OB-GYN Flashcards
(457 cards)
Noonan syndrome
- an autosomal dominant genetic disorder of congenital malformations.
The characteristic phenotypic features of Noonan syndrome are:
- characteristic facial dysmorphic features: hypertelorism, downward slanting eyelid slits, ptosis, low-set ears with a thickened rim, wide short neck, sometimes with fluff features
- organ abnormalities: defects of the cardiovascular system (especially pulmonary valve stenosis), kidney defects, cryptorchidism in boys,
- abnormalities of the skeletal system: short stature, deformities of the sternum (shoemaker’s or chicken’s chest), valgus of the elbows, scoliosis, vertebral defects (semi-circles), rib defects,
- usually a light blue color of the irises
- disorders of the lymphatic system
- tendency to ecchymosis,
- blood clotting disordershearing loss,
- deafness.

Prader-Willi syndrome (PWS)
is a birth defect syndrome caused by a deletion in the long arm of the father’s chromosome 15.
The disease occurs with a frequency of 1: 10 thousand. up to 1: 50,000 live births. In older sources, the acronym -HHHO was used, derived from the words: hypotonia-hypomentia-hypogonadism-obesity, that is: muscle hypotonia, mental retardation, underdevelopment of the genital organs, obesity
. The characteristic morphological features include: bulging forehead, amygdala eyes, narrow face, small lower jaw, small hands and feet.
Angelman syndrome
is a neurogenetic disorder that is caused by the inactivation of the UBE3A gene (E3 ubiquitin ligase), the product of which combines ubiquitin with a protein product to be degraded. As a result of the mutation, pathologically large amounts of protein accumulate, which disrupts the development and function of the CNS.
The syndrome is manifested by intellectual disability, seizures that are difficult to control, impaired speech development, uncontrolled bouts of laughter and movement stereotypes (the so-called happy puppet syndrome).
Klinefelter’s syndrome
is a genetically determined genetic disease that belongs to numerical aberrations with at least one additional copy of the X chromosome (47 XXY).
Klinefelter’s syndrome is the most common cause of male hypogonadism, with a frequency of 1: 500-1: 1,000 live-born male newborns.
The most typical features of these patients are tall stature, feminine silhouette, long limbs and small testicles.
Alport syndrome
genetically conditioned disease (type IV collagen defect)
revealed in childhood
Clinical picture of the disease:
progressive nephropathy
micro/macrohematuria
later, increasing proteinuria appears
may be accompanied by hypertension
the disease leads to end-stage renal disease
bilateral sensorineural hearing loss
eye changes:
- lenticonus
- pigmented retinal changes
- corneal ulcers
leiomiomatosis
aneurysms
Magnesium Sulfate MOA
decreases uterine tone and contractions by acting as a calcium antagonist and a membrane stabilizer.
Terbutaline MOA
acts by increasing conversion of ATP to cAMP, which decreases free calcium ions through sequestration in the sarcoplasmic reticulum.
Calcium channel blockers
decrease intracellular calcium, which reduces uterine contractility
Indomethacin MOA
blocks the enzyme cyclooxygenase and decreases the level of prostaglandins, which decreases intracellular levels of calcium and therefore decreases myometrial contractions.
Flushing, diplopia, and headache are common side effects of
magnesium sulfate
Women taking terbutaline often note
headache, tachycardia, and anxiety.
Calcium channel blockers such as nifedipine can cause
headache, flushing, and dizziness.
indomethacin has been associated with
the premature closure of the ductus arteriosus in the neonate.
The most effective test to monitor patients for magnesium toxicity is through
serial DTR examination. DTRs are diminished and then lost with magnesium serum levels between 6 and 10 mg/dL.
Toxic levels of magnesium (>10 mg/dL) result in respiratory depression, hypoxia, and cardiac arrest.
Serial DTR examination is therefore a cost-effective screening test for magnesium toxicity.
Serum levels are not necessary unless there is concern for absent DTRs or patients show symptoms of respiratory depression.
Rubin maneuver.
This maneuver involves pressure on either fetal shoulder to diminish the biacromial diameter in an effort to free the anterior shoulder and allow delivery of the fetus.
McRoberts maneuver is described first and involves
flexing the maternal hips, which results in ventral rotation of the maternal pelvis and an increase in the size of the pelvic outlet.
It is the least invasive of maneuvers.
Next, suprapubic pressure is applied by directing force just above the pubic symphysis in an oblique direction.
The goal of this maneuver is to disimpact the anterior shoulder.
It is very important that pressure be applied obliquely to free the shoulder, because downward pressure will not change the biacromial diameter.
Wood cork maneuver involves
placing a hand behind either the anterior or posterior fetal shoulder and rotating the fetus 180 degrees to lead to descent and delivery of the shoulders.
Papillary cancer -
accounts for about 80% of thyroid cancers (the most common malignant thyroid cancer). Metastasis mainly through lymphathic system.
Its only symptom can be an enlarged lymph node nearby the trachea or lateral neck (this is the metastasis of occult papillary cancer).
Follicular cancer -
represents about 20% of thyroid cancers, grows slowly as a single tumor.
Unlike papillary carcinoma, it rarely spreads via the lymphatic pathway (much more frequently through the bloodstream to the lungs and bones).
Anaplastic cancer
- i.e. undifferentiated - accounts for about 5% of thyroid cancers and is usually present in elderly people (over 60 years of age).
It occurs on the basis of differentiated, papillary or follicular cancer, usually infiltrates surrounding tissues.
Medullary cancer
- it accounts for about 5% of thyroid cancers and may be genetically conditioned (tumors usually occur bilaterally, may co-occur with parathyroid adenoma and phaeochromocytoma of the adrenal medulla).
It is metastasized by both the lymphathic and blood pathways. It grows slowly, produces and secretes CEA and calcitonin.
The second most common thyroid cancer is:
Follicular cancer
Some facts about thyroid cancer:
6 pts
A characteristic symptom of medullary cancer is diarrhea .
Frequent in medullary cancer is family occurrence ( RET mutation ).
Rapid progression is characteristic of anaplastic cancer.
In anaplastic cancer, the characteristic symptom is dyspnea .
Differentiated cancers can be treated with radioactive iodine .
Thyroid cancer is 4 times more common in women .
general symptoms:
in the case of an advanced stage of the cancer, symptoms associated with infiltration of other organs or the presence of distant metastases may occur
fever
lack of appetite
weight loss
iron deficiency anemia
presence of blood in / on the stool
