Foundations 2024/2025 Exam Questions Marking
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What are some physical changes from Alzheimer's dementia? - ANSWER- - Brain
shrinks dramatically; nerve cell death and tissue loss
- Cardinal signs: plaques (abnormal clusters of protein fragments) and tangles (twisted
strands of another protein)
How is Alzheimer's treated? - ANSWER- - There is no cure, but there are
pharmacological and non-pharmacological treatments
- Cholinesterase inhibitors
- Memantine (namenda)
What are cholinesterase inhibitors prescribed for? - ANSWER- - To treat symptoms
related to memory, thinking, language, judgment, and other processes
- Helps delay or slow the worsening of symptoms
What does cholinesterase inhibitors do? - ANSWER- - Prevent the breakdown of
acetylcholine, a chemical messenger that is important for learning and memory
- Supports communication among nerve cells by keeping the acetylcholine high
What are some commonly prescribed cholinesterase inhibitors? - ANSWER- -
Donepezil (aricept)
- Galantamine (razadyne)
- Rivastigmine (exeleon)
Which cholinesterase inhibitor can be used for all stages of Alzheimer's? - ANSWER- -
Donepezil (aricept)
Which cholinesterase inhibitor can be used for mild-to-moderate stages of Alzheimer's?
- ANSWER- - Galantamine (razadyne)
- Rivastigmine (exeleon)
Which cholinesterase inhibitor can be used for mild-to-moderate Alzheimer's and
Parkinson's? - ANSWER- - Rivastigmine (exeleon)
What medication combination is used to treat moderate-to-severe Alzheimer's? -
ANSWER- - Memantine (namenda) and donepezil (aricept)
,What is memantine (namenda) used for? - ANSWER- - Prescribed to improve memory,
attention, reason, language, and the ability to perform simple tasks
- Can be used alone or with other Alzheimer's disease treatments
How does memantine (namenda) work? - ANSWER- - Regulates the activity of
glutamate, a chemical involved in information processing, storage, and retrieval
- Improves mental functioning and ability to perform daily activities for some people
What is the difference in MOA between cholinesterase inhibitors and memantine
(namenda)? - ANSWER- - Cholinesterase inhibitors prevent the breakdown of
acetylcholine, whereas memantine (namenda) regulates the activity of glutamate
What is ataxia? - ANSWER- - Also known as cerebellum attacks
- Degenerative disease of the nervous system
- Many symptoms mimic those of being drunk (i.e. slurred speech, stumbling, falling,
and incoordination)
What causes the symptoms of ataxia? - ANSWER- - The damage caused to the
cerebellum, the part of the brain that is responsible for coordinating movements
- Can also be caused by damage to part of the spinal cord and nerves
What is the treatment for ataxia? - ANSWER- - No treatment
- In some cases, treating the underlying causes (i.e. stopping medications that cause
ataxia)
- In other cases, it is a result from chicken pox or other viral infections (likely to resolve
on its own)
- Genetic causes/predisposed disposition is usually chronic
What causes ataxia in the pediatric population? - ANSWER- - Genetic predisposition
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
- Prader-Willie Syndrome
What is Fragile X syndrome (FXS)? - ANSWER- - A genetic condition inherited from
parents which results in various developmental problems
- Rare, but may be dangerous or life-threatening
- Present at birth and is a lifelong condition
- Rarely requires lab testing or imaging
- Often linked to autism (1/3 do have autism)
- X-linked disorder
,Since Fragile X Syndrome (FXS) is an X-linked disorder, does a specific gender have a
greater risk? - ANSWER- - Often, females are carriers and males are affected
- However, both males and females can be carriers, and both can be affected by the
condition
- Usually milder in females
How did Fragile X Syndrome (FXS) get its name? - ANSWER- - The gene Fragile X (the
FMR1 gene) is on the X syndrome
- Mutation of the FMR1 gene
What is the difference between Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
and Fragile X Syndrome (FXS)? - ANSWER- - Both caused by mutations on the FMR1
gene, but they are caused by different changes in this gene
- FXS is caused by a full mutation
- FXTAS is a premutation
- FXS is present at birth, but display these features in early life
- FXTAS develops in adulthood (usually after age 50) and the symptoms may appear
slowly and develop over the years
- FXTAS individuals are usually healthy with normal cognitive skills prior to the onset
How is Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) diagnosed? -
ANSWER- - Being a FMR1 premutation carrier
- The appearance of neurological features such as ataxia (balance problems), tremors,
and other symptoms
- MRI findings (changes in the brain)
What is Prader-Willie Syndrome? - ANSWER- - Genetic disorder that affects many parts
of the body and their growth
- Causes mental and behavioral problems
- Can be dangerous or life threatening if untreated
- Combination of contraceptives contraindicated in breast feeding
- More common in females
- Confirmed from laboratory findings
What is the cause of Prader-Willi Syndrome? - ANSWER- - Depletion of chromosome
15 from father
- Missing or non-working genes on chromosome 15 (15q11-q13)
- Most cases are not inherited and occur randomly
- Depletion of genes (genes from the region are missing)
, - Uniparental disomy - both chromosomes are inherited from the mother
- Imprinting mutation - genes on the paternal chromosome is inactive
What does Prader-Willi Syndrome do to the body? - ANSWER- - Caused the
hypothalamus to malfunction (the area of the brain that affects hunger, thirst, sex and
growth hormones)
- In infancy, an individual does not meet development milestones suck as sitting up and
walking
- Their eyes lack coordination
What is a key feature of Prader-Willi Syndrome? - ANSWER- - A constant sense of
hunger that usually begins around 2 years of age
- People with Prader-Willi Syndrome want to eat constantly because they never feel full
What are some symptoms in infants with Prader-Willi Syndrome? - ANSWER- -
Hypotonia with floppy structure and poor muscle tone
- Distinct facial features affecting the shape and size of eyes, lips, forehead, etc.
- Poor sucking ability making it difficult to feed
- Always lethargic and poor responsiveness
- Underdeveloped genitals
What is celiac disease? - ANSWER- - Autoimmune disease
- Damages to the small intestinal epithelium when there is ingestion of gluten
- Loss of mucosal surface and brush border enzymes leads to severe malabsorption
that is more pronounced in the duodenum and jejunum
What strong genetic disposition does celiac disease have? - ANSWER- - Human
leukocyte antigen DQ2 (HLA-DQ2) and HLA-DQ5
What test is recommended for celiac disease? - ANSWER- - IgA-tTG
- Total IgA
- Simple, inexpensive, widely available, typically covered by insurance, and is very
accurate in untreated celiac disease
What are the recommended tests for celiac disease? - ANSWER- - Total IgA
- IgA-tTg
- IgA-EMA
- If IgA is deficient, it is recommended that IgG/IgA-DGP also be ordered