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41 Cards in this Set
- Front
- Back
Common recessive disorders
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- Sickle cell anemia
- cystic fibrosis - tay sachs - PKU (phenylkeonuria) |
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Common x linked disorders
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- Hemophilia
- duchenne's muscular dystrophy |
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Common dominant disorders
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- Huntington's disease
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cystic fibrosis
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- most common in Europeans
- thick mucus clogs bronchi and pancreatic ducts - chronic resp infections (inactive cilia) and pulm failure |
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tay sachs
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- common in ashkanzi jews
- degeneration of neurons and nervous system - death by 2yoa |
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PKU
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- phenylketonuria
- cannot metabolize phenylalanine - buildup leads to severe mental and physical redardation - avoiding phenylalanine early helps - recessive |
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Huntington's disease
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- uncontrollable muscle contractions between 30y and 50y
- loss of memory and personality - dominant disorder |
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Hemophilia
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- x linked
- lack of clotting factor VII |
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Duchenne musc dystrophy
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- x linked
- replacement of muscle by adipose or scar tissue - often fatal before 20 (due to cardiac) |
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When is the fetus most vulnerable to teratogens?
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- first 8 weeks of gestation
- during organogenesis - may cause gross structural defects |
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fetus is exposed to teratogen at 15 weeks. general effect on baby?
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- after 13 w of gestation, teratogen exposure may cause fetal growth restriction and reduction of organ size
- 1st 8 weeks are most vulnerable |
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What drugs are teratogens
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- alcohol
- ACE inhibitors - carbamazepine (anticonvulsants) - cocaine - warfarin |
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what infections are teratogens
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- cytomegalovirus
- varicella - rubella - syphilis - toxoplasmosis |
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After weeks of exorbitant drinking, a lady realizes that she has been pregnant for the past two weeks. what are the possible effects on the baby?
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- a baby is not susceptible to teratogens for the first two weeks of gestation
- maybe perhaps due to time until implantation and formation of placenta |
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How can one estimate when ovulation will occur?
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- 12-14 days after menses
- LH and FSH influence maturation of graafian follicle until ovulation - this follicular phase lasts for 12-14 days, in line with onset of menses |
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Explain menstrual cycle and relation to ovarian cycle
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Menstrual & Follicular
- start together, new egg/follicle matures (LH, FSH), endometrium is cleaned out - endometrium builds up during proliferative phase - lasts 12-14 days Ovulation - egg is released. LH surge. Luteal & Secretory - corpus luteum (empty follicle in ovary) produces high levels of progesterone - endometrium continues to thicken in anticipation of egg (secretory phase) - if no pregnancy, then progesterone dec and endometrium sloughs off (menstruation) - lasts 14 days |
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Explain conception, cell division, and implantation process
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- fertilization occurs, diploid cell is now a zygote
- zygote undergoes cleavage and divides into a ball of 16 cells, called morula - around day 5, is known as blastocyst (embryoblast and trophoblast parts) - implantation starts - enzymes secreted by trophoblast (now chorion), digests into the endometrium for implantation - |
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What does a zygote look like after 4 days
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- after 5 days, it starts getting ready for implantation
- has an outer layer called trophoblast, which later becomes the placenta - has an inner layer called embryoblast (becomes embryo) - together these are called blastocyst - |
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When does organogenesis occur?
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- from implantation to first 8 weeks of gestation
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When does heart form during embryological development?
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- heart forms by 3rd week, pumps and circulates blood by 4th week
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Fetus definition
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- from week 9 to birth
- stage of development of organ systems |
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Fetal circulation
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- fetus's three shunts maximize circulation of oxygenated blood coming from placenta
- ductus venosus directs blood to inf. vena cava, allowing oxygenated blood to enter r. atrium - foramen ovale is a hole between R. atrium and L atrium, allowing the oxygen rich blood to travel through - ductus arteriosus between pulm artery and descending aorta allows majority of oxygenated blood to travel aorta rather than the lungs |
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closure of foramen ovale
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- may take up to 3 mo
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when does a fetus have a 50% chance of survival?
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24 weeks
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What hormone is detected for pregnancy tests?
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hCG - human chorionic gonadotropin
- stim corpus luteum to continue to secrete estrogen and progesterone until placenta is mature enough to secrete those hormones |
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What is function of placenta
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- serves as an interface for exchange between mother and fetus - fetal wastes and CO2 out, nutrients, amino acids and O2 in
- produces hormones that control mother physiology, and matures fetal organs - protects fetus from immune attack by mother |
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What hormones are produced by placenta
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- progesterone & relaxin
- estrogen - hCG - hPL |
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progesterone
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- facilitates implantation (endometrial growth) and dec uterine contractlity
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estrogen
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- stim enlargement of breasts and uterus
- stimultes myometrial contractility - aka estriol |
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hCG
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- human chorionic gonadotropin
- stim corpus luteum to continue producing progesterone and estrogen until placenta can take over |
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hPL
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- human placental lactogen
- decreases maternal insulin sensitivity to inc available glucose for developing fetus - stimulates breast development in preparation of lactation |
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relaxin
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- placental hormone that works with progesterone
- relaxes pelvic ligaments - softens cervix in preparation for birth |
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when is placenta fully functional
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- around 12 weeks
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amniotic sac
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- chorionic membrane forms outer membrane, developed from trophoblast
- amniotic membrance forms inner membrane - embyroblast |
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contents of amniotic fluid
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- mostly water
- also proteins, carbs, lipids, electrolytes - fetal cells, lanugo, vernix caseosa |
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origin of amniotic fluid
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- 1st trimester - amniotic membrane
- 2nd/3rd trimesters - fetal kidneys |
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* role of amniotic fluid
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- thermal regulation for fetus
- cushioning - umbilical cord free from compression - symmetric G&D - lung development and maturity - allow fetus to swim and move around - musculoskeletal development |
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normal amt of amniotic fluid at term
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800-1000cc
polyhydramnios = 1500-200 oligohydramnios = <500 |
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wharton's jelly
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- collagenous substance surrounding umbilical vessels, protecting it from compression
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assessing umbilical vessels
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- important to assess umbilical cord for 2 arteries and 1 vein
- 20% chance of cardiovascular defect if 1 artery, 1 vein |
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umbilical cord length
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- 18-24 inch long, 1 inch thick
- shorter cords may impede baby's ability to descend through birth canal |