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1
Q

CHA2DS2-VASc score?

A

Used to determine the need to anticoagulate a patient in atrial fibrillation

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2
Q

ABCD2 score?

A

Prognostic score for risk stratifying patients who’ve had a suspected TIA

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3
Q

NYHA score?

A

Heart failure severity scale

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4
Q

DAS28 score?

A

Measure of disease activity in rheumatoid arthritis

DAS stands for ‘disease activity score’ and the number 28 refers to the 28 joints that are examined in this assessment.

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5
Q

Child-Pugh classification?

A

A scoring system used to assess the severity of liver cirrhosis

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6
Q

Wells score?

A

Helps estimate the risk of a patient having a deep vein thrombosis

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7
Q

MMSE?

A

Mini-mental state examination - used to assess cognitive impairment

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8
Q

HAD scale?

A

Hospital Anxiety and Depression (HAD) scale - assesses severity of anxiety and depression symptoms

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9
Q

PHQ-9?

A

Patient Health Questionnaire - assesses severity of depression symptoms

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10
Q

GAD-7?

A

Used as a screening tool and severity measure for generalised anxiety disorder

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11
Q

Edinburgh Postnatal Depression Score?

A

Used to screen for postnatal depression

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12
Q

SCOFF score?

A

Questionnaire used to detect eating disorders and aid treatment

Sick

Control

One stone (14 lbs./6.5 kg.)

Fat

Food

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13
Q

AUDIT scoring?

A

Alcohol screening tool

Alcohol Use Disorders Identification Test

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14
Q

CAGE questionnaire?

A

alcohol screening tool

cut down/ annoyed/ guilty/ eye-opener

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15
Q

FAST screening?

A

alcohol screening tool

(also a mnemonic to rmb symptoms of stroke)

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16
Q

CURB-65 score?

A

Used to assess the prognosis of a patient with pneumonia

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17
Q

Epworth Sleepiness Scale?

A

Used in the assessment of suspected obstructive sleep apnoea

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18
Q

IPSS?

A

International prostate symptom score

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19
Q

Gleason score?

A

Indicates prognosis in prostate cancer

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20
Q

Bishop score?

A

Used to help assess the whether induction of labour will be required

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21
Q

Waterlow score?

A

Assesses the risk of a patient developing a pressure sore

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22
Q

FRAX score?

A

Risk assessment tool developed by WHO which calculates a patients 10-year risk of developing an osteoporosis related fracture

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23
Q

Ranson criteria?

A

Acute pancreatitis

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24
Q

ratio of chest compressions to ventilation?

A

30:2

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25
Defibrillator assesses a rhythm of PEA/ asystole -\> mx?
continue CPR for 2 mins then reassess rhythm IV adrenaline every 3-5 min
26
defibrillator assess a shockable rhythm ie. pulseless VT/VF mx?
a single shock followed by 2 mins of CPR adrenaline 1 mg is given once chest compressions have restarted after the third shock and then every 3-5 minutes. give amiodarone after 3 shocks
27
Biochemistry of dehydration?
↑↑ U, ↑Cr ↑albumin ↑HCT
28
Biochemistry of Low GFR?
↑U, ↑Cr, ↑H, ↑K, ↑urate ↑PO4, ↓Ca
29
Biochemistry of tubular dysfunction?
Normal U and Cr ↓K, ↓urate, ↓PO4, ↓HCO3
30
biochemistry of SIADH?
↓Na ↓ serum osmolality, ↑ urine osmolality (\>500), ↑ urine Na
31
Biochemistry of DI?
↑Na, ↑ serum osmolality, ↓ urine osmolality
32
Biochemistry of Conn's?
↓K, ↑Na, ↑HCO3
33
Biochemistry of Addisons?
↑K, ↓Na
34
Biochemistry of cholestasis?
↑↑ALP, ↑↑GGT, ↑Bilirubin, ↑AST
35
biochemistry of alcoholic hepatocellular disease?
AST:ALT\>2, ↑GGT
36
biochemistry of viral hepatocellular disease?
ALT\>AST
37
biochemistry of thiazide and loop diuretics?
↓Na, ↓K, ↑HCO3, ↑U
38
presentation of hypoNa?
\<135: n/v, anorexia, malaise \<130: headache, confusion, irritability \<125: seizures, non-cardiogenic pulmonary oedema \<115: coma and death
39
Causes of hypovolaemia hypoNa?
Urine Na \> 20 mM (= renal loss) - diuretics - addisons - osmolar diuresis e.g. glucose - renal failure Urine Na \< 20 mM diarrhoea vomiting burns
40
Causes of hypervolaemic hypoNa?
Cardiac failure Renal failure Nephrotic syndrome Cirrhosis
41
causes of euvolaemic hypoNa?
urine osmolality \>500 SIADH urine osmolality \<500 - water overload - severe hypothyroidism - Addisons
42
Mx of hyponatraemia?
Correct the underlying cause Replace Na and water at the same rate they were lost - Too fast → central pontine myelinolysis - Chronic: 10mM/d - Acute: 1mM/hr Asymptomatic chronic hyponatraemia -\> Fluid restrict Symptomatic / acute hyponatraemia / dehydrated -\> Cautious rehydration with 0.9% NS If hypervolaemic consider frusemide Emergency: seizures, coma -\> Consider hypertonic saline (e.g. 1.8%)
43
features of SIADH?
Concentrated urine: Na\>20mM, osmolality \>500 HypoNa or plasma osmolality \<275 Absence of hypovolaemia, oedema or diuretics
44
causes of SIADH?
Resp: SCLC, pneumonia, TB CNS: meningoencephalitis, head injury, SAH Endo: hypothyroidism Drugs: cyclophosphamide, SSRIs, CBZ
45
Mx of SIADH?
Rx cause and fluid restrict Vasopressin receptor antagonists - Demeclocycline - Vaptans
46
presentation of hyperNa?
Thirst Lethargy Weakness Irritability Confusion, fits, coma Signs of dehydration
47
Causes of hyperNa?
Usually caused by dehydration (↓ intake or ↑ loss) _Hypovolaemic_ GI loss: diarrhoea, vomiting Renal loss: diuretics, osmotic diuresis (e.g. DM) Skin: sweating, burns _Euvolaemic_ ↓ fluid intake DI Fever _Hypervolaemic_ Hyperaldosteronism (↑BP, ↓K, alkalosis) Hypertonic saline
48
Mx of hyperNa?
Give water PO if possible Otherwise, 5% dextrose IV slowly Use 0.9% NS if hypovolaemic or Na \>170mM -\> Causes less marked fluid shifts Aim for Na ↓ ≤12mM/d Too fast → cerebral oedema
49
Causes of Hyperkalaemia?
**artefact:** haemolysis K2EDTA contamination from FBC bottle Leucocytosis, thrombocytosis Drip arm **internal distribution** acidosis low insulin cell death/ tissue trauma/ burns digoxin poisoning suxamethonium **decreased excretion:** oliguric renal failure Addisons Drugs: ACEi, NSAIDs, K+ sparing diuretics **increased input:** massive transfusion excessive K therapy
50
Mx of hyperkalaemia?
_non-urgent: if K+ 6-6.5 w no ECG changes_ * Stop all K containing/ sparing drugs * Low K diet * Ensure adequate hydration and monitor UO * Tx hypotension * Give iv fluids if dehydrated * Monitor renal fn * consider Calcium resonium to decrease K _Emergency: evidence of myocardial instability or K\>6.5_ * 10ml 10% calcium gluconate * 100ml 20% glucose + 10u insulin (Actrapid) * Salbutamol 5mg nebulizer * Haemofiltration (usually needed if anuric) * Calcium resonium 15g PO or 30g PR
51
symptoms of hypoK?
Muscle weakness Hypotonia Hyporeflexia Cramps Tetany Palpitations Arrhythmias
52
ECG changes of hypoK?
Result from delayed ventricular repolarisation Flattened / inverted T waves Prominent U waves (after T waves) ST depression Long PR interval Long QT interval
53
causes of HypoK?
**_Internal Distribution_** Alkalosis ↑ insulin β-agonists **_↑ Excretion_** GI: vomiting, diarrhoea, rectal villous adenoma Renal: RTA (esp. type 2), Bartter syn. Drugs: diuretics, steroids Endo: Conn’s syn., Cushing’s syn. **_↓ Input_** Inappropriate IV fluid management
54
Mx of hypoK?
1mM K ↓ = ~200-300mmol total deficit Don’t give K if oliguric **_Never give STAT fast bolus_** _Mild: K \>2.5_ Oral K supplements ≥80mmol/d _Severe: K \<2.5 and/or dangerous symptoms_ IV KCl cautiously 10mmol/h (20mmol/h max) Best to give centrally (burning sensation peripherally) Max central conc: 60mM Max peripheral conc: 40mM _Mg Replacement_ Pts. are often Mg deplete too Until Mg is replaced the K will not return to normal levels despite K replacement Give empiric Mg replacement
55
in hypoK, what other electrolyte do u also need to correct?
Mg replacement
56
Role of Mg in PTH release?
low Mg prevents PTH release may -\> low Ca
57
symptoms of hypocalcaemia?
tetany perioral parasthesiae carpopedal spasms Cardiomyopathy (↑ QTc -\> TdP) seizures confusion dermatitis: atopic, exfoliative
58
signs of HypoCa?
Trousseau's sign: BP cuff inflated + held in place for 3 minutes-\> occlude the brachial artery. In the absence of blood flow, the patient's hypocalcemia and subsequent neuromuscular irritability will induce spasm of the muscles of the hand and forearm Chvostek's sign: facial n is tapped in front of tragus -\> facial muscles on the same side of the face will contract momentarily due to hyperexcitability of nerves.
59
causes of hypoCa?
_With ↑ PO4_ CKD Hypoparathyroidism / pseudoyhpoparathyroidism ``` ↓Mg Acute rhabdomyolysis (muscle Ca deposition) ``` _With normal or ↓ PO4_ Osteomalacia Active pancreatitis Respiratory alkalosis
60
Mx of hypoCa?
**_Mild_** Ca 5mmol QDS PO Daily Ca levels **_CKD_** Alfacalcidol (1-OH-Vit D3) **_Severe_** 10ml 10% Ca gluconate IV (2.25mmol) over 30min Repeat as necessary
61
presentation of hyperCa?
**_Stones_** Renal stones Polyuria and polydipsia (nephrogenic DI) Nephrocalcinosis **_Bones_** Bone pain Pathological #s **_Moans: depression, confusion_** **_Groans_** Abdo pain n/v and constipation Pancreatitis PUD (↑gastrin secretion) high BP decreased QT interval
62
Causes of hyperCa?
Most commonly malignancy or 1O HPT **_With ↑ PO4_** _↑ ALP (e.g. ↑ bone turnover)_ Bone mets: thyroid, breast, lung, kidney, prostate, colon Sarcoidosis Thyrotoxicosis Lithium _Normal ALP_ Myeloma Hypervitaminosis D Sarcoidosis Milk alkali syn. **_With normal or ↓ PO4_** 1O or 3O HPT Familial benign hypercalciuria: AD, ↑ Ca-sensing receptor set-point Paraneoplastic: PTHrP (but ↓PTH)
63
Ix of HyperCa?
↑PTH = 1o or 3O HPT ↓PTH: most likely Ca FBC, protein electrophoresis, CXR, bone scan
64
mx of hyperCa?
Dx and Rx underlying cause **_Rehydrate_** 1L 0.9% NS/4h Monitor pts. hydration state **_Frusemide_** Only start once pt. is volume replete Calciuric + makes room for more fluids **_Bisphosphonates_**: Ca bisphosphonate can’t be resorbed by osteoclasts Only used in hypercalcaemia of malignancy Can obscure Dx as → ↓Ca, ↓PO4 and ↑PTH E.g. Pamidronate, Zoledronate (IV)
65
risk factors of osteoporosis?
SHATTERED Steroids Hyperthyroidism, HPT, HIV Alcohol and Cigarettes Thin (BMI \<22) Testosterone Low Early Menopause Renal / liver failure Erosive / inflam bone disease (e.g. RA, myeloma) Dietary Ca low / malabsorption
66
T score vs Z score?
T: no. of SDs away from youthful average Z: no. of SDs away from age-matched average
67
indications for DEXA scan?
Low-trauma # Women ≥65yrs w one or more risk factors Before giving long-term steroids (\>3mo) Parathyroid disorders, myeloma, HIV
68
Bisphosphonates SEs?
GI upset Oesophageal ulceration / erosion: Take w plenty of water on an empty stomach and refrain from lying and don’t eat for 30min. Diffuse musculoskeletal pain Osteonecrosis of the jaw
69
Mx of osteoporosis?
Decision to instigate pharmacological Rx is based upon age, RFs, and BMD. FRAX can estimate 10yr # risk _Conservative_ Stop smoking, ↓ EtOH Wt. bearing or balancing exercise (e.g. Tai Chi) Ca and vit-D rich diet Home-based fall-prevention program w visual assessment. _Primary and secondary prevention of #s_ Bisphosphonates: alendronate is 1st line Ca and Vit D supplements: e.g Calcium D3 Forte Strontium ranelate: bisphosphonate alternative
70
Alternative medications for 2O prevention of osteoporotic #s?
Raloxifene: SERM, ↓ breast Ca risk cf. HRT Teriparetide: PTH analogue → new bone formation Denosumab: anti-RANKL → ↓ osteoclast activation
71
diagnostic ix of Hereditary spherocytosis?
cryohaemolysis test snd EMA binding test Osmotic fragility test
72
mx of osteomalacia?
Dietary: Calcium D3 Forte Malabsorption or hepatic disease: Vit D2 (ergocalciferol) PO, Parenteral calcitriol Renal disease or vit D resistance: 1α-OH-Vit D3 (alfacalcidol) ↓1,25-(OH)2 Vit D3 (calcitriol) Monitor plasma Ca
73
Ix of Heart Failure?
_Previous myocardial infarction_ arrange echocardiogram within 2 weeks _No previous myocardial infarction_ measure serum natriuretic peptides (BNP) if levels are 'high' arrange echocardiogram within 2 weeks if levels are 'raised' arrange echocardiogram within 6 weeks
74
in tumour lysis syndrome, apart from high K+, phosphate and low Ca what else do u need?
one or more of: increased serum creatinine (1.5 times upper limit of normal) cardiac arrhythmia or sudden death seizure
75
what supportive therapy can you provide to pt w dementia?
offer 'a range of activities to promote wellbeing that are tailored to the person's preference' cognitive stimulation therapy reminiscence therapy and cognitive rehabilitation memory clinic
76
mx of mumps?
rest paracetamol for high fever/discomfort notifiable disease
77
what antibiotic can cause a disulfiram-like reaction when combined w ethanol?
Metronidazole + Cefoperazone, a cephalosporin Clinical features of this include head and neck flushing, nausea and vomiting, sweatiness, headache and palpitations.
78
mx of secondary pneumothorax \<1cm and asymptomatic?
management is with admission, high flow oxygen, and reassessment in 24 hours.
79
what should you assess for before offering a pt azathioprine or mercaptopurine?
TPMT activity thiopurine methyltransferase defect-\> enhanced bone marrow toxicity which may cause myelosuppression, anemia, bleeding tendency, leukopenia & infection
80
Strong assoc of syringomyelia with?
Arnold-Chiari malformation
81
mx of essential tremor?
propranolol is first-line
82
most common cause of titubation (head tremor)?
essential tremor
83
1st line mx of chronic heart failure?
ACEi + BB
84
first line ix of acute mesenteric ischaemia (before CT)?
bloods: raised lactate (lactic acidosis)
85
mx of acute haemolytic transfusion reaction?
immediate transfusion termination, generous fluid resuscitation with saline solution and informing the lab
86
mx of latent TB?
3 months of isoniazid (with pyridoxine) and rifampicin OR 6 months of isoniazid (with pyridoxine)
87
concurrent use of BB and verapamil?
may precipitate severe bradycardia Non-dihydropyridine calcium channel blockers (verapamil, diltiazem) and beta blockers are both negatively inotropic and their combined effects can cause severe bradycardia and even asystole.
88
main indications for placing a chest tube in pleural infection?
frankly purulent or turbid/cloudy pleural fluid The presence of organisms identified by Gram stain and/or culture Pleural fluid pH \< 7.2
89
predisposing factors to obstructive sleep apnoea?
obesity macroglossia: acromegaly, hypothyroidism, amyloidosis large tonsils Marfan's syndrome
90
mx of obstructive sleep apnoea?
weight loss CPAP is first line for moderate or severe OSAHS intra-oral devices (e.g. mandibular advancement) may be used if CPAP is not tolerated or for patients with mild OSAHS where there is no daytime sleepiness
91
which bones does Pagets disease tend to affect?
axial skeleton - ie pelvis, lumbar spine, skull, femur, tibia
92
complications of Paget's disease?
Nerve compression: deafness, radiculopathy High output CCF Osteosarcoma (\<1% after 10yrs) -\> sudden onset or worsening of bone pain
93
Ix of Pagets Disease?
HIGH ALP Bone scan: hot spots X-ray: bone enlargement, sclerosis, patchy cortical thickening, deformity, wedge-shaped lytic lesions, osteoporosis circumscripta (well defined lytic skull lesions)
94
Biochemistry of pts w osteoporosis?
usually Ca, PO4, Alk Phos, PTH all normal \*Alk Phos may be raised if recent #
95
Looser's zones on Xrays?
pseudofractures found in osteomalacia/ Rickets A band of bone material of decreased density may form alongside the surface of the bone. Thickening of the periosteum occurs. The formation of callouses in the affected area is also common. This gives the appearance of a false fracture.
96
Biochemistry of Osteomalacia?
Ca LOW PO4 Low PTH high Alk Phos high
97
Biochemistry of Rickets
Ca Normal or Low PO4 low PTH high ALk phos High
98
Biochemistry of primary hyperparathyroidism?
Ca high PO4 low PTH inappropriately normal/ High Alk phos High
99
causes of primary hyperPTH?
most common 80% Parathyroid adenomas 20% gland hyperplasia \<0.5% parathyroid ca
100
Biochemistry of secondary HyperPTH
Ca low PO4 high PTH high Alk Phos high
101
Biochemistry of tertiary hyperPTH?
Ca high PO4 low/ n Alk Phos high PTH high
102
Biochemistry of hypoPTH?
Ca low PO4 high PTH inappropriately N/ low Alk phos N
103
cause of hypoPTH?
surgical autoimmune congenital - DiGeorge's
104
Biochemistry of Paget's Disease?
Ca normal PO4 normal ALK phos HIGH PTH normal
105
Classification of hyperlipidaemia?
_Common Primary Hyperlipidaemia_ - 70% - Dietary and genetic factors - HIGH LDL only _Familial primary hyperlipidaemia_ - multiple phenotypes - high risk of CVD _Secondary hyperlipidaemia:_ - high LDL: nephrotic syndrome, cholestasis, hypothyroidism, Cushing's, Drugs: thiazides, steroids Mixed high LDL and high TG: T2DM, Alcohol, Chronic renal failure
106
Causes of secondary hyperlipidaemia?
high LDL: nephrotic syndrome, cholestasis, hypothyroidism, Cushing's, Drugs: thiazides, steroids Mixed high LDL and high TG: T2DM, Alcohol, Chronic renal failure
107
Types of Familial primary hyperlipidaemias?
1o hypercholesterolaemia: commonest, ApoB (LDL receptor) defect -\> high LDL-C Combined hyperlipidaemia: high LDL and TG Lipoprotein lipase deficiency: high chylomicrons Hypertriglyceridaemia
108
presentation of hyperlipidaemia?
CVD Xanthomata: - corneal arcus - xanthelasma on eyelids - planar: orange streaks in palmar creases - tuberous: plaques on elbows, knees (over joints) - tendons Pancreatitis
109
Ix of hyperlipidaemia?
Plasma cholesterol Plasma HDL + LDL Fasting TGs TC:HDL ratio is best predictor of CV risk
110
Aims of tx for hyperlipidaemia?
Total cholesterol \< 4 Total cholesterol: HDL ratio \< 4 LDL \< 2
111
Mx of Hyperlipidaemia?
Lifestyle changes: weight loss, increase exercise, diet (increase fibre, fruit and veg, less sat fat) 1st Line: Statins e.g. Simvastatin 40mg PO nocte HMG-CoA reductase inhibitors -\> decrease cholesterol synthesis 2nd line; fibrates: PPARa antagonists, decrease TGs Ezetimibe: inhibits cholesterol absorption Niacin/ Nicotinic acid: raises HDL, lowers LDL
112
What is Porphyria Cutanea Tarda?
Commonest porphyria Cutaneous manifestations only Uroporphyrinogen decarboxylase deficiency photosensitivity: blistering skin lesions facial hyperpigmentation and hypertrichosis
113
ix of porphyria cutanea tarda?
high Urine and serum porphyrins high serum ferritin
114
Precipitants of porphyria cutanea tarda?
sunlight alcohol
115
Mx of porphyria cutanea tarda?
Avoid sun Phlebotomy/ iron chelators chloroquine
116
Precipitants of acute intermittent porphyria?
P450 inducers: anti epileptics, alcohol, OCP/ HRT infection/ stress fasting pre-menstrual
117
Ix of acute intermittent porphyria?
Urine sample! keep it shielded from light Increased **ALA and PBG in urine** 'port wine urine' as seen by person when PBG gets oxidised to porphobilin (deep yellow -\> purple)
118
what are porphyrias?
diseases due to deficiencies in the enzymes of the Haem biosynthesis pathway. -\> overproduction of toxic haem precursors leading to 3 presentations. 1. acute neuro-visceral 2. acute cutaneous 3. chronic cutaneous
119
ALA Synthase deficiency
ALA synthase produces ALA (5-aminolaevulinic acid) from succinyl CoA + glycine). \*not a porphyria Causes X-linked sideroblastic anaemia
120
Acute intermittent porphyria what enzyme is defecient?
HMB synthase (hydroxymethylbilane) aka PBG deaminase (porphobilinogen deaminase) -\> buildup of ALA and PBG in serum and urine.
121
Acute intermittent porphyria what inheritance?
autosomal dominant
122
What causes the neurovisceral symptoms in porphyria?
5-ALA (5-aminolaevulinic acid) is neurotoxic
123
what causes the skin lesions in porphyria?
porphyrins. porphyrinogens become oxidised to porphyrins, which under light become activated porphyrins and oxygen. porphorinogens are colourless while porphyrins are highly coloured. also, porphyrinogens get oxidised in the circulation where there is high [O2] compared to in the cells where it is made.
124
Acute intermittent porphyria symptoms
Auto dominant inheritance HMB synthase deficiency accumulation of PBG and ALA -\> neurovisceral attacks abdo pain, nausea and vomiting, tachycardia, HTN constipation and urinary incontinence hypoNa (SIADH) seizures, psych distrubances NO cutaneous manifestations
125
Treatment and Mx of acute intermittent porphyria
Avoid precipitating factors - adequate nutritional intake, avoid precipitant drugs, prompt treatment of infection/ illness **IV Carbohydrate + IV Haem Arginate (key tx)** - inhibits ALA synthase, which turns off the pathway and reduces [ALA]
126
porphyria cutanea tarda PCT presentation
blistering inherited/ acquired e.g. liver disease/ drugs formation of vesicles on sun exposed areas of skin crusting, superficial scarring, pigmentation
127
PCT porphyria cutanea tarda which enzyme deficiency?
uroporphyrinogen decarboxylase deficiency Ix: raised urinary uroporphyrins + coproporphyrins + increased ferritin mx: avoid precipitants (alcohol, hepatic compromise)
128
Presentation of homocystinuria?
Marfanoid habitus Downward lens dislocation mental retardation heart rarely affected recurrent thrombosis
129
What is homocystinuria
auto recessive Cystathione B-synthetase deficiency -\> accumulation of homocystine
130
Mx of homocystinuria?
Some response to high-dose pyridoxine
131
what is mutated in reticular dysgenesis (autosomal recessive severe SCID)
adenylate kinase 2 (AK2) - a mitochondrial enzyme metabolism enzyme
132
mutation in AK2 + low neutrophils, lymphocytes, macrophages, platelets, requiring bone marrow transplantation
reticular dysgenesis type of SCID
133
what is mutated in Kostmann syndrome
HAX-1 (HCLS1 associated protein X-1)
134
severe congenital neutropenia with HAX1 mutation
Kostmann syndrome
135
Ix of Kostmann Syndrome?
PMN: absent Adhesion molecules: normal NBT/DHR: absent Pus: none
136
Mx of Kostmann syndrome?
G-CSF or BMT
137
episodic neutropenia every 4-6 weeks, mutation in ELA2
cyclic neutropenia
138
what is mutated in cyclic neutropenia
neutrophil elastase ELA-2
139
what is the inheritance of cyclic neutropenia
autosomal dominant
140
Mx of Cyclic neutropenia?
G-CSF
141
recurrent infections, very high neutrophil counts in blood during infection, absence of pus formation, delayed umbilical cord separation.
leukocyte adhesion deficiency
142
in leukocyte adhesion deficiency, what is the mutation/ deficiency?
CD18 deficiency. CD11a/DC18 and CD11b/CD18 expressed on neutrophils regulate neutrophil adhesion and transmigration
143
what receptors are involved in neutrophil adhesion and transmigration?
CD11a/ CD18 CD11b/CD18
144
what complement proteins are involved in the classically pathway?
C1, C2, C4
145
what is the main complement protein that is activated by the classical, alternative and lectin pathway?
C3
146
Ix of Leukocyte Adhesion Deficiency?
PMN increased Absent Adhesion molecules
147
Nitroblue Tetrazolium test abnormal/ negative
chronic granulomatous disease
148
in chronic granulomatous disease, what is deficient?
NADPH oxidase
149
which complement protein is involved in the alternative pathway?
C3 C3 binds directly to techoic acid on Gram + bacteria and to LPS on gram - bacteria + involves factors B, I, P
150
Which complement proteins are involved in the lectin pathway?
C2 and C4
151
mx of chronic granulomatous disease
IFN gamma
152
dihydrorhodamine flow cytometry test abnormal / negative
chronic granulomatous disease
153
chronic granulomatous disease presentation
susceptibility to bacteria esp catalase + bacteria. (ie recurrent pneumonias + abscesses) granuloma formation + lymphadenopathy + hepatosplenomegaly
154
chronic granulomatous disease pathology
absent respiratory burst due to deficiency of one of the components of NADPH oxidase. impaired killing if intracellular microorganisms and excessive inflammation with granuloma formation
155
Ix of Chronic Granulomatous Disease?
Nitroblue Tetrazolium test abnormal + dihydrorhodamine flow cytometry test abnormal
156
susceptibility to infection with mycobacteria (TB and atypical), BCG, Salmonella. What condition?
deficiency of IFNgamma/ IL12 and their receptors.
157
what happens when one is deficient in early classical pathway? ie. C1/2/4
immune complexes fail to activate complement pathway -\> increased susceptibility to infection increased load of self-antigens deposition of immune complexes which stimulated inflammation in skin, joints, kidneys e.g. SLE
158
complement deficient - susceptibility to?
encapsulated bacteria e.g. neisseria meningitidis, strep pneumoniae, h influenza
159
IL12/ IFNy or receptor deficiency - what organisms are they susceptible to?
Mycobacteria and salmonella BCG infection after vaccination No granulomas
160
what immune cells are vital for protection against viral infections and tumours?
NK cells and CD8 T cells
161
4 month old, infections of all types, failure to thrive, persistent diarrhoea
SCID
162
increased infection in patients who have another cause of immune impairment e.g. premature infant, HIV infection, chemotherapy, antibody deficiency
MBL deficiency
163
DiGeorge's syndrome
CATCH 22 Cardiac abnormalities (esp Tetralogy of Fallot) Abnormal facies (low set ears, high forehead) Thymic aplasia Cleft palate HypoCa/ HypoPTH Chr22- deletion at 22q11.2
164
Thymic aplasia - reduced numbers of T cells. which condition?
DiGeorge's
165
low T cells and NK cells, normal B cells, but low Igs.
X linked SCID
166
Absent expression of MHC Class II molecules
Bare Lymphocyte Syndrome type II
167
absent expression of MHC Class I molecules
Bare lymphocyte syndrome type I
168
Bare lymphocyte Syndrome type II
``` absent MHC Class II -\> profound deficiency of CD4+ T cells + failure to produce IgA/ IgG because no class switching ``` infections of all types. may be associated with **sclerosing cholangitis** FTT after 3 months
169
In Bare Lymphocyte Syndrome Type II, which cell populations are reduced?
CD4 IgG, IgA
170
tx of digeorge's syndrome?
Thymus transplant
171
in DiGeorge's Syndrome, what cell populations are reduced?
CD4, CD8 T cells IgG, IgA
172
mutation in X linked SCID?
IL2R gamma chain mutation (T cell- but B cells normal + IgM may be normal)
173
mutation of auto recess SCID?
ADA deficiency Adenosine Deaminase -\> everything T and B cells are low
174
Hyper IgM syndrome aka
CD40L deficiency
175
what gene is defective in Bruton's X linked hypogammaglobulinaemia
B cell tyrosine kinase gene | (BTK gene)
176
absence of mature B cells and no circulating Ig. Recurrent infections. Family history where brother is affected.
X linked Bruton's hypogammaglobulinaemia
177
recurrent respiratory tract and GI tract infections
selective IgA deficiency
178
Selective IgA deficiency patients are at risk of what during blood transfusion?
anaphylaxis due to introduction of donor IgA
179
High IgM, undetectable Ig G, Ig A, Ig E. Normal number circulating B cells. failure of class switching due to T cell defect. recurrent infections- e.g. h influenza, strep pneumo, pseudomonas, pneumocystis jiroveci
Hyper IgM syndrome aka CD40L defciency
180
what gene is mutated in Hyper IgM syndrome?
CD40 Ligand gene (CD40L normally on T cell)
181
Other than HIV, what other condition increases risk of pneumocystis jiroveci infection?
Hyper IgM syndrome
182
What cell populations are reduced in Brutons hypogammaglobulinaemia?
B cells low IgM/G/A all low because pre-B cells cannot mature due to B cell tyrosine kinase deficiency
183
what cell populations are reduced in Hyper IgM syndrome?
raised IgM low Ig G/A due to defective CD40 signalling - B cells cannot undergo class switch recombination and somatic hypermutation
184
what condition is assoc w selective IgA deficiency?
Coeliac Disease
185
no germinal centre development within lymph nodes and spleen. No class switching occurring.
Hyper IgM syndrome
186
after an acute anaphylactic episode, how to confirm via ix?
measure serum mast cell tryptase (should return to baseline by 6h)
187
first line test for allergy
skin prick (more sensitive and specific than blood tests)
188
SLE associated with which complement deficiencies?
most common C2 C1q, C1r, C1s, C2 and C4 deficiency all seen in SLE
189
Ix of Complement Dysfunction?
C3, C4 level CH50: classical pathway AP50: alternative pathway if CH50 and AP50 both abnormal w normal C3/4 = final common pathway deficiency (C5-9)
190
Presentation of B, I, P deficiency?
deficiency in alternative pathway increased risk of infection w encapsulated bacteria - Meningococcus, pneumococcus, H influenzae FHx of infection Abnormal AP50
191
presentation of C5-9 deficiency?
deficiency in terminal pathway -\> inability to MAC (membrane attack complex) increased risk of infection w encapsulated bacteria - Meningococcus, pneumococcus, H influenzae FHx of infection \*CH50 and AP50 abnormal w normal C3,4
192
presentation of common variable immune deficiency?
recurrent bacterial infections: - bronchiectasis - sinusitis usually chronic lung disease + GI infections Autoimmune disease Granulomatous disease
193
What cell populations are decreased in Common variable immune deficiency
Low Ig G and Ig A cause is poorly understood Tx usually lifelong Ig replacement therapy
194
X-linked recessive disease eczema, thrombocytopenia, immunodeficiency and bloody diarrhoea
Wiskott-Aldrich Syndrome
195
what gene mutation is implicated in Wiskott-Aldrich?
X-linked WASP gene mutation
196
Features of Wiskott-Aldrich Syndrome?
eczema thrombocytopenia immunodeficiency raised Ig E
197
what immunoglobulins are low/ raised in Wiskott-Aldrich Syndrome?
Ig A and Ig E are raised Ig M is low Ig G: may be normal, raised, low
198
Where is the mutation in X linked SCID?
Mutation of gamma chain of IL2 receptor on chromosome Xq13.1
199
Very low or absent T and NK cell numbers, Normal or increased B cell numbers but low Igs
X linked SCID
200
what is deficient in auto recessive SCID?
``` Adenosine deaminase (ADA) deficiency -\> accumulation of precursors are toxic to lymphocytes. ```
201
mx of auto recessive SCID?
PEG-ADA enzyme replacement therapy
202
how does the IL12-IFNy network usually work?
Infected macrophages produce IL12 -\> IL12 induces T cells to produce IFNy -\> IFNy stimulates macrophages to produce TNF and activates NADPH oxidase.
203
B cell differentiation involves which ligands?
CD40-CD40L interaction
204
site of T cell maturation?
Thymus
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site of B cell maturation?
Bone marrow
206
secondary lymphoid organs?
Spleen, LNs, MALT
207
brutons agammaglobulinaemia mx?
IVIG
208
main cytokine responsible for fibrosis seen in CREST syndrome?
TGF-beta. stimulates collagen production by fibroblasts.
209
rheumatoid arthritis how does it affect the complement pathway?
high CH50. complement factors are acute phase proteins and a high CH50 indicates acute or chronic inflammation.
210
type 2 autoimmune hepatitis- what autoantibody?
anti-LKM-1. anti liver/ kidney microsomal-1 antibody
211
what three sites are classically affected in hereditary angio-oedema?
upper airway, subcutaneous tissues and abdo organs (diarrhoea/ abdo pain).
212
magnesium deficiency can lead to hypo....?
hypoCa, hypoK, hypoPTH
213
before a transplant, what medication would you give to induce the patient?
suppress T cell response e.g. anti-CD25 Basiliximub or anti-CD52 Alemtuzumab or OKT3 (muromonab)/ Anti-thymocyte globulin
214
calcineurin inhibitor with side effects of nephrotoxicity, neurotoxicity, HTN, dysmorphic features and gum hypertrophy
cyclosporin
215
calcineurin inhibitor with side effects of nephrotoxicity, neurotoxicity, HTN and is diabetogenic
tacrolimus
216
what are calcineurin inhibitors indicated in?
transplant rejection prophylaxis by reducing T cell activation and proliferation
217
calcineurin inhibitors?
tacrolimus and cyclosporin calcineurin normally activates IL-2. -\> calcineurin inhibitors reduce T cell activation and proliferation
218
what is the most sensitive specific in pernicious anaemia?
anti parietal cells antibody
219
mixed connective tissue disease antibody?
anti-U1RNP antibody (speckled pattern)
220
presentation of hereditary angioedema?
attacks may be precipitated by alcohol, exercise, stress recurrent angioedema but urticaria + not itchy: skin oropharynx -\> asphyxia (laryngeal oedema) GIT - nausea, vomiting, diarrhoea, abdo pain +ve Family history Normal C1/3 but low C2 and C4
221
Hereditary angioedema aka?
C1 esterase deficiency
222
Diagnosis of Hereditary angioedema?
C1 inhibitor - quantitatively low in type 1 (85%) C1 inhibitor - functionally deficient in type 1 (15%) C4 (low)
223
features of infections in immune deficiency?
2 major or 1 major + recurrent minor infections in 1 year unusual organisms unusual sites unresponsive to oral abx chronic infections early structural damage
224
May be history of anxiety 'lump in the throat' Symptoms are often intermittent and relieved by swallowing Swallowing of saliva is often more difficult. Usually painless - the presence of pain should warrant further investigation for organic causes
Globus pharyngis (also known as globus hystericus)
225
liver impairment is possible due to statins. How often should LFTs be measured?
at baseline, 3 months and 12 months tx should be discontinued if serum transaminase conc rise to and persist at 3x the Upper limit
226
The whole colon, without skip lesions, is affected by an irregular mucosa with loss of normal haustral markings. ulcerative colitis Barium enema shows: loss of haustrations superficial ulceration, 'pseudopolyps' long standing disease: colon is narrow and short -'lead pipe colon'
227
what does barium enema of Ulcerative colitis show?
loss of haustrations superficial ulceration, 'pseudopolyps' long standing disease: colon is narrow and short -'lead pipe colon'
228
apart from antibiotics, what medications increases risk of c difficile infection?
PPI e.g. omeprazole
229
1st line long term mx of TIA?
Clopidogrel 75 mg daily 2nd: aspirin + modified release dipyridamole if C not tolerated aspirin if both C and D not tolerated modified release dipyridamole if C and A not tolerated
230
immediate antithrombotic tx in TIA?
aspirin 300mg unless 1. pt has a bleeding disorder/ taking anticoag -\> immediate admission for imaging to exclude haemorrhage 2. pt alr taking low dose aspirin -\> cont dose until reviewed by specialist 3. aspirin contraindicated
231
which anti emetic is contraindicated in Parkinson's disease?
Metoclopramide - dopamine antagonist used for nausea, GORD SE: oculogyric crisis, hyperprolactinaemia, tardive dyskinesia, parkinsonism
232
depigmented Ash leaf spots which flouresce under UV light Tuberous Sclerosis
233
Shagreen patches: roughed patches of skin over lumbar spine Tuberous sclerosis
234
adenoma sebaceum (angiofibromas): butterfly distribution over nose Tuberous Sclerosis
235
fibromata beneath nails (subungual fibromata) painless, slow-growing tumor seen in the nail apparatus -\> tuberous sclerosis
236
neuro features of tuberous sclerosis?
developmental delay epilepsy (infantile spasms or partial) intellectual impairment
237
Teratogenic features of phenytoin?
assoc w cleft palate and congenital heart disease
238
what AED is assoc w peripheral neuropathy as a side effect?
Phenytoin
239
if pt is symptomatic (ie polyuria/ polydipsia), what else do you need to diagnose pt w Diabetes Mellitus?
fasting glucose greater than or equal to 7.0 mmol/l (or HbA1c \>48mmol) random glucose greater than or equal to 11.1 mmol/l (or after 75g oral glucose tolerance test)
240
what investigation would be most useful initially to differentiate between irritable bowel syndrome (IBS) and inflammatory bowel disease (IBD) in primary care?
Faecal calprotectin released in the bowel in the presence of inflammation A positive result does not indicate definite IBD but patients should be referred on to secondary care for further investigation.
241
Ix that should be done for IBS?
FBC, ESR, CRP and coeliac screen (TTG)
242
Treatment of asymptomatic hyperuricaemia?
none just conservative Lifestyle changes (less red meat, alcohol and sugar) can reduce uric acid levels
243
Ix of Lyme Disease?
Lyme disease can be diagnosed clinically if erythema migrans is present ## Footnote enzyme-linked immunosorbent assay (ELISA) antibodies to Borrelia burgdorferi are the first-line test if this test is positive or equivocal then an immunoblot test for Lyme disease should be done
244
Mx of disseminated Lyme disease?
ceftriaxone
245
1st line drug in mx of ocular myasthenia gravis?
Pyridostigmine (anticholinesterase) +/- prednisolone
246
alternative mx of wilson's disease?
trientine hydrochloride is an alternative chelating agent which may become first-line treatment in the future
247
young person w liver and neurological disease?
Wilsons disease liver: hepatitis, cirrhosis neurological: basal ganglia degeneration, speech, behavioural and psychiatric problems are often the first manifestations. Also: asterixis, chorea, dementia
248
tx of choice for smoking cessation in pregnancy? if smoking cessation without nicotine replacement fails.
nicotine replacement patch varenicline and bupropion are contraindicated
249
what is TIBC measuring?
TIBC is a measure of available binding sites on transferrin. If there is a lot of iron, these sites are taken up so there is less capacity to bind more, hence TIBC is low in iron overload. TIBC high in Fe deficiency
250
Ix to screen for haemochromatosis?
general population: transferrin saturation is considered the most useful marker. ## Footnote testing family members: genetic testing for HFE mutation
251
joint xrays in Haemochromatosis characteristically show?
chondrocalcinosis
252
features of Orf?
Orf is a viral skin disease spready to humans by handling infected sheep and goats e.g. farmers, sheep shearers, vets - caused by a parapoxvirus small, red, itchy or painful lump (lesion) that usually appears on the fingers, hands, forearms or face after an incubation period of 3 to 5 days lesion -\> pustule or blister + fever, fatigue, LNpathy
253
Calcaneal Spur on XR -\> common in plantar fasciitis
254
If QRISK score is high (\>10%), what tx?
Statins indicated
255
Posterior vs anterior hip dislocation?
90% of hip dislocations are **posterior** posterior: limb flexed, adducted, internally rotated (may be assoc w sciatic n palsy) Anterior: limb externally rotated w mild flexion and abduction
256
1st Ix of pancreatic cancer?
Abdo US
257
what abx medication may cause yellow skin?
Co-amoxiclav -\> may cause cholestatic jaundice
258
what medication is associated with seeing yellow tinge around lights?
Digoxin assoc w xanthopsia (yellow tinge on white objects)
259
Mx of stable angina?
GTN sublingual for rapid relief of symptoms 1st line regular tx: BB (bisoprolol, atenolol) or CCB (verapamil)
260
most likely histological type of renal cell cancer?
clear cell
261
airway mx of choice if GCS\<8?
cuffed endotracheal tube
262
teratoma/ germ cell tumours tumour markerS?
AFP BHCG
263
what muscle group is overused in medial vs lateral epicondylitis?
medial: flexor compartment lateral: extensor compartment
264
what is sildenafil?
used to treat erectile dysfunction and pulmonary hypertension MOA: phosphodiesterase (PDE5) inhibitor
265
what vein is compressed in Budd-Chiari?
Hepatic vein thrombosis e.g. Polycythaemia Rubra vera, Pregnancy / compression
266
what nerve is affected in herpes zoster ophthalmicus?
Trigeminal nerve V1 - ophthalmic branch
267
e.g.s of non sedating antihistamines?
cetirizine
268
features of typical angina?
1. constricting discomfort in the front of the chest, or in the neck, shoulders, jaw or arms 2. precipitated by physical exertion 3. relieved by rest or GTN in ~5 minutes all 3= typical angina 2 = atypical angina 0/1 = non anginal chest pain
269
Ix of Stable Angina?
1st line: CT coronary angio 2nd: Non-invasive functional imaging - MPS (myocardial perfusion scintigraphy) w SPECT - stress echo - MR imaging 3rd line: invasive coronary angio
270
High CK and K after giving Abx what abx? what condition?
trimethoprim in CKD
271
Young pt on chemo, which drug may cause heart failure?
Doxorubicin
272
worldwide commonest cause of IDA?
Hookworm infection
273
Mx of SIADH?
fluid restrict
274
mx of acute exacerbation of COPD who does not require admission?
1. Increase doses/ freq of use of SABA 2. oral corticosteroids 30mg OD 7-14d if SOB interferes w daily activities 3. Oral Abx: amoxicillin, or doxycycline or clarithromycin
275
abx for acute pyelonephritis?
1st line: cefalexin, or co-amoxiclav or trimpethoprim or cipro if pregnant: cefalexin
276
what is Caplan's syndrome?
rheumatoid arthritis, pneumoconiosis and pulmonary rheumatoid nodules
277
Anion gap formula?
Na+ + K+- Cl- -HCO3- usually 10-18
278
DKA insulin therapy?
fixed rate insulin infusion (0.1u/kg/h) + continue long acting insulin
279
Mx of Orthostatic hypotension?
education and lifestyle measures such as adequate hydration and salt intake discontinuation of vasoactive drugs e.g. nitrates, antihypertensives, neuroleptic agents or dopaminergic drugs if symptoms persist, consider compression garments, fludrocortisone, midodrine, counter-pressure manoeuvres, and head-up tilt sleeping
280
features of acute liver failure?
hepatic encephalopathy + jaundice + coagulopathy (raised PT time) + hypoalbuminaemia renal failure common (hepatorenal syndrome)
281
features of Kartagener's syndrome?
aka primary ciliary dyskinesia - \> immotile cilia - dextrocardia or complete situs inversus - bronchiectasis - recurrent sinusitis - subfertility (secondary to diminshed sperm motility and defective ciliary action in fallopian tubes)
282
What type of malignancy is most assoc w Acanthosis nigricans?
GI carcinoma
283
How much morphine to prescribe a palliative care patient?
to begin: opioid-naive pts can be started on oral morphine, 5-10mg every 4 h. Once a 24h requirement is established: dose can be given as modified release preparation in 2 divided doses + 1/6 of total daily morphine dose should be given PRN for breakthrough pain ie. if pt needs 60mg, give 30mg of modified release morphine BD + 10mg total daily dose of morphine for breakthrough pain
284
mx of dermatitis herpetiformis in coeliac?
tx underlying cause- gluten free food dapsone can reduce symptoms of itching
285
mx of pyoderma gangrenosum?
high dose oral prednisolone which are gradually redeuced as lesions heal + application of non-adherent dressings
286
Mx of Lyme Disease assoc w cardiac or neurological complications?
IV ceftriaxone or cefotaxime
287
1st line ix for Lyme Disease?
ELISA antibodies to Borrelia burgdoferi
288
what are the preferred opioids in patients with chronic kidney disease.?
Alfentanil, buprenorphine and fentanyl
289
Mx of cerebral abscess caused by streptococcal or anaerobic infections?
IV cefuroxime and metronidazole
290
Mx of Cerebral abscess caused by staphylococcal infection?
IV flucloxacillin with cefuroxime
291
what NOAC is most preferred in pts with CKD?
Apixaban
292
What is the single most important factor in determining whether cryoprecipitate should be given?
low fibrinogen level
293
294
features of legionella?
dry cough relative bradycardia lymphopenia hypoNa deranged LFTs pleural effusion
295
HAART usually involvs?
2 NRTIs + protease inhibitor or NNRTI
296
e.g.s of entry inhibitors CCR5 receptor antagonists?
maraviroc, enfuvirtide prevent HIV-1 from entering and infecting immune cells by blocking CCR5 cell-surface receptor
297
e.g.s of Nucleoside reverse transcriptase inhibitors?
Zidovudine, Abacavir, Lamivudine, Emtricitabine, Tenofovir
298
e.g.s of NNRTIs?
efavirenz, nevirapine
299
e.g.s of protease inhibitors?
-navir indinavir, ritonavir
300
e.g. of integrase inhibitors
-gravir Raltegravir, dolutegravir
301
maintenance fluid requirements for adults based on weight?
25-30ml / kg/ day of water ie. 80kg patient - 2L of water
302
fluid requirements of children?
100mL / 24 hr/ kg (0-10kg) then 50 mL/24h /kg (11-20 kg) then 20 mL per kg after
303
1st line tx in MODY
HNF1A type Sulphonylureas e.g. gliclazides
304
urea breath test - what may decrease the accuracy?
No abx in past 4 wks no PPIs in past 2 wks
305
preferred method of acces for haemodialysis?
AV fistulas
306
VTE prophylaxis after elective hip replacement?
LMWH for 28d or LMWH for 10d then aspirin for 28d or Rivaroxaban
307
VTE prophylaxis after elective knee surgery?
LMWH for 14d or Aspirin for 14 d or Rivaroxaban
308
VTE prophylaxis for fragility fractures of the pelvis, hip and proximal femur?
LMWH or fondaparinux continue until pt no longer has significantly reduced mobility
309
SEs of hydroxychloroquine?
bulls eye retinopathy- may result in severe and permanent visual loss -\> baseline opthal examination + monitor annually
310
allergy to sulfasalazine may also mean allergy to??
aspirin or sulphonamides
311
abx prophylaxis for meningococcal meningitis?
oral ciprofloxacin
312
terminal cancer, pt suffering from bowel colic?
add hyoscine butylbromide to syringe driver
313
terminal ca- what to add to syringe driver to reduce resp secretions?
hyoscine hydrobromide
314
mx of intractable hiccups in palliative care??
chlorpromazine or haloperidol/ gabapentin
315
features of anticholinergic symptoms?
Blind as a bat (dilated pupils) Red as a beet (vasodilation/flushing) Hot as a hare (hyperthermia) Dry as a bone (dry skin) Mad as a hatter (hallucinations/agitation) "Bloated as a toad"; ileus, urinary retention And the heart runs alone (tachycardia)

Medicine (16 decks)

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