ID/Haem/Imm/Genetics Flashcards
What causes multiple myeloma?
Malignant proliferation of plasma cells
What is seen on serum electrophoresis in multiple myeloma?
The presence of a monoclonal protein
Where do you see the Philadelphia chromosome?
CML
How does Lyme disease present?
Erythema migrans
Late: neurological, joint or skin involvements (e.g. wrist stiffness)
How does paroxysmal nocturnal haemoglobulinuria present?
Acquired haemolytic anaemia
Thromboses in large vessels
Deficient haematopoeisis
What is TACO/TRALI?
Acute onset of non-cardiogenic pulmonary oedema
TRALI = hypotension
TACO = htn
What is Hartnup disease?
Hartnup disease is a rare genetic disorder that affects the body’s ability to absorb amino acids from food:
How does Hartnup disease present?
Mostly asymptomatic
Skin rash, especially when exposed to sunlight
Sensitivity to light
Diarrhea
Mood changes
Nervous system problems, such as abnormal muscle tone or uncoordinated movements
How do we treat Hartnup disease?
Attacks can be treated with oral nicotinamide.
High protein diet.
What is maple-syrup urine disease?
Autosomal recessive deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to a build-up of the branched-chain amino acids (leucine, isoleucine & valine). Accumulation of these amino acids leads to encephalopathy & progressive neurodegeneration.
How does maple-syrup urine disease present?
Infants with this disease seem healthy at birth but quickly deteriorate, developing poor feeding & vomiting in the first week of life. Lethargy & coma may develop in a few days often with severe brain damage, which may be permanent. If untreated, death often occurs within the first five months.
How do we diagnose and treat maple-syrup urine disease?
- Diagnosis is often suspected because of the sweet odour of maple syrup found in urine & sweat.
- Treatment is with a diet low in foods that contain branched chain amino acids.
How does Turner’s syndrome present?
Short stature
Gonadal dysgenesis - 1o and 2o amemorrhoea
Lymphoedema
What is the karyotype seen in Turner’s syndrome?
45XO
How does cryptococcosis present?
A 30-year-old man with HIV presents with headache, neck stiffness, vomiting and photophobia. Lumbar puncture reveals an organism that stains positive with India Ink dye. He is commenced on Amphotericin & Flucytosine.
How does cryptosporidia present?
A 25-year-old woman with HIV presents with diarrhoea. Zeil-Neilsen stained stool sample shows characteristic cysts.
Which type of infections is the spleen important for?
Encapsulated bacteria
SHiN SKiS
Streptococcus pneumoniae
Haemophilus influenzae type b (Hib)
Neisseria meningitidis (Meningococcus)
Group B Streptococcus (GBS)
Klebsiella pneumoniae
Salmonella typhi
How do we diagnose malaria?
Giemsa- stained thick and thin blood films
P. falciparum, P. vivax, P. ovale, P. malariae
Where do you see Reed-Sternberg cells?
Hodgkin’s lymphoma
Which sexual behaviour has the most likely risk of HIV transmission?
Receptive anal sex (bottoming) is the highest-risk sexual behaviour, but one can also get HIV from insertive anal sex (topping).
The bottom’s risk is very high because the lining of the rectum is thin and may allow HIV to enter the body
during anal sex.
What is perennial allergic rhinitis?
Caused by house dust mites, present all year round
For which allergy can we use hyposensitisation?
Specific allergen immunotherapy is useful for wasp venom anaphylaxis
What is hereditary spherocytosis?
Autosomal dominant disorder of the red cell membrane, leading to haemolytic anaemia
How does hereditary spherocytosis present?
Anaemia, splenomegaly, jaundice
Usually in young age
What is shown on blood film in hereditary spherocytosis?
Spherocytes (small cells which have lost their central pallor) and increased reticulocytes
Why is the ESR low in sickle cell anaemia?
Inability to form rouleaux. A rouleau is a stack of red blood cells (RBCs) that clump together. The flat surfaces of RBCs allow them to stick together and form a stack, similar to a stack of coins
How long do we observe pts who have recovered from anaphylaxis?
At least 6hrs, before review by senior clinician
What is anaemia of chronic disease?
Anaemia of chronic disease (ACD) is a common syndrome in which anaemia is due to an inflammation-mediated reduction in red blood cell (RBC) production and sometimes in RBC survival. Commonly found in acute and chronic infections; autoimmune disorders; chronic diseases; malignancy; after major trauma, surgery, or critical illness; and among older adults.
What is sideroblastic anaemia?
Sideroblastic anaemia is a type of anaemia that results from abnormal utilization of iron during erythropoiesis i.e. where the body produces enough iron but is unable to put it into the haemoglobin. It is very rare.
How is fragile X syndrome inherited?
Dominant X-linked gene with variable penetrance
What is schistosomiasis, and how is it spread?
Second most prevalent tropical disease in the world, spread by fresh water exposure in an endemic area
What causes amoebiasis, and how is it spread?
Entamoeba histolytica
Spread via ingestion of the cystic form of the protozoa
Most common clinical manifestation is liver abscess
Why is APTT sometimes prolonged with VWD?
Low levels of factor VIII
Hypersensitivity to egg is a contraindication to which vaccine?
Influenza
Which live vaccines can HIV +ve pts have?
MMR and varicella-zoster (as long as not severely immunocompromised)
When is MMR contraindicated?
If someone has a undiagnosed/uncontrolled neurological condition
Where do you see anticardiolipin antibodies?
- Antiphospholipid syndrome
- Systemic lupus erythematosus (SLE)
- Idiopathic thrombocytopenic purpura
- Rheumatoid arthritis
- Psoriatic arthritis
- Sjögren’s syndrome
How does the risk of Down syndrome change with age?
The risk of Down syndrome increases with the mother’s age:
- 20y.o. 1:1500
- 30y.o 1:800
- 35y.o. 1:270
- 40y.o. 1:100
- 45y.0. ≥1:50
How do we treat CML?
Imatinib
What is an orthomyxovirus?
Influenza is an e.g., it is an RNA virus
What is the most common cause of a cold?
Rhinovirus
What is HPV?
A papovavirus
What is pernicious anaemia?
Pernicious anaemia (PA) is a disease of the stomach that is characterised by megaloblastic anaemia due to vitamin B12
deficiency (secondary to intrinsic factor deficiency) and gastric atrophy.
What is the first antibody produced in response to an infection?
IgM
Which type of immunoglobulin is rheumatoid factor?
IgM
What is the main antibody present in secretions such as tears, saliva and sweat?
IgA
What are IgA antibodies?
IgA antibodies are found in areas of the body such the nose, breathing passages, digestive tract, ears, eyes, and vagina and they are also found in saliva, tears, and blood.
* They protect body surfaces that are exposed to outside foreign substances.
* Make up about 10% to 15% of the antibodies present in the body.
* A small number of people do not make IgA antibodies.
What are IgG antibodies?
IgG antibodies are found in all body fluids.
* They are the smallest but most common antibody (75% to 80%) of all the antibodies in the body.
* Important in fighting bacterial and viral infections.
Which type of antibodies can cross the placenta?
IgG antibodies
What are IgM antibodies?
Ig antibodies are the largest antibody.
* They are found in blood and lymph fluid.
* First type of antibody made in response to an infection.
* 5% to 10% of all the antibodies in the body.
What are IgE antibodies?
IgE antibodies are found in the lungs, skin, and mucous membranes.
* They cause the body to react against foreign substances such as pollen, fungus spores, and animal dander.
* IgE antibody levels are often high in people with allergies.
What are IgD antibodies?
IgD antibodies
* Expressed in the plasma membranes of immature B-lymphocytes.
* Also found in small amounts in blood.
Antibody testing for HIV is reassuring at which stage?
3/12 after exposure
What is selective immunoglobulin A deficiency?
Selective immunoglobulin A (IgA) deficiency is a relatively mild genetic immunodeficiency due to lack of IgA which usually protects against infections of the mucous membranes lining the mouth, airways, and digestive tract.
It is defined as an undetectable serum IgA level in the presence of normal serum levels of IgG and IgM.
* It is the most common of the primary antibody deficiencies.
* People with selective IgA deficiency are usually asymptomatic, but can have increased frequency of infections, particularly in the respiratory and digestive system.
What is severe combined immunodeficiency syndrome?
Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections, diarrhoea, dermatitis, and failure to thrive.
* It is caused by a number of molecular defects that lead to severe compromise in the number and function of T cells, B cells, and occasionally natural killer cells.
How does severe combined immunodeficiency syndrome present?
Clinically, most patients present before age 3 months with unusually severe and frequent infections by common or opportunistic pathogens.
* Mucocutaneous candidiasis often is more severe than expected and resistant to treatment.
* Bacterial otitis media and pneumonia are common.
* Viral infections include varicella, herpes simplex, RV, rotavirus, adenovirus, enterovirus, parainfluenza virus, EBV, and
CMV.
What causes hereditary angioedema?
Inherited disease caused by low levels of the plasma protein C1 inhibitor (C1-INH)
How does hereditary angioedema present?
Patients can present with any combination of cutaneous angioedema, severe abdominal pain, or acute airway obstruction.
What causes chickenpox?
Varicella-zoster virus
What does pox virus cause?
Molloscum contagiosum
What is cat scratch disease?
Cat scratch disease is a bacterial (Bartonella hensele) infection affecting lymph nodes that drain the sites of inoculation from a cat scratch or bite and is one of the most common causes of chronic lymphadenopathy in children and adolescents.
Which pair of chromosomes is the Philadelphia chromosome?
T(9;22)
Which tumour marker is Ca19-9?
Pancreatic ca
Which tumour marker is for colorectal ca?
CEA
What is the tumour marker for hepatocellular ca?
AFP
Which neurological condition is associated with Down’s syndrome
Early-onset Alzheimer’s disease
Where do you see Heinz bodies?
G6PD deficiency
What most commonly causes impetigo?
S aureus
What is polycythaemia rubra vera?
Polycythaemia vera is a haematological malignancy. It is generally a disease of middle and older age and is characterised by pruritus, headaches, dizziness, sweating, ruddy complexion and symptomatic splenomegaly, along with an increased risk of thrombosis and the potential for evolution to myelofibrosis and secondary acute myeloid leukaemia. Blood tests show erythrocytosis and often thrombocytosis and leukocytosis.
What is achondroplasia?
Achondroplasia is a genetic condition affecting a protein in the body called the fibroblast growth factor receptor. In achondroplasia, this protein begins to function abnormally, slowing down the growth of bone in the cartilage of the growth plate. Causes dwarfism
What is the first-line investigation for ? haemophilia?
APTT (prolonged)
What is the most common cause of meningitis in adults?
Strep pneumoniae
