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KDIGO Controversies Conference on Gitelman Syndrome
KDIGO Controversies Conference on Gitelman Syndrome

... single mutation in SLC12A3, instead of being compound heterozygous or homozygous.  Because GS is recessively inherited, it is likely that there is a failure to identify the  second mutation in regulatory fragments, 5’ or 3’ untranslated regions, or deeper  intronic sequences of SLC12A3, or that ther ...
Monohybrid Cross Worksheet
Monohybrid Cross Worksheet

... The allele for hitchhiker’s thumb (h) is recessive to straight thumb (H). If a man and his wife are both homozygous recessive, will any of their offspring potentially have hitchhikers thumb? a. What is the man’s genotype and the woman’s genotype? b. What is the man’s phenotype and the woman’s phenot ...
Autosomal Recessive Nephrogenic Diabetes Insipidus Caused by
Autosomal Recessive Nephrogenic Diabetes Insipidus Caused by

... of the human Aquaporin-2 gene enabled us to test this gene as a candidate for such a postreceptor defect. Direct sequencing of the ...
Resistant Hypertension - STA HealthCare Communications
Resistant Hypertension - STA HealthCare Communications

... • Adding an α-blocker, or • Adding spironolactone. Recent studies have suggested that the prevalence of hyperaldosteronism in patients with resistant HTN is about 20%. The aldosterone antagonist spironolactone in a dose of 12.5 mg to 50 mg q.d. has been shown to lower BP on average by 25 mmHg systol ...
Microsoft Word format
Microsoft Word format

... glycol as a vehicle, a chemical analogue of antifreeze, over 100 people died, many of who were children. When that was not enough to protect public health, Congress passed another Act in 1962 (the Kefauver-Harris Drug Amendments) which added the requirement that drugs must also be effective. Then in ...
Opioid Overdose Prevention - South Boston Hope & Recovery
Opioid Overdose Prevention - South Boston Hope & Recovery

... opioid overdose, for example heroin or morphine overdose. Naloxone is specifically used to counteract life-threatening depression of the central nervous system and respiratory system. It is marketed under various trademarks including Narcan, Nalone, and Narcanti. ...
Complex Inheritance Patterns
Complex Inheritance Patterns

... . Dickinson, Boonsri. "Eye Color Explained: Why everything you know is wrong." Discover 13 Mar 2007 14 Apr 2008 . "Golden Retriever." Canine Genetic DNA Test. HealthGene Mol ...
COURSE TITLE - Metropolitan Community College
COURSE TITLE - Metropolitan Community College

... COURSE PREFIX AND NO. DENT 1160 ...
Learn more about Research at UK MS Center
Learn more about Research at UK MS Center

... will be tested in this study. This study will try to answer two (2) questions: Is treatment with interferon-1b 500 micrograms safe, tolerable and more effective than treatment with interferon-1b 250 micrograms? There is evidence from other studies that interferon-1b is more efficacious when increasi ...
Intrapleural and Intraperitoneal Free Fluid in Calcium Channel
Intrapleural and Intraperitoneal Free Fluid in Calcium Channel

... non-cardiogenic pulmonary edema and intestinal ischemia may occur (1, 3, 9). In our case series, there was just one complete AV block. Hypotension may occur because of peripheral vasodilation, decreased cardiac contractility, bradycardia, or a combination thereof. Although hypotension occurs in the ...
Joint Statement on the U.S. Food and Drug Administration`s
Joint Statement on the U.S. Food and Drug Administration`s

... and TES, and ATA by agreeing to hold a workshop in order to do so. 2. The FDA has failed to satisfactorily address questions relating to the bioequivalence of thyroxine preparations. Despite a written commitment to address the concerns of AACE, and TES, and ATA as organizations that represent those ...
Preconceptional or Prenatal Genetic Testing of a Parent
Preconceptional or Prenatal Genetic Testing of a Parent

... Nieman Pick Disease Type A Fanconi anemia group C Bloom syndrome Gaucher's disease Other inherited disorders (please specify): ____________ Other (please specify): ____________ Criteria for Specific Genetic Test Request is for specific genetic testing in parent or prospective parents for whom: (Chec ...
Metabolism - Wayne State University
Metabolism - Wayne State University

... Lipid soluble, and distribute to the brain after absorption from the GI tract. All cross the placental barrier during pregnancy. If given during the pre-delivery period, may depress neonatal vital functions. Also are detectable in breast milk and may exert depressant effects in the nursing infant. E ...
Serotonin Syndrome - Clinician`s Brief
Serotonin Syndrome - Clinician`s Brief

... ■ SS is caused by any substance or mechanism that increases serotonin levels in the CNS. ■ To date, four major mechanisms by which these agents increase serotonin in the CNS have been identified: ❏ Serotonin metabolism inhibited (eg, ...
Tricyclic Antidepressants
Tricyclic Antidepressants

... limited to mood changes, insomnia or hypersomnia, and diminished interest in daily activities. The symptoms are not caused by any medical condition, drug side effect, or adverse life event. The condition is severe enough to cause clinically significant distress or impairment in social, occupational, ...
Genetics of Hemophilia - The Hemophilia Report
Genetics of Hemophilia - The Hemophilia Report

... can develop anaphylaxis to replacement factor, a lifethreatening, difficult-to-manage clinical situation. » Eight patients with hemophilia B who had experienced anaphylaxis to FIX were genotyped and compared to patients with severe disease; those who had complete gene deletions were at the highest r ...
Drug Therapy of Urinary Tract Infections
Drug Therapy of Urinary Tract Infections

...  Adverse effect  Fluid retention (retention of Na and H20) will see peripheral edema  Cardiac Dysrhythmia (caution in HF due to fluid retention) – tachycardia Afib, Aflutter, most likely related to plasma volume increase  It can cause plasma volume to increase, which causes hgt, hct to decrease ...
acetaminophen and codeine phosphate tablets usp
acetaminophen and codeine phosphate tablets usp

... Caution patients that some people have a variation in a liver enzyme and change codeine into morphine more rapidly and completely than other people. These people are ultra-rapid metabolizers and are more likely to have higher-than-normal levels of morphine in their blood after taking codeine which c ...
Preanesthetic Patient Assessment
Preanesthetic Patient Assessment

... articaine, minimize dose if it must be used • Use other anesthetics if available ...
The prevalence of potentially inappropriate prescribing in
The prevalence of potentially inappropriate prescribing in

... The Tool The Screening Tool of Older Persons’ Potentially Inappropriate Prescriptions (STOPP) classifies common drug issues found to contribute to potentially inappropriate prescribing (PIP) to highlight PIMs in the elderly • 65 rules relating to the most common and the most potentially dangerous i ...
alprostadil
alprostadil

... Peripheral Female Genital Arousal as Assessed by Thermography Following Topical Genital Application of Alprostadil vs Placebo Arousal Gel: A Proof-of-Principle Study Without Visual Sexual Stimulation. INTRODUCTION: Female sexual arousal disorder is a pathophysiologic state characterized clinically b ...
Advanced Mendelian Genetics
Advanced Mendelian Genetics

... have multiple alleles. • A rabbit’s coat color is determined by a single gene that has at least four different alleles. • Human eye color works in this way. ...
Biologics for the respiratory physician - SGUL
Biologics for the respiratory physician - SGUL

... • The pharmacodynamics of most biologics is incompletely understood; for example, etanercept is ineffective in Crohn’s disease, whereas other antitumor necrosis factor (TNF) drugs are highly potent. • Induction of immune tolerance may be achievable in the early stages of autoimmunity • Biologic ther ...
Statistical Genetics
Statistical Genetics

... Follow subjects over time for development of disease and/or risk factors – no selection and recall bias – reliable pre-disease exposure information – a full range of diseases and traits – many years of follow-up ...
Deducing Genotypes - Life is a journey: Mr. T finding his way
Deducing Genotypes - Life is a journey: Mr. T finding his way

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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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