MODULE 8 IQ 2: Causes & Effects

Question 1

non-infectious diseases definition

Answer 1

can be life threatening and very harmful. not caused by a pathogen and cannot be transmitted to another individual

Question 2

downs syndrome (trisomy 21) cause

Answer 2

chromosomal mutation leading to extra copy of chromosome 21/aneuploidy
- 95% due to meiotic nondisjunction
- 4% due to Robsertsonian translation
- 1% due to Mosaicism due to meiotic nondisjunction

Question 3

downs syndrome (trisomy 21) effects

Answer 3

valve disease, hypothyroidism, obesity, early onset dementia, seizures, developmental delay

Question 4

downs syndrome (trisomy 21) diagnosis and treatment

Answer 4

• ultrasound
• genetic counseling and genetic screening post birth
• therapy (physical, occupational, behavioural and speech)

Question 5

cystic fibrosis cause

Answer 5

frameshift mutation caused by a CFTR gene defect on the long arm of chromosome 7.
- autosomal recessive

Question 6

cystic fibrosis effects

Answer 6

• thick secretions block up the pancreatic ducts preventing digestive enzymes making it to the small intestine
• cilia in the respiratory malfunctions –> prevents bacteria from being excreted from the respiratory system
• infertility in men due to lack of vas deferens

Question 7

cystic fibrosis diagnosis and treatment

Answer 7

• prenatal ultrasound, chest X-ray, lab tests, pulmonary function test
• CFTR modulators, medications to clear respiratory secretions, anti-inflammatory medications, antibiotics

Question 8

sickle cell anaemia cause

Answer 8

autosomal, point (missense) mutation resulting in the 6th amino acid of beta globin being valine instead of glutamic acid (HBB) gene.
- autosomal recessive

Question 9

sickle cell anaemia effects

Answer 9

• increased risk of strokes, seizures
• heart failure
• acute chest syndrome

Question 10

sickle cell anaemia diagnosis and treatment

Answer 10

• genetic screening, evidence of haemolysis, haemoglobin electrophoresis
• L-glutamine which results sickling, analgesis for pain management
• hematopoietic stem cell transplantation
• blood transfusions

Question 11

heavy metal poisoning causes

Answer 11

accumulation of the element lead in the body

Question 12

heavy metal poisoning effect

Answer 12

abdominal pain, confusion, headache, anaemia, irritability, seizures, coma, death, mental dullness, memory loss, hallucinations, delirium

Question 13

heavy metal poisoning diagnosis and treatment

Answer 13

• lab results
• chelation therapy, eliminate exposure

Question 14

macronutrients

Answer 14

nutrients we require in large amounts
- carbohydrates, proteins, fats, dietary fibre

Question 15

micronutrients

Answer 15

nutrients we require in trace amounts
- vitamins, minerals

Question 16

scurvy cause

Answer 16

insufficient vitamin C as body cannot synthesis vitamin C organically
- insufficient diet or oxidative stress (smoking, vaping)

Question 17

scurvy effect

Answer 17

impaired wound healing, weakened immune system, depression, microcytic anaemia

Question 18

scurvy diagnosis and treatment

Answer 18

• MRI
• increase dietary supplementation of vitamin C

Question 19

rickets cause

Answer 19

inadequate mineralisation of cartilage in children’s growth plates due to lack of vitamin D
- softening of bones causing impairment and malformation
- insufficient sun exposure
- chronic kidney disease or liver disease

Question 20

rickets effects

Answer 20

bone fractures, thinned soft skull bones, bowed legs, widening of ankles and wrist, muscle spasms and numbness

Question 21

rickets diagnosis and treatment

Answer 21

• X-ray
• oral vitamin D supplementation

Question 21

melanoma diagnosis and treatment

Answer 21

• lab results, dematological examination using dermatoscope
• medications (immunotherapy), surgery (surgical exicision)

Question 22

what is cancer

Answer 22

commonly attributed to unregulated and abnormal cell growth and division
- usually caused by mutagens

Question 22

melanoma cause

Answer 22

malignant skin cancer that arises from melanocytes (considered precancerous)
- environmental: DNA damage due to UV exposure
- genetic: MC1R, BRAF

Question 22

melanoma effects

Answer 22

• new skin lesions that can lead to ulcerations, pruritus, bleeding
• nausea, vomiting, loss of appetite, fatigue
• metastases most commonly on lymph nodes, skin, subcutaneuous tissue

Question 22

breast cancer effects

Answer 22

palpable mass, skin dimpling, metastasis to the bone, lung, liver and brain

Question 23

breast cancer diagnosis and treatment

Answer 23

• breast MRI, ultrasound, lab results
• surgery (masectomy), radiation therapy, chemotherapy

Question 23

breast cancer cause

Answer 23

uncontrolled growth of epithelial cells within the breast that can affect men and women.
- genetic aberrations, hormonal exposure, inherited susceptibility genes