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309 Cards in this Set

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What are the fat soluble viatmins?
DAKE
Where are fat soluble vitamins abs?
ileum
Why are fat soluble vitamins toxic?
stored in fat
What can cause fat-soluble vitamin deficiency?
CF, sprue, mineral oil intake
Which water soluble vitamin is stored in the liver?
B12
What does a B complex deficiency cause?
dermatitis, glossitis, D
Where do you find vit A?
green leafy vegetables
What does a vita A deficiency cause?
night blindness, dry skin
What does vit A do?
ocnstituent of visual pigment
What does an excess of vit A cause?
arthralgias, HA, fatigue, alopecia, skin changes, sore throat
What is the function of Vit B1?
cofactor of oxidative decarboxylation and transkelolase
What are the syndromes caused by B1 deficiencies?
beriberi, Wernicki-Korsakoff
What is dry beriberi?
polyneuritis, muscle wasting
What is wet beriberi?
Hi-output HF (cardiomyopathy), edema
What is Vit B2?
riboflavin
What is the function of Vit B2?
cofactor in oxidation and reduction
What is derived from B2?
FAD, FMN
What does B2 deficiency cause?
angular stomatitis, cheilosis, corneal vascularization
What does Vit B3 do?
constituent of NAD, NADP
What does a B3 deficiency cause?
pellagra
What is pellagra?
3 Ds- D, dermatitis, dementia
What are the causes of Vit B3 deficiency?
Hartnup Dz, malignant carcinoid sundrom, INH
What is derived from B3/niacin?
NAD
What is Vit B3?
niacin
What is vit B5?
pantothenate
What is the function of B5?
constituent of CoA, component of fatty acid synthase
What does a B5 deficiency cause?
dermatitis, alopecia, enteritis, adrenal insufficiency
What is Vit B6?
pyridoxine
What does a vit B6 deficiency cause?
convulsions, hyperirritability, peripheral neuropathy
What is the function of B6?
converted to a cofactor used in transamination, decarboylation, and heme synthesis
What can cause Vit B12 deficiency?
malabsorption, lack of IF, absence of terminal ileum
What do you use to test Vit B12?
Schilling test
What does vit B12 deficiency cause?
macrocytic, megaloblastic anemia, neurologic symptoms, glossitis
What is the function of B12?
cofactor for hoocysteine methylation, and methlmalonyl-CoA handling
What do we get folic acid from?
green leaves
What is folates function?
coenzyme for 1-carbon transfer, methylation reactions, synthesis of nitrogenous bases is RNA/DNA
What does folate deficiency casue?
macrocytic, megaloblastic anemia(no neuro sx)
Why give folate during pregnancy?
dec neural tube defects
What is folic acid analogous with in bacteria?
PABA
What does biotin do?
cofactor for carboxylation of pyruvate, Acetyl-coA, proprionyl-CoA
Whate does biotin deficiency cause?
dermitis, enteritis
What causes biotin deficiency?
raw eggs, antibiotics
What is the function of Vit C?
hydroxylation of proline, lysine in collagen synthesis, Fe Abs by keeping Fe reduced, cofactor for DA
What does a Vit C deficiency cause?
scurvy
What does Vit D excess cause?
hypercalcemia, loss of appetitis, stupor
What can cause excess Vita D?
sacrodosis when epithiloid cells convert VitD to active
What does Vit E do?
antioxidant and protects erythrocytes from hemolysis
What does a vit E deficiency cause?
inc RBC fagility, neurodysfunction
What does a vit K deficiency cause?
neonatal hemorrhage
What does Vit K do?
catalyzes the carboxylation of glutamic acid for II, VII, IX, X, Ptn C,S
What does zinc difficiency cause?
delayed wound healing, hypogonadism, dec adult hair
What the cause of hangover sx?
acetaldehyde
How does antibuse work?
inhib acetaldehyde dehydrogenase causing acetaldehyde to inc
What is the limiting factor for alcohol metabolism?
NAD+
What is kwashiorkor?
a child with a swollen belly who has low protein intake, has red pluckable hair, edema, liver changes, malabs, anemia
What is marasmus?
a wise,old face, energy malnutrition, tissue, muscle wasting, loss of subQ fat
What is the function of H1 histone?
ties nucleosomes together 30nm fiber
Which form of chromatin is condensed and transcriptionally less active?
heterochromatin
Which from of chromatin is less condensed and transcriptionally more active?
euchromatin
Which ammino acids are needed for purine synthesis?
GAG, glycine, aspartate, glutamine
How many bonds are between G-C?
3
How many bonds between A-T?
2
Which nucleotide has a methyl group?
thymine
Which nucleotide has a ketone?
guanine
Whatis transition of a base?
purine for purine or pyrimidine for pyrimidine
What is transversion of a base?
purine to pyrimidine or pyrimidine to purine
What is mutated in xeroderma pigmentosa?
nucleotide excision repair
Whatis mutated in hereditary nonpolyposis colon CA?
mismatch repair
What does RNAP I do?
make rRNA
What does RNAP II do?
make mRNA
What does RNAP III do?
make tRNA
Howdo death cap mushrooms kill?
have alpha-amanitin which inhibits RNAP II
What is the start codon?
AUG
What are the stop codons?
UGA,UAA,UAG --U Go Away, U Are Away, U Are Gone
What is the operator?
Site where negative regulators bind and repress gene transcription
When can RNA be transported out of the nucleus?
After 5' capping, poly A, intron splicing
What is tRNA wobble?
accurate base pairing required only in the first 2 nucleotide positions of the mRNA codon
What enzyme is responsible for checking aa before and after attachment to tRNA?
Aminoacyl-tRNA sunthetase
Which organs undergo coag necrosis?
liver, heart, kidney
Which organ undergoes liquifactive necrosis?
brain
Which causes caseous necrosis?
TB
What causes fat necrosis?
pancreas
What are the reversible signs of cell injury?
swelling, chromatin clumping, ribosomal detachment, no glycogen, dec ATP
What are the irreversible signs of cell injury?
lysosomal rupture, plasma membrane damage, Ca Influx--oxidative P, pyknosis, karyolysis, mito permeability
What are the cardinal signs of infection?
dolor, color, tumor, rubor, loss of function
What does ICAM-1 bind to?
LFA-1
Where is E-selectin located?
on endothelium
What are the four steps for leukocyte extravasation?
rolling, tight binding, diapedesis, migration
What helps mediate rolling?
E-selectionandsilyl-lewis onthe leukocyte
What mediates tight binding?
ICAM-1 and LFA-1
What helps leukocytes migrate through interstium?
cytokines
What causes free radical injury?
radiation, drug, leukocyte oxidative burst, redoxreaction, NO, transition metals
What does free radical inury look like?
lipid peroxidation, ptn modification, DNA breakage
How are free radical degraded?
catalase, SOD, glutathione peroxidase
What is hyperplasia?
inc number of cells
What is metaplasia?
1 adult type of cells is replaced by another
What is metaplasia caused by?
enviornmenta exposure or irritation
What is an example of metaplasia?
squamous metaplasia in trachea and bronchi of smokers
What is dysplasia?
abnormal growth with loss of cellular orientation, shape, and size in comparison to nl tissue maturation, commonly preneoplastic
What is anaplasia?
abnl cells lacking diferentiation, like primitive cells of same tissue, undifferentiated malignant neoplasms
What is a neoplasia?
a clonal proliferation of cells that is uncontrolled and excessive
What is used to stage a neoplasm?
size, LN, metatases
What does grade of a tumor tell you?
degree of cellular differentiation
What does stage tell you?
localization/spread
What do carcinomas orginate from?
epithelium
What do sarcomas stem from?
mesenchyme
What neoplasm is associated with Downs?
ALL, AML
What neoplasm is associated with xeroderma pigmentosum and albinism?
melanoma, basal, squamous cell CA
What neoplasm is associated with chronic gastritis, pernicious anemia, postsurgical gastric remnants?
gastric adenocarcinoma
What neoplasm is associated with tuberous sclerosis?
astrocytoma, cardiac rhabdomyoma
What neoplasm is associated with actinic keratosis?
squamous cell CA
What neoplasm is associated iwth Barrett's esophagus?
esophageal adenoCA
What is plummer-vinson syndrome?
atrophic glossitis, esophageal webs, anemia all due to Fe deficiency
What neoplasm is associated with Plummer-Vinson syndrome?
squamous cell CA of the esophagus
What neoplasm is associated with liver cirrhosis?
HCC
What neoplasm is associated iwth ulcerative colitis?
colonic adenoCA
What neoplasm is paget's dz of bone associated with?
osteosarcoma and fibrosarcoma
What neoplasm is associated with immunodeficiency?
malignant lymphomas
What neoplasm is associated with AIDS?
aggressive malignant lymphomas, kaposi sarcoma
What neoplasm is associated with autoimmune dz?
benign and malignant thymonas
What neoplasm is associated with acanthosis nigricans?
visceral malignancy
What neoplasm is associated with a dysplastic nevus?
malignant melanoma
What are the oncogenes?
BERRAM, bcl, Erb-B2, Ras, Ret, abl, myc, c,N,L
What is bcl associated with?
follicular lympoma?
What is erb-B2 associated with?
breast, ovarian, gastric CA
What is Ras associated with?
colon CA
What is abl associated with?
cml
What is c-myc associated with?
burkitts
What is bcl-2 assoicated with?
Follicular
What is erb-B2 associated with?
ovarian, breast, gastric
What is ras associated with?
colon
What is L-myc associated with?
lung tumor
What is N-myc associated with?
neuroblastoma
What is ret associated with?
MEN II,III
How many allels do you need with an oncogene?
just one, gain of function
PSA
prostate CA
CEA
carcinoembryonic Ag, colorectal, pancreatic, breast gastric
alpha-fetoprotein
HCC, HSGCT of testis
b-HCG
hydatiform mole, choriocarcinoma, gestational trophoblastic tumors
CA-125
Ovarian, malignant epithelium
S-100
melanoma, neural tumors, astrocytomas
Alkaline Phosphatase
pagets, bone mets, biliary dz
Bombesin
neuroblastoma, lung, gastric CA
TRAP
Hairy cell leukemia
CA-19-9
pancreatic adenoCA
What is HTLV-1 associated with?
Adult t-cell leukemia
What is HBV and HVC associated with?
HCC
What is EBV associated with?
burkitt's, nasopharyngeal
What is HPV associated with?
cervical CA
What is HHV-8 associated with?
Kaposi's sarcoma
What type of CA does aflatoxin cause?
HCC
What does vinyl chloride cause?
angiosarcoma of the liver
What does CCl4 cause?
liver, centrolobular necrosis, fatty changes
Where do nitrosamines affect?
esophagus, stomach
Where does cigarette smoke affect?
larynx, lungs
What does asbestos cause?
mesothelioma, bronchogenic carcinoma
What does Arsenic cause?
squamous cell CA of the skin
What does naphthalene dyes cause?
bladder CA
What do alkylating agents cause?
blood leukemia
What tumors mets to Brain? Lots of Bad Stuff Kills Glia
Lung, Breast, Skin, Kidney, GI
What percentage of brain tumors are mets?
50%
What Mets to the liver? CA sometimes penetrates benign liver
colon, stomach, pancreas, breast, lung
What mets to bone? PT Barnum Loves Kids
prostate, thyroid, testes, breast,lung, kidney
Which bony mets are lytic?
lung
Which bony mets are blastic?
prostate
What is the 2nd leading cause of death in the US? 1st?
Cancer 2nd to Heart DZ
What is the most fatal CA?
lung for both men and women
How do carcinomas met?
lymphatic spread
How do saarcomas met?
blood vessels
What is trousseau phenomenon?
migratory thrombophlebitis associated with CA of the pancreas
What type of cells are BM, gut, skin, and hair?
labile, never in G0
What type of cells are hepatocytes and lymphocytes?
stable cells, can enter G1
What kind of cells are neurons, skeletal and cardiac muscle, and RBCs?
permenant, never enter G1, regenerate from SC
What is the function of RER?
site of synthesis of secretory proteins and N-linked oligosaccharide additions to many ptns
What are nissl bodies?
RER in neurons that make enzymes and peptide NT
What two cell types have abundant RER?
goblet cells and plasma cells
What is the function of the SER?
steroid synthesis, detox
What two cells have abundant SER?
liver hepatocytes, steriod producing cells of the adrenal cortex
What disease is related to failure of the addition of mannose-6-PO4 to lysosome proteins?
I-disease
What are the characteristics of I-disease?
coarse facial features, clouding of corneas, restricted joint movement, high plasma levels of lysosomal enzymes
What happens when you can't add mannose-6-PO4?
enzymes are secreted out of the cell instead of into lysosomes
What is the pathway of COP1
retrograde, golgi to ER
What is the pathway of COPII?
anterograde, RER to cis-Golgi
What is the pathway of cathrin?
trans-golgi to lysosomes or plasma membrane to endosomes
What is the diameter of microtubles?
24nm
What drugs act on microtubles?
Mebendazole, Taxol, Griseofulvin, Vincristine/Vinblastine, Colchicine
How many GTPs are boudn to a microtubule dimer subunit?
2 GTPs
What ATPase is associated with retrograde cilia?
dynein
What ATPase is associated iwth anterograde cilia?
kinesin
What is Kartagener's syndrome?
defect in the dynein arm of cilia rendering them immobile
What are the effects of Kartagener'?
infertility, bronchiectasis, recurrent sinusitis, associated with situs inversus
What does Ouabain do?
inhibits Na/K pumps by binding to K site
What do cardiac glycosides do?
Inhibit Na pumps
What does type I collagen form?
bone, skin, tendon
What does type II collagen form?
cartilage
What does type III collagen form?
reticulin
What does type IV collagen form?
BM
When is Vit C needed in collagen synthesis?
hydroxylation of specific proline and lysine
What are the steps of collagen synthesis?
protein synthesis, hydroxylation, glycosalation, excytosis
What are the effects of Ehlers-Danlos syndrome?
hyperextensible skin, tendency to bleed, hypermobile joints
What is Ehlers-Danlos assoc. with?
berrie aneurysms
What is osteogenesis imperfecta?
AD dz where lack type I collagen
What are the effects of OI?
brittle bones, dental imperfections, blue sclera, hearing loss
Which type of OI is fatal in utero or neonatal period?
Type II
What is fibrillin?
Scaffolding for elastin
What is mutated in Marfan's?
fibrillin gene
Where is hexokinase?
everywhere
Where is glucokinase?
in the liver
What does Arsenic do?
Inhibits lipoic acid needed for pyruvated dehydrogenase
What defect causes fructose intolerance?
aldolase B
What are the symptoms of a person with Aldolase B deficiency?
hypoglycemia, cirrhosis, jaundice, vomiting
What is the treatment for Fructose intolerance?
avoid food with fructose and sucrose
Which enzyme is deficient for an asymptomatic pt who has fructose in blood and urine?
fructokinase
What is galactosemia?
AR d/o, abs of galactose-1-PO4 uridyltransferase
What are the symptoms of galactosemia?
MR, HSM, cataracts
What is toxic in galactosemia?
galactitol
What is derived from phenylalanine?
tyrosine, dopa, DA, NE, Epi
What are the derivatives of Tryptophan?
niacin, serotonin, melatonin
What is the derivative of histidine?
histamine
What is the derivative of Glycine?
porphyrin--heme
What are the derivatives of arginine?
Creatine, urea, NO
What is the derivative of glutamate?
GABA
Autosomal dominant disease often involve what?
structural genes
Autosomal recessive diseases often involve What?
enzymes
What kind of mode of inheritance is observed with hypophosphatemic rickets?
x-linked dominant
What disease has lisch nodules?
neurofibromatosis I
What is the mutated gene for CF and where is it located?
CFTR, on chromo 7
What is the second most common cause of MR?
fragile X, second to Down's
Where does atresia happen in a pt with Down's?
duodenal
What chromo abnormality is associated with Edwarsd's?
trisomy 18
What is the delection in Cri-du-chat?
deletion of short arm of chromo 5
What is the number one cause of congenital malformations in the US?
fetal alcohol syndrome
What are the components of Southern Blot?
DNA sample:DNA probe
What are the components of Northern Blot?
RNA sample:DNA probe
What are teh components of Western Blot?
ptn sample:labeled Ab
Define incomplete penetrance?
not all individuals with a mutant genotype show the mutant phenotype
What is pleiotropy?
1 gene has >1 effect on an individual's phenotype
What is imprinting?
the differences in phenotype depend on whether the mutation is maternal or paternal
What is anticipation?
severity of disease worsens or age of onset of disease is earlier in succeeding generations
What is loss of heterozygosity?
if a pt inherits or develops a mutation in a tumor suppressor gene, the complemetary allele must be deleted or muated before cancer develops
What is mosaicism?
when cells in the body have different genetic makeup
What is locus heterogencity?
mutations at different loci can produce the same phenotype
What does underproduction of heme cause?
microcytic anemia
What does accumulation of intermediates of heme synthesis cause?
porphyrias
Which enzymes are affected by lead poisoning?
ferrochelatase and ALA dehydrase
Which enzyme is affected in acute intermittent porphyria?
uroporphyrinogen I synthase
Which enzyme is affected with porphyria cutanea tarda?
uroporhyrinogen decarboxylast
What are the five side effects of porphyria?
painful abdomen, pink urine, polyneuropathy, psychological disturbances, precipitated by drugs
How is bilirubin transported in the blood?
bound to albumin
What is the GFAP?
a marker for astrocytes
What does a microglial cells do?
phagocytosis
What do the microglia arise from?
mesoderm
What happens to microglial when they are HIV infected?
multinucleated giant cells
Which cells are destroyed in MS?
oligodendroglia
Where do schwannoma occur?
internal acoustic meatus
Whci peripheral nerve layer is permeable?
perineurium
What do Meissner's corpusles do?
light touch
Where are Meissner's corpusles?
in the derms
Where are Pacinian corpuscles located?
deeper tissue, ligaments, jt capsule, serous membranes, mesenteries
What do Pacinian corpuscles do?
pressure, coarse touch, vibration, tension
Where are Merkel's corpuscles?
in fingertips, hair follicles, hard palate
What do Merkel's corpuscles sense?
crude light touch
What is inside the bony labyrinth?
perilymph
What is inside the membranous labyrinth?
endolymph
What makes endolymph?
stia vascularis
What is in the membranous labyrinth?
semicircular canal, utrical, cochlear duct, saccule
What kind of acceleration do th utrical and saccule of the vestibule do?
linear
What kind of acceleration does the ampulla of the semicircular canals detect?
angular
Where is high-frequency picked up?
base of cochlear
Where is low frequency picked up?
at the apex
What type of frequency do old people lose?
high frequency
What are the functions of the hypothalamus?
thirst and H2O balance, adenohypophysis, neurohypophysis, hunger, autonomics, temps, sexuality
Where is the thirst center?
supraoptic
Where is the heat conserving center?
posterior hypothalamus
Where is the cooling center?
anterior hypothalamus
Where is the sexual center?
septal
Where is the automonic parasympathetic center?
anterior
Where is the automonic sympathetic center?
posterior
Where are the circadian rhythms center?
supraoptic nuclei
Where is the hungry center?
lateral and ventromedial
What would destruction of the lateral hypothalamus do?
anorexia
What would destruction of the ventromedial hypothalamus do?
hyperphagia and obesity
Where is ADH made?
supraopitc nuclei
Where is oxytocin made?
paraventricular
What is the function of the lateral geniculate nucleus of the thalamus?
vision/Light
What is the function of the medial geniculate nucleus of the thalamus?
music/auditory
What does the VPL, ventral posterior nucleus, lateral part do?
body sensation, DC and STT
What does the VPM, ventral posterior nucleus, medial part do?
face sensation, CNV
What does the Ventral anterior and lateral part do?
motor
What are th five functions of limbic system?
fight, flight, feeling, feeding, sex
Which DA R is in the direct NS path?
DA1
Which DA R is in the indirect NS path?
DA2
Where do the direct pathway fibers terminate?
Globus pallidus internus
Where do the indirect pathway fiber terminate?
Globus pallidus externus
Where is the lesion if the pt lacks social judgement?
frontal lobe
What are the executive functions?
planning, inhibition, concentration, orientation, language, abstraction, judgment, mortor regulation, mood
What does the anterior cerebral artery supply?
leg-foot motor and sensory
What does the middle cerebral artery supply?
trunk-face-arm motor and sensory, broca and wernicke's
What does the anterior communicating artery?
most common, visual field defect
What does the posterior communicating artery lesion look like?
CN III palsy
What happens in with lesions in the lateral striate?
arteries of stoke
What are the findings anterior circle stroke?
general sensory and motor dysfunction, aphasia
What are the finding of a posterior circle stroke?
cranial nerve deficits, vertigo, visual defects, coma, cerebellare deficits
Where are the venous sinuses?
in the dura mater
How many cervical spinal nerves are there?
8
How many thoracic spinal nerves are there?
12
How many lumbar spinal nerves are there?
5
How many sacral spinal nerves are there?
5
How many coccygeal spinal nervers are there?
1