normal ranges of adult systolic & diastolic blood pressures
- systolic: 90-120,
- diastolic: 60-80
- Normal BP = 120/80
generation of nitric oxide from sodium nitroprusside
SNP is reduced by oxyhemoglobin to NO & 5 Cyanide molecules
mechanism of nitric oxide donor-induced vasodilation
- NO diffuses into vascular smooth m., initiates G-protein cascade
- ↑cGMP, which activates phosphatases
- ↓ available calcium
- inactivates myosin
- relaxes smooth muscle
Explain how cyanide toxicity may arise from prolonged sodium nitroprusside (SNP) administration.
· 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.
functional importance of the X chromosome.
- determines sex
- many genes are expressed solely on x chromosome
Lyons hypothesis
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
Non-disjunction
failure of homologous chromosomes or sister chromatids to separate during meiosis or mitosis
Monosomy
All cells have only 1 X chromosome
Mosaicism
No uniformity in cells—some cells have one X chromosome, others have 2
Structural anomalies of X-chromosome
Missing or abnormal parts of X-chromosome present in all cells or just some (mosaicism)
Caused by deletions, translocations, etc.
Types of Turner’s syndrome
- monosomy
- mosaicism
- structural anomalies of x-chromosome
Why is Turner syndrome not an inherited chromosomal anomaly
anomaly is occurring as a result of a random event during the formation of reproductive cells
clinical features of Turner syndrome
· 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
pathophysiology linking Turner syndrome to Neurosensory otitis
Low set ears causes ↑ risk for middle ear infections, gradual loss of nerve function
pathophysiology linking Turner syndrome to Cardiac abnormality
Coarctation of aorta causing ↑ risk of aortic dissection, heart murmur
pathophysiology linking Turner syndrome to Renal abnormality
↑ risk of high blood pressure & UTI’s
pathophysiology linking Turner syndrome to Skeletal abnormalities
Problems with growth & development, ↑ risk of scoliosis, kyphosis, & osteoporosis
pathophysiology linking Turner syndrome to Endocrine abnormalities/infertility
↑ risk for Type II Diabetes, hypothyroidism, obesity, amenorrhea
karyotyping
- maps out patients chromosomes
- Components include: total number of chromosomes, specific sex chromosomes, any specific numerical abnormality, any specific structural abnormality
role of karyotyping in Turners
Shows partial or complete absence of 1 X chromosome, resulting in diagnosis of Turner Syndrome
management options available for Turner syndrome
· 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
