Week 3

Question 1

normal ranges of adult systolic & diastolic blood pressures

Answer 1

• systolic: 90-120,
• diastolic: 60-80
• Normal BP = 120/80

Question 2

generation of nitric oxide from sodium nitroprusside

Answer 2

SNP is reduced by oxyhemoglobin to NO & 5 Cyanide molecules

Question 3

mechanism of nitric oxide donor-induced vasodilation

Answer 3

• NO diffuses into vascular smooth m., initiates G-protein cascade
• ↑cGMP, which activates phosphatases
• ↓ available calcium
• inactivates myosin
• relaxes smooth muscle

Question 4

Explain how cyanide toxicity may arise from prolonged sodium nitroprusside (SNP) administration.

Answer 4

· SNP is metabolized to thiocyanate in the liver & excreted by kidneys.
-Cyanide toxicity can result in presence of renal insufficiency or prolonged administration/rapid infusion causing buildup of CN/thiocyanate b/c body cannot handle keep up.

Question 5

functional importance of the X chromosome.

Answer 5

• determines sex

- many genes are expressed solely on x chromosome

Question 6

Lyons hypothesis

Answer 6

Early in development, 1 X chromosome is turned off to form Barr Body, only in females, ensuring equal expression of X-linked gene products—this is dosage compensation

Question 7

Non-disjunction

Answer 7

failure of homologous chromosomes or sister chromatids to separate during meiosis or mitosis

Question 8

Monosomy

Answer 8

All cells have only 1 X chromosome

Question 9

Mosaicism

Answer 9

No uniformity in cells—some cells have one X chromosome, others have 2

Question 10

Structural anomalies of X-chromosome

Answer 10

Missing or abnormal parts of X-chromosome present in all cells or just some (mosaicism)
Caused by deletions, translocations, etc.

Question 11

Types of Turner’s syndrome

Answer 11

• monosomy
• mosaicism
• structural anomalies of x-chromosome

Question 12

Why is Turner syndrome not an inherited chromosomal anomaly

Answer 12

anomaly is occurring as a result of a random event during the formation of reproductive cells

Question 13

clinical features of Turner syndrome

Answer 13

· Webbed neck, downward set eyes, short fourth metatarsal, broad flat chest with wide-spaced nipples, short stature, undeveloped ovaries & breast, lymphedema of hands & feet, low posterior hairline, constricted aorta

Question 14

pathophysiology linking Turner syndrome to Neurosensory otitis

Answer 14

Low set ears causes ↑ risk for middle ear infections, gradual loss of nerve function

Question 15

pathophysiology linking Turner syndrome to Cardiac abnormality

Answer 15

Coarctation of aorta causing ↑ risk of aortic dissection, heart murmur

Question 16

pathophysiology linking Turner syndrome to Renal abnormality

Answer 16

↑ risk of high blood pressure & UTI’s

Question 17

pathophysiology linking Turner syndrome to Skeletal abnormalities

Answer 17

Problems with growth & development, ↑ risk of scoliosis, kyphosis, & osteoporosis

Question 18

pathophysiology linking Turner syndrome to Endocrine abnormalities/infertility

Answer 18

↑ risk for Type II Diabetes, hypothyroidism, obesity, amenorrhea

Question 19

karyotyping

Answer 19

• maps out patients chromosomes
• Components include: total number of chromosomes, specific sex chromosomes, any specific numerical abnormality, any specific structural abnormality

Question 20

role of karyotyping in Turners

Answer 20

Shows partial or complete absence of 1 X chromosome, resulting in diagnosis of Turner Syndrome

Question 21

management options available for Turner syndrome

Answer 21

· Goal 1: Promote growth & development
o Somatropin (growth hormone)
o Estrogen replacement therapy
· Goal 2: Manage congenital abnormalities
o Cardiac, renal, ENT follow-ups
Goal 3: Monitor for disease manifestations associated with syndrome