Exam 4

Question 1

What is a karyotype

Answer 1

Image of individuals collected chromosomes.
23 pairs

Question 2

Gene

Answer 2

Unit of DNA that transmits genetic code

Question 3

Allele

Answer 3

Different forms of the gene in different people
How a gene is expressed

Question 4

Genotype

Answer 4

Set of alleles that are present
Genetic makeup

Question 5

Phenotype

Answer 5

Observable physical traits

Question 6

Single gene mutation

Answer 6

Traits is based off on which chromosome occurs

Question 7

Multifactorial gene disorder

Answer 7

Many different genes involved in a trait.

Question 8

Nondisjunction errors

Answer 8

Error in meiosis
Extra genetic material = trisomy
Missing genetic material = monosomy

Question 9

Klinefelters symptoms, genetic changes

Answer 9

Trisomy
Always male
Some female characteristics

Question 10

Turners syndrome, symptoms and genetic error

Answer 10

Monosomy
Always female, neck webbing

Question 11

Heterozygous

Answer 11

Different alleles

Question 12

Homozygous

Answer 12

Same alleles

Question 13

Autosomal dominant diseases

Answer 13

Polycystic kidney disease
Huntington’s disease
Marfan’s syndrome

Question 14

Autosomal recessive diseases

Answer 14

Cystic fibrosis
Sickle cell anemia
Tay-sachs disease
PKU

Question 15

X-linked Recessive disorders

Answer 15

Hemophila
Red green color blindness

Question 16

Teratogens

Answer 16

Cause fetal malformations
TORCH

Question 17

Negative feed back loop

Answer 17

Hormone levels increase to inhibit production of a gland

Question 18

Positive feedback

Answer 18

A product causes more of a product to be released until an event occurs

Question 19

Tertiary dysfunction

Answer 19

Hypothalamic origin
Hyperthyroidism, high trh, tsh and t3/t4

Question 20

Secondary disfunction

Answer 20

Pituitary gland

Question 21

Primary dysfunction

Answer 21

Gland itself

Question 22

Hypothalamic-pituitary-thyroid axis

Answer 22

Hypothalamus secretes TRH
Pituitary secretes TSH
Thyroid secretes T3 and T4

Question 23

Hypothalamic-pituitary-adrenal axis

Answer 23

Hypothalamus secretes CRH
Pituitary secretes ACTH
Adrenal gland secretes CORT

Question 24

Cushing’s syndrome

Answer 24

Cause= High cortisol (glucocorticoid therapy, pituitary adenoma<most common, adrenal gland tumor)

S/S: “Cushion”
Weight gain
Hyperglycemia, hypertension
Mood and insomnia
Osteoporosis

Question 25

Addison’s disease

Answer 25

Cause =. Low cortisol/aldosterone (autoimmune damage to adrenal cortex) S/S Bronze skin pigmentation (melanin production) Anorexia Hypoglycemia, hypotension

Question 26

Pheochromocytoma

Answer 26

Adrenal medulla tumor Causes enhanced fight or flight response

Question 27

Addisonian crisis

Answer 27

Cause: abruptly stoping hormone treatment S/S- dehydration, hypotension, hyperkalemia Hyponatremia, hypoglycemia, weakness, death

Question 28

Hormones from adrenal cortex

Answer 28

Aldosterone, cortisol, androgens

Question 29

Hormones produced by the adrenal medulla

Answer 29

Epi, norepi, dopamine

Question 30

Hypothyroidism

Answer 30

Hashimoto’s thyroiditis Slow down Autoimmune destruction of thyroid gland Primary dysfunction Myxedema coma- hypothyroidism that leads to coma

Question 31

Hyperthyroidism, Conditions

Answer 31

Speed up Grave’s disease- autoimmune disease causes overproduction of thyroid hormone t4 Thyrotoxic crisis- medical emergency, fever, tachycardia, N/V, agitation, psychosis, coma w/ hypotension

Question 32

Goiter

Answer 32

Enlarged thyroid caused by hypo- or hyper- thyroidism

Question 33

Parathyroid dysfunction and S/S

Answer 33

Hypothyroidism= hypocalcemia S/S Tingling fingers Chvosteks sign= facial twitch Trousseau’s sign = crapal spasm

Question 34

Dwarfism

Answer 34

Hyposecretion of growth hormone during childhood Proportional but small

Question 35

Gigantism

Answer 35

Hypersecretion of GH prior to plate fusion Hypogonadism, cardiat hypertrophy

Question 36

Acromegaly

Answer 36

Hypersecretion of GH after plate fusion Large jaw/hand/feet Osteoarthritis Cardiac dysfunction/hypertention Insulin resistance

Question 37

Diabetes insipidus and S/S

Answer 37

Lack of ADH = dry inside, excess urination Hypernatremia, thirst, AMS

Question 38

Sydrome of inappropriate ADH (SIADH)

Answer 38

Excess ADH= “Soaked inside”, urine retention Hypervolemia, hyponatremia, Low urine output= high urine osmolality, low serum osmolality

Question 39

Role of insulin

Answer 39

Regulate blood glucose Secreted by beta cells helps glucose and potassium enter cell, lowers BGL, prevents fat breakdown

Question 40

Diabetes mellitus type I

Answer 40

Insulin dependent= no insulin secretion Diabetic ketoacidosis Polydipsia/uria/phagia Visual distrurbances Fatigue, weakness, malasia, chronic candida/uti

Question 41

Diabetes mellitus type II, S/S, risk factors

Answer 41

Insulin resistance Adipose tissue releases chimcal that make cells resistant to insulin Polyuria/dipisia/phagia Dehydration, confusion stupor, coma Hyperosmolar hyperglycemic syndrome Risk factors: gestational diabetes, inactive lifestyle, age

Question 42

Diabetic ketoacidosis

Answer 42

Type I DM BS > 250mg/dl Acetone/fruity breath Ketones in urine Ph < 7.35=metabolic acidosis Kussmaul respirations N/V/abdominal pain

Question 43

Hyperosmolar hyperglycmemic syndrome

Answer 43

Type II DM BS >600 mg/dl No acidosis Dehydration Shallow breathing AMS -> LOC

Question 44

Gestational diabetes

Answer 44

Type II diabetes in mothers Increases risk of type II diabetes in future Risk of large infant

Question 45

Major diabetes complications

Answer 45

Eye: damge, cataracts and glaucoma Kidney: Hypertension causes damage to vessels Neuropathy: peripheral nerve damage Brain: Increased risk of stroke Heart: high blood pressure and coronary artery disease Extermities: vessels damage leads to wounds and slow healing.