NUR 631 MIDTERM EXAM
Trisomy 21 (Down Syndrome)- what is chromosomal autosomal chromosomal disorder #21
cause nondisjunction
-r/f: high maternal age
Trisomy 21 S/S -Simian crease: single crease in palm of hand
-Small head, flat facial features
-heart defects
-leukemia ALL
-dementia
-decreased IQ
-speech difficulties
-widely seperated first and second toes
Simian Crease -single crease in palm of hand
-trisomy 21
Cri du Chat chromosomal cause -autosomal chromosomal adnormality
-deletion of short arm of chromosome 5
Cri du Chat S/S -characteristic cry, laryngeal malformation
-severe intellectual disability
-congenital heart abnormalities
-round face
Klinefelter Syndrome chromosomal cause -sex chromosome disorder
-XXY male: eXtra X chromosome
Klinefelter Syndrome S/S -both male and female sex characteristics
-decreased testosterone= gynecomastia, less facial and body hair
-infertility
Klinefelter Syndrome Treatment -testosterone replacement therapy
-speech therapy
Turner's Syndrome Chromosomal cause -sex chromosome disorder
-woman with only one X chromosome (missing an X)
Turner's syndrome S/S -webbed neck
-infertile
-short stature
-widely spaced nipples
-short stature
-infants have swollen hands and feet
Turner's syndrome babies are at risk for... coarctation of aorta (may need replacement)
Androgen Insensitivity Syndrome Chromosomal cause -sex chromosome disorder
-XY male has genital appearance of a woman
-male has appearance of woman but does NOT produce estrogen
-DOES produce testosterone
-inherited X linked recessive
How is Androgen Insensitivity Syndrome diagnosed? -when menstruation does not occur in a young woman
Types of Androgen Insensitivity Syndrome -CAIS: completely lacks female internal organs
-PAIS: partial appearance on spectrum
-MAIS: mildly impaired sperm development
-INFERTILE
, NUR 631 MIDTERM EXAM
PKU chromosomal cause -autosomal recessive
-inborn error of metabolism
S/S of phenylketonuria -overly irritable infant
-musty odored urine and sweat d/t excreting PKU
how is PKU diagnosed? -routine screening at birth to prevent intellectual disability
autosomal dominant disorders are given by... mom OR dad
autosomal recessive disorders are given by... BOTH mom and dad
Sex linked (X) linked disorders are given by... only mom
what steps should be taken when diagnosing any genetic -oder genetic counseling
disorder? -possibly family genetic testing
framework of pathophysiology 1. name of disease
2. etiology
3. pathogenesis
4. risk factors
5. clinical manifestations
6. Diagnostics
7. treatment
What is etiology etiology is the cause
what is pathogenesis pathogenesis is how it affects the body
-development of disease
what are risk factors factors that put one at risk for the disease
what are clinical manifestations sign and symptoms
what are diagnostics testing for disease
signs OBJECTIVE or OBSERVED manifestations of disease
example of a sign of the disease -vomiting
-tachycardia
-objective or observed
, NUR 631 MIDTERM EXAM
symtoms SUBJECTIVE feeling of abnormality in the body
example of symptoms -nausea
-"feels like my heart is racing"
-SUBJECTIVE feeling of abnormality
syndrome etiology of s/s has not yet been determined
latent period -time between exposure of tissue to injurious agent and first appearance of s/s
-AKA incubation period for infectious diseases
incubation period latent period in infectious diseases
prodromal period time during which first s/s appear, indicating onset of disease
acute phase disease/illness reaches full intensity
latent vs subclinical LATENT: period during illness when s/s temporarily become mild, silent, or
disappear. HAD disease, now it's on backnine.
SUBCLINICAL: pt functions normally, even with disease. HAVE disease, but not
showing S/S.
example of subclinical phase TB, STDs, walking pneumonia, having a high viral load
validity degree to which a measurement reflects the true value of what it intends to
measure
predictive value extent to which a test can differentiate between presence or absence of a
person's condition
sensitivity probability that a test will be positive when applied to a person with particular
condition
-true positives
specificity probability that a test will be negative when applied to a person without the
particular disease
-true negative
cultural considerations each culture defines health and illness in a manner that reflects their experience
-does NOT effect blood count
-reflects experiences in healthcare
homeostasis remaining stable
-equilibrium, setpoint, balance
allostasis compensatory mechanisms to restore homeostasis
-adaptive changes
Trisomy 21 (Down Syndrome)- what is chromosomal autosomal chromosomal disorder #21
cause nondisjunction
-r/f: high maternal age
Trisomy 21 S/S -Simian crease: single crease in palm of hand
-Small head, flat facial features
-heart defects
-leukemia ALL
-dementia
-decreased IQ
-speech difficulties
-widely seperated first and second toes
Simian Crease -single crease in palm of hand
-trisomy 21
Cri du Chat chromosomal cause -autosomal chromosomal adnormality
-deletion of short arm of chromosome 5
Cri du Chat S/S -characteristic cry, laryngeal malformation
-severe intellectual disability
-congenital heart abnormalities
-round face
Klinefelter Syndrome chromosomal cause -sex chromosome disorder
-XXY male: eXtra X chromosome
Klinefelter Syndrome S/S -both male and female sex characteristics
-decreased testosterone= gynecomastia, less facial and body hair
-infertility
Klinefelter Syndrome Treatment -testosterone replacement therapy
-speech therapy
Turner's Syndrome Chromosomal cause -sex chromosome disorder
-woman with only one X chromosome (missing an X)
Turner's syndrome S/S -webbed neck
-infertile
-short stature
-widely spaced nipples
-short stature
-infants have swollen hands and feet
Turner's syndrome babies are at risk for... coarctation of aorta (may need replacement)
Androgen Insensitivity Syndrome Chromosomal cause -sex chromosome disorder
-XY male has genital appearance of a woman
-male has appearance of woman but does NOT produce estrogen
-DOES produce testosterone
-inherited X linked recessive
How is Androgen Insensitivity Syndrome diagnosed? -when menstruation does not occur in a young woman
Types of Androgen Insensitivity Syndrome -CAIS: completely lacks female internal organs
-PAIS: partial appearance on spectrum
-MAIS: mildly impaired sperm development
-INFERTILE
, NUR 631 MIDTERM EXAM
PKU chromosomal cause -autosomal recessive
-inborn error of metabolism
S/S of phenylketonuria -overly irritable infant
-musty odored urine and sweat d/t excreting PKU
how is PKU diagnosed? -routine screening at birth to prevent intellectual disability
autosomal dominant disorders are given by... mom OR dad
autosomal recessive disorders are given by... BOTH mom and dad
Sex linked (X) linked disorders are given by... only mom
what steps should be taken when diagnosing any genetic -oder genetic counseling
disorder? -possibly family genetic testing
framework of pathophysiology 1. name of disease
2. etiology
3. pathogenesis
4. risk factors
5. clinical manifestations
6. Diagnostics
7. treatment
What is etiology etiology is the cause
what is pathogenesis pathogenesis is how it affects the body
-development of disease
what are risk factors factors that put one at risk for the disease
what are clinical manifestations sign and symptoms
what are diagnostics testing for disease
signs OBJECTIVE or OBSERVED manifestations of disease
example of a sign of the disease -vomiting
-tachycardia
-objective or observed
, NUR 631 MIDTERM EXAM
symtoms SUBJECTIVE feeling of abnormality in the body
example of symptoms -nausea
-"feels like my heart is racing"
-SUBJECTIVE feeling of abnormality
syndrome etiology of s/s has not yet been determined
latent period -time between exposure of tissue to injurious agent and first appearance of s/s
-AKA incubation period for infectious diseases
incubation period latent period in infectious diseases
prodromal period time during which first s/s appear, indicating onset of disease
acute phase disease/illness reaches full intensity
latent vs subclinical LATENT: period during illness when s/s temporarily become mild, silent, or
disappear. HAD disease, now it's on backnine.
SUBCLINICAL: pt functions normally, even with disease. HAVE disease, but not
showing S/S.
example of subclinical phase TB, STDs, walking pneumonia, having a high viral load
validity degree to which a measurement reflects the true value of what it intends to
measure
predictive value extent to which a test can differentiate between presence or absence of a
person's condition
sensitivity probability that a test will be positive when applied to a person with particular
condition
-true positives
specificity probability that a test will be negative when applied to a person without the
particular disease
-true negative
cultural considerations each culture defines health and illness in a manner that reflects their experience
-does NOT effect blood count
-reflects experiences in healthcare
homeostasis remaining stable
-equilibrium, setpoint, balance
allostasis compensatory mechanisms to restore homeostasis
-adaptive changes
