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209 Pathophys > Module 2: Genetics and environment + integumentary system > Flashcards

Module 2: Genetics and environment + integumentary system Flashcards

1
Q

What are the nucleotide pairs?

A

Adenine - Thymine, Guanine - Cytosine

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2
Q

What are chromosomes?

A

Condensed DNA templates

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3
Q

What is DNA?

A

Individual coding molecules

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4
Q

What are genes?

A

Protein-specific DNA sequence code

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5
Q

What are the proteins used in DNA replication?

A
  • DNA helicase (template unzipping)
  • DNA polymerase (nucleotide addition and proofreading)
  • DNA ligase (seals off the new DNA)
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6
Q

List the DNA mutations by the severity of protein alteration

A

Missense mutation (specific mispairing)
Nonsense mutaiton (codes the stop codon)
Frameshift mutation (insertion or deletion of a pair)

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7
Q

What are the differences between diploid somatic cells and haploid gametes?

A

Diploid are body cells, n=46, go through mitosis
Haploid are sperm and egg cells, n=23 (individual chromosomes), go through meiosis

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8
Q

What is polyploidy and aneuploidy?

A

Ploy: multiple of 23 chromosomes
Aneu: not a multiple of 23 chromosomes (ex trisomy 21 has 47 chromosomes)

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9
Q

What are the characteristics of Turner syndrome?

A

X chromosome anomaly, n=45, 1% of fetuses survive, loss of paternal X chromosome
- Short stature
- Abnormal female genitalia
- Exogenous estrogen for secondary sexual development

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10
Q

What are the characteristics of Klinefelter syndrome?

A

X chromosome anomaly, n=47, extra X chromosome
- male appearance & sterile
- small testes and female breast development
- Increased physical and mental alterations

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11
Q

What are the 4 types of chromosome breakage?

A
  • Deletion (smaller chromosome, loss of information ex Cri du chat syndrome)
  • Duplication (duplication of a section of the chromosome ex Huntington’s disease)
  • Inversion (swapped info)
  • Reciprocal translocation (2 chromosomes that swap a part of each other ex Chronic Myeloid Leukemia)
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12
Q

What is a phenotype?

A

The expression of a trait (outward appearance of organism)
Genotype + environment

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13
Q

What are alleles?

A

Variants of genes (ex pair of alleles BB or Bb or bb)

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14
Q

What is a genotype?

A

Refers to the pair of alleles, the genetic constitution of a person

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15
Q

What is a polymorphism?

A

the presence of 2 or more variant forms of a specific DNA sequence that can occur among different individuals (ex CYP2D6)

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16
Q

What happens when a red and a white flower have incomplete dominance alleles?

A

pink flower! (heterozygotes)

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17
Q

What happens when a red and white flower have codominance?

A

Red and white flower!! (heterozygotes)

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18
Q

Give an example of incidence

A

New cases of breast cancer in Quebec is 20/100 000 in 2018
(# of new cases in a timeframe, within a population)

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19
Q

Give an example of prevalence

A

Number of smokers in Québec is 17% in 2018
(ratio of affected individuals at a specific time, based on existing and new cases added up)

20
Q

What is the difference between monozygotic and dizygotic twins?

A

Mono have 1 sperm and one egg, so they are genetic clones (identical twins)
Di have 2 sperms and 2 eggs (fraternal twins)

21
Q

What is epigenetics?

A

It modifies the expression pattern of some genes. It is influenced by environmental factors. Some epigenetic modifications can be transmitted to offspring

22
Q

What is the main constituent of skin, hair and nail cells?

A

Keratin

23
Q

What is continuous turnover of skin cells?

A

The time it takes for a cell to go from stratum basale all the way up and then shed

24
Q

What is found in the dermis?

A

Hair shaft, nerves, sweat and sebaceous glands, lymphatic and blood vessels, mast cells/macrophages/fibroblasts

25
Q

What is found in the hypodermis?

A

Adipose tissue and blood vessels. It connects the skin to muscles

26
Q

What causes male-pattern alopecia?

A

androgen-sensitive follicles

27
Q

What is alopecia areata?

A

A T-cell mediated autoimmune disease causing the chronic inflammation of hair follicles

28
Q

What could indicate hirsutism?

A

Endocrine disorders like polycystic ovaries, adrenal hyperplasia or tumours

29
Q

What is paronychia?

A

Infection of the cuticle
(abcess may develop, moisture increased risk of infection. caused by strepto or staph)

30
Q

What is onychomycosis?

A

Infection of the nail plate
(hyperkeratotic debris within the plate, shows yellow and elevated nail. caused by a fungal or dermatophyte infection)

31
Q

Explain the 4 degrees of frostbite

A

1st: superficial freezing of the epidermis
2nd: full thickness freezing (hypodermis and dermis)
3rd: deep and full-thickness + subcutaneous freezing (hypodermis, dermis and subcutaneous)
4th: Deep and full-thickness + subcutaneous freezing + gangrene (cells undergoing necrosis)

32
Q

What happens to hair with aging?

A

Lower count of melanocytes (responsible for pigmentation) and Langerhans cells (specialised macrophages) which lead to the loss of protection and hair color

33
Q

What happens to skin with aging?

A

Loss of elastin, collagen and fibroblast leads to the loss of elasticity and increases wrinkles

34
Q

What are the 4 stages of pressure injuries?

A

1: irritation of the skin
2: down to the soft tissues (fatty tissues, dermis)
3: reaches the muscles or other structures
4: bone is exposed

35
Q

What is the pathophysiology behind allergic contact dermatitis?

A

allergen contact on skin -> triggers immune cells -> T-cell activation + cytokines release -> inflammation

36
Q

What is the pathophysiology behind irritant contact dermatitis?

A

skin barrier compromised -> exposition to irritant -> inflammation in response to injury (injury is proportional to irritant concentration and exposure)

37
Q

What is the pathophysiology behind psoriasis?

A

Th17/IL-23 pathway hyperactivation -> extensive/constant skin inflammation -> keratinocyte hyperplasia + vasculature -> plaque formation

38
Q

What are the 4 risk factors for acne vulgaris?

A

Hyperkeratinization, increase of sebum production (from increased androgen/testosterone levels), increase proliferation of P. acnes bacteria, rupture of sebaceous follicle

39
Q

What is the pathophysiology behind acne vulgaris?

A

risk factor -> skin pore obstruction -> inflammation

40
Q

What is the pathophysiology behind acne rosacea?

A

chronic abnormal vasodilation -> erythema

41
Q

What are the common hallmarks of acne rosacea?

A

Photosensitivity, fibrosis and telangiectasia (flushing) and sebaceous hypertrophy

42
Q

What is the pathophysiology behind discoid lupus erythematosus?

A

UV light + altered immunity -> activation of self-reactive T&B cells -> formation of autoantibodies immune complexes (AIC) -> skin damage + vasculitis

43
Q

What is the pathophysiology behind herpes simplex?

A

virus infects epithelium cells -> latency in local dorsal root ganglion -> viral reactivation -> skin lesions

44
Q

What is the pathophysiology behind herpes zoster & varicella?

A

virus infects epithelium cells -> latency in local root ganglion -> viral reactivation -> skin lesions

45
Q

What is the pathophysiology behind Kaposi sarcoma?

A

immunosuppression -> latent HSV-8 opportunistic infection -> multilocal lesions & inflammation at blood vessels -> characteristics purple plaques & nodular lesions

46
Q

What is the pathophysiology behind Lyme disease?

A

tick bite -> bacterial invasion of tissues -> localized erythema migrans (T-cell mediated) -> systemic spreading -> secondary erythema migrans + complications

47
Q

What are the 3 stages of infections for Lyme disease?

A

1: localized erythema migrans (days after bite)
2: spreading of illness with neuralgias and neuritis/carditis (weeks)
3: late persistent can lead to encephalopathy and heart failure

209 Pathophys (4 decks)

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