1. sequence of nucleotides (base pairs) that comprise DNA (sequence of base pairs that code for genes)
  2. sugar + phosphate + base
  3. outward expression of a gene
  4. nutrigenetics & example
    how genes affect utilization and response to diet; PKU, SNPs
  5. nutrigenomics and example
    how diet affects expression of genes; epigenetics (DNA methylation, histone modification, etc)
  6. SNP
    • Single nucleotide polymorphism
    • sequence variation in the DNA code; chg in a single base pair that results in a change in AA sequence
  7. alternative form of a gene
  8. study of a set of instructions that affects gene expression independent of chgs in nucleotide sequence
  9. analytical validity
    is the accurate in its measurement of the specific gene variant
  10. clinical validity
    does the test accurately and consistently detect or predict the outcomes of interest (ie presence or absence of phenotype or clinical disease)
  11. clinical utility
    does the test improve patient outcomes
  12. group of base pairs (SNPs) that travel together
  13. Level 1 of dysphagia & description
    • "dysphagia pureed"
    • mod to severe dysphagia, with poor oral phase ability; reduced ability to protect airway
  14. Level 2 of dysphagia & description
    • "dysphagia mechanically altered"
    • transition to more solid food; chewing ability required; mild to mod oral and/or pharygeal dysphagia
  15. Level 3 of dysphagia & description
    • "dysphagia advanced"
    • transition to regular diet; adequate dentition & mastication required; mild oral and/or pharyngeal dysphagia
  16. Tests used to assess swallowing function (5)
    • various bedside or simple swallowing tests
    • endoscopy
    • barium swallow (esophogram)
    • esophageal manometry
    • videofluoroscopy
  17. what are the initial screening methods for dysphagia (3)
    • history & physical
    • observation at meals
    • bedside screening
  18. causes of oral dysphagia (5)
    • neurodegenerative disorders
    • neuromuscular disorders
    • CVA
    • iatrogenic conditions: chemo, radiation therapy, surgery, meds
    • painful oral lesions
  19. signs and symptoms of oral dysphagia due to neurodegenerative disorders (Parkinson's, Alzheimer's, ALS, MS) (3)
    • drooling liquids
    • weakness of lips and tongue
    • pocketing of food in mouth
  20. signs and symptoms of oral dysphagia due to chemo or radiation therapy(2)
    • mucositis
    • xerostomia
  21. signs and symptoms of oral dysphagia due to surgery (1)
    difficulty forming/propelling bolus
  22. signs and symptoms of oral dysphagia due to other diseases, such as HIV/AIDS-candidiasis (2)
    • painful oral lesionsĀ 
    • xerostomia
  23. most common causes of pharyngeal dysphagia (3)
    • CVA
    • neurodegenerative disorders
    • neuromuscular disorders
  24. signs and symptoms of pharyngeal dysphagia (6)
    • coughing
    • choking
    • foods "stuck in throat"
    • nasal regurgitation
    • numerous swallows to clear throat
    • frequent pneumonia
  25. causes of esophogeal dysphagia (3)
    • 1. structural/mechanical abnormalities: ---esophageal cancer/benign tumor
    • -stricture
    • -esophageal web
    • -extrinsic compression
    • 2. neuromuscular: achalasia
    • 3. other: diabetic neuropathy
  26. potential consequences of dysphagia (10)
    • malnutrition
    • aspiration pneumonia
    • dyhydration
    • unitentional wt loss
    • depression
    • mortality
    • dec rehabilitation potential
    • dec quality of life
    • inc length of hospital stay
    • inc costs
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