Patho 101

Question 1

What’s polyploidy?

Answer 1

Multiplication of chromosomes set when haploid set greater than diploid, which is rare in human being due to spontaneous abortion in human being.

Question 2

Aneuploidy

Answer 2

Is a group of genomic mutations with changed chromosomes number, this is caused by non disjunction or anaphase lag.

Question 3

Aneuploidy diseases with autosome number?

Answer 3

Down syndrome
Trisomy 18
Trisomy 13

Question 4

Aneuploidy with sex chromosomes diseases

Answer 4

Turner syndrome 44, XO
Triple X (44, XXX)
Klinefelter (44, XXY)
44 XYY

Question 5

Explain Down syndrome

Answer 5

Translocation of chromosomal 21 translocated into 14.
85% survival into 50s
Mortality: congenital heart failure, respiratory infection, increased risk of leukaemia leading to Alzheimer’s disease.

Morphological: branchcephaly, short neck, single palmer crease, clindodactyly. Older children are passionate and music lovers.

Question 6

Trisomy 18 or Edward syndrome

Answer 6

Growth deficiency
Clenched hands with overlapping digits, rocker bottom feet, cardiac defects, renal abnormalities, radial defects, exomplalos, myelomeningocele, oesophageal atresia.

Question 7

Patau syndrome

Answer 7

Structural abnormality of the brain.
Holoproencephaly&microcephaly, facial and eye abnormality, exomphalos, scalp defects, congenital heart failure, cleft lip and palate, renal abnormality. Survivals have severe mental and physical disabilities associated with epilepsy, blindness and deafness.

Question 8

Vasoconstrictors

Answer 8

Norepinephrine, endothelin-1, thombaxane A2, Epinephrine, Angiotensin ll, decreased local temperature, Autoregulation, neuripeptide Y.

Question 9

Vasodilators

Answer 9

NO, Kinins, prostacyclin, Epinephrine, Histamine, increased local temperature , increased CO2 and decreased O2.

Question 10

Micro circulation during arterial hyperemia

Answer 10

Arterial hyperemia dilation - precapillar sphincter relaxation - increase in volumes and linear blood flow- increase of functioning capillaries number.

Question 11

Reactive oxygen species

Answer 11

Singlets oxygen, superoxide anion, hydrogen peroxide, hydroxyl radicals, hypochlorite acid

Question 12

Ros producers and ros destroyers

Answer 12

Producers

Mitochondria respiratory chain
NADPH OXIDASE
SUPEROXIDE DISmutase
Cytochrome p450
Cyclooxygenase
Lipoxygenase
Xantine oxidase

Destroyers

Superoxide dismutase family
Catalase
Selenoproteins
Peroxiredoxins
Nitric oxide
Uncoupling protein
Glutathione system

Question 13

What’s Radical Chain

Answer 13

A radical reaction mechanism in which one or more steps are repeated many times until the chain is terminated or depleted.

Question 14

What’s modified ROS

Answer 14

Specific cysteine residues which were discovered in redox sensitive proteins.

Question 15

Purine and pyrindine

Answer 15

Purine
Adenine and guanine

Pyrimidine
Cytosine, thymine, uracil.

Question 16

What’s chromatin

Answer 16

It’s a mixture of DNA and proteins that form the chromosome found in cells of human beings

Question 17

Necrosis factors

Answer 17

Atp depletion
Increase in membrane permeability
Ca2 accumulation
Lysosome rupture
DNA damage
Damage associated molecular patterns