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ESA 1 - RJS > Clinical Conditions > Flashcards

Clinical Conditions Flashcards

1
Q

What is Marfan’s syndrome?

A

Autosomal dominant disorder where expression of fibrillin gene is abnormal therefore elastic tissue is abnormal
Sufferers are abnormally tall, exhibit arachnodactyly, have frequency joint dislocation and can be at risk of catastrophic aortic rupture

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2
Q

What is marasmus?

A

Severe malnutrition characterised by energy deficiency

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3
Q

What is Kwashiorkor?

A

Protein-energy malnutrition causing oedema of the abdomen

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4
Q

What is hyperlactaemia and lactic acidosis?

A

Hyperlacteamia - lactate level 2-5mM (below renal threshold)

Lactic acidosis - lactate level >5mM (above renal threshold - lowers blood pH)

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5
Q

What is cushing’s syndrome?

A

Excess cortisol (corticosteroids) which stimulates the increased breakdown of protein

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6
Q

What is the basis of refeeding syndrome?

A

Urea cycle involves 5 enzymes, these enzymes are down regulated during starvation as there is no ammonia to remove. When feeding starts again there is a build up of ammonia causes toxicity as the enzymes cannot remove the ammonia

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7
Q

What is PKU and describe the metabolic pathway?

A

Phenylketonuria - excess phenlyketones excreted in urine
Autosomal recessive genetic disorder
Phenylalanine —> tyrosine (phenylalanine hydroxylase) —> Noradrenaline, adrenaline, dopamine
PKU there is no/reduced enzyme (phenylalanine hydroxylase
Alternative pathway phenylalanine —> phenylpyruvate

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8
Q

What is homocystinuria?

A

Excess homocystine in urine (oxidised form of homocysteine)
Autosomal recessive genetic disorder
Homocysteinie —> cystathionine (CBS) —> cysteine
No/reduced CBS
Alternative pathway homocysteine —> methionine (Vit B12)

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9
Q

What is hyperlipoproteinaemia, why does this occur and what are the clinical signs?

A

Raised levels of lipoproteins
Causes: over-production/underremoval
Due to defective: enzymes, receptors, apoproteins
Clinical signs: Xanthelasma (cholesterol deposits on eye lids), tendon xanthoma (accumulation of lipid in tendons), corneal arcus

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10
Q

How does an atheroma form?

A

Oxidised LDL - Macrophages (engulfs faulty LDL) - foam cells - accumulate in cell wall - fatty streak - atheroma (plaque formation)

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11
Q

What happens during a toxic dose of paracetamol?

A

Phase 2 pathway (liver conjugation by glutathione) becomes inundated, causing metabolism by alternative pathway.
N-acetyl-p-benzo-quinone imine (NAPQI) is formed, which can be inactivated by glutathione, but when levels of glutathione reach 30% NAPQI reacts with nucleophilic aspects of cell leading to necrosis.

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12
Q

How does chronic alcohol toxicity occur and what is the treatment?

A

Excess NADH stimulates fat deposition (alcohol + NAD+ —> acetaldehyde + NADH)
Acetaldehyde damages liver cells (hepatocytes)
Treatment - Disulfiram (inhibitor of aldehyde dehydrogenase)

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13
Q

Describe diabetes mellitus type 1

A

Diabetes mellitus - chronic hyperglyceamia (prolonged elevation of blood glucose), associated with elevate glucose levels in urine (blood glucose level higher than renal threshold)
Fasting >7.0mM
Random >11.1mM
Type 1 - inability to produce sufficient insulin (loss of beta-cells), can be autoimmune or non-autoimmune, rapid onset, presence of ketones in urine

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14
Q

Describe diabetes mellitus type 2

A

Diabetes mellitus - chronic hyperglyceamia (prolonged elevation of blood glucose), associated with elevate glucose levels in urine (blood glucose level higher than renal threshold)
Fasting >7.0mM
Random >11.1mM
Type 2 - normal or increased insulin secretion but relative insulin resistance (defective insulin receptor mechanism, defective post-receptor events) - associated with obesity, absence of ketones in urine (signifies that beta-cells are sill producing some insulin)
Long term complications - muscle wasting & weight loss, hyperglyceamia, ketosis

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15
Q

What are the consequences of untreated diabetes mellitus?

A

Hyperglyceamia - polyuria and polydipsia becuase glucose exceeds renal threshold, blurring of vision, urogenital infections
inadequate energy utilisation - tiredness, weakness, weight loss
Chronic microvascular - eye disease (retinopathy), nepthropathy, neuropathy
Chronic macrovascular - coronary artery disease, stroke, poor peripheral circulation

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16
Q

Describe diagnosis of diabetes

A

Fasting venous glucose (>7.0mmol/L)
Random venous plasma glucose (>11.1mmol/L)
Oral glucose tolerance test
HbA1c

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17
Q

What is the treatment for diabetes mellitus

A

Type 1 - insulin

Type 2 - lifestyle, metformin (non-insulin therapies), insulin

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18
Q

Describe Addison’s disease

A

Hypoactivity of adrenal cortex

  1. Diseases of the adrenal cortex (auto-immune destruction) - reduces glucocorticoids and mineralcorticoids
  2. Disorders in pituitary or hypothalamus that lead to decreases secretion of ACTH or CRH - only affects glucocorticoids
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19
Q

Describe Cushing’s disease

A

Hyperactivity of the adrenal cortex

  1. Tumour causing hyperactivity (adenoma)
  2. Disorders in secretion of ACTH caused by pituitary adenoma (Cushing’s disease) or ectopic secretion of ACTH
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20
Q

What are the signs and symptoms of excess cortisol?

A

Hyperglyceamia causing polyuria and polydipsia (increased proteolysis and hepatic gluconeogenesis)
Wasting of proximal muscles producing thin arms and legs (increased muscle proteolysis)
Fat deposition in abdomen, neck and face (increased lipogenesis in adipose tissue)
Purple striae on lower abdomen, upper arms and thighs (catabolic effects on protein structures in skin)

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21
Q

What can increased pigmentation be a sign of?

A

Decreased cortisol

Negative feedback causes increased production of ACTH which in turn increases alpha-MSH secretion.

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22
Q

Describe the clinical tests for adrenocorticol function

A

Plasma cortisol and ACTH level
24hr urinary excretion of cortisol
Dexamethasone suppression test - Exogenous steroid that provides negative feedback to the pituitary to suppress ACTH and CRH release

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23
Q

Describe the dexamethasone suppression test and its results

A

Used for diagnosis of adrenocorticol disease
Exogenous steroid that provides negative feedback to pituitary to suppress ACTH and CRH release
Can be high dose or low dose tests
Low dose - normal response would be a reduction in cortisol level
Cushing’s disease (pituitary adenoma —> hyperactivity) is shows no decrease of cortisol in low dose test but reduction in high dose test
If no response is shown by either low dose or high dose then other causes of cushing’s syndromes must be investigated.

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24
Q

What are the signs and symptoms of hyperthyroidism?

A 
Heat intolerance
Increased perspiration
Weight loss
Tachycardia (increased cardiac output)
Increased appetite
Nervousness, irritability, emotional lability
Hyper-reflexive 
Bulging eye balls
25
Q

What is the major cause of hyperthyroidism?

A

Grave’s disease - autoimmune production of antibodies that stimulate TSH receptors of follicle cells (mimics low T3 and T4)

26
Q

What are the treatments for Grave’s disease?

A

Carbimazole - inhibits incorporation of iodine into thyroglobulin
Radioactive iodine - destroys thyroid gland as radioactive iodine enters follicle cell
Surgery

27
Q

What are the signs and symptoms of hypothyroidism?

A 
Cold intolerance
Decreased perspiration
Mild weight gain
Bradycardia (decreased cardiac output)
Constipation
Mood swings
Poor concentration, poor memory
Oedema
Dry skin, brittle nails, some hair loss
28
Q

What is the major cause of hypothyroidism?

A

Hastimoto’s disease - autoimmune destruction of thyroid follicles through production of antibody that blocks the TSH receptor on follicle

29
Q

What is the treatment for Hashimoto’s disease?

A

Oral T4

30
Q

Describe hypercalcaemia

A

Mainly causes by benign tumour in parathyroid gland.
Causes stones, moans and groans
Calcium stones, depression and abdominal pain
Treatment: fluids as excess fluid in urine & removal of tumour

31
Q

Describe hypocalceamia

A

Decreased plasma calcium
Serum Ca2+ maintained at bone expense if diet is deficient - Rickets in children
Treatment: Increase dietary Ca2+ intake

32
Q

Describe PTH deficiency

A

Hypoparathyroidism - normal serum clacium levels can not be maintained

33
Q

In terms of metabolism what occurs during pregnancy?

A

Fetus is adapted via placenta to take over maternal metabolism and ensure its own survival - supercedes hypothalamic-pituitary axis
Builds stores in first 20 weeks - more insulin but also more anti-insulin (makes muscles resistant to insulin so glucose goes across to foetus)
Increased sensitivity of beta-cell to blood glucose (more cells, bigger cells, increased insulin synthesis, increased secretion)

34
Q

Describe gestational diabetes

A

Anti-insulins more dominant than insulin —> increased blood glucose
Resolves after pregnancy

35
Q

What is caused by protein misfolding?

A

Amyloidoses
Misfolded insoluble form of normally soluble protein
High degree of beta-sheets
Highly ordered
Inter-chain assembly stabilised by hydrophobic interactions between aromatic amino acids

36
Q

Describe the effect of carbon monoxide poisoning

A

CO binds 250x more readily to haemoglobin than O2 and therefore blocks oxygen transport. It also increases the affinity of the other subunits for oxygen

37
Q

Describe thalassaemias

A

Group of genetic disorders where there is an imbalance in the number of alpha and beta chains
Beta-thalassaemia - decreased or absent beta chain production, alpha chains unable to form stable tetramers
Alpha-thalassaemia - decreased or absent alpha-chain production, beta-chains can form stable tetramers with increased affinity for oxygen

38
Q

What is haemophilia?

A

Defect in factor VIII (X-linked recessive disorder)

Unable to control clotting cascade

39
Q

What is vitiligo?

A

Autoimmune depigmentation

40
Q

What is alopecia areata?

A

Autoimmune attack against hair follicles

41
Q

What is psoriasis?

A

Abnormal epidermal growth and differentiation
Associated with extreme proliferation of epidermal basal layer, causing gross thickening of prickle cell layer and production of excessive stratum corneum cells

42
Q

What is malignant melanoma?

A

Malignant growth of melanocytes

Growth above basal membrane = good prognosis

43
Q

What is osteogenesis imperfecta?

A

Autosomal dominant group

Mutation in the gene for type 1 collagen - leads to weakening of bones

44
Q

What is osteoporosis?

A

Metabolic disease in which mineralised bone is decreased in mass to the point it no longer provides adequate mechanical support
Incomplete filling of osteoclast resorption bays

45
Q

What are the types of osteoporosis?

A

Type 1 - due to increase in osteoclast number, result of oestrogen withdrawal (postmenopausal women)
Type 2 - attenuated osteoblast function, due to age

46
Q

What are the osteoporosis risk factors?

A 
Genetic
Insufficient calcium
Insufficient calcium absorption & vitamin D
Lack of exercise
Cigarette smoke
47
Q

What is achondroplasia?

A

Short lim dwarfism
Autosomal dominant point mutation in fibroblast growth factor receptor 3 gene (FGFR3)
Results in:
1. Decreased endochondral ossification
2. Inhibited proliferation of chondrocytes in growth plate cartilage
3. Decreased celluar hypertrophy
4. Decreased cartilage matrix production

48
Q

What is rickets and osteomalacia?

A

Rickets occurs in childhood - lack of vitamin D causing bones not to harden
Osteomalacia - adult counterpart of rickets - lack of calcium/vitamin D

49
Q

What is atrophy?

A

Where there is a greater destruction of muscle compared to replacement - muscle wasting

50
Q

What is hypertrophy?

A

Rate of replacement of muscle is greater than destruction of muscle - building muscle

51
Q

What are the causes of muscle atrophy? (3)

A

Inactivation
Age
Denervation

52
Q

What is myasthenia gravis?

A

Autoimmune destruction of end-plate acetylcholine receptors
Loss of junctional folds at end-plate
Widening od synaptic cleft

53
Q

What is Duchenne muscular dystrophy?

A

Complete absence of dystrophin
Muscle fibers tear themselves apart on contraction
Enzyme creatine kinase is liberated into serum
Calcium enters cells causing necrosis
Pseudohypertrophy before fat and connective replace muscle fibres

54
Q

What is Beckers muscular dystrophy?

A

Deficiency in dystrophin

55
Q

What is ectopic pregnancy?

A

Implantation at anywhere other than uterine body - usually fallopian tube

56
Q

What is placenta preavia?

A

Implantation in the lower uterine segment

57
Q

What causes twinning during embryo development?

A

Either the splitting of the embryo after first cleavage to produce 2 blastocysts
Inner mass is duplicated producing two embryoblasts sharing the same placenta

58
Q

What is teratogenesis?

A

Process trhough which normal embryonic development is disrupted
Weeks 3-8 most sensitive

59
Q

Name a teratogenic agent?

A

Thalidomide
Rubella
Alcohol
Certain therapeutic drugs - anticonvulsants, warfarin, some ACE inhibitors

ESA 1 - RJS (6 decks)

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