M8 Flashcards

Question

**8.6 genetic diseases: cau + eff** what are the possible treatments for CF? (4)

Answer 1

- inhalers - chest physiotherapy -> help patient cough up mucus - replacement of pancreatic enzymes (bc they break down the pancreas): blocking the pancreas’ production of enzymes but giving someone tablets orally so they still get the enzyme - lung transplant

Answer 2

unprotected exposure to 🌞 (look at this innocent little guy, so innocent but can be deadly!) OR artificial tanning beds - must also mention how sun's strong rays cause pyrimidine dimers (eg Thymine bases rotate out) -> disrupt cell reading DNA -> mutation

Answer 3

- formation of MALIGNANT MELANOCYTES in the skin - potential METASTASIS to other organs and lymph nodes - TUMOUR growth and INVASION of surrounding tissues - PAIN, BLEEDING, SKIN ULCERATIONNN

Answer 4

- overeating + poor dietary choices 🍰 - sedentary lifestyle 🪑 - lack of access to nutritious food 🥪 - genetics 🧬

Answer 5

- ^ risk of cardiovasular disease, ^ risk of type 2 diabetes, ^ risk of certain cancers - reduced fertility, reproductive problems

Answer 6

- surgical excision of localised melanoma - chemotherapy (though not as effective for melanoma) - radiation - targeted therapies - immunotherapy

Answer 7

- When cells are exposed to X-rays, normal cells can repair their DNA more easily than cancer cells can - X-rays damage the DNA of the cancer cells and kill them

Answer 8

**by interrupting the pathways that cause the uncontrolled division of melanoma cells** - Using drugs that affect the molecules that control the growth of tumour cells → effectively stops the growth and spread of tumour to other organs

Answer 9

- currently only 2 immunotherapy drugs avail for use (not effective on all patients) -> further research required - use of vaccines to treat melanoma is in early stages -> further research to refine this process and make it more consistently effective

Answer 10

1. sensorineural - damage to **inner ear** and/or its associated nerves 2. conductive - damage to **middle or outer ear**

Answer 11

a) for people who are profoundly deaf, who have **sensorineural hearing loss** b) outer part contains microphone, inner part includes an electrode that feeds into cochlear + *directly stimulates the cochlear nerve - bypassing outer, middle and innear ear*

Answer 12

People who have cochlear implants don’t hear the exact same thing as people who have normal healthy ears, but they’re able to interpret these vibrations and understand speech after some time!

Answer 13

a) ppl with conductive or unilateral (one ear) hearing loss - their cochlea still works fine b) microphone detects sound -> create vibrations 💤💤💤💤💤💤 that move along the SKULL, transmit vibrations through bone to inner ear, bypassing DEFECTIVE outer and middle ear

Answer 14

a) assumes that the person who uses this still has all the natural functioning of the ear, ie outer/middle/innear ear still working b) MAGNIFY SOUND VIBRATIONS (ie make sound louder) better transm. to middle and inner ear - **mic** converts sound -> digital signal - **amplifier** ^ strength of dig sig - **speaker** produces ampl sound into ear

Answer 15

MUST have labelled all the highlighted parts

Answer 16

characterised by opacity (translucency, cloudiness) of the lens

Answer 17

glaucoma = build up of pressure in eye (due to blocked drainage canal) -> damages optic nerve + the blood vessels which carry blood to the retina

Answer 18

RD: when retina begins to separate from sclera which contains the blood vessels that provide necessary oxygen and nutrients (first sign of retinal detachment when ‘floaters’ present, sudden flashes of light/shadow in vision) MD: when retina begins to degrade → loss of sharpness in vision

Answer 19

convex for hyperopia concave for myopia

Answer 20

ie laser vision correction 1. A small circular flap is created in the cornea using a precise metal blade 2. The flap is then folded back to reveal a layer of the cornea called the stroma 3. A laser is then used to vaporise material in the corneal stroma (to reshape the cornea) to correct for the refractive error in the eye 4. The flap is replaced, eye heals

Answer 21

- filtering done by nephrons, occurs in junction btwn glomerulus and Bowman's capsule - blood pressure in G is so high -> substances small enough move from bloodstream to tubules (except blood cells) - reabsorption of all substances required by the body occurs along the tubules and in the collecting duct - secretion of additional wastes into the tubules occurs along the length of the nephron

Answer 22

compare ppl with the disease (cases) to ppl w/o the disease (control) to look for diff in exp to the possible causes of the disease eg RICHARD DOLL 1947 compared patients with lung cancer to patients with other conditions (smoking one factor, he was first to suggest link btwn 🚬 and lung cancer)

Answer 23

studying 2 or more similar groups of people free of the disease - these groups differ in one main factor: their exposure to the potential cause of the disease eg A.B. Hill 1951 ENG studied >40,000 👩🏻‍⚕️s, one grp smokes, other grp non-smokers

Answer 24

- LONG TIME PERIOD - LARGE SAMPLE SIZE - COLLECT A RANGE OF RELEV DATA (in case other factor influencing study's results) - SCIENTIFICALLY VALID TECHNIQUES (reducing bias, objective measurement methods)

Answer 25

large sample sizes

Answer 26

- OVERARCHING: potentially saves lives - helps determine likely cause of disease / whether some groups more at risk to develop - helps develop strategies to best control disease - helps eval the effectiveness of strategies in place to treat/control disease (eg pub health campaigns, inform public policy + law making)

Answer 27

should have asbestos to mesothelioma should also have BRCA1 and BRCA2 link to breast cancer

Answer 28

✔ 13 years, 1728 indvls ✔ cohort study: differed by lvl of phys activity ✔ diabetes diagnosis objective means -> glucose test ✔ trained interviewers + scientifically valid questionnaire → reduced both interviewer and measurement bias ✔ data excluded from analysis if individuals were thought to have incorrectly reported activity levels → reduced recall bias ✔ peer reviewed before publication

Answer 29

- able to reach many diff groups in a pop - persuasive and remembered

Answer 30

- Uncertain whether decreases in a particular disease are attributed to the campaign only, as other factors would have influenced this reduction - Public health campaigns are often not enough by themselves to stop people from engaging with harmful causes of disease; legislation needed

Answer 31

1. gene therapy 2. production of pharmaceuticals and vaccines 3. genetic/embryo screening (testing) 4. prevent nutritional diseases (eg via Golden 🌾)

Answer 32

Replacing damaged genes with normal genes within cells - eg PKU - introduce the dominant allele for the PAH gene into the liver cells, the liver would then function normally and produce phenylalanine hydroxylase and thus could produce tyrosine (still in early stages)

Answer 33

Genetic engineering techniques are used to produce vaccines such as **Cervarix** which are effective in preventing infection by **HPV** which could lead to cancers nearly 100% effective

Answer 34

GENETIC TESTING for individuals Helps to **identify one or more gene mutations** (+ combinations of these) in people with the disease to predict predisposition or susceptibility to disease, essential for disease prevention

Answer 35

amino acid

Answer 36

Phenylalanine hydroxylase

Answer 37

1. RECOGNISE that it's a COCHLEAR IMPLANT 2. The answer is (d)

Answer 38

less of 🍃 SA is exposed directly to atmosphere - curled leaves = water transpired remains close contact with 🍃 - -> high conc of water adjac to 🍃 surface -> moves across conc gradient of water back into 🌳 (plant)

Answer 39

reduce the evaporation of water from the plant therefore water loss is minimised wec: waterproof, reflect heat (a major cause of water loss through evapor) ss: impede air flow across the stomatal pore and reduce transpiration WATER ALWAYS MOVES DOWN A CONCENTRATION GRADIENT, THEREFORE IF THERE IS MOIST AIR AROUND LEAF, LESS WATER WILL BE TRANSPIRED. IF AIR IS DRY AROUND LEAF, THEN WATER WILL TRANSPIRE FAST.

Answer 40

trap water in immediate vicinity (keeps air around plant humid) creates a barrier to evaporation -> allows plant's stomates to remain open for longer as little water is lost

Answer 41

PKU! - caused by mutation of the gene on chromosome 12 that codes for phenylaline hydroxylase (PAH) - could result in a small head and delayed mental development (if left untreated)

Answer 42

asbestosis and mesothelioma 😢 - inhaling asbestos fibres cause an inflammatory reaction in the lung tissue -> scarring/stiffening tissue -> breathing becomes hard, reduces amount of oxygen taken up by blood - effect - persistent cough, chest pain, enlarged fingertips

Answer 43

either the eyeball is too short or the lens is not able to refract light sufficiently -> focal point behind retina -> image blurred/not sharp

Answer 44

the eyeball is too long -> light focuses in front of retina -> image blurred/not sharp

Answer 45

when a wave moves from fluid-filled canals of cochlea from oval window, it pushes up on the basilar membrane * this causes bending of hair cells against tectorial membrane -> stimulus that **transforms kinetic energy of wave into electrical energy of nerve impulse** sent along auditory nerve to brain

Answer 46

convert vibrations in the fluid of the cochlea into electrochemical signals

Answer 47

leaves have been reduced to tiny spines, which reduces the SA over which water can be lost by transpiration succulents have a habit of storing water

Answer 48

- Gene therapy (replacing mutant genes) eg CF - IVF preimplantation screening (ask yourself hmmm what is this?) - SNPs genetic markers for heritable diseases eg 170 common genetic variants PrCA, 35 genes linked to Parkinson's disease

Answer 49

link receptors and effectors to the central nervous system

Answer 50

delivered to the lungs via a nasal spray containing recombinant viruses or liposomes

Answer 51

1. **Microphone** detects and amplifies sound waves 2. Sent to **speech processor** (converts sound waves → electrical signals) 3. Electrical signals sent to a **transmitter** (outside of ear) 4. Transmitter sends radio waves to **implanted receiver** 5. Which picks up radio waves, turns them into electrical signals 6. Electrical signals go to the **electrodes** (which excites the auditory nerve)

Answer 52

- a clear IV and DV - at least 2 steps to ensure validity (eg controlled variable, a control group, set parameters)

Answer 53

Potential bias that may occur - for eg if researchers have a preconceived idea about what is causing a particular disease, it may affect the groups within society that they choose to participate in the study. This could lead to relevant factors being missed because a particular group of people was not included in the study.

Answer 54

**Rods and cones** in the **retina** translate the light into an ELECTRICAL SIGNAL that travels from the optic nerve to the brain cones: colour vision

M8 Flashcards

(86 cards)