Nurs 221 Pathophysiology midterm 1 Exam
Questions With Verified Answers
Marfan Syndrome
connective tissue disease
autosomal dominant
cardiac, musculoskeletal, and ophthalmologic systems are most affected
cardiac
musculoskeletal
ophthalmologic
What systems are most affected by Marfan Syndrome?
long slender fingers
excessive height
joint laxity
What are the predominant characteristics of Marfan Syndrome?
Phenylketonuria (PKU)
causes the amino acid Phenylalanine to accumulate in the body because of the non production of the
enzyme phenylalanine hydrolase
- autosomal recessive
phenylalanine
PKU affects the degredation of ___.
Phenylalanine hydrolase
What do people with PKU lack?
intellectual disability (from building Phenylalanine levels)
If PKU goes untreated, what can happen?
Classic PKU (infants appear normal until several months old, causes permanent intellectual disability
without treatment, seizures, delayed development, behavioral problems, and psychiatric disorders)
What is the most severe form of PKU?
all proteins and some artificial sweeteners
What is Phenylalanine found in?
lifetime diet with limited protein intake
taking a PKU formula (special nutritional supplement that contains essential proteins and nutrients
without phenylalanine that are crucial for growth and general health)
What is the treatment of PKU?
Fragile X Syndrome
changes in the FMR1 gene that prevents the body from making a protein necessary for normal brain
development
, most common cause of inherited intellectual disability
x-linked dominant
Fragile X Syndrome
What is the most common cause of inherited intellectual disability?
men (women have milder symptoms)
Who does Fragile X Syndrome predominantly affect?
autistic behaviors
poor eye contact
significant intellectual disabilities
What are the behavioral features of FXS?
large ears
long face
What are the physical features of FXS?
epicanthal folds
slanted eyes
flat facial profile
malformed ears
congenital heart disease
acute lymphoblastic leukemia
growth failure
flat occiput
big, protruding, wrinkled tongue
intestinal malformations
short, broad hands with simian crease
wide gab between first and second toes
What are the clinical features of a child with Down Syndrome?
Down Syndrome
What is a numeric disorder involving autosomal chromosomes?
Trisomy 21
What is another name for Down Syndrome?
small stature
broad chest with widely spaced nipples
poor breast development
ovarian dysgenesis with primary amenorrhea, estrogen and progesterone deficiencies
infertility
multiple pigmented nevi
lymphedema of hands and feet
low posterior hairline
webbed neck
coarctation of aorta and bicuspid aortic valve
wide carrying angle of arms
Questions With Verified Answers
Marfan Syndrome
connective tissue disease
autosomal dominant
cardiac, musculoskeletal, and ophthalmologic systems are most affected
cardiac
musculoskeletal
ophthalmologic
What systems are most affected by Marfan Syndrome?
long slender fingers
excessive height
joint laxity
What are the predominant characteristics of Marfan Syndrome?
Phenylketonuria (PKU)
causes the amino acid Phenylalanine to accumulate in the body because of the non production of the
enzyme phenylalanine hydrolase
- autosomal recessive
phenylalanine
PKU affects the degredation of ___.
Phenylalanine hydrolase
What do people with PKU lack?
intellectual disability (from building Phenylalanine levels)
If PKU goes untreated, what can happen?
Classic PKU (infants appear normal until several months old, causes permanent intellectual disability
without treatment, seizures, delayed development, behavioral problems, and psychiatric disorders)
What is the most severe form of PKU?
all proteins and some artificial sweeteners
What is Phenylalanine found in?
lifetime diet with limited protein intake
taking a PKU formula (special nutritional supplement that contains essential proteins and nutrients
without phenylalanine that are crucial for growth and general health)
What is the treatment of PKU?
Fragile X Syndrome
changes in the FMR1 gene that prevents the body from making a protein necessary for normal brain
development
, most common cause of inherited intellectual disability
x-linked dominant
Fragile X Syndrome
What is the most common cause of inherited intellectual disability?
men (women have milder symptoms)
Who does Fragile X Syndrome predominantly affect?
autistic behaviors
poor eye contact
significant intellectual disabilities
What are the behavioral features of FXS?
large ears
long face
What are the physical features of FXS?
epicanthal folds
slanted eyes
flat facial profile
malformed ears
congenital heart disease
acute lymphoblastic leukemia
growth failure
flat occiput
big, protruding, wrinkled tongue
intestinal malformations
short, broad hands with simian crease
wide gab between first and second toes
What are the clinical features of a child with Down Syndrome?
Down Syndrome
What is a numeric disorder involving autosomal chromosomes?
Trisomy 21
What is another name for Down Syndrome?
small stature
broad chest with widely spaced nipples
poor breast development
ovarian dysgenesis with primary amenorrhea, estrogen and progesterone deficiencies
infertility
multiple pigmented nevi
lymphedema of hands and feet
low posterior hairline
webbed neck
coarctation of aorta and bicuspid aortic valve
wide carrying angle of arms
