Anaesthetics and Genetics Flashcards

1
Q

Triad of anaesthesia

A

Analgesia
Hypnosis
Relaxtion

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2
Q

What is analgesia

A

Pain relief/protection from painful stimuli

usually required even if unconscious to suppress reflex autonomic responses

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3
Q

What is hypnosis

A

Unconsciousness - necessary for general

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4
Q

What is relaxation

A

muscle relaxation to provide immobility and allow access to cavities and artificial ventilation

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5
Q

General anaesthetics agents

A

suppress neuronal activity in dose dependent fashion

Hyperpolarise neurons

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6
Q

Inhalational general agents

A
Dissolve in membranes
Halogenated hydrocarbons
Uptake and exertion via lungs
MAC = minimum alveolar concentration, measure of potency - low number=high potency
Induction slow
Main role in maintenance of analgesia
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7
Q

how is function lost in general agents

A

Cerebral function lost from top down
LOC early - hearing later
Reflexes relatively spared

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8
Q

IV general agent

A

E.g. thiopentone, propofol
allosteric binding on GABA receptors
Rapid onset of uncosciousness
Can only cause temporary LOC if given as one off bolus

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9
Q

Sequence of GA

A

Can use inhalation for induction then inhalation for maintenance or can use IV for induction and then use IV or inhalation for maintenance
Most common IV followed by inhalational

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10
Q

GA effect on CVS

A

Depress CVS centre
Vasodilation and venodilation
Negatively inotropic
Reduced venous return and fall in CO

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11
Q

GA effect on resp

A

Respiratory depressants - reduce hypoxic and hypercarbic drive, decreased TV and increase rate
Paralyse cilia
Decrease FRC - lower lung volumes and VQ mismatch

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12
Q

Features of muscle relaxants

A

relax skeletal muscles

If systemic then unconsciousness must be provided so not paralysed but awake

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13
Q

Indications for muscle relaxants

A

ventilation and intubation
When immobility essential
Body cavity surgery

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14
Q

Problems with muscle relaxants

A

Awareness - paralysis but awake
Incomplete reversal - airway obstruction
Apnoea = dependence on airway and ventilatory support

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15
Q

Features of intraoperative anaglesia

A

prevention of arousal

Supression of reflex responses to painful stimuli

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16
Q

Features of LA

A

Lignocaine, bupivacaine
Sodium channel blockers
Acts indiscriminently on range of tissues
Prevent propagation of action potential
Must be unionised to cross membranes (inflamed tissue with low pH relatively resistant to LAs)
Limiting factor in use is toxicity

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17
Q

Signs and symptoms of LA toxicicty

A
Circumoral and lingual numbness and tingling
Light headedness
Tinnitus, visual disturbance
Drowsiness
CVS depression
Convulsions
Coma
Cardiorespiratory arrest
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18
Q

Difference between maintained and protected airway

A

Aiway maintained if open and obstructed

Only cuffed tube in trachea protects airway from contamination

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19
Q

Features of endotracheal intubation

A

Placement of cuffed tube in trachea
Laryngeal reflexes must be abolished
Laryngoscope muscle relaxant
Also possible in awake patient using local anaesthetic and fibre optic scope

20
Q

Why intubate?

A
Protect airway from gastric contents
Need for muscle relaxation
Shared airway with risk of blood contamination (tonsillectomy)
Need for right control of blood gases
Restricted access to airway
21
Q

Features of germline mutations

A

Present in egg or sperm
Inheritable
Cause cancer family syndrome

22
Q

Features of somatic mutations

A

Occur in non germline tissues

Are non inheritable

23
Q

What are oncogenes

A

normal genes that regulate cell growth
first mutation leads to susceptible carrier
second mutation or loss leads to cancer

24
Q

What is multistep carcinogenesis

A

normal epithelium –> hyper proliferative epithelium –> early adenoma –> intermediate adenoma –> late adenoma –> carcinoma –> metastasis

25
Q

What is retinoblastoma

A

Medical emergency
White pupillary reflex
Tumour of lining of eye

26
Q

Features of heridatary non-polyposis colon cancer

A

Mutation in mismatch repair gene
Excess of colorectal, endometrial, urinary tract, ovarian and gastric cancers
Opportunity for prevention by colonoscopy
Clinical features - early but variable age at CRC diagnosis (45), tumour site in proximal colon predominates)

27
Q

BRCA 1 and 2 features

A

Increased breast and ovarian cancer risk

Males increased risk of prostate and breast cancer

28
Q

Autosominal dominance inheritance features

A

Each child has 50% chance of inheriting alteration
No ‘skipped’ generations
Equally transmitted by men and women

29
Q

When to suspect hereditary cancer syndrome

A

Cancer in 2 or more close relatives (same side)
Early age at diangosis
Multiple primary tumours
Bilateral or multiple rare cancers
Characteristic pattern of tumours (breast and ovary)
Evidence of autosomal dominant transmission

30
Q

Breast cancer surveillance features

A

Early clinical surveillance 5 year less 1st cancer in family
Mammography 2 early from 35-40, yearly 40-50 (high 18 monthly 50-64)
Prophlyactic masectomy - total removes more than subscutaneous

31
Q

Prophylactic oopherectomy

A

Eliminates risk of primary ovarian cancer

Induces surgical menopause HRT till 50 does not change BRCA risk

32
Q

Modes of inheritance in multi-system disorders

A

NEw mutation or inherited
Chromosomal
SIngle gene disorders
Multifactorial

33
Q

What is Li-fraumeni syndrome

A

increased risk developing cancer
Autosomal dominant
Breast, osteosarcoma, soft tissues

34
Q

What is inheritance of CF

A

Autosomal recessive

35
Q

What is inheritance of myotonic dystrophy

A

Autosomal dominant

36
Q

Neurofibromatosis type 1 features

A

Autosomal dominant
2+ of diagnostic criteria fro diagnosis
Tumour supressor gene

37
Q

Neurofibromatosis diagnostic features

A
Cafe au last spots - more than 6 
Neurofibromas - 2 or more 
Axillary freckling
Lisch nodules
Optic glioma - field deficits, blindness
Thinning of long bone cortex - bent tibia
Family history
38
Q

Management of neurofibromatosis

A

Annual review of affected individuals and at risk children till diagnosis excluded
BP
Spine for scoliosis
Tibia for unusual angulation
Visual acuity and visual fields
Educational assessment
Ask patient to report any unusual symptoms

39
Q

Tuberous sclerosis features

A

Classic triad - epilepsy, learning difficulty, skin lesions
Autosomal dominant
Hamartomas in different organs
2 genes on different chromosome both cause TS with identical phenotypes (TSC1 and TSC2)

40
Q

Clinical features of tuberous sclerosis

A
Multi-system
Variable expression 
Learning difficulty 
Seizures
Depigmented macules
Angiofibromas
Fibrous plaque forehead
Shagreen patches
Ungula fibromas
Kidney cysts and angiomyolipomata
Rhabdomyomas in heart 
Phakomas in eye
41
Q

Screening of at risk relatives of tuberous sclerosis

A

Siblings and parents may be mildly affected
Surveillance and genetic counselling
Clinical examination - skin signs, retinal exam
Cranial MR scan
Renal ultrasound
Echo

42
Q

Features of myotonic dystrophy

A

Autosomal dominant
CTG repeat, exhibits anticipation with increasing severity in each generation
Bilateral late onset cataract
Muscle weakness, stiffness and myotonia
Low motivation, bowel problems, DM
Death post anaesthetic risk if not monitored

43
Q

Features of ALS

A

General sporadic
Mean age onset 55 years - younger in familial forms
5-10% familial (AD and AR)

44
Q

Clinical features of ALS

A
Progressive muscle weakness, wasting and increased reflexes
Limb and bulbar muscles involved
Pure motor signs
Cognition spared
Death due to respiratory failure
45
Q

Huntington’s features

A

Autosomal dominant
Adult onset
Unique mutation - CAG expansion
Movement disorder - chorea, athetosis, myoclonus, rigidity
Cognitive changes - poor planning and memory, subcortical dementia
Personality change
Psychiatric disease - depression, paranoia, psychosis
Onset late 30s-early 40s
Fully penetrant