1
Q
What change to Histones Inc transcription? Dec?
A
Methylation decreases transciption, Acetylation increases transcription
2
Q
Megaloblastic anemia that does not correct with Folate or Vit B12 administration
A
Orotic Aciduria Note: Deficiency in UMP Synthase–> increased orotic acid in urine and megaloblastic anemia (No hyperammonemia–>Ornithine Transcarbamolase Deficiency)
3
Q
Intellectual Disability, Self Mutilation, Gout, dystonia
A
Lesch-Nyhan Syndrome Note: HGPRT deficiency, X-linked recessive
4
Q
Removal of RNA Primer
A
DNA Pol I w/ 5’->3’ exonuclease activity
5
Q
DNA proofreading
A
3’->5’ exonuclease activity Note: DNA Pol III and I;
6
Q
Transition vs Transversion
A
Transition: Purine to Purine
Transversion: Purine to Pyrimidine
7
Q
Xeroderma Pigmentosa
A
Defective Endonuclease repair of pyrimidine dimers Note: Increased risk for SqCC, Basal CC, Melanoma
8
Q
Base Excision Repair Order of Enzymes
A
Glycosylase (removes altered base)
Endonuclease (5’) then Lyase (3’)
DNA Pol then DNA Ligase Note: repairs spontaneous/toxic deamination of bases
9
Q
RNA Polymerase products
A
I: rRNA, II: mRNA, III:tRNA Note: Amantinin (mushroom toxin) inhibits RNA Pol II (mRNA synthesis–>hepatotoxic)
10
Q
Nuclear modifications to mRNA
A
5’ Cap, 3’ Polyadenylation, Splicing Note: inital transcript is hnRNA (heterogenous nuclear RNA)
11
Q
Cellular Structure that stores & Quality Controls mRNA
A
P-Bodies Note: contain exonucleases, decapping enzymes, and microRNAs
12
Q
Antibodies to snRNPs in spliceosomes
A
Anti-Smith Ab – Lupus
13
Q
Binds the AA on tRNA
A
CCA at 3’ end Note: Added as a post-translational modification, ATP used to charge the tRNA
14
Q
tRNA structure
A
75-90 nucleotides, including Dihydrouricil and Pseudouridine Note: Dihydrouracil in D arm necessary for binding the correct aminoacyl-tRNA synthase
15
Q
Mischarged tRNA outcome
A
Wrong AA at the correct codon
16
Q
Energy for translocated derived from
A
GTP
17
Q
Ribosome protein production
A
RER-secreted; free ribosomes-cytosolic/organellar Note: Mucus-secreting Goblet cells, Plasma cells, and Chief cells (stomach-pepsinogen) are rich in RER
18
Q
Trafficing signal for Lysosomes
A
Mannose-6-Phosphate Note: Deficient in I cell disease–lysosomal proteins excreted, coarse facial features, clouded corneas, high plasma lysosomal enzymes, restricted joint movement, can be fatal
19
Q
What does the Peroxisome catabolize
A
Very-long chain FA, Branch-chain FA, AA
20
Q
Dynein Retrograde, Kinesin Anterograde
A
Dynein used by HSV for latency
21
Q
Bronchiectasis/Recurrent Pulmonary infections, infertility, and Situs Inversus
A
Kartagener’s Disease Note: dynein arm defect in cilia
22
Q
Level of what AA best reflects Collagen synthasis
A
Glycine (1/3 of collagen is glycine) Note: Gly-X-Y
23
Q
Vitamin C deficiency effects collagen production where
A
RER Note: decreases hydroxylation of proline and lysine
24
Q
Osteogenesis imperfecta where?
A
RER Note: Problems w/ formation of triple helix in RER (3 alpha chains)
25
Problems with Cross-linking in Ehlers Danlos, where?
outside the fibroblasts
26
Copper Deficiency effect on Collagen
Menkes Disease Note: Copper is necessary cofactor for Lysyl oxidase--> Crosslinks collagen (extracellular)
27
Most common form of Osteogenesis Imperfecta
AutoDom, decreased production of otherwise normal collagen Note: Multiple fx w/ minimal trauma, blue Sclera (due to translucency of collagen over choroidal veins);
Hearing loss (abnormal ossicles), and dental imperfections
28
Ehlers Danlos
Faulty Collagen synethsis (6 types) Note: Can involve joint hypermobility, skin hyperextensability (Type 5 collagen)
Berry and Aortic Aneurysms (Type 3 collagen--blood vessels)
29
Blots
Southern: DNA; Northern: RNA; West: Protein Note: Southwestern: DNA-binding proteins
30
Pleotropy
One gene contributes to many phenotypic effects
31
Heteroplasmy
Presence of both normal and mutated mtDNA Note: Results in variable expression of mitochondrially-inherited disease between family members; Disease extent corrolates to the proportion of mutated DNA a person has
32
Pt has a recessive disease, only 1 parent is a carrier
Uniparental Disomy Note: Two copies of a chromosome from one parent and zero from the other; 25% of Prader Willi Syndrome-->
33
Difficulty releasing grib/doorknob, muscle wasting, frontal balding, cataracts, testicular atrophy
Myotonic Muscular Dystrophy Note: CTG trinucleotide repeats in DMPK gene; Distal Weakness in hands/feet; Type 1 fibers more affected
34
Macroorchidism, Large Jaw, large/everted ears, mitral valve prolapse, developmental delay
Fragile X Syndrome Note: X linked trinucleotide repeats affecting the METHYLATION of FMR1 gene (fragility only describes in vitro not in vivo);
35
Duchenne Muscular Dystrophy mutation
X-linked Frameshift mutation
36
Becker Muscular Dystrophy mutation
X-linked Point mutation
37
Rocker bottom feet, lowset ears, micrognathia
Edwards Note: Trisomy 18
38
Rocker bottom feet, cleft lip/palate, holoprosencephaly, polydactyly
Patau Note: Trisomy 13
39
Microcephaly, High pitched crying, epicanthal folds, severe intellectual disbility, VSD
Cri du chat Note: Chr 5 short arm deletion
40
Vitamin used to treat measles
Vitamin A Note: Deficiency causes night blindness and immune suppression
41
4 Enzymes that utilize Thiamine (B1)
Pyruvate Dehydrogenase, Transketolase, a-Ketoglutarate Dehydrogenase, Branched-chain Ketoacid Dehydrogenase Note: Deficiency in alcoholics Worsened if you give glucose w/o Thiamine (used for glucose metabolism)
Diagnosis of Deficiency: Increased Transketolase activity in RBC following Thiamine supplement
42
2 Things that cause Niacin deficiency (non-diet)
Hartnup disease (dec tryptophan/Neutral AA reabsorption), Carcinoid Syndrome Note: Pellegra-Dermatitis, Diarrhea, Dementia/Ataxia
43
3 Symptoms of Niacin Excess/Dyslipidemia use
Flushing (prostaglandin), Hyperglycemia, Hyperuricemia
44
Yellowing of the skin w/o scleral icterus
Vitamin A(Beta carotene) excess
45
Vitamin necessary for neurotransmitter synthesis
B6 Pyridoxal Phosphate Note: Serotonin, Dopamine, NE, Epinephrine, GABA; (DA to NE requires Vit C)
46
Rescue supplementation for Folate deficiency
Thymidine Note: Allows for continuation of DNA synthesis (bypasses thymidine synthase)--> stops RBC precursor apoptosis
47
Breastmilk is low in what 2 vitamins
D and K Note: Also low in iron
48
Vitamin that enhances the effects of warfarin
Vitamin E
49
Deficiency of what vitamin can be lethal in 1st week
Vitamin K Note: Neonatal Hemorrhage (high suspicion if birth not at a hospital-- no Vitamin K shot)--same reason why Warfarin is not used in 3rd trimester despite what they said in class
50
Alcohol Dehydrogenase inhibitor? Acetaldehyde Dehydrogenase inhibitor
Alcohol: Fomepizole
Acetaldehydr: Disulfiram Note: Fomepizole used to prevent toxicity w/ ethylene glycol or methanol poisoning
51
Vitamin that has deficiency mimicking Friedrich Ataxia/B12 deficiency (posterior column and spinocerebellar demyelination)
Vitamin E Note: Also causes hemolytic anemia with ancanthocytosis
52
Disulfiram-like reactions
Metronidazole, Chlorpromazine (typical antipsychotic), 1st gen sulfonylureas, Griseofulvin, some cephalosporins
53
Glucose metabolism enzyme associated with maturity onset or gestational diabetes
Glucokinase Note: Glucokinase is key for glucose-sensing in the pancreatic Beta cell
54
Cofactors for Pyruvate dehydrogenase
Vit B1, B2, B3, B5, and Lipoic acid Note: Same Cofactors as alpha-Ketoglutarate Dehydrogenase
55
What cofactor of Pyruvate dehydrogenase does arsenic inhibit?
Lipoic Acid Note: Causes vomiting, rice-water stools, and garlic-breath
56
TX for Pyruvate Dehydrogenase deficiency
Lysine and Leucine or high fat diet Note: only purely ketogenic amino acids
57
Cyanide and Carbon Monoxide inhibit what ETC complex
Complex 4 (Cytochrome C Oxidase) Note: Decrease protein gradient and block ATP synthesis
58
High dose aspirin, Dinitrophenol, and thermogenin have what effect on the ETC
Uncoupling agents Note: Allow H+ to pass through and consumes O2 w/o ATP synthesis--> heat generation
59
What Respiratory burst enzyme gives sputum its color
Myeloperoxidase Note: blue-green heme containing pigment
60
Glucose -6-Phosphate Dehydrogenase Deficiency has what 2 manifestations in RBC
Heinz Bodies: Oxidized/precipitated Hemoglobin
Bite cells: removal of HBs by splenic macrophages
61
Asymptomatic accumulation of fructose in blood/urine
Essential Fructosuria (Defect in Fructokinase)
62
Hypoglycemia, jaundice, cirrhosis, and vomiting in an infant after consuming juice/fruit
Fructose Intolerance Note: Deficiency of Aldolase B (Auto rec), accumulation of Fructose-1-p causes decreased phosphate, which inhibits glycogenolysis and gluconeogenesis
63
Urine dipsticks detect what sugar
Glucose Note: Negative in fructosuria/fructose intolerance--> test for reducing sugars (included fructose)
64
Supplementation w/ which sugar allows bipassing of the rate limiting step of glycolysis
Fructose Note: Fructose-1-P is converted by Aldolase B to DHAP and Glyceraldehyde (triose kinase to G3P)
65
Infantiile Cataracts and failure to track objects with galactose in blood/urine
Galactokinase Deficiency Note: accumulation of Galactitol due action of Aldolase reductase on galactose
66
Intellectual disability, jaundice, failure to thrive, hepatomegaly, and cataracts in an infant
Classic Galactosemia Note: Defect in Galactose-1-P Uridyltransferase-->accumulation of galactitol and depletion of phosphate
67
Classic Galactosemia is associated with what infection in neonate
E. coli Sepsis Note: Deficiency of Galactose-1-P Uridyltransferase
68
Cataracts, Retinopathy, and Peripheral Neuropathy are due to accumulation of sorbitol, what enzyme is lacking in these tissues?
Sorbitol Dehydrogenase
(Sorbitol to Fructose) Note: Glucose is converted to osmotically active sorbitol via Aldolase Reductase
69
Stool/Breath in Lactose tolerance test if intolerant
Decreased stool pH and increased breath Hydrogen Note: Osmotic diarrhea, bloating, flatulance
70
What two AA are enriched in histones
Arginine and Lysine Note: Basic AA that bind the negatively charged DNA--> Histidine is also basic
71
Which AA donates an NH2 group to form urea
Aspartate
72
What AA is actually split to form urea
Arginine Note: via Arginase (produces urea and reforms ornithine)
73
Excess NH3 in hepatic encephalopathy depletes what TCA intermediate, inhibiting the TCA cycle
Alpha Ketoglutarate Note: converted to Glutamate; Lactulose is used to remove excess NH4 (diarrheal that acidifies the GI)
74
Deficiency of N-acetylglutamate inhibits what Urea Cycle enzyme
Carbamoyl Phostphate Synthase I Note: Leads to hyperammonemia and Increased Ornithine
75
Hyperammonemia with excess orotic acid
Ornithine Transcarbamylase Deficiency Note: X-linked recessive, often evident in first few days of life: Increased Orotic Acid, Decreased BUN, Hyperamonemia symptoms (Kernicterus, somnolence, vomiting, cerebral edema
76
Excess orotic acid with Megaloblastic Anemia
Orotic Aciduria Note: deficiency of UMP Synthase, Megaloblastic anemia NOT treated with folate or vit B12 supplement
77
Phenylalanie Hydroxylase and Tyrosine Hydroxylase require what cofactor
Tetrahydrobiopterin
78
Intellectual disability, mousy.musty body odor, seizures, and eczema corrected with Tetrahydrobiopterin supplementation
Malignant PKU Note: Deficiency in Dihydrobiopterin Reductase;
79
What hormone may be elevated in malignant PKU
Prolactin Note: Tetrahydrobiopterin is also cofactor for Tyrosine hydroxylase--> decreased activity causes decreased DOPA, which causes decreased Dopamine, which removes inhibiton of prolactin secretion
80
Glutamate produces what neurotransmiter
GABA Note: requires pyridoxal phosphate (B6)
81
Arginine produces what 3 things
Nitric Oxide, Urea, Creatinine
82
Enzyme that converts NE to Epinephrine
PNMT Note: Requires cortisol and SAM
83
Tryptophan generates what 3 productes
Niacin, serotonin, Melatonin
84
NE/Epi breakdown product? Dopamine?
NE/Epi: Vanillylmandelic Acid;
DA: Homovanillic acid Note: NE is first broken down to Normetanephrine, Epi to metanephrine by COMT
85
Effects of maternal PKU on infant w/o proper diet
Microcephaly, Mental and growth retardation, heart defects
86
Dark connective tissue, brown pigmented sclera, urine turns black w/ prolonged air exposure, Debilitating arthralgia
Alkaptonuria Note: Deficiency of Homogenisate oxidase--> accumulation of homogentisic acid and failure to breakdown tyrosine to Fumarate
87
Osteoporosis, Tall stature (marfanoid), kyphosis, lens subluxation (down and in), thrombosis/atherosclerosis w/ stroke and MI risk; Elevated Homocystine in urine
Homocystinuria Note: Due to Deficiency of either: MethionineCystathionine-->Cysteine
-Cystathionine Synthase -->supplement with inc cysteine, B6/pyridoxine, and dec methionine
-Homocysteine Methyltransferase (Methionine Synthase) Deficiency -- inc methionine in diet
88
Renal Cystine stones (hexagonal)
Cystinuria Note: Hereditary defect in Renal Proximal tubule and intestinal reaborption of Cysteine, Ornithine, Lysine, and Arginine
89
Diagnosis of Cystinuria
Urinary Cyanide-Nitroprusside test turns purple
90
Severe retardation, disability, and sweet smelling urine
Maple Syrup Urine Disease Note: Deficiency in Alpha-Ketoacid Dehydrogenase (uses thiamine)-->blocks degradation of Branched amino acids (Valine, Leucine, Isoleucine); Isoleucine causes burnt sugar urine smell
91
What causes increased glycogen breakdown in muscle during exercise
Ca2+ directly activates Glycogen Phosphorylase Kinase
92
Glycogen storage disease causing cardiomyopathy
Pompe Disease (Type II) Note: Deficiency in Lysosomal a-1,4-glucosidase (acid maltase)
93
Glycogen storage disease causing painful muscle cramps, myoglobinuria, and arrhthmias
McArdle Disease (Type V) Note: Deficiency in Myophosphorylase (skeletal muscle glycogen phosphorylase)
94
Glycogen storage disease with hypoglycemia and accumulation of short outer Dextrin-like structures
Cori Disease (Type III) Note: Deficiency in Debranching enzyme (a-1,6-glucosidase)
95
Lysosomal Storage disease with Aseptic necrosis of the femur, pancytopenia, hepatosplenomegaly, and bone crisises
Gaucher's Disease Note: Most common LSD, Gaucher cells (lipid-laden macrophages that look like crumpled paper)
Glucocerbrosidase deficiency-->accumulation of Glucocerebroside
96
What is present in Niemann Pick and absent in Tay Sachs
hepatosplenomegaly Note: both have neurodegeneration and cherry red spots on macula
97
Globoid cells
Krabbe Disease Note: Large macrophages filled with Galactocerebroside (Galactocerebrosidase deficiency)
98
LSD w/ ataxia, dementia, and cresyl violet stain +
Metachromatic Leukodystrophy Note: Arylsulfatase deficiency and accumulation of cerebroside sulfate
99
Hunters Syndrome vs Hurler's Sydrome
Hunters is X linked, no corneal clouding, aggressive Note: both accumulate Heparan sulfate and dermatan sulfate, have gargoylism and developmental delay
100
Hypoketonic hypoglycemia (low glucose w/o inc ketones)
Carnitine Deficiency/Acyl-CoA Dehydrogenase deficiency Note: Carnitine is needed to transport Long Chain FA into the mitochondria
101
Urine test for ketones does not detect which one
B-Hydroxybutyrate
102
Protein and carboydrate generate how many kcal/g
4kcal/g Note: Fat generates 9kcal/g, alchohol 7kcal/g
103
How long until hepatic glycogen is gone
About 12-18 hrs, unless exercising (then less)
104
Glucose on starvation day 1-3 comes from
Liver Gluconeogenesis via peripheral lactate/alanine and adipose propionyl-CoA and glycerol
105
How long until brain can use ketone bodies
after day 3
106
Only apolipoprotein in LDL
ApoB-100 Note: binds LDL receptor
107
Hyperchylomicronemia (TG>2000 in kids) 1st presents as
Pancreatitis and abdominal pain Note: Deficiency in Lipoprotein lipase or ApoCII; No increased risk for Atherosclerosis
108
Pathognomonic lesion for Familial Hypercholesterolemia
Tendenous Xanthomas (Achilles) Note: AutoDom defect in LDL receptor; very accelerated atherosclerosis
109
Pyruvate Carboxylase is allosterically activated by:
Acetyl-CoA Note: converts pyruvate to oxaloacetate for gluconeogenesis
110
Insulin activates what intracellular enzyme
Protein Phosphatase 1 Note: Increases glycogen synthase and decreases glucose release
111
Elastin's elasticity/recoil is due to
Interchain Crosslinks between lysine and Desmosine
112
DNA laddering by endonucleases in apoptosis yield what size DNA fragments
180bp fragments from internucleosome DNA
113
Neuron Swelling, displacement of nucleus to periphery, and dispersion of Nissl substance following Axon damage
Wallerian Degeneration
114
Fibrous Tissue formation in response to neoplasm
Desmoplasia Note: Ex Linitis Plastica in diffuse-type gastric adenocarcinoma
115
S-100 stain says what about cells
Neural Crest Note: Melanomas, schwannomas, Histocytosis
116
Hemoglobin has a sigmoid curve and therefore cannot have what type of kinetics
Michaelis Menton Note: To have Michaelis-Menton Kinetics, an enzyme must have a hyperbolic curve
117
Tetrahydrobiopterin is needed for what 3 enzymes in Neurotransmitter synthesis
Phenylalanine Hydroxylase, Tyrosine Hydroxylase, and Tryptophan Hydroxylase Note: Malignant PKU will decrease activity of all 3 due to deficient Dihydrobiopterin reductase
118
Gives rise to the smooth part (outflow tract) of the Left and right ventricles
Bulbis cordis
119
Why does HbF has a left shifted curve vs HbA
Less avid binding of 2,3 BPG
120
How is CFTR gated?
ATP
121
Homocysteinuria often responds to what supplementation
Vitamin B6/Pyridonine
122
Bilateral absence of the Vas Deferens
Cystic Fibrosis Note: Azoospermia
123
First breast milk given to an infant after birth
Colostrum Note: Contains IgA
124
Major regulator of iron absorption/excretion
Liver (hepatocytes) Note: Liver produces Hepcidin, which downregulates and inhibits ferroportin in intestinal epithelial cells
125
Alcohol effects what receptors
Downregulates GABA and upregulates NMDA Note: Predisposes to seizure w/ withdrawal due to decreased GABA (inhibitory) and increased NMDA (excitatory)
126
What senses low blood O2 to raise hematocrit in COPD/OSA
Kidney Note: Secretes EPO
127
Demyelination decreases the length constant for an axon
Signal strength decreases over a shorter distance
128
Hypoglycemia and low Ketone bodies, what enzyme deficient
Acyl-CoA Dehydrogenase Note: Deficiency of Beta oxidation, preventing ketone body formation w/ low glucose
129
Most important determinant of peak bone mass
Genetics
130
Marker of osteoblast activity
Bone ALP
131
Marker of osteoclast activity
Urine Deoxypyridinoline excretion Note: collagen cross linker
132
Hypothalamus produces what hormones
Supraoptic-ADH, Paraventricular-oxytocin
133
Hypothalamic nuclei causing hunger? Satiety?
Lateral-hunger, Ventromedial-Satiety Note: Leptin inhibits the lateral area and stimulates the ventromedial area
134
Melatonin/circadian rhythym is controlled by
Suprachiasmatic nucleus Note: Helps to overcome jet-lag
135
Deep thalamic nuclei (lateral to Medial)
Dentate, Emboliform/Globose, Fastigial
136
Oocyte Stages
In Ovary: Prophase Meiosis I
After Ovulation: Metaphase Meiosis 2 Note: Primary Ooocyte, 2N 4C
Secondary Oocyte 1N 2C
137
Endpoint of Conducting Zone lung structures
Cartilage and Goblet cells: end of Bronchi
Pseudostratified ciliated cells:beginning of terminal bronchioles
Airway Smooth Muscle: End of terminal bronchioles
138
Biotin
Carboxylase reactions Note: Pyruvate carboxylase and conversion of Propionyl-CoA to methylmalonyl-CoA
139
Receptors that cause Extrinsic Apoptosis
FAS and TNF
140
P and E selectin on endothelial cells bind to
Sialyl-Lewis X on leukocytes
141
Test for Chronic Granulomatous Disease
Nitroblue Tetrazolium test Note: Tests for NADPH activity
142
Two mechanisms by which CD8+ T cells kill cells
Perforin/Granzyme & expression of FasL Note: IL-2 from TH1 cells is secondary signal
143
What are the two anti-fibrinolysis substances
alpha2-Antiplasmin: Inhibits plasmin
Aminocaproic acid: prevents plasminogen activation
144
What differentiates disorders of fibrinolysis from DIC
Disorders of fibrinolysis have normal platelet counts and No increased D-dimers Note: Fibrinogen split products are elevated (not D-dimers b/c there are no clots so no cross-linked fibrin;
PT,PTT, and bleeding time elevated in both
145
Iatrogenic cause of Disorder of Fibrinolysis
Radical prostatectomy Note: Leads to release of urokinase (activates plasmin); TX w/ aminocaproic acid
146
What is secreted by endothelial cells that causes thrombin to activate protein C
Thrombomodulin Note: Endothelial cells also block subendothelial collagen, release Prostacyclin, Heparin-like molecules, and tPA
147
Inherited point mutation in Prothrombin that increases gene expression and thrombosis
Prothrombin 20210A (point mutation)
148
First step of heme synthesis is conversion of glycine & Succinyl-CoA to ALA by ALAS, what vitamin is key
Vitamin B6/pyridoxine Note: B6 deficiency (nutrition or Isoniazid) or lead poisoning cause acquired sideroblastic anemia
149
Gene mutations in Thalassemia
Alpha: Gene Deletion
Beta: Point mutation in promoter or Splice Sites
150
Screen that causes cells w/ any HbS to sickle
metabisulfite Note: Positive in both SCD and SCTrait
151
Left shift is marked by increased immature neutrophils w/ what receptor decreased
CD16 (Fc receptor)
152
Bordetella pertussis is associated w/ increase in what cell type in blood
Lymphocytes Note: Lymphocytosis promoting factor; Viruses also increase lymphocytes
153
Stain specific to Acute Lymphoblastic Leukemia
Tdt Note: DNA polymerase
154
HFR to F- conjugation goes from what to what
OriT to tra Note: Genes closer to OriT get transferred more
155
A disporportionate number of people are lost from one study group as compared to the other
Selection bias (attrition bias/Loss to follow up)
156
Most common cause of death age 1-44
Unintentional injury Note: 65 heart disease
157
To calculate carrier rate of an AR gene
Sqrt(prevalence/4) Note: 1/4 kid gets disease, square root gives carrier rate
158
Cardiac path associated w/ fragile X
Mitral valve prolapse Note: Also long face, large/everted ears and huge balls
159
ACL on MRI
Superolateral to inferomedial (SLIM)
160
Fractional Excretion of Water equation
Urine Flow Rate/GFR (x100%)
161
25% of Prader-Willi cases are caused by this, in which two maternally imprinted copies are present
Uniparental Disomy
162
Lens Subluxation in Genetic Disorder
MARFAN: Upward and Temporally
Homocysteinuria: Inferior and nasally
163
What diuretic can be used to prevent uric acid kidney stones
Acetazolamide Note: Alkalyzes the urine, urate crystals only at acidic pH
164
Diagnosis of Thiamine deficiency
Increased RBC transketolase activity after B1 admin
165
Reaction in TCA that uses Riboflavin (B2)
Succinate Dehydrogenase
166
Two treatments that bind to and excrete NH3
Benzoate and phenylbutryate Note: used in hyperammonemia and urea cycle deficiencies to allow NH3 excretion
167
Excess NH3 depletes what in the cell to stop the TCA
Alpha-Ketoglutarate
168
Increased ornithine and hyperammonemia w/ normal functioning urea cycle enzymes
hereditary N-acetylglutamate deficiency Note: TX w/ carbamoyl glutamate, necessary corfactor for Carbamoyl Phosphate Synthase 1
169
Increased homocysteine in urine w/o megaloblastic anemia
Homocystinuria Note: Intellectual disability, osteoporosis, lens subluxation, tall, kyphosis, thrombosis/atherosclerosis
170
Shuttles for FA synthesis and breakdown
Synthesis: Citrate; Breakdown: Carnitine
171
Unique lipoprotein to chylomicrons
ApoB-48
172
Paracrine release of Interferons alpha and Beta activate:
RNAaseL and Protein Kinase Note: Shut down both viral and host cell protein synthesis to prevent bacteria spread.w/ dsRNA present
173
Helper T cells express what cell surface proteins
TCR, CD4, CD3, CD40L, CD28 Note: CD40L activates B cells and is not on CD8 Tcells
174
Cell markers on NK cells
CD16, CD56 Note: CD16 bings Fc region of IgG
175
Endotoxin receptor on macrophages
CD14
176
Effect of inotropes on CO and Right atrial P
Increase CO and decrease RAP Note: CO curve shifted up, venous return curve does not move
177
Effect of increased blood volume/decreased venous compliance on CO and RAP
Increased CO and increased RAP Note: CO curve does not move, VR curve shifted to the right
178
Effect of Increased TPR on CO and RAP
Decreased CO and no change in RAP Note: CO curve shifted down (due to inc afterload), VR curve Rotated counterclockwise (due to inc TPR)
179
Fasting is required for measure of what lipoprotein
LDL Note: LDL=CH-HDL-VLDL; VLDL is calculated as TG/5, so if not, fasting, TG will be high making LDL artificially low; If TG>400, LDL measured directly
180
Receptor types for Parietal Cell (stomach) mediators
Ach & Gastrin-- Gq
Histamine--Gs
Prostaglandins and Somatostatin -- Gi Note: Ca/IP3 and cAMP increase the H+/K+ ATPase on the luminal membrane
181
What transmitter that increases gastric acid release does not have a clinically useful inhibitor
Gastrin Note: Ach by Atropine; Histamine by Ranitidine/Cimetidine/Famotidine
182
Nuclei in the Striatem? Lentiform Nuclei?
Striatem- Putamen and Caudate
Lentiform- Putamen and Globus pallidus
183
Largest contributor of functional dead space in the lung
Apex
184
Lung volume for minimum pulmonary vascular resistance
Functional Residual Capacity
185
AV node location
In interatrial septum near the right AV orifice
186
Most bactial efflux pumps used for Abx resistance use what as the energy source to pump out the drug
H+ out of the cell (secondary active transport) Note: Adding H+ prevents bacterial efflux of drugs
187
Stain for cartilage
Safranin O
188
Axillary sweating is mediated by what
Cholinergic Postganglionic sympathetic fibers from the thoracic sympathetic trunk
189
What hormone increases in a Nephrogenic DI pt that was water deprived
Vasopressin Note: Vasopressin is high but the kidney cannot respond
190
Histology of endometrium in secretory/Luteal phase
#NAME?
191
LH induces testosterone production where in female
Theca Interna Note: NOT in Theca Externa (structural support only)
192
Hypothalamus hormone that Stimulates Prolactin release
TRH Note: Primary/Secondary hypothyroidism can cause galactorrhea
193
Two mechanisms of cellular Atrophy
Polyubiquitination and Autophagy
194
Clotting factor involved in Coagulation, Fibrinolysis, Kinin/Kallikrein, and Complement
Hageman Factor (Factor XII)
195
First Step of Primary Hemostasis
Transiet Vasoconstriction of damaged vessel
196
If platelet count not given, does petechiae indicate quantitative or qualitative platelet disorder
Quantitative
197
Immune thrombocyopenic pupura is mediated by what cells
Plasma cells in the spleen Note: Increased mature megakaryocytes on BM biopsy
198
Failure of PTT to rise w/ heparin tx
Antithrombin III deficiency Note: Genetic or Nephrotic Syndrome
199
Alpha Thalassemia tetramers
3 deletions: HbH (Beta tetramer); 4- HbBarts (gamma tetramer)
200
Types of error that reduce precision? Accuracy?
Precison-Random error; Accuracy-Systematic error
201
What aspect of the DNA code allows for the 3' wobble
Degeneracy
202
Isoniazid can cause deficiency of what two vitamins
B6/Pyridoxine and B3/Niacin Note: B6 is necessary for Niacin synthesis
203
What GI ligament is pinched to control bleeding of the portal vein
Hepatoduodenal Note: Contains the portal triad--Portal vein, hepatic artery, common bile duct
204
Which gastric arteries have poor anastomoses if blocked
Short Gastric Note: supply the fundus of stomach off splenic artery
205
The femoral sheath does not contain what structure
femoral nerve
206
Cremaster muscle is derived from what structure
Internal oblique
207
What two structures form the kidney
Metanephric Mesenchyme
Ureteric Bud (from mesonephric duct) Note: -->Glomerulus to distal tubule
-->Collecting duct to Ureter
208
Most common location of obstruction causing hydronephrosis
Uretopelvic junction Note: Last to canalize
209
Modified smooth muscle cells in the afferent arteriole
Juxtaglomerular apparatus Note: Release renin in response to B1 stimulus, low renal perfusion, and low NaCl to macula densa
210
What receptor subtype is effected in Parkinsons
D2 Note: GiPCR
211
What does DA in the Tuberoinfundibular tract lead to
Decreased prolactin
212
What does DA in the CTZ lead to
Emesis
213
What effect of Parkinson's does anticholinergic TX not fix
Bradykinesia
214
How do Nitrates cause vasodilation
Form Nitrous Oxide which activates guanalyl cylase, which increases cGMP Note: Increased cGMP causes dephosphorylation of myosin light chain kinase
215
What does Thrombin time test
Fibrinogen deficiency/abnormality or Factor 13
216
Effects of estrogen on lipids
Increase: TG and HDL; Decrease: LDL
217
Acidic AA, Basic AA
Acidic: Aspartate and Glutamate
Basic: Arginine, Lysine, and Histidine Note: Arginine and Lysine are enriched in histones (bind negatively charged DNA)
218
One of the two NH3 in urea comes from what AA
Aspartate
219
Three nutrition deficiencies that result in poor wound healing
Vit C, Copper, Zinc Note: Vit C- Proline/Lysine Hydroxylase; Copper- Lysyl Oxidase; Zinc- Collagenase (type 3 to 1)
220
When can enzyme studies be done to confirm G6PD deficiency
Weeks after a hemolytic episode Note: Otherwise only cells w/ the enzyme will be left (need cells beyond G6PD's half life)
221
Eyelid muscle innervation
Superior Tarsal--sympathetic (lost in Horner's)
Levator Palpebrae--parasympathetic
222
Almost all skin below the umbilicus drains to the Superficial inguinal lymph nodes, what areas drain to the Popliteal nodes?
Posterior calf and Dorsolateral foot
223
Hormone that influences LDL receptor expression
Thyroid Hormone Note: Hypothyroidism-->Hypercholesterolemia due to decreased LDL receptors
Hyperthyroidism-->Hypocholesterolemia due to increased LDL receptors
224
Connection between the second Branchial pouch and second branchial cleft
Congenital Pharyngo-cutaneous fistula Note: fistula between the tonsillar area and lateral neck
225
1st arch neural crest fails to migrate
Treacher-Collins syndrome Note: mandibular hypoplasia and facial abnormalities
Boards
flashcards
Decks in class (11)
# Cards
