MODULE 8 IQ 2: Causes & Effects Flashcards
non-infectious diseases definition
can be life threatening and very harmful. not caused by a pathogen and cannot be transmitted to another individual
downs syndrome (trisomy 21) cause
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
downs syndrome (trisomy 21) effects
valve disease, hypothyroidism, obesity, early onset dementia, seizures, developmental delay
downs syndrome (trisomy 21) diagnosis and treatment
- ultrasound
- genetic counseling and genetic screening post birth
- therapy (physical, occupational, behavioural and speech)
cystic fibrosis cause
frameshift mutation caused by a CFTR gene defect on the long arm of chromosome 7.
- autosomal recessive
cystic fibrosis effects
- 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
cystic fibrosis diagnosis and treatment
- prenatal ultrasound, chest X-ray, lab tests, pulmonary function test
- CFTR modulators, medications to clear respiratory secretions, anti-inflammatory medications, antibiotics
sickle cell anaemia cause
autosomal, point (missense) mutation resulting in the 6th amino acid of beta globin being valine instead of glutamic acid (HBB) gene.
- autosomal recessive
sickle cell anaemia effects
- increased risk of strokes, seizures
- heart failure
- acute chest syndrome
sickle cell anaemia diagnosis and treatment
- genetic screening, evidence of haemolysis, haemoglobin electrophoresis
- L-glutamine which results sickling, analgesis for pain management
- hematopoietic stem cell transplantation
- blood transfusions
heavy metal poisoning causes
accumulation of the element lead in the body
heavy metal poisoning effect
abdominal pain, confusion, headache, anaemia, irritability, seizures, coma, death, mental dullness, memory loss, hallucinations, delirium
heavy metal poisoning diagnosis and treatment
- lab results
- chelation therapy, eliminate exposure
macronutrients
nutrients we require in large amounts
- carbohydrates, proteins, fats, dietary fibre
micronutrients
nutrients we require in trace amounts
- vitamins, minerals
scurvy cause
insufficient vitamin C as body cannot synthesis vitamin C organically
- insufficient diet or oxidative stress (smoking, vaping)
scurvy effect
impaired wound healing, weakened immune system, depression, microcytic anaemia
scurvy diagnosis and treatment
- MRI
- increase dietary supplementation of vitamin C
rickets cause
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
rickets effects
bone fractures, thinned soft skull bones, bowed legs, widening of ankles and wrist, muscle spasms and numbness
rickets diagnosis and treatment
- X-ray
- oral vitamin D supplementation
melanoma diagnosis and treatment
- lab results, dematological examination using dermatoscope
- medications (immunotherapy), surgery (surgical exicision)
what is cancer
commonly attributed to unregulated and abnormal cell growth and division
- usually caused by mutagens
melanoma cause
malignant skin cancer that arises from melanocytes (considered precancerous)
- environmental: DNA damage due to UV exposure
- genetic: MC1R, BRAF
