects form oxidative damage
Thiamine is cofactor for
(Vit B1)
transketolase in R5P to F6P
alpha-ketogluterate to succinyl coa
pyruvate to acetyl coa

Prob in alcoholics
What setting is chronic granulomatous disease bad
Catalase + bacteria
(Loss of NADPH oxidase - can't form H2O2 to kill bacteria)
What setting is glucose 6 phosphate dehydrogenase deficiency bad
Oxidizing drugs
(Can't form NADPH to reduce)
Thiamine deficiency affects what tissues the most
Aerobic (heart, brain)
Arsenic poisonous how
Binds lipoic acid and inhibits pyruvate DH (vomit, diarrhea, coma)
Hormone sensitive lipase is used in what?
FA breakdown in adipocytes
Tryptophan forms what
Niacin, serotonin, melatonin
Don't confuse marfans with what
Homocysteinuria (can't convert to cysteine)
- lens and long limbs
- also osteoporosis, retardation, early atherosclerosis
What protein is incorporated into proteins and is high during inflammation
Citrulline
AST and ALT are what
Transfer amino groups so they can be excreted in liver
What 3 things cause niacin deficiency
INH, hartnup, carcinoid syndrome
U tx hyperlipidemia disorder what is a common side effect
Facial flushing from niacin (PG release)
B6 is important cofactor in what 5 things
AST, ALT
NT synthesis
Homocysteine —> cysteine
Tryptophan —> niacin
ALA synthesis for heme (sideroblastic anemia)
What 2 causes for sideroblastic anemia
B6 deficiency
Lead poisoning
ALA
3 drugs that interfere with folate
Phenytoin, TMP, MTX
5 causes for ADEK malabsorption
CF
Celiac sprue
Crohns
Primary biliary cirrhosis
Primary sclerosing cholangitis
Vit C excess causes
Iron overload and kidney stones
What part of kidney responsible for vit D activation
PCT
Child w/ pain in hands and feet, lack of sweat, skin findings.

Deficient enzyme
Accumulation of
Fabry's
A-galactosidase A
Ceramics trihexoside
Jew, splenomegaly, anemia bruising, joint pain/fractures

Deficient enzyme
Accumulation of
Gauchers
Glucocerebrosidase
Glucocerebroside

*gaucher cell - macrophage filled w/ lipid (crinkled paper)
Previously healthy child, loses motor skilled, enlarged liver/ spleen, cherry red spot

Deficient enzyme
Accumulation of
Neimann-picks

Acid sphingomyelinase
Sphingomyelin
Development delay, floppy limbs, vision loss, fever no infection, globe shaped cell with more than 1 nucleus

Deficient enzyme
Accumulation of
Krabbes
Galactocerebrosidase
Galactocerebroside
Progressive neurodegeneration, cherry red spot

Deficient enzyme
Accumulation of
Tay-sachs
Hexosaminidase A
GM2 ganglioside
2 yr old with gait problems and falls, speech probs, dementia

Deficient enzyme
Accumulation of
Metachromatic leukodystrophy

Arylsulfatase A
Sulfatides
Coarse face, short, retard, hepatosplenomegaly, corneal clouding, ear pulm infections, OSA
Hurlers
1-2 yo, behavioral probs, learning difficulty, aggressive, can't sit still
Hunter's
Precocious puberty, fractures, irregular skin pigmentation
Mccune-Albright: GNAS gene mosaicism
What congenital heart diseases in DS
ASD, VSD, mitral valve regurg
What GI defects in DS
Duodenal atresia/stenosis, hirschsprung
3 causes of downs
Nondisjunction
Unbalanced translocation
Mosaicism
Disease risks for DS
Alzheimer's
ALL
Maternal blood test of DS
Low PAPP-A
High B-hCG
2nd trimester DS screen
Low AFP, estriol
High B-hCG, inhibin A
Trisomy 18 cardio defects
VSD, PDA
Trisomy 18 GI defects
Meckels
Malrotation
Omphalocele
Microphthalmia, cleft, polydactyly, holoprosencephaly
Trisomy 13
Dec PAPP-A, B-hCG
Trisomy 18 first trimester
Dec PAPP-a and B-hCG
Trisomy 18 2nd trimester
Dec all
AFP, estriol, B-hCG, inhibin
Long narrow face, macroorchidism, intellectual disability
What gene?
Fragile X syndrome
FMR1 gene
CGG repeat
Loss of balance, HOCM, kyphoscoliosis, foot abnormalities
What gene?
Friedreichs
Frataxin gene
GAA repeat
Degeneration of basal ganglia is caused by what repeat
Huntingtons
Presents in adulthood: Unable to relax muscles, gonad, eye, heart, lung, intellectual problems
What gene?
CTG repeat
DMPK (worse type)
CNBP
Myonecrosis of proximal lower limbs and heart problems caused by what mutation
Frameshift mutation of DMD gene —> truncated dystrophin protein

- becker/ less evere: non-framshift mutation of dystrophin protein
Elfin facies
What cardio abnormality?
What chromosome problem
Supravalvular aortic stenosis
Chrom 7
(Williams)
Immune deficiency, hypoCa, congenital heart defects
22q11 deletion
Intellectual disability, weird cry, microcephalic, cardio probs
What chromosome prob?
Chromosome 5
(Cri-du-chat)
Turners associated probs
Coarcation of aorta
Bicuspid aortic valve
Horseshoe kidney
Streak ovaries
Long limbs feminized male has what associated problem
Cryptorchidism
Stop codons
UAG, UGA, UAA
Xeroderma pigmentosum is due to what error
Nucleotide excision repair
Lynch/ HNPCC is due to what error
Mismatch repair
Fanconi anemia is due to what error
Homologous recombination
Ataxia telangiectasia is due to what error
Nonhomologous end-joining
What protein allows progression through cell cycle
What does it activate?
Cyclin-cdk complex
EF2
BRCA1 and BRCA2
LOF
APC/beta catenin
LOF
Colon, stomach, pancreatic
Familial adenomatous polyposis
TP53
LOF
Li-fraumeni
RB
LOF
Retinoblastoma
Osteosarcoma
WT1
LOF
Wilms
VHL
LOF
Renal cc
VHL syndrome
RAS
GOF
Cholangiocarcinoma, pancreatic adenocarcinoma
MYC
GOF
Burkitt lymphoma
ERBB1 (EGFR)
GOF lung adenocarcinoma
ERBB2 (HER2)
GOF Breast cancer
ABL
GOF
CML
BRAF
GOF
hairy cell leukemia, melanoma
What are the 6 receptors on macrophages
CD14 (LPS)
Fc
C3b
MHCII
B7 (CD28)
CD40
IL
Hot T bone stEAK
1 - Fever
2 - T cell
3 - B cell
4 - IgE
5 - IgA
6 - aKute phase reactants
What are the small neutrophil granules
Alk phos
Collagenase
Lysozyme
Lactoferrin
What are the large neutrophil granules
Acid phosphatase
MPO
What IL do macrophages secrete
IL-1, IL-6, IL-8, IL-12, TNF-a
IL-8 neutrophils
IL-12 th1 development
TNF-a vascular leak and cachexia (reduces FA utilization)
CD34 expressed on
RBC (prevent AI)
CD56 expressed on
NK cell as marker
CD16 is expressed on
NK cell - to bind IgG
CD40 and CD40L is for what
Macrophage and CD4 T cell interaction
B-cell and CD4 T cell interaction (class switching)
T cell has the CD40L
CD25 is expressed on
Treg
Fas ligand and Fas receptor expressed on
Fas ligand - cyt T cell
Fas receptor (aka CD95) expressed on cell
apoptosis
What enzyme is important in apoptosis
Caspases
HLA-A3
Hemochromatosis
HLA-B27
Arthritis and spondylitis

Psoriatic arthritis
Ankylosing spondylitis
IBD-arthritis
Reactive arthritis
HLA-C
Psoriasis
DQ2/DQ8
Celiac disease
Addisons HLA
B8, DR3, DR4
Myasthenia gravis HLA
B8
Graves disease
B8, DR3
MS HLA
DR2
Hay fever HLA
DR2
Goodpasture HLA
DR2
SLE HLA
DR2, DR3
DM1 HLA
DR3, DR4
Hashimoto HLA
DR3, DR5
Rheumatoid arthritis HLA
DR4
C3a, C3b, C5a
C3a - anaphylatoxin
C3b - opsonin for phago
C5a - chemotaxis
C3 deficiency vs C5-C9 deficiency
C3 can't form complement - immune complex with pathogen can't be eaten by macrophage — susceptible to encapsulated
MAC — susceptible to neisseria
C1 inh protein is important in what
The breakdown fo bradykinin —> edema of skin, GI, airway
C reactive protein vs C1 inhibitor protein vs C3 nephrotic factor
C reactive protein - activate classical pathway
C1 inhibitor protein - inhibit bradykinin
C3 nephrotic factor - stabilizes C3 convertase (membranoproliferative glomerulonephritis II)
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