Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
255 Cards in this Set
- Front
- Back
|
What is a phenocopy? What is an example of this?
|
Phenocopy is a phenotype produced by non-genetic (ie ENVIRONMENTAL) causes, that is similar to a phenotype produced by genetic causes.
An example of this is ambiguous genitalia in females --> fetus exposed to exogenous androgens in utero and with 21OH deficiency (no mineralocorticoids, so shunt everything over to make androgens) |
|
|
Why is it important to ask females about sexarche?
|
The younger a female is at her first intercourse, the higher the risk for cervical trauma --> higher risk for cervical cancer
|
|
|
Marfan Syndrome is an example of pleiotropy. What does this mean and what mutation is present?
How is this mutation inherited? What are the common manifestations of this syndrome? |
Pleiotropy is when a single gene controls multiple traits. Marfans specifically, is due to a mutation in the fibrillin gene (ch 15)
It is inherited in an autosomal dominant fashion Common manifestations are: tall stature, arachnodactyly, dolichostenomelia (long limbs), myopia, aortic root dilitations |
|
|
A woman with known Neurofibromatosis Type I get pregnant. She is worried that her child will have the same disorder. You counsel her by tell her:
1. The inheritance pattern of Neurofibromatosis Type I 2. The gene responsible 3. How she can expect her disease to change during pregnancy |
1. The inheritanc epattern of Neurofibromatosis Type I is Autosomal Dominant
2. The gene responsible is the NF1 Gene 3. During her pregnancy, she can expect the size and number of neurofibromatomas to increase |
|
|
65 year old man with history of MI presents to your office because his family care physician recently started him on a new medication. When you ask him how he feels on this new medication, he shyly says 'Doc, I just can't make boom boom with my wife anymore'. What drug is he on?
|
Beta blocker --> atenolol --> impotence
|
|
|
23 year old female with a history of depression comes in to start a trial of an SSRI. What sexual side effect should you warn her about?
|
She may have trouble reaching orgasm.
|
|
|
If a patient comes in with cafe au lait spots, what autosomal dominant disorder would you want to check for?
|
Neurofibromatosis Type I
|
|
|
What is penetrance?
|
The fraction of individuals with a mutant genotype who will manifest the mutant phenotype
|
|
|
Fragile X syndrome is a good example of anticipation.
What is anticipation? How is Fragile X syndrome in herited and what gene carries the mutation? How does Fragile X manifest? |
Anticipation is a mutant phenotype that increases in severity with each generation.
Fragile X Syndrome is X linked Dominant with partial penetrance and anticipation that is carried on the FMRP1 gene (fragile X mental retardation 1)- TRINUCLEOTIDE EXPANSION DISEASE OF CGG Fragile X presents with hyperactivity, hang flapping, biting, temper tantrums, mental retardation (but maintains moderate IQ), *long face, *prominent jaw and forehead |
|
|
How does Prader Willi present?
What are the underlying genetics? |
Prader Willi Syndrome is characterized by:
feeding problems as neonate, obesity due to compulsive feeding after 18 months, almond shaped eyes, hypopigmentation, learning disabilities, behavior aproblems, small hands and feet, hypogonadism Prader Willi is from a microdeletion on chromosome --> middle section of chromosome 15 is methylated on paternal chromosome This is an example of epigenetic imprinting (a mutatant genotype with a different phenotype depending on the context) |
|
|
How does Angelman Syndrome present?
What are the underlying genetics? |
Angelman Syndrome is characterized by:
happy disposition and inappropriate laughter, severe mental retardation, jerky movements, wide mouth, absent speeech, seizures, microcephaly Angelmann is from a microdeletion on chromosome --> outer sections of chromosome 15 are methylated on maternal chromosome This is an example of epigenetic imprinting (a mutatant genotype with a different phenotype depending on the context) |
|
|
There are several indications for Cytogenetic Analysis, what are they?
Just read this. |
1. patient with features suggestive of a cytogenetic syndrome
2. unusual symptoms such as mental retardation or short stature 3. still born infant 4. couple with two or more unexplained pregnancy losses 5. patient with cancer 6. parents of a child with an aberration 7. offspring of a parent with known aberration |
|
|
Which FISH techniques would you use for a living cell? A non-viable cell? What is the difference between these techniques?
|
Metaphase FISH would be used for a dividing (living cell) --> generally used to identify chromosomes or submicroscopic deletions
Interphase FISH would be used for a non-viable cell --> generally used to count chromosomes or detect abberations (individual cells) |
|
|
What is a Geimsa stain?
|
Geimsa stains are used to stain the G bands of euchromatic regions of chromosomes so they can be compared
|
|
|
What are metacentric, submetacentric and acrocentric chromosomes?
|
Metacentric- centromere in middle
Submetacentric- centromere off center Acrocentric- centromere at end |
|
|
What is the difference between polyploidy, aneuploidy and a chromosomal abberation?
|
Polyploidy- multiple copies of entire genome
Aneuploidy- wrong number of copies of one chromosome Chromosomal abberations- one individual chromosome is messed up |
|
|
47, XX, +13 is...
45, X, -X is ... |
Patau's
Turner's |
|
|
What is the most common cause of polyploidy?
|
Polyspermy is the most common cause of polyploidy.
|
|
|
There are two mechanisms primarily responsible for aneuploidy. What are they?
|
Anaphase Lag- one chromosome doesn't migrate as fast as it should have and is not drawn into the correct daughter cell
Asynapsis- two chromatids fail to pain and are randomly distributed to daughter cells |
|
|
How can a person have partial trisomy?
|
Partial Trisomy is when the patient physically looks like they have Down's, but genetically, they do not.
|
|
|
What happens in a Robertsonian Translocation?
|
Two acrosomic chromosomes lose their acrosome stalks (the satellite regions) and the two larger parts are paired together.
|
|
|
What is a hydatidiform mole? What is its most detrimental outcome?
|
A hydatidiform mole is when a non-viable, fertilized egg implants in the uterus. The mole can be partial or complete.
Complete moles have a diploid chromosomal constitution and no identifiable embryonic or fetal tissues. The genome is totally derived from the father and usually results after the fertilization of an oocyte by a diploid spermatozoon. In contrast, a partial mole occurs when a reduplication of the paternal haploid set happens or a normal egg is fertilized by two normal spermatozoa. Hydatidiform moles increase the risk of choriocarcinoma. |
|
|
What are the chromosomal abberation differences between Down's and Edward's?
|
It has been demonstrated that in Down's, region q22 of chromosome 21 specifically causes the abnormality.
In Edward's, there is no specific region of chromosmome region that is responsible. Chromosome 18 has three copies. |
|
|
Why do we start screening pregnant women at the age of 35 for Down's?
What does an increase in AFP signify? A decrease? |
At 35, the chance of detecting a chromosome abnormality exceeds the risk of miscarriage due to amniocentesis or chrionic villus sampling.
An increase in AFP can signify an open neural tube defect. A decrease in AFP can signify Down's. |
|
|
What is the most concerning risk factors for Down's?
|
Advanced maternal age is the most concerning risk factor for Down's --> nondidjunction occurs at an increased rate with increased age.
|
|
|
Overlapping fingers (2&5 over 3&4) is indicative of...
|
Edwards (Trisomy 18)
You must assume Edwards if you see this until proven otherwise. |
|
|
Symptoms of:
CNS abnormalities, cleft lip/cleft palate, microphthalmia, IUGR, 'rocker bottom feet', prominent proboscis, cyclopia... |
Patau Syndrome
Trisomy 13 |
|
|
One of the most severe complications of Turner's Syndrome that can often terminate the pregnancy is what? Please describe.
|
Cystic Hygroma
A cystic hygroma is a congenital multiloculated lymphatic lesion that can arise anywhere, but is classically found in the left posterior triangle of the neck. It can be associated with a nuchal lymphangioma or a hydrops fetalis. |
|
|
Describe the genetics and physical manifestations of Klinefelter Syndrome. Is this an example of hypotropic hypogonadism or hypertropic hypoganism?
|
Klinefelter Syndrome is XXY and is usually caught during puberty. Clinical findings include: increased height, elongated digits, gynecomastia, hypogonadism and slightly decreased IQ.
This is an example of hypertropic hypogonadism (low levels of testosterone, but high levels of LH/FSH) |
|
|
A newborn in the NICU has a single palmar crease, hypotonia, hypertelorism, microcephaly and a distinctive cat like cry. What is the underlying birth defect and it's inheritance patter?
|
Cri du Chat is a chromosomal abberation involving the deletion of the short arm of chromosome 5 (5p-)
|
|
|
What is Wolf Hirshorn Syndrome? What are the characteristic features of it?
|
Wolf Hirshorn results from a deletion in chromosome 4 in the p arm.
Presents with frontal bossing (prominence of brow ridge), cleft lip, heart defects and an IQ<20 |
|
|
Prader Willi, Angelman, Williams, DiGeorge and Velocardiofacial syndrome all fall under what classification of syndrome? What method is necessary for their detection?
|
They are all microdeletion syndromes.
FISH is needed for detection. |
|
|
A very outgoing child is brought in because his parents are concerned that he is not learning at the same rate as his fellow classmates in preschool. On physical exam, you notice elfin facies. What is the underlying genetic mutation?
|
Williams Syndrome
7q11.2 deletion (elastin gene) Presents commonly as: mental retardation, multiple malformations, arterial stnosis, loquacious personality, elfin facies, musical proficiency |
|
|
What are the CATCH 22 syndromes? Please describe them.
|
DiGeorge Syndrome- cardiac defects, abnormal facies, thymic aplasia, cleft palate, hypocalcemia, growth failure, small upturned nose
Velocardiofacial Syndrome- cardiac defect, abnormal facies, thymic aplasia, cleft palate, hypocalcemia, long face, velopharyngeal insuffieiciency |
|
|
What is the major circulating Estrogen? What is its mechanism of action and it's outcomes?
|
Estradiol- 17B
Enters cells and binds to intracellular receptors --> receptor estrogen complex binds to estrogen response elements (ERE) --> transcription regulation and protein synthesis Estrogen is responsible for: 1. development of vagina, uterus and fallopian tubes 2. secondary sex characteristics 3. development of endometrial lining 4. decreased bone resorption, increased HDL, decreased LDL 5. increased clotting factors (10, 9, 7, 2) |
|
|
Why aren't natural estrogens effective orally? What must we do to estrogens to make them orally effective?
|
Natural estrogens are not effective orally d/t significant first pass hepatic metabolism.
We must add things to them to prevent their metabolism ETHINYL ESTRADIOL and non steroidal estrogens are metabolized very slowly by the liver and are orally active. |
|
|
Estrogens can be used in hormone replacement therapy in menopause. What symptoms of menopause do estrogens treat?
|
1. Vasomotor symptoms
2. Atrophic vaginitis 3. Osteoporosis (bisphosphonates are preferred) |
|
|
Cinestin and Enjuvia are what type of drugs?
|
Cenestin and Enjuvia are conjugated synthetic, orally active estrogens
|
|
|
Alora and Estraderm are what type of drugs? What is important about their delivery?
|
Transdermal estradiol.
Transdermal estradiols were developed to prevent the first pass --> so the estrogen is administered as estradiol 17B Fewer side effects transdermally |
|
|
What class of drug is estring and femring? What are they used to treat?
|
Estradiol vaginal rings
Estring acts locally and treats vaginitis Femring acts more systemically |
|
|
What is the mechanism of action of Raloxifene? What is it used to treat?
|
Raloxifene is a selective estrogen receptor modulator (SERM). It acts as an agonist in bone (good), an antagonist in breast (good), and an antagonist in endometrium (good)
Used as replacement therapy to prevent ostoeporosis and reduce breast cancer risk |
|
|
What is the mechanism of action of Tamoxifen? What is it used to treat? What is special about its metabolism?
|
Tamoxifen is a Selective Estrogen Receptor Modulator (SERM). It acts as an agonist in bone (good), an antagonist in breast (good), and an agonist in endometrium (bad)
It is used to treat estrogen dependent breast tumors Tamoxifen must be activated by metabolism by CYP2D6 --> SSRIs inhibit metabolism |
|
|
What is the first line antiestrogen treatment for infertility? How does it work?
|
Clomiphene is an estrogen receptor antagonist. The decrease in estrogen feed back targets the pituitary to release more FSH/LH, which triggers ovulation.
|
|
|
Which antiestrogen is used to treat endometriosis?
|
Danazol
synthetic derivative of 17-ethinyl-testosterone with weak progestational activity --> induces a pseudo menopausal state by suppressing LF/FSH release --> decrease estrogen and progesterone synthesis --> amenorrhea, anovulation and ATROPHY OF UTERINE ENDOMETRIUM |
|
|
What effects does progesterone have in the body?
|
1. development of secretory endometrium during luteal phase
2. maintenance of pregnancy 3. development of mammary glands 4. increases body temperature |
|
|
Mifepristone and misoprostol are given in conjuntion to terminate early pregnancy. How do they do this?
|
Mifepristone is a progestin antagonist (stops the body from maintaining the pregnancy)
Misoprostol is a prostaglandin agonist (induces contractions) |
|
|
What are the anabolic effects of testosterone?
|
Promote nitrogen retention
Increased muscle size and strength Increase bone growth Promote RBC maturation Increase erythropoietin production |
|
|
Compare the androgenic:anabolic activity of:
1. testosterone 2. nandrolone 3. testosterone propionate 4. methyltestosterone 5. oxandrolone |
1. testosterone: androgenic = anabolic
2. nandrolone: adrogenic < anabolic 3. testosterone propionate: androgenic = anabolic 4. methyltestosterone: androgenic = anabolic 5. oxandrolone: androgenic < anabolic |
|
|
A thirteen year old boy starts taking androgenic steroids so he can be as big and manly as the other boys in his class. Joke's on him. Why?
|
Androgen preparations can cause premature closure of epiphysis (stunted growth) and feminization (large amounts of androgen shunt over to the estradiol production)
|
|
|
A 68 year old man with a history of MI is on warfarin. He comes into your office because he wants medication to increase his libido. What medication is contraindicated in this patient?
|
Testosterone replacement.
Increased bleeding in patients taking warfarin. |
|
|
What type of drug is flutamide? What is it used for?
|
Flutamide is a testosterone receptor antagonist. It is used to treat hirtuism in females, excessive sex drive in men and prostate CA.
|
|
|
What type of drug is spironolactone? What is is used for?
|
Spironolactone is a testosterone receptor antagonist. It is used to treat hirtuism in females, excessive sex drive in men and prostate CA.
Spironolactone also inhibits the effect of aldosterone by competing for intracellular aldosterone receptors in the cortical collecting duct. This decreases the reabsorption of sodium and water, while decreasing the secretion of potassium. It is used to lower blood pressure. |
|
|
What drugs are used in the treatment of BPH? Examples?
What are the important side effects of these drugs? |
5 a reductase inhibitors
Finasteride Dutasteride Decreased libido and impotence |
|
|
What is ketoconazole?
|
Ketoconazole is an antifungal drug that inhibits steroid synthesis
Used to treat Cushings and hirtuitism in polycystic ovarian disease *toxicity limits its use* |
|
|
What are the requirements for an ideal contraceptive?
|
The ideal contraceptive should be effective, acceptable, simple, reversible, inexpensive, and free of toxicity.
|
|
|
Which steroids are frequently used in oral contaceptives? Examples?
What is the mechanism of oral contraceptives? |
The steroids used in oral contraceptives are:
1. Estrogens- ethinyl estradiol, mestranol 2. Progestins- nor- drugs (norethindrone, norgestrel) and -one drugs (drosperionone) The combination of estrogen and progesterone feedback inhibit the release of LH/FSH so the development of the follicle is inhibited and ovulation does not take place. |
|
|
What are the mild side effects of oral contraceptive use?
Moderate? Severe? |
Mild- NV, breakthrough bleeding
Moderate- breakthrough bleeding, weight gain, acne, hirsutism, amenorrhea Severe- vascular disease (remember, estrogen decreases ATIII and increases factors 10, 9, 7, 2), MI, cerebrovascular disease, cholestatic jaundice, GB disease, depression, CA |
|
|
What are some of the contraindications for oral contraceptive use? Why?
|
1. history of thromboembolic disease- estrogen decreases ATIII and increases factors 10, 9, 7, 2
2. Age over 35, smoker- increased risk of vascular problems 3. impaired liver function- liver disorders of pregnancy recur with BCP use 4. history or estrogen dependent malignancy- duh Most of these contraindications are only for the estrogen portion. Progestin only contraceptive may be used. |
|
|
Several drugs can decrease the overall effectiveness of oral contraceptives. Please list some.
|
Oral contraceptives can decrease the effects of oral anticoagulants
Drugs inducing microsomal drug metabolizing enzymes (barbiturates, phenytoin, metronidazole, St. Johns Wart) decrease the effectiveness Antibiotics (rifampin, griseofulvin)may decrease effectiveness, need to use a backup method |
|
|
What do monophasic, biphasic, triphasic and extended cycle mean?
What is the depo-provera shot? |
Monophasic- combination of estrogen and progesterone that stays in the same dosage throughout the entire month
Biphasic- two doses of estrogen and progesterone throughout the month Triphasic- three doses of estrogen and progesterone throughout the month Extended Cycle- contraception on a regimen longer than the physiologic 21 day cycle Depo-provera is an injectable progestin only method, lasts 3 months |
|
|
What is the proposed mechanism of action of IUDs? Examples?
|
IUDs release copper (block estrogen effects on endometrium to inhibit implantation) and progestin (cause thickened cervical mucous and endometrial atrophy to inhibit implantation)
Progestasert (1 year) Mirena (3 years) Paragard (10 years) remember, IUDs do NOT prevent fertilization, they just prevent implantation |
|
|
What are the contraceptive effects of GnRH as a contraceptive? Gossypol? Nifedipine? What types of contraceptives are these?
|
Male contraceptives
GnRH analogs can suppress spermatogenesis Gossypol is a substance isolated from cotton seed that interferes with spermatogenesis; may produce permanent infertility Nifedipine- antihypertensive (CCB) found to inhibit normal sperm funciton |
|
|
Why would progestin-only contraceptives be used for treatment? Examples?
|
Progestins are not contraindicated in a lot of pathologies where estrogens are.
Micronor, Nor-QD, Ovrette, Depo-provera |
|
|
Wanda is 5'3'' and 238 pounds. She has been on birth control for almost 4 years now. She recently found out she was pregnant and wants to know how? (two main reasons)
|
1. her BMI is 42... ew... who had sex with her to begin with?
2. the estrogen can be sequestered in fat, increasing the risk of contraception failure. |
|
|
When is risk of thrombosis risk greatest?
|
During pregnancy and three weeks post partum.
|
|
|
What electrolyte condition must be very carefully monitored with oral contraception pill use?
|
Must check serum potassium levels in women taking OCP especially when they are also taking ACE, ARB, K sparing diuretics, aldosterone antagonists, heparin, K supplements or long term use NSAIDS
Increased serum K can increase risk of thrombosis |
|
|
As a physician, you should consider screening for Factor V Leiden before you prescribe OCP. What is Factor V Leiden and why is it important to screen for?
|
In the normal person, factor V functions as a cofactor to allow factor X to activate thrombin. Thrombin in turn cleaves fibrinogen to fibrin, which polymerizes to form the dense meshwork that makes up the majority of a clot. Activated protein C (aPC) is a natural anticoagulant that acts to limit the extent of clotting by cleaving and degrading factor V. In this disorder the Leiden variant of factor V cannot be inactivated by activated protein C, leading to increased clotting and an increased hypercoagulable state.
Presence of Factor V Leiden increases risk of thrombosis 30 to 50 fold. |
|
|
A woman who recently started an oral contraceptive comes to your office complaining of acne, breast tenderness and depression. What hormone caused these symptoms?
|
Estrogen is responsible for the breast tenderness
Progesterone is responsible for the acne and depression |
|
|
Who is an ideal candidate for the pill?
|
Healthy, nonsmoking woman under the age of 35
|
|
|
A woman who has recently given birth wants to start back up on a contraceptive for the next few years. She is still breast feeding and is wondering if it is safe for her to use a pharmacological contraceptive technique.
|
She can go on the Depo-provera shot or use Implanon
They are safe for breast feeding women |
|
|
How are IUDs effective in preventing pregnancy?
|
IUDs are inserted into the endometrial cavity to prevent implantation and growth of the fertilized egg --> creates a sterile inflammatory response that increases WBCs 1000 fold, inhibiting mobility of sperm so they do not reach the fallopian tube
|
|
|
What contraceptive mechanism would you recommend to a young couple who does not want to start their family for at least 5 years?
|
MIRENA
|
|
|
Devine:
Nullipara Primipara Multipara |
Nullipara- a woman who has never delivered a pregnancy beyond 20 weekd
Primipara- a woman who has delivered one pregnancy beyond 20 weeks Multipara- a woman how has delivered more than one pregnancy beyond 20 weeks |
|
|
What does GTPAL stand for?
|
GTPAL
Gravida- total number of pregnancies Term- number of pregnancies carried beyond 37 weeks Preterm- number of pregnancies delivered between 20-36+ weeks Abortion- number of pregnancies delivered prior to 20 weeks Living- number of living children |
|
|
Breakdown of G5 4106
|
pregnant 5 times
4 delivered at term 1 delivered preterm 0 abortions 6 living children (ie. one set of twins) |
|
|
What is pseudocyesis?
|
Pseudocyesis is a psychological disorder where a woman believes she is pregnant and her body changes to mimic that pregnancy
|
|
|
How are gestational age and developmental age calculated?
|
Gestational age = menstrual age (based on FDLMP)
Developmental age = fetal age (based on FDLMP-2 weeks) |
|
|
What is Nagele's Rule?
|
used to calculate the estimated date of delivery or estimated date of confinement
Subtract 3 months from the last menstrual period and add 7 days |
|
|
What is the most accurate dating measurement from 6-12 weeks?
|
CRL- Crown Rump Length
|
|
|
What is the most accurate dating measurement from 13-22 weeks?
|
BPD- bipareital diameter
|
|
|
What is dating measurement is used from 20-36 weeks?
|
Fundal height
distance from symphysis to fundus |
|
|
Three things definitively diagnose pregnancy. What are they?
|
Auscultation of fetal heart tone
Appreciation of fetal movement Visualization of the fetus |
|
|
What time frame constitutes first trimester? What lab work should you do during this time?
|
The first trimester is conception to 12 weeks
Labs: CBC, ABO/Rh, rubella, Hep B, urinalysis, HIV, Tb, varicella zoster, toxoplasmosis, parvovirus IgG testing |
|
|
What time frame constitutes second trimester? What lab work should you do during this time?
|
Second trimester is 13-26 weeks
Screen for congenital abnormalities Quad Screen- pregnancy hormone, inhibin, estradiol, AFP test for CF, sickle cell, GDM, PTL, kick counts, cord blood collection |
|
|
What time frame constitutes third trimester? What lab work should you do during this time?
|
Third trimester is 26 weeks to delivery
Glucose testing, vaginal Group B strep, gonorrhea, chlamydia (want to make sure everything is clear for a vaginal delivery) |
|
|
What is the definition of labor?
|
rhythmic contracts that cause cervical changes in dilation and/or effacement
|
|
|
What are the four stages of labor?
|
Stage 1: Onset to complete cervical dilation
Stage 2: the pushing phase, complete cervical dilation to delivery of baby Stage 3: delivery of baby to deliver of placenta Stage 4: delivery of placenta to one hour post partum |
|
|
What are the main three P's?
Additional two? |
Power: labor must develop as a series of rhythmic contractions such that a net vector force is out; power needs to be enough to do the job until delivery, when it isn't, we need to consider augmentation or c section.
Passenger: The size and position of the baby are crucial factors in assuring a vaginal delivery Pelvis: bone cannot change to accommodate the baby; the best chances for a normal vaginal delivery is a woman with a GYNECOID pelvis (round to slightly oval) Other P's include placenta and psychology |
|
|
How can we tell if the amniotic sac has ruptured?
|
1. pooling of amniotic fluid on speculum exam
2. nitrazine testing- vaginal pH is normally acidic, a pH above 7.0 indicates that the amniotic sac has ruptured 3. fern testing- the estrogens in the amniotic fluid cause crystallization of the salts during drying, giving a fern pattern on the microscope slide |
|
|
The progression fro the first stage of labor to the second stage is marked by what change in the cervix?
|
The cervix will have dilated to 10cm
|
|
|
What are the cardinal movements of labor?
|
Don't Forget I Enjoy Really Expensive Equipment
Engagement Descent Flexion Interal rotation Extension Restitution External rotation Expulsion |
|
|
Operative vaginal delivery has many indications. What are the indications and what are the methods that can be used?
|
Indications: prolonged labor, maternal exhaustion, high BP, pulmonary HTN, hx of aneurysm/stroke, fetal distress
Methods: 1. episiotomy- used to speed up second stage by cutting the posterior fourchette and perineum 2. Vacuum- external traction to fetal scalp 3. Forceps- assists with traction of the fetal head and assist with rotation of the head |
|
|
What are the risks involved in an operative vaginal delivery? What methods are used?
|
1. Episiotomy
2. Vacuum 3. Forceps Risks include superficial scalp markings, bruising, abrasions, cephalohematoma (bleeding confined to the space under the fibrous covering of the skull), subgaleal hematoma (bleeding accumulates under the scalp, injuring the veins), intracranial hemorrhage |
|
|
What is the difference between a cephalohematoma and a subgaleal hematoma?
|
cephaloahematoma is bleeding confined to the space under the fibrous covering of the skull
Subgaleal hematoma is bleeding tha taccumulates under the scalp thereby injuring the underlying veins |
|
|
What are the indications for a cesarean section?
|
When vaginal delivery is not feasible or would impose undue risk to fetus or mother, nonreassuring fetal tracing, cord prolapse, malpresentation, multiple gestations, fetal anomalies, cephalopelvic disproportion
|
|
|
What are the risks associated with a cesarean section?
|
hemorrhage
endometritis wound infection damage to uterus, bladder, bowel damage to newborn respiratory distress to newborn post delivery fetal hemorrhage or hypoxia |
|
|
What is the difference between placenta accreta, increta and percreta?
|
Placenta ACCRETA- abnormal ADHERANCE of placenta to uterine wall
Placenta INCRETA- when the placenta INVADES the myometrium Placenta PERCRETA- when the placenta PROJECTS through the myometrium to uterine serosa and adjacent organs |
|
|
What is fetal bradycardia? What can cause this?
|
Fetal bradycardia is any fetal heart rate with a baseline below 120
Can be seen in association with maternal B blocker, hypothermia, hypoglycemia, hypothyroidism or fetal cardiac conduction defects (CMV) |
|
|
What is fetal tachycardia? What can cause this?
|
Fetal tachycardia is any fetal heart rate with a baseline above 160
Can be seen as a result of decreased vaga or increased sympathetic outflow, associated with fever, infection, fetal anemia, or fetal hypoxia, or maternal hyperthyroidism |
|
|
Variability in the fetal heart rate results from constant interplay between the sympathetic and parasympathetic nervous system. What is normal: short term variability or long term variability?
|
a combination of both!
|
|
|
What are accelerations? What is the etiology?
|
Accelerations are increased heart beats due to increased catecholamine release and decreased vagal stimulation of the heart (they will deflect upward on monitor)
Accelerations in the fetal heart rate occur with 90% of fetal movements as early as the second trimester IF STIMULATION FAILS TO PROVOKE AN ACCELERATION, THINK HYPOXIA!!! |
|
|
What are decelerations? What is the etiology?
|
Three types of decelerations:
1. Early decelerations- shallow, symmetric, uniform downward deflections at the same time as the contraction due to HEAD COMPRESSION 2. Late Decelerations- gradual onset right after the onset of contraction; due to uteroplacental insufficiency and FETAL HYPOXIA 3. variable decelerations- abrupt and angular (v shaped) appearance that have a variable temporal relationship to the contractions; due to UMBILICAL CORD COMPRESSION |
|
|
What is a nonstress test of fetal wellbeing?
|
just hook up and see if the fetal accelerations are in tune with the fetal movement
this is typically done in late pregnancy |
|
|
What is the most common complication of pregnancy? How do you work this up and manage it?
|
Spontaneous Abortion- the passing of a pregnancy prior to completion of the 20th gestational week
Workup includes- CBC, hCG counts, daryotype of parents, test for maternal problems likw diabetes, thyroid disease, vascular proglems, thrombophilia ect |
|
|
What are the 5 types of abortions?
|
Complete Abortion- complete expulsion of pregnancy tissue
Incomplete Abortion- partial expulsion of products of conception Inevitable Abortion- no expulsion yet, but bleeding and dilation of cervix Threatened Abortion- any vaginal bleeding due to intrauterine source Missed Abortion- death of fetus without symptoms or expulsion of products of conception |
|
|
Where is the most common site of ectopic pregnancy? What is an ectopic pregnancy?
|
95% of ectopic pregnancies occur in the fallopian tube
Ectopic pregnancies are when a fertilized ovum implants in an area other than the endometrial lining of the uterus |
|
|
A 27 year old sexually active female comes in complaining of pelvic pain. As she is getting checked in to the emergency room, she suddenly faints. What should be the first thing that jumps to your mind?
|
ECTOPIC PREGNANCY
95% of them occur in the fallopian tubes |
|
|
What is the definition of preterm labor? What is the number one cause of preterm labor?
|
Preterm labor is defined as contractions that are regular at frequent intervals with cervical dilation and effacement prior to 37 weeks
Preterm rupture of membranes is a major cause of preterm labor |
|
|
What numeric Glucola test confirms gestational diabetes? Why is this a problem?
|
Gestational diabetes is any degree of glucose intolerance with onset or first recognition during pregnancy
1 hour glucola testing greater than 130-140 GD can lead to increase in miscarriages, congenital malformations, PTD, pyelonepritis, preeclampsia, meconium stained fluid, fetal heart changes, excessive growth, stillborn... |
|
|
What is the difference between mild preeclampsia, severe preeclampsia and eclampsia?
|
Mild preeclampsia- BP>140/90, proteinuria >300mg, edema
Severe preeclampsia- BP>160/110, proteinuria >1gm, headache, right upper quadrant pain, renal failure Eclampsia- elevated BP with seizures |
|
|
What can be a cause of post partum fever?
|
WIND, WATER, WALKING, WOUND, WONDER DRUGS
Wind- lungs, ie pneumonia Water- indwelling catheter causing UTI Walking- DVT or PE Wound- surgical site infection Wonder Drugs- infections related to IV lines |
|
|
What is the definition of teratogenesis?
|
induction of alterations of somatic cells of a developing organism causing defects in ORGAN SYSTEMS
|
|
|
What effect does protein binding have on fetal drug concentration? What effect does fetal drug metabolism have on concentration?
|
Fetus has lower total plasma protein --> less bound, more free--> more effect
Phase I reactions develop rather quickly (hydroxylation, methylation --> sometimes inactivates drug) Phase II doesn't reach maturity until neonate (gluconridyl reactions inactivate drug) |
|
|
Placental drug transfer is determined by the following factors how?
Placental blood flow Molecular size of the drug Lipid solubility of drug Fetal pH **TQ* |
Placental blood flow increases as the pregnancy continues, more CO goes to the placenta so later in pregnancy, more drug goes to the fetus
Decreased transfer of drug across the placental membrane as molecular size increases Increased transfer of drug across placental membrane as lipid solubility increases Fetal pH is slightly more basic than maternal pH, so more trapping of basic drugs on fetal side **TQ** |
|
|
Tobacco and alcohol are in what category of teratogen? What is the definition of that category?
|
Category X
studies have shown fetal abnormalities or there is evidence of fetal risk based on human experience or both |
|
|
What is the definition of teratogenesis?
|
induction of alterations of somatic cells of a developing organism causing defects in ORGAN SYSTEMS
|
|
|
What are the drug exposure risk categories?
|
Category A- fail to demonstrate a risk to fetus
Category B- no studeis have shown an adverse effect Category C- studies in animals have show adverse effects; suggested but unproven risk in humans; use if risk < benefit Category D- small teratogenic risk Category X- known teratogens that should be avoided entirely (sorryyyyy no heroin) |
|
|
What effect does protein binding have on fetal drug concentration? What effect does fetal drug metabolism have on concentration?
|
Fetus has lower total plasma protein --> less bound, more free--> more effect
Phase I reactions develop rather quickly (hydroxylation, methylation --> sometimes inactivates drug) Phase II doesn't reach maturity until neonate (gluconridyl reactions inactivate drug) |
|
|
Tobacco and alcohol are in what category of teratogen? What is the definition of that category?
|
Category X
studies have shown fetal abnormalities or there is evidence of fetal risk based on human experience or both |
|
|
Please list the drugs he wants us to know are significantly excreted in breast milk.
|
Chloral hydrate
Chloramphenicol Diazepam Heroin :( Iodine Lithium Methadone Propyithiouracil |
|
|
What is the most common complication of pregnancy? How do you work this up and manage it?
|
Spontaneous Abortion- the passing of a pregnancy prior to completion of the 20th gestational week
Workup includes- CBC, hCG counts, daryotype of parents, test for maternal problems likw diabetes, thyroid disease, vascular proglems, thrombophilia ect |
|
|
NSAIDs increase the risk of prolonged gestation, prolonged bleeding and premature closure of the ductus arteriosus. How?
|
NSAIDs decrease the synthesis of prostaglandins --> prostaglandins are used to keep the ductus arteriosus open and to help cause contractions
|
|
|
Pregnant women often have to take iron supplements later in pregnancy. The unfortunate side effect of iron is that it makes nausea worse. How can you treat the nausea and vomiting?
|
PremesisRx- vitamin B6, B12, folic acid and calcium carbonate
|
|
|
What is the most common complication of pregnancy? How do you work this up and manage it?
|
Spontaneous Abortion- the passing of a pregnancy prior to completion of the 20th gestational week
Workup includes- CBC, hCG counts, karyotype of parents, test for maternal problems likw diabetes, thyroid disease, vascular proglems, thrombophilia ect |
|
|
Please categorize:
DES Thalidomide Phenytoin Warfarin OH Methotrexate What drugs are these and what do their categories mean? |
Category D- positive evidence of human fetal risk. Includes Phenytoin (antiepileptic), warfarin (oral anticoagulant), methotrexate (antifolate)
Category X- known teratogens that cause birth abnormalities. Includes DES (nonsteroidal synthetic estrogen- DES daughters have vaginal tumors), thalidomide (sedative- causes phocomelia), alcohol (fetal alcohol syndrome, holoprosencephaly) |
|
|
What type of analgesic would you prescribe to a pregnant woman?
|
Acetaminophen (COX 2 inhibitor) is the best choice
NSAIDs can increase the risk of misscarriage at the beginning of pregnancy |
|
|
What are the 5 types of abortions?
|
Complete Abortion- complete expulsion of pregnancy tissue
Incomplete Abortion- partial expulsion of products of conception Inevitable Abortion- no expulsion yet, but bleeding and dilation of cervix Threatened Abortion- any vaginal bleeding due to intrauterine source Missed Abortion- death of fetus without symptoms or expulsion of products of conception Missed Abortion |
|
|
Where is the most common site of ectopic pregnancy? What is an ectopic pregnancy?
|
95% of ectopic pregnancies occur in the fallopian tube
Ectopic pregnancies are when a fertilized ovum implants in an area other than the endometrial lining of the uterus |
|
|
Pregnant women often have to take iron supplements later in pregnancy. The unfortunate side effect of iron is that it makes nausea worse. How can you treat the nausea and vomiting?
|
PremesisRx- vitamin B6, B12, folic acid and calcium carbonate
|
|
|
A 27 year old sexually active female comes in complaining of pelvic pain. As she is getting checked in to the emergency room, she suddenly faints. What should be the first thing that jumps to your mind?
|
ECTOPIC PREGNANCY
95% of them occur in the fallopian tubes |
|
|
NSAIDs increase the risk of prolonged gestation, prolonged bleeding and premature closure of the ductus arteriosus. How?
|
NSAIDs decrease the synthesis of prostaglandins --> prostaglandins are used to keep the ductus arteriosus open and to help cause contractions
|
|
|
Pregnant women often have to take iron supplements later in pregnancy. The unfortunate side effect of iron is that it makes nausea worse. How can you treat the nausea and vomiting?
|
PremesisRx- vitamin B6, B12, folic acid and calcium carbonate
|
|
|
A 27 year old sexually active female comes in complaining of pelvic pain. As she is getting checked in to the emergency room, she suddenly faints. What should be the first thing that jumps to your mind?
|
ECTOPIC PREGNANCY
95% of them occur in the fallopian tubes |
|
|
What is the definition of preterm labor? What is the number one cause of preterm labor?
|
Preterm labor is defined as contractions that are regular at frequent intervals with cervical dilation and effacement prior to 37 weeks
Preterm rupture of membranes is a major cause of preterm labor |
|
|
What numeric Glucola test confirms gestational diabetes? Why is this a problem?
|
Gestational diabetes is any degree of glucose intolerance with onset or first recognition during pregnancy
1 hour glucola testing greater than 130-140 GD can lead to increase in miscarriages, congenital malformations, PTD, pyelonepritis, preeclampsia, meconium stained fluid, fetal heart changes, excessive growth, stillborn... |
|
|
What is the difference between mild preeclampsia, severe preeclampsia and eclampsia?
|
Mild preeclampsia- BP>140/90, proteinuria >300mg, edema
Severe preeclampsia- BP>160/110, proteinuria >1gm, headache, right upper quadrant pain, renal failure Eclampsia- elevated BP with seizures |
|
|
What can be a cause of post partum fever?
|
WIND, WATER, WALKING, WOUND, WONDER DRUGS
Wind- lungs, ie pneumonia Water- indwelling catheter causing UTI Walking- DVT or PE Wound- surgical site infection Wonder Drugs- infections related to IV lines |
|
|
At what age is adult renal function attained?
|
1 year
|
|
|
How do you calculate dose adjustments for kids based on:
1. age 2. weight |
AGE
dose = adult dose x age/(age+12) WEIGHT dose = adult dose x (weight (lb)/150) |
|
|
What is the inheritance pattern of X linked recessive genes? What are some examples of X linked recessive disorders?
|
The X gene carries the mutation, so all males who recieve the gene are affected, females can be carriers
Classic X linked recessive genes are: affected grandfather --> passed through carrier mom --> affected grandson Examples include hemophilias, G6PD, Duchennes, X-SCIDS, Charcot Marie Tooth |
|
|
What is the inheritance pattern of X linked dominant genes? What is an example?
|
The X gene carries the mutation, so females with one copy are affects, all males are affected if they have the mutation
Twice as many females as males areaffected, never passed from father to son, always passed from affected father to daughter, passed from affected mother to half her children Example: fragile X syndrome |
|
|
What is the inheritance pattern of mitochondrial inheritance?
|
MATERNAL INHERITANCE
never from father to any of his children |
|
|
What is the inheritance pattern of sex-influenced traits? What are some examples?
|
genetic traits whose phenotypes are influenced by the sex of the individual
Autism (worse and more common in males) Congenital hip dysplasia (worse in females) Autosomal dominant polycystic kidney disease |
|
|
What is the inheritance pattern of sex limited traits? What are some examples?
|
Traits restricted to one sex, although the genotype can be present in either sex
BRCA1 related breast CA in females and prostate cancer in males; BRCA 2 in males related to breast cancer 5a-reductase deficiency in males have ambiguous genetalia (females are normal) |
|
|
What is X inactivation?
|
process by which one of the two copies of the X chromosome present in females is inactivated. X-inactivation occurs so that the female, with two X chromosomes, does not have twice as many X chromosome gene products as the male, which only possess a single copy of the X chromosome. The choice of which X chromosome will be inactivated is random.
Mesodermal and endodermal cells are mixed, ectoderm has patches |
|
|
If you have the SRY region of the Y chromosome, your sex is...
|
MALE
|
|
|
Primordial germ cells migrate to the primary sex cords (genital ridge) to give rise to either spermatogonia or oogonia. Why would developmental problems at this stage affect the adrenal glands?
|
The adrenal gland and the genital ridge develop in very close proximity.
|
|
|
How does the urogenital ridge differentiate into an XY embryo?
|
urogenital ridge --Wt1--> bipotential gonad --XY--> SRY activation --(+)--> SOX9 ----> Sertoli cell differentiation and proliferation
Sertoli cells produce: 1. AMH to regress mullerian ducts (paramesonephric) and promote testicular descent 2. DHH desert hedge hog to promote Leydig cell differentiation --> testosterone procution --> masculinization of genitalia and development of Wolffian ducts |
|
|
How does the urogenital ridge differentiate into an XX embryo?
|
urogenital ridge --Wt1--> bipotential gonad---->Wnt4
Wnt4: 1. induces B-catenin which turns off SOX9 and FGF9 (therefore blocking male development) 2. induces DAX1 which represses AMH (therefore blocking male development) |
|
|
The genital tubercle becomes what in the male and female?
|
The genital tubercle becomes the clitoris in the female and the penis in the male
|
|
|
What does the urethral fold become in the male and female?
|
Labia minora in females
fuse caudally in development of urogenital system in males |
|
|
What do the labioscrotal swellings become in the male and the female?
|
Labia majora in females
Scrotum in males |
|
|
What is cryptorchidism?
What is the most common place for ectopic testes? Least common? |
Failure of the testicles to descend --> 4-5 times more likely to get testicular cancer
Suprascrotal is most common Intra-abdominal is least common |
|
|
How will a patient with 21 Hydroxylase deficiency present? Where is the deficiency located?
|
Gene is located on the short arm of chromosome 6
Reduction in cortisol and aldosterone with increased production of progesterone and sex steroids Decreased secretion of aldosterone results in salt loss with hyponatremia and hyperkalemia --> plasma renin is therefore elevated Exogenous androgens causes virilization of girls and ambiguous genetalia and dark scrotum in boys |
|
|
How will a patient with 11 B Hydroxylase deficiency present? Where is the genetic defect?
|
11 B OH is needed for the conversion of deoxycorticosterone to corticosterone and aldosterone --> low serum levels of aldosterone, but still have high levels of deoxycortocosterone --> because deoxycorticosterone is a strong mineralocorticoid, the condition is characterized by salt retention, hypertension and hypokalemia
Still have the majority of things shunting over to produce more cortisol and androgens --> virulization of female fetus on chromosome 8 |
|
|
How will a patient with 17 a Hydroxylase deficiency present? Where is the genetic defect?
|
On chromosome 10
Will see low androgens and cortisol and high levels of aldosterone --> salt retention, hypertension, hypokalemia Androgens are low so you won't see virilization in females but you will see ambiguous genitalia in males |
|
|
How will a patient with 3 B H steroid hydrogenase deficiency present?
|
results in accumulation of DHEA, which is converted to testosterone in peripheral tissues--> virilization of female fetus, leading to ambigious genetalia
|
|
|
What is treatment for CAH?
|
Treatment is life-long
Pt needs to be on long term glucocorticoids (hydrocortisone) three times/day--> dose should be doubled in a crisis mineralocorticoids (fludrocortisone) to restore the sodium-potassium balance |
|
|
What is the prognosis for children with congenital adrenal hyperplasia?
What is the most morbid complication? |
Good prognosis
they are at an elevated risk for developing mesodermal tumors (osteogenic sarcoma, pulmonary liposarcoma, uterine leimyomata and brain tumors) **TQ** |
|
|
What group has the most unplanned pregnancies?
|
perimenopausal women
|
|
|
Men and women typically have different styles of love. What are the 6 styles of love and which are expressed by predominately men or women?
|
Styles of Love:
1. Eros- tactile, WOMEN 2. Mania- obsessive and posessive love rollercoaster 3. Ludue- playful love, MEN 4. Agape- brotherly love 5. Storge- love between companions 6. Pragma- practical, businesslike love, WOMEN |
|
|
What is Sternberg's Triangular Theory of Love?
|
There are three basic components to love:
Liking (intimacy) Infatuation (passion) Commitment In order for relationships to experience the most love, they must have a combination of all three |
|
|
Some patients will use love as attachment. What are some examples?
|
Infant/Caregiver Attachment
Anxious/Ambivalent Attachment Avoidant Attachment |
|
|
Masters and Johnson did an observational study of the sexual response and came up with a four stage model. Please describe this model.
|
Excitement
Plateau Orgasm Resolution |
|
|
Please describe the Male Sexual Response.
|
Excitement- myotonia (increased muscle tension), erection, testes elevate, secretions from Cowper's glands
Plateau- color of pene changes, prostate enlarges, circumference increases, scrotum tenses, Cowper's glands still active Orgasm- vas deferens contracts, internal sphincter of bladder contracts, seminal vesicles contract, prostate contracts, penis contracts, something called 'sex flush' Resolution- refractory, erection subsides, scrotum thins, sex flush disappears |
|
|
Woman comes in with Stage IV breast cancer. To help her emotionally deal with her situation, you must...
|
Teach her how to masturbate. It solves everything. Apparently. She probably wasn't doing it right in the first place, so she developed cancer.
|
|
|
Please describe the Female Sexual Response.
|
Excitement- v lubrication, labia minora engorge, nipple enlargement, muscle tension, v increases in length, width, walls darken
Plateau- clitoral length decreases and it retracts under the hood, v becomes more engorged Orgasm- 8-10 rhythmic contractions, intense release of muscle tension, brief loss of consciousness, myotonia (clawing), female ejaculation Resolution- euphoria, relaxation, quick return to prestimulated state |
|
|
What is sexual dysfunction?
What issues can be the culprit? |
a disturbance in sexual desire and in teh psychophysiological changes that characterize the sexual response cycle and cause marked distress and interpersonal difficulty
Caused by EVERYTHING: distraction, anxiety, pharmacological issues, physical issues, disabilities, hypoactive sexual disorder (most common problem among American couples), sexual aversion disorder, female sexual arousal disorder, ED, orgasmic disorders, premature ejaculation, vaginismus (can't get pene in because the muscles are so contracted), dysparenunia (painful sex) |
|
|
What is the difference between transgender and transsexuality?
|
Transgender- person who thinks they were born in the wrong body
Transsexual- people who feel that they are born in the wrong body and watn to change their sex to match their sexual identity by seeking sex reassignment |
|
|
What is the definition of a non-coercive paraphilia?
What broad categories does this include? |
Paraphilias are recurrent, intense, sexually arousing fantasies, urges and behaviors that last more than 6 months
Non-coercive paraphilias are regarded as benign and victimless and includes --> fetishes, partialism and transvestism |
|
|
Fetishism, Partialism and Transvestism are non-coercive paraphilias. Please describe them.
|
Fetishism- recurring fantasies in which there is sexual attraction to objects
Partialism- sexual attraction to a specific body part Transvestism- wearing clothing of the opposite sex for sexual arousal |
|
|
What is meant by coercive paraphilia?
What is the most common form? |
Coercive paraphilia involves victimization, nonconsensual relationships and criminal acts
Exhibitionism is the most common form of coercive paraphilia- exposure of genitals to unsuspecting victims |
|
|
List some examples of coercive paraphilias?
|
zoophilia
voyeurism frotteursim telephone scatologia necrophilia coprophilia urophilia klismaphilia troilism exhibitionism pedophilia hypoxphilia |
|
|
How can we treat patients with paraphilic behaviors?
|
cognitive behavior therapy- recognize and control throughts leading to arousal
Couples/Group therapy- discuss it Behavioral therapy- techniques aimed at reducing/stopping behavior Sexuality education SAA SSRIs |
|
|
Sexual harassment requires two main elements. What are they?
|
Abuse of power for sexual ends
Creation of a hostile environment that interferes with a persons employment or performance |
|
|
What is heterosexual bias? Who is at an increased risk for antigay prejudice? What are some sources of anti-gay prejudice?
|
Heterosexual bias is ignorance of the existance of homosexuals, segregation and unequal representation.
Lesbian women are at an increased risk for antigay prejudice. Prejudice originates from deeply rooted insecurity concerning persons own sexuality and gender identity, religious orientation and ignorance. |
|
|
What is the age of consent in WV?
|
16
If you are older than 16 and you are having sex with someone younger than 16, you are commiting a crime... and when you go to jail... you have a 28% chance of being raped in prison. |
|
|
What are the initial and long terms effects of child abuse?
|
Initial: emotional disturbances, physical disturbances, social disturbances
Long term: depression, self destruction, negative self concept, recidivism, sexual dysfunction, relationshiop difficulties, trauma |
|
|
What is Megan's Law?
|
Requires notificaiton of sex offenders in the community. School, daycare centers and youth groups are notified
|
|
|
What are our responsibilites are physicians when it comes to child abuse?
|
We are obligated to report even the suspicion of abuse to the Department of Health and Human Resources within 48 hours
Failure to report it can result in 10 days to 5 years in jail and a fine of $100-$5,000 dollars |
|
|
A 73 year old man presents to your office with complaints of excessive tiredness and disinterest of activities he used to enjoy. You decide to put him on fluoxetine. What type of drug is this and what should you tell him some possible side effects are?
|
Fluoxetine is an SSRI
It can lead to erectile dysfunction and loss of libido |
|
|
How is sexual function affected as women age?
|
Decreased vaginal lubrication
Delay in arousal Thinning of vaginal mucosa Decreased vaginal length and tone Decrease clitoral size (wah) Decreased estrogen levels |
|
|
How is sexual function affected as males age?
|
Reduced semen volume
Need more stimulation to achieve and maintain erection Weaker orgasm (wah) Prolonged refractory period Testosterone declines 1% per year after the age of 30 |
|
|
What is the major sexual dysfunction for women as they age? What about men?
|
As women age, their major sexual dysfunction is lack of interest.
As men age, their major sexual dysfunction is premature ejaculation. |
|
|
A patient with BPH has opted to recieve a total prostatectomy. What should you tell him may happen to his sexual function?
|
Prostatectomy can produce retrograde ejaculation ie. no jizz
|
|
|
Drugs can have a ton of sexual side effects in men and women. List a fewwwww.
|
Men- impaired spermatogenesis, testicular disorders, penil disorders, gynecomastia, feminization
Women- change in libido, impaired arousal and orgasm, breast enlargement, galactorrhea, virilization |
|
|
Male patient comes in asking for medication to treat his erectile dysfunction. You want to prescribe tadalafil. What pharmacologic contraindication must you ask about?
|
Tadalafil as a PDE5 inhibitor
Cannot be taken if the patient is taking NITRATES |
|
|
What medications can you prescribe for sexual dysfunction associated with depression?
|
Bupropion
Buspirone |
|
|
What is meant by category C therapy?
|
GIVE ADIVICE
dry v? lube 'em up not interested? get 'em frisky can't get it up? get a BJ first |
|
|
Duchenne Muscular Dystrophy has an incidence of 64/10,000 in women. What is the incidence in men?
|
Duchenne Muscular Dystrophy is an X linked Recessive trait.
64/10,000 in women (they need both traits) 0.08 in men (they only need one trait) |
|
|
If two normal people marry, but both carry a mutation in UV specific endonuclease, what are the chances that their offspring will be a carrier? What disease process are we talking about?
|
UV specific endonucleases are mutated in Xeroderma Pigmentosum
XP is an autosomal recessive gene Pp x Pp 1:2:1 Carrier would 2/3 chance |
|
|
What type of inheritance pattern does Cystic Fibrosis have? What other diseases share this inheritance pattern?
|
Cystic Fibrosis is AR
So is sickle cell anemia, Tay-Sachs, PKU, Hurler syndrome, Xeroderma Pigmentosum |
|
|
What is anticipation? Which diseases share this characteristic?
|
Anticipation is the progressive worsening of the disease with each generation.
Myotonic Muscular Dystrophy Huntington Disease Fragile X Syndrome |
|
|
Bubble boy syndrome is due to a mutation in what?
What is this syndrome called? What other syndromes share its mechanism of inheritance, specifically locus heterogeniety? |
Bubble boy syndrome is known as Sever Combined Immuno Deficiency Syndrome (SCIDS) due to a mutation in adenosine deaminase
It exhibits locus heterogeniety- variations fo teh disease hasve the same phenotype, but different locus mutations. Shared with OI, Ehlers Danlos, Charcot Marie Tooth, Familial Parkinsons, Leber Optin Neuropathy |
|
|
Generally, what additional calorie intake is required for pregnancy? Lactation?
|
Pregnancy- additional 300Kcal/day
Lactation- additional 600Kcal/day |
|
|
What women are at the biggest risk for preterm delivery?
|
Underweight women
|
|
|
When is folic acid the most necessary during pregnancy? Why is this such an issue?
|
Folic Acid deficiencies are most serious in early pregnancy (24-48 days post conception) because without it, there can be severe damage to the neural tube.
This is such a problem because during this time, most women don't know they are pregnant! Council all women of reproductive age. |
|
|
Vitamin A is a teratogen. Just know that it is.
|
MAC IS :)
|
|
|
Magnesium supplementation may aide in:
|
Maintaining length of pregnancy (maternal serum Mg may be a marker for preterm delivery)
Decreasing hypertensive potential |
|
|
What is meant by 'biologically immature'? What vitamin dosage must be changed in pregnancy to account for biological immaturity?
|
A woman is biologically immature if she is less than 4 years post menarche
Calcium supplements must get bumped up from 1200 to 1600 if biologically immature |
|
|
Pregnant women should avoid eating unpasterized milk, raw meat and shellfish to avoid listeriosis. What organism is responsible? G positive or negative?
|
Listerosis is a bacterial infection caused by Listeria monocytogenes
Gram positive, facultative anaerobe |
|
|
What are the benefits of breast feeding a baby?
What immunoglobulin can cross in the breast milk? What about the placenta? |
Complete nutrition
Proper protein content Immunity (IgA crosses in milk) More easily digested IgG crosses the placenta |
|
|
What is an infant contraindication to breast feeding? What is the pathogenesis of this condition? What are the symptoms of this condition?
|
Galactosemia
Classic galactosema is d/t the absense of galactose 1 phosphate uridyltransferase, leading to accumulation of galactose 1 phosphate and galacticol Ssx: FTT, jaundice, cataracts (galacticol accumulates in lens), MR tx: exclude galactose and lactose from diet --> stop breast feeding |
|
|
How much weight can a neonate lose before it is considered abnormal?
|
If there is more than 10% birth weight loss, that is a red flag!!!
|
|
|
At what stage MI is the patient at greatest risk for free wall fupture, tamponade, papillary m rupture, interventricular septal rupture? How is this stage characterized microscopically?
|
Stage III: 5-10 days
Will see infiltration of MACROPHAGES |
|
|
What is the biggest issue associated with malformations such as epispadias? What is epispadias?
|
Epispadias is when the urethral opening is on the dorsal surface of the penis.
Malformations carry an increased risk of UTI and infertility. DO NOT CIRCUMSIZE THESE LITTLE GUYS! |
|
|
Sexually active male presents with diffuse warty, cauliflower like growths on his penis. What is it and what virus is it associated with?
|
Condyloma acuminatum
Associated with Human Papilloma Virus (HPV) types 6 and 11 |
|
|
An uncircumsized male presents with a reddish-tan ulcerated lesion on his penis. What is it and what virus is it associated with?
|
Squamous cell carcinoma
Increased risk in uncircumsized males Associated with Human Papilloma Virus (HPV) 16 and 18 |
|
|
A 67 year old African American male presents to your office complaining of difficulty starting and stoping urination. He also states that he has to get up at night to urinate. You suspect benign prostatic hypertrophy, so you perform a DRE and PSA.
If it is benign prostatic hypertrophy, you must explain to this patient what is going on and what he can expect from the condition. Please address: definition pathogenesis complications prognosis possible treatment regimens |
BPH is glandular and stromal hyperplasia resulting in prostate enlargement.
Androgens (sp. activated testosterone) play the major role in enlarging the prostate. Complications include frequent UTI, bladder trabeculationa nd diverticula formation, hydronephrosis and renal failure. Treatments include transurethral resection of the prostate if it is not responsive to pharmacologic therapy. Pharmacologic therapy is usually a 5 alpha reductase inhibitor, like Finasteride. Prognosis- BPH is extremely common, especially with advanced age. BPH itself is NOT premalignant. |
|
|
Where are the most common locations of prostate cancer metastasis?
What lab would you look at to check for metastasis? |
Commonly goes to the obturatory and pelvic lymph nodes.
Osteoblastic bone metastasis to the lumbar spine. Alkaline phosphatase is elevated with metastasis. |
|
|
What is cryptorchidism? What is the number one cause? If you fix it, will it give the patient any other problems later in life?
|
Cryptorchidism is undescended testicles.
Most have no known cause. Even when corrected quickly, there is a 5-10 fold increase of testicular cancer in either testis. May also get an inguinal hernia later on. |
|
|
Inflammation of the testis is often associated with urinary tract infection. The organisms causing testicular inflammation vary with age. What organism is most common in:
pediatrics men less than 35 older men |
Pediatrics- gram negative rods (like E.coli)
Men less than 35- chlamydia and gonorrhea Older men- E.coli, pseudomonas |
|
|
Testicular inflammation from gonorrhea, TB and syphilis all follow their own distinct, characteristic pattern of inflammation. Please describe them.
|
Gonorrhea- infection usually originates in posterior urethra to prostate and spreads to the testes when untreated
TB- usually begins in the epididymis and may spread to the testes syphilis- testes are involved first, you will see 'perivascular infiltrate of round cells' |
|
|
15 year old boy presents to the ER with acute onset of severe scrotal pain. What's going on?
|
TESTICULAR TORSION
Secondary to twisting spermatic cord with venous obstruction Usually occurs with some other anomaly He needs IMMEDIATE surgical intervention... unless you have the hots for Schlime, Schlime and Schlime |
|
|
What is the most common germ cell tumor of the testes?
|
Seminoma- usually peaks in patient's 30s
|
|
|
What is the difference between ovarian and testicular teratomas?
|
Ovarian teratomas are BENIGN
Testicular teratomas are MALIGNANT |
|
|
For how long after a transdermal estrogen patch is removed is a woman protected?
|
As long as the patch is replaced within 48 hours, she should be fine.
|
|
|
What is the cause of genetic mosaicism?
|
Mitotic nondysjunction in the blastomere
|
|
|
A child was delivered full term. However, the baby was a stillborn and exhibited syndactyly of the third and fourth digits and microsomia. A karyotype was performed. What would you expect to see? What is the underlying cause of the majority of cases?
|
Triploid Newborn
Usually caused by polyspermy (most often dispermy) |
|
|
Down's syndrome frequently presents with congenital heart disease. What malformations do we most commonly see?
|
40% of children with Down's have congenital heart defects. 1/3 are atrioventricular canal, 1/3 are VSD.
Cardiac malformations cause 2/3 of Down infant mortality before one year. |
|
|
What are the physiologic uses of oxytocin?
What are the pharmacological uses? |
Oxytocin is secreted from the posterior pituitary in response to stimulation by the PVN in the hypothalamus.
It is responsible for milk ejection and uterine contraction during labor. Can be used pharmacologically to stimulate oxytocin receptors to increase frequency and force of contraction in the term pregnant uterus. |
|
|
Which prostaglandins are used as oxytocics?
Please describe their clinical use and their side effects? |
PGE 2, PGH2 and misoprostol will stimulate contraction of both the pregnant and nonpregnant uterus.
Side effects include NVD |
|
|
Which ergot alkaloids are used as oxytocics? Please explain their clinical use and their side effects?
|
Ergot alkaloids are natural produces from fungi
Ergonovine and methyergonovine are used in pregnancy as oxytocics to increase force and frequency of uterine contraction. Side effects include NVD, thirst, tingling, cold extremities and gangrene in the chronic user (d/t vasoconstriction in extremities) |
|
|
What is the route of administration, onset and duration of action of oxytocin?
|
Oxytocin is administered via IV.
It has a quick onset of action, but a short duration. It is used mainly to induce labor. |
|
|
What is the route of administration, onset and duration of action of prostaglands used as oxytocic agents?
|
Prostaglandins can be administered via IV.
They have a slow onset of duration but last for a medium amound of time. They are usually used in 2nd trimester abortions and the induction of labor? |
|
|
What is the route of administration, onset and duration of action of ergonovine?
|
Ergonovine can be administered by either an injection or PO. IT has a quick onset of action and a very long duration. It is used normally to DECREASE POST PARTUM BLEEDING (constriction of vascular smooth muscle). It also used to stimulate post partum contraction of the uterus (to deliver the placenta)
|
|
|
What is sildenafil? What is it used for? Side effects?
|
Sildenafil is a 5-a-reductace inhibitor, the enzyme that inactivates cGMP. With the prolonged action of cGMP, vascular smooth muscle can relax and maintain erection.
Side effects include: excessive friskiness, bathing in odd places, headache, flushing, dyspepsia and a bluish tinge to vision. |
|
|
Tadalafil must be avoided in what types of patients?
What side effects could occur if a patient was on doxazosin for his BPH? |
Tadalafil must be avoided in patients taking nitrates.
Patients taking alpha blockers for BPH may experience postural hypotension and dizziness. |
|
|
Ritodrine, terbutaline, magnesium sulfate, indomethacin and nifedipine can be used to inhibit premature labor. How?
What constitutes premature labor when we would want to use these drugs? |
ritodrine and terbutaline are B agonists --> inhibit uterine contractions
magnesium sulfate --> natagonism of calcium required for uterine contraction Indomethiacin is a prostaglandin synthesis inhibitor Nifedipine- CCB magnesium sulfate |
|
|
What is alpostadil?
|
Prostaglandin that acts as a direct vasodilator to maintain erection. Inject it right into the wang/willie/weenie/schlong/penis/pizzle/bald headed yogurt slinger/bologna pony/dick/doinker/D/D train/knob/LongDongSilver/meat popsicle/schwartz...
|
|
|
What is the difference between premature and preterm rupture of membranes? What membrane are we talking about?
|
Amniotic sac
Premature rupture of membrane- repture 1 hour prior to onset of labor Preterm rupture of membrane- rupture of membranes prior to 37 weeks |
|
|
What is an important sequelae of premature rupture of membranes?
|
Chorioamnionitis
If rupture occurs less than 26 weeks, can cause pulmonary hypoplasia and limb positioning defects |
|
|
What is the most common infection postpartum?
How can you diagnose this? |
Endometritis
Fever is the hallmark sign with diffuse uterine tenderness |
|
|
Which analgesic is safest in pregnant females?
|
Acetminophen!
NSAIDs increase the risk of miscarriage. At the end of pregnancy, they also increas the risk of prolonged gestation, prolonged labor, increased bleeding, fetal renal toxicity, and premature closure of the ductus arteriorus. |
|
|
A mother brings her 3 month old son because he is getting sick all the time (like bone marrow suppression sick). When you ask her if she is breast feeding she replies YES. What drug is she probably on? What is the mechanism of action of this drug?
|
Chloramphenicol --> inhibits 50s
Babies don't have gluconryl transferase activity, so chloramphenicol builds up. |
|
|
A new mother brings in her 4 month old child because she has noticed that he is floppy, tired, constipated and has a growth in his midline neck. When you ask her if she is breast feeding, she says YES. The mom has bug eyes, is very skinny and seems very nervous. What is she probably on? What is the mechanism of action of this drug?
|
Mom is probably on propylthiouracil and it has crossed into the breast milk.
Propylthiouracil is a thioamide that inhibits TPO and inhibits the conversion of T4 to T3 in peripheral tissue. |
|
|
What drug would be safer to use in children, a drug eliminated by Phase I or Phase II?
|
A drug eliminated by Phase I
|
|
|
Sexuality is different in just about every single culture. What sexual activity is taboo across ALL cultures?
|
Incest
Another cross culture similarity is that sex is for procreation |
|
|
Master's four stage sex model left out one important thing that Kaplan later discovered and incorporated into the model.... what was it?
|
DESIREEEEEEEEE
ohhhhhh give it tuh meh bayyyyyybah |
|
|
What is the mechanism of action of tadalafil?
|
Tadalafil inhibits phosphodiesterase 5, the enzyme which inactivates cGMP... cGMP mediates relaxation of vascular smooth muscle responsible for erection
|
|
|
A woman comes in to your office because she becomes physically ill everytime she and her partner start to get close. She feels nauseated, starts sweating uncontrollably and feels like she is having a panic attack. After a sexual history, you learn that she was sexually assaulted three years prior. What disorder is she suffering from?
|
Sexual Aversion Disorder
|
|
|
Please identify the following:
1. epistadias 2. hypospadias 3. balanitis 4. peyronie's disease 5. condyloma acuminatum |
1. epistadias is when the urethral opening is on the doral surface of the penis
2. hypospadias is when the urethral opening is on the ventral surface of the penis 3. balanitis is inflammation of the gland penis caused by poor hygiene and LACK of circumcision 4. peyronie's disease- fibrosis of the penis resulting in hook dick 5. condyloma acuminatum |
|
|
Males who are born with congenital penile deformities are at a higher risk for what?
|
Increased risk of UTI
|
|
|
What is BPH? How does it commonly present?
Complications? Treatment? |
Glandular and stromal hyperplasia resulting in an enlarged prostate.
Patient usually comes in complaining of weak stream, hesitancy, urinary retension and nocturia. Although it is not premalignant, it still has a whole host of associated problems including UTI, diverticula formation and hydronephrosis 5 a reductase inhibitors can shrink the prostate |
|
|
Testicular germ cell tumors include seminomas, embryonal carcinomas, yolk sac tumors and choriocarcinomas.
Which is: 1. most common in infants and children 2. is the most malignant 3. has focal hemorrhage lesions |
1. most common in children- yolk sac tumor
2. most malignant- choriocarcinoma 3. focal hemorrhage- embryonal carcinoma |
|
|
Prostate cancer most commonly metastasizes to...
Testicular cancer most commonly metastasizes to... |
Prostate cancer most commonly metastasizes to the lumbar spine
Testicular cancer most commonly metastasizes to the lungs via para-aortic nodes |
|
|
35 year old woman has been trying to get pregnant for years, unsuccessfully. She presents to your office for help. After history, you note that she has abnormal bleeding and urinary frequency. What neoplasm would you be concerned about? On biopsy, what would it look like?
|
Leiomyoma- benign smooth muslce neoplasm of the myometrium
Sharply circumscribed, discrete, round, firm, gray tumors; bundles of smooth muscle |
|
|
A 27 year old woman presents to your office with chronic pelvic pain, constipation and dysmenorrhea. Biopsy of the endometrium shows a 'chocolate' cyst. What is going on?
|
Endometriosis
|
|
|
What is the difference between endometriosis and adenomyosis?
|
Endometriosis- presence of endometrial glands and stroma outside the uterus; WILL see 'powder burns'
Adenomyosis- presence of endometrial glands and stroma within the myometrium; will NOT see 'powder burns' |
|
|
What is the difference between a complete and partial mole?
|
Complete mole- no fetal tissue, only a tumor of placental trophoblastic tissue; results from fertilization of an ovum tha thas lost ALL of its chromosomal material
Partial mole- some fetal tissue; results from fertilization of an ovum that has NOT lost its chromosomal material |
|
|
What about the clinical presentation would tip you off that the woman has a mole?
|
Excessive uterina enlargement
'grape like' vaginal bleeding |
|
|
What is the main issue we are concerned about with an invasive mole?
|
Invasive moles refer to complete moles in which villi penetrate deeply into the myometrium and its blood vessels
|
|
|
Woman presents wtih irregular spotting (that is foul smelling). On a hunch, you order a B-hCG and see that she has SKY HIGH levels. What is your diagnosis?
|
Choriocarcinoma
|
|
|
Choriocarcinoma has characteristic widespread metastasis. Where are the most common sites of metastasis?
|
lungs and vagina
|
|
|
The main concern we have about endometrial hyperplasia is the increased risk of what?
|
ADENOCARCINOMA
|
