PROLOG: Cross Content Flashcards
Noonan Syndrome
AD disorder that causes multiple congenital abnormalities - part of a group of related disorders known as RASopathies. About 50% of cases are caused by mutations in the PTPN11 gene. Other RASopathies include cardiofaciocutaneous syndrome, Costello syndrome, and NF1
Key Characteristics: short stature, abnormal facial features, congenital heart defects (pulmonic stenosis) intellectual disability, pectus deformity, renal abnormalities
What is the leading genetic cause of infant death?
SMA
AR condition which causes degeneration of spinal cord motor neurons that leads to atrophy of skeletal muscles and overall weakness
Which thyroid function test result is increased in a normal pregnancy?
Total T3 and T4 levels are markedly increased during pregnancy because of increased serum thyroid-binding globulin levels.
Thyroid changes in pregnancy
- Maternal total or bound TH levels increase with serum concentration of TBG.
- Level of thyrotropin (aka TSH) decreases in early pregnancy because of weak stimulation of TSH receptors caused by substantial quantities of hCG during first 12 weeks of gestation. TH secretion is thus stimulated, and the resulting increased serum free T4 levels suppress hypothalamic thyrotropin-releasing hormone, which in turn limits pituitary TSH secretion.
- After 1st tri, TSH levels return to baseline values and progerssively increase in 3T related to placental growth and production of placental deiodinase.
Origin of the fetal umbilical arteries
Internal iliac arteries
Umbilical arteries arise from the anterior branch of the internal iliac arteries. They present the dominant outflow of the distal aortic circulation. They. purely mirror the downstream resistance of the placental circulation. Normal UA resistance falls progressively through pregnancy, reflecting the increased number of tertiary stem villous vessels.
The umbilical arteries cary deoxygenated blood away from the fetus toward the placenta. After birth, a significant distal portion of the UA degenerates and later obliterates and eventually becomes a solid fibrous cord, termed the medial umbilical ligaments. The proximal portions of the UAs are the superior vesical arteries.
What are the contents of the superficial perineal space?
- Corpora cavernosa of the clitoris
- Corpus spongiosum of the vestibular tissue
- ischiocavernosus
- Bulbospongiosus
- Superficial transverse perinei
- Branches of the pudendal vessels and nerves, as well as urethra and vagina
Course of the ureter
Ureter enters pelvis at level of bifurcation of common iliac a (above it) > medial to ovarian vessels > medial to branches of internal iliac a. > under uterine a. > near cervix into bladder
In nonpregnant population, what is the gold standard for diagnosing peptic ulcer disease?
Treatment?
EGD with biopsy
Treatment: 14 days of PPI, amoxicillin, clarithromycin
ADA diabetes screening guidelines
Start at age 45 in normal weight patients
In patients who are overweight (BMI >25), recommend screening when one or more additional risk factors are present (45 yo, 1st degree relative with diabetes, sedentary lifestyle, high-risk ethnic or racial group, history of GDM, HTN, dyslipidemia, PCOS, history of vascular disease)
Once screening starts, recommend q3y
At what gestational age does the luteo-placental shift occur?
7-9 weeks
Progesterone produced by the CL is critical to maintain early pregnancy. Placenta takes over progesterone production at 7 to 9 weeks’ gestation.
What is the MOST helpful test for the diagnosis of von Willebrand disease?
Factor VIII
vWD is a disorder that affects 1-2% of the population. vWF is a protein that adheres to damaged vessels, which leads to platelet activation and adhesion. In addition to platelet adhesion signaling, vWF binds factor VIII and prevents its degradation.
The vaginal artery branches from which vessel?
Uterine artery (or anterior portion of internal iliac)
What are the branches of the anterior division of the internal iliac artery?
- Superior vesical
- Middle vesical
- Inferior vesical
- Middle hemorrhoidal
- Obturator
- Internal pudendal
- Sciatic
- Uterine
- Vaginal (can also branch from the uterine)
First-line treatment for GnRH-dependent precocious puberty (i.e. hypothalamic hamartoma)
GnRH agonists (leuprolide acetate)
At how many weeks of gestational age do fetal RBCs start to appear?
CORRECT order, from superficial to deep, of the structures transected during a midline episiotomy
Skin > subcutaneous tissue > perineal body > superficial transverse perineal > deep transverse perineal
What fetal position is MOST associated with anthropoid pelvis?
Cephalic occiput posterior position
Thalassemia findings
If the patient is of Southeast Asian descent and the hemoglobin electrophoresis is normal, the patient should be evaluated for alpha-thalassemia via molecular genetic testing.
Signs of Magnesium Toxicity and associated serum magnesium levels
Magnesium Sulfate Pharmacology
Indications, side effects, contraindications, toxicity (hypermagnesemia)
