Half way test Flashcards
Presentation of pulmonary TB
- weight loss
- haemoptysis
- fevers
- night sweats
In secondary tuberculosis the lung lesions are often cavitating, and bilateral.
What is secondary TB?
Seen mostly in adults as a reactivation of previous infection (or reinfection), particularly when health status declines.
Clinical presentation of bronchiectases
- chronic cough
- productive of copious foul-smelling sputum
- at risk of recurrent lower respiratory infections
A 32-year-old male intravenous drug user presents to the emergency department with 72 hours of fever and progressive fatigue. He has 5 splinter haemorrhages; on examination of his jugular venous pressure he has giant v waves, and auscultation of his heart reveals a new systolic murmur. Chest examination is normal. What organism is most likely to be the cause of his presentation?
Staphylococcus aureus
Fatigue, fevers and IV drug user
Also murmur and splinter haemorrhages
Endocarditis
When can coagulase negative staphylococci cause endocarditis?
Normally on a prosthetic heart valve
What type of endocarditis does Coxiella burnetii cause?
Culture negative
If you have anaphylaxis symptoms with no prior exposure what’s causing it?
Anaphylatoxin activity i.e. mast cell triggering through complement receptors
A few minutes after being given an intramuscular injection of an antibiotic a 24-year-old woman becomes agitated and complains of severe itching and dizziness. She starts to wheeze and her lips begin to swell. She had previously been given the same antibiotic with no obvious problems. What is the most likely mechanism underlying her symptoms and signs?
Her symptoms and signs and the timing of these are typical of anaphylaxis. Thus the mechanism is acute mast cell triggering and activation most likely to be due to specific IgE antibodies to the antibiotic
What’s the time course for an immune complex mediated reaction?
several hours
What’s the time course for a T cell mediated reaction?
a couple of days
A 14-year-old girl develops a red, itchy, scaly rash affecting both ear lobes. The rash began about 3 weeks after she started wearing new ear rings. She is otherwise in good health. What is the most likely diagnosis of the rash?
Allergic contact dermatitis
What’s the typical distribution of atopic allergic eczema?
In the creases of the elbows and/or knees
What’s the typical distribution of discoid lupus erythematosus?
Sun exposed areas of skin
Presentation of psoriasis
thickened, scaly (silvery) skin often affecting extensor surfaces
A 35-year-old beekeeper develops a red itchy rash, wheeze and faintness a few minutes after being stung by a bee. He had been stung previously with a similar reaction. What is most essential in his acute management?
Anaphylaxis -> Intramuscular epinephrine
Hydrocortisone will not be immediately effective and is used to prevent relapse of symptoms.
When is IV epinephrine used?
Not for anaphylaxis!
Intravenous epinephrine can be hazardous in inexperienced hands and is usually reserved for situations where the patient is being closely monitored e.g. in theatre or ITU.
Example of antihistamine
Chlorphenamine
A 20 year old woman has increasing urinary frequency and thirst over three months. She is admitted to hospital unconscious. Arterial blood gas analysis shows: pH 7.10 (7.35-7.45) pCO2 3.0 kPa (4.5-6.0) HCO3 10.5 mmol/L (24-30) What is the likely cause?
DKA
Metabolic acidosis
What would the ABG of Conn’s syndrome show?
(primary hyperaldosteronism)
metabolic alkalosis because of increased proton excretion in the distal renal tubule
When would you take an HbA1c measurement?
Long-term monitoring of glycaemic control
approximate average of glucose results over the last 2-3 months
When is the fasting blood glucose used?
To make an initial diagnosis of diabetes mellitus.
When is the urinary microalbumin is used?
to assess for early renal damage in diabetic nephropathy
When are urinary ketone levels assessed?
To diagnose diabetic ketoacidosis
although serum ketones are more reliable
What test would you use to exclude acromegaly?
Random serum insulin-like growth factor (IGF-1)
Serum IGF-1 is a relatively specific test for acromegaly, does not suffer from high within-individual variability, and does not require a dynamic suppression test.
A 68 year old man presents with a one-year history of progressive dyspnoea. On echocardiography the left ventricular wall seems to be severely hypertrophic. His chest radiograph reveals pulmonary oedema and a prominent left heart shadow.
What is the most likely underlying condition?
Hypertension
Emphysema, silicosis and pulmonary hypertension can cause which type of heart problem?
right ventricular hypertrophy and
cor pulmonale
What heart problem is associated with alcohol abuse?
Dilated cardiomyopathy
How is influenza diagnosed?
PCR of a throat swab
A 68-year-old woman has suffered from burning substernal pain for many years. This pain occurs after meals. She now has difficulty swallowing. Endoscopy reveals a lower oesophageal mass that nearly occludes the lumen of the oesophagus. Biopsy of the mass is most likely to reveal the presence of which neoplasm?
Adenocarcinoma
GORD -> Barrett’s oesophagus -> Adenocarcinoma
What’s Barrett’s oesophagus?
Long-standing gastrooesophageal
reflux is associated with the development of Barrett’s oesophagus. In this condition the normal squamous mucosal epithelium in the distal oesophagus is replaced by columnar epithelium which is thought to occur as a result of a process termed ‘metaplasia’. This metaplastic epithelium is thought to provide more resistance to damage caused by reflux of the acidic gastric contents into the lower oesophagus.
A 70-year-old man has alternating episodes of constipation and diarrhoea. He has occasionally noticed a small amount of blood in his stool. He is otherwise fit and well, does not have a temperature, abdominal pain or weight loss. Colonoscopy shows small openings in the mucosa which appear to extend into pouch like cavities. The intervening mucosa looks normal. What is the diagnosis?
Diverticular disease is charact
Where do diverticular often occur?
most common in the left side of the colon, particularly the sigmoid colon
A 65-year-old man presents with a three-month history of weight loss, increasing unilateral left-sided pleuritic chest pain and shortness of breath. A chest X-ray shows marked nodular thickening of the entire left pleural lining. There are pleural plaques on both sides and there is a small left pleural effusion. Which aspect of the history would you explore in order to identify the main cause?
Occupational history
- weight loss
- pleural symptoms (Pleural plaques and pleural effusions)
- worked in a ship yard
What’s the condition? Should you sign a death certificate?
Mesothelioma (asbestos exposure)
Sign nothing; refer to coroner!
An 89-year-old chronic smoker has chronic low oxygen levels. He uses oxygen therapy at home but symptoms progress and he dies of respiratory failure. What would be the expected lung pathology at autopsy, which would account for chronic hypoxia in this man? A. Centrilobular emphysema B. Chronic pleural effusions C. Mesothelioma of the pleura D. Panacinar emphysema E. Pulmonary fibrosis
Centrilobular emphysema
Clinical history implies COPD. Mostly caused by smoking.
There are several causes of emphysema, but it develops most commonly in association with cigarette smoking affecting predominantly the upper lobes of the lungs, with destruction of the walls of the respiratory bronchioles. This is also termed centrilobular emphysema.
Centrilobular emphysema associated with…
smoking
upper lobes of the lungs, with destruction of the walls of the respiratory bronchioles
Panacinar emphysema is associated with…
alpha-1 antitrypsin deficiency
predominantly affects the lower lobes, and is characterized by destruction of the airspaces distal to the terminal bronchiole, i.e. the respiratory bronchiole and the alveolus, hence the term ‘panacinar’.
Will the coroner ask the family permission to do the autopsy?
No!
The family cannot give or withhold consent for an autopsy when a death is referred to the coroner.
A 65-year-old man presented with a 6 week history of increasing jaundice on a background of 3 months weight loss and anaemia. On questioning he had no pain and no previous history of note. Albumin 32 g/L (35-50) Bilirubin 350 µmol/L (3-17) ALT 25 IU/L (10-45) ALP 570 IU/L (80-250) GGT 350 IU/L (15-40) What is the most likely diagnosis?
Painless jaundice + weightloss = Carcinoma of the head of the pancreas
Presentation of primary biliary cirrhosis (including suspected liver function tests)
- more common in women
- long history
- raised biliary enzyme elevation (ALP and GGT) but minimal bilirubin increase
A 49-year-old man experiences increasing swelling of his abdomen due to ascites. Liver biopsy demonstrates diffuse portal tract bridging fibrosis and nodular regeneration of liver cells. There is no hepatocyte necrosis and no cholestasis. Within the areas of fibrosis, bile duct proliferation and mononuclear cell inflammatory infiltrates can be seen. What is the diagnosis based on the histology?
Liver cirrhosis
Liver cirrhosis is characterised by…
Fibrosis of the liver parenchyma with nodular regeneration of the hepatocytes. It is considered to be an irreversible process.
A 50-year-old man collapsed after climbing out of his local swimming pool. He was taken to the local emergency department where he was found to be in a coma, with a blood pressure of 200/130 mm Hg. He had recently been complaining of intermittent episodes of sweating, tachycardia, palpitations and headaches.
What is the most likely underlying cause of his symptoms?
Phaeochromocytoma
Definition of malignant hypertension
Diastolic >120 mm Hg
Triad of symptoms of a hypertensive attack
- sweating
- tachycardia
- headache
Cell of origin of a phaeochromocytoma
adrenal chromaffin cells
Investigation for microcytic anaemia
Serum ferritin
High -> acute phase response
Low -> iron deficiency
What’s more likely to give a macrocytosis….Polycythaemia vera or alcohol?
Alcohol
Poor neutrophil granulation (reflected in their suboptimal function), and red cell morphological variation
What could it be?!`
Myelodysplasia
A 50-year-old man reports a six month history of increasing fatigue with worsening left upper quadrant pain. The blood film shows a range of mature and maturing myeloid cells, but no excess of blasts. Diagnosis?
CML
FLT3 mutation
AML
When is immunophenotyping of peripheral blood useful?
Good for subclassifying abnormal lymphoid populations and also for determining the lineage of blast cells - but it tends not to be useful in CML, where the excess population comprises granulocytes.
What are megaloblastic changes and when do they occur?
‘Megaloblastic changes’ describes a specific series of features in the marrow, characterized by a delay in nuclear maturation. These are seen in B12 deficiency, folate deficiency, and also in the context of some drugs.
Prognosis of hep A
The virus is self limiting in the vast majority of cases with fulminant (severe and sudden in onset) disease occurring rarely
Complication of CMV during pregnancy
Women can pass CMV to their baby during pregnancy. The virus in the woman’s blood can cross through the placenta and infect the baby. The infant may or may not be symptomatic at birth, presenting with rash, jaundice, hepatosplenomegaly or seizures. Even if asymptomatic the baby is a risk of long-term health problems such as hearing loss, visual impairment, learning difficulties and epilepsy. CMV infection is responsible for about 25% of childhood deafness.
Symptoms of congenital CMV infection
symptomatic at birth
rash, jaundice, hepatosplenomegaly or seizures
What’s the prophylactic treatment for an allogeneic bone marrow transplant for acute myeloid leukaemia?
aciclovir and fluconazole
Empiric treatment for neutropenic sepsis
IV piperacillin-tazobactam
A 32-year-old woman receives an allogeneic bone marrow transplant for acute myeloid leukaemia. She is started on prophylactic aciclovir and fluconazole according to the local protocol. In the second week post transplant, while she remains profoundly
neutropenic (white cell count 0.5 x109/mL, neutrophils 0.1 x109/mL), she develops fever and breathlessness. Empiric treatment is started with IV piperacillin-tazobactam but despite this her fever persists, she becomes more breathless, and chest x-ray and CT show worsening infiltrates in the left upper zone. There are no other symptoms or signs of focal infection and several sets of blood cultures are culture negative.
Treatment for what group of organisms should be considered?
Moulds
This is a common clinical scenario in transplant haematology. Neutropenia greatly increases the risk of invasive bacterial and fungal infections, and the risk of fungal infection increases with the severity and duration of neutropenia. Having failed to respond to appropriate broad spectrum antibiotic therapy the likelihood of fungal infection increases, and the clinical course and radiology would be in keeping with a mould infection - of which Aspergillus is the most common. Although the patient is receiving fluconazole as antifungal prophylaxis, this is not active against Aspergillus (for this reason many centres now use alternative antifungals such as voriconazole or posiconazole for prophylaxis).
What could be used to treat aspergillus?
voriconazole or posiconazole
What blood test might you do to test for aspergillus?
alpha-galactomannan (component of the cell wall)
What’s a high potassium associated with?
Acidosis (H+ excreted in exchange for K+)
Would cushings cause hypo or hyper kalemia?
Hypo.
Mineralocorticoid action produced from a cortisol excess results in Na+ reabsorption and K+ secretion.
What’s enuresis?
a repeated inability to control urination
When would you take a random plasma glucose measure?
When you suspect type I DM.
A venous plasma glucose is likely to be elevated above 11mmol/L so the diagnosis can be made immediately in conjunction with at least one clinical symptom
A 57-year-old smoker presents with a worsening dry cough and a 5-month history of weight loss. Chest X-ray reveals a left hilar mass and transbronchial biopsies show tumour characterised by irregular invasive islands of pleomorphic cells with a moderate amount of eosinophilic cytoplasm and intercellular bridges. There are focal keratin whorls. What is the most likely sequence of events at the tissue level leading to carcinogenesis in this case?
Squamous metaplasia, dysplasia, carcinoma
Lung cancer with intercellular bridges and keratin production is characteristic of? Most important risk factor?
Squamous cell carcinoma, smoking
A 36-year-old woman complains of episodes of burning pain in the epigastrium for the past two years. They are exacerbated by stress with temporary relief after eating. More recently, she has been waking up at night with severe pain, which got better after drinking milk.
What is the most likely diagnosis?
Peptic ulcer
This lipoprotein fraction is decreased by aerobic exercise and by treatment with statins. Its level is increased in hypothyroidism and may be increased in patients with diabetes. Elevated concentrations of this lipoprotein are associated with an increased cardiovascular risk.
LDL cholesterol
Low density lipoproteins (LDL) are the principal carriers of cholesterol and are removed from the circulation by the liver and other tissues (by a receptor-dependent process involving the recognition of apo B-100 by the LDL receptor)
What’s the typical presentation of a hyperosmolar hyperglycaemic state?
(previously known as hyperosmolar non-ketotic hyperglycaemia or HONK)
- type 2 diabetes
- collapse
- has been unwell (e.g cough)
- dehydrated and confused
- elevated plasma glucose
- raised creatinine
Cause of hyperosmolar hyperglycaemic state
This occurs in patients with type 2 diabetes with increased counter-regulatory hormones (commonly due to an intercurrent illness such as infection) or who stop taking their diabetes medications. Small amounts of insulin suppress lipolysis and ketone production.
How would you treat someone in a hyperosmolar hyperglycaemic state?
Treatment of this medical emergency includes rehydration, antibiotics to treat infection and prophylactic anti-coagulation.
Intravenous insulin is only started if blood glucose is no longer falling with IV fluids alone or if there is significant ketonaemia.
What causes purplish fleshy lesions assoicated with HIV?
Human herpes virus infection
The lesions are Kaposi Sarcoma (KS), caused by infection with Human herpes virus 8 (HHV8, also known as Kaposi sarcoma virus) in the context of advanced immunosuppression due to HIV.
The virus causes abnormal vascular proliferation that usually first affects the skin but may affect almost any organ system including any part of the gastrointestinal tract (seen in this case in the mouth) and the lungs
How do you treat Kaposi Sarcoma (KS)?
Antiretroviral therapy (ART)
Other treatments that may be used for more severe or cosmetically disfiguring disease include local radiotherapy and chemotherapy.
A 45-year-old woman with a longstanding history of biliary colic presents with vomiting and severe central epigastric stabbing pain radiating through to her back. This pain is different from her usual symptoms of biliary colic and not relieved by painkillers. Blood tests reveal raised bilirubin, raised ALP, raised CRP, low serum calcium (corrected) and significantly elevated serum amylase and lipase. Blood gas analysis shows a metabolic acidosis.
What is the most likely underlying cause of disease in this patient?
Gallstone disease (Acute pancreatitis)
When does intrahepatic cholestasis of pregnancy usually occur?
Third trimester
Presentation of intrahepatic cholestasis
- pruritus due to accumulation of bile acids in the skin and later mild jaundice
- plasma alkaline phosphatase activity can be increased up to ten times normal
BUT…
- most sensitive test for this condition is bile acids, which can be raised up to a hundred-fold and may be the only biochemical abnormality
What’s the most sensitive test for intrahepatic cholestasis?
bile acids
What is the risk of intrahepatic cholestasis during pregnancy?
premature labour and stillbirth
When does intrahepatic cholestasis resolve?
Rapidly upon delivery
What are the diagnostic features of SIADH?
- hyponatraemia
- decreased plasma osmolality
- inappropriately concentrated urine
- continued natriuresis with urine sodium >20 mmol/L
- no clinical evidence of fluid overload or depletion
- normal renal, adrenal (normal 9am cortisol) and hyroid function
What’s the treatment for SIADH?
- fluid restriction
- further investigations to find the underlying cause
A 21-year-old man with a history of intravenous drug abuse presents with ascites, jaundice and bilateral leg swelling, which have developed over the past year. He recalls an acute transient episode of jaundice several years ago. Liver biopsy confirms cirrhosis and shows ground-glass inclusions. Which virus is most likely to be responsible for the signs and symptoms?
Hepatitis B
This patient suffers from cirrhosis. Intravenous drug abuse is an important risk factor for viral liver disease
Viruses associated with chronic hepatitis and liver cirrhosis
Hepatitis B and C
Cirrhosis and ground-glass inclusions
hepatitis B
What type of cirrhosis does Hep A cause and how is it transmitted?
Acute hepatitis
‘faecal-oral’ spread
Hepatitis during pregnancy
Hep E
A 38-year-old man has a sensation of a lump in his throat and difficulty swallowing that began about an hour previously. A month prior to this he had been started on an angiotensin converting enzyme inhibitor (ACE inhibitor) for high blood pressure. He is treated as an emergency for swelling of his tongue and larynx.
Results of blood tests done subsequently show:
Complement C3 102mg/dL (70-140)
Complement C4 3mg/dL (13-45)
What is the most likely mechanism of the swelling?
Excess bradykinin
What does a reduced complement C4 suggest? And when can it be aggravated?
Underlying C1 inhibitor deficiency
ACE inhibitors
A neonate is found to be pale and slightly jaundiced at birth. There is no family history of haematological disease. His blood film shows an increased number of reticulocytes and some spherocytes, and a direct antiglobulin test is positive on cord blood.
Which of the following is the most likely diagnosis?
A. Autoimmune haemolytic anaemia
B. Glucose-6-phosphate dehydrogenase deficiency
C. Haemolytic disease of the newborn
D. Hereditary spherocytosis
E. Pyruvate kinase deficiency
C. Haemolytic disease of the newborn
This baby has features typical of haemolytic anaemia; the positive DAT on the baby’s blood is strong evidence for this being an immune haemolysis. The neonate will not yet be able to mount an autoimmune response - leaving the alloimmune haemolytic disease of the newborn as the only correct option.
What test would you do if you suspected Wilson’s disease?
caeruloplasmin
Antibody test for primary biliary cirrhosis?
Anti-mitochondrial antibodies
A 35-year-old woman with a history of sickle cell anaemia presents with fever, nausea and abdominal pain. On examination she has a temperature of 37.9°C and is tender in the right upper quadrant of her abdomen, exacerbated by deep inspiration. Which of the following pathogens is most likely to be responsible for her clinical presentation?
A. Escherichia coli B. Listeria monocytogenes C. Plasmodium ovale D. Salmonella paratyphi E. Streptococcus pneumoniae
A. E.coli
The clinical presentation is of acute cholecystitis. This is probably due to gallstones resulting from chronic haemolysis due to her sickle cell anaemia. Stone impaction in the cystic duct is followed by tissue necrosis and bacterial proliferation in the gallbladder. The organisms implicated are those of the commensal gut flora, e.g. E. coli.
A 45-year-old man has been feeling generally unwell for the past three weeks, with fatigue, mouth ulcers and easy bruising. A blood count demonstrates profound pancytopenia, but inspection of the blood film fails to highlight any diagnostic features. A bone marrow aspirate and trephine are therefore performed, showing:
a markedly hypercellular marrow which is almost entirely composed of large granulated blasts. There is very little evidence of myeloid maturation, and erythroid activity is markedly suppressed.
What is the most likely diagnosis?
Acute myeloid leukaemia
High numbers of neutrophils and their precursors (band forms, myelocytes) in the peripheral blood and marrow is suggestive of
CML
Pancytopenia and an empty marrow is characteristic of…
Aplastic anaemia
A 50-year-old man presents with flatulence, abdominal pain and abdominal distension. He has been passing bulky, foul-smelling stools for several weeks. He has a history of excess alcohol intake. His general practitioner finds that he is anaemic with iron deficiency, has low plasma calcium and low plasma phosphate. Possible cause?
Chronic pancreatitis
This man has the typical features of malabsorption. The low calcium and phosphate are a result of vitamin D deficiency and he is also at risk of vitamin A, vitamin E and vitamin K deficiency. The history of alcohol excess makes chronic pancreatitis a likely
diagnosis
A 23 year old woman with cystic fibrosis develops worsening cough and breathlessness associated with a low grade fever and production of increased amounts of mucopurulent sputum. A sputum sample is sent to the laboratory for culture and grows Pseudomonas aeruginosa. The doctor would like to treat the patient with an oral antibiotic at home. What shold you give?
Ciprofloxacin
What is an organism that colonises CF/bronchiectasis patients and is associated with a poorer prognosis than pseudomonas?
Burkholderia cepacia
catalase-producing, lactose-nonfermenting, Gram-negative bacteria
Blood film of AIHA
Spherocytes
MAHA is characterized by what on a blood film?
Schistocytes
A 33-year-old woman has a ‘stroke’ due to cerebral vascular thrombosis. She has previously been well and is not on any medication including the oral contraceptive pill. She is trying to conceive having had 4 miscarriages over the previous 4 years. Apart from mild thrombocytopenia, full blood count is normal. Tests for antinuclear antibody, antibodies to ds DNA and anti-neutrophil cytoplasmic antibodies are negative.
What is the most likely diagnosis?
Antiphospholipid antibody syndrome
Stroke in a young person and a woman with a history of recurrent miscarriage. Think…
Antiphospholipid antibody syndrome
ANCA tests for…
Small vessel vasculitises
- Granulomatosis with polyangiitis
- Microscopic polyangiitis
- Churg Strauss
ANCA
Anti-neutrophil cytoplasmic antibody
The main reservoir for Campylobacter jejuni is….
poultry
Two-thirds of raw chicken sold in the UK is contaminated with Campylobacter!
A 41 year old man with a 4 week history of malaise, weight loss and cough productive of blood stained sputum is found to be in acute renal failure. He works as a lawyer, has never smoked and has no known contact with tuberculosis. Chest x-ray reveals cavitating lesions in both upper lobes. Initial blood tests show C-reactive protein of 120mg/L (<8).
Which autoantibody test would be of most help in making the diagnosis? A. Antibody to double stranded DNA B. Antineutrophil cytoplasmic antibody C. Antinuclear antibody D. Antiphospholipid antibody E. Glomerular basement membrane antibody
Antineutrophil cytoplasmic antibody
The clinical findings are compatible with granulomatosis with polyangiitis (GPA, formerly Wegener’s granulomatosis).
The differential diagnosis of the combination of haemoptysis and renal failure includes SLE and Goodpasture’s syndrome, hence testing for antinuclear antibodies and antibodies to glomerular basement membrane should be considered, but the cavitating lung lesions makes GPA more likely. Lung involvement such as this is not a feature of the antiphospholipid antibody syndrome.
What’s the condition?
abnormally shaped red blood cells, massive splenomegaly, bone marrow aspirate yields a ‘dry tap’, molecular studies show JAK2 V617F
Myelofibrosis
A 34-year-old man is admitted to the emergency department late on a Friday evening in a confused state, smelling strongly of alcohol. A partial history is gained from his accompanying wife, who said she found him on the floor in his shed, apparently unconscious. He regained consciousness on shaking but complained of poor vision on the journey into the hospital. Arterial blood gases show: pH 7.12 (7.35-7.45) pCO2 3.4 kPa (4.5-6.0) HCO3 14 mmol/L (24-30) His calculated anion gap is elevated.
What is the most likely diagnosis?
This is a classical story for methanol poisoning. The blurred vision is a result of the toxicity to the optic nerve. The metabolic products of methanol are methanal (formaldehyde) and methanoic (formic) acid, leading to severe metabolic acidosis with increased anion gap. Ethylene glycol poisoning is a possible cause of metabolic acidosis with raised anion gap but the optic nerve toxicity makes methanol poisoning more likely. Treatment is to inhibit the metabolism of methanol by alcohol dehydrogenase, using either ethanol or fomepizole.
How would you reverse methanol poisoning?
Treatment is to inhibit the metabolism of methanol by alcohol dehydrogenase, using either ethanol or fomepizole.
A 23-year-old woman has a 4-week history of malaise, rash, and painful, stiff knees and ankles. Clinical examination reveals the rash on her cheeks. Urine analysis shows 2+ proteinuria and microscopic haematuria. The blood test for rheumatoid factor is negative.
What would be the most useful autoantibody test to request next?
Suggestive of systemic lupus erythematosus
Antinuclear antibody is highly sensitive and would be the most useful test to request next
Risk factors for PE
- morbidly obese
- recent immobilisation
- recent surgery
Lung contusion is associated with…
Trauma
Pulmonary haemorrhage is associated with…..
Inflammation, infection and neoplasia and the patient would experience haemoptysis
If a patient is diagnosed with TB what should you also test for?
HIV
An 84-year-old lady who is hypertensive and who has been suffering from attacks of angina, complains of severe chest pain, collapses and dies. Autopsy examination reveals haemopericardium and macroscopically the left ventricular free wall is very haemorrhagic.
What is the most likely diagnosis?
Myocardial rupture
What is the most common underlying cause of myocardial infarction?
Atherosclerosis
A 50-year-old woman has recurrent, severe headaches. Her GP notes that she is plethoric and has a palpable spleen tip, and requests a blood count:
Hb 189g/L (120-150)
WBC 15x109/L (4-11)
Neutrophils 12x109/L (2-7)
Platelets 480x109/L (150-400)
In the light of the increased haemoglobin level, an urgent repeat is requested, which shows similar results.
What is the most appropriate next test?
JAK2 mutation analysis
The predominant feature in the clinical vignette is the high haemoglobin - but there is also a mild neutrophilia and mild thrombocytosis, and evidence of splenomegaly. Together these suggest polycythaemia vera. >95% of patients with polycythaemia vera will have the JAK2 V617F mutation.
A 45-year-old man with a past history of severe hypertension experiences tearing central chest pain radiating to the back, collapses and dies within an hour. Autopsy examination shows 300ml of blood in the pericardial sac. On opening the aortic arch a 1cm tear is seen in the intima. What is the most likely diagnosis?
Aortic dissection
It tracked proximally in a retrograde fashion, such as in this case, resulting in rupture into the pericardial cavity, and formation of a haemopericardium. This would have led to acute cardiac tamponade, which is incompatible with life.
What type of antibiotic is most appropriate to treat an organism with extended spectrum beta-lactamase activity (ESBL)?
Carbapenem
A 74-year-old female with a history of chest and lower leg pain on exertion presents to the Emergency Department with severe poorly localized abdominal pain associated with a small amount of bloody diarrhoea. On examination her abdomen is soft and diffusely tender. There are reduced bowel sounds. Arterial pH is 7.21 (7.35-7.45), pCO2 3.1 (4.5-6.0) and HCO3 18 mmol/L (22-28).
What is the most likely diagnosis? A. Acute volvulus B. Ischaemic bowel C. Pseudomembranous colitis D. Toxic megacolon E. Ulcerative colitis
B. Ischaemic bowel
A 63 year-old man is admitted with a chest infection. Arterial blood gases on admission show pH 7.31 (7.35-7.45), pCO2 8kPa (4.5-6.0) and HCO3 33 mmol/L (24-30).
What is the most likely diagnosis?
COPD
A 23-year-old woman has a 6 week history of altered bowel habit, abdominal pain and blood in her stools. She has a previous history of small bowel obstruction for which she required surgery. She also suffers from painful mouth ulcers.
What is the most likely diagnosis?
Crohn’s disease
What’s the condition?
Occurs in any part of the GI tract from ‘mouth to anus’ and is characterised by skip lesions
Crohn’s disease
How should you diagnose malaria?
Thick blood film is the most sensitive way to routinely diagnose malaria however importantly a single negative blood slide for malaria parasites does not rule out the diagnosis, and should be repeated daily over 2-3 days. This is due to the life cycle of malaria in which erythrocytic schizogeny takes place over 48-72 hours leading to fluctuations in detectable parasites over this period.
What’s the most common and serious cause of malaria?
Plasmodium falciparum
Features of pemphigus
- painful blisters affecting skin and mucus membranes
- burst almost immediately leaving superficial ulcers
- on biopsythe skin appears to have split through the epidermis
Antibody test for pemphigus
Antibodies to desmoglein-3
A 37 year old man of Saudi Arabian ancestry has a moderate microcytic anaemia with an elevated HbA2 level. He has required transfusions in the past: several during his early childhood, and once associated with an episode of pneumonia as an adult.
What is the most likely diagnosis?
Beta thalassaemia intermedia
The high HbA2 points to a defect in the beta globin locus. The clinical picture is ‘intermediate’ between beta thalassaemia major (with its complete dependence on transfusion) and beta thal trait (which is asymptomatic).
ABG of blood in Conn’s and pyloric stenosis
metabolic alkalosis
A 71-year-old man is admitted in distress with lower abdominal pain and increasing difficulty passing urine over the last three days. He has been unable to pass urine for the last 12 hours. Examination reveals bladder distension. His past history includes prostatic hyperplasia for which he declined intervention. His biochemistry results show: plasma bicarbonate 15 mmol/L (24-30) potassium 5.6 mmol/L (3.5-5.0) creatinine 564 μmol/l (50-105) urea 24 mmol/L (2.5-7.0)
What is the most likely diagnosis?
Acute kidney injury
This story is compatible with acute kidney injury due to obstruction, probably associated with prostatic enlargement.
What are patient with hyposplenism or asplenism at risk from?
Invasive infection secondary to encapsulated bacteria.
Invasive infection in this setting is most commonly secondary to S. pneumoniae
Causes of asplenism
- congenital
- traumatic
Causes of asplenism
- congenital
- traumatic
Encapsulated bacteria
Some Nasty Killers Have Some Capsule Protection
Streptococcus pneumoniae Neisseria meningitidis Klebsiella pnemoniae Haemophilus influenzae Salmonella typhi Cryptococcus neoformans Pseudomanas aeruginosa
A normally independent 66 year old woman with no co-morbidities presents to hospital with fever, cough and shortness of breath. On examination her RR is 26 brpm with saturations of 90% on room air, HR 110 bpm, BP 89/40. She is confused. A chest X-ray reveals a
dense right lower zone consolidation with air bronchograms. A sputum culture taken before antibiotics identifies normal upper respiratory tract flora only.
What is the most likely pathogen causing her illness?
Streptococcus pneumoniae
The patient clinically has a community acquired lobar pneumonia. The most likely pathogen is Streptococcus pneumoniae by far.
Link between platelet count and iron deficiency
Iron deficiency can cause thrombocytopenia
Long term hypokalaemia is associated with
An increased risk of developing nephrogenic diabetes insipidus
What test would you do if you suspected nephrogenic diabetes?
Water deprivation test
A 19 month old previously well baby boy has severe acute meningitis due to Streptococcus pneumoniae. He is the first child of unrelated healthy parents and was born at full-term by normal vaginal delivery.
He recovers from the meningitis after a protracted, difficult course and subsequent investigation of his immune system shows:
IgG 0.9 g/L (5.4 - 16.1)
IgA <0.06 g/L (0.7 - 2.5)
IgM 0.1 g/L (0.5 - 1.8)
What is the most likely diagnosis?
X-linked agammaglobulinaemia
With all three antibody classes markedly reduced in a boy, X-linked agammaglobulinaemia due to mutations in the BTK gene is the most likely diagnosis. These children are usually well for the first few months of life as they have maternal IgG acquired by active transport across the placenta.
A 75-year-old woman with myelodysplasia is admitted with neutropenic sepsis. Her blood count is noted to be significantly worse than six weeks ago, with marked pancytopenia. The film shows “numerous large cells of primitive appearance”.
What has happened?
Progression to acute myeloid leukaemia
Pancytopenia and frequent blasts on the blood film in this setting is strongly suggestive of…
AML
Pancytopenia but with a high neutrophil count and many maturing myeloid cells in the blood…
CML
Pancytopenia and an empty marrow with no excess of blasts…
Aplastic anaemia
What’s the most common cause of a IV cannula infection?
Staphylococcus aureus
What is vitiligo?
a disorder in which white patches of skin appear on different parts of the body. This happens because the cells that make pigment (color) in the skin are destroyed.
Which hormones antagonise insulin?
cortisol
adrenaline
growth hormone
glucagon
Weight loss, nausea and postural hypotension should immediately suggest….
a cortisol deficiency
What test should you do if you suspect a cortisol deficiency?
A short synacthen test should be organised as soon as possible because of the potentially fatal consequences of Addison’s disease. In Addison’s disease, the cortisol levels fail to respond adequately to an injection of synthetic ACTH (synacthen) because of adrenal cortical failure.
Allergy to dust mites is worse at which time of year?
Winter as there is less ventilation
What is Nikolsky’s sign?
The sign is present when slight rubbing of the skin results in exfoliation of the outermost layer. A typical example would be to place the eraser of a pencil on the roof of a lesion and spin the pencil in a rolling motion between the thumb and forefinger. If the lesion is opened (i.e., skin sloughed off), then the Nikolsky’s sign is present/positive.
-ve: Bullous pemphigoid
+ve: Pemphigus vulgaris
A 25-year old man presents with recurrent renal stones. The urologist notes in the patient’s family history that both parents suffered from renal stone disease and the patient remembers that the problem was related to abnormal excretion of amino acids in the urine. The patient recently passed a small stone and this is sent to the laboratory for analysis. Which of the following substances is likely to be the major constituent of the stone?
A. Calcium B. Cystine C. Magnesium D. Phenylalanine E. Serine
The most likely diagnosis is cystinuria, an autosomal recessive disorder affecting proximal tubule amino acid transport. Defective reabsorption of cystine, ornithine, arginine and lysine leads to high levels of excretion in the urine. Cystine is relatively insoluble and there is a tendency to urinary stone (calculus) formation. Treatment options include alkalization of the urine with citrate and chelation therapy with penicillamine (forms a more soluble compound).
What is cystinosis?
a rare autosomal recessive disease in which there is a defect in cystine transport out of lysosomes
red target-like lesions on the palms of the hands and soles of the feet.
erythema multiforme
A 36-year-old female is pregnant with her first child. As the pregnancy progresses it is noted that the blood pressure readings are higher than at the start of the pregnancy and she complains of ankle swelling. A urine dipstick test shows proteinuria (protein ++). Diagnosis?
pre-eclampsia
Pre-eclampsia triad
- increase in blood pressure as the pregnancy progresses (pregnancy-induced hypertension)
- proteinuria
- peripheral oedema
Complications of pre-eclampsia
- cerebral convulsions
- intracerebral haemorrhage
- coma
- death
- associated with disseminated intravascular coagulation with multi-organ failure (e.g. HELLP ‘haemolysis, elevated liver enzymes, low platelets’; and possibly pulmonary oedema)
HELLP
haemolysis, elevated liver enzymes, low platelets
Treatment for pre-eclampsia
- early delivery
- Antihypertensives and bed rest are an interim measure.
A 55-year-old woman presents with a 24 hour history of malaise, fever and chills, followed by rapid development of a facial rash. She has no significant past medical history, but recalls being scratched on her nose by her granddaughter 3 days previously. On examination her temperature is 38.9oC, heart rate 118, blood pressure 112/60, respiratory rate 16, and SaO2 99% on air. She has a well-demarcated florid red rash over the bridge of her nose and the left side of her face that is hot and tender to touch and has a “peau d’orange” appearance. The eyes are not involved. A small scratch is visible on the bridge of her nose. Diagnosis?
erysipelas
This is part of a spectrum of skin infections, and involves infection of the most superficial layers of the dermis - hence the very well demarcated area of erythema. Involvement of the lymphatics often leads to a “peau d’orange” appearance of the skin.
Common organisms causing erysipelas
beta haemolytic streptococci, especially group A streptococci (S. pyogenes)
Pyrophosphate crystals are seen in…
pseudogout
knee joint
A family has recently moved to the UK and the parents present their 6-year-old son to their new general practitioner. The boy has severe learning disabilities and has suffered seizures. He has extremely fair hair and skin and suffers from eczema. A defect in the metabolism of which amino acids is most likely to explain this presentation?
Phenylalanine
typical presentation of untreated phenylketonuria
Pathogenesis of PKU
The defect is in the enzyme phenylalanine hydroxylase and phenylalanine accumulates in the blood, leading to learning difficulties and seizures. The urinary excretion of phenylpyruvic acid (a ketone) is increased and gives the condition its name. Melanin synthesis is defective and this results in hypopigmentation (this occurs because tyrosine is a precursor of melanin and tyrosine synthesis is blocked).
When is PKU typically diagnoses?
The diagnosis is usually made during neonatal screening in the UK (capillary blood taken from a heel-prick sample 5-8 days after birth has high phenylalanine concentration). Screening does not occur in all countries.
Management of PKU
dietary restriction of phenylalanine
X-ray appearance is that of a small radiolucent cortical lesion surrounded by a prominent rim of bony sclerosis
Osteoid osteoma
a cartilage-capped benign and relatively common bony tumour, which arises on the bone surface and typically stops growing with skeletal maturity
osteochondroma
more common in older patients, there is often a long history of pain and swelling and the tumour preferentially involves the axial skeleton (pelvis, ribs, shoulder girdle) but may occur in the metaphysis of long bones (femur, humerus)
Chondrosarcoma
Osteolytic
‘soap bubble’ appearance.
It tends to occur when growth has ceased.
Giant cell
A 65-year-old woman has red, painful, swollen stiff joints of both hands, increasing malaise and worsening shortness of breath on exertion. She is pale with active arthritis of the proximal interphalangeal and metacarpophalangeal joints and a just palpable spleen. There is evidence of interstitial lung disease and small bilateral pleural effusions on lung imaging. What is the most characteristic skin manifestation of this disease?
rheumatoid arthritis, a multi-system disorder in which the most characteristic skin manifestations are rheumatoid nodules, which are subcutaneous and may be multiple
What is a heliotrope rash and what is it associated with?
a violaceous rash on the upper eyelids often associated with swelling and is characteristic of dermatomyositis
Salmon pink plaques
Psoriasis
