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bkheath
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sequence of nucleotides (base pairs) that comprise DNA (sequence of base pairs that code for genes)
genotype
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sugar + phosphate + base
nucleotide
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outward expression of a gene
phenotype
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nutrigenetics & example
how genes affect utilization and response to diet; PKU, SNPs
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nutrigenomics and example
how diet affects expression of genes; epigenetics (DNA methylation, histone modification, etc)
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SNP
- Single nucleotide polymorphism
- sequence variation in the DNA code; chg in a single base pair that results in a change in AA sequence
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alternative form of a gene
allele
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study of a set of instructions that affects gene expression independent of chgs in nucleotide sequence
epigenetics
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analytical validity
is the accurate in its measurement of the specific gene variant
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clinical validity
does the test accurately and consistently detect or predict the outcomes of interest (ie presence or absence of phenotype or clinical disease)
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clinical utility
does the test improve patient outcomes
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group of base pairs (SNPs) that travel together
haplotype
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Level 1 of dysphagia & description
- "dysphagia pureed"
- mod to severe dysphagia, with poor oral phase ability; reduced ability to protect airway
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Level 2 of dysphagia & description
- "dysphagia mechanically altered"
- transition to more solid food; chewing ability required; mild to mod oral and/or pharygeal dysphagia
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Level 3 of dysphagia & description
- "dysphagia advanced"
- transition to regular diet; adequate dentition & mastication required; mild oral and/or pharyngeal dysphagia
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Tests used to assess swallowing function (5)
- various bedside or simple swallowing tests
- endoscopy
- barium swallow (esophogram)
- esophageal manometry
- videofluoroscopy
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what are the initial screening methods for dysphagia (3)
- history & physical
- observation at meals
- bedside screening
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causes of oral dysphagia (5)
- neurodegenerative disorders
- neuromuscular disorders
- CVA
- iatrogenic conditions: chemo, radiation therapy, surgery, meds
- painful oral lesions
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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
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signs and symptoms of oral dysphagia due to chemo or radiation therapy(2)
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signs and symptoms of oral dysphagia due to surgery (1)
difficulty forming/propelling bolus
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signs and symptoms of oral dysphagia due to other diseases, such as HIV/AIDS-candidiasis (2)
- painful oral lesions
- xerostomia
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most common causes of pharyngeal dysphagia (3)
- CVA
- neurodegenerative disorders
- neuromuscular disorders
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signs and symptoms of pharyngeal dysphagia (6)
- coughing
- choking
- foods "stuck in throat"
- nasal regurgitation
- numerous swallows to clear throat
- frequent pneumonia
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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
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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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