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Ocular Anomalies - European CHS Network
Ocular Anomalies - European CHS Network

... INSERM U 393, University of Paris 5 René Descartes, Paris, France; 5Center of reference of CCHS, Robert Debré Hospital, AP-HP, University Paris 7, Paris, France Background and Purpose: Congenital Central Hypoventilation Syndrome (CCHS), ultra rare disease, ocular signs, first described by Goldberg, ...
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http://sciencecases.lib.buffalo.edu/cs/files/pharmacogenetics.pdf
http://sciencecases.lib.buffalo.edu/cs/files/pharmacogenetics.pdf

... It’s called the children’s ward. For two teenagers who have been recently diagnosed with leukemia, it seems insulting to have their lives hijacked by doctors and nurses with stuffed animals clipped to their stethoscopes. Laura is a forward on her school soccer team and leads the league in scoring. F ...
Nós médicos seguimos o lema: “Deixar de aprender é omitir socorro”
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Clinical Rx Forum Volume 3 Issue 2
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Questions to Ask Your Doctor: Genes and Inherited Breast Cancer
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NUR 104 - Introduction to Pharmacology
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8.1 Natural Selection
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Branchiootorenal (BOR/BOS) Spectrum Disorder Panel
Branchiootorenal (BOR/BOS) Spectrum Disorder Panel

... of individuals with BOR/BOS have an identified mutation in EYA1. Approximately 10% of individuals with BOR/BOS will have a chromosomal rearrangement in the region of the EYA1 gene, which will not be detected by our test methodology. FISH and deletion duplication analysis may be indicated in the pres ...
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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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