Medgems Flashcards
(318 cards)
1
Q
What is the most common cause of iron deficiency anaemia in the developing world?
A
Hookworm
2
Q
What blood test is a measure of fibrin degredation products and may reflect activity of the body’s anticoagulant system?
A
D Dimer
D Dimer is a measure of fibrin degradation products and hence is a proxy measure of how much “clot” is being broken down by the body.
3
Q
What would blood film in iron deficiency anaemia show?
A
Hypochromic microcytic anaemia
Cigar cells (eliptocytes)
4
Q
What is the term given to a group of genetic condition which affect the synthesis of the haem molecule, which is vital for the function of haemoglobin, peroxidase and P450 enzymes?
A
Porphyria
5
Q
A 63 year old man is admitted to hospital with severe pain in his right flank which comes and goes in waves. He cannot remain still while the pain is at its worst.
He has had similar episodes in the past which resolved without him seeing a doctor. He has no other past medical history of note.
Blood tests reveal an elevated calcium (3.1, NR 2.2-2.6); a normocytic anaemia (Hb 90, NR >120); and an elevated urea and creatinine.
After further questioning, he reports pain in his back and his legs which has progressively been worsening.
What is the likely underlying diagnosis?
A
Multiple myeloma
6
Q
What is the reversal agent for rivaroxaban and apixaban?
A
Andexanet alfa
7
Q
A 80 year old man is seen by their GP.
His wife is concerned that his gums have grown. He says when he brushes his teeth, they tend to bleed.
He has had weight loss (10% in the last 6 months) and now bruises easily.
A full blood count shows a low haemoglobin and low platelets. There is an elevated white cell count, with a large number of neutrophils.
A blood film shows the presence of myeloid blast cells.
What is the diagnosis?
A
Acute Myeloid leukaemia
8
Q
What is the classical inheritance pattern of G6PD deficiency?
A
X linked recessive
9
Q
What first line small molecule inhibitor is used in the treatment of chronic lymphocytic leukaemia?
A
Ibrutinib (a tyrosine kinase inhibitor)
10
Q
What description is given to red blood cells which are typically polychromatic and stain heavily for the presence of RNA?
A
Reticulocyte
11
Q
What drug inhibits the fusion protein BCR-ABL and is used in the treatment of Chronic Myeloid Leukaemia?
A
Imatinib
12
Q
What prothrombotic condition is associated with thrombocytopenia and immune complex formation?
A
Heparin induced thromboycytopenia - antibodies directed against heparin AND platelet factor 4
13
Q
A 61 year old man undergoes the NHS Health check and has a blood test.
His cholesterol is high and his WCC is 24 (NR: 4-11) with a neutrophil level of 17 (NR: 1.5-8).
On examination, there is fullness in the left upper quadrant of the abdomen but no lymphadenopathy. He denies any recent travel.
He denies any fever, night sweats or weight loss. He does not feel unwell.
What is the likely diagnosis?
A
Chronic Myeloid Leukaemia
14
Q
A 55 year old smoker presents to ED with unilateral left arm swelling which developed over a few days.
A D dimer is elevated. Platelets are elevated. Other bloods are unremarkable.
A Chest X ray is normal, although shows hyperexpanded lung fields.
What is the most appropriate next investigation?
A
USS Doppler L Arm
15
Q
Heparin induced thrombocytopenia is associated with the formation of antibodies directed against what autoantigen?
A
Platelet factor 4
*not the same as factor 4
16
Q
A 70 year old man presents with painless cervical lymphadenopathy.
Other than an elevated lymphocyte count, his full blood count is normal.
Immunophenotyping of lymphocytes taken from that blood sample reveal the cells are positive for CD19 and CD5.
What is the most likely diagnosis?
A
Chronic lymphocytic leukaemia
17
Q
A 70 year old man is seen in clinic. He describes a history of progressive enlargement of a “lump” in his groin.
USS reveals it to be a lymph node and a biopsy is taken.
What is the likely histopathological type of lymphoma that will be seen on biopsy?
A
Diffuse Large B Cell Lymphoma
18
Q
In which organ is ferritin typically found in the body?
A
Liver
19
Q
What are inclusions of denatured haemoglobin within erythrocytes commonly called when seen in a peripheral blood film?
A
Heinz bodies
20
Q
A 18 year old Greek man has just returned from a holiday to Malawi and arranges a GP appointment.
He said during the holiday he turned yellow, his urine turned brown and he felt more tired than normal.
He has no relevant past medical history, is up to date on her vaccinations and took antimalarial prophylaxis as directed.
The doctor suspects an intravascular haemolysis. Blood tests reveal a normocytic anaemia with unconjugated bilirubinemia. Levels of G6PD were normal. DAT negative.
What is the most likely reason for the intravascular haemolysis?
A
Glucose-6-phosphate dehydrogenase deficiency
Absolute levels of G6PD may be normal during an acute haemolytic crisis - to reflect an increase in RBC formation. However, the actual amount of G6PD per erythrocyte is low.
21
Q
A patient has a normocytic anaemia, an elevated unconjugated bilirubin, elevated LDH and low haptoglobin.
A peripheral blood film reveals spherocytes. Direct Coomb’s test is negative.
What investigation will confirm the diagnosis?
A
Eosin-5-maleimide test
The EMA test helps assess the presence and amount of band 3 protein on the surface of red blood cells. Band 3 protein is an integral membrane protein that helps maintain the shape and stability of red blood cells. In hereditary spherocytosis, there is a deficiency or abnormality in band 3 protein, leading to the formation of spherocytes.
22
Q
A patient with metastatic ovarian cancer is investigated for unilateral lower limb swelling and is confirmed to have a DVT.
What is the most appropriate form of anticoagulation?
A
DOAC
*Used to be LMWH but guidelines changed in 2020
23
Q
Which chemical ion is required to convert Factor IX to Factor X in the intrinsic pathway of the clotting cascade and Factor VII to Factor X in the extrinsic pathway of the clotting disorder?
A
Calcium
24
Q
A 14 year old boy is seen by a haematologist.
He has been referred due to concerns from his GP about a clotting disorder, as he has had recent unexplained petechiae, nosebleeds, tiredness and fatigue.
Bloods from the GP showed a pancytopenia.
The haematologist performs a full physical examination and notes the presence of longitudinal ridging in the nails and areas of whitish grey discolouration in the mouth. There are fine, end inspiratory crackles at both lung bases.
The haematologist suspects a primary bone marrow disorder.
What is the most likely diagnosis?
A
Dyskeratosis Congenita
The classical triad is of nail dystrophy (nail loss, longitudinal ridging), oral leukoplakia (white patches in the mouth) and skin pigmentation (lace like hyperpigmentation of skin creases)
25
What is the inheritance pattern of Sickle Cell Disease?
autosomal recessive
26
Which haematological malignancy does Fanconi anaemia have a risk of developing?
Myelodysplastic syndrome - 30%
Acute Myeloid Leukaemia - 10%
27
What molecule binds free haemoglobin in the bloodstream and may be used in the investigation of haemolysis?
Haptoglobin
28
Other than T lymphocytes, what cell type is primarily infected by HIV?
Macrophages
29
What are the pathogenic antibodies in bullous pemphigoid?
Anti-Hemidesmosome
30
A 34 year old man has severe Crohn's disease. His gastroenterologist wishes to start a biologic drug, infliximab. What infection should be ruled out before commencing the drug?
Tuberculosis
Monoclonal antibodies directed against TNF-alpha are associated with activation and dissemination of latent TB. TNF-alpha is vital for the control of TB infection in the lungs. If it is blocked, TB can grow unchecked. Hence, prior to starting treatment with an anti-TNF-alpha antibody, a mantoux test should be performed to exclude exposure to TB. If the mantoux is positive, an interferon gamma release assay (IGRA) is then performed. If that is also positive, the patient has latent TB and requires treatment before starting the biological therapy.
31
What antigen is injected intradermally as part of the mantoux screening test for tuberculosis?
Tuberculin Purified Protein Derivative
32
What is the target of the antibody P-ANCA?
Myeloperoxidase
33
What is the target of the antibody C-ANCA?
Proteinase 3
34
A 21 year old woman reports weight loss, tiredness, diarrhoea and non-bloody offensive smelling stools. She has had three chest infections requiring antibiotics in the last three years. Blood tests are ordered and reveals a hypochromic, microcytic anaemia with low ferritin. Anti-TTG and anti-endomysial antibodies are negative. There are normal levels of IgG, IgM and IgE. No IgA is found.
What is the most likely cause of her gastrointestinal symptoms?
Coeliac Disease
Particular caution should be noted in the diagnosis of coeliac disease, as the common autoantibodies that are used for diagnosis are of the type IgA (Anti-Endomysial and Anti-Tissue Transglutaminase).
Hence, in IgA deficiency (1 in 600 people), they may be falsely negative.
IgA levels should always be assessed at the same time when assessing for coeliac disease.
35
What immunomodulatory agent may be given to treat chronic granulomatous disease?
Interferon Gamma
36
What monoclonal antibody targets IL-17 and is involved in the treatment of psoriasis, psoriatic arthritis and ankylosing spondylitis?
Secukinumab
37
What is the main metabolite of azathiroprine?
6-Mercaptopurine
*Ensure you check Thiopurine methytransferase levels ahead
38
What class of medication acts by inhibiting phospholipase A2 and reduces the expression of pro-inflammatory cytokines?
Corticosteroids
39
What immune cell releases granzyme and perforin when activated?
NK cells
40
CD8 is specifically a marker of what type of immune cell?
Cytotoxic T cells
41
A 20 year old man is screened for primary immunodeficiencies by his GP after a number of recent, severe infections.
A full blood count was normal.
IgA Normal
IgM Low
IgG Low
What immunodeficiency is this patient likely to have?
Common Variable Immunodeficiency
Diagnosis of exclusion in patients greater than 4 years old. The diagnostic criteria are:
Decrease in serum IgG and a decrease in one of IgM or IgA.
There is a lack of antibody response to antigens or immunisation
More than 4 years old.
Patients will have increased infections with bacteria such as Haemophilus, Strep (usually immunized against) and Staph. There is an increased rate of autoimmune conditions and malignancies. Treatment is with normal human IVIg for life.
42
What assay is used as the first line test for HIV infection?
Enzyme linked Immunosorbent Assay (ELISA)
43
What antiretroviral drug is given as IV monotherapy during labour to prevent vertical transmission of HIV-1?
Zidovudine
44
What monoclonal antibody targets CD20 and is used in the treatment of lymphomas?
Rituximab
45
What antigen does the immune system erroneously target in autoimmune thrombocytopenic purpura?
Glycoprotein 2b/3a
46
What serine protease released by neutrophils causes hepatitis and emphysema in patients deficient in alpha-1 antitrypsin?
Neutrophil elastase
47
Which cell surface receptor allows cells of the innate immune system to bind to immunoglobulins?
Fc receptor
48
What viral enzyme is predominantly responsible for the high mutation rate of HIV and other RNA viruses?
Reverse Transcriptase
49
The paediatric SpR is called to review a 21 day old infant who is pyrexic and appears unwell. His parents are concerned about his florid diarrhoea since birth and an eczema-like rash that has been present since day 3 after birth. He has a fever of 39C. Blood tests reveal a neutrophil count of 8 (normal range: 1.5-8.0), absent T cells and elevated B cells. What primary immunodeficiency is this patient likely to have?
X Linked Severe Combined Immunodeficiency
Defect in the gamma chain of IL2 receptor
50
In skin prick testing, what is used as a positive and negative control?
Histamine = positive
Saline = negative
51
On what cell is the RANK receptor found?
Osteoclasts
Denosumab targets RANKL and therefore prevents the development of osteoclasts. RANKL binds to the RANK receptor on osteoclast precursors and promotes cell differentiation into osteoclasts. Hence, inhibition of RANKL/RANK receptor interaction reduces bone turnover and may increase bone density.
52
Which cytokine is important in the pathogenesis of rheumatoid arthritis, anyklosing spondylitis and inflammatory bowel disease?
Tumour Necrosing Factor alpha
53
How long before skin prick testing must antihistamines be stopped to allow for accurate interpretation?
48 hours
54
The paediatric SpR is called to review a 2 day old infant who is jaundiced, pyrexic and appears very unwell. The parents think he has a problem with his hearing as he did not cry when the fire alarm went off on the ward. He has a fever of 40.1C. Blood tests reveal an absolute neutropenia and absolute lymphocytopenia. What primary immunodeficiency is this patient likely to have?
Reticular dysgenesis
55
A neutrophil releases preformed myeloperoxidase, defensins and neutrophil elastase. What is this process known as?
Degranulation
56
A 23 year old female presents to her GP with painful wrists bilaterally. On questioning, she also hasn't been herself for a few months due to being exhausted. She put this down to looking after her 6 year old with suspected ADHD.
On examination, you notice a scaly erythematous rash on the patient's face sparing the nasolabial folds. She says she got badly sunburnt a few weeks ago on holiday and is still recovering from it. She says the joint pain has been particularly bad since receiving the sunburn.
FBCs reveal an elevated White Cell Count, TFTs unremarkable, Coeliac screen negative, Rheumatoid Factor Positive, ANA positive.
What is the diagnosis?
Systemic Lupus Erythematosus
57
Which joints in the hand are classically not affected by rheumatoid arthritis?
Distal interphalangeal joints
58
The paediatric SpR is called to review a 21 day old infant who is pyrexic and appears unwell. The parents think he has a problem with his hearing as he has been tugging at his ear. There is pain, tenderness and swelling over the mastoid process of his left ear. Blood tests reveal a neutrophil count of 0.1 (normal range: 1.5-8.0) What primary immunodeficiency is this patient likely to have?
Kostmann syndrome
59
What test is the ability of a patient's serum to lyse sheep erythrocytes coated with rabbit anti-sheep antibodies?
CH50 - to test function of complement system
60
What mouse monoclonal antibody targets CD3 on the surface of T cells?
Muromonab CD3
61
What monoclonal antibody can be used in the treatment of osteoporosis?
Denosumab
62
A 5 year old girl is seen by her GP. Her mother says she is unable to sleep at night as her knees, elbows and shoulders are very red and painful, especially to touch. Her mother has also noticed small bumps under her skin. She is currently pyrexic, but the mother says she is still recovering from a bad sore throat two weeks ago.
What is the most likely diagnosis?
Acute rheumatic fever
63
HIV infected CD4+ cells are killed by the immune system. What cell type is responsible for this?
T killer cells (CD8+)
64
Mutation in what cell surface receptor may confer immunity from HIV?
CCR5
65
What HLA allele is associated with Rheumatoid Arthritis?
HLA-DR4
66
Ritonavir is an example of what class of antiretroviral drug?
Protease inhibitor
67
What enzyme, deficient or defective in chronic granulomatous disease, is responsible for the "respiratory burst" that may kill phagocytosed pathogens?
NADPH oxidase
68
What monoclonal antibody targets alpha4 integrin and is used in the treatment of relapsing remitting multiple sclerosis?
Natalizumab
69
What is the long term management of Common Variable Immunodeficiency?
Normal human IVIG
70
Which cytokine is predominantly responsible for T cell proliferation and survival?
IL-2
71
What is the long term management of Bruton's agammagobulinaemia?
Normal human IVIG
72
Which subtype of T helper cells are implicated in the development of allergic diseases, such as asthma or eczema
T helper 2 cells
Parasites and helminths activate the Th2 arm of the adaptive immune response.
This is a process mediated by cytokines such as IL-4, IL-5 and IL-13.
This axis is also implicated in the development of allergy.
73
A 30 year old female is seen by the rheumatologist.
Her mother suffered from rheumatoid arthritis.
She reports an insidious history of tiredness, multiple painful joints and unintentional weight loss. She says the joints most affecting her are her wrists and knuckle joints.
On examination, there is a swan neck deformity of the fingers on both hands. When asked to push her hand against the table, the deformity corrects itself.
She has an elevated ESR but normal CRP.
Autoimmune screen reveals she is ANA positive, with high titres of Anti-Sm, Anti-Ro and Rheumatoid Factor.
What is the diagnosis?
Systemic Lupus Erythematosus
A correctable/reversible deformity suggests Jaccoud's arthropathy as part of SLE rather than a diagnosis of rheumatoid arthritis.
74
What monoclonal antibody targets IL-23 and IL-12 and is used in the treatment of psoriasis or psoriatic arthritis?
Ustekinumab
75
What lymphocyte lineage does mycophenolate mofetil predominantly inhibit?
T lymphocytes
76
A 31 year old accountant reports an itchy rash over the trunk and back that has been present for the last 7 weeks. On examination, there are smooth erythematous papules with evidence of excoriation. She reports no association with food, time and has changed her washing powder to a "Non-Bio" formulation.
What condition is she suffering from?
Chronic urticaria
77
Which arm of the complement pathway is implicated in the pathogenesis of systemic lupus erythematosus?
Classical
78
A 31 year old woman presents to their GP with tiredness and offensive smelling diarrhoea with no blood. Since the diarrhoea has started, she has complained of recurrent bouts of skin infections and food poisoning like symptoms.
She is anti-TTG and anti-endomysial antibody positive. A full STI screen is negative. FBC is unremarkable. Albumin and levels of IgA, IgG, IgE and IgM are very low.
What condition has her uncontrolled coeliac disease caused that has led to her functional immunosuppression?
Protein Losing Enteropathy
May be diagnosed by performing faecal alpha-1 antitrypsin levels
79
What is the most common inherited primary immunodeficiency?
Selective IgA deficiency (1 in 500)
80
What drug class does dolutegravir belong to?
Integrase inhibitor
81
What type of immune cell upon activation undergoes class switching and somatic hypermutation?
B lymphocytes
*This is before they turn into plasma cells
82
In what cell in the human body do Leishmania parasites multiply?
Macrophages
83
There is an outbreak of diarrhoea and vomiting on a cruise ship.
The onset of symptoms in affected individuals is sudden and lasts for a few days. Spread of the virus has not been abated despite the rigorous use of alcohol gel by patrons aboard.
Affected individuals have eaten different food prepared in different kitchens.
What is the likely pathogen responsible?
Norovirus
84
What is the recommended antibiotic prophylaxis for bites by either cat, dog or human in a patient with no known allergies?
Co-amoxiclav
85
Cancer of what organ is commonly associated with schistosomiasis infection?
Bladder
86
What is the transmission route of listeriosis?
Faecal oral route
87
What fungal antigen may be detected in blood samples in a patient with invasive aspergillosis?
Galactomannan
88
Features of severe or complicated malaria in children
* Respiratory distress or acidosis (may present with acidotic breathing)
* Hypoglycaemia (< 2.2 mmol/L)
* Severe anaemia
* Cerebral malaria (as above)
* Parasitaemia > 2% red blood cells parasitized
* Inability to stand or sit
89
Features of severe or complicated malaria in adults
* Shock
* Cerebral malaria — impaired conscious level (Glasgow coma score less than 11) or seizures
* Renal failure
* Haemoglobinuria — P. falciparum can cause severe haemolysis with dark red urine (‘blackwater fever’)
* Hypoglycaemia (< 2.2 mmol/L)
* Acidosis
* Sepsis — more common in pregnant women
* DIC
* Respiratory distress which may be due to pulmonary oedema or acute respiratory distress syndrome (ARDS) — common in pregnant women
* Parasitaemia > 10%
* Severe anaemia
90
What is the scientific name of the pork tapeworm?
Taenia Solium
91
How is Q fever typically diagnosed?
Serology
92
What viral protein is responsible for the virulence and tropism of SARS-CoV-2?
Spike protein
93
What is the first line antimicrobial for treatment of Lyme Disease?
Doxycycline
94
A pregnant woman at term (38+3) has her urine dipped which shows the presence of nitrites and leukocytes.
However, she denies any dysuria or other symptoms.
If indicated, what is the first line antibiotic for the treatment of this patient?
Cephalexin
Nitrofurantoin would be first-line but it is advised to be avoided at term. Amoxicillin is 2nd line but is subject to the availability of culture results
95
What is the appropriate treatment for Visceral Leishmaniasis?
Liposomal amphotericin B
96
What is the first line antibiotic for the treatment of a bacterial sore throat in a patient with no known allergies?
Phenoxymethylpenicillin
97
What class of antibiotics does ciprofloxacin belong to?
Fluoroquinolones
98
What class of antibiotics does doxycycline belong to?
Tetracycline
99
To what family of viruses does SARS-CoV-2 belong?
Coronaviridae
100
What is the treatment for human tapeworms in adults?
Praziquantel
101
A fine art student travels to New York, where he eats scrambled eggs.
12 hours later, he becomes unwell with profuse diarrhoea. There is no blood. He has diffuse abdominal pain with pain that comes and goes in waves.
What organism is likely responsible for his symptoms?
Salmonella enterica
Salmonella enterica is commonly associated with foodborne illness and can cause symptoms such as vomiting, diarrhea, and abdominal pain.
The consumption of undercooked eggs is a known risk factor for Salmonella enterica infection.
A possible differential is campylobacter, but this is typically associated with undercooked chicken and often produces bloody diarrhoea.
102
What antibiotic would you prescribe first line for an infective exacerbation of COPD with a suspected bacterial aetiology?
Amoxicillin
103
What is the primary infective lesion produced by Mycobacterium tuberculosis called in the lungs?
Gohn focus
104
What assay is currently used to identify if someone has previously been infected with SARS-CoV-2?
ELISA
105
What is the host protein required for entry of SARS-CoV-2 into human cells?
Angiotensin Converting Enzyme 2
106
What is the first line topical antibiotic for treatment of limited impetigo?
Fusidic acid
107
A 20 year old is seen by his GP 5 months after returning from his gap year in India.
He has been given several courses of antibiotics and steroids for a single, non healing ulcer approximately 2-3cm in diameter on his left ankle.
On examination, there is a 2-3cm painless, volcano-like lesion on his shin with raised indurated borders.
Blood tests including a full blood count are essentially unremarkable.
What is the likely diagnosis?
Cutaneous leishmaniasis
108
What antibiotic should be prescribed for a penicillin allergic, clinically stable patient with cellulitis?
Clarithromycin
109
What viral enzyme is inhibited by oseltamivir?
Neuraminidase
110
What is the vector for transmission of leishmaniasis?
Sandflies - protozoan disease which multiples in macrophages inside the body
111
A sputum sample is taken from a 56 year old patient suffering from treatment resistant asthma.
They have an elevated serum IgE level. Their symptoms responded very well to steroids but rapidly returned after cessation of steroids. The respiratory consultant suspects Allergic Bronchopulmonary Aspergillosis.
What is an appropriate histological stain to use on this sputum sample to identify the responsible organism?
Methenamine Silver Stain
112
A 58 year old gentleman is undergoing chemotherapy for multiple myeloma. As per safetynetting advice he has received, he presents to the Emergency Department feeling unwell. In triage, his temperature is 38.9c.
He describes a history of 2-3 days of nonspecific malaise, which he attributed to his chemotherapy last week. This morning, he awoke sweating with intermittent rigors. You take a full history and find that he has pain in his lower back, hip and his right knee, which has a visible, tender, effusion.
On examination, he is curled up in bed with the sheets over his head - he says he is cold. His neutrophil count is 21 (high).
As part of your neurological examination, you ask him to flex his hips fully, flex and then extend his knees. With difficulty, he is able to extend his left knee, but he cannot extend his right knee due to excruciating knee pain.
What condition explains the patient's symptoms?
Septic arthritis
113
What is the first line antimicrobial for treatment of gonorrhea?
Ceftriaxone (usually given IM)
114
A 15 year old swimmer present with a month long history of itching and scaling between the toes on his right foot.
On examination there is macerated skin between the 3rd and 4th toes on the right foot, associated with erythema and scaling.
What organism is most likely responsible for this presentation?
Trichophyton rubrum
Trichophyton rubrum is a common dermatophyte that causes athlete's foot, which presents with symptoms of itching, scaling, and erythema between the toes, especially in swimmers who are often in moist environments.
115
A 72 year old man with COPD and poorly controlled HIV presents to the emergency department following a severe episode of haemoptysis. He reports no other symptoms.
A high resolution CT scan reveals multiple large bullae and a large left upper lobe rounded mass surrounded by a crescent of air.
Serum galactomannan is positive.
What is the diagnosis?
Aspergilloma
116
What class of antibiotics does gentamicin belong to?
Aminoglycoside
117
In immunocompetent patients, what is the typical presentation of listeriosis?
Gastroenteritis
*In immunosuppressed patients, it can cause meningitis, encephalitis and sepsis
118
Which enzyme has reduced activity in Gilbert’s syndrome and is responsible for the elevated unconjugated billirubin levels?
UDP glucuronyl transferase
119
What medications are given in non-acute gout?
Allopurinol: inhibits the enzyme xanthine oxidase to reduce urate synthesis
Probenecid: increases fractional excretion of uric acid.
120
In general, what pH imbalance is associated with hypokalaemia?
Alkalosis
In general, low blood pH (acidaemia) is associated with increased plasma potassium concentration (hyperkalaemia), whereas high blood pH (alkalaemia) is associated with decreased plasma potassium concentration (hypokalaemia). The underlying mechanism for this is due to a hydrogen potassium transporter, which exchanges K+ ions for H+ ions on cell membranes. In hypokalaemia there is a low concentration of K+ ions in the blood. To compensate for the low K+, this transporter pumps K+ out of the cell into the blood in exchange for H+. The reduced H+ in the blood results in an alkalosis.
121
In sarcoidosis, production of which enzyme by granulomatous tissue can lead to hypercalcaemia?
1 alpha hydroxylase
*Cancers can produce PTHrp which also raise calcium levels
122
A 38 year old man with hypertension has high plasma sodium and low plasma potassium.
He is diagnosed with Conn’s syndrome.
What is the likely result of an Aldosterone:Renin ratio in this patient?
Elevated
123
You are handed the following VBG while working in the emergency department.
The patient has coeliac disease and is very unwell, with a blood pressure of 84/36. She describes a 3 day history of productive cough and fevers.
pH 7.21
BE -12
Na 131mmol/L
K 6mmol/L
Cl 109mmol/L
HCO3 12mmol/L
Glucose 3mmol/L
Lactate 2mmol/L
You are also given the urea (6mmol/L) and serum osmolarity which is 290mmol/L. Inflammatory markers are normal.
What condition is responsible for of her metabolic acidosis?
Addison's
She has a normal anion gap metabolic acidosis with low sodium and high potassium
124
What condition describes inadequate function of the proximal renal tubules of the kidney and is associated with glucosuria, hypophosphatemia and hyperuricosuria?
Fanconi syndrome
Fanconi syndrome (NB: Fanconi anaemia is something else) is an inherited or acquired condition where there is almost complete failure of the proximal convoluted tubule in the kidney to reabsorb molecules.
125
In bile acid synthesis Acyl-CoA cholesterol acyltransferase (ACAT) is the enzyme that converts cholesterol into what?
Cholesterol ester
126
What is the most potent pharmacological agent at reducing low density lipoprotein concentration in blood?
Evolocumab
127
A 26 year old man presents to his GP with a yellow nodule on his achilles tendon.
You notice a bluey grey ring around his cornea and yellow irregularly shaped deposits around his eyelids.
Low density lipoprotein (LDL) is raised whereas high density lipoprotein (HDL) and triglycerides are normal.
Genetic studies reveal a LDL receptor mutation.
What is the diagnosis?
Familial Hypercholesterolemia
128
Lomitapide is a low density lipoprotein lowering drug.
What protein does Lomitapide inhibit?
Microsomal triglyceride transfer protein
129
The van den Bergh reaction is used to measure serum bilirubin via fractionation. What kind of bilirubin is measured with the direct reaction?
Conjugated bilirubin
130
Which drug, used in the treatment of acute gout to reduce inflammation, acts by inhibiting polymerisation of tubulin to reduce motility of neutrophils?
Colchicine
131
A patient is hypocalcaemic, has an elevated serum phosphate and has an elevated parathyroid hormone (PTH).
Upon examination you notice they have short 4th and 5th metacarpals.
What is the most likely diagnosis?
Pseudohypoparathyroidism
The endocrinologist Fuller Albright was first to suggest pseudohypoparathyroidism results from an inherited resistance to PTH. He also identified the characteristic phenotypic appearance amongst these patients which includes short 4th and 5th metacarpals, obesity and rounded facies. This syndrome is now known as Albright hereditary osteodystrophy.
132
A 29 year old man presents with eruptive xanthomas and a yellow discolouration to the palm.
Blood tests reveal high total cholesterol and triglyceride levels. Genetic studies reveal ApoE2 present.
What is the diagnosis?
Type 3 hyperlipoproteinemia
133
What is the most common joint to be affected in acute gout?
1st metatarsophalangeal
134
Which protein, found in blood plasma, exchanges triglycerides and cholesterol esters between lipoproteins?
Cholesteryl ester transfer protein (CETP)
135
A 9 year old boy presents to the GP with enlarged orange coloured tonsils.
Examination elicits a peripheral neuropathy and blood tests show very low plasma HDL levels.
What is the most likely diagnosis?
Tangier disease
Mutations in the ABCA1 gene.
This prevents the release of cholesterol and lipids from cells which results in them accumulating in certain organs.
This may present as hepatomegaly, splenomegaly, or classically as enlarged orange tonsils in children.
The condition is characterised by low HDL levels in the blood conferring an increased risk of cardiovascular disease.
136
Which term is used to describe increased bone density?
Osteosclerosis
137
What is the gold standard investigation for quantification of urinary protein loss, not typically performed in clinical practice?
24 hour urinary collection
138
A 14 month old boy presents showing signs of delayed motor development and self-mutilation of the lips and fingers. He is found to have hyperuricaemia.
What enzyme is deficient in this condition?
HGPRT
This is Lesch Nyhan syndrome
139
What are the causes of fanconi syndrome?
What are signs and symptoms of fanconi syndrome?
Causes (there are many, but for exams these are classical):
Congenital
Wilson's disease (To be even more unhelpful, Wilson's is also associated with Type 1 Renal Tubular Acidosis)
Tetracyclines
Multiple Myeloma
Lead poisoning
Symptoms + Signs:
Polyuria, polydipsia and dehydration (due to glucosuria)
Growth failure (in children)
Metabolic acidosis (Type 2 Renal Tubular Acidosis)
Hypokalaemia
Proteinuria
Hyperuricosuria
Treatment is supportive
140
Where in the nephron is the majority of bicarbonate reabsorbed?
Proximal convoluted tubule
*Think type 2 renal tubular acidosis
141
A patient with end stage renal failure is brought into the emergency department unresponsive after missing three dialysis sessions.
Their ECG shows a very broad complex tachycardia. The team are unable to record a blood pressure. The medical student comments the ECG trace "almost looks like a sine wave".
What is the likely electrolyte abnormality explaining this presentation?
Hyperkalaemia
Typical ECG changes in hyperkalaemia include tall peaked (tented) T waves, a shortened QT interval or loss of P waves.
142
What family of enzymes in the gut does Orlistat inhibit?
Lipase
143
A 43 year old lady with Type II Diabetes and previous suicidal ideation presents to A&E confused and drowsy. She is fluctuating in and out of consciousness.
She appears sweaty and is shaking.
Her blood sugar is 1.3 mmol/L.
She has high levels of insulin and a high C-peptide level.
What investigation should be performed to exclude a factitious hypoglycaemia?
Blood sulfonylurea levels
Hypoglycaemia with high insulin and low C-peptide suggests an exogenous source of insulin. This may be in a type 1 diabetic or from surreptitious use of insulin.
Hypoglycaemia with high insulin and high C-peptide suggests an endogenous source of insulin. Causes include insulinoma and inborn errors of metabolism. Sulfonylureas, used to lower blood sugar in type 2 diabetes, may also cause hypoglycaemia with high C-peptide due to increased release of endogenously produced insulin.
Factitious hypoglycaemia may be caused by surreptitious use of insulin or sulfonylureas. A Sulfonylurea screen is useful in distinguishing an insulin-secreting tumour from surreptitious sulfonylurea ingestion.
144
ApoE4 classically gives an increased risk of developing which neurodegenerative condition?
Alzheimer's
145
What class of drug must not be co-administered with azathioprine in individuals with TPMT deficiency, else a potentially fatal buildup of toxic metabolites may occur?
Xanthine oxidase inhibitors like allupurinol
146
You are handed the following VBG while working in the acute medical unit.
The patient has type 1 diabetes. She was admitted yesterday due to DKA, however you have been asked to review her due to a worsening of her VBG.
Her previous VBG 6 hours ago showed a pH of 7.34. She has a positive fluid balance of +5L in the last 24 hours.
VBG taken now
pH 7.30
BE -4
Na 145mmol/L
K 4mmol/L
Cl 113mmol/L
HCO3 22mmol/L
Glucose 8mmol/L
Lactate 1mmol/L
You are also given the urea (6mmol/L) and serum osmolarity which is 316mmol/L. Ketones are 0.1mmol/L.
Administration of what drug is likely to explain her worsening metabolic acidosis?
0.9% Sodium chloride
147
Which enzyme forms the rate limiting step in de novo purine synthesis?
Phosphoribosyl pyrophosphate amidotransferase (PAT)
148
A 24 year old lady is referred to a cardiologist.
She has irregular yellow growths on her hands and one on her achilles tendon.
The cardiologist informs her she has premature atherosclerosis.
Blood tests show grossly raised levels of plant sterol in her blood.
Which autosomal recessive disorder does she most likely have?
Phytosterolemia
149
A 36 year old man with Wilson's disease is noted to be hypokalaemic on routine bloods performed at his GP.
He denies any nausea, vomiting or diarrhoea. His oral intake is normal for him and he doesn't feel he is losing weight. He does not drink any alcohol. He is on no regular medications.
A urine dip is normal.
What condition is associated with Wilson's disease which may cause hypokalaemia?
Renal tubular acidosis
150
A patient presents to A&E with a red swollen joint at the base of their big toe. They say it is exquisitely painful. Following arthrocentesis, microscopy shows needle shaped crystals. Under polarised light, what colour would you expect these needle shaped crystals to appear when parallel to a red filter?
Orange
Monosodium urate crystals are negatively birefringent which means under polarised light they appear orange when parallel to a red light filter and blue when perpendicular. This allows them to be differentiated from calcium pyrophosphate crystals of pseudogout which show positive birefringence.
151
What is the treatment for pancreatic cancer?
Curative intent: Whipple's procedure
Non-resectable: folfirinox (palliative chemotherapy)
152
A 60 year old man has suffered from atrial fibrillation since his early 30s. He has undergone multiple failed cardioversions, the most recent of which was 10 years ago. Since then his symptoms have been well controlled with bisoprolol 10mg OD. His heart sounds are normal.
He says he has had high blood pressure for "years".
His ECG is normal other than an irregularly irregular rhythm and large, bifid p waves.
What is the most likely abnormality that will be found on his echocardiogram to explain his permanent atrial fibrillation and poor success at cardioversion?
Dilated left atrium
153
What further imaging is indicated for a confirmed transient ischaemic attack of the anterior circulation when neurological symptoms have resolved?
Carotid ultrasound - to consider for carotid endarterectomy
154
Which histological subtype of malignancy are patients with poorly controlled ulcerative colitis at increased risk for?
Adenocarcinoma
155
A CT report for a 74 year old gentleman with shortness of breath and a dry cough mentions the presence of "a honeycomb lung".
What condition does the gentleman likely have?
Interstitial lung disease (pulmonary fibrosis)
156
A 32 year old breastfeeding woman presents to her GP with a sore, inflamed left breast. She reports symptoms are worsening. She feels unwell.
Her temperature is 38.5c. She is not tachycardic.
On examination there is a diffusely tender left breast with a firm, fluctuant mass located 2cm medial to the nipple. It is approximately 1cm in size. There is no nipple retraction.
What is the diagnosis?
Breast abscess
157
A 18 year old man has his urine dipped as part of a pre employment health check.
He has no past medical history and denies any symptoms.
The urine dip shows the presence of microscopic haematuria (+). He says that his father also always has blood in his urine.
What is the likely diagnosis?
Benign familial haematuria (thin basement membrane disease)
158
What is the most common solid organ cancer in men?
Prostate cancer
159
What is the most common solid organ cancer in men?
Prostate cancer
160
Which lobe of the brain does HSV encephalitis classically affect?
Temporal lobe
161
What is the first line investigation for pancreatic cancer?
CT abdomen
162
What is the main hormone produced by delta cells in the pancreas?
Somatostatin - exhibits a paracrine effect on alpha and beta cells, reducing secretion of glucagon and insulin
163
A 83 year old man is started on bicalutamide for treatment of his metastatic prostate cancer.
What is the method of action of bicalutamide?
Androgen antagonist
164
What is the first line chemotherapy drug for treating prostate cancer in the UK?
Docetaxel
165
A 18 year old woman was stabbed in the groin at a party. Arterial blood flow was observed from the wound on scene. Haemostasis was achieved by bystanders.
She was stabilised on scene and transferred to hospital by air ambulance.
She lost an estimated 6 units of blood, however the air ambulance transfused one unit on scene and bolused two litres of 0.9% sodium chloride.
You perform an A-E assessment in the emergency department 30 minutes later. She is unconscious but tachypneic. You note the presence of a new, soft, systolic murmur.
Given the history, what type of murmur is this likely to be?
Flow murmur
Flow murmurs are typically soft, systolic murmurs heard best at the left lower sternal edge.
They are often found in hyperdynamic circulations - pregnancy, anaemia or severe blood loss.
166
What condition is the presence of waxy casts in urine associated with?
Chronic kidney disease
These casts are formed from the breakdown of kidney tissue and indicate severe damage to the renal tubules.
167
What is the preferred surgical option for treating prostate cancer?
Radical prostatectomy
168
Schistosomiasis infection predisposes to what urological malignancy?
Squamous Cell Carcinoma
169
What structures, present in the large bowel, represent weak points in the bowel wall and allow for the formation of diverticula?
Taenia coli
170
Kimmelstiel Wilson nodules found in a renal biopsy are associated with what underlying disease?
Diabetes
171
A renal biopsy is performed on a 34 year old man with significant proteinuria. He is known to have Chronic Hepatitis B.
The biopsy reads: "Thickened basement membrane with spike and dome appearance due to electron dense deposits in the subepithelial layer"
What is the likely diagnosis?
Membranous glomerulonephritis
172
What is the commonest cause of oesophagitis in UK adults over 50?
Gastro oesophageal reflux disease
173
Other than zinc, what is the first line pharmacological treatment for Wilson's disease?
Trientine
174
A 55 year old gentleman with newly diagnosed bipolar disorder is seen by a psychiatrist. An ECG is performed as part of the workup for starting lithium, a mood stabiliser.
His past medical history includes an anterior STEMI 4 months ago.
The ECG shows ST elevation in leads V2, V3, V4 and V5. He denies chest pain, breathlessness or any other symptoms.
What is the diagnosis?
Ventricular aneurysm
Persistent ST elevation post myocardial infarction in the absence of chest pain or other ischaemic features is suggestive of the development of a ventricular aneurysm.
These patients are at high risk of ventricular free wall rupture and subsequent death.
175
A 83 year old woman was admitted to hospital for a severe chest infection. At the time of admission, her CURB-65 was 4. Her blood pressure was 80/40
She was diagnosed as having an acute kidney injury.
What is the likely cause of the AKI?
Acute tubular necrosis
176
What is the most common cancer in the UK?
Breast cancer
177
What is the most common cause of acute interstitial nephritis?
Drugs (including medication)
178
A 32 year old man presents to the emergency department with cola coloured urine.
He denies pain or fever. He has had a sore throat for the past five days. He has no other medical history of note and this has not happened before.
He also has a non-blanching rash over his legs.
What is the likely cause of the nephritic syndrome?
IgA nephropathy
179
The ECG leads V1 and V2 represent which specific region of the heart?
Septal region
180
A 45 year old man presents to their GP with a chronic cough and mild breathlessness on exertion. He has a 60 pack year history of smoking. Spirometry reveals an obstructive picture with FEV1 75% of predicted. There is no association with time of day or seasonality.
What is the most likely diagnosis?
COPD
181
An autopsy of an 18 year old boy in Africa reveals the following histopathological findings
"Deforming fibrosis of the mitral, and to a lesser extent aortic valves are seen. The valvular leaflets are thickened and have retracted, suggesting stenosis"
What is the likely causative organism?
Group A Streptococcus
182
Which neuroendocrine tumour is associated with Zollinger-Ellison syndrome?
Gastrinoma
183
Which common medication are hepatic adenomas associated with?
Combined oral contraceptive pill
184
A histopathologist looks at a piece of excised lung tumour under a microscope.
She notes the presence of mucin and glandular differentiation.
Which histological subtype of lung cancer is associated with mucin production?
Adenocarcinoma
185
What type of vaccine uses injection of preformed antigenic proteins to induce immunity?
Subunit
186
What monoclonal antibody targets the IL-6 receptor and is involved in the treatment of rheumatoid arthritis?
Tocilizumb
187
A 3 year old girl with Turner's syndrome has recurrent chest infections. On examination, she has no visible tonsilar tissue. Blood tests reveal a low lymphocyte count, with very low B cells but normal T cell levels. There is very low levels of IgM, IgA and IgG. What primary immunodeficiency is this patient likely to have?
Bruton's agammaglobulinaemia
*There is a notable lack of lymphoid tissue (lack of tonsils and adenoids) or lack of lymphadenopathy during infections
188
What lymphocyte lineage does cyclophosphamide predominantly inhibit?
B lymphocytes
189
Infliximab, adalimumab, certolizumab and golimumab target what cytokine?
Tumour necrosis factor alpha
190
What is the name given to a substance that increases the effectiveness of an immune response to a vaccination without altering the specificity of the response?
Adjuvant
191
Immunoglobulins may bind to multiple pathogens at once in order to enhance phagocytosis.
What is this process known as?
Agglutination
192
What is opsonisation?
As a result of antibodies binding to the surface of a pathogen, an otherwise undigestable pathogen is allowed to be phagocytosed.
193
A 34 year old man has severe Crohn's disease. His gastroenterologist wishes to start an anti-TNF drug to see if it controls his symptoms better. What first-line test should the patient undergo before starting adalimumab?
Mantoux test
194
CD3 is typically a marker of what immune cell?
T lymphocytes
195
Immunoglobulins may bind to cell surface receptors on viruses, to prevent viral binding and entry of human cells.
What is this function of immunoglobins known as?
Neutralisation
196
What is the full chromosomal abnormality found in DiGeorge syndrome?
22q11.2 deletion
197
What is the name given to the immunological process that must have occurred prior to a hyperacute transplant rejection?
Sensitisation
Immunological process where, after being exposed to an antigen, an immune response is generated against the antigen.
Typically the first exposure will have no symptoms, but the second exposure results in a vigorous response.
198
What HIV protein is involved in initial binding to CD4?
gp120
199
An arterial biopsy of a patient with a suspected arteritis reveals a "rosary bead" appearance of small aneurysms.
What vasculitis is associated with this clinical sign?
Polyarteritis Nodosa - also associated with hepatitis B infection
200
CD14 is typically a marker of what type of immune cell?
Macrophages
CD14 recognises the bacterial endotoxin lipopolysaccharide (LPS)
201
What is the autoantibody found in myasthenia gravis?
Anti-acetylcholine receptor antibody
202
A severe asthmatic presents to their GP for the third time in three years complaining of blocked sinuses. However, over the last 6 months, she has also had unintentional weight loss and reports intermittent fevers. She also has an indistinct erythematous macular rash on both her ankles.
A Full Blood Count reveals an eosinophilia (>10% of white blood cells).
What rare immunological condition may be responsible for her symptoms?
Eosinophilic Granulomatosis with Polyangiitis aka Churg Strauss syndrome
203
Which type of immunoglobulin is primarily secreted into breast milk and is responsible for passive immunity in newborns?
IgA
204
A nurse calls you over on the ward as a 5 year old girl is beginning to scratch at her arms. The nurse says she was started on a blood transfusion 30 minutes ago. Before this the patient was clinically well.
What is the treatment for this complication of blood transfusion?
Antihistamine
205
A 13 year old girl is diagnosed with type 1 diabetes mellitus following hospital admission for diabetic ketoacidosis.
Her thyroid function and liver function tests are normal.
What other autoimmune disease should she be screened for on this admission?
Coeliac disease
206
A 75 year old gentleman presents to his GP with recurrent nosebleeds and coughing blood. He now has bloody urine. He has felt generally unwell for a while, but puts this down to his family visiting him less. He has lost weight and reports some loss of sensation in his hands and feet. He is concerned he may have a bleeding problem. His temperature is 38C and CRP is elevated.
Urine dip is positive for protein and blood.
The patient is negative for anti-GBM antibodies.
Results of kidney function tests are given below:
Urea Elevated
Creatinine Elevated
eGFR 40 (normal >90)
A previous blood test performed three weeks ago was normal and an eGFR at that time was 80ml.
What underlying immunological condition may this gentleman have?
Granulomatosis with Polyangitis
207
A depressed 40 year old vegan presents to their GP with progressive tiredness. She is on treatment for Hashimoto's thyroiditis and has daily multivitamin supplementation. Her sister is also hypothyroid.
A routine blood panel reveals a macrocytic anaemia. Serum B12 levels are low.
What is the most likely cause of the low B12?
Pernicious anaemia
208
Which interleukins are classically responsible for inducing fever?
IL1 and IL6
209
Electrophoresis of CSF for a 23 year old patient with nonspecific neurological symptoms, tiredness and weight loss reveals the presence of oligoclonal bands of IgG. What autoimmune condition is this highly suggestive of?
Multiple sclerosis
210
What HLA allele is associated with Systemic Lupus Erythematosus?
HLA-DR3
211
What specific malignancy are people with Sjogren's syndrome at greater risk of?
Mucosa Associated Lymphoid Tissue Lymphoma
212
A 70 year old gentleman is referred to the nephrologists for worsening kidney failure and haematuria. Over the last 3 months, he has lost 20% of his body weight, reports intermittent fevers and joint aches. He is also seeing his GP as he recently started coughing blood.
What underlying immunological condition may this patient have?
Goodpasture's disease
Type 2 hypersensitivity reaction with antibodies directed against type IV collagen.
Type IV collagen is a major component of the kidney and lung basement membranes.
It may present with constitutional symptoms of autoimmune disease, in addition to glomerulonephritis and lung haemorrhage.
213
The family of a 13 year old boy with a known latex allergy have kept a food diary after they noticed some foods make his skin itchy. They noticed that bananas, potatoes, tomatoes and mangos may precipitate an outbreak. What specific allergic condition does he suffer from?
Latex food syndrome
214
What specific class of antiretroviral medication does abacavir belong to?
Nucleoside Reverse Transcriptase Inhibitors
215
A 78 year old gentleman visits his GP. He complains of double vision when reading newspapers in the evenings or when walking his dog late at night. He also reports generalised tiredness and says he struggles to carry his shopping to the car.
He has longstanding well controlled Type 1 Diabetes. On questioning, his sister has coeliac disease.
What is the diagnosis?
Myasthenia Gravis
216
What primary immunodeficiency is suggested in a patient with recurrent infections with E Coli, Staphylococcus Aureus, Listeria spp, Klebiella spp, Serratia marcescens and Candida species?
Chronic gramulomatous disease
217
What monoclonal antibody targets CD25 and is used in the prophylaxis and treatment of allograft rejection?
Basiliximab
218
A 74 year old woman is seen following blood tests done for monitoring of pernicious anaemia.
Her blood tests show a Hb 132 (normal), MCV 92 (normal), Plts 89 (low), WCC 8 (normal). B12 and folate were normal. LFTs were normal.
She is tested for HIV (-ve) and Hepatitis B (HbSAg -ve).
Her GP sends a blood film and a repeat full blood count, which was normal other than thrombocytopenia.
What is the likely cause of her thrombocytopenia?
Immune thrombocytopenic purpura
219
What is the term given to describe the transformation of chronic lymphocytic leukaemia into a high grade lymphoma?
Richter's Transformation
220
What medication can be given prophylactically to reduce the risk of tumour lysis syndrome in patients undergoing chemotherapy for haematological malignancies?
Rasburicase
221
What is the reversal agent for dabigatran?
Idarucizumab
222
A 5 year old child is seen by haematolgist due to worsening neutropenia identified after a recent hospitalisation requiring ITU admission for sepsis, for which he has since recovered.
He has been under the care of the gastroenterology team for the last year, where he has been investigated for failure to thrive and diarrhoea. Coeliac and inflammatory bowel screens were negative. The gastroenterologists are treating him with CREON for pancreatic exocrine dysfunction. The gastroenterologists suspect a congenital issue, however, he had a normal chloride sweat test.
Most recent blood tests available to the haematologist show a profound neutropenia. The haematologist listens to his lung bases and notes that the chest wall appears misshapen.
What is the haematological diagnosis which explains all the patient's symptoms?
Shwachman Diamond syndrome
223
An 18 year old presents to their GP with a neck lump.
It is approximately 3.5cm, mobile and untethered in the posterior triangle of the neck.
On further questioning, he reports weight loss and drenching night sweats.
A blood film showed the presence of multinucleated and reactive lymphocytes.
What is the most likely diagnosis?
Hodgkin's lymphoma
224
Give an example of a chemotherapy drug which inhibits BCL2 and hence increases lymphocyte apoptosis in CLL.
Venotoclax
225
What drug should be given urgently to a patient on LMWH therapy who has significant, life threatening bleeding?
Protamine sulphate
226
A 1 month old child is investigated for the cause of a macrocytic anaemia, identified during routine workup for surgery for treatment of her cleft palate. She is noted to be quite underweight. Her brother has suffered from similar issues.
Vitamin B12 and folate levels were normal. Haemoglobin electrophoresis showed elevated fetal haemoglobin, but no other abnormalities. Her reticulocyte count was low.
What is the most likely underlying diagnosis?
Diamond-Blackfan anaemia
227
A medical student is unsure about what cell she is looking at under the microscope. She is looking a peripheral blood film.
She describes a cell that is nearly completely dark purple, except for a thin rim of slightly blue stained cytoplasm. It's roughly the same size as red blood cells.
What cell is she describing?
Lymphocyte
228
What enzyme is inhibited by warfarin and leads to a reduction in clotting factors II, VII, IX and X?
Vitamin K epoxide reductase
229
A patient is diagnosed with hodgkin's lymphoma.
What is the appropriate imaging modality for staging?
PET-CT
230
To what phylum do the organisms Leptospira spp, Borrelia spp, Treponema spp and Brachypsira spp belong?
Spirochaetes
231
What antimicrobial is first line for severe, widespread fungal nail infection in a an elderly patient with no known allergies?
Recent bloods including FBC, U&Es, LFTs and TFTs were all normal.
Terbinafine
Terbinafine is the best answer because it has a high cure rate for severe, widespread fungal nail infections and has minimal side effects compared to other antifungal medications. It is also safe to use in elderly patients with normal blood test results and no known allergies.
232
What is the gold standard diagnostic test for Leishmaniasis?
Splenic aspirate
233
What is the scientific name of the beef tapeworm?
Taenia saginata
234
A 50 year old woman is seen by her GP with 3 days of mild headache, sneezing and coughing. She also has a sore throat. She takes ramipril for hypertension but has no other past medical history.
On examination her chest is clear, there is no cervical lymphadenopathy and no visible exudate on the tonsils.
What is the likely responsible organism?
Rhinovirus
235
A 73-year-old immunocompromised man presents to the Emergency Department with a 3-day history of fever, dry cough, muscle ache and severe headache. There is no sign of meningism. Respiratory and cardiovascular exam is normal.
A rapid flu swab is positive for Influenza A and RT-PCR for SARS-CoV-2 on a NP swab was negative.
What antiviral drug may be indicated for this patient?
Oseltamivir
236
What organism is responsible for the sexually transmitted infection Chancroid, which causes multiple painful ulcers.
Haemophilus ducreyi
237
A 20 year old white man presents to their GP having noticed the development of a rash on his back over the last few months. He reports no symptoms from it.
On examination, there are scaly areas of hypopigmentation across the back. There is no evidence of erythema or excoriation.
Under Wood's Lamp, the patch fluoresces a very faint orange colour.
What is the likely diagnosis?
Pityriasis versicolor
238
A 20 year old white man presents to their GP having noticed the development of a rash on his back over the last few months. He reports no symptoms from it.
On examination, there are scaly areas of hypopigmentation across the back. There is no evidence of erythema or excoriation.
Under Wood's Lamp, the patch fluoresces a very faint orange colour.
What is the likely diagnosis?
Pityriasis versicolor
239
A 38 year old woman suddenly feels unwell and develops severe vomiting.
She last ate some chicken around 2 hours ago that she thought was undercooked.
What is the likely responsible pathogen?
Staphylococcus aureus
Staphylococcus aureus is the likely responsible pathogen because it is commonly found in undercooked chicken and can cause food poisoning symptoms such as vomiting. It is also a fast-acting pathogen, which would explain the sudden onset of symptoms.
240
What is the full scientific name of the organism responsible for syphillis?
Treponema pallidum
241
What gram positive organism is associated with tumbling motility and rockets?
Listeria monocytogenes
242
Give an example of a beta haemolytic Streptoccoccus
Streptococcus agalactiae
243
What antiviral drug is typically given prophylactically to patients undergoing allogenic stem cell transplantation to protect against CMV infection?
Gancyclovir
244
What is the first line antibiotic for the treatment of sinusitis in a systemically well patient with no known allergies, assuming there has been no improvement of symptoms for at least 10 days?
Phenoxymethylpenicillin
245
A 34 year old music producer is seen in the acute medical unit.
His GP sent him for review after blood tests for persistent fatigue revealed a normocytic anaemia with a haemoglobin of 84g/L.
He reports traveling back from Brazil three weeks prior, where he delivered school supplies to a rural preschool. He states he was compliant with all the travel advice and vaccinations offered in the UK before he left.
He also says he has been sleeping poorly since arriving back in the UK, as he finds it uncomfortable to lay on his left side.
On examination there is clear splenomegaly. A blood film is unremarkable. Thick blood film for malarial parasites is negative.
What is the likely diagnosis?
Visceral leishmaniasis
246
A 18 year old university student presents to her GP feeling after feeling very tired for the last 5 days. She has been sleeping 16 hours a day and reports a sore throat.
She is asking for some antibiotics so that she can start work on her first university assignment.
On examination she has cervical lymphadenopathy with a temperature of 38.1.
What is the likely diagnosis?
Infectious mononucleosis
247
A 30 year old gentleman develops severe nausea and diarrhoea after reheating rice based food in the microwave.
What organism is likely to be responsible for these symptoms?
Bacillus cereus
248
A patient with chronic kidney disease (CKD) has low calcium and raised phosphate. PTH levels are found to be high. What kind of hyperparathyroidism does this patient have?
Secondary hyperparathyroidism
249
In familial hypocalciuric hypercalcaemia (FHH), which receptor has suffered a mutation?
Calcium sensing receptor
250
What vitamin converts cyanide to a renally cleared, less toxic, metabolite and is the first line medication for cyanide poisoning?
Hydroxocobalamin
251
A 24 year old gentleman is brought into hospital by ambulance. He was recovered by firefighters from a house fire. He has a reduced GCS (M6 V4 E4) and is confused. He has no visible burns and there is no obvious airway oedema. However, he has a cough productive of black sputum.
He is complaining about a severe headache and a bitter almond taste in his mouth.
Observations reveal he is tachycardic and hypertensive. An ECG shows first degree AV block.
What chemical compound is responsible for his symptoms?
Cyanide
Cyanide is the best answer because the symptoms described (confusion, coughing up black sputum, bitter almond taste, tachycardia, hypertension, and first degree AV block) are consistent with cyanide poisoning, which can occur from inhalation of smoke from a house fire.
Household plastics or rubbers when burnt often release cyanide, the likely source of this chemical in this scenario.
252
Purines can be made via a de novo synthesis pathway.
What is the name of the other pathway by which purines can be made?
Salvage pathway
253
Phytosterolemia (Sitosterolemia) is a disorder characterised by raised levels of plant sterol in the blood.
Name a gene which undergoes a mutation causing this disorder?
ABCG5
254
What is the term used to describe small, tube shaped microscopic particles found in urine?
Urinary casts
255
What is the most common cause of chronic kidney disease in the UK?
Diabetes
256
A CT-KUB from a patient with renal colic reveals the presence of a radiopaque, laminated density which conforms to the shape of the renal pelvis.
There is evidence of dilation of the renal calyces.
What is the typical chemical composition of this density?
Magnesium ammonium phosphate
257
What histological type of bladder cancer is most common?
Transitional cell carcinoma
258
A 70 year old man presents to his GP reporting dysuria and increased urinary frequency. He is given 7 days of oral nitrofurantoin by his GP.
At the same appointment, he has his annual routine yearly bloods taken.
His Prostate Specific Antigen (PSA) is raised at 3x the upper limit of normal.
The GP performs a DRE which is normal.
What is the most appropriate action regarding his elevated PSA?
Repeat in 2 weeks
259
What condition is the presence of fatty casts in urine associated with?
Nephrotic syndrome
260
What type of kidney stone are patients on chemotherapy for chronic lymphocytic lymphoma at increased risk of?
Uric acid
261
What monoclonal antibody therapy targets human epidermal growth factor receptor 2 and is used in the treatment of breast cancer?
Trastuzumab
262
What protein is defective in adult polycystic kidney disease?
Polycystin-1
263
What kind of cancer is associated with keratin pearls?
Squamous cell carcinoma
264
What is the most common histological type of renal malignancy?
Renal cell carcinoma
265
Classically the triad of bronchoconstriction, flushing and diarrhoea is described as what paraneoplastic syndrome?
Carcinoid syndrome
266
What surgical procedure may be used to treat pancreatic cancer affecting the head, neck and body of the pancreas?
Whipple's procedure
267
What sign describes painless jaundice in the presence of a palpable gallbladder?
Courvoisier's sign
268
Which strain of Escheriscia coli is classically associated with haemolytic uraemic syndrome in children who have spent time around farmyard animals?
E. coli 0157:H7
269
What is the most common histochemical stain used to visualise cells for light microscopy, such as that used for diagnosis of cancers?
Haematoxylin and eosin stain
270
What is the typical inheritance pattern of Maturity Onset Diabetes of the Young (MODY)?
Autosomal dominant
271
Damage to what muscle within the heart may result in mitral regurgitation?
Papillary muscle
272
Which hepatobiliary condition may be described as: fibrosis of bile ducts throughout the biliary tree with associated stricture formation?
Primary sclerosing cholangitis
273
A 55-year-old man presents to his GP with a chronic productive cough of 6 months duration. He has had mild weight loss. He has had two hospitalisations for pneumonia in the last two years.
Spirometry in the practice was normal. Chest x ray was normal.
High resolution CT scan reveals bronchial wall thickening with a positive signet ring sign.
What is the diagnosis?
Bronchiectasis
274
A 54 year old gentleman with type 2 diabetes mellitus presents to his GP. He reports seeing blood in his urine. In addition, he has felt feverish and tired for a few weeks. He has no night sweats or weight loss and there is no family history of any medical problems.
Physical examination revealed an ejection systolic murmur and a palpable mass in the left upper quadrant of the abdomen.
Blood tests showed an elevated CRP with a normal haemoglobin.
Results of the urine dip are below:
Blood ++
Proteinuria ++
What is the cause of this constellation of symptoms?
Infective endocarditis
The presence of an ejection systolic murmur and a palpable mass in the left upper quadrant of the abdomen, along with elevated CRP and blood and proteinuria in the urine dip, suggest that the patient may have infective endocarditis, an infection of the heart valve that can cause systemic symptoms and lead to emboli, including renal emboli causing blood and protein in the urine.
275
Which hepatobiliary pathology is associated with the finding of "beading" of bile ducts during an endoscopic retrograde cholangiopancreatogram (ERCP)?
Primary sclerosing cholangitis
276
What sign, which may be visible around the nails, is seen in Graves' disease and is due to periosteal bone growth in the nail bed?
Thyroid acropachy
277
Which enzyme, released by neutrophils, does the compound alpha-1 antitrypsin inhibit to prevent the development of emphysema in the lungs?
Neutrophil elastase
278
A 75 year old woman notices an itchy, maculopapular area of erythema around her right nipple.
What condition is associated with this clinical sign?
Breast cancer
Paget's disease of breast (eczema of nipple then areola)
Peau d'orange (oedema + pitting of breast)
279
An 84 year old Asian woman presented to the ED with chest pain of 10 hours duration, which began while watching television. The pain was 9/10 and did not radiate. She reported being under extreme stress since the death of her 50 year old son a week ago.
An ECG revealed ST elevation in V2 and V3. Chest X ray was normal. Troponin and electrolytes were normal. Percutaneous Coronary Intervention was unremarkable with no occlusions and no evidence of atherosclerotic disease.
An echocardiogram showed apical akinesis with an ejection fraction of 36%. There was hypertrophy of the interventricular septum.
What is the diagnosis?
Takotsubo's Cardiomyopathy
It presents with similar symptoms to a heart attack, including chest pain and ST elevation on ECG, but is triggered by emotional stress rather than atherosclerotic disease, and is characterized by apical akinesis and ventricular dysfunction on echocardiogram.
Coronary arteries are usually unobstructed if an angiogram is performed.
280
What condition is the presence of granular ("muddy brown") casts seen in the urine associated with?
Acute tubular necrosis
These casts are made up of dead cells and debris from the damaged kidney tubules.
281
What type of bladder cancer is associated with chronic cystitis?
Squamous cell carcinoma
282
A 16 year old body is investigated for liver failure. He has markedly increased transaminases.
His mother, aunt and grandmother are all smokers and have COPD.
Blood tests show a low serum copper and low serum caeruloplasmin.
What is the likely diagnosis?
Wilson's disease
283
A 20-year-old man with cystic fibrosis presents to his GP with a chronic productive cough, that has been getting worse over the last two years. He is known to be colonised with pseudomonas aeruginosa.
His BMI is 18.5. Temperature in the surgery was 36.8c.
Examination revealed coarse crackles at the bases which shifted upon coughing.
Chest x ray was reported as showing tram-track opacities.
What is the diagnosis?
Bronchiectasis
284
Aschoff bodies found in the heart of a patient who has died of acute heart failure suggests what causative diagnosis?
Acute Rheumatic Fever
Aschoff bodies are characteristic histological findings in patients with acute rheumatic fever, which can lead to acute heart failure due to inflammation and damage to the heart valves. Therefore, the presence of Aschoff bodies in the heart of a deceased patient strongly suggests acute rheumatic fever as the causative diagnosis.
285
What condition is the presence of epithelial casts in urine associated with?
Acute Tubular Necrosis
286
Which protein, detected in the stool of patients with inflammatory bowel disease, reflects the presence of intraluminal neutrophils and hence the presence of intestinal inflammation?
Calprotectin
287
In which liver condition will cytoplasmic Mallory Denk Bodies most commonly be found on biopsy?
Alcohol hepatitis
288
A biopsy specimen from the gastric antrum of a patient is reported as showing evidence of acute gastritis.
What cell of the immune system is found disproportionately in biopsies of acute gastritis?
Neutrophils
289
A 64 year old lady with osteoarthritis of the hip presents to her GP reporting fevers and bilateral joint pain. She suffers from heart failure and gout. She thinks her symptoms started after a recent course of amoxicillin for a chest infection. Her usual medications are furosemide, naproxen, omeprazole and allopurinol.
Blood tests show a Stage 1 AKI and mild eosinophilia. Her blood pressure is 142/90 and her urine dip shows leucocytes +1.
Urine microscopy shows the presence of white cell casts.
What is the likely underlying diagnosis?
Acute interstitial nephritis
The presence of white cell casts in the urine along with eosinophilia and recent antibiotic use suggests acute interstitial nephritis as the likely underlying diagnosis.
290
A 73 year old man presents to his GP with progressive exertional dyspnoea and a dry cough.
On examination there is bilateral digital clubbing and fine end inspiratory crackles on auscultation of the chest.
Chest X ray is normal and spirometry reveals a decreased FEV1, decreased FVC and increased FEV1/FVC ratio.
What specific further investigation would be diagnostic?
High resolution Lung CT Head
It will show honeycombing and ground glass opacities.
291
Staghorn calculi are typically formed when there is the presence of certain pathogenic bacteria.
Which enzyme, produced by these bacteria, is responsible for the formation of staghorn calculi?
Urease
292
What is the strongest risk factor for developing small cell lung cancer?
Smoking
293
What is the most common paraneoplastic syndrome associated with Small Cell Lung Cancer?
SIADH
294
What is the treatment for non small cell lung cancer?
Stage 1 (Small solitary tumour): Surgery is main treatment
Stage 2 (Large solid tumour or limited local spread): Surgery followed by chemotherapy or immunotherapy
Stage 3 (lymph node spread or multilobular disease): Neoadjuvant chemotherapy with surgery
Stage 4 (spread to other lung or distant metastasis): Palliative care
295
What disease is Tofacitinib used in?
Rheumatoid arthritis, ulcerative colitis, psoriatic arthritis
296
A 74 year old woman presents to the GP with of loss of vision and a severe headache around the sides of their head. In addition, she reports feeling generally tired and has trouble "getting going" in the morning.
An urgent referral to A&E is made. She treated urgently by the team and is admitted to hospital after blood results showed an elevated CRP.
24 hours after admission, a new set of bloods showed a moderate leukocytosis, which was not present on the previous bloods.
In the absence of other symptoms, what is the most likely cause of the leukocytosis?
Corticosteroids
Approximately 50% of neutrophils in blood are "stuck" to the walls of blood vessels. Steroids inhibit this adhesion and they subsequently circulate in blood.
297
HIV belongs to what family of viruses?
retroviridae
298
What class of medication is tisagenlecleucel?
Chimeric antigen receptor T cells
299
A 10 year old has severe hayfever. Twice in the last month she has complained to her parents of tingly lips after eating celery. She also says the same thing happens when she eats apples. What allergic condition is the cause of her symptoms?
Oral Allergy syndrome
300
What subset of T helper cells are associated with the transcription factor FoxP3?
T regulatory cells
T regulatory cells are CD25 positive T helper cells and express the transcription factor FOXP3.
They inhibit the immune response by secreting IL-10, an immunosuppressive cytokine.
Alternatively, T regs express CTLA-4 on their cell surface which can directly inhibit T cell activation.
301
What monoclonal antibody targets CD52 and causes depletion of all lymphocyte subsets?
Alemtuzumab
302
CD20 is typically a marker of what type of immune cell?
MATURE B cells
303
What molecule, secreted by the liver, inhibits iron absorption from the gut by inhibiting ferroportin?
Hepcidin
304
What intracellular inclusion may be found in the neutrophils of a patient with acute myeloid leukaemia?
Auer rods
305
A 67 year old woman is seen by her GP.
She says she is allergic to water as after she showers, she becomes very itchy & describes the development of hives.
Examination shows a mass in the left upper quadrant of the abdomen.
What is the first line treatment for this condition?
Phlebotomy
306
A 5 year old girl is diagnosed with a lymphoma after a lymph node biopsy.
What is the most likely type of lymphoma she has developed?
Burkett's lymphoma - remember these are very common in children <15 yrs!!
307
What oncogene is typically found in Burkitt's lymphoma and is created by a translocation between chromosome 8 and 14?
c-myc
308
What are inclusions of clusters of nuclear DNA within erythrocytes commonly called when seen in a peripheral blood film?
This finding is often associated with Sickle Cell Disease in adults.
Howell-Jolly bodies
309
A 10 year old boy is seen by his GP after his mother notices he has a "lumpy tummy", which has developed over the last week.
On examination his abdominal wall has a large number of small, hard, mobile subcutaneous lumps. You can feel at least three lumps greater than 2cm in size. These are present in the groin and anterior abdominal wall. There is also a large swelling in his left upper quadrant.
There is no history of a preceding viral illness. A urine dip is unremarkable. No one else at home is unwell. There has been no change to his bowel habit.
The mother reports the child hasn't been acting themselves for the last week, reporting lethargy. They appear pale.
What is the likely diagnosis?
Burkett's lymphoma
310
A recently immigrated 5 year old girl is seen in secondary care after concerns from her GP about an undiagnosed congenital condition.
She is short (below 5% percentile for age), has malformed fingers and flat, pigmented birthmarks all over her body.
Blood tests show a pancytopenia.
What is the likely diagnosis?
Fanconi anaemia is the most common type of inherited primary bone marrow failure. It presents between the ages of 5-9 with skeletal abnormalities (abnormal thumbs), short stature, cafe au lait spots and pancytopenia.
The disease is due to dysfunctioning DNA repair genes such as FANCA.
There is a high risk of developing acute myeloid leukaemia, approximately 10% of patients diagnosed with fanconi anaemia will develop this. 30% will develop some myelodysplastic syndrome.
311
What dysfunctional gene is common to myelofibrosis, essential thrombocytosis and polycythaemia rubra vera?
JAK2
312
What is the minimum suggested duration of anticoagulation for a provoked unilateral lower limb DVT?
3 months
313
A medical student is unsure about what cell she is looking at under the microscope. She is looking a peripheral blood film.
She says she has seen a number of these cells in this sample, but that they are not too common. This cell is very large and has a bilobed nucleus. She says at least 4 red blood cells could fit inside this cell.
What cell is she describing?
Monocyte
314
What blood test should be monitored regularly on a patient treated with unfractionated heparin?
APTT is more common
but sometimes anti-Xa assay
315
Which patients require LMWH monitoring?
Monitor with anti-Xa assay in late pregnancy and renal failure - otherwise LMWH usually does not require monitoring
316
A peripheral blood film from a patient with advanced myeloma shows a normocytic, normochromic anaemia.
What other blood film finding may be found in patients with advanced myeloma and reflects a high paraprotein concentration?
Rouleaux formation
317
What is the treatment of immune thrombocytopenic purpura (ITP)?
Mild thrombocytopenia (Platelet count >50) is generally not treated. Some haematologists may not treat at all unless actively bleeding.
Moderate-severe thrombocytopenia may be treated with steroids (works over a week or two) or IVIg (works within a few hours-days).
Platelet transfusions to patients with chronic ITP is not effective, as due to circulating autoantibodies most of the platelets will be destroyed within a few hours. Platelet transfusions may be indicated before emergency surgery or in haemorrhage.
318
What does evolocumab target?
PCSK9
