selected diseases from module 1-6

Question 1

SLE

Answer 1

Module 4 - example of Type III hypersensitivity
Systemic Lupus Erythematosus
Targets DNA, Type III Hypersensitivity Reaction (circulating DNA-AntiDNA complexes)
Predominantly female (90% women b/w 12-40)
Dermatitis, nephritis, arthritis: due to trapping in skin, kidneys and joint synovium

Question 2

Hashimoto’s thyroiditis

Answer 2

Module 4 - example of Type II and Type IV hypersensitivity reaction
Targets thyroid follicular cells, Type II (cytotoxic antibody; complement activation) and Type IV (cell-mediated)
Hypothyroidism d/t destruction of thyroid cells

Question 3

Goodpasture syndrome

Answer 3

Module 4 example of Type II Hypersensitivity

Antibody to type IV collagen leads to damage of lung and kidney basement membrane

Question 4

myasthenia gravis

Answer 4

Module 4 example of Type II Hypersensitivity

formation of Ab to block ACh receptors

Question 5

Graves disease

Answer 5

Module 4 example of Type II Hypersensitivity
Ab to TSH receptor that stimulates thyroid function
Hyperthyroidism

Question 6

Serum sickness

Answer 6

Module 4 example of Type III Hypersensitivity
caused by injection of foreign protein
characterized by fever, joint pain, vasculitis, acute goerulonephritis

Question 7

rheumatoid arthritis

Answer 7

Module 4 example of Type III Hypersensitivity

Question 8

list some examples of Type IV hypersensitivity

Answer 8

poison ivy, chronic active hepatitis, TB, organ rejection

Question 9

what are some examples of cancer causing viruses?

Answer 9

HPV -type 16, 18, 31 assoc. with squamous cell carcinoma
Epstien Barr Virus (EBV) - Burkitts lymphoma, nasopharyngeal carcinoma
Hep B - hepatocellular carcinoma

Question 10

describe the specific example of paraneoplastic syndrome

Answer 10

Bronchogenic carcinoma

causes:
- Cushing’s syndrome
- Syndrome of inapprop. ADH secretion
- Hypercalcemia (too much calcium in blood)
- Myesthesia (awareness of muscle contraction)
- ancanthosis nigricans
- hypertrophic osteoarthropathy (clubbing of the fingers and toes, painful swollen joints)
- venous thrombosis

WHY? symptom complex in cancer pt.s that can’t be explained. Systemic effects that basically happen because a person has cancer but they can’t be explained.

Question 11

Down Syndrome

Answer 11

extra 21st chromosome (Trisomy 21)
example of chromosomal disorder
abnormal faces, palmar creases, congenital heart disease, duodenal stenosis or atresia, mental retardation

Question 12

Turner Syndrome

Answer 12

1 sex chromosome (X0)

fail to develop normal secondary sex characteristics, are infertile and have skeletal abnormalities

Question 13

Kleinfelter Syndrome

Answer 13

extra sex chromosome (XXY)

fail to develop normal secondary sex characteristics, are infertile and have skeletal abnormalities

Question 14

Cri-du-chat Syndrome

Answer 14

examples of structural abnormality of chromosome, deletion
partial deletion of short arm chromosome 5
cat-like cry, small head, facial abnormalities

Question 15

Prader-Willi Syndrome

Answer 15

examples of structural abnormality of chromosome, microdeletion
small deletion of chromosome 15
short stature, obesity, small hands/feet, small penis, cryptorchidism (absence of one or more testes), mental retardation

Question 16

Balanced translocations

Answer 16

1/500 freq
if one of the couple carries a balanced translocation, they have an increased risk to have miscarriages and abnormal children with structural abnormalities

Question 17

Marfan Syndrome

Answer 17

Single Gene Disorder, autosomal dominant
disorder of connective tissue assoc with widespread effects in skeleton, eye and cardiovascular system
long limbs, dislocation of lens of eye and abnormal dilatation of aorta. gene is on chromosome 15

Question 18

Familial Hypercholesterolemia

Answer 18

Single Gene Disorder, autosomal dominant
mutation in gene encoding the LDL receptor resulting in elevated cholesterol level in plasma and deposition of cholesterol in arteries
Can lead to coronary heart disease
Gene on chromosome 19

Question 19

Cystic Fibrosis

Answer 19

Single Gene Disorder, autosomal recessive
respiratory tree mucous abnormal causing repeted lung infection with destruction of lung tissue
also have pancreatic insufficiency resulting in intestinal malabsorption
the gene is on chromosome 7

Question 20

Phenylketonuria (PKU)

Answer 20

Single Gene Disorder, autosomal recessive
metabolic disease - mutation in phenylalanine hydroxylase - enzyme that converts phenylalanine to tyrosine
Accumulation of phenylalanine in body fluid damages developing brain in early childhood and causes severe mental retardation

Question 21

Hemophilia A

Answer 21

Single Gene Disorder, x-linked recessive
absent blood clotting factor with prolonged bleeding time and bleeding into joints and muscles
gene on sex chromosome X

Question 22

what are some examples of multifactorial and polygenic disorders?

Answer 22

are heritable but don’t fit a pattern

cleft palate, congenital heart disease, spina bifida, hypertension, diabetes mellitus

Question 23

Bruton’s syndrome

Answer 23

primary (congenital and/or genetic) immunodeficiency disease
a.k.a. x-linked agammaglubulinemia
failure of pre-B cells to differentiate into B cells leaving body absent of antibodies

Question 24

DiGeorge syndrome

Answer 24

primary (congenital and/or genetic) immunodeficiency disease
congenital absence of thymus and parathyroid glands development with deficient T cell maturation
vulnerable to viral, fungal & protozoal infections and to intracellular bacterial infections
also affects helper/suppressor effect on B cells

Question 25

Severe Combined Immunodeficiency (SCID)

Answer 25

primary (congenital and/or genetic) immunodeficiency disease

lacking both B and T cells

Question 26

what are some secondary immunodeficiency diseases?

Answer 26

secondary means acquired
infections - measles, rubella, mycoplasma (all result in temporary immunodeficiency)
HIV - infects CD4 T cells which has consequences for both humoral and cell-mediated immunity
chemotherapy, irradiation, cancer, chronic illness, malnutrition, aging