OB Exam 1 Study Guide PDF

Exam 1 Study Guide 1. What is necessary for the expression of recessive and dominant gene mutations and what are some examples of each? § Genotype: genetic makeup of individual § Phenotype: ways genes are expressed in an individual o Genetic condition, hereditary diseases, eye co...

Exam 1 Study Guide 1. What is necessary for the expression of recessive and dominant gene mutations and what are some examples of each? § Genotype: genetic makeup of individual § Phenotype: ways genes are expressed in an individual o Genetic condition, hereditary diseases, eye color, hair texture, etc. § Individuals inherit 2 versions of each gene (alleles) from each parent – some are dominant traits and others are recessive traits o Inherit one allele from each parent o Dominant trait – will express the gene/trait masking other alleles (recessive) § Example: Huntington’s Disease o Recessive trait – will express the gene UNLESS the child has BOTH recessive genes § Example: Sickle Cell Anemia § Important to do genetic testing: Ask about family history in case the parents have recessive genes for a genetic condition and see what the chances of their offspring are getting the disease as well 2. What is a sex-linked gene mutation? § Dependent on dominant or recessive gene on either the X or Y chromosome § X linked inheritance: can be on both AFAB and AMAB however for AFAB individuals it will be expressed if BOTH partners are carriers and for AMAB individuals they will express the gene if they carry the affected X-chromosome o Even if X gene is recessive, it becomes dominant for males § Y linked inheritance: only affects the Y chromosome therefore it is only passed down to AMAB individuals and is expressed if they carry the gene  3. What hormones are implicated in the physiologic changes of pregnancy? § Estrogen o FSH (follicle stimulating hormone) stimulates the follicle to secrete estrogen which helps to promote the maturation of the ovum o During the positive feedback book: with the increase of FSH and LH due to the increase of estrogen, it caused a lot of energy for the mature ovum to be released from the follicle § Occurs during ovulation in the ovarian phase cycle and the end of proliferative phase during the endometrial cycle § Progesterone o Increases during secretary phase of endometrial cycle and luteal phase of the ovarian cycle o If conception occurs, then endometrial lining continues to increase, and zygote multiplies o If no conception occurs, then shedding of uterine lining occurs and release of egg out of the body during luteal phase 4. How do the physiologic changes of pregnancy manifest themselves? (For example, if vascular resistance decreases, what does this look like in the patient?) Main take aways § Increase blood volume à Increase in RBC, WBC, cardiac output, etc. § Increase estrogen and progesterone affects almost all systems ⬆ Estrogen Breasts: enlargement of breasts ⬆ Progesterone § Initially produces progesterone in corpus luteum then eventually from placenta (Pro-gestation) § Increase in size and weight § Tender, fullness, tingling sensation NOTE: § Increased blood Progesterone slows § Striae – starching skin and relaxes § Prominent veins Uterus: hypertrophy of walls Estrogen increases § Amenorrhea and cessation of ovulation blood flow and § Contractibility increases as estrogen levels increase – for labor swelling Cervix: mucus plug formed § Hypertrophy of cervical glands – barrier to help maintain sterility Vagina: § Softening of muscles and connective tissue, and increase vascularity and hypertrophy of vaginal and cervical glands (leukorrhea – white cervical discharge) Respiratory System: increase and enhance respiratory function § Increased by 15-20% § Increased RR, Increased Inspiration, Decreased expiration § Slight hyperventilation and respiratory alkalosis § Vascular engorgement and smooth muscle relaxation: dyspnea, nasal/sinus congestion, and epistaxis § Estrogen causes relaxation of ligaments and joints of ribs  Renal System (progesterone) § Smooth muscle relaxation causing urinary frequency and incontinence § Increased UTI Gastrointestinal System: (progesterone) slows down stomach emptying causing reflex of gastric contents – heartburn § Slows down smooth muscle – stomach caused gastric reflux, intestine causing bloating and constipation § Risk of gallstones (decreased muscle tone in gallbladder) § Increase estrogen à increased vascular congestion of mucosa causing gingivitis, bleeding gums, increased risk of periodontal disease (hospitalization can occur) Musculoskeletal System: very flexible § Increased progesterone and relaxin o Softening of joints, increased joint motility causing altered gait, facilitated birthing process, low back pain or pelvic discomfort, risk of falls § Increased estrogen and relaxin o Increased elasticity and relaxation of the ligaments causing increased joint pain and injury Integumentary System: § Increases melanin deposition causing light to dark brown pigmentation causing linea nigra à dark line on abdomen § Increased pigmentation on nipple and areola, scars, etc. § Melasma à darkening around eyes § Progesterone: Increase in body temperature – perspiration § Estrogen: leads to color and vascular changes Endocrine System: § Decreased FSH = amenorrhea § Progesterone AND Estrogen – uterine and breast development, increases vascularity, hyperpigmentation, alters metabolic process and fluid and electrolyte balance ⬆ Prolactin Breasts: mild production (Pro-lactation) § Produced by anterior pituitary § Increased growth of mammary glands, lactiferous ducts, and alveolar system § Production of colostrum (rich in antibodies, produces around 16 weeks’ gestation) Endocrine System: facilitated lactation Enlargement Uterus: Increased 20x non pregnant size (Review image on slide Cardiovascular System: in supine position enlarged uterus compresses Inferior Vena Cava – causes reduced blood floor and drop in cardiac output and decreases BP = supine hypertension syndrome Renal system: dilatation of renal pelvis and ureters causes them to elongate decreasing motility and increasing the risk of UTI § Decreased blaster tone with increased bladder capacity § Easier for bacteria to enter bladder and be trapped in bladder Gastrointestinal System: Displacement of organs due to enlarged uterus Musculoskeletal System: abdominal stretching due to enlarged uterus  § Diastasis recti à stretching and separation of muscles in abdominal wall § Round ligament spasm Endocrine System: enlarged thyroid due to hyperplasia and increased vascularity of thyroid, and heat intolerance/fatigue Expanded Uterus: blood flow to uterus is 50-60% more than non-pregnancy body (500-600mL/min) Circulatory leading to increased vascular congestion Volume Renal System § Increased CO, blood, and plasma – increasing renal blood flow by 50-80% in 1st trimester then decreases ⬇ pH (Acidic) Uterus, Cervix, Vagina § Inhibits growth of bacteria § Allows growth of Candida Albicans (increased risk of yeast infections) ⬇ Peripheral Cardiovascular System: Decreased BP at the beginning of pregnancy vascular § Increased venous pressure and decreased blood flow to extremities causing resistance edema and varicosities in legs ⬆ Blood Cardiovascular System: hypervolemia, anemia, increased heart size, hemodilution volume, RBC, (increased plasma volume), coagulation inhibiting factors decrease, edema WBC, plasma ⬇ Iron Cardiovascular System: decreased in pregnant person causing anemia but increases demand for fetal development = iron-deficient anemia § Can cause nausea and conception when supplements are given § Hemoglobin =