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General Principle 2
UWORLD + FA review
| Question | Answer |
|---|---|
| Locus Heterogeneity | ability of 1 disease or trait to be caused by mutations in multiple different genes |
| Polyploidy? | occurs at times of more than 2 complete sets of homologous chromosomes exits within on organism or cell |
| What is cytochrome c? | it is mitochondrial enzyme that activates caspases and indirectly brings out the cell death through the intrinsic pathway of apoptosis |
| Cytochrome activates caspases via teh ___________________pathway ______________. | Intrinsic Pathway Apoptosis |
| The initiation phase of apoptosis is divided into what? | Intrinsic and Extrinsic Pathway apoptosis |
| Caspase activation in apoptosis is done during the_________________ phase. | Initiation |
| Medical Interview | Open-ended questions are the most effective way to initiate interview |
| Northern Blotting | Detects RNA |
| Southern blotting | Detects DNA |
| Western blotting | Proteins are detected |
| Southwestern blotting | DNA-binding protein |
| Ras | proto-oncogene that codes for a membrane-bound G-protein |
| Imprinting | Phenomenon in which an offspring's genes are expressed in a parent-specific manner |
| SAM | common methyl group donor |
| Carrier mediated transport | Includes: 1. Facilitated diffusion 2. Active trasnport |
| Piridoxine | Vitamin B6 |
| What is a Transamination reaction? | occurs between an amino acid and alpha-keto acids. |
| What are some common alpha-keto acids? | 1. Pyruvic acid 2. Oxaloacetic acid, component of TCA cycle 3. Alpha-ketoglutarate |
| Isoniazid | INH |
| The "fast" or "slow" metabolism of INH causes: | A bimodal distribution graph |
| Volume of distribution (Vd) | Hypothetical volume of fluid into which the administer amount of drug would need to uniformly distributed to produced the observed plasma concentration. |
| Vd levels: | Low 3-5 liters |
| A low Vd: | 3-5 liters |
| A Vd of 14-16 L would suggest: | Drug with a small molecular weight but hydrophilic |
| What is suggested a Vd of 41 L? | Drug is small molecular weight and uncharged (lipophilic or hydrophobic) |
| CYP450 enzymes: | Found in liver and responsible for majority of drug metabolism |
| Polymorphisms: | occuring in genes coding for CYP450 enzymes result in various phenotypes that differs in rates of metabolism |
| Increase levels of IL-1, IL-6 and TNF-a lead to: | Increase release levels of acute-phase reactants |
| Acute phase reactants: | Increase their release by increased levels of pro-inflammatory cytokines |
| Bioavailability: | Fraction of administered drug that reaches the systemic circulation |
| What type of administration decrease the bioavailability? | Oral drugs, due been subjected to First-pass metabolism |
| Rectal drug administration | Increased bioavailability |
| Locus Heterogeneity | Familial Hypercholesterolemia |
| Polyploidy? | Hydatidiform male (69 XXX, 69 XXY, 69XYY) |
| Medical Interview | Allow patient to describe the conditions, in their own words. |
| Northern Blotting | single stranded RNA probe |
| Southern blotting | ss-DNA probe |
| Western blotting | Antibody used as probe |
| Southwestern blotting | ds-DNA probe |
| Ras | Activates the MAP kinase pathway and ultimately affects transcription |
| Ras | Does not bind to DNA |
| Imprinting | DNA methylation |
| Imprinting | Methylation of DNA causes "imprinting"/"silencing"/"inactivation" of gene |
| SAM | S-adenosylmethionine |
| Carrier mediated transport | Movement across the membrane depends on carrier proteins in the membrane |
| Carrier mediated transport | Can become SATURATED |
| Vitamin B6 is a | cofactor in amino acid Transamination and Decarboxylation reactions |
| Isoniazid | metabolized by ACETYLATION |
| Isoniazid | Its metabolism depends on the person's ability to metabolize fast or slow |
| Which kind of people have increased risk of INH toxicity? | "Slow" acetylators have increased risk of adverse side effects |
| Volume of distribution (Vd) | (amount of drug given (mg))/ plasma concentration of drug (mg/L)) |
| Vd levels: | High 41 L |
| A low Vd: | Drug: - Large molecular weight - Bound extensively to plasma proteins, or, -Highly charged (hydrophilic) |
| A low Vd: | Remains in plasma compartment (approx 3L) |
| A Vd of 14-16 L would suggest: | Drug distributes into interstitial fluid compartment and intravascular compartment |
| What is suggested a Vd of 41 L? | Highly bound to tissues. |
| What common breast cancer drug is metabolized by the CYP450 system? | Tamoxifen |
| Acute phase reactants: | Increased levels leads to INCREASED ESR, leading to quick RBC sedimentation |
| Acute phase reactants: | C-reactive protein, fibrinogen |
| Rectal administration only bypasses first-pass metabolism if it is: | Region below the dentate line, drains directly to systemic circulation. |
| What ion is responsible for the synchronization of skeletal muscle contraction? | Sarcoplasmic calcium |
| Increased intracellular calcium causes in Skeletal muscle: | 1. Activation of PHOSPHORYLASE KINASE ---> stimulating glycogen phosphorylase to increase GLUCONEOGENESIS |
| What is the effect of increased intracellular ATP in skeletal muscle during contraction? | decrease the rate of glycogenolysis upon cessation of active muscle contraction. |
| Silent mutation | base substitution codes for same amino acid |
| Missense mutation | base substitution codes for different amino acid |
| Conservative mutation | base substitution codes for different amino acid with similar chemical structure |
| Nonsense mutation | base substitution introduces premature stop codon |
| What are the 3 stop codons? | 1. UAA (U Are Away) 2. UAG (U Are Gone) 3. UGA (U Go Away) |
| Nonstop mutation | base substitution within a stop codon resulting in continued translation |
| Infinite translation of an amino acid is due to a ___________ mutation. | Nonstop |
| Splice site mutation | Mutation at the splice site alters intron removal form pre-mRNA |
| What kind of DNA mutation leads to inappropriate intron removal? | Slice site mutation |
| Frameshift mutation | Deletion/insertion of bases non-divisible by 3, causes downstream misreading. |
| What are the main 3 common findings of Down syndrome? | Cognitive impairment, Facial deformity, and cardiac defects |
| What are the 3 main causes of Down syndrome? | 1. MC --> MEIOTIC NONDISJUNCTION (95% of cases) 2. Robesonian (unbalanced) translocations 3. Mosaicism |
| Extra copy of chromosome 21 present in every cell | Down syndrome due to Meiotic nondisjunction |
| What is a risk factor for the MCC of Down syndrome? | Advanced maternal age |
| Unbalanced translocation of chromosome 21 | All or part of additional chromosome 21 is ATTACHED to another chromosome |
| Some (not all) cells have extra chromosome 21; nondisjunction event early in embryonic life. Describes? | Down syndrome caused by Mosaicism |
| Parallel resistance: | Used to measure systemic resistance (whole body) |
| Series resistance: | Used to measure resistance in a specific organ |
| R1+R2+R3 = Total Resistance | Series resistance |
| 1/R1 + 1/R2 + 1/R3 = 1/TPR | Parallel resistance |
| What is Beer's Criteria used for? | Identify drugs that are to be used carefully in the elderly population |
| What are some drugs included in the Beer's criteria? | 1. Anticholinergic: - 1st generation antihistamines (diphenhydramine) 2. CV: - Alpha-1 blockers, Centrally-acting alpha-2 agonists, and many antiarrhythmics 3. CNS: - TCAs, Antipsychotics, Barbiturates, Benzodiazepines 4. Endocrine: - Long-acting sulfonylureas and sliding scale insulin 5. Pain: - NSAIDs and Skeletal muscle relaxants |
| What is a common 1st-generation anti-histamine? | Diphenhydramine |
| What receptors are blocked by 1st generation antihistamines? | Muscarinic receptors |
| Mydriasis is caused due to: | Paralysis of ciliary muscle and iris sphincter |
| What are the 3 fates of Pyruvate? | 1. Acetyl-CoA by Pyruvate dehydrogenase (AEROBIC) 2. Lactic Acid by Lactate dehydrogenase (ANAEROBIC) 3. Oxaloacetate (involved in gluconeogenesis) |
| MtDNA | Most common non-nuclear DNA found in Eukaryotic cells |
| Mitochondrial DNA resembles ________________________. | prokaryotic DNA and is maternally derived |
| Leg lymphatics: | Medial foot: Bypass the popliteal nodes and goes straight up to the Superficial inguinal nodes Lateral foot: Lateral foot --> Popliteal nodes --> Deep inguinal nodes. |
| Superoxide Dismutase: | anti-oxidant; neutralizes ROS, thus, preventing cell injury |
| Half-life | measure of how quickly a drug with first-order kinetics is eliminated from the body |
| What is the abbreviation for have life? | t 1/2 |
| Half-life = | (0.7 x Vd) = ---------------- Clearance (CL) |
| Half live: 1 ---> 2 ---> 3 ---> 4 ---> 5 ---> | Amount eliminated (%) 50% 75% 87.5 % 93.75% 96.875% |
| DNA pol I in PROKARYOTES has 3 functions: | 1. - 5' to 3' polymerase activity 2. - 3' to 5' exonuclease activity 3. - 5' to 3' exonuclease activity |
| What is the key or unique function (characteristic) of bacterial DNA pol I? | 5' to 3' exonuclease activity |
| What is the function of DNA pol I 5' to 3' exonuclease activity? | remove the RNA primer created by RNA primase and repair damage DNA sequences. |
| What are the main categories of DNA-binding proteins? | 1. Transcription factors ( Myc, CREB) 2. Steroid receptors (Cortisol, Aldosterone, Progesterone) 3. Thyroid hormone receptor 4. Fat-soluble vitamins (Vitamin D, retinoic acid) 5. DNA transcription and replication proteins |
| Multifactorial inheritance | complex interaction between numerous genetic and environmental factors to determine phenotypic expression |
| The phrase " the closer the relative, the higher the chances of inheriting the condition" is descriptive of what mode of inheritance? | Multifactorial Inheritance |
| What are some common conditions of Multifactorial inheritance? | Spina bifida, Cleft lip and palate DM, CAD and HTN |
| Which are the POORLY-vascularized peripheral compartments? | Skeletal muscle, bone and fat |
| Delayed drug distribution is seen in: | Poorly vascularized peripheral compartments; Most common are skeletal muscle, bone, and fat. |
| Initial rapid distribution is seen with: | Well ventilated peripheral compartment organs, such as Brain, Liver, Kidney, Lungs and Heart. |
| Lipophilic drugs: | 1. Distributed fast and quickly in well-vascularized organs, but 2. highest distribution is in poorly-vascularized organs |
| Transcriptional enhancers and silencers localization: | May be upstream, downstream, or within a transcribed gene |
| Transcriptional enhances ---> | Increase rate of transcription |
| Transcriptional silencers --> | Decrease rate of transcription |
| The enhancer sequence: | - bind ACTIVATOR proteins that facilitate bending of DNA |
| What is the effect on DNA bending due to enhancer attachment to an activator protein? | Allow for activator proteins to interact with general transcription factors and RNA pol II at the PROMOTER |
| What are the Eukaryotic promoters and their localization? | 1. TATA, or Hogness box ------ 25 bases UPSTREAM 2. CAAT box ------ 75-80 bases UPSTREAM |
| What are the Prokaryotic promoters and their localization? | 1. Pribnow box --- -10 bases upstream 2. 35 element ---- 35 bases ustream (presence indicates very high transcription rate) |
| Promoter | Always located upstream from their associated genes, and functions to initiate transcription |
| Shine-Dalgarno sequence | ribosomal binding site in bacterial mRNA - Located 8 bases upstream for the start codon AUG - Helps to recruit ribosome to the mRNA to initiate protein synthesis |
| 8 bases upstream from start codon AUG | Shine-Dalgarno sequence |
| What start codon is associated with the Shine-Dalgarno sequence? | AUG |
| What is the probability of being a carrier if: Unaffected individual from unaffected parents has a affected sibling of an autosomal recessive disorder? | 2/3 |
| What is pleiotropy? | Describes were multiple phenotypic manifestations result from a single genetic mutation. |
| What are some common DNA-binding proteins? | c-Jun and c-Fos |
Created by:
rakomi
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