Med GEMS questions Flashcards
1
Q
Aminoglycosides act on which part of the bacterial ribosome?
A
30S
2
Q
Which antimicrobial agents work by inhibiting bacterial protein synthesis?
A
There are 5 main groups of antimicrobial agents that work by inhibiting bacterial protein synthesis. These can be remembered using the acronym TAMCO:
Tetracyclines (e.g. Doxycycline)
Aminoglycosides (e.g. Gentamicin)
Macrolides (e.g. Erythromycin)
Chloramphenicol
Oxazilidinediones
Aminoglycosides and Tetracyclines work by binding to the 30S subunit of ribosomes.
Macrolides and Chloramphenicol work by binding to the 50S subunit of ribosomes.
Oxazilidinediones works by binding to the 23S component of the 50S subunit of ribosomes.
3
Q
What is Kernig’s Sign?
A
A patient with suspected meningitis is asked by their consultant to lie supine, with a flexed hip and knee.
The consultant passively extends both knees slowly. However, the patient stops the doctor and refuses to extend the knee past 120 degrees of flexion due to pain.
4
Q
In what cell in the human body do Leishmania parasites multiply?
A
Macrophages
5
Q
Describe Mucocutaneous Leishmaniasis
A
This form of leishmaniasis causes skin and mucosal ulcers of the nose and mouth.
This is generally treated. Examples of therapies include sodium stibogluconate, liposomal amphotericin B or meglumine antimonate.
6
Q
What is the recommended antibiotic prophylaxis for bites by either cat, dog or human in a patient with no known allergies?
A
Co-amoxiclav
7
Q
What class of antibiotics does azithromycin belong to?
A
Macrolide
8
Q
What class of antibiotics does ceftriaxone belong to?
A
Third generation cephalosporin
9
Q
To which class of antibiotics does meropenem belong?
A
Carbapenems
10
Q
Cancer of what organ is commonly associated with schistosomiasis infection?
A
Bladder cancer
11
Q
What growth medium is used to differentiate Streptoccoci in the laboratory setting?
A
Blood agar
Beta Haemolytic (pale blood agar) -> Lancefield Grouping
12
Q
How is Q fever typically diagnosed?
A
Serology
13
Q
Q Fever is caused by what disease?
A
Coxiella burnetti
14
Q
What is the first line antimicrobial for treatment of Lyme Disease?
A
Doxycycline
15
Q
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?
A
Cefalexin
16
Q
What is the appropriate treatment for Visceral Leishmaniasis?
A
Liposomal amphotericin B
17
Q
Leishmaniasis is spread by which vector?
A
Sandfly
18
Q
What class of antibiotics does ciprofloxacin belong to?
A
Fluoroquinolones
19
Q
To what family of viruses does SARS-CoV-2 belong?
A
Coronaviridae
20
Q
What is the treatment for human tapeworms in adults?
A
Praziquantel
21
Q
What antibiotic would you prescribe first line for an infective exacerbation of COPD with a suspected bacterial etiology?
A
Amoxicillin
22
Q
What subtype of Herpes Simplex Virus is typically implicated in encephalitis?
A
HSV 1
23
Q
What is the primary infective lesion produced by Mycobacterium tuberculosis called in the lungs?
A
Ghon focus
A “Ghon focus” is the primary site of infection by Mycobacterium tuberculosis in the lungs. It is typically found in the lower zones towards the periphery of the lung and often calcifies over time.
24
Q
What assay is currently used to identify if someone has previously been infected with SARS-CoV-2?
A
ELISA
25
Which first-line Tuberculosis medication causes visual disturbances?
Ethambutol
26
Which malarial species presents with a 72 hour fever pattern?
Plasmodium malariae
27
Presence of atypical lymphoycytes on a peripheral blood film suggests what diagnosis?
Epstein barr virus
28
What is the full scientific name of the organism responsible for Q Fever?
Coxiella burnetti
29
What is the first line antibiotic for the treatment of acute otitis media in a patient with no known allergies?
Amoxicillin
30
Example of an Aminoglycosides?
Gentamicin
31
Example of a macrolide?
Erythromycin
32
What class of organisms are classically the hosts for Coxiella Burnetii?
Mammals
33
Describe Q fever
Q Fever (Coxiella Burnetii) is a disease characterised by abrupt onset of flu-like symptoms, fever, headache, muscle pain, chills which may progress (for exam purposes) to an atypical pneumonia and ARDS or endocarditis. However, most patients are asymptomatic.
34
Treatment for Q fever?
doxycycline or ciprofloxacin.
35
Which class of antibiotic does vancomycin belong to?
Glycopeptide
36
A 23 year old woman sees her GP complaining of deep dyspareunia with her new partner. She has never had an STI check before.
Speculum examination shows an erythematous, oedematous cervix.
A vaginal swab is taken and reveals a gram negative diplococcus.
What organism is likely responsible for her symptoms?
Neisseria gonorrhoea
37
Which first-line Tuberculosis medication causes hyperuricaemia?
Pyrazinamide (also causes hepatotoxicity)
38
A 39 year old alcoholic is admitted to the respiratory ward due to a chest infection.
There are crepitations in the left mid zone and this is associated with consolidation on X ray.
Past medical history is unremarkable.
Sputum culture showed Gram Negative Rods in clusters.
What organism is responsible for his chest infection?
Klebsiella pneummoniae
39
A 55 year old gentleman is referred to gastroenterology by his GP.
He has persistent dysphagia and weight loss. He has no other past medical history.
At endoscopy a diagnosis of oesophageal candidiasis is made.
What is the next most appropriate investigation?
HIV test
40
What antibiotic should be prescribed for a penicillin allergic, clinically stable patient with cellulitis?
Clarithromycin
41
A patient is suspected to have a community acquired pneumonia. Their CURB 65 is 1. Atypical infection is not suspected.
If indicated, what is the first line antibiotic for the treatment of this patient?
Amoxicillin
42
What viral enzyme is inhibited by oseltamivir?
Neuraminidase
43
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
44
Test for identifying Candida/Asperg/PCP?
Beta-D-glucan
45
Test for identifying cryptococcus?
Glucuronoxylomannan (GXM)
46
What is the first line antimicrobial for treatment of gonorrhea?
Ceftriaxone
47
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?
Tricophytum rubrum
48
Hepatitis D is a subviral satellite that can only replicate in the presence of what other virus?
Hepatitis B
49
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
50
A 23 year old medical student recently returned from her African medical elective presents with a 7 day history of of fever, myalgia and headaches.
What diagnostic investigation should be requested?
Thick blood film
51
What antibiotic is used to treat bacterial vaginosis and may be given as either as a STAT dose or as a weekly course?
Metronidazole
52
A 25 year old female presents for an STI screen.
She reports feeling feverish, has diffuse lower abdominal pain and dyspareunia.
A Nucleic Acid Amplification Test (PCR) is positive for the presence of a gram negative intracellular bacterium.
What is the likely causative organism?
Chlamydia trachomatis
53
Infection with HPV subtypes 6 and 11 typically causes what condition?
Genital warts
54
In immunocompetent patients, what is the typical presentation of listeriosis?
Gastroenteritis
55
A 16 year old athlete is seen by a pharmacist for an itchy white rash between his toes.
In addition to general hygiene advice, what topical antifungal cream may be used to treat this condition?
Clotrimazole
56
To what phylum do the organisms Leptospira spp, Borrelia spp, Treponema spp and Brachypsira spp belong?
Spirochaetes
57
A 34 year old is admitted to the respiratory ward due to a severe chest infection. There are crepitations in the right mid zone and this is associated with consolidation on X ray.
Past medical history is unremarkable. The patient says that he is recovering from the flu, which he had last week.
Sputum culture showed Gram Positive Cocci in clusters.
What organism is responsible for his chest infection?
Staphylococcus Aureus
58
A 2 month old baby presents to the A&E with a fever of 39.5C, feeding <50% of normal and is very drowsy.
In addition to cefotaxime, what other antibiotic would you start empirically?
Ampicillin
59
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
60
What is the gold standard diagnostic test for Leishmaniasis?
Splenic aspirate
61
What is the vector of transmission for Dengue virus?
Female aedes mosquito
62
What is the scientific name of the beef tapeworm?
Taenia saginata
63
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
64
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
65
What organism is responsible for the sexually transmitted infection Chancroid, which causes multiple painful ulcers?
Haemophilus ducreyi
66
A 18 year old man reports significant discolouring of one of his great toenails with associated onycholysis of that nail. There is a small amount of nail pitting visible also. No other nails are affected.
You decide to send the sample for culture but wish for a quicker result in the meantime.
What test would be appropriate to order to determine if treatment is needed?
Potassium hydroxide test
67
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.
Pityriasis versicolor
68
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?
Staph aureus
69
During which trimester of pregnancy is the risk of HSV transmission to a neonate greatest?
Third trimester
70
What is the name of the neurological sign of a pupil that accommodates, but does not react to light?
Argyll-Robertson pupil
71
What is the first line antibiotic for the treatment of a bacterial sore throat in a patient with a penicillin allergy?
Clarithromycin
72
What gram positive organism is associated with tumbling motility and rockets?
Listeria monocytogenes
73
Give an example of a beta haemolytic Streptoccoccus
Streptococcus agalactiae
74
What diagnostic test is used to diagnose chlamydia infection?
Nucleic Acid Amplification Tests
75
What antiviral drug is typically given prophylactically to patients undergoing allogenic stem cell transplantation to protect against CMV infection?
Gancyclovir
76
A child is suspected of having meningococcal septicaemia in the GP setting.
As you prescribe the medication, you note the child has a documented reaction to flucloxacillin, when they developed a mild rash.
What medication, if any, should the GP administer in the practice, before arranging immediate hospital admission?
Benzylpenicillin
77
A sexually active homosexual man received treatment two hours ago for genital primary syphilis.
He was given a single of dose of IM benzylpenicillin.
He presents to the emergency department reporting he has become unwell, with a fever, headache and muscle aches. He is concerned he is having an allergic reaction.
He is pyrexial at 38C and his blood pressure is 98/76.
What syndrome is he suffering from?
Jarisch Herxheimer reaction
78
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?
Penicillin V
79
A 50 year old lady of previous good health presents to her GP with multiple unsightly, discoloured, brittle toenails. Underneath each toenail is a chalky material.
The GP suspects multiple fungal nail infections. Nail scrapings grew dermatophytes and a PoC HIV ELISA is negative.
Prior to starting terbinafine, a systemic antifungal, what blood test should be ordered?
LFTs
80
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 (black fever)
81
A 33 year old man presents to their GP with multiple elevated, small, pink lesions with a dimple in the center over his abdomen.
He denies any pain, itching or bleeding. They are not obviously infected. He has no history of cold sores and had chickenpox as a child.
What infection must be ruled out in a person presenting with this characteristic rash?
HIV
82
What is the most common organism that causes an aseptic meningitis?
Enteroviruses
83
What are the pathogenic antibodies in bullous pemphigoid?
anti-hemidesmosomes
84
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
85
What type of vaccine is comprised of a polysaccharide bound to a immunogenic toxin?
Conjugate
86
What antigen is injected intradermally as part of the mantoux screening test for tuberculosis?
Tuberculin Purified Protein Derivative
87
What is the target of the antibody P-ANCA?
Myeloperoxidase
88
Target of c-ANCA?
Proteinase-3 = Granulomatosis with polyangiitis (Wegner's)
89
The MMR, VZV and yellow fever vaccines are what type of vaccination?
Live attenuated
90
Infections by what type of bacteria are more common in patients deficient in the complement protein C3?
Encapsulated
91
A 80 year old lady received 2 units of FFP 4 hours ago due to a severe nosebleed and an INR of 4.8 on admission.
She takes wafarin for a metallic heart valve. Over the last hour, she is beginning to feel short of breath, especially when lying down. She is hypotensive at 95/40 and SpO2 of 94% on 8L/min O2.
She is pyrexic at 37.8C.
What complication of blood transfusion is she suffering from?
Transfusion Related Acute Lung Injury
92
What auto-antibody is associated with Eosinophilic Granulomatosis with Polyangiitis (Churg Strauss)?
p-ANCA
93
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
94
What immunomodulatory agent may be given to treat chronic granulomatous disease?
Interferon Gamma
95
What monoclonal antibody targets IL-17 and is involved in the treatment of psoriasis, psoriatic arthritis and ankylosing spondylitis?
Secukinumab
96
What is the main metabolite of azathiroprine?
6-Mercaptopurine
97
A patient is investigated for a primary immunodeficiency. Lymphocyte counts are normal. However, IgG and IgA are low. There is an excess of IgM. What condition is this patient likely to have?
Hyper IgM syndrome
98
What is the inheritance pattern of reticular dysgenesis?
Autosomal recessive
99
What class of medication acts by inhibiting phospholipase A2 and reduces the expression of pro-inflammatory cytokines?
Corticosteroids
100
What type of bacteria are conjugated vaccines effective against?
Encapsulated
101
Subunit (recombinant) Vaccine examples?
Typically for viruses.
The vaccine contains proteins found on the surface of the viruses in addition to an adjuvant. Examples include Hep B and HPV.
102
Inactivated vaccines
These are vaccines where the pathogens have been rendered inert - usually by heat killing or formaldehyde.
Examples include the pertussis vaccine.
As the pathogen cannot replicate, it usually requires multiple booster shots to provide immunity.
103
How is ANA is typically detected?
Indirect immunofluorescence
104
Homogenous pattern of ANA staining suggests which antibodies?
Anti-dsDNA
105
speckled pattern of ANA staining suggests which antibodies?
Anti-centromere (CREST syndrome/limited cutaneous sclerosis)
106
The paediatric SpR is called to review a 16 day old infant who is pyrexic and appears unwell. His umbillical cord stump is still present, non-purulent, red, tender and hot. He has a fever of 39C. Blood tests reveal a neutrophil count of 16 (normal range: 1.5-8.0) What primary immunodeficiency is this patient likely to have?
Leucocyte adhesion deficiency
A rare autosomal recessive immunodeficiency. Neutrophils are unable to adhere to vascular endothelial - hence they cannot transmigrate into tissues to fight infection. This leads to a high level of neutrophils in the blood (neutrophilia). As a result, there is no abscess formation or pus.
107
What immune cell releases granzyme and perforin when activated?
CD8+ T cells
108
What lymphocyte lineage does cyclosporine predominantly inhibit?
T lymphocytes
109
What do tacrolimus and cyclosporine inhibit?
Calcineurin, a protein needed for T cell proliferation,
110
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
111
An 9 year old boy has had recurrent chest infections and influenza like illnesses since joining primary school.
Blood tests reveal a low lymphocyte count, with very low B cells but normal T cell levels.
There as very low levels of IgM, IgA and IgG.
What immunodeficiency is this patient likely to have?
Bruton's Agammaglobulinaemia. Bruton's Agammaglobulinaemia is a rare X linked immunodeficiency caused by a mutation in the BTK gene, which codes for a tyrosine kinase required for B cell development.
112
Treatment for Bruton's Agammaglobulinaemia?
It can usually be managed by injections of normal human IVIg for life.
113
What assay is used as the first line test for HIV infection?
ELISA
114
What antiretroviral drug is given as IV monotherapy during labour to prevent vertical transmission of HIV-1?
Zidovudine
115
What is the minimum number of Fc receptors on the surface of mast cells that must bind to an antigen to cause mast cell degranulation?
2
116
What antigen does the immune system erroneously target in autoimmune thrombocytopenic purpura?
Glycoprotein IIb/IIIa
117
An prenatal autoimmune panel of bloods reveals positive anti-Ro antibody in the blood of a pregnant woman with SLE. What cardiological condition is her unborn baby at risk of?
Congenital heart block
118
What serine protease released by neutrophils causes hepatitis and emphysema in patients deficient in alpha-1 antitrypsin?
Neutrophil elastase
119
What does alpha-1 antitrypsin inhibit?
Neutrophil elastase
120
Which cell surface receptor allows cells of the innate immune system to bind to immunoglobulins?
Fc receptors
121
What is the term used to describe a transplant between genetically distinct individuals of the same species?
Allograft
122
Transplant name between genetically identical members of the same species (self transplant or from an identical twin)?
Isograft
123
Which cells produce somatostatin?
Delta cells in the pancreas
124
What viral enzyme is predominantly responsible for the high mutation rate of HIV and other RNA viruses?
Reverse transcriptase
125
What primary immunodeficiency is a patient with a negative nitro-blue tetrazolium (NBT) test likely to have?
Chronic granulomatous disease
126
How may mast cell degranulation be measured?
Tryptase level
127
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 SCID
128
Which cytokine is important in the pathogenesis of rheumatoid arthritis, anyklosing spondylitis and inflammatory bowel disease?
TNF-alpha
129
What is the specific antigen recognised by the immune system in Goodpasture's syndrome?
Type IV collaen
130
What autoantibody is associated with Granulomatosis with Polyangiitis (Wegner's Granulomatosis)?
c-ANCA
131
What autoantibody is associated with Microscopic Polyangitis?
p-ANCA
132
What is the causative agent of Progressive Multifocal Leukoencephalopathy?
John Cunningham virus
133
What can cause JV virus re-activation?
This rare complication of immunosuppression is a concern particularly with the monoclonal antibody natalizumab used in the treatment of relapsing remitting multiple sclerosis. The pathogenesis of the condition includes the uncovering of dormant JC (John Cunningham) Virus, which is normally suppressed by a functioning immune system.
134
How long before skin prick testing must antihistamines be stopped to allow for accurate interpretation?
48 hours
135
Skin prick testing is used to detect what?
Used to determine allergens in Type 1 (IgE mediated) Hypersensitivity reactions, such as allergic rhinitis.
136
When is Patch testing used?
Used for the diagnosis of Type 4 (T cell mediated) hypersensitivity reactions, such as contact dermatitis.
137
What is the gold standard for diagnosis of food allergy?
double-blind, oral food challenge test.
138
What autoantibody is most commonly associated with Graves' disease?
Anti Thyroid Stimulating Hormone Receptor
139
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
140
Signs of reticular dysgenesis?
It is an autosomal recessive condition characterised by:
Severe, life threatening infections shortly after birth
Profound sensorineural deafness
Deficiency of the myeloid and lymphoid cell lineages
Without rapid bone marrow transplant (hematopoietic stem cell transplant) the condition is invariably fatal.
141
A 19 year old vegan presents to his GP with diarrhoea and vomiting of two days duration. He typically has 4 episodes of gastroenteritis a year and suffers from recurrent sinusitis. Immunoglobulin levels reveal a lack of IgA, IgG normal, IgM mildly elevated, IgE normal. What primary immunodeficiency is this patient likely to have?
IgA deficiency
142
The rabies and hepatitis A vaccinations are examples of what type of vaccination?
inactivated
143
A neutrophil releases preformed myeloperoxidase, defensins and neutrophil elastase. What is this process known as?
Degranulation
144
What cell is the hallmark of acute infection?
Infection
145
Increased IL-1 production occurs in which disease?
Familial mediterranean fever
146
What intracellular pro-proliferative molecule does cyclosporine and tacrolimus inhibit?
Calcineurin
147
What lymphocyte lineage does azathioprine predominantly inhibit?
T lymphocytes
148
Levels of what need to be checked prior to azathioprine therapy?
TPMT
149
Which joints in the hand are classically not affected by rheumatoid arthritis?
DIP
150
Autoantibodies directed against Fibrillarin and Scl70 are classically associated with what autoimmune condition?
Diffuse Cutaneous Systemic Sclerosis
151
Antibodies associated with Diffuse Systemic Sclerosis include:?
Anti-Scl70 (anti-topoisomerase)
Anti-Fibrillarin
Anti-centromere antibodies (present in around 10%)
152
What is the maximum number of viral capsids that a molecule of IgM may bind to?
10
153
What HLA allele is found in 90% of patients with coeliac disease?
HLA-DQ2
154
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
155
What colour is observed on a positive result (ie, the patient does not have the disease) on a nitro blue tetrazolium (NBT) test for chronic granulomatous disease?
Blue
156
What colour is the nitro blue tetrazolium (NBT) test in CGD?
Yellow
157
What HLA allele is associated with Graves disease?
HLA-DR3
158
A 80 year old woman was given a blood transfusion yesterday due to low haemoglobin. All observations normal. Infusion site is unremarkable. She feels like she has a fever. What complication of blood transfusion is this patient suffering from?
Febrile non-haemolytic transfusion reaction
Paracetamol or other NSAIDs may provide symptomatic relief.
159
What protein is defective in X linked Severe Combined Immunodeficiency?
Common gamma chain
160
What test is the ability of a patient's serum to lyse sheep erythrocytes coated with rabbit anti-sheep antibodies?
CH50
161
What mouse monoclonal antibody targets CD3 on the surface of T cells?
Muromonab
162
What is measured during an anaphylactic reaction to monitor response to treatment?
Mast cell tryptase
163
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 likely diagnosis?
Acute rheumatic fever
164
A 33 year old man is seen by the rheumatologists for evaluation of his raynaud's syndrome.
He says his hands are becoming more sensitive to changes in temperature. In addition, the skin is cracked and dry.
During the appointment, he is constantly sipping water from a water bottle.
An autoimmune antibody screen reveals positive ANA (Anti-Ro, Anti-La positive).
What autoimmune condition explains his symptoms?
Sjorgen's syndrome
165
The Meningitis C vaccination is an example of what type of vaccination?
Conjugate
166
How is Latex Food Syndrome diagnosed?
Skin prick testing
167
HIV infected CD4+ cells are killed by the immune system. What cell type is responsible for this?
CD8+ T cells
168
A woman is undergoing investigation for a suspected primary immunodeficiency. An initial blood test revealed a markedly low neutrophil count. However, a repeat blood test two weeks later was normal. What primary immunodeficiency is this patient likely to have?
cyclical neutropenia
169
Mutation in what cell surface receptor may confer immunity from HIV?
CCR5
170
What HLA allele is associated with Rheumatoid Arthritis?
HLA-DR4
171
Ritonavir is an example of what class of antiretroviral drug?
Protease inhibitor
172
What assay is used as the gold-standard for diagnosis of HIV or as a confirmatory test of infection?
Western blot
173
What enzyme, deficient or defective in chronic granulomatous disease, is responsible for the "respiratory burst" that may kill phagocytosed pathogens?
NADPH oxidase
174
What clinical criteria are used for the diagnosis of acute rheumatic fever?
Jones criteria
175
What gene is defective in Bruton's agammagobulinaemia?
BTK gene
176
What cell type gives pus its yellow/white appearance?
Neutrophils
177
What type of hypersensitivity reaction is Granulomatosis with Polyangiitis (Wegner's)?
Type 2
178
What monoclonal antibody targets alpha4 integrin and is used in the treatment of relapsing remitting multiple sclerosis?
Natalizumab
179
What is the long term management of Common Variable Immunodeficiency?
Normal Human Immunoglobulin
180
Common Variable Immunodeficiency (CVID) is a 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.
181
Which cytokine is predominantly responsible for T cell proliferation and survival?
IL-2
182
What is the long term management of Bruton's agammagobulinaemia?
Normal human immunoglobulin
183
Which subtype of T helper cells are implicated in the development of allergic diseases, such as asthma or eczema
T helper 2 cells
184
What is the descriptor given to a solution of antibodies that recognise multiple antigens?
Polyclonal antibodies
185
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?
SLE
A correctable/reversible deformity suggests Jaccoud's arthropathy as part of SLE rather than a diagnosis of rheumatoid arthritis.
186
What is the primary target of the antibody C-ANCA?
Proteinase 3
187
A neutrophil engulfs a pathogen and contains the pathogen within a membrane bound organelle.
What is this process known as?
Phagocytosis
188
What monoclonal antibody targets IL-23 and IL-12 and is used in the treatment of psoriasis or psoriatic arthritis?
Ustekinumab
189
What lymphocyte lineage does mycophenolate mofetil predominantly inhibit?
T lymphocytes
190
Which arm of the complement pathway is implicated in the pathogenesis of systemic lupus erythematosus?
Classical
191
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
192
What is the most common inherited primary immunodeficiency?
Selective IgA deficiency
193
Immunoglobulins may bind to bacteria to allow phagocytosis to occur. What is this process known as?
Opsonisation
194
What type of immune cell upon activation undergoes class switching and somatic hypermutation?
B lymphocytes
195
A patient undergoes a mantoux test to assess for exposure to TB.
A medical student asks to record the result of the test.
What should she physically measure?
Diameter of induration
196
What test can be used to measure the levels of serum IgE directed against brazil nut antigens?
Radioallergosorbent test
197
An autoimmune panel of bloods reveals positive anti-Jo-1 antibody in a woman with breast cancer.
What autoimmune condition is associated with this autoantibody?
Dermatomyositis
198
Which is the first type of immunoglobulin secreted in response to viral infection?
IgM
199
An autoimmune panel of bloods reveals positive anti-liver kidney microsomal-1 antibody and anti-smooth muscle antibody. There is also derangement of LFTs. What autoimmune condition is associated with these autoantibodies and deranged LFTs?
Autoimmune hepatitis
200
What monoclonal antibody targets the IL-6 receptor and is involved in the treatment of rheumatoid arthritis?
Tocilizumab
201
Immunology (Immunodeficiencies)
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
202
What lymphocyte lineage does cyclophosphamide predominantly inhibit?
B lymphocytes
203
A 50 year old man is seen by the rheumatologists.
The rheumatologists take a thorough history and the symptoms he experiences include: exquisitely painful fingers when entering the chilled aisle of his local supermarket, difficulty swallowing large bites of food, tight skin on his hands and around his mouth. In addition, he is easily fatigable and often feels feverish. His CRP is raised and an autoantibody is detected.
What antibody is associated with this condition?
Anti-centromere
204
What is the name given to a substance that increases the effectiveness of an immune reponse to a vaccination without altering the specificity of the response?
Adjuvant
205
Immunoglobulins may bind to multiple pathogens at once in order to enhance phagocytosis.
What is this process known as?
Agglutination
206
Mastocytosis suggests an infection by what class of organism?
Parasites
207
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
208
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
209
What is the full chromosomal abnormality found in DiGeorge syndrome?
22q11.2 deletion
210
What is the name given to the immunological process that must have occurred prior to a hyperacute transplant rejection?
Sensitisation
211
Congenital absence of C4 (Complement) predisposes to what autoimmune disease?
SLE
212
Most common complement deficiency?
C2 deficiency
213
Which type of immunoglobulin is highly specific and is produced more than 5 days after an inital infection?
IgG
214
What HIV protein is involved in initial binding to CD4?
gp120
215
HLA types DR, DQ and DP are what class of the major histocompatibility complex?
Class 2
216
he most important HLA classes with respect to transplant are?
DR > B > A
217
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
218
What is associated with polyarteritis nodosa?
Hepatitis B
219
Discuss polyarteritis nodosa
Polyarteritis Nodosa is a rare medium vessel vasculitis. It typically affects medium-sized arteries, such as the renal arteries.
The clinical presentation will be signs of end organ damage with constitutional symptoms (fever, tiredness) in a patient with risk factors. There may be other signs present, such as livedo reticularis.
Classically it is associated with Hepatitis B infection.
The effect of the inflammation is to cause a rosary bead appearance of arteries, where small aneurysms in arterial walls appear to look like beads on a string.
If a biopsy is required, a typical site is the Sural nerve (a superficial nerve in the calf of the leg).
220
CD14 is typically a marker of what type of immune cell?
Monocytes
221
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 (Churg strauss syndrome)
222
Which type of immunoglobulin is primarily secreted into breast milk and is responsible for passive immunity in newborns?
IgA
223
In haemolytic disease of the newborn, what maternal class of immunoglobulin is responsible for destruction of neonatal erythrocytes?
IgG
224
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?
thyroid and coeliac disease
225
What is the short-term treatment for severe, life threatening antibody mediated damage or dysfunction, for example myasthenic crisis, cyroglobulinaemia or antibody mediated rejection?
Plasmapheresis
226
When evaluating patients for coeliac disease, in addition to serology for anti-TTG and anti-endomyseal antibodies.
What other blood test should be performed to correctly interpret these serological tests?
Serum IgA levels
227
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
228
An ANA test using indirect immunofluorescence suggests a homogenous pattern of ANA staining. What autoantibody is this pattern of ANA staining associated with?
Anti-dsDNA
229
What type of hypersensitivity reaction is Goodpasture's disease?
Type 2
230
Which interleukin is classically responsible for inducing fever?
IL-1
231
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
232
What lymphocyte lineage does tacrolimus predominantly inhibit?
T lymphocytes
233
Which cell type secretes immunoglobulins?
Plasma cells
234
What type of hypersensitivity reaction is Type 1 Diabetes?
Type 4
T1DM is a type IV hypersensitivity reaction, mediated by T cell destruction of beta cells.
235
A 38 year old lady with known polycystic kidney disease received 3 units of blood over the last day due to a post-partum haemorrhage. She is complaining of shortness of breath. On examination she has mild pitting oedema of the sacrum and lower limbs. Serum BNP is elevated. She is apyrexic. What complication of blood transfusion is she suffering from?
Transfusion Associated Circulatory Overload
236
What HLA allele is associated with Systemic Lupus Erythematosus?
HLA-DR3
237
What specific malignancy are people with Sjogren's syndrome at greater risk of?
Mucosa Associated Lymphoid Tissue Lymphoma
238
A tumour cell has mutated and no longer expresses endogenous peptides and MHC Class I on the surface. What immune cell would recognise and kill this mutated cell?
Natural killer cells
239
A 80 year old lady received 4 units of blood 8 hours ago secondary to excessive bleeding from a minor fall.
Her INR was 3.5 on admission (on warfarin for metallic heart valve). Her GFR was 50ml/min on admission.
Over the last hour, she has felt short of breath, especially when lying down. She is hypertensive at 160/100, usual baseline 140/90.
What complication of blood transfusion is she suffering from?
TACO
240
What is the maximum number of viral capsids that a molecule of IgG may bind to?
2
241
Infections by what type of bacteria are more common in patients deficient in the complement protein C9?
Encapsulated
242
What blood product is most commonly contaminated by bacteria?
Platelets
243
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
It may present with constitutional symptoms of autoimmune disease, in addition to glomerulonephritis and lung haemorrhage.
244
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
245
What specific class of antiretroviral medication does abacavir belong to?
Nucleotide reverse transcriptase inhibitors
246
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
247
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 granulomatous disease
248
What autoantibody, sometimes detectable in Graves' disease, is a useful clinical marker in monitoring thyroid cancer?
Anti-thyroglobulin antibodies
249
What monoclonal antibody targets CD25 and is used in the prophylaxis and treatment of allograft rejection?
Basiliximab
250
What disease is Tofacitinib used in?
Rheumatoid arthritis
251
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
252
What is the treatment for Kostmann syndrome?
Treatment involves regular injections of granulocyte colony stimulating factor, which increases myelopoiesis and increases neutrophil levels.
253
A 48 year old female is seen by the dermatologists for "tight, painful skin". She says it is particularly painful on her fingers when it is cold, but otherwise she says it is difficult to move her fingers.
On examination, tight, smooth skin is noted on the wrist, arm, trunk and around the mouth.
In addition, she is desperately tired and sleeps for 10 hours a day. She also has difficulty eating and so has lost weight.
Her ESR is raised.
What is the most likely diagnosis?
This patient exhibits symptoms of tight, smooth skin on multiple areas of the body, difficulty moving fingers, fatigue, weight loss, and elevated ESR, which are characteristic of Diffuse Cutaneous Systemic Sclerosis.
The presence of scleroderma beyond the elbows/upper limbs suggests diffuse rather than limited systemic sclerosis. CREST represents the limited form of systemic sclerosis and hence is not correct.
254
HIV belongs to what family of viruses?
Retroviridae
255
What class of medication is tisagenlecleucel?
CAR T cell
256
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
257
What monoclonal antibody targets CD52 and causes depletion of all lymphocyte subsets?
Alemtuzumab
258
What is the maximum number of viral capsids that a molecule of secretory IgA may bind to?
4
259
What colour is observed on a negative result (ie, the patient does have the disease) on a nitro blue tetrazolium (NBT) test for chronic granulomatous disease?
Yellow
260
What condition may be precipitated by mutations in NOD2/CARD15?
Crohn's disease
261
Which enzyme has reduced activity in Gilbert’s syndrome and is responsible for the elevated unconjugated billirubin levels?
UDP glucoronyl transferase
262
A patient has the following electrolyte levels. Sodium 139 mmol/L. Potassium 4.1 mmol/L. Urea 3.8 mmol/L.
The serum concentration of what other substance is required in order to calculate the serum osmolarity?
Glucose
263
How is serum osmolalrity calculated?
(Na + K) squared + urea + glucose
264
What is type 1 renal tubular acidosis?
Renal tubular acidosis are a series of heterogenous conditions which describe the failure of the body to acidify the urine.
This, therefore, leads to an intravascular metabolic acidosis.
There are four clinically significant types of renal tubular acidosis.
Type 1 (Distal Renal Tubular Acidosis):
Profound metabolic acidosis
Hypokalaemia
Renal stones (more alkaline urine means calcium precipitates more easily)
Failure of alpha intercalated cells to secrete H+ and resorb K+
265
A 15 year old girl has a panic attack and is brought into A&E.
What acid base disturbance would you expect this patient to have?
Respiratory alkalosis
266
Name a drug used in the treatment of non-acute gout to reduce urate levels by increasing the fractional excretion of uric acid?
Probenecid
267
In sarcoidosis, production of which enzyme by granulomatous tissue can lead to hypercalcaemia?
1 alpha hydroxylase
268
What condition describes inadequate function of the proximal renal tubules of the kidney and is associated with glucosuria, hypophosphatemia and hyperuricosuria?
Fanconi syndrome
269
A 54 year old man with type 2 diabetes presents to A&E with low GCS.
He has dry mucous membranes and decreased skin turgor. His wife says he has been going to the toilet more frequently and drinking more for the last few days.
Blood tests show blood glucose 57 mmol/L, serum osmolality high and ketones negative.
What is the diagnosis?
Hyperosmolar Hyperglycaemic State
270
In bile acid synthesis Acyl-CoA cholesterol acyltransferase (ACAT) is the enzyme that converts cholesterol into what?
Cholesterol ester
271
What is the most potent pharmacological agent at reducing low density lipoprotein concentration in blood?
Evolocumab/PCKS9 inhibitor
272
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
273
Lomitapide is a low density lipoprotein lowering drug.
What protein does Lomitapide inhibit?
Microsomal triglyceride transfer protein
274
Which plasma protein is important in the calculation of a corrected calcium level?
Albumin
275
The van den Bergh reaction is used to measure serum bilirubin via fractionation. What kind of bilirubin is measured with the direct reaction?
Conjugated
276
Which drug, used in the treatment of acute gout to reduce inflammation, acts by inhibiting polymerisation of tubulin to reduce motility of neutrophils?
Colchicine
277
What is the mode of action of allopurinol?
Allopurinol inhibits the enzyme xanthine oxidase to reduce urate synthesis
278
An elderly lady living in a care home has limited mobility and rarely leaves home.
Blood tests find low vitamin D, calcium and phosphate with high PTH and ALP.
What is the most likely diagnosis?
Osteomalacia
279
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.
280
A 21 year old woman with Borderline Personality Disorder presents to A&E after taking an overdose of medication. Her blood gas shows a metabolic acidosis with respiratory alkalosis. She refuses to tell you what she has taken but does say she has ringing in her ears. What has she most likely overdosed on?
Salicylates
281
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 hyperlipoproteinaemia
282
Which term describes the total number of particles per Kilogram of solution and is measured with an osmometer?
Osmolality
283
What is the name of the cholesterol transport channel targeted by the drug Ezetimibe?
NPC 1L1
284
A 76 year old man is admitted following an exacerbation of his COPD.
Arterial blood gas shows:
pH 7.30 (NR: 7.35-7.45)
PaCO2 9 kPa (NR: 4.7-6.0 kPa)
PaO2 10 kPa (NR: 11-13 kPa on 21% FiO2)
HCO3- 38 mmol/L (NR: 22-26 mEq/L)
You identify that he is in type 2 respiratory failure.
How would you describe this patient’s acid base disturbance?
Chronic respiratory acidosis
285
A 14 year old type 1 diabetic presents to A&E with abdominal pain and vomiting. He realises his insulin pump has stopped working and so he has not received any insulin for some time.
How do you expect the anion gap to have changed in this patient, relative to the normal range?
Raised anion gap
286
A 24 year old bodybuilder presents to A&E unconscious. He was found at home with low GCS and his flatmate reported he had been shaking and appeared sweaty and confused. He has no past medical history of note. Blood tests show his insulin level is high and C-peptide is low.
What is the most likely cause of his symptoms?
Insulin overdose
287
What is the most common joint to be affected in acute gout?
1st metatarsalpharangeal
288
Which protein, found in blood plasma, exchanges triglycerides and cholesterol esters between lipoproteins?
Cholesteryl ester transfer protein (CETP)
289
In a patient with pseudopseudohypoparathyroidism, what would you expect the serum calcium level to be?
Normal (signs of pseudohypoparathryodism with normal biochemistry)
290
Parathyroid hormone (PTH) acts to increase serum calcium through a number of different mechanisms. Which enzyme, upregulated by PTH, is the rate limiting step in vitamin D activation?
1 alpha hydroxylase
291
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
292
An asymptomatic 50 year old man undergoes a 2 hour oral glucose tolerance test. After the 2 hours his plasma glucose is 9.4 mmol/L. What is the diagnosis?
Impaired glucose tolerance
293
Which term is used to describe increased bone density?
Osteosclerosis
294
What is the gold standard investigation for quantification of urinary protein loss, not typically performed in clinical practice?
24 hour urine collection
295
A patient with small cell lung cancer is found to be hyponatraemic. They are clinically euvolaemic with low serum osmolality and high urine osmolality. 9am cortisol and TFTs are normal. What is the most likely underlying diagnosis?
Syndrome of Inappropriate Anti Diuretic Hormone
296
What drug can be used to treat SIADH?
Tolvaptan, a V2 receptor antagonist
297
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 (Lesch Nyhan syndrome)
298
A patient presents with hyperkalaemia and changes are detected on his ECG.
What should be given intravenously as a cardioprotective measure?
Calcium gluconate
299
A patient with Bipolar Affective Disorder complains of excessive thirst and says they have been drinking more than usual and passing urine more frequently for some time now. Urine osmolality is low. Blood glucose is 5.1 mmol/L. You decide to do a water deprivation test. At the start of the test urine osmolality is 196 mOsmol/kg and after 4 hours urine osmolality remains low. After a subcutaneous injection of Desmopressin is given urine osmolality is 204 mOsmol/kg.
What is the most likely underlying diagnosis?
Nephrogenic DI
300
A 3 year old child is seen in the paediatric clinic after concerns about failure to thrive.
He has already been diagnosed with rickets and is on appropriate calcium and vitamin D replacement.
Blood tests show him to be hypokalaemic.
Urine dip shows the presence of protein and glucose. The pH of the urine is 8.6 (alkaline). There are no ketones in his blood.
What is the probable explanation for his failure to thrive, blood test result and urine dip findings?
Fanconi syndrome
301
Wilson's disease is associated with which renal condition?
Type 1 Renal Tubular Acidosis
302
Where in the nephron is the majority of bicarbonate reabsorbed?
Proximal convoluted tubule
303
What is the volume status of a patient with normal skin turgor, wet mucous membranes, capillary refill time of 2 seconds and a jugular venous pressure measured 7cm above the right atrium?
Euvolaemic
304
What enzyme would you classically expect to be raised in Paget’s disease of bone?
Alkaline phosphatase
305
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
306
A patient’s blood tests have returned and show they have a low serum sodium level. What investigation should be done to determine if this is a true hyponatraemia?
Serum osmolality
307
A patient presents to GP complaining of muscle spasms and tingling in their hands and feet. The doctor suspects an electrolyte abnormality and tests for Trousseau's sign. After a few minutes the patient’s wrist and metacarpophalangeal joints flex. There is also extension of the interphalangeal joints and adduction of the thumb. What electrolyte abnormality, if any, are these results suggestive of?
Hypocalcaemia
308
Trousseau's sign indicates what?
Low calcium
309
A patient with low serum calcium is present on the ward. The consultant wants to demonstrate the neuromuscular excitability caused by hypocalcaemia to the medical student. With the patient’s consent, he taps the facial nerve in the region slightly anterior to the external auditory meatus. The patient’s nose and lips twitch. What is the name of this sign?
Chvostek’s sign
310
A urine dipstick positive for blood but negative for erythrocytes on direct microscopy suggests the presence of what molecule?
Myoglobin
311
What family of enzymes in the gut does Orlistat inhibit?
Lipases
312
ApoE4 classically gives an increased risk of developing which neurodegenerative condition?
Alzheimer's disease
313
Where in the gut are bile acids reabsorbed?
Terminal ileum
314
An Indian lady complains of chronic bone and muscle pain. She moved to the UK from India 6 years ago and lives a fairly sedentary lifestyle. Her GP does some blood tests which find she is vitamin D deficient with low calcium, low phosphate and raised ALP. She has no other medical history of note. What hormone would you expect to be raised in this lady?
Parathyroid hormone
315
A young man is brought to the emergency department confused. He is mumbling nonsensical phrases and hyperventilating. The paramedics state he was found next to a number of white, circular pills however they were unable to determine what these were.
A panel of bloods reveals normal kidney function, but a low bicarbonate (17, NR 22-28) .
A head CT was unremarkable. Urine Drug Screen negative. Blood Alcohol levels negative.
An ABG reveals a pH of 7.5 (NR 7.35-7.45)
What drug is the patient likely to have overdosed on?
Salicylates
316
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
317
Levels of what enzyme must be checked before starting azathioprine?
Thiopurine methyltransferase
318
Which enzyme forms the rate limiting step in de novo purine synthesis?
PAT
319
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
320
An ECG shows bradycardia, P wave depression and tall peaked T waves.
What electrolyte abnormality is most likely responsible for these ECG changes?
Hyperkalaemia
321
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
322
An asymptomatic 50 year old man attends his GP for a routine check-up. His fasting plasma glucose is measured as 6.7 mmol/L. What is the diagnosis?
Impaired fasting glucose
defined as fasting plasma glucose between 6.1 - 6.9 mmol/L.
323
What is impaired glucose tolerance?
2 hour oral glucose tolerance test plasma glucose 7.8 - 11.0 mmol/L.
324
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
325
A 16 year old presents to A&E following an overdose of medications from the family medicine cabinet 4 hours ago.
She says she feels very unwell, nauseous and has vomited 4 times in the last 3 hours. She says the room is spinning and that she can hear a high pitched ringing in her ears.
Observations show that she is tachypneic and is feverish at 38c.
What medication is she likely to have overdosed on?
Salicylates
326
Give a cause of a normal anion gap metabolic acidosis
Addison's, Bicarbonate loss (diarrhoea, laxative abuse, Renal Tubular Acidosis), Chloride gain (Sodium Chloride 0.9% infusion), Drugs (acetazolamide)
327
A 15 year old is found unconscious next to an opened packet of pills by her friend. She is brought into the emergency department.
Her breathing is shallow, she is tachycardic, tachypnoeic. Her GCS is 9. An airway adjunct is placed.
On closer examination she has a fine tremor and is sweaty. Her friend said that she seemed drunk before she lost consciousness.
What is the most important blood test in the assessment of an unconscious patient?
Blood glucose level
328
What is the inheritance pattern of Gilbert’s syndrome?
Autosomal recessive
329
How is anion gap calculated?
Anion gap = (Na+ + K+) - (Cl- + HCO3-)
330
An 11 year old boy is brought into A&E by his mother. He is complaining of abdominal pain and has vomited multiple times. He appears thin and is drowsy. On examination you find dry mucous membranes and a fruity odour on his breath. What is the likely diagnosis?
Diabetic ketoacidosis
331
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
332
Recall that the anion gap is (Na + K) - (Cl + HCO3), what is the normal level?
Normally 14-18mmol/L
333
Causes of a raised anion gap metabolic acidosis are best remembered by what?
GOLDMARK
G: Glycols (ethylene glycol and propylene glycol) [overdose]
O: Oxoproline [chronic paracetamol use, usually malnourished women]
L: L-lactate [sepsis]
D: D-lactate [short bowel syndrome]
M: Methanol [overdose]
A: Aspirin [overdose. Initially causes respiratory alkalosis but in moderate/severe overdose causes metabolic acidosis]
R: Renal failure
K: Ketoacidosis [DKA, alcoholic, starvation]
334
Bilirubin is secreted into the gut via the biliary tree.
What do bacteria in the gut convert bilirubin into which gives stool its characteristic brown colour?
Stercobillogen - stercobillin
335
Looser’s zones are a pathognomonic X-ray finding of which condition?
Osteomalacia
336
What kind of inheritance is shown by the Multiple Endocrine Neoplasia syndromes?
Auotosomal dominant
337
A patient has an arterial blood gas performed in the emergency department
Na 136
K 4
Ur 6
Cr 135
Gluc 8.1
HCO3- 24
Cl- 101
What is the anion gap?
15
338
A metabolic acidosis with high anion gap may be due to the presence of what in DKA?
Ketones
339
Please calculate the anion gap for the following data:
pH 7.4
BE 2
Na 150mmol/L
K 4mmol/L
Cl 115mmol/L
HCO3 24mmol/L
Glucose 5mmol/L
Lactate 2mmol/L
Urea 6mmol/L
Serum osmolarity 307
15
340
What is the osmolar gap?
Lab calculated osmolality - osmolarity that you calculated
This should be less than 10. If it is greater than 10 then it suggests the presence of something that our tests cannot measure directly.
341
Please calculate the osmolar gap for the following data:
pH 7.4
BE 2
Na 130mmol/L
K 5mmol/L
Cl 110mmol/L
HCO3 25mmol/L
Glucose 5mmol/L
Lactate 2mmol/L
Urea 5mmol/L
Serum osmolarity 288mmol/L
8
342
You are handed the following VBG while working in the acute medical unit.
The patient took a mixed overdose of an unknown quantity of both methanol and aspirin yesterday.
A VBG shows the following
pH 7.31
BE -4
Na 144mmol/L
K 5mmol/L
Cl 100mmol/L
HCO3 22mmol/L
Glucose 8mmol/L
Lactate 1mmol/L
You are also given the urea (6mmol/L) and serum osmolarity which is 318mmol/L. Ketones are 0.1mmol/L.
What drug is responsible for her metabolic acidosis?
Aspirin
343
Please calculate the anion gap for the following data:
pH 7.4
BE 2
Na 142mmol/L
K 3mmol/L
Cl 105mmol/L
HCO3 24mmol/L
Glucose 5mmol/L
Lactate 2mmol/L
Urea 6mmol/L
Serum osmolarity 307mmol/L
16
344
Please calculate the osmolar gap for the following data:
pH 7.4
BE 2
Na 148mmol/L
K 4mmol/L
Cl 115mmol/L
HCO3 24mmol/L
Glucose 5mmol/L
Lactate 2mmol/L
Urea 6mmol/L
Serum osmolarity 319mmol/L
4
