What hormones are involved in the Hypothalamic-Pituitary-Ovarian axis? What gives feedback where?

Hypothalamus secretes GnRH, which makes the pituitary secrete LH and FSH. FSH helps mature an ovarian follicle which secretes estrogen. Estrogen levels rise and suppress LH and FSH. A high level of estrogen causes a spike in LH which causes ovulation, and the corpus luteum secretes progesterone to stabilize the endometrium. Progesterone and estrogen feedback to the hypothalamus and pituitary.

What are the three phases of the menstrual cycle?

Follicular phase, ovulation, luteal phase.

What is primary amenorrhea?

Lack of breast development by age 14, lack of menses by age 16, or lack of menses 4 years after thelarche.

What is secondary amenorrhea?

Menstruation that has stopped for 6 months, or 3 consecutive cycles.

Where could the problem be in hypogonadotrophic hypogonadism?

The hypothalamus or the pituitary.

What is the timeline in defining infertility?

Under 35 years of age, 1 year of attempts with no success. If over 35 then 6 months with no success.

What is the diagonal conjugate and how is it measured?

The distance between the lower margin of pubic symphysis and the sacral promontory, measured per vaginum.

What two structures does the sacrotuberous ligament join?

Posterior sacrum to the ishial tuberosity (sit bones).

What two structures does the sacrospinous ligament join?

Posterior sacrum to the ishial spine.

What are the two depressions in the perineum in the female pelvis called?

One depression between the bladder and the uterus is known as the uterovesicular pouch and the second depression between the rectum and the uterus known as the rectouterine pouch.

What is the mesosalpinx and mesovarium and which ligament are they located in?

Peritoneum that covers the fallopian tubes and ovaries, within the broad ligament.

What does water under the bridge refer to?

The ureter crosses the external iliac artery at the bifurcation of common iliac artery, passing under the uterine artery, or the vas deferens.

What two muscles make up the pelvic floor and what are the subdivisions of one of them?

Coccygeus and levator ani. Levator ani is made up of the pubococcygeus and iliococcygeus.

What divisions does the iliac artery give off?

Anterior and posterior divisions.

What are the arteries in the visceral branch of the anterior division from the internal iliac artery?

Umbilical, superior and inferior vesical, middle rectal, and uterine artery.

What are the arteries in the somatic branch of the anterior division from the internal iliac artery?

Inferior gluteal, internal pudendal, and obturator.

Which reflexes are governed by the pelvic autonomic nerves S2, 3 and 4?

Micturation, genital and defecation reflex.

What three structures does the sperm have to cross when in contact with the ovum?

Corona radiata, zona pellucida, and cell membrane.

At what stage is the fertilized ovum 'hatched' from the zona pellucida? Around what day is that?

When it is a blastocyst around day 5 or 6.

At what stage does cell differentiation begin to occur in the fertilized ovum?

Around day 3 when in the morula stage, since there are now inner cells and outer cells.

What are the first two differentiated types of cells called in the blastocyst? Where are they located?

Embryoblast, which is from the inner cell mass, and trophoblast, which is from the outer cell mass.

What cells does the placenta arise primarily from?

The syncytiotrophoblast and cytototrophoblast of the trophoblast.

What is the difference between totipotent and pluripotent cells?

Totipotent can become any type of cell, including placenta or embryo. Pluripotent can become any type of cell in the embryo (stem cells), but not the placenta.

What are the primary chorionic villi made up of?

The trophoblast layers of the cytotrophoblast and syncytiotrophoblast.

What are secondary chorionic villi made up of?

The trophoblast layers of the cytotrophoblast and syncytiotrophoblast, but the core becomes replaced with mesoderm from extra embryonic mesochyme.

Around what days does implantation of the blastocyst take place?

Between day 6 and 9 post-fertilization.

Describe tertiary chorionic villi.

They have an external layer of syncytiotrophoblast, a layer of cytotrophoblast that is no longer continuous, and a core with villous capillaries.

What does the hypoblast form?

Fetal membranes, inner cell layer of the chorion, extraembryonic and mesoderm (placenta).

What does the epiblast form?

The mature fetus and the ectoderm and mesoderm of the amnion.

What is the yolk sac derived from?

From the hypoblast spreading out to line the chorion.

What is the amnion made up of?

Amniotic epithelium from epiblast and extraembryonic mesoderm (likely from the epiblast).

What are the four different types of monozygotic twins?

Conjoined, monochorionic/monoamniotic, monochroionic/diamnionic, and dichorionic/diamnionic.

What are the two types of dizygotic twins?

Dichorionic/diamnionic, and can appear to be other types through partial compression/fusion.

Are monozygotic twins perfectly identical? Why or why not?

No they are not. Post zygotic genetic changes occur, especially methylation of certain genes can shut down their expression in one twin or the other.

When does the embryonic period begin and end? What is the rest of the pregnancy called?

It starts with fertilization, so about 2 weeks LMP, and goes until 8 weeks. The rest is called the fetal period.

What is gestational age compared to embryonic age?

Gestational age is the first day of the last menstrual period (LMP), whereas embryonic age is from the point of fertilization.

What are germ cell mutations compared to somatic mutations? What cells do they affect?

Germ cell mutations are inherited from the egg or sperm so will be found in every cell. Somatic mutations are ones that occur during mitosis post-conception so will only be found in certain affected cells.

Any agent which causes malformation in a fetus.

What is the most sensitive period for teratogenic exposure in the fetus?

Around the 5th week of embryonic age.

What does the 'all or nothing period' refer to in dysmorphology?

Embryonic age of 1 to 3 weeks where the fetus has not begun to differentiate the cells. If something will affect the fetus it will be overall and likely lead to miscarriage. Conversely, damaged cells can be replaced by pluripotent ones.

What can breakthrough bleeding in pregnancy be caused by?

Implantation, hormonal fluctuation around former menstrual cycles, pathologies of the uterus (fibroids, cysts, or signs of miscarriage).

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Human Development

Human Development

by SaraDavidson, Mar. 2012

Subjects: development human

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	What hormones are involved in the Hypothalamic-Pituitary-Ovarian axis? What gives feedback where?	Hypothalamus secretes GnRH, which makes the pituitary secrete LH and FSH. FSH helps mature an ovarian follicle which secretes estrogen. Estrogen levels rise and suppress LH and FSH. A high level of estrogen causes a spike in LH which causes ovulation, and the corpus luteum secretes progesterone to stabilize the endometrium. Progesterone and estrogen feedback to the hypothalamus and pituitary.
	What are the three phases of the menstrual cycle?	Follicular phase, ovulation, luteal phase.
	What is primary amenorrhea?	Lack of breast development by age 14, lack of menses by age 16, or lack of menses 4 years after thelarche.
	What is secondary amenorrhea?	Menstruation that has stopped for 6 months, or 3 consecutive cycles.
	Where could the problem be in hypogonadotrophic hypogonadism?	The hypothalamus or the pituitary.
	Where could the problem be in hypergonadotrophic hypogonadism?	In the gonads themselves.
	What is the timeline in defining infertility?	Under 35 years of age, 1 year of attempts with no success. If over 35 then 6 months with no success.
	What do the pubic crest, pectineal line or pecten pubis, arcuate line, ala of sacrum, sacral promontory make up?	The pelvic brim.
	Where is the false pelvis in relation to the pelvic brim?	Above it (superior to it).
	What is the diagonal conjugate and how is it measured?	The distance between the lower margin of pubic symphysis and the sacral promontory, measured per vaginum.
	What type of joint is the sacroiliac joint?	A synovial joint.
	What two structures does the sacrotuberous ligament join?	Posterior sacrum to the ishial tuberosity (sit bones).
	What two structures does the sacrospinous ligament join?	Posterior sacrum to the ishial spine.
	What are the two depressions in the perineum in the female pelvis called?	One depression between the bladder and the uterus is known as the uterovesicular pouch and the second depression between the rectum and the uterus known as the rectouterine pouch.
	What is the mesosalpinx and mesovarium and which ligament are they located in?	Peritoneum that covers the fallopian tubes and ovaries, within the broad ligament.
	What does water under the bridge refer to?	The ureter crosses the external iliac artery at the bifurcation of common iliac artery, passing under the uterine artery, or the vas deferens.
	What two muscles make up the pelvic floor and what are the subdivisions of one of them?	Coccygeus and levator ani. Levator ani is made up of the pubococcygeus and iliococcygeus.
	Which spinal levels do the parasympathetic nerves of the pelvis arise from?	S2, 3 and 4.
	What divisions does the iliac artery give off?	Anterior and posterior divisions.
	What are the arteries in the visceral branch of the anterior division from the internal iliac artery?	Umbilical, superior and inferior vesical, middle rectal, and uterine artery.
	What are the arteries in the somatic branch of the anterior division from the internal iliac artery?	Inferior gluteal, internal pudendal, and obturator.
	Which reflexes are governed by the pelvic autonomic nerves S2, 3 and 4?	Micturation, genital and defecation reflex.
	What three structures does the sperm have to cross when in contact with the ovum?	Corona radiata, zona pellucida, and cell membrane.
	What does the fertilized ovum become after the morula stage on day 4?	Blastocyst.
	At what stage is the fertilized ovum 'hatched' from the zona pellucida? Around what day is that?	When it is a blastocyst around day 5 or 6.
	At what stage does cell differentiation begin to occur in the fertilized ovum?	Around day 3 when in the morula stage, since there are now inner cells and outer cells.
	What are the first two differentiated types of cells called in the blastocyst? Where are they located?	Embryoblast, which is from the inner cell mass, and trophoblast, which is from the outer cell mass.
	What do the fetus, amnion, inner cell layer of the chorion and extraembryonic mesoderm arise from?	The embryoblast cells.
	What cells does the placenta arise primarily from?	The syncytiotrophoblast and cytototrophoblast of the trophoblast.
	What is the difference between totipotent and pluripotent cells?	Totipotent can become any type of cell, including placenta or embryo. Pluripotent can become any type of cell in the embryo (stem cells), but not the placenta.
	What are the primary chorionic villi made up of?	The trophoblast layers of the cytotrophoblast and syncytiotrophoblast.
	What are secondary chorionic villi made up of?	The trophoblast layers of the cytotrophoblast and syncytiotrophoblast, but the core becomes replaced with mesoderm from extra embryonic mesochyme.
	Around what days does implantation of the blastocyst take place?	Between day 6 and 9 post-fertilization.
	Describe tertiary chorionic villi.	They have an external layer of syncytiotrophoblast, a layer of cytotrophoblast that is no longer continuous, and a core with villous capillaries.
	What two tissues does the embryoblast differentiate into?	The hypoblast and epiblast.
	What does the hypoblast form?	Fetal membranes, inner cell layer of the chorion, extraembryonic and mesoderm (placenta).
	What does the epiblast form?	The mature fetus and the ectoderm and mesoderm of the amnion.
	What is the yolk sac derived from?	From the hypoblast spreading out to line the chorion.
	What is the name of the structure formed from remnants of the yolk sac?	Meckel's diverticulum.
	What is the amnion made up of?	Amniotic epithelium from epiblast and extraembryonic mesoderm (likely from the epiblast).
	What are the four different types of monozygotic twins?	Conjoined, monochorionic/monoamniotic, monochroionic/diamnionic, and dichorionic/diamnionic.
	What are the two types of dizygotic twins?	Dichorionic/diamnionic, and can appear to be other types through partial compression/fusion.
	Are monozygotic twins perfectly identical? Why or why not?	No they are not. Post zygotic genetic changes occur, especially methylation of certain genes can shut down their expression in one twin or the other.
	When does the embryonic period begin and end? What is the rest of the pregnancy called?	It starts with fertilization, so about 2 weeks LMP, and goes until 8 weeks. The rest is called the fetal period.
	What is gestational age compared to embryonic age?	Gestational age is the first day of the last menstrual period (LMP), whereas embryonic age is from the point of fertilization.
	What are germ cell mutations compared to somatic mutations? What cells do they affect?	Germ cell mutations are inherited from the egg or sperm so will be found in every cell. Somatic mutations are ones that occur during mitosis post-conception so will only be found in certain affected cells.
	What is a teratogen?	Any agent which causes malformation in a fetus.
	What is the most sensitive period for teratogenic exposure in the fetus?	Around the 5th week of embryonic age.
	What does the 'all or nothing period' refer to in dysmorphology?	Embryonic age of 1 to 3 weeks where the fetus has not begun to differentiate the cells. If something will affect the fetus it will be overall and likely lead to miscarriage. Conversely, damaged cells can be replaced by pluripotent ones.
	What can breakthrough bleeding in pregnancy be caused by?	Implantation, hormonal fluctuation around former menstrual cycles, pathologies of the uterus (fibroids, cysts, or signs of miscarriage).
	What is the chance of having a baby with Down syndrome if the mother is age 40?	1 in 100.
	Do women younger than 35 or older than 35 have more babies born with Down syndrome?	Under 35, since they have more babies in general.
	What is the development and differentiation of the spermatid head and tail called?	Spermiogenesis
	What is the release of mature spermatozoa into the seminiferous tubule lumen called?	Spermiation
	What hormones are needed to initiate spermiogenesis?	LH and FSH
	What does LH increase 65x in the testes in order to maintain spermiogenesis?	Testosterone
	How long are human gonads sexually indifferent in the embryo?	Till 6 weeks
	At what meiosis phase do the oogonia rest at in the newborn baby girl?	Prophase 1
	What are cortical granules for the in the oocyte?	They block polyspermy after fertilization by releasing proteases that harden the zona pellucida.
	What are the stem cells that result in oocytes and spermatozoa?	Primordial germ cells
	What do the oocyte and granulosa cells form?	Graafian follicle
	What is present to ensure embryonic competence?	Accumulation of mRNA’s during oocyte growth and the synthesis of proteins required to drive early embryonic events.
	Where does the mitochondria in the embryotic cells come from, the sperm or the ovum?	Ovum, the sperm's mitochondria degererate.
	What ovum organelle exports huge amounts of glycoproteins to make the zona pellucida?	The golgi
	Where do the centrioles in the fertilized ovum come from?	The sperm, since ovum centrioles disappear.
	What is the two cell-two gonadotropin theory?	The making of estrogen requires cooperation between the granulosa and theca cells. Thecal androgen production is stimulated by LH and yields the substrate for FSH dependent aromatase in granulosa cells.
	Which is the main trophic hormone for the uterus in the follicular phase?	Estradiol
	What are the two layers of the endometrium? Which sheds and which regenerates?	Functionalis sheds and basalis regenerates.
	Which child developmental stage describes development as biologic maturation, through an orderly sequence, only somewhat affected by experience?	Gesell's maturation model
	What child development stage states that thinking is different in children vs adults, goes through series of shifts, and the key step through adolescence is abstract thinking?	Piaget's cognitive model
	What child development stage consists of dynamic, structural and sequential components influenced by an individual’s need to gratify basic instincts?	Freud's psychodynamic model
	In which child development model is each stage marked by a key conflict and the need to understand and come to terms with each side/extreme?	Erikson's psychosocial model
	What are the key stages and conflicts in Erikson's model of child development? What is the hoped for outcome of each?	Infant:Trust vs Mistrust = hope Toddler: Autonomy vs Shame and Doubt = will Preschooler: Initiative vs Guilt = purpose School-‐Age Child: Industry vs Inferiority = confidence Adolescent: Identity vs Role Confusion = fidelity Young Adult: Intimacy vs Isolation = love Middle-‐Age Adult: Generativity vs Stagnation = caring Older Adult: Integrity vs Despair = wisdom
	What child development model is based on strengthening and weakening of stimulus/response functions?	Behavioural model
	What is sperm activation known as?	Capitation
	What happens to the haploid DNA when the sperm fertilizes the egg? What does this result in?	The separate sperm and ovum pronuclei replicate their DNA and then undergo mitosis. This results in 2 diploid daughter cells, each with a single nucleus with 23 pairs of chromosomes each.
	What is the correct order of development for morula, blastocyst, zygote and blastomere? When do these develop?	Zygote upon fertilization. Blastomere is when it starts to divide. Morula is around day 3 when it is a ball of cells. Blastocyst is when inner and outer mass cells begin to differentiate around day 4.
	What has been shown to increase birth weight, prevent preterm births, and reduce child abuse and neglect?	Prenatal care.
	How much folate should women have who may become pregnant? How about for higher risk women?	No risk factors, 0.4 mg / day Prior pregnancy affected by folate problem, 1 mg / day History of NTD, 4 mg / day
	When should ultrasound dating be considered?	- Uncertain LMP - Abnormal / irregular menstrual cycles - < 3 cycles since last pregnancy - < 3 cycles since discontinuation of hormonal contraception
	What is the Gravida/para/abortus (GPA) scale measuring?	Gravida indicates the number of times the mother has been pregnant in total, Para indicates the number of viable (>20 wks) births (twins count as 1), and Abortus is the number of pregnancies that were lost for any reason.
	How are losses of fetuses and infants classified?	Abortus if under 20 weeks, Stillborn if over 20 weeks, Early neonatal death if under 7 days of age, and Late neonatal death if under 28 days of age.
	When are maternal serum testing's scheduled?	First trimester, 9 - 14 weeks and second trimester 15 - 21 weeks.
	When is the Early Pregnancy Review Screening Ultrasound for Fetal Aneuploidy for women at risk?	11 to 14 weeks.
	What risk factors do women have who are offered Antenatal Screening for Fetal Aneuploidy?	Advanced maternal age (≥ 35 at EDD), multiple gestation, medical comorbidities (ex: pregestational DM), IVF, recurrent pregnancy loss, prior history of birth anomalies.
	When is the routine prenatal ultrasound offered?	18 - 21 weeks.
	What is the appropriate weight gain when pregnant for someone with a normal BMI? With an overweight BMI? With an obese BMI?	- Normal weight: 11.5-16 kg (25-35 lb) - Overweight: 7 11.5 kg (15-25 lb) - Obese: 5-9 kg (11-20 lb)
	How high should the uterine fundus be at 12 weeks, 20 weeks and each week thereafter?	- Pubic symphysis - Umbilicus - 1 cm per week higher
	How often are prenatal visits in low risk pregnancies?	- 4 - 28 weeks gestational age is monthly - 28 - 36 weeks is every 2 weeks - 36 weeks to term is weekly - 6 weeks postpartum
	What are the Bs of the postnatal visit?	• Baby • Breasts • Bladder • Bowels • Bleeding • Birth control • Blues
	What is the genotype and how do you analyze it? What is the phenotype and how do you analyze it?	Genotype refers to all of the genes a person has. It is measured via DNA analysis. Phenotype refers to which genes are expressed. It is measured via clinical evaluation.
	What does Mendel's law of segregation refer to?	Every individual possesses a pair of alleles for any particular trait. Each parent passes a randomly selected copy (allele) of only one of these to its offspring.
	What does Mendel's law of independent assortment refer to?	Separate genes for separate traits are passed independently of one another from parents to offspring.
	What is the Hardy-‐Weinberg Law? What do the letters refer to?	p2 + 2pq + q2 (assume p + q =1) AA (unaffected): p2 Aa (heterozygous): 2pq aa (affected): q2
	What is the primary mechanism of clinical genetic investigation?	Family history.
	What type of specimen is commonly used for chromosome testing? Can it be frozen?	Peripheral blood. Needs to be fresh and cultured for ~ 4 days.
	What does an acrocentric chromosome mean?	It has one short arm so the centromere is not in the centre.
	What are the 4 main types of errors in chromosomal abnormalities?	• Errors in meiosis (gametogenesis) • Errors in mitosis (mosaicism) • Errors in fertilization (polyploidy) • Structural abnormalities and rearrangements
	What is the concern with a balanced chromosomal abnormality?	Passing on the imbalance to offspring that can have phenotypical abnormalities.
	What is aneuploidy?	Any number of chromosomes different than 23 in a haploid.
	What are two common sex chromosome aneuploidy, one for each gender?	Turner syndrome 45X in females and Klinefelter 47 XXYin males.
	What is the cause of aneuploidy in the gamete? In the somatic cells?	Meiotic or mitotic non-disjunction.
	What is used to visualize the chromosome, and at what resolution is it normally done?	G-banding and at 400 bands.
	What is polyploidy?	The loss or gain of complete haploid set.
	What is an example of a structural chromosomal abnormality? Is it always lethal?	A chromosomal breakage with a reunion in a different configuration. It is not necessarily lethal if all clinically relevant genetic material is retained.
	What is a Robertsonian translocation? What does the total chromosome count end up being?	A translocation between two acrocentric chromosomes by fusion at or near the centromere with loss of short arms. 45 instead of 46.
	Which numbers are the acrocentric chromosomes?	13, 14, 15, 21 and 22.
	What is the chromosomal rearrangement in Down syndrome from a Robertsonian translocation?	14, 21
	What is the percent risk of having a baby with Down syndrome from a Robertsonian translocation that is passed down by the mother? By the father?	10 - 13% if the mother is a carrier, and 2 - 3% if the father is a carrier.
	What is FISH? What does it test?	Fluorescence in situ hybridization, used as an adjunct to G-banding. It tests small pathogenic imbalances on individual chromosomes.
	What is microarray and what does it test?	It tests the entire genome to identify genetic anomalies.
	What is the benefit of the myometrium being smooth muscle?	Greater shortening of muscle fibers compared to skeletal muscle. Forces being exerted in multiple directions is ideal for expelling baby. Greater multidirectional force can be generated in fundus to push baby down.
	What are the 4 Phases of Labour?	Quiescence - most of the pregnancy Activation - Uterus becomes activated in response to uterotropins from fetus and mother Stimulation (Labour) - Progressive uterine contractions that cause cervical effacement, dilation and delivery Involution - Uterine involution and cervical repair
	What are the 4 Ps involved in the baby successfully negotiating the pelvis for delivery?	1. Power – uterine contractions 2. Passage – the maternal pelvis 3. Passenger – the fetus 4. Psyche
	What are some of the variables regarding the fetus that can affect normal delivery?	A. Fetal Size B. Fetal Lie - The relation of the long-‐axis of the fetus to that of the mother C. Fetal Presentation - part of the fetal body that is lowest in the birth canal (vertex vs. breech) D. Fetal Position - Occiput Anterior is the most common and ideal E. Station - Measure of descent of the bony presenting part of the fetus through the pelvis - ischial spine of mother is reference point F. Fetal anomalies (e.g. hydrocephalus)
	What is a locus?	The specific physical location of a gene on a chromosome.
	What is a gene?	The hereditary factor that interacts with the environment to determine a trait. The specific physical location of a gene on a chromosome.
	What is an allele?	Different forms of the same gene.
	What is the genotype?	The genetic constitution of an individual made up of a specific allelic combination.
	What is the phenotype?	The observable traits determined by a person's genotype interacting with the environment.
	What is homozygous?	The two alleles on homologous chromosomes are identical.
	What is heterozygous?	The two alleles of the same gene on a pair of homologous chromosomes are different. Can be referred to as carriers.
	What is hemizygous?	A male with an abnormal allele located on the X chromosome when there is no other copy of the gene. Not homozygous or heterozygous.
	What are dominant traits?	A trait is dominant if it is phenotypically expressed in heterozygotes (as well as homozygotes).
	What are recessive traits?	A trait phenotypically expressed only in the homozygote. The mutant allele must be present on both chromosomes for expression.
	Where are autosomal traits found? How about X-linked?	Chromosomes 1 - 22. Sex chromosomes, on the X chromosome.
	What conditions are found through vertical transmission? What is the chance of passing it along? Are their carriers?	Autosomal dominant conditions. There is a 50% chance of passing it along. There are no carriers of it, you either have the phenotype or you do not.
	What type of transmission and where do 'new mutations' arise from? Do they get passed along?	Primarily autosomal dominant disorders. Mostly of paternal origin. Associated with advanced paternal age. There is less likely a chance of reproduction to pass it along.
	Which transmission form has a horizontal pedigree pattern? What is the chance a person will be affected?	Autosomal recessive, which means both parents must be a carrier. Each sibling of an affected person has a 25% (1 in 4) chance of being affected.
	Consanguinity increases the risk of passing along what type of condition?	An autosomal recessive condition since related parents are more likely carriers of certain conditions.
	Who is affected by X-linked recessive conditions? What pattern of transmission does it form? Who is it passed along to?	50% of males from their mothers. Diagonal transmission. Affected males have daughters who become carriers, but they do not pass it down to their sons.
	What is X inactivation?	This is the state where one of the X chromosomes is turned off in females, but it is the 'normal' chromosome that is turned off, leaving the mutant allele on. She can manifest X linked diseases then.
	Who is affected by X linked dominant conditions?	All daughters of an affected male and a normal female are affected. All sons of an affected male and a normal female are normal, since father's don't pass along an X to their son. But matings of affected females and normal males produce 1/2 the sons affected and 1/2 the daughters affected.
	What is mitochondrial inheritance? Who do we inherit it from?	Females pass their mitochondria down to off spring, it can be passed down to almost all children, but does not always follow Mendelian law. Many organs can be affected by diseases passed this way.
	What are unstable repeat expansions? What are some examples?	It is an unstable mutation from generation to generation. Expansions within a gene of a DNA segment consisting of repeating units of usually 3 nucleotides in tandem. Huntington's is an example.
	What is imprinting involved in genetic disease?	There are some diseases that vary depending on whether it is passed down from mother or father. An example is the same deletion on an allele in mom will lead to Angelman syndrome and if it is deleted in dad it will lead to Prader-Willi syndrome.
	What are mutations?	Any permanent inheritable change in the sequence of genomic DNA. They can be genomic (additional chromosomes), chromosomal (translocations), or gene mutations (altered base pairs - insertions or deletions).
	What is the most common point mutation occurring 50% of the time?	A missense mutation, where a different amino acid is put into the protein. Many are benign, but it depends on where they are.
	What is a non-sense mutation?	Where a premature stop codon is inserted. This drastically alters the protein.
	What happens in a mutation if there is an addition or deletion that is not a multiple of three? What if it is a multiple of three?	You get a frameshift mutation which leads to premature termination of a protein. If you have a multiple of three, you get an inserted or deleted amino acid - function changes will depend on where it is located.
	What are polymorphisms compared to mutations? What is a variant of unknown significance?	2 or more alternate genotypes in a population at a frequency greater than could be accounted for by recurrent mutation alone, but are benign. Mutations lead to non-functioning or abnormal proteins leading to disease. A VUS is somewhere in between and unclear whether or not it is pathological.
	What are coding region mutations known for?	They lead to structurally abnormal proteins, which results in a loss of function, such as the loss function of tumour supressor genes-‐ BRCA1/BRCA2
	What are non-coding region mutations known for?	Proteins are normal but the regulating of their expression is not, leading to loss of function or gain of function based on the protein amount. Can lead to ectopic gene expression of oncogenes.
	What is the process in which the cranial/caudal and left/right axes are defined? When does it occur?	Gastrulation which takes place 3 weeks post fertilization.
	What is locus heterogeneity?	It means that a disease can arise from a number of different loci.
	In embryology, when is 'position' defined?	At the time that a structure first develops. Secondary changes and folding can change the relative position of structures.
	What is rostral?	Towards the top of the vertical axis. Usually defined based upon neural anatomy.
	What is caudal?	It is defined by neural axis. The most caudal structure is the coccyx. Note: the lower limb represents a secondary outgrowth and is therefore “less” caudal.
	How do you define limb position?	Generally use 1st digit as a landmark, i.e. preaxial addition vs. postaxial addition.
	What do signals from the notochord cause? What is formed at the edges of the fold?	Neurolation, which causes the overlying ectoderm to thicken into the neural plate. The edges of the fold thicken and become the neurocrest.
	How and when does the neural tube close? What happens if it doesn't?	Points along it close and then zipper towards each other. The cranial end closes on day 25, caudal end closed on day 27. NTD form if it does not close.
	What does the mesoderm become?	Bone, Muscle, Kidneys, Heart, Blood, Gonads, Serous membranes.
	After gastrulation the mesoderm is divided into which 5 fields?	1. Notochord 2. Paraxial- forms somites 3. Intermediate-(thorax only) forms kidneys, gonads (Exception: Germ Cells (Yolk Sac) 4. Lateral Plate-(thorax only) forms: the body wall, appendicular skeleton, the wall of the gut and the circulatory system 5. Cardiogenic field
	What is the first sign of segmentation in the embryo? What does it play a role in segmenting? Which direction does it go?	Somite formation. It helps form segments of the PNS in a cranial to caudal direction.
	What 3 'tomes' do somites form? What are each related to?	Dermatomes - axial dermis Myotomes - axial, limb & tongue musculature Sclerotome - vertebrae & ribs
	What does intermediate mesoderm form?	Urinary system, and genital system, including genital ridges which contribute to the gonadal support cells.
	What does the lateral plate mesoderm form?	The body wall, appendicular skeleton, the wall of the gut and the circulatory system.
	How many primary oocytes are present at birth? What stage are they at? What happens to the stage during ovulation? During fertilization?	1 - 2 million primary oocytes halted in prophase I. During ovulation they complete prophase I and release a polar body as they shed a homologous chromosome, and halt in metaphase II known as a secondary oocyte. When fertilized they shed the sister chromatid.
	What is the cortical reaction?	When the sperm makes it through the zona pelucida the cortical granules release enzymes that harden zona, preventing polyspermy (other sperm from entering).
	What is the best non-permanent form of contraception?	Mirena IUD, an IUD that secretes low does progesterone.
	How does Trisomy 21 occur? Name two ways.	Meiotic dysjuction or translocation.
	What is considered the in-utero age of viability?	24 weeks gestational age.
	What does the SRY gene do? Which chromosome is it located on?	The SRY gene sends instructions to cells in the gonads, telling them to make a protein called testis-determining factor (TDF). The SRY gene is from the Y chromosome.
	When does the pronephros appear? When does it disappear? Is it functional?	Third week, fifth week. Nope.
	What does the intermediate mesoderm give rise to?	The urinary and genital systems.
	What do the ureteric buds form? Around when?	They form the metanephros, or permanent kidney, around the 5th week.
	What causes horseshoe kidney and what are the complications of it?	When the metanephros tries to ascend and gets blocked by the superior mesenteric artery. Some complications are stones, UTIs and susceptibility to trauma.
	What does the paramesonephric duct go on to form? What must not be present for that to happen?	It forms the fallopian tubes, uterus and upper third of the vagina. AMH must not be present, for if it is secreted by Sertoli cells then the duct will degenerate.
	What is the mesonephric duct also known as? What does it become? What structures along the same path does it not form?	Wolffian duct. It becomes the epididymis, vas deferens and seminal vesicles. It does not form the prostate nor the bulbourethral glands, these form from the urinary bladder.
	What male organ is homologous to the clitoris, labia minora and labia majora?	The penis, urogenital folds that fuse to enclose the penile urethra, and the scrotum.
	What does the gubernaculum do in males? What is it attached to and what passage does it help create?	It guides the testes down into the scrotum. It is attached to the testes and the floor of the abdominopelvic cavity, and passes through what becomes the inguinal canal.
	What does the gubernaculum do in females? What does it become afterwards?	It helps pull the ovaries inferiorly. Afterwards it becomes the ovarian ligament (which attaches the ovary to the uterus), and the round ligament (which attaches the lateral superior corner of the uterus through the inguinal ligament to the labia majora.)
	What is cryptorchidism? What is the risk if it persists?	Undescended testes, risk of testicular cancer.
	What is the tunica vaginalis and how does it get formed in the male? What happens if it does not fully fuse at the top?	It is the space left after the scrotum has been invaginated by the vaginal process. This happens by the body wall elongating and forming the scrotum, eventually fusing at the top. This is the site of inguinal hernia formation if not fully fused.
	What are the cost implications of expanding screening program test panels?	• direct costs include not only health care (hospital/ out-patient/pharmacy/diet) but also education, social services, transportation for the affected • indirect costs may include health care costs for parents, and cost due to time off work, travel time, etc • non‐tangible costs include the stress, anxiety, change in family dynamics, loss of an “expected outcome”
	What are the legal requirements for newborn screening?	Provinces are mandated to have to provide NBS, but to partake of them is not mandatory.
	What are the principles that underlie the decision about which diseases should be screened for?	(1) The condition sought should be an important health problem. (2) There should be an accepted treatment for patients with recognized disease. (3) Facilities for diagnosis and treatment should be available. (4) There should be a recognizable latent or early symptomatic stage. (5) There should be a suitable test or examination. (6) The test should be acceptable to the population. (7) The natural history of the condition, including development from latent to declared disease, should be adequately understood. (8) There should be an agreed policy on whom to treat as patients. (9) The cost of case-finding (including diagnosis and treatment of patients diagnosed) should be economically balanced in relation to possible expenditure on medical care as a whole. (10) Case-finding should be a continuing process and not a "one and for all" project.
	What structures are the first anatomical evidence of segmentation? What do they play a role in segmenting?	Somites, the PNS.
	What do signals from the notocord cause the ectoderm to do?	It thickens into the neural plate, the edges form the neural fold, the dorsal edges pinch off to form the neural crest.
	What forms the bone, muscle, kidneys, heart, blood, gonads, and serous membranes?	The mesoderm.
	What do segmented somites induce further segmentation into?	The dorsal root ganglia of the afferent/efferent PNS, and the sympathetic chain.
	What does lateral plate mesoderm split into? When they laterally fold do they remain split?	Parietal mesoderm that continues into the amnion, and visceral mesoderm that continues into the yolk sac. Yes, they form a tube within a tube.
	What does the trachea start out as?	A diverticulum off the foregut.
	What hidden tracheal problem can lead to recurrent pneumonia?	Tracheal esophageal fistula, which can lead to polyhydraminos and be part of VACTERL syndrome.
	What does the liver grow out of? Where does it grow into? What does each part form?	Grows out of a pocket of endoderm and grow into the mesodermic septum transversum. The endoderm forms the hepatoblats and ducts, the mesoderm forms the stroma.
	Is the gut always a hollow tube? What problems can occur if not?	It starts hollow, then parts become solid in the 2nd month. They later recanalize unevenly forming villi. Sometimes parts don't recanalize leading to atresia, especially in the duodenum.
	Which organ makes amniotic fluid in the 2nd half of the pregnancy? What if that organ fails or is blocked?	The kidneys. Failure can lead to oligohydraminos which causes malformation due to compression, as well as pulmonary hypoplasia.
	What does the mesonephric duct go on to form in the male?	Vas deferens
	What forms cranially to the buccopharyngeal membrane? What is cranial to that structure? How do they end up reversed in the completed body?	The heart tube is cranial to the BPM, and the septum transversum is further cranial. The cranial folding rolls them down into place.
	What two structures does caudal folding bring in beside the yolk sac? What do these three things become incorporated into?	The allantois and vitelline duct. Along with the stretching, thinning yolk sac they become part of the umbilical cord.
	Define genetic penetrance. What does incomplete penetrance account for?	The frequency with which a phenotype is actually expressed when the person has the genotype. Incomplete penetrance can cause skipped generations.
	What is genetic 'expressivity'?	It is the degree of phenotypic variation from a specific genotype.
	What is pleiotropy?	It is the genetic effect of a single gene on multiple phenotypic traits, such as Marfan syndrome - one gene, many different manifestations of disease.
	What does allelic heterogeneity mean?	The same phenotype may be produced by different genotypes and/or at different loci, i.e. CF is caused by many different mutations on the same gene, or adult PCKD from more than one loci.
	What variables affect phenotype?	Gender, age of onset, non-paternity, mosaicism, imprinting, environment.
	What does a mutation in the PAH gene lead to? What does this cause and why is it a problem?	It leads to an increase in serum phenylalanine (over 1000 umol) and causes PKU. When elevated Phe gets through the blood brain barrier it is toxic to neurons and leads to significant mental impairment.
	What gene is responsible for a lack of proper chloride channel functioning?	The CFTR, or Cystic fibrosis transmembrane conductance regulator gene.
	What form of CF only affects men?	Congenital bilateral absence of the vas deferens.
	What does genetic 'anticipation' mean? What is an example?	The progressive earlier onset and increase in severity of certain diseases in successive generations. An example is an expansion of unstable repeats found in Huntington's disease.
	How is Huntington's disease passed down? What is happening on the DNA level?	It is autosomal dominant. It is caused by trinucleotide expansion at the 5' end of the huntington gene.
	What is mosaicism? What are the two types and can they be passed on?	It is the presence in a whole person (Germline) or a tissue (Somatic) of two genetically different cells from the same zygotic origin. Germline can be passed on, but somatic arise spontaneously after birth and is not passed along.
	What is a sensitive test good at screening for? How about a specific test?	Sensitive tests are to correctly identify people who have the disease. Specific tests identify people who do not have the disease.
	What is the difference between screening and diagnostic tests in terms of who is targeted and what they find?	Screening targets seemingly well people to try and detect disease before it has manifested. Diagnostic tests are used to confirm diagnosis in those who are affected.
	What are three broad categories of genetic tests and what are examples of each?	Cytogenic - karyotyping, FISH, comparative genomic hybridization (CGH) Molecular - southern blot, PCR analysis, gene or genome sequencing Biochemical - metabolite levels, enzyme activity assays
	When are CVS tests done? How about amniocentesis? What are they looking for?	CVS - 10 - 12 weeks, amniocentesis 15 - 18 weeks. They look for genetic anomolies, and amniotic fluid can be also tested for AFP.
	What is a haplotype?	A small segment of chromosome containing multiple loci. It is usually passed on to offspring in its entirety.
	Are genetic heterogeneity and complex inheritance the same thing?	No, GH is a Mendelian concept of multiple genes involved in disease, whereas CI means many other things are involved as well.
	What is polygenic inheritance? What does it result in?	A trait manifested by 2 or more genes, often numerous genes, often with multiple alleles for each gene. It creates a blended phenotype in the offspring.
	How do monogenic and polygenic traits differ?	Monogenic traits are either or, discreet and based on a limited allele that leads to a limited phenotypic expression. Polygenic are continuous, with multiple alleles that add up and create a number of different versions of traits.
	What two things is multifactorial inheritance based on?	Polygenic inheritance plus environmental factors.
	What does a model for threshold multifactorial inheritance look like?	A combination of just enough locus traits plus environmental factors to bring on disease.
	Does a cluster of disease in a family prove it is genetic?	No, because environmental factors can be shared commonly in families, as can infectious factors.
	What genes to parents and children have in common? How about siblings?	Children and parents have 50% of their genes and 1 allele at each locus in common. Siblings have 50% of their genes, but 0 thru 2 alleles in common at each locus.
	What does genetic liability refer to?	When a multifactorial condition occurs to someone who does not have any obvious risk factors - the cause of the condition must have been primarily genetic, i.e. heart attack in healthy young woman.
	What are the main factors to consider when gauging a sibling's chance of disease?	If other low risk siblings have the disease, it points to a high genetic predisposition in that family. Gender predisposition is considered next. Shared environmental issues are also then considered.
	What is a GWAS study? What does it form the basis of? Are they effective for creating change?	A genome-wide association study is a case control study looking at genetic risk for a particular condition. It compares relative haplotypes at multiple specific loci between two groups. It is the basis of a personal genomic. They are not proven to modify behaviour.
	What affect can genetics have on pharmacokinetics?	Varying levels of CP450 or other enzymes can determine how quickly or slowly someone will metabolize the drugs.
	In multifactorial inheritance do affected children more or less likely have parents also affected by the disease or trait?	Parents are likely not affected.
	What factors affect risk of a proband's condition showing up in a relative, in multifactorial inheritance?	Closer degree of relation, consanguinity, number of affected relatives, and severity of condition in the proband.
	Does emergency contraception terminate a pregnancy?	No, it prevents it from occurring (an important point for anti-abortion patients).
	What is the most effective emergency contraception form?	A copper IUCD inserted within 5 days of intercourse, for 99.9% effectiveness.
	How many abortions take place per year around the world? How many are safe and unsafe?	42 million per year, 22 million safely, 20 million unsafely.
	When are medical abortions typically performed? What forms are there, and who are they best suited to?	Under 8 weeks. Methotrexate plus Misoprostol is typically used together. They are used for people who are able to adhere to treatment and commit to follow up.
	What is the gold standard form of pregnancy termination? When is it performed?	Suction dilatation and curettage performed under 13 weeks.
	When are dilatation and evacuation procedures performed? Are any pre-procedure techniques required?	13 - 22 weeks. Generally over 18 weeks is rarely done and only by very experienced physicians in a few centres. The pre-procedure is to soften the cervix for dilatation with misprostol or osmotic dilators-laminaria tents.
	When is labour induction used for pregnancy termination? How is it achieved?	Second trimester, 14 - 28 weeks using uterotonic agents such as misoprostol, to stimulate contractions and delivery in hospital.
	What are the complications of pregnancy termination and what are not (but commonly worried about)?	True complications, Rh isoimmunization (RhiG given for Rh - women), bleeding (1%), cervical shock (rare), cervical injury (usually superficial and benign), uterine perforation (.2%), hematometra (.1 - 1%). False risks, infertility, ectopic pregnancy, preterm births, breast cancer, placenta previa (unless many procedures and cervical trauma).
	How much does the uterus grow in pregnancy? What is the blood flow to the uterus at term?	It grows from 70 grams to 1100 grams! At term blood flow is 500 ml per minute.
	What is pyogenic granuloma? Is it commonly removed?	A benign 'juicy' red nodular lesion on the face or gums during pregnancy. It is not removed as it is highly vascular and typically resolves itself after pregnancy.
	What happens to CHO metabolism during pregnancy? What hormones are involved? What can this lead to?	In the first trimester there is an increase in insulin sensitivity in the mother so she absorbs more carbs, but in the second trimester there is more insulin resistance which makes the fetus absorb more of the carbs. Human placental lactogen (HPL), estradiol, progesterone, and cortisol. This can lead to gestational diabetes especially in the second trimester.
	What pituitary hormones increase in pregnancy? Which part are they from? What happens to the size of the gland?	There is an increase in prolactin to mature the breasts and for lactation, in growth hormone, in ACTH, and in oxytocin during labour. Oxytocin is from the posterior pituitary, the others from the anterior. The pituitary gets bigger in pregnancy.
	What happens to the thyroid in pregnancy? Which hormones increase and which do not?	It increases in size and increases its metabolic rate by 25%. TBG, T3 and T4 increase. Free T3, free T4, TSH and TRH do not increase.
	What happens to the parathyroid gland in pregnancy? Why?	There is a state of 'physiologic hyperparathyroidism' in order to facilitate greater absorption of Ca2+ from the gut, reabsorb from the kidneys and resorb from mom's bones. Mom's serum calcium is reduced during this time as it is being shunted to the fetus.
	What happens to the liver and enzyme levels during pregnancy?	There is less blood flow to it and less albumin made. There is an increase in cholesterol levels and alk phos levels. ALT and AST levels stay the same.
	What happens to the maternal GI tract during pregnancy?	Increase in appetite due to elevated HCG, increase cravings, hyperemesis (70%), decreased tone/emptying (so reflux, constipation), and venous stasis leading to hemorroids.
	How long does the corpus luteum make progesterone till the placenta kicks in?	10 - 12 weeks.
	What happens in the maternal respiratory tract during pregnancy?	Increase in blood flow and estrogen leads to congestion and epistaxis, diaphragm is elevated 4 cm, increase in thoracic diameter, lung tidal volume increases by 30 - 40%, relative hyperventilation leading to alkalosis (maybe to pull off CO2 from the fetus and be high in O2 in mom's bloodstream).
	What are the hematological changes in pregnancy?	Blood volume increases 40 - 45% beginning at 4 weeks. This offers protection from blood loss in birth. There is a greater increase in plasma volume than RBCs, leading to physiological anemia (may be protective from DVT due to venous stasis, and to facilitate placetal perfusion).
	When is the greatest risk for a DVT in pregnancy? Can you do a D-dimer test?	Post-partum, no since it will be elevated anyway.
	How do you calculate Cardiac Output? What happens to it during pregnancy?	Stroke volume per minute times heart rate per minute. CO increases by 30 - 50% during pregnancy, mostly increasing to uterus (10 times more) and kidneys (50% more).
	How much of the CO goes to the uterus during labour?	50%
	What happens to BP during pregnancy? During labour?	It decreases (the diastolic more than systolic) in pregnancy, and increases by around 30 mmHg during labour.
	How many vessels does the umbilical cord have? What are they are which direction does oxygenated blood flow?	There are 2 arteries that carry deoxygenated blood away from the fetus and 1 vein that brings oxygenated blood back to the fetus.
	Which way does Hemoglobin F shift the O2 disassociation curve? Why?	It shifts it left showing Hf's high affinity for O2, since the fetus is living in a less saturated oxygen environment.
	How do the following products cross (or do not cross) the placenta? Glucose, ketones, insulin, thyroid horomones, PTH?	Glucose - facilitated diffusion Ketones - diffusion (toxic to baby) Insulin - does not cross Thyroid horomones - do not cross PTH - active transport of Ca2+, Mg, Phos, but not PTH itself
	What is the pathway of fetal circulation?	From the umbilical vein half of the blood enters ductus venosus to the inferior vena cava. The other half enters the liver then moves to the right atrium, through the foramen ovale into the left atrium and into the aorta. Some enters the right ventricle and is pumped into the pulmonary into the ductus arteriosus, which directs most of this blood away from the lungs.
	Which part of the gut has a ventral mesentery?	The foregut only.
	What organ is made from both endoderm and mesoderm?	The liver.
	When is the embryological gut herniated? Why? What rotations does it undergo?	6 - 10 weeks, in order to go through rapid growth. It undergoes 2 different rotations, first 90 degrees CCW then another 180 degrees CCW.
	What does bilious green vomiting indicate? Is it an emergency?	Malrotation which can lead to ischemia and bowel death, or atresia which can be a congenital obstruction. Both are medical emergencies (especially ischemia).
	What two remnant structures can cause issues at the umbilibus?	Vitelline duct and urachus can both have fistulas and leaking, one from the small intestine, the other from the bladder.
	What buds off the inferior mesonephric duct? What can this duct become in the male?	The ureteric bud becomes the ureters - they induce formation of the kidneys. This duct becomes the vas deferens, epididymis and seminal vesicles in the presence of testes.
	What do mesothelium, mesenchyme and primordial germ cells form? Where?	The indifferent gonads. Medial to the mesonephros forming the gonadal ridges.
	Where do primordial germ cells originate, migrate to, and when?	They begin in endodermal cells of yolk sac near the allantois. They migrate along the dorsal mesentery to the gonadal ridges where they meet the primary sex cords. From 4 - 6 weeks.
	In males, what do the primary sex cords evolve into, then into which type of cells? What structures do they end up forming?	Primary sex cords grow into the medulla and become medullary cords. Cells then differentiate into Sertoli cells (secrete AMH & make sperm). The sex cords become the seminiferous tubules and the rete testes.
	In females, what happens to the primary sex cords, what other sex cords develop? What structures do they end up forming?	Primary sex cords involute without TDF. Secondary sex cords arise from the epithelium and incorporate primordial germ cells. The cord breaks up and forms 2 million primordial follicles.
	What do the paramesonephric ducts become in the absence of testes?	The proximal ends becomes fallopian tubes, the mid-portions merge together to form the uterus, cervix and superior third of vagina.
	What does the lower 2/3 portion of the vagina form from? What happens if it doesn't fully fuse with the paramesonephric structures?	The sinovaginal bulb in the urogenital sinus develops and grows cranially and caudally. The caudal end finishes with the hymen and the cranial end merges with the top 1/3 from the paramesonephric duct. If incomplete then various septa up to a double uterus form.
	What can congenital adrenal hyperplasia cause? What is it caused by?	It can lead to a drastic increase in testosterone in 46XX which leads to masculinization of the female genitals. It is caused by an enzyme deficiency in the production of cortisol, so ACTH levels become very high.
	How do de novo mutations act in comparison to ancient mutations?	They have a large effect, i.e. Huntingtons, compared to a small effect such as predisposition to diabetes.
	What are forms of indirect and direct genetic testing?	Indirect is looking at a pedigree chart for what is normal around the proband. Direct is looking right at the genome for a mutation.
	What is the athlete triad?	Low fat/low food intake plus increased exercise equals amenorrhea/decreased bone density.
	How many oocytes are there by puberty? What stage do some of them complete and where do they rest at?	400,000 oocytes. Some complete Meiosis 1 and release a polar body of excess chromosomal material. They begin Meiosis 2 and halt at metaphase 2 until fertilization.
	How is the corpus luteum maintained in pregnancy until the placenta forms? Why?	The fetus secretes HCG to maintain the corpus luteum's progesterone secretion and subsequent maintenance of the endometrium.
	What percent of the time is the male or female the cause of infertility.	40% each, 20% both.
	What are the main signs in the sperm of male fertility?	Sperm count >15 million Progressive motility > 32% Morphology > 4% normal
	What is considered a viable age of gestation?	At 24 weeks more than 50% of fetuses will survive if born.
	What might hypotonia, brachyencephaly, brushfield spots, epicanthal folds, a protruding tongue, and a simian crease indicate in a newborn? Are these diagnostic?	Down syndrome, but they are not diagnostic since there are many physical signs that can be found in other conditions, or can be normal.
	Is Down syndrome inherited? Why or why not?	It is only if from a Robertsonian translocation of 14:21. Otherwise it arises randomly from meiotic nondysjunction.
	What is talipes and how are they inherited?	Clubfoot. It has a multifactorial inheritance pattern, so 3 - 5% recurrence rate.
	What is ABS? What can it cause? Is it genetic?	Amniotic band syndrome. It is pieces of sticky ruptured amnion floating around the fetus. It can wrap around limbs or the blood supply causing disruption leading to birth defects. It is a random occurrence that affects 1 in 1200.
	Does Paroxetine cause miscarriage?	Antidepressants double the average risk of miscarriage from 2.7% to 5%.
	What is the difference between deformation, disruption and malformation? When do they occur?	Deformation are birth defects that occur in the 2nd - 3rd trimester from mechanical forces on normal structures, such as oligohydramnios causing talipes. Disruption is when normal structures are interrupted in growth by teratogenic effects or trauma, such as infection or ABS occurring in the 2nd - 3rd trimester. Malformation is a disorder of tissue development from a chromosomal abnormality or chemical exposure. It occurs in the 1st trimester.
	What does assisted reproductive technology (ART) include? What does it not include?	Treatments or procedures that include the in vitro handling of both oocytes and sperm or of embryos for the purpose of establishing a pregnancy. ART does not include assisted insemination using sperm from a woman’s partner or a sperm donor.
	What percent of sexually active couples are infertile?	15%
	What is the probability that intercourse at ovulation will result in pregnancy during one cycle?	20-‐25% in couples less than age 35.
	What age is the peak for number of oocytes?	20 weeks gestation.
	What pregnancy problems begin to double beyond age 35?	Spontaneous abortion, stillbirth and ectopic pregnancy.
	In infertile couples with no known cause, what percent will become pregnant without IVF?	3%
	What is the main concern with controlled ovarian stimulation and intra-uterine insemination? How does IVF get around that?	Superovulation leading to multiple fetuses in the uterus. IVF takes the multiple eggs out and only puts one or two embryos back (can freeze any others).
	How does IVF live birth rate compare to the normal birth rate of fertile couples under 35 yoa?	IVF is 30%, general population is 25%
	How many ova are ideal for IFV and how many are indicative of ovarian hypersensitivity syndrome.	2 - 15 is ideal, getting up to 30 is leading to OHSS.
	How is IVF begun with medications?	A GnRH agonist is used to downregulate the body's GnRH to allow clinicians to control ovulation. FSH and LH is given to strongly stimulate ovulation and mature more than one follicle. When 3 are greater than 18 mm in diameter, an HCG injection is given to initiate ovulation. 36 hours later the eggs are retrieved.
	When is ICSI used in IVF?	Intra-cytoplasmic sperm injection occurs when infertility is a male problem or when frozen.
	What occurs on day 3 or day 5 in IVF? Which has a higher success rate?	An 8 cell embryo, or a blastocyst of 150 - 200 cells are put into the uterus. Day 5 is more successful since the blastocyst is ready to implant.
	What type of genes are BRCA1 and 2? Are they dominant or recessive?	Dominant tumor suppressing genes.
	How many more times likely is a woman to get breast cancer if she has the BRCA1 or 2 mutation?	5 - 6 times. Her lifetime risk is 60% as opposed to the general population of 12%.
	When does the mammary ridge develop in utero? What is another name for it and what does it form?	6 weeks. Also known as the milk line that goes on to form the mammary gland.
	What ovarian hormones affect breast tissue and in which parts of the menstrual cycle?	Estrogen stimulates growth of milk ducts in the first half of the cycle. After ovulation, progesterone stimulates the acini glands.
	What is mammary heterotopia?	Ectopic breast tissue, including supernumerary nipples/polythelia, and polymastia found along the milk line.
	What are some causes of gynecomastia?	Puberty, testicular tumors, adrenal abnormalities, hepatic disease, estrogen therapy, antidepressants, steroids and marijuana.
	What is acute mastitis and when might it occur?	Cellulitis of interlobular connective tissue of the breast. It occurs with cracked or fissured nipples from breast feeding when there is milk stasis and infiltration of staph or strep bacteria.
	What are 4 different inflammatory conditions of the breast?	Acute mastits - lactation Recurring subareola abscess - recurrent, needs drainage, smokers Mammary duct ectasia - granular secretions that may calcify, over 50, smokers Granulomatous mastitis - secondary to TB, silicone, but usually idiopathic
	What are 3 general types of fibrocystic changes that can occur in the breast? Which has the greatest risk?	Non-proliferative, proliferative without atypia, and proliferative with atypia (the greatest risk).
	Which type of atypical breast hyperplasia is a general warning sign in a broad area, and which is a precursor to cancer in a specific site, ductal or lobular?	Ductal is a specific site and progresses to ductal carcinoma in situ and into cancer if over 3 cm. Lobular can occur in any area, duct or lobe and is a general warning sign.
	What are the two types of breast stromal lesions? Are they cancerous?	Diabetic fibrous mastopathy - mimics cancer but is not cancer, uncommon and likely to recur. Pseudoangiomatous stromal hyperplasia (PASH) - appears to be cancer coming from a blood vessel but is not. Generally benign but are removed once palpable.
	What percent of lumps in premenopausal female breast tissue are benign? What about postmenopausal?	In premenopausal women 90% are benign, but in post-menopausal women consider lumps cancer till proven otherwise.
	What percent of breast cancer is ductal in origin?	70%
	Do the more common Phyllodes tumors metastesize? How are they surgically treated? Why?	They do not metatasize. They are excised with a 1 cm margin since they are prone to growing back. Rare malignant ones spread by blood only, not lymphatics, so act more like sarcomas than other breast cancers.
	What are the three main types of malignant neoplams of the breast? What percent of each?	Ductal, 70%, lobular, 15%, and connective tissue, 15%.
	What are the more worrisome types of nipple discharge?	Spontaneous, copious clear, small and bloody, unilateral, or single duct.
	What types of nipple discharge are considered physiological as opposed to pathological?	Non-spontaneous (have to be squeezed out), bilateral, multiple ducts, not bloody.
	What different factors affect how much a teratogen exerts an effect?	Genotype of conceptus Developmental stage during exposure Teratogens act in specific ways on developing tissues Effect grows from none to lethal depending on dosage increase
	What five criteria are needed to deem a substance teratogenic?	Proven exposure at a critical development stage. Two or more high quality epidemiological studies. Careful delineation of specific defect of syndrome. Rare exposure linked to rare defect. Association of exposure to defect should make biological sense.
	What are 5 challenges in assessing if a substance is teratogenic?	Evidence comes from clinical case reports. Epidemiological studies are the only way to gain estimates of exposure to pregnant women. Difficult to tell the difference between drug and underlying illness causing effect. Hard to tell natural prevalence of defect vs. exposure to substance. Cannot do controlled studies.
	What 6 factors affect placental transfer of possibly teratogenic substances?	Concentration in maternal and fetal blood. Rate of maternal blood through intervillous space. Surface area of villous trophoblast. Specific receptors on the trophoblast. Size of area of exchange across fetal capillaries in placenta. Presence of binding or carrier proteins in maternal of fetal blood.
	Does the fetal blood or maternal blood have a higher affinity for CO2? How about O2?	Maternal has higher CO2 affinity, whereas fetal has higher O2 affinity.
	How do the following substances cross the placental membrane? Glucose & lactate Proteins and other large molecules Iron and trace minerals	Facilitated diffusion. Endocytosis. Active transfer/carrier mediated.
	What was thalidomide used for in pregnancy? What effects were seen if given day 21 - 27, 27 - 30 and 30 - 33? What was the rate of effect seen?	It was an anti-anxiety and sedative given for symptoms associated with morning sickness. 21 - 27 days lead to ear defects (anotia) 27 - 30 days was upper limb phocomelia 30 - 33 days was lower limb phocomelia It's teratogenicity rate is 20 - 30%.
	What effect can high levels of Vitamin A and its derivatives have in utero?	Spontaneous abortion, microtia and micropthalmia, CNS defects, thymic agenesis, CV abnormalities, mental deficits, cleft lip & palate.
	What Vitamin A derivative drug has a risk of 25 - 35% major in utero malformations?	Accutane - must have a negative pregnancy test and two forms of contraception used before starting treatment
	What is the prevalence of Fetal Alcohol Syndrome in offspring of heavy drinkers?	10 - 50%, but the overall prevalence is unknown.
	What are 4 classifications of birth defects from alcohol consumption?	FASD - Fetal Alcohol Spectrum Disorders, a wide range of anomolies FAS - Fetal Alcohol Syndrome, atypical facial appearance, heart defects, microcephaly, brain & behavioural anomalies, growth restriction ARBD - Alcohol-Related Birth Defects, no facial abnormalities nor growth retardation, but brain and other impairments ARND - Alcohol-Related Neurodevelopmental Disorder, functional or mental impairments linked to prenatal alcohol exposure
	What does Rubella exposure cause in the fetus? What is the risk of defects if exposed in first 11 weeks, 11 - 12 weeks, 13 - 14 weeks, 15 - 16 weeks, and beyond that?	Microcephaly, mental deficits, cataracts, deafness, congenital heart disease? under 11 weeks, 90% 11 - 12 weeks, 33% 12 - 14 weeks, 24% 15 - 16 weeks, 11% beyond that 0%.
	What are the 5 levels of FDA classification of teratogenicity of medications? What is an example of each?	Category A - no demonstrated risk (prenatal vitamins Category B - animal studies indicate no risk, but no human studies to prove otherwise OR adverse effects in animal studies but not in well-controlled studies (acetominophen) Category C - no adequate animal or human studies OR adverse events in animals but no data on humans (Zidovudine/AZT) Category D - evidence of fetal risk but benefits outweigh risks (Phenytoin anticonvulsant) Category X - proven fetal risks that outweighs benefits of drug (Isotretinoin for cystic acne).
	What are 6 principles for prescribing drugs in pregnancy?	Preconceptual counselling is ideal. Determine if drug is necessary. Weigh maternal health and medication requirements with fetal health. Choose safest drug possible. Use reliable resources for drug info. Arrange consultation when needed.
	How many miscarriages must one have before they are considered recurrent? How common are miscarriages in pregnancies?	When one has 3 consecutive miscarriages they are considered recurrent. 1 in 10 pregnancies ends in miscarriage.
	What are some of the risks to monochorionic/diamniotic twins?	With a shared placenta there are aberrant vascular connections which can predispose to thrombi. This can cause disruptions and congenital abnormalities.
	What is twin-to-twin transfusion syndrome?	Where shared placental twins have an uneven blood supply either from how the placenta forms, from a thrombi in the blood supply, or from the death of one of the twins. In general, one twin gets too much blood, the other not enough. If one dies the blood will pool as the heart no longer helps the circulation. High levels of mortality or morbidity.
	What is echogenic bowel and what can it be a worrisome sign of? What is the rate of abnormality seen with echogenic bowel symptoms?	It is a bowel obstruction seen on ultrasound sometimes caused by a build-up of meconium. 1 out of 10 times it is indicative of a congenital issue. If it does not resolve and the child is born with meconium ileus then it is a strong indicator of CF.
	What is the rate of being a CF carrier in the general public? Which is the most common mutation? What has been gained or lost?	1 out of 29. It is a deletion at Delta F 508 with the loss of a phenylalanine amino acid.
	How is CF screened and diagnosed? How many times does the diagnostic test have to be performed to be considered accurate?	Neonatal heel prick screening, followed up by a sweat test looking for elevated levels of chloride since the chloride channel is defective. It has to be positive on two separate occasions to be considered an accurate diagnosis.
	What could be the condition involved if a 46XX baby is born with ambiguous genitalia? Is this a medical emergency?	Congenital adrenal hyperplasia. CAH can be a medical emergency since the infant can go into adrenal crisis and develop hypotension and shock.
	What condition is likely if a 46XY baby is born with female genitalia and mullerian organs?	Swyer syndrome where no gonads formed, so no AMH was secreted to change the genitals to male.
	What are the three components of psychosexual development?	Gender identity - male or female Gender role - behaviour within culture Gender orientation - choice of sexual partner
	What is MRKH syndrome? What effect does it have on fertility and childbearing?	It is Mayer-Rokitansky-Küster-Hauser Syndrome, or Mullerian agenesis. The Mullerian ducts fail to form and mature, so no fallopian tubes, uterus nor upper portion of the vagina form. There are ovaries and normal hormonal levels, so women are able to produce ova but cannot carry a pregnancy. Surrogate mothers can be used to carry the baby to term.
	What are the 4 compartments to consider for problems in female reproductive health?	Compartment 1 - disorders of uterus and outflow tract Compartment 2 - disorders of ovarian function Compartment 3 - disorders of the pituitary Compartment 4 - disorders of the hypothalamus
	What does an elevated AFP mean is occurring in the fetus? What conditions can this point to?	Elevated alpha fetoprotein means that the fetuses main circulating protein is leaking out of its body and into the amniotic fluid. This can show signs of neural tube defects, or gastroschisis.
	What type of bladder dysfunction can be seen in spina bifida in the lumbar region?	Neurogenic bladder, in which the sympathetic, parasympathetic and skeletal muscle nerves are all affected and lose the coordinated response needed for bladder continence.
	What embryonic process is not completed in spina bifida, encepahlocele, and anencephaly?	Neurolation is not completed, specifically the caudal neuropore, the lower craniopore, or the upper craniopore.
	What can prenatal exposure to valproic acid cause?	Spina bifida.
	What are the 4 main movements the fetus undergoes moving through the birth canal?	Internal rotation, extension, external rotation, expulsion.
	What is the preferred location of the occiput while pushing in a normal vaginal delivery?	Occiput anterior.
	What is a Bishop's score and when is it used? What does a score below 5 mean? How about above 9?	It is a pre-labour score based on 5 components (cervical dilation, cervical effacement, cervical consistency, cervical position, fetal station), to see whether labour needs to be artificially induced. A score below 5 means labour will not likely start within a safe timeframe. A score above 9 means labour will most likely be spontaneous and needs no intervention.
	Is newborn screening mandatory?	It is not mandatory, however provinces are mandated to provide it for those who want it.
	What criteria make for a good screening test?	The disease in question should constitute a significant public health problem, meaning that it is a common condition with significant morbidity and mortality. have a readily available treatment with a potential for cure that increases with early detection. The test for the disease must be capable of detecting a high proportion of disease in its preclinical state be safe to administer be reasonable in cost lead to demonstrated improved health outcomes be widely available, as must the interventions that follow a positive result.
	What will happen to girls growth in height after menarche?	Her growth spurt is likely done and she will only grow a bit more in height.
	When is the peak growth curve in females? How about in males?	12 in girls and 13 - 14 in boys.
	What is the emotional focus of children and adolescents at these different stages? How is their future focus evolving? Age 10 - 13, 14 - 16, 17 +	10 - 13, appearance, friends of the same sex, concrete thinking, not focused on tomorrow 14 - 16, risk taking, peer pressure, 'who am I', experiment with ideas Age 17+, future focused, intimate relationships, operational planning
	What factors are important in creating a conducive environment for interviewing an adolescent?	Triangle of communication (means include parents or others there, but speak to adolescent as an equal), discuss confidentiality, explain and separate adult from adolescent, discuss risk taking activities, plan for follow-up, focus on their resiliency and strengths that are protecting them.
	Can someone under 12 consent to sexual activity? How about 12 and 13?	Under 12 cannot consent to sexual activity, but a 12 to 13 year old can if it is with someone no more than 2 years older.
	Who can a 14 - 15 year old consent to having sex with in terms of age?	With someone no more than 5 years older.
	What are some specific examples in sexual health that need to be respected for a mature minor?	Their own health care, contraception, morning after pill, confidential STI treatment.
	How common is chlamydia in Canadian adolescents?	1 in 10 females in the 15 – 24 age group will get chlamydia.
	What are the three types of erections?	Genital-stimulated (contact or reflexogenic), central-stimulated (noncontact or psychogenic), and central-originated (nocturnal).
	What are the two categories erectile dysfunction is classified in? What percent does each play in ED?	Psychogenic (20%) and organic (80%).
	What are risk factors for erectile dysfunction?	Hypertension, hyperlipidemia, diabetes mellitus, heart disease, history or radiation or surgery for prostate or other pelvic cancers, chronic alcohol use, prescription and recreational drug use, smoking.
	What systems are important to evaluate during the physical examination in a male for erectile dysfunction?	Overall health including mental status; cardiovascular; neurologic; and genitourinary systems.
	What can ADHD lead to in adolescent sexual health?	Earlier initiation of sexual activity and intercourse, more sexual partners, more casual sex, and more partner pregnancies.
	What is Kohlberg's Theory of Moral Development?	Adolescents at the conventional level of reasoning, have a basic understanding of conventional morality, and can reason with an understanding that norms and conventions are necessary to uphold society.
	What does parental support, control, and knowledge help form in their children in terms of adolescent sexual health?	Delay of first sexual intercourse, safer sexual practices, and higher sexual competence.
	What does effective prevention and management of STIs require on the part of the health care practitioners?	1. Assessing the reason for a consultation. 2. Knowing about STI risk factors and epidemiology. 3. Performing a brief patient history and STI risk assessment. 4. Providing patient-centred education and counselling. 5. Performing a physical examination. 6. Selecting appropriate screening/testing. 7. Diagnosing by syndrome or by organism and post-test counselling. 8. Treating. 9. Reporting to public health and partner notiﬁcation. 10. Managing co-morbidity and associated risks. 11. Following up
	What is the most lethal renal malignancy? What percent does it make up of all adult malignancies?	Renal Cell Carcinoma, it makes up 2 - 3% of adult malignancies.
	How are most cases of renal cell carcinoma detected? If not this way, what is the classic triad it presents as?	Usually picked up as 'incidenalomas'. The classic triad is flank pain, hematuria, and palpable mass.
	How is renal cell carcinoma treated? How effective is chemo? Radiation?	It is a surgical treatment with total or partial nephrectomy. Chemotherapy and radiation are largely ineffective.
	What is hydronephrosis and what extrinsic and intrinsic things can cause it?	Hydronephrosis is swelling of one kidney due to a backup of urine. Extrinsic causes are: Ureteropelvic junction obstruction (crossing vessel), Aneurysm (aortic or iliac), Tumor/mass effect, Retroperitoneal fibrosis, Urinary retention/obstruction, Pelvic organ prolapse, Gravid uterus. Intrinsic are: Stones, Transitional cell carcinoma, Stricture, Congenital adynamic segment, Bladder stones and obstuction, Prostate cancer with local invasion, Blood clots, Sloughed papillae
	What is the gold standard test for picking up kidney stones?	CT scan (without dye needed, so also good for those with renal insufficiency)
	What is the greatest risk factor for Transitional Cell Carcinoma? What percent of people with it have painless hematuria?	Smoking is the greatest risk for bladder cancer. 85% will have painless hematuria.
	What urine test finding means a call to the urologist, especially if there is no UTI?	Gross or microscopic hematuria (2 RBCs show up on high power field).
	What precent of bladder cancer at presentation is low grade, and what is high grade?	60% low (of which 80 - 90% go on to cure or no progression) 40% high (of which 50% are invasive or metastatic)
	What would a high-riding testicle, in a “horizontal lie”, with swelling and edema, and absence of cremasteric reflex indicate?	Testicular torsion, a medical emergency.
	If you suspect testicular torsion what investigation should you do?	Urgent scrotal ultrasound looking for blood flow around testicle, or its absence.
	What might you consider as the source of epididymitis in a man under 35? How about over 35?	Under 35, think STI (gonorrhea, chlamydia, or E. coli). Over 35, think gram neg. from the urinary tract.
	What age range is testicular cancer most common in? Is it more prominent in a particular ethic group? What is the most common type?	Age 15 - 34. Caucasians are most at risk. 95% of the time it is germ cell tumors (seminomas and nonseminomas).
	How much does having had an undescended testes increase the risk of testicular cancer?	10 times.
	What percent of cancer is based on heredity? What percent is sporadic?	5 - 10% heredity 90 - 95% sporadic
	What types of cancer does someone with the Lynch gene have higher risks of? How is the gene passed down?	Colon, endometrial, stomach/small bowel, ovarian are the most common, with a slight increase in urinary tract, brain, pancreas and biliary tract cancers. It is an autosomal dominant gene.
	What increase in cancer risk for breast and ovarian cancer does having the BRCA 1 /2 genes cause?	60% lifetime risk of breast cancer compared to 11% in the general public. 15 - 40% ovarian cancer compared to 1.4%.
	How are the BRCA mutations passed on?	Autosomal dominant.
	How common is chlamydia in Canadian adolescents? What percent of females aged 15 - 24 will become infected?	65000 reported cases annually (in 2006). 1 in 10 gals will contract it.
	What are the laws regarding age limits and consent to have sex?	The age of consent is 16 as long as it is without any exploitation by someone in a position of authority (in which case it is 18). People 14 or 15 can consent if the older partner is no more than 5 years older. 12 or 13 year olds can consent to sex with someone no more than 2 years older.
	What is the most common presentation of chlamydia in males and females? What are the long term risks for females?	Asymptomatic. Can develop into pelvic inflammatory disease in females, leading to infertility or risk of ectopic pregnancies.
	What percent of newly diagnosed cases of HIV infection are in people over the age of 50?	10 - 15%
	What three types of erection can occur?	Genital-stimulated (contact or reflexogenic), central-stimulated (noncontact or psychogenic), and central-originated (nocturnal).
	How is erectile dysfunction classified? Which type is most common?	Psychogenic and organic, with 80% being organic in origin.
	What percent of erectile dysfunction can be medication related?	25%
	What percent of women worldwide have sexual concerns? What percent report personal distress from this?	40% worldwide, with around 20% for distress.
	What are the 4 phases of the female sexual response cycle? Are they alway in this sequence?	Excitement, Plateau, Orgasm, Resolution. They can vary in order or may be absent.
	Which form of menopause has a more adverse effect on sexual arousal and function, medical or natural?	Medical menopause.
	What medical conditions can affect sexual desire in females?	Neurologic - i.e. MS and Parkinson’s Endocrine - Elevated prolactin, ?DM Hypertension - ?HTN vs. meds Other - Renal failure and other chronic conditions Gynecologic concerns - childbirth, prolapse, pain with endometriosis, fibroids or cysts
	What is the primary determinant of female sexual satisfaction?	Relationship factors.
	What are the APA diagnoses of female sexual dysfunction? What is a key factor in all of these diagnoses and why?	- Hypoactive Sexual Desire Disorder - Female Sexual Arousal Disorder - Female Orgasmic Disorder - Dyspareunia - Vaginismus (involuntary spasm of the musculature of the outer third of the vagina) The key factor is they all must be persistent situations and must cause marked distress or interpersonal difficulty, since it is common for any female to experience all the above periodically.
	Is a hormone test effective in discerning sexual satisfaction disorders in females?	No, there is not a correlation between hormonal levels and sexual issues.
	What hormonal medication can help sexual satisfaction in post-menopausal women?	Vaginal estrogen to keep the local tissue healthy.
	What class of medications can affect sexual function in females? Why?	Selective serotonin re-uptake inhibitors (which are used for depression or anxiety disorders). They likely inhibit dopamine, which is involved in sexual arousal.
	What 2 ways can neoplasms be classified?	By clinical behaviour, i.e. Benign (slow growing, encapsulted, do not metastasize) vs. malignant (fast growing, invades adjacent tissue, no capsule, do metastasize) AND Histological origin, i.e. Epithelium & excretory = carcinoma, Mesenchymal = sarcomas Neural & melanocytic = neuroblastoma/melanoma Hematopoietic & lymphoid = leukemia/lymphoma Germ cells = teratomas
	What suffix often distinguishes between a benign and malignant tumor?	'Oma' usually means benign, whereas 'sarcoma' means malignant (melanoma is one of a few exceptions to this rule).
	What is the 4th most common cancer in men? How lethal is it?	Bladder cancer. It is less lethal since it is 10th in terms of lethal cancers.
	What are some other risks for bladder cancer other than smoking?	- long term use of analgesics - chronic bladder irritation (chronic UTIs, indwelling catheters) - bladder irradiation from other malignancy treatments i.e. prostate CA treatment
	How are the urothelial bladder tumors classified?	As papillary or flat.
	What are the two determinants for a positive prognosis in urothelial neoplasia?	Stage and grade at diagnosis. Stage refers to how far it has spread (it is the best predictor of prognosis). Grade shows how much the tissue has changed.
	Which proteins does HPV use to create its effects in cervical cancer?	E6 and E7 - they are oncogenic by inactivating two tumor suppressor genes pRb (leads to proliferation) and p53 (loss of ability to induce apoptosis).
	Which type of mature cell tissue does HPV prefer? Permanent (neurons, cardiac, sk. muscle) Stable (liver cells, renal parenchymal cells) OR Labile (epidermis, mucosal epitherlium)	Labile tissue since it is undergoing much more rapid cell division which allows for greater proliferation.
	What is a histological sign that helps determine an inflammatory process from dysplasia in the cervix?	The transition of change between the appearance of cells in an inflammatory process will be gradual, whereas in a dysplastic process there will be a sharp delineation between the original and the changed areas.
	What causes urinary and bladder changes in women as they age? In men?	In women, the pelvic floor muscles are the greatest determinants in continence. In men, the size of the prostate is the greatest change in urination in age.
	Which sphincter is in charge of passive continence? How is it controlled? How about active continence and its control?	Passive control is smooth muscle of bladder neck and proximal urethra. It is under involuntary control. Active continence is under control of the striated sphincter. It is a bulky skeletal muscle lateral to urethra in men, and in the middle segment in women, under voluntary control.
	What are the goals of the bladder?	1. Filling - Efficient and low pressure 2. Storage - Low pressure, with perfect continence 3. Emptying - Periodic complete urine expulsion, at low pressure, when convenient
	What reflex does tightening the external urethral sphincter stimulate?	It stops the internal sphincter from relaxing and stops the detrusor muscle from contracting.
	What are the 2 phases of bladder functioning?	PHASE 1 - Bladder Filling and Storage, Filling at low pressure, Bladder outlet that is closed, Absence of involuntary bladder contractions, a “stable” bladder PHASE 2 Bladder Emptying/Voiding: Coordinated contraction of bladder smooth muscle, Concomitant relaxation and lowering of resistance of the sphincter, Absence of anatomic obstruction
	What sympathetic, parasympathetic and somatic nerves are involved in bladder control?	Hypogastric Nerve (Involuntary, control of bladder neck and intrinsic sphincter) Pelvic Nerve (Involuntary, contraction of detrusor muscle) Pudendal Nerve (Voluntary contraction or relaxation of external sphincter)
	What type of medication helps with urethral obstruction from an enlarged prostate?	Alpha blockers, since there are smooth muscle alpha receptors in the prostate. Blocking their receptors reduces their contraction to relax the urethra.
	What are anti-muscarinic medications for?	They block receptors in the bladder, leading to relaxation of the muscle and relief of over active bladder.
	How are lower urinary tract symptoms classified?	Storage (urgency, frequency, nocturia, incontinence) and Voiding (hesitancy, poor flow, intermittency, straining, terminal dribble) (including post-micturation - post void dribble, incomplete sense of emptying)
	What is urgency, with or without urgency incontinence, usually with frequency and nocturia the definition of?	Bladder Overactivity (OAB)
	What are the three general causes of overactive bladder?	Idiopathic – no cause (related to aging) Neuropathic - (stroke, Parkinson’s disease, MS, Alzheimer’s disease, brain tumor) Other Cause/Bladder irritation - (UTI, bladder CA, stones)
	What is stress urinary incontinence (SUI) defined as? What percent of women will have this by age 60.	Complaint (symptom) or observation (sign) of involuntary leakage from the urethra on exertion or effort, coughing or straining. 49%.
	What type of incontinence is proceeded by a strong feeling of needing to urinate?	Urgency incontinence.
	What is the gold standard for urinary leaking in women and men?	Urethral sling for both, or an artificial urinary sphincter in men.
	What causes emptying/voiding failure in the bladder?	Bladder Underactivity - failure of bladder contractility from alteration in one of the neuromuscular mechanisms necessary for initiating and maintaining detrusor contraction Outlet Overactivity or Obstruction - due to anatomic obstruction (enlarged prostate), failure of relaxation of sphincter (BN obstruction), active contraction of sphincter during bladder contraction (Detrusor sphincter dysynergia - DSD in high SCI), urethral stricture
	What are three common symptoms in bladder rupture? What two distinctions are made between locations of rupture?	The triad of symptoms are: suprapubic pain, difficulty or inability to urinate, and hematuria. Extraperitoneal and intraperitoneal are the two areas it can rupture urine into.
	Which nerves control emission and ejaculation?	Pudendal nerve from S2 - 4 Hypogastric sympathetic nerves from T12 - L2.
	Which nerves are involved in an erection?	Pudendal nerve from S2 - 4 Parasympathetic nerves from S2 - 4
	Why is hematuria in bladder cancer painless?	There is no inflammation involved.
	Where does 90% of the testis blood supply arise from and travel through?	It arises from the abdominal aorta near the kidneys and travels through the internal spermatic testicular artery.
	What is a varicocele? How common is it, and how common in men with low fertility?	It is dilated and tortuous veins of the pampiniform plexus. They occur in 15% of men, and 40% of men with fertility problems.
	On which side is a scrotal varicocele more common and why?	It is more common on the left since the left pampiniform plexus drains on a 90 degree angle into the renal vein, whereas the right plexus drains directly into the IVC at an easier oblique angle.
	On which type of scan does adipose tissue show up white, MRI or CT scan?	MRI
	What are Leopold Maneuvers for? What are the 4 different positions?	Used to determine fetal lie, presentation & position. First maneuver: Fundal Grip, is it feet or head at the fundus? Second maneuver: Umbilical Grip, (on either side of umbilicus), which side is the back and which is limbs folded up Third maneuver: Pawlick's Grip (grasp above pubic symphysis), confirm where head or feet are Fourth maneuver: Pelvic Grip (facing mother's feet, grip either side of low abdomen), which part is entering the pelvic inlet?
	Describe the 4 pelvic types and the fetal presentation it is associated with.	Gynaecoid (50%) - best for vaginal delivery, slightly transverse oval inlet, occiput anterior Anthropoid (25%) - Long anteroposterior diameters, short transverse diameters, usually presents occiput posterior Android (20%) - Triangular or heart-shaped inlet with anterior narrow apex, worst for vaginal delivery Platypelloid (5%) - short anteroposterior diameters, long transverse diameters, face presentation or occiput transverse
	What is the minimum span for the pelvic inlet/diagonal conjugate for a vaginal birth? What is the minimum span for the pelvic outlet/diameter between the ischial tuberosities?	> 11.5 cm for inlet > 8 cm for outlet
	What is the normal rate and rhythm for the fetal heart beat?	110 - 160 bpm, regular with variability and accelerations (with fetal movement).
	What are the standard components of the physical examination at a second or third trimester prenatal visit?	 Blood pressure (BP)  Symphysis-Fundal Height (SFH)  Leopold Maneuvers  Auscultation of the fetal heart rate & rhythm (FHR)
	What 3 things occur during the 'week of 2s' in embryology?	Trophoblast differentiates into 2 layers (cytotrophoblast and syncytiotrophoblast). Embryoblast forms 2 layers (epiblast and hypoblast) Extraembryonic mesoderm splits into 2 layers (2 cavities form, yolk sac & amniotic cavity)
	What is the definition of erectile dysfunction (ED)?	The consistent or recurrent inability of a man to attain and/or maintain a penile erection sufficient for satisfactory sexual performance.
	Is erectile dysfunction a necessary consequence of aging?	No it does go up with age but because it is the associated medical conditions or lifestyle choices increase the risk factors and compound with age, but not purely from age itself.
	Is erectile dysfunction over diagnosed?	No, erectile dysfunction is underdiagnosed due to a reluctance of patients and healthcare providers to discuss sexual function.
	What is the average range of men with erectile dysfunction by age for 40, 50, 60 and 70 year olds?	40%, 50%, 60% and 70%.
	What can erectile dysfunction be a warning sign of for later on?	Cardiovascular disease.
	What are differential diagnoses for erectile dysfunction that Viagra won't work for?	• Decreased libido • Painful intercourse • Premature ejaculation • Retrograde ejaculation • Anorgasmia
	What are first line treatments for erectile dysfunction? How about second and third line treatments?	Prior to first line is look at modifiable risk factors (smoking, excessive alcohol) First line is counselling (marital or sex), and PDE5 inhibitors (dealt with at the GP level) Second line are vacuum devices, injectable agents, intraurethral therapy (at the urologist) Third line are surgical prosthesis
	What other medications are of concern if someone is on PDE5 for erectile dysfunction?	Nitrate medications for angina and other cardiac diseases since they act in a similar way and blood pressure can go too low.
	What meds are used for intercavernosal infection for ED?	Triple P or Tri-Mix Papaverine Phentolamine Prostaglandin
	What does intersex mean?	The presence of intermediate or atypical combinations of physical features that usually distinguish female from male
	What is transsexualism?	An individual's identification with a gender inconsistent or not culturally associated with their assigned sex and may lead to medical interventions such as sex reassignment therapy.
	How do 'combined contraceptive' medications work? (OCP, patch, vaginal ring)	They suppress pituitary secretion of FSH and LH, including suppressing the LH surge. This prevents ovulation. In addition, they thicken cervical mucous so it is less penetrable by sperm, and thin the endometrium so less ability to implant.

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