Diseases and Human Conditions Flashcards

Mandatory to know for IB

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1
Q
  • photoreceptors on retinal cells do not work/degenerate - can be cured with stem cells
A

Stargardt’s disease

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2
Q
  • stem cells can treat this type of blood cancer
A

Leukemia

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3
Q
  • base substitution GAG to GTG, amino acid valine instead of glutamic acid
  • recessive, carriers protected against malaria
  • red blood cells change shape and clog arteries (hemoglobin clumps at low O2 levels)
A

Sickle Cell Anemia

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4
Q
  • most common genetic disease in Europe
  • recessive, autosomal allele on chromosome 7
  • chloride channels don’t work properly, thick mucus builds up
A

Cystic Fibrosis

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5
Q
  • dominant autosomal allele on chromosome 4
  • causes degenerative changes in the brain
A

Huntington’s Disease

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6
Q
  • sex linked, affected gene is on the X chromosome
  • cannot clot blood as protein factor VII is not made
A

Hemophilia

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7
Q
  • sex linked, gene is on the X chromosome
  • cannot see difference between red and green
  • one photoreceptor protein of the cone cells in the retina is defective
A

Red-Green Colourblindness

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8
Q
  • coronary arteries partially blocked by fatty deposits, can break off and form clots
  • trans fats, saturated fats, and low fiber intake can increase risk
A

Coronary Heart Disease (CHD)

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9
Q
  • beta islets do not produce insulin, blood sugar remains high after eating
  • usually appears in children
  • treated with insulin (can be from genetically modified bacteria as DNA code is universal)
A

Diabetes Type 1

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10
Q
  • receptors do not respond to insulin
  • caused by being overweight, sugary diet, genetics
  • appears typically in adults
  • treated with diet, weight loss, pills (sometimes insulin)
A

Diabetes Type 2

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11
Q
  • leptin is produced by adipose (fat) tissue, acts on hypothalamus to reduce appetite
A

OVERWEIGHT: due to Lack of Leptin Receptors or No Reaction to Leptin

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12
Q
  • mutations in oncogenes (genes that have potential to cause cancer) caused by mutagens
  • problems with mitosis
  • high mitotic index
A

Cancer:
- thyroid cancer and radiation from Hiroshima and Chernobyl
- lung cancer and smoking, air pollution, low survival rate

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13
Q
  • immobilized lactase to make lactose free products (enzyme immobilized so not wasted)
A

Lactose Intollerance

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14
Q
  • lactate builds up after anaerobic cell respiration in muscles
  • lactate broken down by oxygen after exercise
A

Oxygen Debt

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15
Q
  • three of chromosome 21
  • caused by nondisjunction during meiosis (homologous chromosomes in meiosis 1 or sister chromatids in meiosis 2)
  • seen in karyogram after amniocentesis or chorionic villus sampling
  • older parents = higher risk
A

Trisomy 21 (Down Syndrome)

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16
Q
  • fatty tissues in artery wall develops into an atheroma
  • caused by LDL containing fats and cholesterol
  • become large and block artery, cause high blood pressure, angina (pain), low oxygen levels
  • can rupture and cause formation of a clot
  • risk caused by high LDL, obesity, diabetes, smoking, stress, trans fats, some microbes
A

Atherosclerosis

17
Q
  • formation of blood clots in coronary arteries that bring blood to heart
  • caused by high LDL, obesity, diabetes, smoking, stress, trans fats, some microbes (like Atherosclerosis)
A

Coronary Thrombosis

18
Q
  • retrovirus (RNA virus that uses reverse transcriptase to make DNA copies of genes in host cell)
  • affects lymphocytes (Helper T lymphocytes), specific antibodies not produced
  • caused by body fluids (sex, needles, blood transfusion)
A

HIV

19
Q
  • larger alveoli (less surface area for gas exchange) with thicker walls (harder for gases to diffuse)
  • less elastic lungs
  • caused by smoking, genetics
  • laboured breathing, need oxygen supplements
  • chronic = irreversible
A

Emphysema

20
Q
  • lack of neurotransmitter dopamine
  • slow movements, rigidity, shaking
A

Parkinsons

20
Q
  • pesticides block receptors of cholinergic synapses to acetylcholine
  • insects become disorientated and cannot find way to food or home
A

Neonicotinoid Poisoning

21
Q
  • circadian rhythm disrupted
  • melatonin secretion from pineal gland disrupted
  • melatonin works on hypothalamus and kidneys
A

Jet Lag

22
Q
  • iodine deficiency or hyper/hypo thyroidism affects thyroxine production in thyroid (acts on all cells to control metabolism)
A

Metabolic Disorders

23
Q
  • caused by testosterone, estrogen and progesterone
A

Puberty

24
Q
  • fall in progesterone
A

Menstruation

25
Q
  • large rise in LH
  • small rise in FSH
A

Ovulation

26
Q
  • rise in FSH
A

Meiosis in an Egg

27
Q
  • fall in progesterone
  • rise in oxytocin
A

Birth

28
Q
  • estrogen
A

Repair of Uterine Lining AFTER Menstruation

29
Q
  • drugs stop normal female cycle (stop LH and FSH production)
  • high levels of LH and FSH injected to promote SUPEROVULATION
  • HCG injection to loosen follicles
  • follicles washed out of ovary, mixed with sperm, incubated until zygote forms, cleavage of embryo
  • embryo implanted in uterus
  • progesterone given as tablet in vagina
A

In Vitro Fertilization (IVF) if Infertile

30
Q
  • called by single cell organism Plasmodium falciparum (lives in blood)
A

Malaria

31
Q
  • caused by polygenic inheritance (more than one gene affects trait)
  • at least three genes code for amount of melanin cells produce
A

Skin Colour and Hair Colour as examples

32
Q
  • hemodialysis or kidney transplant
A

Kidney Failure and Treatment

33
Q
  • overconsumption of water
  • blood solutes diluted
  • cells swell due to osmosis
  • headache, nerve function reduced
A

Overhydration

34
Q
  • low intake of water
  • too much sweating, dark urine, low blood pressure, increase in body temp
A

Dehydration

35
Q
  • caused by excess production of histamines by mast cells
  • swelling of area, extra mucous, redness
  • anti-histamine medicine as treatment
A

Allergies

36
Q
  • pathogens that cross species barrier
  • can affect other animals and humans
  • e.g. bubonic plague, Lyme disease
A

Zoonosis

37
Q
  • first disease eradicated by vaccination
  • long lasting immunity, no long incubation time
A

Smallpox

38
Q
  • methyl groups added to DNA, methylation, acetylation, or phosphorylation of histone proteins
  • increase/decrease which genes are transcribed in next generation
A

Epigenetics May affect Phenotypes