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ESA 2 -Rhianna > Clinical Conditions > Flashcards

Clinical Conditions Flashcards

1
Q

What is the nucleotide change, and therefore the amino acid change in sickle cell anaemia? What does this lead to?

A

A - T
Glu to Val

Leads to hydrophobic pockets when Hb is in the T state (in tissue, when it has given up oxygen). These clump together so the red blood cell is sickle shaped.

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2
Q

What is a sickle cell crisis? What are the precipitating factors?

A

Blocked capillaries by rbcs clumping together. Ischaemia.

Precipitated by things which promote T state, therefore shift the curve right to release more oxygen at tissue. Eg smoking, infection (increase O2 demand plus increased viscosity) 2,3 bpg, cold, strenuous exercise.

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3
Q

What is sickle cell trait? What is it protective against?

A

Heterozygous genotype - sickle cell is autosomal recessive

No symptoms but protective against malaria

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4
Q

What gene is implicated in cystic fibrosis? What is the effect of this? Which organs are affected?

A 
Cftr gene (autosomal recessive)
Usually the transporter pumps chloride ions back into blood using ATP and Na and water follow
In cystic fibrosis this is faulty and mucus becomes thick and salty. Affects sweat glands, lungs, gut, pancreas
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5
Q

What is thalassaemia? What is the difference between A and B?

A

Unstable haemoglobin due to loss of one type of globin.
A misses alpha
B misses beta

B is only picked up after birth because HbF doesn’t need beta anyway ( 2 alpha, 2 gamma)

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6
Q

What is missing in haemophilia a and b? What is its inheritance pattern?

A

A - clotting Factor 8
B - clotting factor 9

X linked recessive

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7
Q

What causes scurvy?

A

Vitamin c required for hydroxyl action of proline.

Deficiency means less hydroxyproline, less cross links in collagen, weakened

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8
Q

What is Down’s syndrome? When can it be screened for?

A

Trisomy 21
Characteristic facial features, impaired intelligence, heart defects
Screened at 12 week scan unlike most genetic diseases

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9
Q

What is trisomy? What can cause it?

A

Extra chromosome in one pair.

  1. Meiosis nondysjunction
  2. Anaphase lag
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10
Q

Name some important trisomy syndromes other than Down’s.

A

Edwards - trisomy 18
Patau’s - trisomy 13

Low survival past neonate

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11
Q

What is turners syndrome?

A

Monosomy X
Short, webbed neck, LD
Ovarian failure - low oestrogen, primary amenorrhoea, infertility

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12
Q

What is klinefelter’s syndrome?

A

XXY
Reduced testosterone, hypogonadism, gynocomastia, infertility
Increased risk of breast cancer.

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13
Q

What is placenta praevia?

A

Implantation of the placenta in the lower segment of the uterine wall, blocking the cervix. C section required.

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14
Q

What are the similarities and differences between marfan and Ehlers Danlos syndromes?

A

Both genetic disorders that cause weak connective tissue. Leads to unstable joints, fragile stretchy skin, weak blood vessel wall - risk of aortic rupture.

But marfan - misfolded fibrillin
Ehlers Danlos - type 3 collagen deficiency (lack of lysyl oxidase which cleaves tropocollagen to collagen)

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15
Q

What is vitiligo?

A

Autoimmune destruction of melanocytes leading to depigmentation.

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16
Q

What is psoriasis?

A

Autoimmune overproduction of skin epithelia, leading to excess stratum corneum.

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17
Q

What is the pathogenesis of osteogenesis imperfecta?

A

Autosomal dominant deficiency of type 1 collagen

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18
Q

Why does vitamin D deficiency lead to rickets?

A

Less absorption of calcium by the small bowel.

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19
Q

What is the adult version of rickets?

A

Osteomalacia. Can be vitamin d deficiency or impaired renal function, leading to less reabsorption of calcium

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20
Q

What are the two types of osteoporosis? What are they caused by?

A
  1. Menopausal. Due to decrease in oestrogen which downregulates osteoclasts.
  2. Age related. Due to loss of osteoblast function

Both due to clast>blast function

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21
Q

What is a preclinical decrease in bone density called?

A

Osteopenia

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22
Q

What is the result of too much growth hormone in adults and children?

A

Adults - acromegaly. Growth plates are fused so increase in bone width only, large tongue, large hands and feet, prominent facial features.

Children - gigantism. Excessive growth at epiphyseal growth plates so increased height.

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23
Q

What is achondroplasia?

A

Short limb dwarfism

Caused by mutation to the fibroblast growth factor receptor. Decreased endochondral ossification

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24
Q

What causes myasthenia gravis?

A

Autoimmune destruction of the nicotinic receptors at the end plate of the neuromuscular junction.
Ach gets broken down and removed from synapse before the intended signal has been transmitted.
Sudden drop in Ach leads to sudden loss of contraction.

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25
What are the key symptoms of myasthenia gravis?
Fatigue, sudden falling, weakness of small muscles: droopy eyelids, difficulties swallowing, chewing and sometimes breathing.
26
What are the key signs of muscular dystrophy?
Gower's sign - using hands on knees to push self to standing | Bilateral Winged scapulae
27
What causes muscular dystrophy? What is the prognosis?
X linked recessive Absence (Duchenne) or malformed (beckers) dystrophin Means that muscles tear on contraction. Degenerative until the chest muscles are destroyed.
28
How does botulinum toxin causes paralysis?
Cleaves the snare protein, preventing release of Ach. | No Ach, no contraction
29
What is malignant hyperthermia? How would you treat it?
Autosomal dominant mutation to ryanodine receptor causes reaction to general anaesthesia. Huge increase in intracellular calcium leads to muscle rigidity, hyperthermia, tachycardia. Treat with dantrolene
30
What is diabetes insipidus?
Loss of function in the ADH receptor. Kidneys stop retaining water. Polyuria and polydipsia
31
Give five causes of hypotonia.
1. Primary degeneration - muscular dystrophy 2. Nerve lesion 3. Neuropathy 4. Lack of use 5. Ageing
32
What causes tetany?
Infection by clostridium tetanii Toxin prevents release of GABA which normally relaxes skeletal muscle Leads to muscle spasms and prolonged contraction
33
What causes whiplash injury?
Sudden jerk of head (damage muscle and ligaments) but also can dislocate C5 and C6. Can damage the spinal cord.
34
What is the name given to a loss of muscle mass due to aging?
Sarcopenia
35
Why is hyperkalaemia so dangerous?
Permanent depolarisation of cardiac myocytes, inactivating Na channels. Accommodation occurs and you get bradycardia and eventual heart failure.
36
Why is hypokalaemia so dangerous?
Permanent hyperpolarisation of the cardiac myocytes. | This excites the funny current HCN channels, leading to tachycardia, ventricular fibrillation and cardiac arrest.
37
Define anaemia and give five general types.
Insufficient carriage of oxygen within the blood stream. 1. Iron deficient diet 2. Poor iron absorption 3. Haemorrhagic 4. Haemolytic 5. Vitamin deficiency - b12 and folic acid are involved in erythrocyte synthesis.
38
What is amyloidosis? What diseases can it lead to?
Misfolding of proteins so they become insoluble. Effects dependent on location but in brain - Alzheimer's
39
What is released from rhabdomyelysis? What can this lead to?
Break down of muscle - releases myoglobin and creatine kinase Blocks kidneys - proteinuria and kidney failure
40
Why is a1 anti trypsin deficiency associated with emphysema?
Excess trypsin which is normally secreted by neutrophils to break down elastin in inflammation. Too much leads to proteolysis of lung
41
Haemochromotosis is an excess of which mineral? What are the effects?
``` Iron Damage to : Liver - cirrhosis Heart - heart failure Pancreas - bronze diabetes Joints - osteoarthritis ```
42
In which liver disease is Mallory's hyaline formed?
Alcoholic hepatitis
43
What is cirrhosis?
Fibrosis of the liver. Nodules of hepatocytes surrounded by collagen bands.
44
What is the name of the bacteria that causes pneumonia?
Streptococcus pneumonae
45
What is the cause of meningitis?
Acute inflammation of the meninges, increased intracranial pressure: 1. brain damage by ischaemia 2. Coning and death Neisseria meningitides
46
What is Angio oedema?
Autosomal dominant mutation of c1 esterase inhibitor. Allows complement and therefore immune system to continue out of control. Leads to generalised oedema. When in airways - death.
47
What causes chronic granulomatous disease?
Neutrophils unable to form the superoxide radicals necessary to eliminate pathogens after phagocytosis. They form chronic infections and granulomas.
48
What is the name of the organism implicated in TB?
Mycobacterium tuberculosis
49
Describe the stages of syphilis.
1. Painless ulcer - chancre 2. Spread to systemic infection - rash, fever, liver, joints, lymph, muscles 3. Latent 4. Neurosyphilis
50
Why is Alport syndrome genetically interesting?
X linked dominant
51
What are the symptoms of Alport syndrome?
Defect in type 4 collagen leads to leaky basement membranes in kidney, ear and eye. Leads to nephritis haematuria and kidney failure
52
What conditions are caused by damage to types of collagen?
Type 1 - osteogenesis imperfecta Type 3 - ehlers danlos Type 4 - Alport
53
What is DIC? What causes it?
Disseminated intravascular coagulation Generalised activation of the clotting cascade, uses up the clotting factors and causing lots of thrombi and massive haemorrhage
54
What is the name given to a low platelet count? What can cause it?
Thrombocytopoenia Decreased production - folic acid deficient, bone cancer, infection Increased destruction - autoimmune
55
Describe 3 different types of dementia.
Alzheimer's is caused by amyloidosis Multi infarct is caused by lots of mini strokes Other types of dementia include Lewy body dementia (big pink circles within the axoplasm.)
56
What is Leriche syndrome?
Peripheral vascular disease specifically in the abdominal aorta where it bifurcates into the common iliac arteries. Claudication in buttocks and thigh Weak peripheral pulses Impotence
57
What can happen to the tendons if a fracture is not allowed to heal before weight bearing?
Myositis ossificans | Metaplasia of tendons and muscle to bone
58
What is chronic lymphocytic leukaemia?
Leukaemia (cancer of progenitor cells) Lymphocytic because it is cancer of the lymphocyte progenitor cells. Deposits immature cells into the circulation which crowds put the others - causes anaemia and infection.
59
What causes carcinoid syndrome?
Serotonin secreting carcinoid tumour. (Looks malignant but is benign) Syndrome involves flushing, wheezing, diahorrea, peripheral oedema
60
What is the most common cause of painless jaundice?
Pancreatic cancer
61
What are the key differences between basal cell carcinoma and squamous cell carcinoma of the skin?
Squamous - malignant and metastasises readily Basal cell - malignant and can cause severe invasion of local structures but does not metastasise
62
Which type of cancer is associated with the Epstein Barr virus? Why is it more common in Equatorial Africa?
Burkitts lymphoma | Epstein Barr causes glandular fever but is reactivated by malaria
63
Which gene is implicated in familial adenomatous polyposis? What is its function?
APC gene which is a tumour suppressor gene | Increased risk of colonic adenocarcinoma
64
Which genetic defect affects DNA excision repair in the skin, leaving it vulnerable to UV damage and malignant melanoma?
xeroderma pigmentosum
65
Which carcinogen increases the risk of bladder cancer?
2 napthylamine from the dye industry
66
Which cancer is associated with asbestos exposure?
Malignant mesothelioma | Cancer of the pleura
67
What hormones are secreted by bronchial squamous cell and bronchial small cell carcinomas?
Squamous - PTH - increased calcium release from bone - hypercalcaemia and osteoporosis Small cell - ADH - water retention at kidney ACTH - cortisol - cushings
68
Give 3 cancers which use biomarkers to identify them.
Testicular - HCG Ovarian - Ca 125 Breast - HER 2
69
What is chronic myeloid leukaemia?
Leukaemia (cancer of progenitor cells) Myeloid because it is cancer of the myeloid (wbc progenitor) cells. Deposits immature cells into the circulation which crowds put the others - causes anaemia and infection.
70
What is lymphoma? What is the difference between hodgkins and non Hodgkin's lymphoma? Which is more common?
Lymphoma is a cancer of the mature lymphocytes Hodgkins contains Reed Sternberg cells (large multi nucleate) Non hodgkins is much more common
71
What are the hormones involved in Addison's disease? Is the final hormone in the axis hyper or hypo?
Hypothalamus CRH - pituitary ACTH - adrenal cortex cortisol | Hypo
72
What are the hormones involved in cushings disease? Is the final hormone in the axis hyper or hypo?
Hypothalamus CRH - pituitary ACTH - adrenal cortex cortisol | Hyper
73
What are the hormones involved in Hashimoto's disease? Is the final hormone in the axis hyper or hypo?
Hypothalamus TRH - pituitary TSH - thyroid T3 and T4 | Hypo
74
What are the hormones involved in graves disease? Is the final hormone in the axis hyper or hypo?
Hypothalamus TRH - pituitary TSH - thyroid T3 and T4 | Hyper
75
What are the hormones involved in hypercalcaemia? Is the final hormone in the axis hyper or hypo?
Parathyroid PTH | Hyper
76
What are the hormones involved in hypocalcaemia? Is the final hormone in the axis hyper or hypo?
Parathyroid PTH - kidney, bone and intestine to increase Ca | Hyper
77
What is the difference between cushings disease and Cushing's syndrome?
Syndrome is a generic term regardless of cause | Disease is when the increased cortisol is caused by an increase in ACTH from the pituitary gland (ACTH dependent)
78
What is meant by ACTH dependent or independent cushings? How would you differentiate between them?
ACTH dependent - the increased cortisol comes from an increase in ACTH. This could be pituitary hyperplasia, or an ectopic pituitary ACTH independent - the increased cortisol comes from another cause. Eg adrenal tumour Dexamethasone suppression test. Dexamethasone should suppress cortisol by exerting negative feedback on pituitary. If no suppression even with high doses, then problem is with the pituitary.
79
When should you test cortisol levels in cushings and addissons?
Cushings - midnight when it should be low | Addissons - 9am when it should be high
80
What causes pseudo cushings?
Alcohol and depression
81
What is meant by primary and secondary Addison's disease? How would you differentiate between them?
Primary - decreased cortisol caused straight from adrenal failure eg autoimmune destruction Secondary. - decreased cortisol caused by something else suppressing the hpa axis. Eg pituitary destruction or steroids Synacthen (synthetic acth) test. Give at 9am, if cortisol rises then the problem is secondary.
82
Why does addissons disease cause hyperpigmentation of the skin?
Pomc is a precursor to ACTH as well as MSH (melanocyte stimulating hormone) In primary adrenal failure, ACTH will be high so there will also be more pomc and MSH. This causes increased melanin.
83
What is an addisonian crisis and what can precipitate it?
Acute decompensation of adrenal gland to produce enough cortisol. Caused by infection, pregnancy, surgery, allergy (anything which increases metabolic demand) Leads to hypotension and hypovolaemic shock
84
What are the symptoms of hypocalcaemia ?
Stones (kidney, gall bladder), moans (depression and fatigue) and groans (constipation and dehydration)
85
What are the symptoms of hypercalcaemia?
Parasthesia | Tetany
86
What is given to treat hypothyroidism? Why?
T4 (not T3) because it is weaker and has a longer half life
87
What is given to treat hyperthyroidism? How does it act?
Carbimazole. | Prevents the iodination of thyroglobulin. Iodine and thyroglobulin are the ingredients of thyroid hormone
88
What causes cretinism?
Hypothyroidism in neonates. Causes retardation and short stature. Cured by giving thyroxine (T4) within 3 weeks.
89
Give an autoimmune and another cause of hypothyroidism.
Hashimotos Autoimmune destruction of TSH receptors Iodine deficiency
90
Give an autoimmune and another cause of hyperthyroidism.
Graves Autoimmune stimulation of the TSH receptors Iodine supplements/amiodarone (anti arrhythmic containing iodine)
91
What causes a thyroid goitre?
In hypothyroid - there is hyperplasia to compensate for inefficiency In hyperthyroid - overstimulation of the TSH receptor causes hyperplasia
92
What is the mechanism behind organophosphate poisoning?
Irreversible inhibition of Ach esterase. This means constant Ach signal. Too much parasympathetic. (secretion and dilation). Death

ESA 2 -Rhianna (7 decks)

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