Exam 2 Material Flashcards

Question

Tropicamide

Answer 1

Tertiary Amine Muscarinic Antagonist

Answer 2

amplified oncogenes attached to the chromosome.

Answer 3

This **mannose**-rich precursor is linked only to the nitrogen of an **asparagine** side chain. All proteins receive the same oligosaccharide and only later the sugars are individually modified in the **RER** and **Golgi** dependent on the protein. Complex glycoproteins and high-mannose glycoproteins are formed in the **Golgi**.

Answer 4

* First mutation is inherited, and therefore, present in every cell (1 st hit) * Second mutation can occur in any cell (2 nd hit) * Loss of all tumor suppressor activity in that cell * Cancer/ malignant transformation

Answer 5

defect is in **ATM** gene (11q22-23) (involved in repair of **double strand breaks**) A serine-threonine protein kinase with a number of functions including: **-detecting DNA damage (i.e. it is a sensor)** and **activating cell cycle arrest and DNA repair proteins (e.g. p53)** - **autosomal** **recessive** inheritance - rare disease (incidence estimated to be 1:50,000

Answer 6

a measure of the body’s ability to eliminate the drug

Answer 7

Proline, lysine, hydroxyproline, hydroxylysine

Answer 8

- Pretty common form of spontaneous lesion - loss of amine group from a base - Example: cytosine (which base pairs with G) deaminates to form uracil (Uracil would like to pair with A). This is easy to fix because Uracil does not belong in DNA.

Answer 9

F = (AUC oral / AUC IV) \* 100

Answer 10

* Deletion of ch 4p * Seizures * Skeletal abnormalities and congenital heart defects * Spectrum of intellectual and developmental delay, mild to severe * Facial anomalies - widely spaced eyes, high-arched eyebrows, broad & flat nasal bridge, short philtrum, downturned mouth, small chin

Answer 11

heart, juxtaglomular cells, adipocytes incr. cAMP. incr. Gs pathway incr. HR/force of contraction/AV conduction (Tachybradia), Renin release, incr. lipolysis

Answer 12

Muscarinic Nicotinic

Answer 13

Nucleotide Excision Base Excision- (Same as NER, but much smaller scale) Mismatch Repair

Answer 14

different activities present on the same polypeptide chain This enzyme is also known as UMP synthase

Answer 15

Covering an entire tendon: - Epitendineum Covering around a group of fascicles: - Peritendineum Covering around a group of fibers: - Endotendineum

Answer 16

the study of adverse effects of drugs

Answer 17

* Local anesthetics * Sedative-hypnotics * Antiepileptics

Answer 18

ATP and PRPP

Answer 19

Invaginated folds of pia mater containing tufts of fenestrated capillaries covered by simple cuboidal ependymal cell in ventricles of the brain

Answer 20

Adipose Connective Tissue Cells -large Nucleus -peripheral Lipid droplet -one Function -fat storage

Answer 21

This regulation can occur at many different steps of gene expression, including: – Transcription (most frequently) –mRNA processing – Translation – Regulation of protein half life

Answer 22

bind to and activate muscarinic or nicotinic receptors. Many have effects on both receptors. Most therapeutically useful drugs preferentially activate muscarinic receptors

Answer 23

Competition Quenching Blocking

Answer 24

Drug A is more potent than Drug B. Drug A and Drug B have equal efficacy. Drug C has lower potency and lower efficacy than Drugs A and B.

Answer 25

bind to an operator region and prevent RNA polymerase from initiating transcription

Answer 26

Aspartate, Glutamine and CO2

Answer 27

Smooth muscle, skeletal muscle, Pancreatic a cells, Liver, Adipocytes incr. cAMP SM relaxation/vasodilation/bronchodilation, incr. glycogenolysis and K+ uptake, incr. glucagon secretion, incr. glycogenolysis and gluconeogenesis, incr. lipolysis

Answer 28

intracellular intracellular extracellular

Answer 29

Unexplained developmental delay or autism spectrum disorder Congenital anomalies/dysmorphic features Suspected deletion or duplication syndrome

Answer 30

* A drug can increase its own metabolism. * A drug can increase the metabolism of a coadministered drug. * This may reduce drug plasma concentrations below therapeutic levels.

Answer 31

meiosis I or II nondisjunction in moms or meiosis II non-disjunction in dad

Answer 32

Multiply V_d by Target Concentration (TC).

Answer 33

upstream region of regulated genes adjacent to the promoter a sequence of DNA which is a binding site for specific proteins that help to regulate gene expression

Answer 34

by plotting the logarithm of the plasma drug concentration vs time.

Answer 35

Prototype of muscarinic antagonists Reversible competitive antagonist at muscarinic receptors Tertiary amine: both central and peripheral muscarinic blocker

Answer 36

Competitively inhibit dihydrofolate reductase makes tetrahydrofolic acid cnacer cells become resistant to MTX by amp. of gene for dihydrofolate reductase. Anti-Cancer. Treats psoriasis, rheumatoid arthritis, neoplastic disease. LUKEMIA!

Answer 37

Philadelphia Chromosome t(9;22)(q34;q11)

Answer 38

plots the fraction of the population that responds to a given dose of drug as a function of the drug dose. characterized by stating the median effective dose (ED50), the dose at which 50% of individuals exhibit the specified quantal effect dose required to produce a particular toxic effect in 50% of animals is called the median toxic dose (TD50). dose required to cause death in 50% of animals is called the median lethal dose (LD50)

Answer 39

Edrophonium Carbamates Organophosphates

Answer 40

Ras activated by binding GTP * It initiates a phosphorylation cascade that activates cellular proliferation * It is quickly inactivated by intrinsic GTPase activity (GTP→GDP) * A constant stimulation is required to continue to grow

Answer 41

* X chromosome monosomy - Usually due to nondisjunction during spermatogenesis * Short stature * Webbed neck, cystic hygroma at birth (neck swelling) * Primary amenorrhea * Gonadal dysgenesis * ‘Streak ovaries’ * Lymphoedema of hands and feet

Answer 42

end product of purine breakdown (adenine, guanine, hypoxanthine) normally excreted in the urine has a low solubility When the blood uric acid levels (hyperuricemia) are high, monosodium urate tends to precipitate in the joint (synovial) fluid causing arthritis (gouty arthritis) – ‘Needle shaped crystals’ Renal stones made up of uric acid may also be seen

Answer 43

Indirect acting cholinergic agonist Treats urinary retention and myasthenia gravis

Answer 44

(a cholinergic muscarinic agonist) into the conjunctival sac. This caused exaggerated miosis. Like what ophthalmologists

Answer 45

determine the loading dose to quickly achieve a target plasma concentration.

Answer 46

Maintenance dose = dosing rate x dosing interval

Answer 47

form a covalent bond with the enzyme Physostigmine Neostigmine Pyridostigmine

Answer 48

group of disorders characterized by neuronal degeneration

Answer 49

IV bolus injection

Answer 50

Hyaluronan, Chondroitin-4- Sulphate Chondroitin-6- sulphate Heparan sulphate Keratan sulphate Dermatan sulphate

Answer 51

Some receptors are constitutively active even when there is no agonist. (ex: GBeta) Inverse agonists reverse the constitutive activity of a receptor.

Answer 52

Autoimmune disease, affecting neuromuscular junction Ach receptors get attacked by antibodies in the post synaptic membrane Results in fluctuating weakness and fatigue of skeletal muscles. Ocular, bulbar, limb, and respiratory muscles are all affected.

Answer 53

- smallest Central Neuroglia - phagocytosis of bacteria, injured tissue & debris - Abundant spikes/ruffled border

Answer 54

Gq pathway Phspholipase C PIP2 IP3 and DAG Increase of Ca2+ and activation of PKC

Answer 55

a measure of the apparent space in the body available to contain the drug the volume that would be required to contain all of the drug in the body at the same concentration as it is in the blood.

Answer 56

alpha 1 selective alpha 2 selective

Answer 57

a measure of the concentration or amount of drug necessary to produce an effect of any magnitude The EC50 of a drug is usually used to determine potency.

Answer 58

Metabolism Excretion

Answer 59

It its presence, White blood cells, lymphocytes, divide

Answer 60

* Destruction complex inactivated * β-catenin not degraded * β-catenin moves to nucleus, forms complex with TCF-4 * Activates growth promoting genes

Answer 61

there is a higher incidence of spontaneous abortions in the carrier

Answer 62

1/3 represented by glycine (in each 3 rd position

Answer 63

Elastic artery

Answer 64

Dnmt3 methylates unmethylated DNA MeCP2 recruites either HDAC1 or Dnmt1 HDAC1 deacetylates histones Dnmt1 methylates hemimethylated DNA

Answer 65

Actin binding protein that bundles and helps stabilize thin filaments at Z line

Answer 66

* Most drugs are weak acids or weak bases that are present in solution as both the nonionized and ionized species. * The protonated form of a weak acid is the more liposoluble form * The unprotonated form of a weak base is the more liposoluble form.

Answer 67

Hypertension Angina Heart failure Arrhythmias Asthma Migraine Anaphylactic reactions

Answer 68

* Approximately 60 % of prescription drugs act by binding to G protein linked receptors. * Examples: ▪ Albuterol, a B2 -agonist, is used for asthma. ▪ Propranolol, a B-antagonist, is used for hypertension.

Answer 69

reduces the action of the agonist. This type of antagonism is insurmountable. Emax is decreased.

Answer 70

Yes procollagen helix 3 pro-a-chains

Answer 71

* troponin-C (TnC) binds calcium * troponin-T (TnT) binds to tropomyosin and anchors troponin complex * troponin-I (TnI) inhibits actin-myosin interaction

Answer 72

Eye: Mydriasis & cycloplegia (M3 blockade) GI: Reduces gastric motility (M3 blockade) Urinary system: Decreases hypermotility of urinary bladder (M3 blockade) CV system: Moderate to high therapeutic doses cause tachycardia (Atrial M2 blockade) Secretions: Salivary, sweat and lachrymal glands are blocked. Inhibition of sweat glands may cause high body temperature (M3 blockade)

Answer 73

* Contractile myofilaments are oriented obliquely to the long axis of the myocyte * These are anchored to cytoplasmic and cell membrane densities * Therefore during contraction there is a net shortening of the cell * The cell adopts a globular shape and the nucleus adopts a “corkscrew” shape

Answer 74

Nondepolaizing blockers Competitive antagonist As adjuvant drugs in anaesthesia during surgery to relax skeletal muscle

Answer 75

All factors that contribute to the disease = liability produces normal distribution If: - you have only “good” genes you can have a lot of “bad” environment and still be okay But - if you start out with some “bad” genes, it does not take much “bad” environment to tip you over the edge

Answer 76

Direct acting beta-2 selective adrenergic agonist Causes bronchodilation to treat asthma and COPD

Answer 77

* X chromosome monosomy - Usually due to nondisjunction during spermatogenesis * Short stature * Webbed neck, cystic hygroma at birth (neck swelling) * Primary amenorrhea * Gonadal dysgenesis * ‘Streak ovaries’ * Lymphoedema of hands and feet * Many TS patients are mosaic • Some of their cells are 45,X • Other cells are 46,XX and 47,XXX (indicate mitotic nondisjunction during embryogenesis)

Answer 78

polypeptides consisting of an extracellular hormone-binding domain and a cytoplasmic enzyme domain (tyrosine kinase). play an important role in cellular growth and differentiation. Gain-of-function mutations in these receptors can lead to cancer, so inhibitors are used as anti-cancers.

Answer 79

A drug should be able to reach its site of action after administration. In few situations a drug is directly applied to its target tissue. Example: topical application of an anti inflammatory agent to inflamed skin.

Answer 80

Indirect acting adrenergic agonist Blocks monoamine reuptake Monoamines accumulate in synaptic space. This results in potentiation and prolongation of their central and peripheral actions.

Answer 81

Anaphylactic shock - increased mast cell release of histamine. Edema - increased tissue fluid

Answer 82

amplify the action of endogenous acetylcholine similar effects (but not always identical) to the effects of the direct acting cholinomimetic agonists

Answer 83

➢Vascular smooth muscle ➢Sweat glands ➢Piloerector muscles ➢Liver ➢Adipose tissue ➢Kidney

Answer 84

monosodium urate crystals in joints and soft tissues – Gout

Answer 85

* miRNAs act to reduce the expression of genes by targeting specific mRNAs * Aberrant expression/activity of miRNAs could be tumorigenic * miRNAs have been shown to undergo changes in expression in cancer cells with frequent amplifications and deletions of miRNA loci Reduction of miRNA that could have inhibited oncogene RNA. Increase in miRNA that inhibits tumor suppressor RNA

Answer 86

One or two genes are expressed for triple helix formation

Answer 87

maximum convenience, but absorption may be slower and less complete than with parenteral routes. Ingested drugs suffer first-pass effect: a fraction of the drug is metabolized in the gut wall and the liver before reaching systemic circulation.

Answer 88

* Polydactyly * Cleft lip and palate * Microphthalmia * Microcephaly * Intellectual disability * Cardiac anomalies (VSD or ASD)

Answer 89

* Multiple (\>100) adenomatous polyps develop throughout distal colon * Very high penetrance * ~1% of colorectal cancers * Tumor suppressor gene (affects B- catenin involved in growth control pathway) * Autosomal dominant inheritance Many different mutations of the APC gene (Chrom. 5) are reported (Allelic heterogeneity)

Answer 90

13, 14, 15, 21, 22

Answer 91

Encapsulated sensory receptors Specialized stretch receptor located in the muscle belly Senses changes in muscle length or stretch Contains modified muscle fibers or Spindle Cells

Answer 92

Spring like protein→ keeps thick filament centered between two the Z lines of the sarcomere and prevents excessive stretching

Answer 93

* The most important application of this equation is in the manipulation of drug excretion by the kidney. * If a drug is in a liposoluble form during its passage down the renal tubule, a significant fraction will be reabsorbed by passive diffusion.

Answer 94

Competitive Antagonists (Nondepolarizing blockers) Agonists (depolarizing blockers)

Answer 95

Embryonic: Mesenchyma and Mucous Connective Tissue Proper: Loose, Dense Regular, Dense Irregular Specialized Connective Tissue: Cartilage, Blood, Bone/Hemopoetic, Adipose, Elastic, Reticular

Answer 96

Antibiotic TB blocks formation of 1st phosphodiester bond inhibiting prok. transctiption initiation. prok. RNA polymerase

Answer 97

Oral Sublingual Rectal

Answer 98

a major factor affecting drug distribution, particularly to the brain, where the blood-brain barrier restricts the penetration of polar molecules. Drug penetration into the brain depends on transcellular rather than paracellular transport.

Answer 99

there is signal amplification

Answer 100

Aggrecan, Decorin, Versican, Syndecan can form a bottle-brush structure

Answer 101

To maintain the plasma concentration within a specified range over long periods of therapy

Answer 102

Gene expression regulation Stem cell differentiation Dosage compensation from imprinting. (ex: trisomy rescue) environmental gene expression modulation Whole chromosome inactivation. (ex. X inactivation)

Answer 103

Indirect acting cholinergic antagonist Dx. Myasthenia gravis by causing a rapid increase in muscle contraction

Answer 104

Autosomal recessive COPD, emphesyma, lung diseases. loss of function

Answer 105

Determines the range of plasma levels acceptable when designing a dosing regimen Minimum effective concentration determines the trough plasma concentration. Minimum toxic concentration determines peak plasma concentration.

Answer 106

Transports Pre-miRNA to cytoplasm

Answer 107

Invaginations of the sarcolemma at the A-I junction. Have voltage-sensor proteins/ channels activated by membrane depolarization.

Answer 108

In the vascular smooth muscle cholinesterase inhibitors have minimal effects because most vascular beds lack cholinergic innervation

Answer 109

Top-Down: Full agonist Partial agonist Antagonist Inverse agonist

Answer 110

Non-selective beta adrenergic antagonist decr. HR (B1), decr. myocardial contractility (B1). decr. glycogenolysis (B2), decr. glucagon secretion (B2). Contraindicated for patients with Diabetes (masks tachycardia caused by hypoglycemia) and Astham/COPD (causes bronchoconstriction)

Answer 111

Direct acting alpha-1, alpha2, and beta-1 adrenergic agonist Causes peripheral vasoconstriction and cardiac contractility to increase BP and treat shock.

Answer 112

Irriversible non-selective alpha-adrenergic antagonist Used in pheochromocytomas to control hypertension prior to surgical removal of the tumor.

Answer 113

inhibitors increase strength of contraction Useful to reverse action of nondepolarizing neuromuscular blockers Useful in myasthenia gravis

Answer 114

Nonmalignant tumor of adrenal medulla affecting the chromaffin cells. Secretes catecholamines Episodic hypertension, headaches, palpatations, Tachycardia, Sweating Elevated serum metanephrine. Increased 24-hour urine metanephrines and vanillylmandelic acid

Answer 115

less frequent administration of drugs with short half-lives.

Answer 116

▪ Intellectual disability ▪ Short stature ▪ Depressed nasal bridge, upslanting palpebral fissures, epicanthal folds ▪ Congenital heart defects ▪ Single palmar crease ▪ Develop changes similar to Alzheimer disease at a relatively young age. ▪ One of the genetic factors responsible for Alzheimer is localized to chromosome 21 (amyloid precursor protein APP)

Answer 117

Ganglia, Vomiting center Incr. Gq activity. Galglia depolarization and emesis

Answer 118

anemia, GI disturbance, scaly skin, hair loss, immune deficiency

Answer 119

Indirect acting cholinergic agonist Nerve agent: poison gas

Answer 120

partial avoidance of the first-pass effect.

Answer 121

Direct effects Vasodilation (M3) Decreased heart rate (M2) Decrease in rate of conduction in the SA and AV nodes (M2) Decrease in force of contraction (M2) Some of these direct effects can be obscured by baroreceptor reflexes

Answer 122

Located at the Z line (compare to skeletal muscle) T tubules contain voltage-sensor proteins

Answer 123

Phagocytic; produce cytokines Antigen presenting cells; multinuclear giant cells

Answer 124

Ganglion blockers Neuromuscular blockers Presynaptic blockers

Answer 125

Type I-III fibril-forming Type IV for basement membrane

Answer 126

glycine, proline, desmosine and isodesmosine (lysine‐like)

Answer 127

Fascia Adherens (Adhering junctions) binds cardiac muscle cells at their ends and serves as attachment site for thin filaments Desmosomes bind individual cells together, reinforce FA. Found in transverse and lateral components

Answer 128

sulfa drugs inhibit bacterial folate synthesis PABA analogs

Answer 129

arranged between the myofibrils

Answer 130

forms when a chromosome loses genetic material at the terminal portions & the ends fuse to form a ring like structure

Answer 131

Reversible, non-selective alpha-adrenergic antagonist Used for pheochromocytomas to treat hypertensive crisis resulting from drug overdose

Answer 132

negative Golgi –slightly acidophilic area close the nucleus

Answer 133

24 kcal/kg/day body weight (1 kcal/kg/hour).

Answer 134

methylene tetrahydrofolate (THF)

Answer 135

X-linked recessive hemolytic anemia on ingestion

Answer 136

- prevalent in white matter - straight processes - GFAP

Answer 137

Indirect acting cholinergic agonist Does not enter CNS Long term treatment of myasthenia gravis

Answer 138

Body cells all the same genotype, but gametes may vary.

Answer 139

Tyrosine kinase inhibitor, effective for leukemia. binds to the active site of the fusion protein, bcr-abl (tyrosine kinase) and prevents its activity

Answer 140

yes yes no

Answer 141

* Some genes (constitutive genes) are always expressed within a cell * Constitutive genes are often referred to as “housekeeping” gene.

Answer 142

Myc oncogene is fused to immunoglobulin locus (t 8:14) Level of oncogene expression is increased as myc is now under the regulation of IgH promoter (Active promoter) Increased myc production

Answer 143

1. Small quantity of H2O - for solvation and diffusion 2. Edema

Answer 144

* High pitched, cat-like cry * Micrognathia which influences the cat-like cry and later, speech problems * Severe intellectual disability * Microcephaly * Hypertelorism (widely spaced eyes)

Answer 145

- most common form of spontaneous lesion - breaking of glycosidic bond between base and sugar in purine nucleotides - sugar-phosphate backbone remains but base is lost - if it persists through replication then mutation can occur

Answer 146

inhibits bacterial dihydrofolate reductase

Answer 147

Abnormal collagen production attributed to mutations in genes encoding the α chains in the various collagens. Characterized by hyper mobility of joints of digits, pale thin skin, early morbidity and mortality due to rupture of vessels and internal organs.

Answer 148

Depolarizing blockers binds to the nicotinic receptor and depolarizes the junction. Persists in the synaptic cleft, stimulating the receptorto desensitize it, leading to flaccid paralysis. Rapid endotracheal intubation and ECT

Answer 149

* The endothelial cells of the brain capillaries have continuous tight junctions. * Astrocytic “end feet” surround the outside of capillary endothelial cells. * The P-glycoprotein actively transports drugs back into the systemic circulation.

Answer 150

meiosis I or II in the mom, or nondisjunction during meiosis I in dad

Answer 151

skeletal neuromuscular junction

Answer 152

W/ cyclins E2F not repressed. Cell divides w/o cyclins, Rb/E2F binds DNA. Recruits methylase and histone deacetylase. Blocks transcription, resulting in G! arrest.

Answer 153

Reversible, uncompetitive inhibitor of inosine monophosphate dehydrogenase IMP-\>xanthosine monophosphate-\>GMP deprives rapidly proliferating T and B cells of key components of nucleic acids prevents graft recognition

Answer 154

Complex glycoproteins and high-mannose glycoproteins are formed in the Golgi.

Answer 155

* Aspirin at high doses * Ethanol * Phenytoin

Answer 156

Inhibition of the ribosome ability to translate protein from mRNA transcript

Answer 157

One oligodendrocyte for several axons

Answer 158

Pericentric

Answer 159

1. Epithelium 2. Nervous Tissue 3. Muscle 4. Connective Tissue

Answer 160

Endomysium- En Delicate layer of reticular fibers surrounding an individual muscle fiber small blood vessels and very fine neuronal branches

Answer 161

non selective alpha blocker alpha 1 selective blocker

Answer 162

Irregular cell membrane / cytoplasmic extensions (pseudopodia)

Answer 163

Muscarinic Cholinergic Antagonist. Belladonna alkaloid Blocks respiratory tract secretions prior to surgery. Anti-Cholinergic everything. hot as a hare, dry as a cracker, red as a beat, mad a a hatter

Answer 164

Indirect acting cholinergic agonist Toxic insecticide

Answer 165

inhibitor of ribonucleotide reductase, which makes ribonucleotides into deoxyribonucleotides

Answer 166

- macroglossia (enlarged tongue) - birth weight and length greater than 90 percentile - abdominal wall defects such as umbilical hernia - ear creases or pits -neonatal hypoglycemia - increased risk of cancer IVF increases risk

Answer 167

mutation in the Dnmt3b gene. facial dysmorphism, mental retardation, recurrent and prolonged infections, and variable immune deficiency with a constant decrease of IgA

Answer 168

Smoking cessation therapy

Answer 169

soft tissues tophi

Answer 170

Single network along the sarcomere extending from Z line to Z line less developed than the one in skeletal muscle – Terminal cisterna contain Ca2+ release channels to release Ca2+ into sarcoplasm

Answer 171

derived from long dsRNAs and ‘random’ processing regulates expression by mRNA degradation often exogenous (from outside the cell, i.e. Virus or injected)

Answer 172

quaternary ammoniums Poorly absorbed and poorly distributed into the CNS. differ in their susceptibility to hydrolysis by cholinesterase Acetylcholine is very rapidly hydrolyzed

Answer 173

Transfer of drug to the bloodstream from administration site. Rate and efficiency depend on route of administration For IV delivery, absorption is complete: the total dose reaches systemic circulation Drug delivery by other routes may result in only partial absorption.

Answer 174

* Incomplete closure of the spine * Can be quite variable in severity * Repair may be done in utero or postnatally but successful outcomes are variable

Answer 175

the fraction of drug absorbed into the systemic circulation

Answer 176

irreversibly inhibits xanthine oxidase forms uric acid by degrading purines binds to Molybdenum-sulfide complex in enzyme. used to limit uric acid production in pts. with gout.

Answer 177

Elastic Connective Tissue 1. Elastic fibers - yellow colored 2. Ligamentum flavum, vocal ligament, suspensory ligament of the penis

Answer 178

Formation of a mannose-rich oligosaccharide bound to the lipid dolichol pyrophosphate.

Answer 179

Indirect acting cholinergic agonist Treats Atropine overdose

Answer 180

Renal corpuscle and convoluted tubule of the kidney PAS stain of glycoproteins and proteogylcans

Answer 181

one large fat droplet ‐ "white" fat 1. Typical fat cell ‐ signet ring cell. 2. Large fat inclusion; organelles/ nucleus pushed to periphery of the cell. 3. Major energy source ‐triglycerides 4. Rich blood supply.

Answer 182

Yes: allysine residues and special: desmosine

Answer 183

1) May underestimate heritability (only addresses differences between 100% and 50% identical genomes) 2) MZs do have some different genes (e.g. mitochondrial genes) and epigenetic differences 3) Different environmental exposures (in utero and outside) 4) Different genes in different twin pairs (studies between different sets of twins may point to different contributors for same phenotype) 5) Most studies do NOT specify the loci and alleles but how genotype and environment interact

Answer 184

Thick filament •Motor proteins aggregated tail to tail to form thick myosin filaments

Answer 185

Autosomal Dominant Inheritance Loss of function in the WT1 gene on Chromosome 11, which encodes a transcription factor important in the control of cell growth and differentiation. This is a renal cancer.

Answer 186

Salivation Flushing Hypotension Nausea Abdominal Pain Diarrhea Bronchoplasm

Answer 187

metabolized in vivo into intermediates that inhibit the denovo synthesis of purine nucleotides Used as anticancer agents (leukemia); also used as immunosuppressive agents in a variety of disorders

Answer 188

Nicotinic cholinergic antagonist. Depolarizing Causes flaccid paralysis. Used for rapid endotrachial intubation

Answer 189

Alanine, valine, proline, lysine rarely hydroxylated

Answer 190

Repressors Activators • A given gene (or group of genes) may use either or both types of protein for regulation

Answer 191

Direct acting Cholinergic Agonist Used to Diagnose Asthma by causing bronchoconstriction METHacholine. Meth gets inhaled. this drug relates to breathing.

Answer 192

alpha-1 selective adrenergic antagonist decr. blood pressure. Used to treat hypertension, DOC for symptom relief, relaxing bladder smooth muscle.

Answer 193

Body cells vary in genotype. Ex. some cells XXY and some XXXY in kleinfelter's

Answer 194

bladder wall is composed of smooth muscle, innervated by * sympathetic (B2 receptors) * parasympathetic (M3 muscarinic receptors)

Answer 195

Phenylalanine Valine Tryptophan Threonine Isoleucine Methionine Histidine Arginine Lysine Leucine

Answer 196

Encapsulated proprioceptor located at the myotendinous junction Senses tension in the muscle Sensory component of the Golgi tendon reflex

Answer 197

Needs the extracellular protein fibrillin as scaffold

Answer 198

Brown Fat Characterized by:  Many lipid droplets  Central nucleus  Rich in mitochondria  Highly vascular  Rich in innervation  Lipochrome pigments  Main function ‐ heat production  Specialized locations in the body neck, abdomen of neonates

Answer 199

Non-disjunction occurs as a post-zygotic mitotic nondisjunction from normal egg and normal sperm. Trisomy 21 @ conception. Post-fertilization mitosis evicts one Chrom. 21, so some cells are normal and some are trisomy.

Answer 200

waves of mutation clonal expansion

Answer 201

bind to or near an operator region and allow RNA polymerase to initiate transcription

Answer 202

Hexamethonium Nicotine

Answer 203

Renal excretion A small number of drugs are excreted in the bile

Answer 204

Reactions of metabolism enhancing the hydrophilicity of drugs and their metabolites.

Answer 205

small islands of cytoplasm within lamellae of myelin

Answer 206

the glycosylation of proteoglycans, mucins, glycoproteins and blood group substances.

Answer 207

Heart and Presynaptic nerve terminals Opening of K+ channels, decr. cAMP, incr Gi activity Bradycardia, ACh release inhibition

Answer 208

Mixed acting adrenergic agonist Penetrates the CNS, Induces Norepinephrine release, acting as a vasopressor. used as a spinal anesthesia.

Answer 209

Loose (areolar) Connective Tissue 1. Fills spaces between other tissues - large number of cells 2. Flexible, rich blood supply, not resistant to stress

Answer 210

Yellow: Stroma (Connective tissue) with supportig structures Blue: Parenchyma (epithelium, nerve, muscle). Functional unit.

Answer 211

binds imperfectly to the 3’ untranslated region of TARGET mRNA

Answer 212

Directly proportional. Doubling the infusion rate doubles the Css without increasing the time needed to reach that concentration.

Answer 213

Joint fluid aspiration microscopic examination revealed the presence of needle shaped monosodium urate crystals in the synovial fluid

Answer 214

* Self-sufficiency in growth signals * Insensitivity to growth-inhibitory signals * Evasion of apoptosis * Escape from immune attack * Limitless replicative potential

Answer 215

are attachment sites between adjacent cardiac myocytes

Answer 216

Fluctuations in the plasma level of the drug. Plasma level will peak and decrease exponentially over time.

Answer 217

the study of effects of drugs and their mechanisms of action.

Answer 218

troponin-C (TnC) troponin-T (TnT) troponin-I (TnI)

Answer 219

free purine bases in the intestine

Answer 220

Surrounds the sarcomere at Z lines attaching them to one another and to the sarcolemma

Answer 221

the study of the use of drugs in the prevention and treatment of disease.

Answer 222

Produce proteins that inhibit the cell cycle preventing cell proliferation loss of function mutation results in cancer Mutations in TWO copies required to cause cancer

Answer 223

Chemotherapy used to treat some forms of leukemia functions by inhibition of the purine biosynthetic pathway which are needed for the formation of nucleotides, and thus production of DNA, and RNA

Answer 224

Most drugs that target enzymes act by inhibiting enzyme activity. Examples: * Aspirin * Ibuprofen * Omeprazole

Answer 225

* The effects of most drugs result from their interaction with macromolecular components of the organism. * Drug molecules must bind to particular constituents of cells and tissues in order to produce an effect. * Most drug targets are proteins. * In most cases, drugs bind to their receptor by forming hydrogen, ionic, or hydrophobic bonds with the receptor. * In a few cases, drugs form covalent bonds with their receptor.

Answer 226

Nicotinic cholinergic antagonist Previously used for hypertension. Discontinued due to adverse effects.

Answer 227

Fluctuating weakness and fatigue of skeletal muscles Ocular, bulbar, limb and respiratory muscles are affected

Answer 228

Multiple oral drug administrations: The oscillations in plasma concentration are influenced by both rate of drug absorption and rate of drug eliminantion

Answer 229

the agonist concentration-effect curve shifts to the right Emax for the agonist remains the same

Answer 230

Yes: allysine and hydroxy-allysine residues for covalent cross-linking

Answer 231

yes yes yes

Answer 232

Botullinum toxin

Answer 233

Yes linear tropoelastin

Answer 234

X-linked dominant affects females more, male lethal. Children develop normally until 6 to 18 months lose of speech and acquired hand skills. Most develop seizures, repetitive hand movements, irregular breathing and motor control problems. MeCP2 Ca2+ binding protein defect

Answer 235

Short, narrow, branching. 80-100µm in length Present striations Spherical nucleus, Mono or binucleated. Centrally located Involuntary, autonomic Diad at Z lines Fasciae adherents, Macula Adherens, Gap junctions Hypertrophy No regeneration in normal conditions.

Answer 236

▪ Intellectual disability ▪ Short stature ▪ Depressed nasal bridge, upslanting palpebral fissures, epicanthal folds ▪ Congenital heart defects ▪ Single palmar crease ▪ Develop changes similar to Alzheimer disease at a relatively young age. ▪ One of the genetic factors responsible for Alzheimer is localized to chromosome 21 (amyloid precursor protein APP)

Answer 237

Dry mouth, blurred vision, sandy eyes, tachycardia, constipation, urinary retention Effects on CNS: restlessness, confusion, hallucinations, delirium

Answer 238

Two transcription factors bind together to form a functional DNA binding unit called a dimer. Formation of a dimer adds an extra element of complexity and versatility

Answer 239

1. Few cells or fibers - mainly ground substance ("jelly"-like) 2. Umbilical cord (Wharton’s jelly) 3. Other examples – cardiac jelly, vitreous humor in eye.

Answer 240

- males are more prone to get the condition (lower liability threshold) - therefore, for a female to be affected, she must be at the high end of the curve (has more ‘contributing’ genes) - therefore, the children (or siblings) of an affected female are more at risk of having the condition than if she was a he - and her sons (or brothers) are more at risk than her daughters (or sisters)

Answer 241

* Mutation of DNA mismatch repair (MMR) genes (Caretaker genes) * At least five genes can be responsible (Locus heterogeneity) mostly MSH2 and MLH1 * Genes/proteins not directly involved in control of cell division = mutator genes * Cells accumulate mutations at rates up to 1000 times higher than normal * Tumors also exhibit microsatellite instability. (Short repetitive sequences of DNA)

Answer 242

* Clenched fist, overlapping of fingers * Rocker bottom feet * Congenital heart defects * Low-set ears, small lower jaw (micrognathia) * Microcephaly * Intellectual disability

Answer 243

autoimmune disease which affects neuromuscular junction Acetylcholine (Ach) receptor antibodies, which block and attack ACh receptors in the postsynaptic membrane

Answer 244

yes yes no

Answer 245

a piece of tissue is removed as a whole -for example like the mesentery - and placed on a slide, stained and the contents visualized through microscope. The cells and the fibers can be visualized. The cellular component is predominant – loose connective tissue.

Answer 246

* Gynecomastia * Female distribution of hair * Infertility and testicular atrophy due to low levels of testosterone * Feminization of features

Answer 247

Invaginations of cell membrane

Answer 248

Normal → Hyperplastic → Dysplastic → Neoplastic → Metastatic

Answer 249

Beta-1 selective adrenergic antagonist decr. BP in patients with Diabetes and Asthma/COPD

Answer 250

* Rifampin * Phenobarbital * Carbamazepine

Answer 251

triple repeat GAA\ heterochromatin formation

Answer 252

Epimysium- E Dense connective tissue encases multiple fascicles Contains major blood vessels and nerves Continues with tendon to attach muscle at the myotendinous junction

Answer 253

associated with membrane dystroglycans (Limb-Girdle Muscular Dystrophy)

Answer 254

* Treatment involves enzyme replacement or bone marrow replacement * It was the first disorder in which gene therapy was successful.

Answer 255

Brown adipose tissue Cells -smaller Nucleus -central Lipid droplet -many Function -energy release

Answer 256

1. New mutation 2. Natural selection 3. Genetic drift 4. Consanguinity

Answer 257

Binds to the enhancer binding proteins or other transcription factors and modulates their function

Answer 258

Invaginated folds of pia mater containing tufts of fenestrated capillaries covered by simple cuboidal ependymal cell in ventricles of the brain

Answer 259

Enzymes bound in the Golgi membrane recognize the structures and link the correct sugars directly to the growing glycoproteins. The different oligosaccharides are often branched first sugar is linked to the OH-group of a serine or threonine residue of the protein.

Answer 260

Releasing Agents Uptake inhibitors

Answer 261

anticoagulant actions contains many iduronyl sulfates and is the GAG with the largest amount of sulfates and negative charges. contained in mast cells that line arteries of lung, liver and spleen released from intracellular granules and acts as anticoagulant by ending the blood clotting by facilitating inhibition of thrombin.

Answer 262

1) Risk of recurrence is higher in relatives of severely affected individuals 2) Recurrence risk is high in close relatives and decreases rapidly in more distant relations (e.g. risk in 1st degree relatives = ~4%, 2nd = 1%, 3rd = 0.5%) 3) Greater risk if more than one close relative is affected \*\*This is unlike Mendelian genetics where risk does not change, e.g. for autosomal recessive, all offspring of heterozygous parents have ¼ risk 4) in sex biased traits (e.g. more frequent in males)

Answer 263

Scar when raised than normal, but within original wound boundary, is called hypertrophic scar. When in excess of the boundary, extending into surrounding tissue is called a keloid scar.

Answer 264

* Other genes only need to be expressed at certain times * Therefore, to reduce wasted effort, many genes are regulated, and only expressed under certain conditions

Answer 265

* Polydactyly * Cleft lip and palate * Microphthalmia * Microcephaly * Intellectual disability * Cardiac anomalies (VSD or ASD)

Answer 266

repressor protein binds to the activation domain of an activator protein and prevents it from interacting with the basal transcriptional machinery

Answer 267

Adipocytes incr. cAMP incr. lipolysis

Answer 268

intracellular regulate the expression of genes controlling metabolism and development Members of the nuclear receptor superfamily include receptors for Steroid hormones Thyroid hormone Vitamin D

Answer 269

Direct acting, nonselective Beta adrenergic agonist Incr. HR (B1), vasodilation and bronchodilation (B2). Treats bradycardia and acute heart block

Answer 270

Short, Fusiform, 20-200µm in length no striations Leech shaped, Mononucleated, central Involuntary, autonomic No T-Tubules. Caveolae Gap junctions Hypertrophy and hyperplaia Regeneration present.

Answer 271

ATP and PRPP

Answer 272

Partial beta agonist (antagonist classification). Treats patients with decr. cardiac reserve or propensity to bradycardia. Incr. HR in them.

Answer 273

- prevalent in the gray matter - branching cytoplasmic processes - maintain the blood-CSF barrier - GFAP

Answer 274

Ephedrine Pseudoephedrine

Answer 275

Pilocarpine Nicotine

Answer 276

- depurination - deamination - oxidative damage

Answer 277

- Central Neuroglia prevalent in white matter - straight processes - GFAP

Answer 278

the drug enters systemic circulation directly. The drug bypasses first-pass effect.

Answer 279

more rounded peak

Answer 280

Presynaptic blocking cholinergic antagonist Injected into muscles to treat spasms and cosmetically correct wrinkles.

Answer 281

Yes: some hydroxylysyl residues (no glycosylation of hydroxyprolyl residues)

Answer 282

Nicotinic cholinergic antagonist Anesthesia to relax skeletal muscle during surgery Numbing. when you get a TUBAL ligation you need numbing.

Answer 283

Caps protein which maintains and regulates length of actin filaments

Answer 284

oxytalan (1st), elaunin (2nd), elastic (3rd)

Answer 285

binds calcium

Answer 286

Large, elongate, up to 100cm in length Present Striations Spherical nucleus. Multinucleated. Periphery of cell. Voluntary, somatic innervation Triad at A-I junction No cell-cell junctions Hypertrophy Limited regeneration; satellite cells.

Answer 287

Immunoglobulins are glycoproteins.

Answer 288

Therapeutic window Clearance V_d

Answer 289

Originate in the bone marrow from precursor cells migrate to connective tissue or lamina propria of mucosae, proliferate and accumulate cytoplasmic granules. Mast cells and basophils circulating in the blood are derived from the same progenitor in the bone marrow.

Answer 290

Dysregulation of c-Myc gene expression, leading to cancer

Answer 291

All proteins receive the same oligosaccharide and only later the sugars are individually modified in the RER and Golgi dependent on the protein.

Answer 292

derived from specific ds-pre-miRNA species regulates expression by repressing mRNA translation Mostly endogenous (from genome)

Answer 293

cell loss disorder

Answer 294

Quarternary Ammonium Muscarinic Antagonist Tertiary Amine Muscarinic Antagonist

Answer 295

- smallest - phagocytosis of bacteria, injured tissue & debris - Abundant spikes/ruffled border

Answer 296

macrocytic anemia and decreased rates of cell division

Answer 297

1. Cartilage 2. Bone 3. Blood

Answer 298

defined as the ratio of the TD50 to the ED50 for a therapeutically relevant effect TD50/ED50 LD50/ED50 The therapeutic index of a drug in humans is almost never known with real precision. The TI represents an estimate of the safety of the drug. A very safe drug will have a very large toxic dose and a small effective dose

Answer 299

Muscainic cholinergic antagonist treats COPD and asthma

Answer 300

When with full agonists, partial agonists can act like competitive antagonists, thus reducing response to the full agonist.

Answer 301

Nicotinic receptor antagonist

Answer 302

* sympathetic (D1 receptors) * parasympathetic (muscarinic receptors) innervation.

Answer 303

1. Nerve impulse arrives at neuromuscular junction 2. Ach -\> synaptic cleft. Sarcolemma depolarizes 3. Voltage-gated Na+ channels open & Na+ enters cell 4. Depolarization spreads to T tubules 5. Ca2+ release channels activated 6. Ca2+ rapidly released from sarcoplasmic reticulum 7. Ca2+ binds to TnC of the troponin complex 8. Contraction cycle initiated and Ca2+ returns to terminal cisternae

Answer 304

Muscarinic cholinergic antagonist Belladonna Alkaloid Treats motion sickness

Answer 305

False. EC50 \< KD.

Answer 306

oxidative metabolism -\> reactive oxidative compounds -\> oxidative damage -\>mispairing with Adenosine and potential transversion

Answer 307

inhibits conversion of IMP to GMP by IMP dehydrogenase Used following transplantation to prevent transplant rejection

Answer 308

between acrocentric chromosomes There is loss of the short arms of the two chromosomes Fusion of the long arms of the two chromosomes

Answer 309

➢Autonomic Ganglia ➢Adrenal medulla ➢Brain

Answer 310

Perimysium- P Groups of skeletal myocytes/fibers form a fascicle (F), each of which is surrounded by a layer of connective tissue or perimysium Contains larger blood vessels and nerves

Answer 311

ganglionic stimulation by depolarization The response resembles simultaneous discharge of both parasympathetic and sympathetic nervous systems

Answer 312

Lysosomal storage disease, many different inclusion bodies, lack of many lysosomal enzymes. Lysosomal enzymes are released into the blood instead. Transport into lysosomes is defective, lack of phosphorylase to form the mannose 6-P marker. N-glycosylation itself is normal

Answer 313

decreased elastic fibers (fibrillin gene) Autosomal dominant disorder involving the deficiency of the protein fibrillin 1. This results in tall stature, long limbs, fingers and toes. Cardiovascular manifestations can include aortic aneurysm and mitral valve prolapse.

Answer 314

There is a relationship between the effect of a drug and its concentration in the blood.

Answer 315

a. Mesenchyme b. Mucous

Answer 316

1. Extracellular growth factors initiate. 2. Growth factors bind to Tyrosine Kinase receptor on cell surface 3. Cascade of activation of GTP binding proteins (RAS) triggered 4. Intracellular proteins phosphorylated by intracellular kinases. 5. Transcription factors are activated and turn on genes involved in driving cell division. Mutations of anything in this pathway results in oncogenesis.

Answer 317

Hereditary collagen defect Type I: least severe, long bone fractures, blue sclerae in some patients Type II: most severe, death in utero or later Type III and IV: severe, bone malformations, teeth.

Answer 318

Dense Irregular Connective Tissue 1. Fewer cells, more fibers than loose (areolar) tissue 2. No orientation of collagen fibers - resistance to stress in all directions 3. Organs capsules, periosteum, dermis

Answer 319

helps anchor thin filaments at Z line and regulates length of thin filaments during development

Answer 320

Reticular Connective Tissue 1. Reticular cells (modified fibroblasts) - cytoplasmic extensions cover reticular fibers 2. Framework for myeloid (bone marrow) and lymphoid (lymph nodes, spleen) organs

Answer 321

Autosomal Recessive, mutations in 9 different NER genes can produce XP clinical sun sensitivity ocular involvement = conjunctivitis, ocular tumours DNA damage is cumulative and irreversible

Answer 322

thymidine analog anticancer

Answer 323

Hereditary Elastin Defect deficiency of fibrillin-1 gene, elastin gene is normal

Answer 324

bind to the agonist binding site on the receptor, may be reversible or irreversible

Answer 325

* The rapid fall is the distribution phase. * The slower phase is the elimination phase.

Answer 326

1. Small, spherical cell – scant cytoplasm 2. Condensed, basophilic nucleus 3. Immune cells – B and T cells 4. B‐lymphocytes develop into plasma cells

Answer 327

V_d=Dose/C₀

Answer 328

found in layers III, V Small, medium and large pyramidal cells

Answer 329

Direct acting alpha-1 selective adrenergic agonist Causes vasoconstriction and is used as a nasal decongestant and pupil dilator.

Answer 330

Plasma concentration increases until steady state is reached. The pasma concentration fluctuates about a mean.

Answer 331

The mutant CFTR does not transport Clinto the airway lumen As a result, Na+ and H2O content of the luminal secretions is low, resulting in thickened and viscid mucus secretions The viscid secretions are more prone for bacterial infections, which is most common cause of morbidity and mortality among CF patients

Answer 332

Outer layer Stellate cells Basket cells

Answer 333

Most severe of the neural tube defects * Rare and it is fatal * Underdeveloped brains and incomplete skulls * May have brain stem function * Most do not survive more than a few hours after birth

Answer 334

Attachment: Myosin head bound to Actin. No ATP Release: ATP binds to myosin head. actin conformational change. decr. actin/myosin affinity. Myosin head released. Bending: ATP hydrolysis. Conformation change. Mysoin head moves. Force generated. myosin head weak binds to next actin. affinity incr. Generates force and returns to original actin. straightens. thin filament moves. inorganic phosphate release. repeat.

Answer 335

Atropine Scopolamine

Answer 336

Defect in BLM gene (a DNA helicase enzyme) required for replication repair, recombination - Chromosomal instability resulting in many chromosomal breaks and sister chromatid exchanges - Higher risk of a broad range of cancer types

Answer 337

Increase the frequency of mutations in cells

Answer 338

when muscarinic effects are blocked, ACH yields nicotinic effects, which include increased BP and vasoconstriction. This is due to sympathetic stimulation and epinephrine relaese from adrena medulla.

Answer 339

Complex of one T tubule and one adjacent terminal cisternae at the Z line In Cardiac muscle

Answer 340

yes yes yes

Answer 341

graded and quantal

Answer 342

Thick filament, myosin proteins aggregate tail to tail to form a thick myosin filament

Answer 343

until the amount administrated per unit time is equal to the amount eliminated per unit time. When rate in equals rate out, this is steady state.

Answer 344

Autosomal recessive buildup of dATP toxic to B and T cell development. Adenosine Deaminase deficiency. loss of function, locus heterogenity untreated kids die before age 2. High buildups of dATP in red blood cells. it inhibits ribonucleotide reductase and therefore DNA synthesis.

Answer 345

the study of how the function of living systems is affected by chemical agents.

Answer 346

This transforms the hyperbolic curve into a sigmoid curve.

Answer 347

the regulatory step of pyrimidine biosynthesis (compare to CPS I of urea cycle)

Answer 348

Increased maternal age, increases risk of meiotic nondisjunction during oogenesis (most common is meiosis I nondisjunction)

Answer 349

Direct acting Beta-1 selective adrenergic agonist Causes mild vasodilation and incr. HR. (mild chronotropic effects). incr. myocardial O2 consumption. Treats acute heart failure

Answer 350

immediately after the drug has been given IV

Answer 351

Silent Transformation to cancer and increased growth rate of cells

Answer 352

Myosin binding protein that aligns thick filaments at M line

Answer 353

1 neuromuscular junction per muscle fiber Enters close to the origin of the muscle fiber Depolarization propagated along entire length sequentially each sarcomere contracts independently.

Answer 354

can be predicted by a knowledge of which division of the autonomic nervous system exercises dominant control of various organs The effect of the ganglion blocker is to remove the dominant control

Answer 355

Direct acting Indirect acting

Answer 356

Middle layer Single layer of motor neurons apical dendrites that arborizes in molecular layer. single axon extends into granular layer. beginning of outflow from cerebellum

Answer 357

1. Skin 2. Blood vessel 3. Heart valve

Answer 358

Tubocurarine Succinylcholine

Answer 359

The transversely oriented parts of the intercalated disk (T) which is at right angle to the myofibril like the risers of a stairway The longitudinal or lateral parts (L) are parallel to myofibril like the steps of a stairway Mitochondria (M) are abundant in cardiac muscle due to the high metabolic demands of these cells

Answer 360

Dystroglycans Sarcoglycans

Answer 361

– Analogs of Z lines in striated muscle – Distributed throughout the sarcoplasm in a network of intermediate filaments * Desmin * Vascular smooth muscle contains vimentin in addition to desmin

Answer 362

special GAG 1. NOT sulfated. 2. NOT covalently attached to a protein. 3. Synthesized step by step directly into the extracellular space. 4. Provides extracellularly the central strand in proteoglycan aggregates. 5. connected to the core proteins via link proteins.

Answer 363

HER2+ tumors have increased HER2 receptors on the tumor HER-2 overexpression in sporadic breast cancer Addition of Herceptin to the treatment, results in decreased tumor cell proliferation Antibody binds to HER2 and prevents binding of growth factor to HER2 Herceptin is very effective for HER2+ tumors but not effective for treatment of HER2- tumors

Answer 364

thymidine analog anticancer

Answer 365

magnitude of the response a drug produces Maximal efficacy (sometimes referred to simply as efficacy), is the greatest effect a drug can produce (Emax).

Answer 366

* Children present with episodes of repeated infections * Lab tests indicate T-cell deficiency

Answer 367

one has it but the other does not

Answer 368

* Blood flow * Drug binding to plasma and tissue proteins * Capillary permeability * Drug hydrophobicity

Answer 369

nondisjunction during meiosis

Answer 370

Cholinesterase inhibitors. they increase concentration of endogenous acetylcholine.

Answer 371

multiple copies of genetic material for RNA

Answer 372

MDR1 a Gut lumen transporter protein responsible for transporting several drugs across cell membranes. P-glycoprotein reduces drug absorption.

Answer 373

Alternating hydrophobic and hydrophilic domains, stretch and recoil

Answer 374

inhibits actin-myosin interactions

Answer 375

1. Most common cell in connective tissue. 2. Synthesize fibers and ground substance 3. Spindle‐shaped, may be active (fibroblasts) or inactive (fibrocytes). 4. Myofibroblasts ‐ wound healing. Presence of contractile filaments

Answer 376

- epithelium lining CNS cavities - cuboid to columnar - characteristic fluid transporting cells(cilia, microvilli, basal infoldings) - choroid plexus: modified ependymal cells interact with capillaries

Answer 377

myosin binding. alligns thick filaments at M line

Answer 378

preoptic anterior hypothalamus

Answer 379

impaired T-cell function decreased uric acid production and increased purine nucleosides and nucleotides.

Answer 380

Meshwork of tissue in grey matter excluding the cell bodies Comprised of: dendritic and axonal processes, central glial cells

Answer 381

* Cimetidine * Erythromycin * Chloramphenicol * Grapefruit juice

Answer 382

connective tissue ‐ macrophages liver ‐ Kupffer cells brain ‐ microglia bone ‐ osteoclasts

Answer 383

Direct acting Cholinergic Agonist Treats Glaucoma and dry mouth from Chemo

Answer 384

plan for drug administration over a period of time should result in therapeutic levels of the drug in blood without exceeding the minimum toxic concentration

Answer 385

contain a sulfated galactose in position-1. They are the most heterogenous regarding their sugars. found in cartilage and in the cornea where it is needed for transparency.

Answer 386

inhibits dihydrofolate reductase.

Answer 387

Indirect acting adrenergic agonist Norepinephrine releasing agent. Incr. BP (alpha) and Incr. heart rate (beta) to treat ADHD and narcolepsy.

Answer 388

Basophilic cytoplasm (^RER)

Answer 389

a disorder in which a person exhibits diminished sweating in response to appropriate stimuli.

Answer 390

female meiosis I

Answer 391

By prolonged depolarization. Example: Nicotine By antagonism of nicotinic receptors. Example: Hexamethonium

Answer 392

PAX3 paternal mutation hearing loss locus heterogenity

Answer 393

* Trait does not demonstrate a simple Mendelian pattern of inheritance * Familial aggregation * More common among the close relatives of the proband and less common in relatives who are less closely related * Environment also interacts with genotype to produce the final phenotype

Answer 394

- macroglossia (enlarged tongue) -birth weight and length greater than 90 percentile -abdominal wall defects such as umbilical hernia -ear creases or pits -neonatal hypoglycemia -increased risk of cancer - maternal chromosomal rearrangements of 11p15 (imprinted region) -paternal uniparental disomy (UPD) -abnormal methylation at 11p15

Answer 395

a) Breakdown in DNA repair and genomic stability b) sustained angiogenesis

Answer 396

forms a network around the myofibrils (Ca2+ reservoir) Extends from one A-I junction to the next A-I Forms the terminal cisterna at the end of each network

Answer 397

Dense Regular Connective Tissue 1. Specific orientation of collagen fibers 2. Tendons / ligaments 3. Imparts tensile strength

Answer 398

aberrant methylation of the gene resulting in gene silencing (Epigenetic mechanism) Gene methylation leading to silencing Mutations in DNA silencing mechanisms

Answer 399

- Central Neuroglia prevalent in the gray matter - branching cytoplasmic processes - maintain the blood-CSF barrier - GFAP

Answer 400

Oncogenesis depends on Ras hyper-activity (overactivity) • Ras-GTP activates Growth pathway • Ras-GDP inactive (No growth) Many mutations inhibit GTPase activity = Ras becomes constitutively active

Answer 401

1. Population is large 2. Random mating between individuals * No consanguineous mating * No mate selection based on genotype 3. No new mutations in the population 4. No migration of individuals into the population

Answer 402

* Gynecomastia * Female distribution of hair * Infertility and testicular atrophy due to low levels of testosterone * Feminization of features

Answer 403

presynaptic nerve terminals, adipocytes, Pancreatic beta cells, vascular smooth muscle decr cAMP and Ca2+ channels. Incr. K+ channels. Ca2+ incr. only in vascular smooth muscle. decr. NE release, decr. lipolysis, decr. insulin release, Contraction

Answer 404

Metabolized to NO -\> activates guanylyl cyclase GTP-\>cGMP cGMP causes smooth muscle relaxation, platelet aggregation and aids in visual system vasodilation

Answer 405

Ipratropium Used in the treatment of chronic obstructive pulmonary disease (COPD) and asthma

Answer 406

the physiological mechanisms of drug elimination (enzymes and transporters) are not saturated. For drugs with first-order kinetics of elimination the rate of elimination is directly proportional to drug concentration

Answer 407

1/3 represented by glycine but hydrophilic, hydrophobic regions

Answer 408

alpha-adrenergic blockers beta-adrenergic blockers

Answer 409

Endogenous Catecholamines alpha-adrenergic beta-adrenergic Releasing agents (NEP) Uptake inhibitors

Answer 410

* Loss of contact inhibition of growth * Loss of cell-cell adhesion * Ability to invade other tissues

Answer 411

Autosomal dominant stunting of growth, homozygous lethal. GOF mutations, new mutation, high dad age=high de novo risk

Answer 412

X-linked recessive abnormal B-cell development locus heterogenity

Answer 413

Autosomal recessive loss of function mutations

Answer 414

Extremely elastic ‐ 5x more than rubber (150% their resting length) Found in large arteries, elastic cartilage, vocal ligament, bronchi, etc. Special staining required ‐ orcein, resorcin or Verhoeffʼs

Answer 415

Paracentric

Answer 416

dangerous to dividing cells; high probability of loss of genetic material or chromosomal rearrangement non-homologous end joining (more common) recombinational repair (joins homologues. less error prone)

Answer 417

Inhibitor of acetylcholine release Injected locally into muscles for treatment of several diseases involving muscle spasms Also approved for cosmetic treatment of facial wrinkles

Answer 418

phosphorylate the enzyme. The covalent bond formed is extremely stable and hydrolyzes very slowly Synthetic compounds Many are extremely toxic. used as insecticide Insecticides and Nerve agents

Answer 419

* May be pericentric (involves the centromere) or paracentric (does not involve the centromere) * Usually balanced & no clinical problems in carriers * Inversions usually result in a change in the banding pattern of the chromosome and can be identified by karyotype analysis. (2 genes switch places on chromosome).

Answer 420

Indirect acting adrenergic agonist Norepinephrine releasing agent. Acts as a vasopressor (when combined with MAO inhibitor). It is an antidepressent.

Answer 421

Triple-helix of collagen stabilized by hydrogen bonds (hydroxyproline)

Answer 422

Antidote for cholinergic agonists block respiratory tract secretions prior to surgery

Answer 423

* Drugs are chemicals that alter basic processes in body cells. * They can stimulate or inhibit normal cellular functions. * They cannot add functions.

Answer 424

UTP feedback inhibition

Answer 425

Belladonna Alkaloids Synthetic and semisynthetic

Answer 426

Non selective beta Beta 1 selective Beta 2 selective

Answer 427

Fraction of administered dose of a drug that reaches the systemic circulation. Determined by plotting plasma concentrations of the drug vs. time, the area under the curve (AUC) can be measured. and by comparing the AUC after a particular route of administration with the AUC after IV injection AUC = extent of absorption

Answer 428

catalyzes a methylatation reaction to inactivate the drug.

Answer 429

Large, modified muscle cells located just deep to the endocardium in the subendocardial connective tissue. conduct impulses of AV bundle. allow synchronization of ventricular cotraction Pale staining-few myofibrils. lots of glycogen abundant mitochondria

Answer 430

➢On neurons in the CNS ➢In organs innervated by parasympathetic nerves ➢On some tissues that are not innervated by these nerves, e.g., endothelial cells ➢On some tissues innervated by cholinergic postganglionic

Answer 431

Ipratropium Tropicamide

Answer 432

“clockface” nucleus‐peculiar distribution of chromatin

Answer 433

found in the basement membranes or on cell surfaces used for cell-cell recognition. contains sulfated glucuronic acid or iduronic acid.

Answer 434

leads to the upregulation of genes that are involved in many aspects of cell survival, glucose metabolism, angiogenesis, cancer progression, and invasion. HIF1a and HIF1B transcription factors must dimerize, then bind to a specific DNA sequence called the Hypoxia Response Element (HRE) 5’-TACGTG-3’ HRE is found upstream on many different genes to regulate their concerted expression

Answer 435

granule cells type II golgi cells

Answer 436

– Cause not defined – males and obesity (risk factors) – Renal disease – Lactic acidosis (urate competes with lactate for excretion)

Answer 437

Derived from monocytes ‐ migrate to connective tissue, differentiate to macrophages

Answer 438

processes long Pri-miRNAs to pre miRNAs hairpin structures (~70 nt)

Answer 439

Elastin Cofactor defect lysyl oxidase is deficient and less cross-linking and desmosine formation

Answer 440

Gap junctions Desmosomes

Answer 441

Fibrillin (glycoprotein) and elastin (protein)

Answer 442

* The largest group is the receptor tyrosine kinase family. * This class of receptors includes the * Insulin receptor * Epidermal growth factor receptor (EGFR)

Answer 443

Hereditary collagen defect Type III: vascular form, blood vessels Type V: classic form, hypermobility and hyperextensibility

Answer 444

progressive aggressiveness

Answer 445

what is a loading dose?

Answer 446

Some anticancer drugs bind to tubulin and prevent the polymerization of this molecule into microtubules. As a consequence cells are arrested in metaphase.

Answer 447

post-replicative repair mechanism mismatched bases are recognized and excised

Answer 448

Cerebral Cortex Tissue

Answer 449

Acetylcholine Methacholine Bethanechol

Answer 450

Exchange of genetic material between non-homologous chromosomes

Answer 451

folate analog used as an anticancer agent competitively inhibits dihydrofolate reductase slows down DNA replication (cell division) in mammalian cells

Answer 452

Tropomyosin Tropomodulin Troponin complex

Answer 453

sodium - dependent carrier (CHT1)

Answer 454

to achieve a target plasma level rapidly, this is used to load the Vd with the drug

Answer 455

felodipine metabolism

Answer 456

decreased RBC formation; there is reduced rates of DNA synthesis and cell division – leading to macrocytic, megaloblastic anemia

Answer 457

Mixed acting adrenergic agonist 1/4 ephedrine enantiomers. Induces Norepinephrine release, acts as a vasopressor: nasal decongestant.

Answer 458

mitochondria

Answer 459

binds to tropomyosin and anchors troponin complex

Answer 460

process by which a drug leaves the blood stream and enters the extracellular fluid and /or the cells of the tissues.

Answer 461

Inherited mutation in p53 * Rare disorder that increases the risk of cancer at a young age * Results in several kinds of cancer including breast, bone, brain, and soft-tissue carcinomas * 1 st hit is inherited from Mom * 2 nd hit is somatic (responsible for LOH)

Answer 462

FALSE! It is not applicable to drugs with non-linear elimination kinetics.

Answer 463

LacZ B-galactosidase: (lactose \> glucose +galactose) (lactose \> allolactose) LacY Permease (active transport of lactose across cell membrane) LacA Transacetylase (galactose \> acetylegalactose)

Answer 464

alpha 1 High dose: incr. bp Low dose: maintain bp beta 1 High dose: incr. bp Low dose: maintain bp incr. HR and force incr. renin release incr. lipolysis beta 2 Low dose: decr. bp dilates blood vessels of skeletal muscle relaxes bronchial smooth muscle incr. liver glycogenolysis incr. lipolysis Epinephrine used for: Anaphylaxis, acute asmatic attacks, cardiac arrest

Answer 465

Intravenous Intramuscular Subcutaneous Intradermal

Answer 466

Laminin (glycoprotein) in basement membrane

Answer 467

cause vasodilation, a fall in blood pressure (M3 effect) and bradycardia (M2 effect)

Answer 468

ORal Inhalation Nasal Inhalation Topical Transdermal

Answer 469

Decreased collagen (Vit. C)

Answer 470

it is X-linked Recessive!!! HGPRT complete deficiency leading to the inability to salvage hypoxanthine or guanine. Results in high PRPP, low IMP&GMP, and high de novo purine synthesis. excessive uric acid production leading to gout, self-mutilation, involuntary movements, mental retardation, orange crystals in baby diapers due to excess acid in urine.

Answer 471

Vascular smooth muscle, genitourinary smooth muscle, eye, vas deferens, liver incr. Gq activity vasoconstriction, contracts sphincters to incr. urinary retention, Myadriasis (pupil dilation), ejaculation, incr. glycogenolysys and gluconeogenesis

Answer 472

T-tubule membrane depolarized Ca²⁺ release from terminal cisterna Muscle contraction cycle initiated

Answer 473

reacts chemically with an agonist to form an inactive product Ex: protamine (positive charge coagulent) counteracts heparin (negative charge anticoagulent).

Answer 474

Higher incidence of neural tube defects in the fetus

Answer 475

p²+2pq+q² = 1

Answer 476

further processes them to single stranded RNA and initiates the formation of the RNA-induced silencing complex (RISC)

Answer 477

A. It is found in: 1. Vitreous humor of the eye. 2. Synovial fluid of the joints. 3. Cartilage. 4. Loose connective tissues. It facilitates cell migration in: 1. Embryogenesis (Neural tube closure). 2. Morphogenesis. 3. Wound repair.

Answer 478

competitively inhibits thymidylate synthase by being converted into dFUMP dUMP-\>dTMP Given with thymidine to increase toxicity in cancer cells. Incorporated into cancerous mRNA making it more toxic to cancer cells. Anticancer

Answer 479

Liver and kidneys

Answer 480

After staining with a metachromatic dye like toluidine blue, the mast cell granules stain with a color that is different from the color of the dye This phenomenon is determined by a change in the electronic structure of the dye molecule after binding to the granular material. In addition mast cell granules are PAS positive because of their glycoprotein nature.

Answer 481

xenobiotic receptors

Answer 482

1. Arrhythmia 2. Heart rate 3. Blood pressure

Answer 483

catechol-Omethyltransferase (COMT) and monoamine oxidase (MAO)

Answer 484

• Protects the CNS from imbalances in surrounding environment, as well as electrolytes, hormones, metabolite disturbances

Answer 485

Protoplasmic astrocytes Fibrous astrocytes Microglia

Answer 486

Acetylcholine

Answer 487

fall in blood pressure due to vasodilation (M3 effect) usually accompanied by reflex tachycardia.

Answer 488

➢Gastric secretions ➢Lacrimal glands

Answer 489

repressor protein binds to & interferes with the DNA-binding domain of an activator protein

Answer 490

Synthesizes and secretes single class of immunoglobulin

Answer 491

Epinephrine Norepinephrine Dopamine These have -OH groups at positions 3 and 4 of benzene ring

Answer 492

Aqueous diffusion (Paracellular) Lipid diffusion (transcellular) Special carriers Endocytosis & Exocytosis (Transcytosis)

Answer 493

Destruction of elastin in the lungs, less inhibition of neutrophil elastase Acquired by smoking or genetic. Genetic: lung and liver damage

Answer 494

Molecular layer Purkinje Layer Granular Layer

Answer 495

Transcription factors have DNA binding domains that only bind to certain DNA sequences

Answer 496

* Presynaptic membrane (of the motor nerve): Synaptic vesicles (SV) contain acetylcholine can be observed. * Synaptic cleft (SnC) where acetylcholine is released * Post synaptic membrane (of the muscle): Junctional folds (JF) with acetylcholine receptors * NMJ is covered by Schwann cell external lamina

Answer 497

1. Eosinophilic (red) granules in the cytoplasm 2. Condensed, bilobed nucleus 3. Phagocytosis of antibody – antigen complexes 4. Kills parasitic worms

Answer 498

Direct acting Cholinergic agonist Used to obtain miosis (pupil constriction) after cateract surgery

Answer 499

* APC interacts with β-catenin * Triggers phosphorylation of βcatenin * Ubiquitination and β-catenin degradation * Resulting in low β-catenin levels * APC acts like a ‘gatekeeper’

Answer 500

regulates myelin sheath thickness depending on axon diameter

Answer 501

Direct Indirect Mixed

Answer 502

Ion channels G-protein-linked receptors Enzyme-linked receptors Nuclear receptors Enzymes Transporters Structural proteins

Answer 503

Direct acting cholinergic agonist at low doses AND Nicotinic Cholinergic Antagonist at high doses Smoking cessation therapy

Answer 504

links dystrophin and laminin of the ECM

Answer 505

rod-shaped cytoskeletal protein links to ECM proteins laminin & agrin in the external lamina of the myocyte

Answer 506

Collagen Cofactor defect lysyl oxidase deficient (less cross-linking)

Answer 507

Thin filament on myofilaments capping protein which maintains & regulates length of the actin filaments

Answer 508

1. Cells (transient and permanent) 2. Extracellular matrix (ECM) a. Fibers b. Ground substance c. Tissue fluid

Answer 509

Muscarinic cholinergic antagonist Dilates eyes (mydriasis) Enters CNS.

Answer 510

* Clenched fist, overlapping of fingers * Rocker bottom feet * Congenital heart defects * Low-set ears, small lower jaw (micrognathia) * Microcephaly * Intellectual disability

Answer 511

* Congenital heart defects * Absence of thymus (thymic aplasia) – might cause Immunological problems * Cleft lip & palate; maybe speech difficulty * Learning disability * Facial anomalies include long midface, narrow palpebral fissures, prominent nasal root and bulbus nasal tip, ear dysmorphology • Increased risk for schizophrenia

Answer 512

a1 receptors

Answer 513

Deletion on chromosome 5p. 46,XX,del(5)(p15.3)(pter) or 46,XY,del(5)(p15.3)(pter)

Answer 514

* does NOT interact with β-catenin in absence of WNT signal * β-catenin is NOT phosphorylated and NOT degraded * β-catenin interacts with TCF-4 and activates GROWTH (in the absence of WNT signal)

Answer 515

Full agonists produce a maximal response. Partial agonists produce a submaximal response

Answer 516

means both twins have the same disease The greater the difference in concordance rate between MZ and DZ twins = the greater genetic input

Answer 517

Scurvy Deficient prolyl hydroxylase (instability) and lysyl hydroxylase (less O-glycosylaton)

Answer 518

another group of muscular dystrophy associated with ECM components

Answer 519

a: extracellular calcium b: action potential c: voltage-gated calcium channels

Answer 520

Encapsulated proprioceptor at myotendinous junction senses tension in muscle sensory component of golgitendon reflex

Answer 521

no no Yes. collagen and elastin (desmosine)

Answer 522

design dosage regimens which optimize the therapeutic response of a drug and minimize the chance of adverse reactions.

Answer 523

differentiation of B lymphocytes

Answer 524

* Caused by a mutation of the X-linked IKBKG gene * inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma * Mutation is lethal in males and is only survived in females that have skewed Xinactivation in favor of the normal IKBKG allele

Answer 525

hypertrophy of the muscle (pylorus) between stomach and intestines, causing it to narrow (stenosis) impeding gastric emptying - can cause severe vomiting in babies - palpation of the abdomen may reveal a mass in the epigastrium - may cause other problems such as dehydration and salt and fluid imbalances

Answer 526

* Effect of pH on drug absorption * Surface area available for absorption * Blood flow to absorption site * Contact time at absorption surface * P-Glycoprotein

Answer 527

extrachromosomal fragments of DNA containing an amplified oncogene ≈30% of breast cancers have HER-2 amplified as double minutes or hsrs

Answer 528

- generates several deleterious photoproducts such as cyclobutane pyrimidine dimers or 6-4 photoproducts - covalent linkages between bases on the same strand that interfere with normal pairing and block replication

Answer 529

- high energy particles or rays can cause many types of cellular damage up to and including death - also causes extensive damage to DNA (base damaging type) including heritable mutations