Primary Care Topics Flashcards
(34 cards)
Is passage of clots normal during menstruation?
yes, but clots should be no bigger than about 1 cm in diameter
How do we define menopause? Perimenopause?
- menopause is the cessation of menses for more than 1 year
- perimenopause is the time of transition from menstrual to non-menstrual life when ovarian function declines, often lasting 1-2 years
Describe the perimenopausal period?
- it is the period of transition from menstrual to non-menstrual life when ovarian function declines
- it usually begins with increasing menstrual irregularity and is associated with hot flushes, nervousness, mood changes, decreased vaginal lubrication, and altered libido
- it typically lasts 1-2 years
How is infertility defined? At what point do we evaluate women for infertility?
- failure to conceive for one year with sufficiently frequent sexual encounters
- we evaluate women after one year unless they are over 35 in which case we evaluate them after 6 months
What is the inframammary ridge?
- a normal finding with palpation of the breast
- most often seen in women with large breasts
- it presents as a firm ridge of tissue located transversely along the lower edge of the breast
Which is currently recommended for normal risk women, breast self-awareness or breast self-examination?
self-awareness because self-exmaation is associated with a higher incidence of false-positive findings
What recommendation exists for the frequency of pelvic exams?
annually for women 21 and older
What is the difference between a Pederson and a Graves speculum?
- Pedersons are flat and narrow without much curvature; they are appropriate for nulliparous and postmenopausal women with atrophic vaginas
- Graves are wider, higher, and curved; they are more appropriate for parous women
What recommendation exists for clinical breast examination?
- every 1-3 years for women 25-39
- annually thereafter
What recommendation exists for mammography?
- initiated between 40-50 years old
- performed annually or biennially
- continued until 75
What role does ultrasound play in the detection of breast cancer?
ultrasound is used to evaluate inconclusive mamographic findings, to differentiate solid from cystic masses, to evaluate women with dense breasts, and to guide needle biopsies
MRI breast cancer screening is recommended for what population?
those with a greater than 20% lifetime risk, who have a BRCA mutation, or who have a first-degree relative with a BRCA mutation
What recommendation exists for cervical cytology screening?
- initiated at age 21 and performed every three years
- cotesting to be performed every five years after age 30
- cessation at 65 years of age unless there is a history of CIN 2 or higher
- with CIN 2 or higher, perform screening for at least 20 years after management
What recommendation exists for colorectal cancer screening?
recommended for average risk women starting at age 50 (45 if African American) and to be performed every 10 years until age 75
What is the recommendation for G/C screening?
recommended for all sexually active women young than 25 and asymptomatic women over 25 who are at high risk
How do we screen for diabetes? What are the thresholds for each method?
- fasting glucose greater than 126
- 2-hour oral glucose challenge greater than 200
- random plasma glucose greater than 200 with symptoms
- A1C greater than 6.5
How do we define heteroploidy, euploidy, and aneuploidy?
- heteroploidy is any alteration in the chromosome number
- euploidy is a specific heteroploidy which involves an alteration of the haploid number (e.g. 69,XXX)
- aneuploidy is a specific heteroploidy which involves an alteration of the diploid number (e.g. trisomy 21)
Trisomy 21
- caused by meiotic non-dysjunction due to maternal age, unbalanced Robertsonian translocation, or mitotic non-dysfunction
- presents with nuchal translucency and hypoplasia of the nasal bone on ultrasound in the first trimester
- amniotic fluid in the first trimester demonstrates elevated B-hCG and diminished PPAP-A
- amniotic fluid in the second trimester demonstrates low AFP, elevated B-hCG, low estriol, and elevated inhibin A
- presents with intellectual disability, risk for Alzheimer’s, duodenal atresia, Hirschsprung disease, risk of ALL or AML, prominent epicanthal folds, Brushfield spots, and AV septal defects
Trisomy 18
- the second most common cause of trisomy, known as Edward’s syndrome
- in utero, B-hCG and PPAP-A are low in the first trimester; AFP, B-hCG, estriol, and inhibin A are low in the second
- findings described by “PRINCE Edward”: prominent occiput, rocker bottom feet, intellectual disability, nondisjunction, clenched fists with overlapping fingers, low-set ears
- plus micrognathia and congenital heart disease
Trisomy 13
- known as Patau syndrome
- B-hCG and PPAP-A are low in the first trimester
- microcephaly, holoprosencephaly, intellectual disability
- microphthalmia, cleft lip/palate
- congenital heart disease
- PKD
- cutis aplasia, polydactyly, rocker bottom feet
Cri-du-chat Syndrome (cause and presentation)
- a congenital micro deletion of the short arm of chromosome 5
- presents with microcephaly, moderate-to-severe intellectual disability, high-pitched crying/mewing, epicentral folds, and cardiac abnormalities (VSD)
Turner Syndrome
- XO females
- most often resulting from meiotic error (in the father), but can be due to a mitotic error after fertilization, which results in mosaicism
- gonadal dysgenesis results in low estrogen and high LH/FSH
- presents with short stature, shield chest with wide nipples, streak ovaries, bicuspid aortic valve, coarctation, lymphatic defects (e.g. webbed neck, lymphedema in feet or hands, cystic hygroma), and a horseshoe kidney
- it is the most common cause of primary amenorrhea
- no Barr body is found
What is the difference between a balanced and unbalanced translocation?
balanced is when equal amounts of genetic material are exchanged between chromosomes and unbalanced is when unequal amounts are
What are Robertsonian translocations?
- those which affect acrocentric chromosomes such as 13, 14, 15, 21, and 22
- they result in a phenotypically normal individual who produces gametes that may be unbalanced
