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Phenylketonuria case
Phenylketonuria case

... PKU can be caused by an intron mutation that leads to aberrant splicing. (A) Normal primary transcript and mRNA. (B) Mutation of G to A in intron 12 results in the skipping of exon 12. Most mutations causing PKU occur in coding regions. ...
Primer-of-Drug-Action-12th-Edition-Julien-Test-Bank
Primer-of-Drug-Action-12th-Edition-Julien-Test-Bank

... In a given population, the dose-response curve for the dose of drug that produces the desired effect may overlap with the dose response curve for the lethal dose of the drug. For this reason, a more useful index of the margin of safety for a drug is the ratio of the: a. LD50 to ED50. b. ED50 to LD50 ...
EPB PHC 6000 EPIDEMIOLOGY FALL, 1997
EPB PHC 6000 EPIDEMIOLOGY FALL, 1997

... 1) Examine links between genetic markers and specific disorders or traits. 2) Genetic markers are a measurable human trait controlled by a single gene with known chromosomal location. Must be polymorphic with at least two alleles having a gene frequency of at least 1 percent. ...
Neonatal Abstinence Syndrome (NAS)
Neonatal Abstinence Syndrome (NAS)

... • Designed for term babies on four-hourly feeds and may therefore need modification for preterm infants. • The NAS score sheet lists 21 symptoms that are most frequently observed in opiate-exposed infants. • Each symptom and its associated degree of severity are assigned a score. ...
DRUGS THAT AFFECT CARDIOVASCULAR FUNCTIONS
DRUGS THAT AFFECT CARDIOVASCULAR FUNCTIONS

... Pharmacological actions of specific adrenergic blocking drugs on the CVS • Prazosin, blocks postsynaptic α1- adrenoceptors but not the presynaptic α2 adrenoceptors. • Therefore, α2 adrenoceptor is spared so that negative feedback inhibition of noradrenaline release is maintained resulting in antihy ...
Schrodinger Workshop
Schrodinger Workshop

... Description: In this workshop, attendees will explore useful techniques to predict a structure for FactorXa, using 2 known templates, bovine factor Xa and human thrombin. This exercise explores the full use of PrimeHomology Modeling interface, and options for aligning and editing sequences are shown ...
chapter13_Sections 4-6
chapter13_Sections 4-6

... • Insights From Dihybrid Crosses • Pairs of genes on different chromosomes are typically distributed into gametes independently of how other gene pairs are distributed • Breeding experiments with alternative forms of two unrelated traits can be used as evidence of such independent assortment ...
nclex study information
nclex study information

... Seasonal Affective Disorder (SAD) may affect over 10 million Americans. The typical symptoms of SAD include depression, lack of energy, increased need for sleep, a craving for sweets and weight gain. Symptoms begin in the fall, peak in the winter and usually resolve in the spring. Some individuals e ...
Critical concepts include: pedigrees, autosomal dominant traits
Critical concepts include: pedigrees, autosomal dominant traits

... 1. An individual with two alleles for the disorder develops fatty deposits in the skin and tendons and may have a heart attack as a child. 2. An individual with one normal allele and one FH allele may suffer a heart attack as a young adult. 3. An individual with two normal alleles does not have the ...
Premature Ejaculation
Premature Ejaculation

... Acknowledgements and Disclaimers: AUA Guideline on the Management of Premature Ejaculation (PE) This document was written by the Erectile Dysfunction Guideline Update Panel of the American Urological Association Education and Research, Inc., which was created in 1999. The Practice Guidelines Commit ...
From Genes to Phenotypes
From Genes to Phenotypes

Guidelines for Opioids EN
Guidelines for Opioids EN

... Subcutaneous dose is usually ½ p.o. dose. When converting from one opioid to another, it is often possible to reduce the calculated equivalent dose by 33%. This is because of incomplete cross-tolerance. When opioids are changed due to toxicity (‘opioid rotation”), the calculated equivalent dose may ...
drugs that affect cardiovascular system
drugs that affect cardiovascular system

... Pharmacological actions of specific adrenergic blocking drugs on the CVS • Prazosin, blocks postsynaptic α1- adrenoceptors but not the presynaptic α2 adrenoceptors. • Therefore, α2 adrenoceptor is spared so that negative feedback inhibition of noradrenaline release is maintained resulting in antihy ...
psychiatric medication use during pregnancy
psychiatric medication use during pregnancy

... Psychotropic medication use during pregnancy may have adverse effects, however, there is a growing body of evidence that some medications may be acceptable for use during pregnancy. As with any medication, risks and benefits must be considered for each individual. This resource provides useful infor ...
2. job purpose - NHS Scotland Recruitment
2. job purpose - NHS Scotland Recruitment

... The delivery of pharmaceutical care to patients is being systematically developed through the modernisation processes detailed in national strategy documents for pharmacy. As such, clinical pharmacists and technicians will be involved in reviewing patients’ treatment on wards as part of the admissio ...
Opiate Detox Guidelines
Opiate Detox Guidelines

... 55, lofexidine should be withheld until normal measurements are obtained. Service users with a systolic BP below 90 mmHg can cautiously reintroduce up to a maximum of 3 tablets bd or lower if they have dizziness at this dose. If in doubt consult the BAS medic. Duration of treatment is 7- 10 days and ...
Chapter 16 Cholinesterase Inhibitors
Chapter 16 Cholinesterase Inhibitors

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15 Design and Data Analysis of Drug Interaction Studies

BIO41 CH23.pptx
BIO41 CH23.pptx

... locus is the total number of individuals times 2 v  The total number of dominant alleles at a locus is 2 alleles for each homozygous dominant individual plus 1 allele for each heterozygous individual v  The total number of recessive alleles at a locus is 2 alleles for each homozygous recessive ind ...
`wet` age-related macular degeneration pre NICE inclusion criteria
`wet` age-related macular degeneration pre NICE inclusion criteria

... The potential risks are outlined below and will be discussed with you by your eye doctor. As with any medicine side effects are possible with Avastin. However, not everyone who takes the drug will experience side effects and overall the risks from treatment are very low. Complications of Avastin in ...
The Investigation of the Mupirocin effect on Epistaxis treatment in
The Investigation of the Mupirocin effect on Epistaxis treatment in

... drugs was tangible and the reason that they were ineffective in monthly bleeding can be attributed to the short-term of study. Although the comparison between the two drugs was not significant but much less pvin the mupirocin demonstrated the effectiveness of this drug is greater than vitamin A. Per ...
Reading Guide_12_EB_Population Dynamics_Human_II
Reading Guide_12_EB_Population Dynamics_Human_II

... 45. For your information: The allele for cystic fibrosis carries a mutation in a membrane transport channel (it transports chloride ions Cl-). This is a nonsense mutation that places a stop codon in the middle of the gene, causing its protein product to be nonfunctional. Luckily, a person who has at ...
Product Monograph Template - Standard
Product Monograph Template - Standard

... of such drugs as phenothiazines and other tranquilizers, sedative/hypnotics, tricyclic antidepressants or general anesthetics. These patients should be monitored for signs of hypotension after initiating or titrating the dose of MS•IR. The use of MS•IR in patients with circulatory shock should be av ...
Slide 1
Slide 1

...  Dogs are one of man’s longest genetics experiments – Dog breeds are the result of artificial selection – Populations of dogs became isolated from each other – Humans chose dogs with specific traits for breeding ...
168767_DrMaddin - Skin Therapy Letter
168767_DrMaddin - Skin Therapy Letter

... Jan D. Bos, University of Amsterdam, Amsterdam; Enno Christophers, Universitäts-Hautklinik, Kiel; Hugo Degreef, Catholic University, Leuven; Richard L. Dobson, Medical University of South Carolina, Charleston; Boni E. Elewski, Case Western Reserve University, Cleveland; Barbara A. Gilchrest, Boston ...
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Pharmacogenomics

Pharmacogenomics (a portmanteau of pharmacology and genomics) is the study of the role of genetics in drug response. It deals with the influence of acquired and inherited genetic variation on drug response in patients by correlating gene expression or single-nucleotide polymorphisms with drug absorption, distribution, metabolism and elimination, as well as drug receptor target effects. The term pharmacogenomics is often used interchangeably with pharmacogenetics. Although both terms relate to drug response based on genetic influences, pharmacogenetics focuses on single drug-gene interactions, while pharmacogenomics encompasses a more genome-wide association approach, incorporating genomics and epigenetics while dealing with the effects of multiple genes on drug response.Pharmacogenomics aims to develop rational means to optimize drug therapy, with respect to the patients' genotype, to ensure maximum efficacy with minimal adverse effects. Through the utilization of pharmacogenomics, it is hoped that drug treatments can deviate from what is dubbed as the “one-dose-fits-all” approach. It attempts to eliminate the trial-and-error method of prescribing, allowing physicians to take into consideration their patient’s genes, the functionality of these genes, and how this may affect the efficacy of the patient’s current and/or future treatments (and where applicable, provide an explanation for the failure of past treatments). Such approaches promise the advent of ""personalized medicine""; in which drugs and drug combinations are optimized for each individual's unique genetic makeup. Whether used to explain a patient’s response or lack thereof to a treatment, or act as a predictive tool, it hopes to achieve better treatment outcomes, greater efficacy, minimization of the occurrence of drug toxicities and adverse drug reactions (ADRs). For patients who have lack of therapeutic response to a treatment, alternative therapies can be prescribed that would best suit their requirements. In order to provide pharmacogenomic-based recommendations for a given drug, two possible types of input can be used: genotyping or exome or whole genome sequencing. Sequencing provides many more data points, including detection of mutations that prematurely terminate the synthesized protein (early stop codon).
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