Public Health + Genetics + Photocarcinogenesis Flashcards
Define illness behaviour
Illness behaviour = “the ways in which given symptoms may be differentially perceived, evaluated, acted upon (or not acted upon) by different kinds of person.”
What is the difference between illness and disease?
Disease is a pathological condition of the body:
- Objective & demonstrable
- Fits with the “body as machine” model
- Can be measured and quantified
Illness is the experience of discomfort and suffering:
- Subjective
- Depends on the individual concerned, their psychological & social situation, culture & belief
- Hard to measure and quantify
What is the difference between sensation and perception?
Sensation refers to the ‘raw data’ that impacts on the sense organs
Perception provides meaning from this raw data
What is Gestalt psychology?
Gestalt psychology - the human eye sees objects in their entirety before perceiving their individual parts; the whole is greater than the sum of its parts.
Infantile seizures _ ash leaf macule = ?
Tuberous sclerosis
Tuberous sclerosis
- Common clinical features?
- Type of inheritance
- Investigation for skin?
- Infantile seizures
- Ash-leaf macule (depigmented macule)
- Periungual fibromas
- Facial angiofibromas
- Hamartomas (angiomyolipomas) - heart, lung, kidneys
- Bone cysts
- Shagreen patches
- Enamel pitting
Autosomal dominant
Woods lamp
Give some genetic features of tuberous sclerosis
Autosomal dominant
Disease seen in all generations
50% risk of affected child if parent is affected
Disease severity can be variable (Variable expressivity)
Individuals with mutation may not show disease (Variable penetrance)
May be a multi-systemic disease (depends on what gene does)
Males and females equally likely to be affected
Tuberous sclerosis shows genetic heterogeneity.
What does this mean?
The phenotype can be produced by different genetic mutations - in this case it can be in two different genes which are even on different chromosomes- TSC1, TSC2
Widespread blistering and loss of skin 24h after birth = ?
Epidermolysis bullosa
Epidermolysis bullosa
- What pattern of inheritance?
- Severity?
Very diverse genetic route - dominant, recessive, new mutation or acquired
Variable severity – blistering at birth doesn’t determine prognosis
What are the three main types of epidermolysis bullosa?
What is the difference between them?
Different mutations lead to cleavage in different areas of skin:
- Simplex - epidermis
- Junctional - DEJ
- Dystrophic - dermis
Which condition can mimic epidermolysis bullosa?
EB aquisita is a rare autoimmune condition – autoantibodies attack collagen 17 -> mimicks mutation
Different mutations in genes cause disease in different ways. Define the following: - Haploinsufficiency - Dominant negative - Gain of function - Complete loss of protein
Haploinsufficiency = only one copy of working - reduced protein production
Dominant negative = expression of abnormal protein interferes with normal protein
Gain of function = mutant protein gains a new function, affecting cell processes
Complete loss of protein = autosomal recessive - 2 faulty copies of gene produce no protein
14 year old boy presents with multiple asymptomatic coffee coloured flat marks which have been appearing over the last few years
Clinical sign?
Diagnosis?
Café au lait macules
>5 suggests genetic disease
Neurofibromatosis type I
What are the two main clinical features in neurofibromatosis type I?
What are some other features?
Cafe-au lait macules Neurofibromas (soft neural tumours) - Plexiform neuroma - diffuse - Axillary or inguinal freckling - Optic glioma - 2 or more Lisch nodules - A distinctive bony lesion
