Causes of disease
1. What causes diseases?
Can be caused by environmental factors or can be hereditary,
2. What factors affect diseases?
Age, prenatal factors, malnutrition
3. What does iatrogenic means?
May be caused in the hospital/ treatment given to parents to help with pregnancy
symptoms e.g., foetal alcohol syndrome
4. What is toxoplasmosis?
Infection transmitted to humans through animal faeces, from vegetables and soils
Can cause physical and neurological issues to unborn baby.
Child may seem normal at first but later can cause several disabilities.
5. What are intrinsic factors that cause diseases?
• Abnormal number of chromosomes (down syndrome)
• Genetic mutation
6. What type of screening do pregnant women get in the diagnosis of down syndrome?
• Chorionic villus sampling: 11-13 weeks gestation
• Amniocentesis: 14-20 weeks gestation
• Ultrasound scan (non-invasive): 20 weeks gestation
• Triple test/ barts test: maternal age
7. What is X-linked genes 1?
Defective gene for Haemophilia A,
• X-linked inherited disease.
• Bleeding disorder owing to deficiency in clotting Factor VIII
Diagnosis:
• Symptoms: prolonged bleeding (bruises, nosebleeds, bleeding gums, spontaneous bleeds),
joint swelling, blood in urine or stool
• Family history
• Laboratory test: clotting screens, Factor VIII assays
8. What are the inherited immunodeficiencies that can be X-linked?
• Frequent and recurrent infections, respiratory, skin, ears, meninges
• Digestive problems, e.g. cramping, nausea, diarrhoea, loss of appetite
• Inflammation and infection of internal organs
• irregularities in the relative numbers of blood cells, e.g. erythrocytes, platelets, WBC
differential
• Delayed growth and development
9. What are inborn errors of metabolism?
Defective or deleted gene resulting in a defective metabolic pathway:
• Difficult to diagnose as presentations may be non-specific and often mimic more common
disorders
• Many are treatable by a regime that aims to restore homeostasis in the faulty / disrupted
metabolic pathways.
Screening: Various tests of new-borns: heel-prick blood sample test
,Chronic inflammatory diseases
10. What are the modes of entry of infectious agents?
Mucous membranes
• Ingestion (faecal-oral): GI tract infected by contaminated food, water
• Most organisms killed by gastric acid, bile, or digestive enzymes - Some species can survive
and cause diseases
• Inhalation: (respiratory) - inhaled in droplets and dust particles
• Arthropod bite, e.g. mosquito, tick, Tsetse fly
11. What mechanisms can cause bacteria disease?
• Antigenic escape: Bordetella pertussis inhibit immune function of neutrophils and
macrophages:
• Antigen mimicry: leading to immune mediated damage: e.g. Rheumatic fever, post-
steptococcal glomerulonephritis
• Attachment using e.g. Pili, Fimbriae (E. Coli), M protein (Strept. pyogenes)
• Colonization and using host’s nutrition
• Invasion: hyaluronidase, collagenase, IgA proteases (Neisseria meningitis)
• Secretion of toxins
12. How does bacteria resist physical removal?
by:
• Producing fimbriae (pili)
• Adhesion molecules:
Fimbiral adhesins
Biofilm-producing glycocalyx
,Pathogens can survive and multiply by hiding from the immune system e.g,
Coagulase (Staphylococcus aureus):
• Stimulâtes Blood clotting around the pathogen
• Protects the bacteria from the immune system; but also prevents spread of the bacteria.
Streptokinase:
• Bacterial enzyme that dissolves blood clots, allowing bacteria to spread
• Streptokinase used therapeutically to treatment for heart attacks (to dissolve clots in the
coronary arteries)
Infection with Streptococcus pyogenes
• Primary pathogenic – humans are carriers
• Toxin Production
• Neutralization
• M Protein – Resistance To Phagocytosis
• Opsonization
• Autoimmune-mediated complications:
• Cross-reactivity of Ig with host proteins, e.g. rheumatic fever, glumerulonephritis
• Semmelweiss – childbed fever - pioneered hand-washing proceedures to prevent
Virus infections
• Obligatory intracellular parasites
• Interferons α and β
• Neutralizing antibodies
• Complement activation (Lysis of viruses)
• B lymphocytes a Th2 response
• NK cell activity
• Th1 response
• Cytotoxic T lymphocytes (CTL)
• People at risk:
• Immunodeficiencies: primary and secondary
• Defective NK cell function (herpesviruses)
MCQ in learning materials
, cell death and cell injury
13. What are the cellular response to assault?
14. What is the impact of cell injury?
15. What are stressors that induce cell injury?
• Oxidative stress:
• Hypoxia and Ischaemia
• Reperfusion
• Toxin-mediate damage
• Membrane damage, e.g. Endoplasmic Reticulum, Lysosomes, Mitochondria
• DNA damage
• Ageing
16. What happens in cell injury?
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