Typres of Genetic Disorders, Inheritance Patterns, Cancer & Basic Diagnostic Procedures

Question 1

Congenital Disorders

Answer 1

disorders present at birth; may be genetic or occur due to environmental factors affecting embryonic or fetal development

Question 2

Genetic Disorders

Answer 2

inherited through the DNA; may or may not be evident at birth

Question 3

Developmental Disorders

Answer 3

disorders that occur during development of the embryo and fetus (not passed to offspring)

Question 4

Single gene disorder

Answer 4

caused by a defect in one gene; signs may not be present a birth, may be inherited in a dominant or recessive fashion

Question 5

Chromosomal defect

Answer 5

an error in the chromosome, where genes may be displaced or lost, altering the genetic information; frequently happens during mitosis, may be too many or not enough chromosomes

Question 6

Multifactorial disorders

Answer 6

involve several genes, and possibly also environmental factors; Family tendencies

Question 7

Risk factors of Cancer

Answer 7

• genetic
• viruses (cervical cancer from HPV)
• radiation
• chemicals (carcinogens)
• chronic irritation and inflammation (colon cancer)
• age
• diet (colon cancer from high fiber diet)
• hormones (endometrial cancer: estrogen)

Question 8

Screening for Cancer

Answer 8

• Breast Cancer: Annual mammography for women over 40, annual breast exam
• Colon and rectum: colonoscopy, sigmoidoscopy
• Uterus: Cervix, all women who are sexually active or who are 18 and older should have an annual Pap test and pelvic exam;
• Endometrium:All women should be informed about the risks and symptoms of endometrial cancer

Question 9

Diagnosis of Cancer

Answer 9

• Screening recommendations
• Tumor markers
• Scans (MRI)
• Endoscopy
• Ultrasound
• Biopsy-is the ultimate diagnostic for cancer

Question 10

Treatment of Cancer

Answer 10

• Prevention
• Screening
• Chemotherapy
• Radiation therapy
• Surgery

Question 11

Staging of Cancer

Answer 11

• Determining how much cancer is in the body and where it is located(critical in determining treatment options,gives an idea of prognosis)
• Three main factors:Size of primary tumor,Whether it has spread to nearby lymph nodes,Whether it has metastasized
• Stages: I, II, III, IV

Question 12

Grading of Cancer

Answer 12

• T:the extent of primary tumor
• N:absence or presence of lymph node involvement
• M:the presence of distance metastasis

Question 13

ECG

Answer 13

recording of the electrical activity of the heart

Question 14

EEG

Answer 14

a painless procedure that uses small, , flat metal discs (electrodes) attached to your scalp to detect electrical activity in your brain

Question 15

Urinalysis

Answer 15

• Creatinine:0.6 – 1.2 mg/dL; muscle breakdown protein; filtered, but not reabsorbed, so blood and urine levels can be used to estimate GFR
• BUN:10-20 mg/dL; Increases related to increased protein intake, kidney damage, low fluid intake; decreases related to poor diet, malabsorption, low nitrogen intake
• GFR: measure of kidney function; use creatinine, also varies based on age, weight, ethnic background

Question 16

Echocardiography

Answer 16

use of ultrasound to assess cardiovascular anatomy

Question 17

MRI (magnetic resonance imaging)

Answer 17

radiology technique that uses magnetism, radio waves, and a computer to produce images of body structures. The MRI scanner is a tube surrounded by a giant circular magnet

Question 18

Blood Tests -CBC -Hematocrit -Hemoglobin -Mean corpuscular volume (MCV)

Answer 18

• _CBC:_includes total RBCs, WBCs, and platelets
• Hematocrit:percent by volume of cellular elements in blood
• Hemoglobin:amount of hemoglobin per unit volume of blood
• Mean corpuscular volume (MCV):indicates the oxygen-carrying capacity of blood

Question 19

Lumbar Puncture

Answer 19

also known as spinal tap. (B) Section of the vertebral column showing the spinal cord and membranes. A lumbar puncture needle is shown at L3–4 and in the sacral hiatus.