Self assessments Flashcards
1
Q
The presence of right ventricular dilatation and thinning combined with arrhythmias in a young man should automatically raise the suspicion of
A
arrhythmogenic right ventricular cardiomyopathy
2
Q
Inheritance of arrhythmogenic right ventricular cardiomyopathy
A
autosomal dominant inheritance pattern
3
Q
Complication of arrhythmogenic right ventricular cardiomyopathy
A
sudden death
4
Q
Which condition is described: myocardium shows replacement by fibro-adipose tissue predominantly but not exclusively affecting the right ventricle?
A
arrhythmogenic right ventricular cardiomyopathy
5
Q
Which part of the heart does Hypertrophic obstructive cardiomyopathy effect?
A
Left ventricle
6
Q
Asymmetric hypertrophy of the septum is characteristic of…
A
Hypertrophic obstructive cardiomyopathy
7
Q
Dilated cardiomyopathy primarily affects….
A
the left ventricle
8
Q
tendon xanthomata on both Achilles tendons
A
pathognomonic of Familial hypercholesterolaemia
9
Q
Underlying defect in FH
A
Mutation in the LDL receptor
10
Q
Genotype associated with Familial dysbetalipoproteinaemia and lipid levels in blood.
A
Apo E2/E2 genotype is associated with Familial dysbetalipoproteinaemia (cholesterol and triglycerides elevated)
11
Q
Increased hepatic synthesis of VLDL occurs in
A
Familial Hypertriglyceridaemia and causes predominantly increased triglycerides
12
Q
Causes of Familial Chylomicronaemia
A
Lipoprotein lipase deficiency and Apo C-II deficiency ( associated with predominantly raised triglycerides)
13
Q
Weight loss in a water deprivation test (due to water loss) is consistent with
A
diabetes insipidous
14
Q
What normally happens to the osmolality of urine in response to water deprivation?
A
Increases (gets more concentrated)
15
Q
A 35-year-old surgeon has a red, scaly itchy rash on both hands. The rash improves when he changes the type of glove he wears when operating. He has no history of asthma, rhinitis or eczema and is generally in good health. His only known allergy is to kiwi fruit. What is the most likely diagnosis of the rash?
A
Allergic contact dermatitis
There is cross-reactivity between latex and a number of foods including bananas, avocado and kiwi fruit.
16
Q
popliteal and/or antecubital fossae rash
A
Atopic allergic eczema
17
Q
What’s the optimum treatment for anaphylaxis?
A
Lie flat and give Intramuscular epinephrine (adrenaline)
Corticosteroids have a role in reducing the possibility of a late reaction occurring.
18
Q
Which chemical mediator form pain?
A
Prostaglandin and bradykinin
19
Q
Signs of inflammation
A
calor (warmth)
rubor (erythema)
tumour (swelling)
dolor (pain)
20
Q
Common causes of raised triglycerides
A
Obesity
Excessive alcohol intake
Hypothyroidism (predominantly raised LDL and total cholesterol but triglycerides can also be raised)
21
Q
Cholestasis lipid profile
A
raised LDL and total cholesterol but triglycerides are usually normal
22
Q
Lipid profile of Familial Hypercholesterolaemia
A
high plasma total cholesterol and LDL concentrations
23
Q
A 49-year-old female presents with joint and muscle pains lasting for a few weeks and general malaise. On examination she is found to be hypertensive and to have peripheral sensory and motor neuropathy. Further investigation reveal areas of renal infarction. Nerve biopsy demonstrates transmural inflammation of medium sized arteries with fibrinoid necrosis and frequent neutrophil polymorphs. Which of the following findings is most likely in this patient?
A
polyarteritis nodosa (PAN)
24
Q
What is polyarteritis nodosa (PAN) associate with?
A
(approximately 30%) may be associated with infection with Hepatitis B
25
What size vessels does PAN affect?
medium-sized vessels
26
Examples of ANCA positive small vessel vasculitides
microscopic polyangiitis – p (MPO) ANCA
Wegeners granulomatosis or Granulomatosis with polyangiitis – c (PR3) ANCA
Churg-Strauss syndrome – p (MPO) ANCA
27
Vasculitis associated with Hep C
Cryoglobulinaemic vasculitis
28
A 75-year-old retired teacher is found to have mild to moderate pancytopenia, with a mild macrocytosis (large red cells). His general practitioner checks his vitamin B12 and folate, liver function and thyroid function, but finds no abnormality. The patient is on no medications and is teetotal. A bone marrow sample shows hypercellularity and abnormal maturation of red cell and granulocyte precursors, but no excess of blasts. What is the most likely diagnosis?
Myelodysplasia
29
What can myelodysplasia progress to?
acute myeloid leukaemia
30
A 6-year-old girl is taken to see her general practitioner because her mother is concerned about her almost continuously scratching the skin in her antecubital and popliteal fossae. There are numerous excoriations at these sites with some superficial secondary infection. She is otherwise very well. Both her parents have severe hayfever during the summer. What is the most likely diagnosis?
Atopic allergic eczema
31
Gluten sensitivity skin rash
dermatitis herpetiformis
32
Areas of skin affected by dermatitis herpetiformis
skin overlying extensor surfaces of joints
33
Sites that scabies affects
web spaces between the fingers and toes, palms and soles, wrists and axillae
34
A 48-year-old engineer has an eight month history of worsening fatigue, malaise, fevers and splenomegaly. A blood count shows a mild anaemia and markedly elevated white cell count (120 x10^9/l), comprising an excess of mature and maturing myeloid granulocytes. What is the most suitable next investigation?
PCR for the BCR-ABL fusion gene
or FISH for the BCR-ABL fusion gene
or cytogenetic analysis for the Philadelphia chromosome
35
CML chromosome abnormality
t(9;22) BCR-ABL philadelphia chromosome
36
Upper limit of white cell count in reactive neutrophilias
rarely exceed 30 x10^9/L
37
Antibiotics that have anti-pseudomonal activity
- piperacillin-tazobactam (Tazocin®)
- certain cephalosporins (e.g ceftazidime but not cefotaxime)
- some carbapenems (e.g. meropenem, but not ertapenem)
- aminoglycosides (e.g. gentamicin)
- quinolones (e.g. ciprofloxacin).
38
Can co-amoxiclav be used against pseudomonas?
No
39
Metronidazole activity
anaerobic bacteria (and some protozoa, e.g. Giardia lamblia)
40
When can vancomycin be used?
Vancomycin (a glycopeptide antibiotic) is active against the cell wall of most Gram positive bacteria, but its large molecular size prevents it penetrating the outer membrane of Gram negative organisms - against which it is almost universally inactive.
41
What causes the majority of mitral stenosis?
rheumatic heart disease
42
Most common cause for aortic stenosis
‘senile calcific aortic stenosis’
43
Risk factor for right-sided valve disease?
IV drug use
44
A 47 year old woman attends her GP with a short history of malaise, and mouth ulcers.
The GP notices some petechiae on her arms and legs, and a small blood blister in her mouth. She has a fever of 38.1C, and some crackles at the left lung base.
A blood count performed on a 'point-of-care' instrument in the GP surgery shows pancytopenia. Her neutrophil count is 0.2 x10^9/l.
What is the most appropriate course of action?
Immediate referral to hospital for admission and intravenous broad spectrum antibiotics
However, her treatment pathway is clear: febrile neutropenia is a medical emergency, and patients can deteriorate rapidly in the absence of appropriate treatment. She should be admitted to hospital for immediate broad spectrum antibiotics (e.g. tazocin). Further investigation can proceed as an inpatient.
45
Clinical features of neonatal meningitis
Clinical features of infection are often very non-specific in neonates, and focal signs of infection (e.g. signs of meningeal irritation in meningitis) are often absent. Clinical assessment therefore often depends heavily on the results of laboratory and other investigations.
46
Causes of neonatal meningitis
Group B streptococci and enterococci
47
Who does meningococcus affect?
Neisseria meningitidis (meningococcus) are Gram negative cocci; meningococcal meningitis usually occurs in older children.
48
A 69 year old man is being investigated for splenomegaly. He has a mild anaemia, a normal white cell count, and a normal platelet count. His blood film, however, is highliy abnormal, being reported as showing:
"Variation in red cell size and shape, with frequent teardrop poikilocytes, and some nucleated red cells. Some immature granulocytes are seen, but there is no significant blast population."
A Calreticulin gene mutation is detected by PCR.
What is the most likely diagnosis?
Myelofibrosis
49
Cell of origin of myelofibrosis?
Megakaryocyte precursor
50
Classic picture of myelofibrosis
anaemia and splenomegaly - and the spleen can become massively enlarged.
Teardrop poikilocytes are red cells which are distorted into a teardrop shape; they are often seen when the normal architecture of the marrow is disrupted by fibrosis, or metastatic disease
51
The combination of immature granulocytes plus nucleated red cells in the peripheral blood is known as
a 'leucoerythoblastic film'
52
A 'leucoerythoblastic film' occurs in the context of...
marrow infiltration, fibrosis or, very severe sepsis - any situation where the marrow is attempting to respond to great stress
53
Mutations associated with myelofibrosis
JAK2 (58%)
CALR (calreticulin) (25%)
MPL (7%)
54
T cell response time course
Days
55
acute symptoms in the morning and evening are typical of...
Mast cell triggering by allergen (probably grass pollen first thing in the morning and early evening and house dust mite during the night) cross-linking mast cell bound IgE with immediate release of mediators such as histamine.
56
What type of vaccine is the pneumococcal vaccine included in the current UK childhood immunisation programme?
Polysaccharide conjugate vaccine
57
A 20 year old man is admitted to hospital with unwell with a fever. He is tachycardic and hypotensive, and resuscitation with fluids is commenced pending further investigations. Shortly after admission his conscious level falls and he becomes unresponsive. An urgent cranial CT shows an intracerebral haemorrhage. A blood count gives the following results:
Hb 76 g/L, WBC 0.5x10^9/L, and platelets 43 x10^9/L. A blood film shows a population of myeloid blasts with very heavy granulation. Coagulation studies suggest disseminated intravascular coagulation
Which of the following most accurately describes his disease?.
Acute promyelocytic leukaemia
This disease arises due to a translocation between chromosomes 15 and 17 and produces the fusion gene PML-RARA. This results in failure of maturation at a specific stage of myeloid development - the promyelocyte. The heavy granulation is characteristic of this. These granules contain procoagulant materials and their release can cause disseminated intravascular coagulation (DIC - of which more later in the course). This in turn can result in catastrophic bleeding in the presentation of these patients.
58
Immediate hypersensitivity is tested using
Skin prick test
59
What's an Arthus reaction?
intradermal injection of an antigen takes hours to develop
60
What's the Mantoux test?
test for reaction to tuberculin is a delayed hypersensitivity reaction mediated by T cells and macrophages and takes several (2-7) days to evolve
61
What's pathergy?
The presence of pathergy (test for Behcet's disease) would manifest as a pustule at both the test and negative control sites.
Pathergy is a skin condition in which a minor trauma such as a bump or bruise leads to the development of skin lesions or ulcers that may be resistant to healing. Pathergy can also lead to ulcerations at the site of surgical incisions. Pathergy was seen with both Behçet's disease and pyoderma gangrenosum.
62
What's Behcet's disease?
Behçet's disease (BD) is a type of inflammatory disorder which affects multiple parts of the body. The most common symptoms include painful mouth sores, genital sores, inflammation of parts of the eye, and arthritis
63
A 17 year old man has a history of frequent, severe respiratory tract infections since childhood. He also suffers from malabsorption with steatorrhoea. His lungs have bronchiectasis. Which diagnosis is most likely to explain all his symptoms?
Cystic fibrosis
64
A 21-year-old woman is admitted to hospital complaining of tingling in her fingers and toes. She is due to sit her University Final exams and has recently been suffering from attacks of anxiety. Arterial blood gas analysis shows:
pH 7.53 (reference interval 7.35-7.45);
pCO2 3.5 kPa (4.5-6 kPa);
HCO3- 25 mmol/L (24-30 mmol/L).
What is the most likely diagnosis?
Hyperventilation
65
What causes tingling in hyperventilation?
The tingling is due to reduced ionised calcium concentration, secondary to the alkalosis.
66
Clinical investigation for a PE?
CT pulmonary angiography (CTPA)
67
A 35-year-old man presents with persistently raised blood pressure. His general practitioner has tried several anti-hypertensive agents but there has been no improvement. Arterial blood gases show metabolic alkalosis and hypokalaemia. What is the most likely diagnosis?
Primary hyperaldosteronism
68
Primary hyperaldosteronism is also known as....
Conn’s syndrome
69
What causes hypertension but does not alter the acid/base balance?
Acromegaly
70
Likely blood gas in renal failure
metabolic acidosis
71
How would you test for influenza viruses?
Throat swab for immunofluorescence
Influenza viruses infect the upper and lower respiratory tract, from which they may be isolated by throat swab or nasopharyngeal aspirate (NPA). Cells from the throat swab or NPA are then ‘spotted’ onto a slide and stained with fluorescein-labelled monoclonal antibodies against influenza. The virus is detected by direct visualization using a fluorescence microscope.
72
Latex agglutination is used to detect....
pathogen specific antibodies (usually in serum) by observing whether they agglutinate latex particles coated with pathogen specific antigens.
73
Word meaning that a bacteria can be acquired from animals
ornithosis
74
Chlamydophila psittaci is associated with...
birds
75
Treatment for Chlamydophila psittaci
doxycycline
76
Examples of non-zoonotic causes of atypical pneumonia in humans and the treatment
Legionella pneumophila
Mycoplasma pneumoniae
Chlamydophila pneumonia
macrolide
77
Pneumocystis jiroveci is associated with...
HIV
78
A 25 year old student presents with malaise and a fever. He is found to be pancytopenic, though occasional large very primitve looking cells are seen on his blood film. A bone marrow shows that 35% pf the nucleated cells in his marrow are blasts, some of which contain sparse granules. What is the mostly likely diagnosis?
Acute myeloid leukaemia
That these blasts are granulated suggests acute myeloid leukaemia, though immunophenotyping could be used to clarify this if there is doubt. Remember that chronic myeloid leukaemia is one of the myeloproliferative neoplasms and would present with an excess of mature and maturing myeloid cells - not the pancytopenia seen here.
79
Diagnostic criterion for acute leukaemia
>20% blasts in the bone marrow
80
A 54-year-old female presents with symptoms of right-sided pneumonia and unintentional weight loss. She also has a history of recurrent pleural effusions. She has never smoked. Chest X-ray reveals a 4 cm irregular peripheral mass abutting the pleural surface. Fluid aspirated from the right pleural cavity shows numerous highly pleomorphic cells some of which contain intra-cytoplasmic mucin. The cells are positive for epithelial markers on immunohistochemistry.
What is the most likely diagnosis?
Adenocarcinoma
81
What's the most common lung carcinoma in non-smokers?
Adenocarcinoma
82
Lung cancer associated with EGFR activating mutations? What can you treat with?
adenocarcinomas
EGFR tyrosine kinase inhibitors, such as gefitinib or erlotinib
83
Where are squamous cell carcinomas usually positioned?
central
84
Squamous cell carcinomas are associated with.....
Smoking and thought to arise from areas of squamous metaplasia.
85
Where do small cell carcinomas usually arise?
hilar bronchus
86
What are lung hamartomas and how are they diagnosed?
Lung hamartoma is a relatively common benign lesion, which is usually discovered as an incidental rounded and well circumscribed focus on routine chest X-ray (coin lesion). The majority are peripheral, solitary and less than 3 cm in diameter.
87
CURB65. What's it used for and what are the criteria?
Risk of death at 30 days of patients with CAP
```
Confusion
Urea >7 mmol/l
Respiratory rate >30/min
Blood pressure (systolic BP<90 or diastolic BP≤60 mmHg)
Age ≥65 years
```
88
A 73-year-old former shipyard pipe fitter presents with a 3 year history of progressive shortness of breath. His lung function tests show a restrictive picture. He eventually dies of respiratory failure. What are the likely postmortem finding in his lungs?
Honeycomb lung with scattered asbestos fibres
89
Which lung condition is associated with Extensive fibrosis with centrilobular emphysema?
coalworker’s pneumoconiosis in addition to coal macules
90
Which lung condition is associated with Fibrotic nodules with refractile particles?
silicosis
91
Which lung condition is associated with Panlobular emphysema with lower lobe predominance
alpha-1 antitrypsin deficiency
92
Which phase of anaphylaxis are eosinophils associated with?
delayed phase
93
Time course for T cell immune reactions
Days rather than minutes
94
What's the most common cause of a serious respiratory illness in infancy?
Bronchiolitis
95
Pathogenesis of bronchiolitis
Inflammation of the narrow bronchioles in these children leads to partial blockage and thereby distal collapse or hyperinflation of lung tissue.
96
Most common cause of child bronchiolitis
~80% cases the cause is respiratory syncytiovirus (RSV), and the diagnosis can be confirmed by detection of RSV in nasopharyngeal aspirates by immunofluorescence, ELISA, or PCR
97
Causes of bronchiolitis
RSV
human metapneumovirus
parainfluenza viruses
human bocavirus
98
"Bronchial walls show basement membrane thickening with smooth muscle hypertrophy and the presence of numerous eosinophils." What is the most likely diagnosis?
Acute allergic asthma
99
'diffuse alveolar damage with hyaline membrane formation' is characteristic of....
adult respiratory distress syndrome
100
A 24-year-old man who is otherwise in good health has a red, itchy, scaly rash affecting both hands. He works as a builder. The rash cleared up when he was away on a 4 week holiday but re-occurred on returning to work. He underwent skin testing to help identify the cause of his problem. When would be the optimal time to read the test?
2 to 7 days after the start of the test
This man probably has allergic contact dermatitis (chromates in cement are a not uncommon cause). Thus the skin test employed is most likely to be patch testing, a form of delayed hypersensitivity skin test. A solution of test antigen is applied as a 'patch' to the skin surface (usually on the back) along with a negative control. The test is usually read between 2 and 7 days later when a positive reaction would manifest as a patch of dermatitis at the site of application of the antigen.
101
How long should you wait for a Heaf or Mantoux test?
2-7 days
102
How does the IGRA work?
The interferon gamma release assay (IGRA) works by looking for a specific T-cell response to antigens from M. tuberculosis: T-cells that have previously been exposed to the antigens respond by releasing interferon gamma which can be measured by an ELISA (there are 2 commercial assays available; one uses a standard ELISA, the other an ELISPOT - essentially a modified ELISA in which the ‘footprint’ of individual interferon gamma secreting T-cells can be visualized as dots under the microscope). The IGRA is thus a test for TB infection, but cannot distinguish latent TB infection (LTBI) from active TB disease.
103
How should you treat latent TB
The most common regimen for LTBI treatment is isoniazid monotherapy for 6 months (an alternative is a combination of isoniazid plus rifampicin for 3 months).
104
Blood gas and anion gap for renal tubular acidosis
metabolic acidosis but with normal anion gap
105
How can you biopsy for peripherial lung masses?
a percutaneous (through the skin) needle biopsy approach is most likely to yield a diagnosis
This procedure is typically performed under CT guidance in order to ensure that the lesion is not missed.
106
A 21-year-old student presents with jaundice. He had recently recovered from an attack of influenza. He is not taking any medications and denies recreational drug use. Laboratory results show:
Plasma bilirubin 45 micromol/L (3-17 micromol/L);
Alanine transaminase 35 IU/L (10-45 IU/L);
Alkaline phosphatase 100 IU/L (80-250);
Urine bilirubin negative.
What's the diagnosis?
Gilbert’s syndrome
107
The most likely cause in a patient with isolated hyperbilirubinaemia is....
Gilbert’s syndrome
108
Pathology of Gilbert's syndrome
a defect in function of the enzyme bilirubin UDP-glucuronosyltransferase
109
Presentation of Crigler-Najjar syndrome
early life with a severe unconjugated hyperbilirubinaemia
110
Presentation of Dubin-Johnson and Rotor syndromes
conjugated hyperbilirubinaemia and bilirubin is detected in the urine
111
What's Wilson's diseas?
A cause of chronic liver disease and presents with evidence of abnormal copper deposition in tissues including the liver, eyes, kidneys, heart and parathyroid glands.
112
A 21-year-old woman has a red scaly rash over her face, shoulders and arms, painful swollen hands and feet and has felt feverish at night for the last 2 weeks. Laboratory test results show the following.
Urine analysis: proteinura ++ and microscopic haematuria
Antinuclear antibody: titre 1280 (<40)
Complement C3: 22mg/dL (65-190)
Complement C4: 6mg/dL (15-50)
What immunopathological mechanism most likely underlies her skin rash? And what is the diagnosis?
Immune complex deposition in the basement membrane
SLE
113
IgG antibodies interacting with skin basement membrane is characteristic of....
pemphigoid
114
Increased deposition of extracellular matrix in the dermis is consistent with
scleroderma
115
A 31-year-old female has intermittent cramping abdominal pain and low volume diarrhoea for several months. On examination she has mouth ulcers, her lower abdomen is tender and a perianal fistula is noted. Colonoscopy shows several discontinuous areas with a cobblestone appearance. What's the condition?
Crohns disease
116
Superficial involvement of the bowel wall (predominantly mucosal) extending variable distances from the rectum. The mucosal involvement is diffuse and does not show skip lesions. What's the condition
Ulcerative colitis
117
Who and which areas are affected by ischaemic colitis?
typically affects older patients with risk factors for cardiovascular disease and often involves water-shed areas (e.g. the splenic flexure). Patients may suffer from atrial fibrillation and abdominal aortic aneurysms increasing their risk of thromboembolic events.
118
Which area is most affected by diverticulitis?
Sigmoid colon
119
Antibodies to receptors for thyroid stimulating hormone
Graves disease
120
Why is testing for antibodies to receptors for thyroid stimulating hormone (TSH) very useful in pregnant women with Graves disease?
It predicts the possibility of neonatal thyrotoxicosis due to active transfer of the IgG autoantibody across the placenta.
121
A 45-year-old woman presents with a 7-month history of mild abdominal pain, bloating and episodes of mild diarrhoea. She feels more tired and has noticed a minor degree of weight loss. Abdominal examination is normal. A blood test reveals mild iron deficiency anaemia. Serology is positive for anti-transglutaminase antibodies. A duodenal biopsy shows marked villous atrophy and an increase in intraepithelial lymphocytes. What is the most likely diagnosis?
Coeliac disease
122
A 45-year-old male with a history of intravenous drug abuse some years ago presents with worsening jaundice, ascites and swelling of his ankles over a two-year period. A liver biopsy shows chronic inflammation and fibrous expansion of the portal tracts. Which virus could be responsible for this patient’s illness?
Hepatitis C
123
IV drug use associated with
Hep B, Hep C
124
What type of hepatitis do Hepatitis A, hepatitis E, Epstein Barr virus and cytomegalovirus present with?
acute
125
A 68-year-old man has an eighteen month history of worsening fatigue. He is found to have splenomegaly. A blood count shows a mild anaemia and markedly elevated white cell count, comprising an excess of mature lymphocytes. What is the most suitable next investigation?
Immunophenotyping of peripheral blood
There is a lymphocytosis in the blood, and this could easily be used to assess if there is a clonal problem (are these lymphocytes all T or B cells? If the latter, do they express all kappa light chains, all lambda light chains or a mix?). This can be done with immunophenotyping. Also, certain lymphoproliferative conditions have characteristic patterns of CD marker expression, which can be used to formally make a diagnosis (e.g. CLL).
126
A 59-year-old man has a long history of heartburn and presents with recent onset weight loss and dysphagia. Endoscopy reveals an irregular tumour mass in the lower oesophagus causing obstruction. A biopsy is taken from the mass. What is the most likely diagnosis on microscopy?
Adenocarcinoma
127
What's Barretts oesophagus and where does it occur?
A premalignant condition with an increased risk of progression through dysplasia to adenocarcinoma. It typically affects the lower third of the oesophagus.
128
Where does squamous cell carcinoma occur within the oesophagus and what's the risk factor?
proximally in the oesophagus
| major risk factors are smoking and alcohol
129
What can cause dysphagia and odynophagia in immunosuppressed patients and would show raised white patches with an endoscope?
Candida infection
130
A 64-year-old male presents to his general practitioner with swollen legs, ascites and easy bruising. He has a history of type 2 diabetes, hypertension and hypertriglyceridaemia. His body mass index (BMI) is 31. He has raised liver enzymes and a liver biopsy shows regenerating nodules of hepatocytes surrounded by fibrosis. The hepatocytes also show prominent macrovesicular steatosis.
What is the most likely diagnosis of this man’s liver disease?
Non-alcoholic fatty liver disease
131
Clinical features of liver failure
- oedema (reduced albumin synthesis)
- ascites (reduced albumin)
- secondary hyperaldosteronism
- portal hypertension
- spider naevi
- gynaecomastia (hyperoestrogenism)
- purpura and bleeding (reduced clotting factors)
- coma (lack of elimination of toxic gut bacterial metabolites acting as ‘false neurotransmitters’)
- infection (impaired Kupffer cell function)
- portal hypertension (clinical features include oesophageal varices leading to haematemesis, haemorrhoids, ‘caput Medusae’ and hypersplenism leading to thrombocytopenia)
- increased risk of hepatocellular carcinoma
132
Type 2 diabetes, hypertension, high triglycerides and obesity are consistent with....
metabolic syndrome
133
Genetic diesease leading to increased iron absorption
Primary haemochromatosis
due to HFE gene defects (most commonly C282Y mutation)
134
What does someone with primary haemochromatosis look like?
Apart from the liver other organs may also be involved. Typically, the skin may show bronze discolouration due to raised melanotrophin levels and they may suffer from diabetes (‘bronze diabetes’). They may also suffer from cardiac failure.
135
What is primary biliary cirrhosis and how is it diagnosed?
An autoimmune disease resulting in destruction of the bile duct epithelium particularly of the smaller intrahepatic ducts; there are lymphocytic infiltrates and often also granulomas. Anti-mitochondrial antibodies are present in the serum of more than 90% of patients. Cirrhosis is a late feature.
136
```
A 65-year-old male with a history of unexplained weight loss and recent upper abdominal pain presents with sudden onset jaundice. He has a raised alkaline phosphatase (ALP) and normal AST / ALT. An ultrasound scan shows an ill-defined retroperitoneal mass. Which of the following pathologies would best explain his symptoms and signs?
A. Colorectal adenocarcinoma
B. Hepatocellular carcinoma
C. Pancreatic adenocarcinoma
D. Acute pancreatitis
E. Viral hepatitis
```
Pancreatic adenocarcinoma
137
A 65-year-old man presents with weight loss, diarrhoea and abdominal distension. He has been passing frequent, foul-smelling bowel motions that have been difficult to flush away. He admits to a high alcohol intake over the past 30 years. Blood results show:
Total calcium 2.01 mmol/L (2.12-2.62 mmol/L);
Phosphate 0.65 mmol/L (0.8-1.40 mmol/L);
Fasting glucose 18 mmol/L (<6.1 mmol/L);
Albumin 40 g/L (35-50 g/L).
Abdominal x-ray shows pancreatic calcification.
What is the most likely diagnosis?
Chronic pancreatitis
138
Low calcium and phosphate suggest
vitamin D deficiency
139
Pancreatic calcification indicates...
chronic pancreatitis (excessive alcohol intake is a common cause)
140
Patients with chronic pancreatitis can become....
diabetic
141
What are the dukes stages and which cancer are they used for?
Colorectal cancer
Dukes’ Stage A: tumour limited to wall (muscularis propria), nodes negative
Dukes’ Stage B: tumour beyond muscularis propria, nodes negative
Dukes’ Stage C1: nodes positive, but apical node negative
Dukes’ Stage C2: nodes positive, with apical node positive
(Dukes’ Stage D was not present in the original staging system devised by Cuthbert Dukes in the 1930’s. It was added later on and refers to metastatic disease.)
142
A 67-year-old man presents with a 2 day history of feeling increasing unwell with loss of appetite, followed the previous night by the abrupt onset of right upper quadrant pain, rigors and high fever. He had been diagnosed 3 months previously with cholangiocarcinoma and had a biliary stent inserted a week ago due to blockage of the bile duct by the tumour. He looks unwell, is jaundiced and has warm peripheries. His temperature is 39.4oC, with a pulse of 130 beats/min and blood pressure of 100/40 mmHg. What is the most likely diagnosis?
Ascending cholangitis
143
What is Charcot’s triad and what is it suggestive of?
fever + jaundice + rigors
ascending cholangitis
144
An 85 year old man has a history of chronic lower lumbar back pain. His GP investigates this, requesting a full blood count, renal function, calcium and phosphate, and serum/urine electrophoresis. Of these, all are normal with the exception of a small IgG paraprotein (5 g/L). A plain film of the lumbar spine suggests degenerative change. What condition is likely to explain the paraprotein?
Monoclonal gammopathy of undetermined significance
145
The presence of a small paraprotein without any associated end organ damage suggests
MGUS
146
MGUS can lead to...
multiple myeloma
147
What's Waldenstrom's macroglobulinaemia?
a form of low grade lymphoma characterised by IgM paraprotein
148
A 35-year-old man has an eight hour history of severe upper abdominal pain, which is associated with nausea and vomiting. He has a rapid clinical deterioration with renal and respiratory failure requiring admission to intensive care. Blood tests reveal a lactic acidosis, hypocalcaemia and high serum amylase levels. What is the most likely diagnosis?
Acute pancreatitis
149
What causes hypocalcaemia in acute pancreatitis?
released lipolytic enzymes from the pancreas, which cause fat necrosis in the surrounding fat with free fatty acids sequestering calcium ions
150
A 59 year old man with a six month history of worsening epigastric discomfort undergoes endoscopy. A small lymphoid mass is detected, and biopsy confirms this to be comprised of a clonal population of small, mature B cells. H. pylori infection is also evident. He is otherwise well, with a normal blood count and no other abnormality on examination. What type of lymphoma is this likely to be?
MALT lymphoma
151
Gilbert’s syndrome presents with.....
isolated mildly raised bilirubin during times of stress, starvation, infection or exercise and is a benign condition.
152
A 72 year-old man presents with a three‑month history of weight loss and jaundice. He does not have abdominal pain. Over the last few days, his urine has become dark and his stools pale. On examination, he is jaundiced but abdominal examination is otherwise normal.
Carcinoma of the pancreas
153
A 70 year old woman with chronic lymphocytic leukaemia has been treated on several occasions when she has become anaemic or has developed troublesome lymphadenopathy. On each case, she has has a partial remission of her disease, which, typically for a low grade lymphoproliferative disorder, has gradually relapsed. She now presents with a short history of drenching night sweats, intermittent fevers, and severe malaise. Examination shows some generalised lymphadenopathy and palpable splenomegaly. She tells you these nodes have increased rapidly in size. What has happened?
High grade transformation
Richter's transformation
154
73-year-old male with a history of alcohol abuse is accompanied to hospital by his neighbour who states that he has been increasingly confused over the past week or so. You note that he presented to the emergency department two weeks earlier with a minor occipital scalp injury requiring a few sutures. On examination he appears confused and not orientated in time and space. Neurological examination reveals a left pronator drift. Which of the following is the most likely underlying pathology?
Chronic right subdural haemorrhage
155
Risk factors for chronic subdural haemorrhage
- elderly (cerebral atrophy)
- alcohol abuse (bleeding diathesis due to alcoholic liver disease and may suffer from minor trauma on a frequent basis)
- minor trauma
156
Possible cause for worsening confusion in the elderly
chronic subdural haemorrhage
157
Typical history of an extradural haemorrhage
significant blow to the head which may be followed by a short lucid interval and collapse thereafter
158
Treatment for extradural haemorrhage
evacuation of the clot without delay
159
‘thunderclap’ headache
Subarachnoid haemorrhage
may be associated with nausea, vomiting and signs of meningeal irritation (photophobia, neck stiffness)
160
Anitbiotics that can treat pseudomonas aeruginos
```
Ciprofloxacin
Gentamicin
Ceftazadime
Piperacillin-tazobactam (Tazocin)
Meropenem
```
161
Common cause of otitis media
URTI
strep throat
allergies
162
IgG 2.7 g/L (6 - 13), IgA <0.06 g/L (0.8 - 3.0), IgM 0.1 g/L (0.4 - 2.5);
common variable immunodeficiency
At risk of recurrent bacterial infection of the respiratory tract
163
A 31-year-old mother or two is 20 weeks pregnant with her third child when her 4-year-old son develops chickenpox. She immediately attends her general practitioner concerned about the implications of this for her pregnancy. She cannot recall whether she has had chickenpox in the past, has no current medical problems and feels well. What should you do?
Send an urgent blood sample for Varicella Zoster virus (VZV) antibodies
If the pregnant mother gives a clear history of previous chickenpox she can be assumed to be immune and no further action is required. If she has not previously had chickenpox, or there is any doubt as to whether she has had chickenpox, she should be test for VZV antibodies. This test can usually be performed within 24 hours. If VZV antibodies are present, immunity is confirmed and no further action is required. If antibodies are not present, or if for any reason the test cannot be performed promptly, the pregnant woman should be referred for prophylactic Varicella Zoster Immunoglobulin (VZIG). This is given as an intravenous infusion. It should be administered as soon as possible, although benefit has been demonstrated when it is given up to 10 days after first exposure.
Antiviral treatment is not recommended as primary chemoprophylaxis for exposed pregnant women, and treatment of the woman’s son would not abolish the exposure risk since (a) he will have already been infectious for a few days, and (b) viral treatment does not abolish the infection risk going forwards.
164
What clinical sydromes can Varicella Zoster Virus (VZV) cause?
Initial infection results in chickenpox (Varicella), following which the virus remains dormant (‘latent’) in sensory ganglia. Reactivation of latent virus causes shingles (Zoster), usually in a single dermatome due to reactivation of the virus in the sensory ganglia supplying that dermatome (reactivation in immunocompromised hosts can lead to disseminated zoster syndrome).
165
Risk of VZV infection of a pregnant mother
Pregnant women are particularly vulnerable to potentially life-threatening varicella pneumonia in the second and third trimesters
166
What is congenital varicella syndrome?
Maternal infection during the first 20 weeks of pregnancy also carries a small (<2%) risk of congenital varicella syndrome (e.g. skin scarring, limb hypoplasia, cataracts, growth retardation)
167
A 35-year-old female presents with a five day history of weakness of both legs which developed gradually and now seems to be getting better. Several years ago she recalls an episode of gradual blindness in her right eye which resolved over a period of two weeks. Which pathological process best explains her symptoms?
Demyelination
The history is typical of multiple sclerosis which involves episodes of demyelination separated in space and time. The optic nerves and the spinal cord are commonly involved as are the periventricular regions. The age group and gender of the patient are also characteristic.
168
Nerves commonly involved in MS
optic nerves
spinal cord
periventricular regions
169
TTP blood film
red cell fragments (a microangiopathic haemolytic anaemia)
170
A low twenty four-hour urinary calcium excretion and slightly elevated PTH is characteristic of
familial hypocalciuric hypercalcaemia (FHH)
171
Three most important potential complications of subarachnoid haemorrhage
- re-bleeding of the aneurysm (identified by CT)
- hydrocephalus (identified by CT)
- vasospasm
172
What can be done to prevent vasospasm following SAH in high dependency / intensive care setting?
Supportive ‘triple H’ therapy:
hypertension
hypervolaemia
haemodilution
(maintain patency of the cerebral vessels)
173
Which scan should you use to assess acute brain bleeds?
CT
174
Which scan should be used to image the parenchyma? e.g for tumours or demyelination
MRI
175
A 70-year-old man is seen in the preoperative assessment clinic prior to an elective total knee replacement. The clinic nurse requests a PT and APTT, even though there is no history of bleeding or bruising. The PT is normal, as is the platelet count; but the APTT result is 55 seconds (24-35). She asks for your opinion. Which of the following could be responsible?
```
A. Haemophilia A
B. Haemophilia B
C. Chronic liver disease
D. Warfarin treatment
E. Lupus anticoagulant
```
E
A 70-year-old with no history of bleeding problems is not going to have a new diagnosis of even very mild haemophilia A or B. Also unlikely is chronic liver disease: this causes a coagulopathy through failure of hepatic synthesis of coagulation factors and, since factor VII has the shortest half-life, one would expect an extended PT in liver disease if the APTT was also prolonged. Warfarin treatment likewise would prolong the PT through its impact on factor VII (as well as II, IX and X). This leaves the lupus anticoagulant, which may give a prolonged (and uncorrectable) APTT in the context of a normal PT. Despite its name, its effects in vivo are procoagulant.
176
Classic pentad of features associated with TTP
- thrombocytopenia
- microangiopathic haemolytic anaemia (as manifest by the red cell fragments)
- renal impairment
- fever
- confusion
177
Does DIC have normal clotting times?
No
178
Pathology of TTP
TTP arises when von Willebrand factor cannot be cleaved into functional subunits from the long multimers in which it is formed. This process of cleaving requires the enzyme ADAMTS13; in cases of acquired TTP, there is an auto-antibody formed against this enzyme. Clearance of the enzyme means that VWF remains in long multimers, which sequester platelets and form tiny platelet-rich microthrombi which can block the microvasculature and cause the clinical features of TTP. Transfusing platelets into these thrombocytopenic patients is contraindicated, as it can exacerbate the formation of platelet microthrombi. The management combines immunosuppression with plasma exchange.
179
Which lobe is first affected in alzheimers?
Medial temporal atrophy and hence short term memory impairment
180
scattered beta amyloid plaques and neurofibrillary tangles
Alzheimers
181
A 78-year-old man presents with severe pain in his left thigh. He has also noted recent hearing loss. X-rays show a deformity in the left femur with thickening of the cortex. His plasma calcium and phosphate are normal but alkaline phosphatase is markedly raised. Albumin, bilirubin and alanine transaminase levels are normal. What's the diagnosis?
Paget's disease
182
What's Paget’s disease?
A condition characterized by increased osteoclastic and osteoblastic activity, resulting in formation of disorganized bone.
183
Presentation of Paget's disease
- bone pain
- the only biochemical abnormality is raised alkaline phosphatase activity
- Hearing loss occurs because of auditory nerve compression
- X-rays show a deformity bones with thickening of the cortex
184
Expected calcium, phosphate and PTH levels in osteomalacia
low calcium and low phosphate, along with raised alkaline phosphatase activity
185
Expected calcium, phosphate and PTH levels in primary hyperparathyroidism
high calcium and low phosphate concentrations, along with raised alkaline phosphatase activity
186
Typical presentation of encephalitis
fever and confusion
187
A previously well elderly man is admitted to hospital with a history of fever and worsening confusion over a few days. On admission he is confused and febrile, but there are no other remarkable findings on examination. Chest x-ray and urinalysis are normal. The admitting doctor is concerned he may have intracranial infection and wants to start antimicrobial treatment. What's the initial empiric IV treatment?
Ceftriaxone with ampicillin and aciclovir
188
Most important cause of encephalitis
Viruses
herpes simplex virus (HSV) since this is the only common cause for which specific treatment is available
189
What should you do if you suspect viral encephalitis?
HSV most common, treatment with high dose IV aciclovir should be started as soon as possible. A definitive diagnosis can then be sought using HSV PCR on CSF and looking for typical changes on MRI/CT brain imaging
190
Most common organisms that cause encephalitis in the elderly
- Streptococcus pneumoniae
- Neisseria meningitidis
- Listeria monocytogenes
- Gram negatives (enterobacteraceae).
High dose ceftriaxone penetrates the blood brain barrier well, achieving high levels in CSF, and will cover most of these organisms - with the important exception of Listeria. For this reason ampicillin is added to ceftriaxone for empiric treatment of bacterial meningitis in groups at risk of Listeria meningitis (infants and patients >50 years old).
191
Which brain tumour crosses the corpus callosum?
butterfly glioma
192
Tumour presenting with progressive ataxia
Cerebellum
193
Renal cell carcinomas commonly metastasise to where in the brain?
posterior fossa
194
Progressive one-sided sensorineural hearing loss.
What's the tumour?
vestibular schwannoma
or meningioma
195
History of epileptic seizures over several years
What's the tumour
Low grade glioma
196
When should you wash your hands with soap and water?
- hands are visibly dirty/soiled
- before eating
- after going to the toilet
- after contact with a patient with C. difficile infection (alcohol gel isn't good at killing the spores)
197
Vitamin K dependent clotting factors
II, VII, IX, X
198
Fat soluble vitamins
A, D, E, K
199
What would you expect the PT, APTT, platelet count and fibrinogen to be in DIC
PT Increase
APTT Increased
platelet count low
fibrinogen low
200
A 45-year-old Indian man presents with a one week history of worsening headache and vomiting. An MRI scan of his brain shows a bi-frontal mass lesion, which involves the falx and extends across the corpus callosum together with severe communicating hydrocephalus. A brain biopsy fails and the patient dies. Autopsy examination shows thickened basal meninges, which are slightly nodular. Cut surfaces of the frontal lesion show small areas of friable material reminiscent of caseous necrosis. What is the most likely diagnosis?
Intracranial tuberculosis
201
A nodular basal meningitis (typical distribution) and a mass lesion with possible caseous necrosis in somebody from a high risk country should raise the possibility of....
TB
202
Underlying mechanism of Hashimoto's thyroiditis?
T cell mediated
The presence of autoantibodies to thyroid peroxidase make autoimmune hypothyroidism (also known as Hashimoto's thyroiditis) the most likely diagnosis and the underlying mechanism is destruction of thyroid tissue by autoreactive T lymphocytes.
203
A 71-year-old woman presents with muscle cramps and paraesthesiae. Her only previous medical history was multinodular goitre, treated by thyroidectomy. Venous blood results show:
Calcium 1.45 mmol/L (2.12-2.62 mmol/L)
Albumin 38 g/L (35-50 g/L)
Phosphate 2.72 mmol/L (0.8-1.40 mmol/L)
Alkaline phosphatase 126 IU/L (80-250 IU/L)
What is the most likely diagnosis?
Hypoparathyroidism
204
Test patterns of hypoparathyroidism (calcium, phosphate and ALP)
- low calcium
- high phosphate
- normal alkaline phosphatase
Renal calcium excretion is increased and renal phosphate excretion is reduced, while activation of vitamin D is also reduced.
(PTH stimulates the conversion of 25-hydroxy vitamin D into 1,25-dihydroxy vitamin D (calcitriol), which is released into the circulation)
205
What's the effect of Sarcoidosis on calcium?
hypercalcaemia
206
Vitamin D excess effect on calcium?
hypercalcaemia
207
What does Perioperative mean?
Literally, around (the time of) surgery.
208
What are the characteristics of the nephrotic syndrome?
The triad of proteinuria (>3 g/24hr), hypoalbuminaemia and oedema
209
What would you expect the sodium to be in nephrotic syndrome?
The low sodium is explained by secondary hyperaldosteronism and ADH release due to reduced oncotic pressure in the vascular compartment.
210
Which antibiotics can cause acute kidney injury? And how do patients present?
Aminoglycoside toxicity
Patients present with raised plasma urea and creatinine.
211
What is Primary hyperoxaluria and how does it present?
Primary hyperoxaluria is an inherited disorder which presents with renal stones.
212
A 12-year-old boy has a 7 week history of abdominal pain and diarrhoea. He had recurrent otitis media from about 9 months of age and was admitted to hospital a year ago with atypical pneumonia. Examination of a stool sample reveals cryptosporidium. What defect in host defence most likely accounts for all his clinical problems?
He most likely has defective helper T lymphocyte function. Although antibody deficiency on its own may be associated with ear infections, infection with cryptosporidium (a protozoan), atypical pneumonia as well as infection with intra-cellular bacteria (such as mycobacteria) and recurrent viral infections are usually problems in patients with T lymphocyte deficiency such as HIV infection. Reduced helper T lymphocyte function may have a knock-on effect on antibody responses, thus producing a form of combined immunodeficiency.
213
Which organisms are you at risk of if you have an antibody deficiency?
encapsulated bacteria
214
Which organisms are you at risk of if you have a neutrophil deficiency?
bacterial infection (such as staphylococcus and pseudomonas) and some fungal (aspergillus) infections
215
A 16-year-old boy presents with a ten day history of sore throat, general malaise and cervical lymphadenopathy. His blood count shows a mild lymphocytosis, and the following blood film report is issued: Frequent large atypical lymphocytes of reactive appearance; some apoptotic lymphocytes also seen. Which of the following tests do you think is most likely to yield a diagnosis?
```
A. Lymph node fine needle aspiration
B. Lymph node excision biopsy
C. Monospot test
D. Immunophenotyping of blood
E. Blood cultures
```
C
This history is reasonable for acute Epstein Barr virus (EBV) infection (glandular fever). The blood film findings can be floridly abnormal in glandular fever, with very large, reactive lymphocytes. The monospot test has a very good specificity and good sensitivity for EBV, and is readily performed on a peripheral blood sample. If the monospot test were to yield a negative result, it would be appropriate to observe for spontaneous resolution of the peripheral blood and lymph node abnormalities in the first instance.
216
If a patient is well but presents with a swollen lymph node what should you do?
Give six weeks to resolve before more invasive tests (e.g. lymph node excision biopsy) are arranged.
Clearly if the clinical picture is one of high grade lymphoma, a six week wait will not be possible or advisable.
217
What type of biopsy is suitable to diagnose lymphoma?
Fine needle aspirates of lymph nodes are not recommended for the diagnosis of lymphoma. Consider a patient with Hodgkin lymphoma: the great bulk of the lymph node is reactive/inflammatory with admixed Reed Sternberg cells, and an FNA could well be falsely reassuring. FNAs are useful for other conditions though: thyroid nodules would be a good example.
218
What type of vaccine is Bacillus Calmette-Guerin (BCG)?
Live so contraindicated for immunocompromised.
219
If you suspect HIV in an infant how would you test for it?
The usual test for HIV antibodies will not be reliable in him as a young infant, and thus HIV RNA should be looked for.
220
A 28-year-old female complains of intermittent headache, tachycardia, tremor and anxiety. She is intermittently hypertensive and a CT scan reveals a right adrenal mass. Her brother underwent surgery for a similar mass a few years previously and her older sister has recently been diagnosed with thyroid cancer. What is the likely underlying syndrome?
Multiple endocrine neoplasia, type 2
221
What is a phaeochromocytoma?
A tumour of the adrenal medulla. It causes symptoms due to excess catecholamines
222
10% of phaeochromocytomas are....(4 things)
- malignant
- bilateral
- extra-adrenal
- arise in familial syndromes
223
Familial syndromes that can cause phaeochromocytomas
- multiple endocrine neoplasia (MEN) 2A and MEN 2B
- neurofibromatosis type 1
- von Hippel-Lindau syndrome
224
Conditions associated with MEN 2A
- phaeochromocytoma
- medullary thyroid cancer
- parathyroid hyperplasia
225
Conditions associated with MEN 2B
- phaeochromocytoma
- medullary thyroid cancer
- parathyroid hyperplasia
- mucocutaneous ganglioneuromas
- a marfanoid habitus
226
Conditions associated with MEN 1
3 Ps
- pituitary
- parathyroid
- pancreatic endocrine tumours
227
A 3-year-old boy presents with a limp and is found on full blood count to have pancytopenia but with occasional blasts on the peripheral blood film. What is the most likely diagnosis?
Acute lymphoblastic leukaemia
Acute lymphoblastic leukaemia (ALL) is the commonest malignancy of childhood, and bony pain or a limp are recognised presenting features.
228
Most common childhood leukaemia
ALL
229
A 35-year-old female presents with a palpable right thyroid nodule. Investigation shows normal thyroid stimulating hormone (TSH) and thyroxine concentrations. What is the investigation of choice in this setting which will determine her further management?
Fine needle aspiration (FNA) cytology
The aim is to identify the minority of nodules that may be neoplastic and therefore need to be removed. Ultrasound and iodine uptake scans do not reliably identify potentially neoplastic nodules. FNA is a simple and relatively non-invasive procedure which yields quick results and is performed in an outpatient setting (FNA clinics). It allows identification and categorisation of the cellular component of nodules. Nodules that are potentially neoplastic require excision. (Remember, FNAs are not usually employed if the differential includes lymphoma; they are often less helpful in this setting.)
230
Recurrent infection
IgG 1.5 g/L (6.0-13.0)
IgA <0.06 g/L (0.8-3.0)
IgM 0.1 g/L (0.4-2.5)
Electrophoresis of serum and urine is normal.
CD3 T cells 2.3 x109/L (0.7-1.9)
CD19 B cells <0.01x109/L (0.1-0.4)
What is the most likely diagnosis?
Common variable immunodeficiency
231
Presentation of Bruton's X-linked antibody deficiency
- males
| - early in life
232
Antibody levels in Selective IgA deficiency
IgG and IgM are usually normal
233
What is neutropenic sepsis?
Neutropenia plus evidence of an infection (high fever, rigors, and a raised C-reactive protein)
234
What's the treatment for neutropenic sepsis?
broad spectrum antibiotics
Neutropenia is particularly associated with invasive bacterial infections, but may also be complicated by invasive fungal infections. The risk of fungal infections increases with the duration of neutropenia. Neutropenia is not a risk factor for viral infections since granulocytes are not involved in host responses to viral infections. Instead viral infections tend to complicate conditions in which there is impaired cell mediated immunity, for example after solid organ transplant or in HIV infection.
Early recognition and treatment of neutropenic sepsis with broad spectrum antibiotics (e.g. Tazocin) is essential to minimize the risk of severe morbidity and death.
235
Should you use antifungals for treating neutropenic sepsis?
Antifungal therapy is not usually indicated as part of first line empiric treatment of neutropenic sepsis in the absence of any specific clinical features to suggest invasive fungal disease. However empiric antifungal treatment should be considered if the clinical response to appropriate broad spectrum antibiotics is poor.
236
Schistosoma is a risk factor for which bladder cancer?
Squamous cell carcinoma. It leads to chronic infection and squamous metaplasia of the bladder mucosa, which is the background on which squamous cell carcinomas develop in this setting.
237
What's the most common type of bladder carcinoma in the UK?
Transitional cell carcinoma
238
A 52-year-old woman is investigated for a six-week history of proximal leg weakness and weight gain. Cushing’s syndrome is suspected. When would be the best time to take a sample for cortisol analysis to support or exclude this diagnosis?
Midnight sample
Cortisol has a diurnal variation in its production - peaking just before waking and then reducing to a low level at midnight until about 3am, when it again starts to rise. In Cushing’s syndrome, the initial hormone alteration is a lack of reduction rather than excessive morning elevation. So, the diurnal rhythm is lost and cortisol remains at its highest level for a larger proportion of the day. Midnight cortisol will remain above 100 nmol/L. If the diagnosis is expected to be an excess of hormone, the best time to take the sample would be when cortisol production should be at its lowest, i.e. midnight. Although for obvious reasons this requires hospital admission.
239
What tests are performed at 9am?
Cortisol and short synacthen tests are used in the investigation of adrenal insufficiency e.g. Addison’s Disease.
240
What's the short synacthen test?
The synacthen test is used to test adrenal reserve. Synacthen is tetracosactrin, the first 24 amino acids of ACTH.
Short synacthen test:
take a basal sample for cortisol
give 250 microgramme Synacthen i.v. or i.m.
sample for cortisol are taken at 30 mins and 60 mins
In healthy individuals, the basal plasma cortisol should exceed 170 nmol per litre and rise to at least 580 nmol per litre. The hypoadrenal patient is unable to raise their serum cortisol in response to synacthen.
241
What does polychromasia indicate?
reticulocytosis, which reflects a highly active bone marrow, trying to compensate for the anaemia
242
What's seen on a blood film of autoimmune haemolytic anaemia?
Spherocytes (warm, IgG, AIHA)
red cell agglutination (cold IgM mediated AIHA)
243
What type of anaemia could a mechanical valve cause? What would you see on a blood film/blood tests?
Slight macrocytic (reticulocytes)
Schistocytes
Increase LDH
Decrease haptoglobin
244
Causes of nephrotic syndrome
- minimal change disease
- focal glomerulosclerosis
- membranous glomerulonephritis
- Diabetic nephropath
- lupus nephritis
245
minimal change disease
most common cause of nephrotic syndrome in young children
mostly steroid responsive
normal light microscopy, fusion of podocyte foot processes on electron microscopy
246
focal glomerulosclerosis
approximately 10% of children with nephrotic syndrome, rising incidence in adults
variety of pathogenic and aetiological factors including diabetic nephropathy, HIV infection, heroin abuse and reflux nephropathy
247
membranous glomerulonephritis
alternative name: membranous glomerulopathy
85% no identifiable cause, others infective eg. hepatitis B, malaria, drugs eg. penicillamine, gold, heroine, tumours eg. lymphomas, melanomas, lung and breast carcinomas
248
Diabetic nephropathy
In its early stages presents with microalbuminuria which typically progresses to nephrotic syndrome / chronic renal failure.
249
IgA nephropathy
commonest type of glomerulonephritis
typically presents in young adult males with episodic haematuria often coinciding with an upper respiratory infection.
However, a wide spectrum of changes may occur and 10% of patients display nephrotic syndrome.
250
Which conditions can be associated with all of the three major clinical syndromes (nephritic syndrome, nephrotic syndrome and acute renal failure)?
IgA nephropathy and lupus nephritis
251
A 50 year old man visits his GP accompanied by his wife. The patient's wife expresses concerns about his erratic behaviour. He has appeared a little confused when arriving home from work, but after eating his dinner he behaves quite normally. He is also confused in the mornings but his symptoms resolve soon after breakfast. Which of the following would be the best initial investigation to help establish the diagnosis?
Fasting plasma glucose
This man is demonstrating the symptoms of hypoglycaemia and the most likely diagnosis is insulinoma (insulin-secreting tumour). The symptoms resolve when the patient is able to eat. Fasting plasma glucose will be low with concomitantly raised insulin and C-peptide levels.
252
What are oral glucose tolerance tests used for?
Oral glucose tolerance tests are used to diagnose diabetes and impaired glucose tolerance.
253
A patient presents with hypoglycaemia. You suspect it coud be due to growth hormone deficiency or cortisol insufficiency. What test should you do?
Insulin tolerance test
254
A well 23-year-old woman who is 12 weeks pregnant attends her routine antenatal clinic ‘booking appointment’ where she has a routine mid-stream urine (MSU) sample taken. Culture of her urine grows E. coli at >105 colony forming units per ml (cfu/ml). However she denies any urinary or systemic symptoms. A repeat MSU culture yields the same results. Which of the following statement best describes the appropriate management and clinical syndrome?
Treat with oral antibiotics for asymptomatic bacteriuria in pregnancy
255
Complications of asymptomatic bacteriuria in pregnancy
- upper urinary tract infection
- pre-term labour
- low birth weight babies
256
Clinical features typical of thyrotoxicosis
alpitations, sweating, weight loss
257
When would you use plasma metanephrines?
diagnosis of phaeochromocytoma
258
tight tethered skin
systemic sclerosis
259
Signs and symptoms of Sjogrens syndrome
The hallmark symptom of SS is a generalized dryness, typically including dry mouth and keratoconjunctivitis sicca (dry eyes), part of what are known as sicca ("dryness") symptoms. Sicca syndrome also incorporates vaginal dryness and chronic bronchitis. SS may cause skin, nose, and vaginal dryness, and may affect other organs of the body, including the muscles (myositis), kidneys, blood vessels, lungs, liver, biliary system, pancreas, peripheral nervous system (distal axonal sensorimotor neuropathy or small fiber peripheral neuropathy) and brain.
260
A 64-year-old obese man is feeling increasingly tired and is found to have polycythaemia on routine blood tests. Further investigations reveal microscopic haematuria and a well-demarcated small round mass in the lower pole of his kidney. The resected renal mass has a yellow grey cut surface with areas of haemorrhage and necrosis. What is the most likely diagnosis?
Renal cell carcinoma
261
Risk factors for renal cell carcinoma
Obesity
smoking
rare inherited disorders (Von Hippel Lindau syndrome)
262
Signs, symptoms and histology of urothelial carcinoma
arises from the renal collecting system and presents with haematuria early, which is more likely to be frank rather than microscopic. They typically have a tan papillary surface
263
What's Nephroblastoma?
rare childhood renal tumour
264
A rare tumour associated with tuberous sclerosis
Angiomyolipoma
