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45 Cards in this Set
- Front
- Back
- 3rd side (hint)
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What is the chance that the baby will get CF if both parents are carriers?
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25%
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What is a dominant dz?
What is a recessive dz? |
Dominant dz is caused if 1 gene of a pair does not function
Recessive dz is caused only when both genes of the pair do not function |
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In X linked recessive dz, will the baby get the disease? if so, what's the chance.
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In X linked recessive dz, the baby girl will NOT get the disease. The chance is 50% that the baby boy will get the disease
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What is an example of an X linked recessive d.o?
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Hemophilia
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What is trisomy 13? What is the life expectancy of this dz?
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Patau syndrome: a person has three copies of genetic material from chromosome 13
Mean life expectancy is 4 months |
Cleft lip or palate
Clenched hands (with outer fingers on top of the inner fingers) Close-set eyes -- eyes may actually fuse together into one Decreased muscle tone Extra fingers or toes (polydactyly) Hernias: umbilical hernia, inguinal hernia Hole, split, or cleft in the iris (coloboma) Low-set ears Mental retardation, severe Scalp defects (missing skin) Seizures Single palmar crease Skeletal (limb) abnormalities Small eyes Small head (microcephaly) Small lower jaw (micrognathia) Undescended testicle (cryptorchidism) |
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How does a baby with trisomy 18 look like?
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Thin & frail
FTT, difficulty feeding SGA, weak cry. |
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what's the h/o trisomy 18 baby look like?
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Feeble fetal activity
Polyhydraminos Small placenta - SINGLE UMBILICAL ARTERY |
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How does the chromosomes look like in a baby with Turner syndrome?
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Missing the X chromosome, usually from dad
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How does a baby with Turner Syndrome look like?
What kind of therapy do they need? |
1. Short stature (rather square)
Cardiovascular & urinary abnormalities Minimal ovary tissue 2. Hormone replacement therapy |
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What is Klinefelter syndrome? When are they usually diagnosed?
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Extra X chromosome in the sex chromosome pair
They're usually not diagnosed until puberty |
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Are Klinefelter pt. infertile? Do they usually have lower than normal IQ?
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YES YES
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What is trisomy 18?
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a third copy of genetic material from chromosome 18
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Clenched hands
Crossed legs (preferred position) Feet with a rounded bottom (rocker-bottom feet) Low birth weight Low-set ears Mental deficiency Small head (microcephaly) Small jaw (micrognathia) Underdeveloped fingernails Undescended testicle Unusual shaped chest (pectus carinatum) |
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What is the CBE recommendation for women in their 20s & 30s?
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Every 3 years
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What is the CBE recommendation for women AFTER 40
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Every year
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T or F. The risk of getting breast cancer increases with age
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True
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Name some risk factors for cervical cancer
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1. Onset of sex in early adolescence
2. Not using condoms 3. Multiple partners (or 1 partner w/ multiples) 4. Repeated STIs 5. Smoking 6. Diets (low in fruits & vegetables) 7. Obesity |
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Describe cervical screening (when should it begin)
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Pap smear
Screening should begin 3 years after a woman begins having vaginal intercourse, but no later than 21 years of age |
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What is the guideline for cervical cancer screening?
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1. Screening should be done every year with the regular Pap test
2. Beginning at age 30, women who have had 3 normal Pap test results in a row may get screened every 2 to 3 years. 3. Women 70 years of age or older who have had 3 or more normal Pap tests in a row and no abnormal Pap test results in the last 10 years may choose to stop having Pap tests. 4. Women who have had a total hysterectomy (removal of the uterus and cervix) may also choose to stop having Pap tests, unless the surgery was done as a treatment for cervical cancer or pre-cancer. Women who have had a hysterectomy without removal of the cervix should continue to have Pap tests. |
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Cervical cancer
What is the treatment if it's situ cancer? If it's advanced cancer? |
1. Cryotherapy for situ cancer
2. Surgery, radiation, therapy for more advanced cancer |
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What is the hallmark sx of endometrial cancer?
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Abnormal uterine bleeding
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What are the risk factors for endometrial cancer?
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1. Early menarche, late menopause
2. Infertility, nulligravida 3. Unopposed estrogen therapy 4. Obesity |
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What might the surgical tx look like for stage 2 endometrial cancer?
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TAH/BSO + pelvic node dissection
upper 1/3 of vagina Radiation sometimes before & after surgery Chemo |
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What are the late signs for the silent killer cancer: ovarian cancer?
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Pelvic discomfort or pain
Anemia Lethargy |
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What are some factors that can reduce the risk of ovarian cancer?
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Pregnancy
Breastfeeding Tubal ligation |
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List the s/s of ovarian cancer
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1. Abd pressure, fullness, swelling, bloating
2. Unexplained changes in bowel habits (diarrhea or constipation) 3. Changes in bladder habits (frequent need to urinate) 4. Persistent indigestion 5. Dyspareunia |
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What are the risk factors for ovarian cancer?
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1. Inherited mutation in EITHER BRCA1 & BRCA 2
Genes were originally ID in families w/ multiple cases of breast cancer. 2. Obesity in early adulthood 3. Ovarian cysts (form after menopause) |
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You can have elective surgery to remove ovarian tissue
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Associated w/ an estimated 66% reduction in ovarian cancer risk
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What is the CA 125 blood test going to look like for women with ovarian cancer?
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Increased protein atigen in the blood serum.
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Usually at what stage are women diagnosed with ovarian cancer. How far has the cancer spread to at that time?
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Stage 3. Ovarian has spread to the peritoneum or the lymph nodes within the abdomen
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What is the medication for ovarian cancer?
What is the surgical tx? |
1. Taxol
2. TVH or TAH + BSO |
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What are some benign breast masses?
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1. cysts: fluid filled sacs
Often enlarge, tender before menstruation Bilateral Observation or FNA; clearly show up on US 2.fibrocystic disease Disappears after menopause Diffuse, ill-defined, cyclic w/ menses; painful |
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What are the common causes for breast pain?
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1. Chronic cystic mastitis
2. Puberty, approaching menopause 3. early pregnancy 4. estrogen therapy 5. hormonal fluctuations 6. milk engorgement 7. meds (digitalis, aldomet, aldactone, chlorpromazine) 8. alcholism w/ liver damage 9. PMS |
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What are some advice to give for a woman experiencing cyclic breast pain?
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1. Avoiding caffeine
2. Using less salt 3. Taking Vitamin E or B6 4. Diuretic to reduce swelling |
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What are some medications for mastalgia?
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Danzol
Bromocripton |
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Describe cyclical breast pain assessment findings
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Bilateral, affects UOQ.
Average age of onset is early 20's No consistent hormonal abnormality Might have increased prolactin levels No evidence of psychopathology No palpable mass |
This pain typically is worse before your menstrual cycle and usually is relieved at the time your period begins. The pain may also happen in varying degrees throughout the cycle. Because of its relationship to the menstrual cycle, it is believed to be caused by hormonal changes
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Describe non- cyclical breast pain assessment findings
(affects older women) |
Associated w/ cancer. Usually accompanied by a lump, skin retraction
Pain can be continuous or intermittent Localized to a specific area in ONE BREAST. Described as sharp, stabbing, burning sensation Linked to fluid filled cysts, mastitis, breast abscess or musculoskeletal probs |
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What are the risk factors for breast cancer? hint: hormonal influences
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1. early menarche/late menopause (>55)
2. nulliparity, later age at first pregnancy (>30) 3. Obesity 4. Hormonal replacement therapy |
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A woman with a lifetime risk >20% should do what annually?
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MRI & mammogram every year
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T or F
White women are more likely to develop breast cancer while African American women are more likely to get the dz at younger ages, more likely to die from this cancer d/t the high chance of getting aggressive tumors |
True.
Aggressive tumors: ER-negative, high grade |
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A breast cancer discovered during pregnancy is not amenable to lumpectomy. Why?
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due to the need for radiation therapy as part of the treatment. Radiation therapy cannot be administered to pregnant women because it may injure the fetus
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What drugs are d/c and what drugs are prescribed preop of a lumpectomy or mastectomy
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D/c aspirin (minimize excessive bleeding), birth control & other estrogen containing hormones
Prescribe abx to prevent infxn |
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Radical or total mastectomy?
Removal of the entire breast, all underarm lymph nodes, chest wall muscles under the breast |
Radical
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Lymphedema, a complication of mastectomy... what are the treatment options?
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1. Elastic sleeve, arm pump, arm massage, bandaging the arm
2. Exercise & diet 3. Aquatic therapy |
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What is breast reconstructive surgery?
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A flap (section) of skin, muscle, and fat can be moved from another part of the body to the chest area to create a breast shape.
Tissue can be taken from the lower abd, back, or buttocks |
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What are some breast implants complications?
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1. deflation, pain, infxn, hematoma
2. changes in nipple & breast sensation 3. Poor blood supply to the flap tissue, part or all of the tissue in the breast area may not survive the transplant |
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