CMN 577: Unit 1 with complete solution
What groups have the highest incidence of HIV in the transgender population? -
CORRECT ANSWER-AA & Hispanic transgender women (assigned male sex at
birth)
HIV PEP timing - CORRECT ANSWER-•must be started within 72 hours (3 days)
after you may have been exposed to HIV.
-you'll need to take it once or twice
daily for 28 days
Patients eligible for HIV PrEP: - CORRECT ANSWER-You are a gay/bisexual
man, IV drug user or heterosexual man/woman who:
• have an HIV-positive partner.
• share needles, syringes,
• multiple partners, a partner have multiple partners
• have anal sex without or don't always use a condom with all partners (MSM
esp)
-sex with people who inject drugs, or recently had an STD
signs & symptoms of Acute Intermittent Purphyoria; - CORRECT
ANSWER--Intermittent abdominal pain (varying degrees of pain) that recurs
without leukocytosis or fever because origin of the abdominal pain is neurologic .
The pain typically resolves completely between attacks.
-peripheral neuropathy, seizures, altered level of consciousness, and even
psychosis
characteristics of acute intermittent porphyria - CORRECT ANSWER--autosomal
dominant,metabolic disorder affecting production of heme resulting from
deficiency of porphobilinogen deaminase
-presents in adulthood (late teens/early 20's) and in females instead of males
labs to evaluate for acute intermittent porphyria? - CORRECT ANSWER-CMP: to
rule out elevated LFTs and to evaluate for profound hyponatremia (common
finding). *elevated levels of porphobilinogen in the urine during an acute attack is
diagnostic for AIP
,-Note that the urine may be clear/normal in color when first voided but will turn
dark upon being exposed to air and light.
treatment of acute intermittent porphyria: - CORRECT ANSWER-Avoid known
triggers, especially barbiturates and sulfonamides, seizure meds, migraine
medications.
-Starvation/low carb diets (including prolonged fasts) can exacerbate or trigger
symptoms.
*high carbohydrate diet (300g carb/day) is effective in many patients and is an
easy treatment option.
A patient with AIP who is considering pregnancy should be referred for
counseling. A patient with seizures, hyponatremia, or mental status changes
should be hospitalized for treatment.
characteristics of trisomy 21 (Down' syndrome): - CORRECT
ANSWER-craniofacial features include flat occiput, epicanthal folds, single
palmar crease, and a large tongue.
Other common findings include: heart defects (congenital such as AV canal
defects), duodenal atresia, hearing impairment, and intellectual disabilities. Visual
deficits are common as well.
Short term memory loss, similar to (if not actually) Alzheimer's, begins as early as
forty years of age. The earlier the onset of dementia, the shorter the life span.
labs/imaging for trisomy 21: - CORRECT ANSWER-Multiple Marker Screening
(MMS)/triple screen- between 15 and 20 weeks of gestation. This evaluates for
Down Syndrome, neural tube defects (such as spina bifida and anencephaly),
multiple fetuses, and to evaluate the pregnancy timeline or progression.
*The test evaluates alpha-fetoprotein (AFP) for neural tube defects, hCG, and
estradiol.
-Elevated levels of of AFP are associated with neural tube defects; low AFP
levels concern for Downs & Trisomy 18.
Low estriol is found in both Down Syndrome and Trisomy 18.
, Cytogenomic analysis should be performed to look for unbalanced
translocations. A parent with balanced translocations (an even/equal exchange of
genetic material that allows for full functionality without extra or missing
information) has a higher risk of having additional children with Down Syndrome
Down syndrome monitoring/treatment: - CORRECT ANSWER-Monitor for
hypothyroidism, symptoms of dementia (early or late), and for leukemia.
-higher risk ALL & AML
There may be an impairment of the immune system, therefore increasing the risk
for infection(s). Celiac disease and atlanto-axial instability
Surgery as indicated for cardiac congenital defects-patients
Fragile X Mental Retardation - CORRECT ANSWER-genetic disorder has the
highest number of mental retardation cases in males other than Down Syndrome.
-The occurrence in females is approximately 50% less than males.
-The FMR1 gene has expanded trinucleotide repetition with more than 200
copies being present.
signs & symptoms of fragile x mental retardation - CORRECT ANSWER-Males:
mental retardation, autism spectrum disorders along with impulsivity, repetitive
and aggressive behaviors. After puberty, the testes are enlarged
(macro-orchidism). Other physical findings include large ears, a more prominent
jaw, and high pitched voice
Females: the only physical signs are early menopause (ovarian failure). Mental
retardation may be present but learning disabilities, and sensory issues (think of
the autism spectrum)
Both males and females are subject to mood disorders, including anxiety, as well
as tremor and ataxia after middle age
labs & imaging for fragile x mental retardation - CORRECT ANSWER-Evaluation
for the number of trinucleotide repeats near the FMR1 gene should be done on
any male or female with unexplained mental retardation.
What groups have the highest incidence of HIV in the transgender population? -
CORRECT ANSWER-AA & Hispanic transgender women (assigned male sex at
birth)
HIV PEP timing - CORRECT ANSWER-•must be started within 72 hours (3 days)
after you may have been exposed to HIV.
-you'll need to take it once or twice
daily for 28 days
Patients eligible for HIV PrEP: - CORRECT ANSWER-You are a gay/bisexual
man, IV drug user or heterosexual man/woman who:
• have an HIV-positive partner.
• share needles, syringes,
• multiple partners, a partner have multiple partners
• have anal sex without or don't always use a condom with all partners (MSM
esp)
-sex with people who inject drugs, or recently had an STD
signs & symptoms of Acute Intermittent Purphyoria; - CORRECT
ANSWER--Intermittent abdominal pain (varying degrees of pain) that recurs
without leukocytosis or fever because origin of the abdominal pain is neurologic .
The pain typically resolves completely between attacks.
-peripheral neuropathy, seizures, altered level of consciousness, and even
psychosis
characteristics of acute intermittent porphyria - CORRECT ANSWER--autosomal
dominant,metabolic disorder affecting production of heme resulting from
deficiency of porphobilinogen deaminase
-presents in adulthood (late teens/early 20's) and in females instead of males
labs to evaluate for acute intermittent porphyria? - CORRECT ANSWER-CMP: to
rule out elevated LFTs and to evaluate for profound hyponatremia (common
finding). *elevated levels of porphobilinogen in the urine during an acute attack is
diagnostic for AIP
,-Note that the urine may be clear/normal in color when first voided but will turn
dark upon being exposed to air and light.
treatment of acute intermittent porphyria: - CORRECT ANSWER-Avoid known
triggers, especially barbiturates and sulfonamides, seizure meds, migraine
medications.
-Starvation/low carb diets (including prolonged fasts) can exacerbate or trigger
symptoms.
*high carbohydrate diet (300g carb/day) is effective in many patients and is an
easy treatment option.
A patient with AIP who is considering pregnancy should be referred for
counseling. A patient with seizures, hyponatremia, or mental status changes
should be hospitalized for treatment.
characteristics of trisomy 21 (Down' syndrome): - CORRECT
ANSWER-craniofacial features include flat occiput, epicanthal folds, single
palmar crease, and a large tongue.
Other common findings include: heart defects (congenital such as AV canal
defects), duodenal atresia, hearing impairment, and intellectual disabilities. Visual
deficits are common as well.
Short term memory loss, similar to (if not actually) Alzheimer's, begins as early as
forty years of age. The earlier the onset of dementia, the shorter the life span.
labs/imaging for trisomy 21: - CORRECT ANSWER-Multiple Marker Screening
(MMS)/triple screen- between 15 and 20 weeks of gestation. This evaluates for
Down Syndrome, neural tube defects (such as spina bifida and anencephaly),
multiple fetuses, and to evaluate the pregnancy timeline or progression.
*The test evaluates alpha-fetoprotein (AFP) for neural tube defects, hCG, and
estradiol.
-Elevated levels of of AFP are associated with neural tube defects; low AFP
levels concern for Downs & Trisomy 18.
Low estriol is found in both Down Syndrome and Trisomy 18.
, Cytogenomic analysis should be performed to look for unbalanced
translocations. A parent with balanced translocations (an even/equal exchange of
genetic material that allows for full functionality without extra or missing
information) has a higher risk of having additional children with Down Syndrome
Down syndrome monitoring/treatment: - CORRECT ANSWER-Monitor for
hypothyroidism, symptoms of dementia (early or late), and for leukemia.
-higher risk ALL & AML
There may be an impairment of the immune system, therefore increasing the risk
for infection(s). Celiac disease and atlanto-axial instability
Surgery as indicated for cardiac congenital defects-patients
Fragile X Mental Retardation - CORRECT ANSWER-genetic disorder has the
highest number of mental retardation cases in males other than Down Syndrome.
-The occurrence in females is approximately 50% less than males.
-The FMR1 gene has expanded trinucleotide repetition with more than 200
copies being present.
signs & symptoms of fragile x mental retardation - CORRECT ANSWER-Males:
mental retardation, autism spectrum disorders along with impulsivity, repetitive
and aggressive behaviors. After puberty, the testes are enlarged
(macro-orchidism). Other physical findings include large ears, a more prominent
jaw, and high pitched voice
Females: the only physical signs are early menopause (ovarian failure). Mental
retardation may be present but learning disabilities, and sensory issues (think of
the autism spectrum)
Both males and females are subject to mood disorders, including anxiety, as well
as tremor and ataxia after middle age
labs & imaging for fragile x mental retardation - CORRECT ANSWER-Evaluation
for the number of trinucleotide repeats near the FMR1 gene should be done on
any male or female with unexplained mental retardation.
