Clinical Conditions

Question 1

What is Crohn’s disease?

Answer 1

• Crohn’s disease is a long-term condition that causes inflammation of the lining of the digestive system
• Inflammation can affect any part of the digestive system, but most commonly occurs in the ileum / large intestin

Question 2

What are blastomas?

Answer 2

Blastomas are malignant neoplasms which occur mainly in children and are formed from immature precursor cells e.g. nephroblastoma

Question 3

What is an embolism?

Answer 3

An embolism is the blockage of a blood vessel by solid, liquid or gas at a site distant from its origin

Question 4

What is Hereditary non-polyposis colon cancer?

Answer 4

• HNPCC is an autosomal dominant familial syndrome due to mutations in the DNA mismatch repair genes (caretaker genes)
• Cancers tend to occur in patients < 50 years old and malignancies are often in the caecum and proximal colon

Question 5

What is arteriosclerosis?

Answer 5

Arteriosclerosis is the thickening and hardening of arteries and arterioles due to conditions such as hypertension and diabetes mellitus

Question 6

What is lymphomas?

Answer 6

Lymphomas are malignant neoplasms of lymphocytes, mainly affecting lymph nodes

Question 7

What is Haemophilia A?

Answer 7

• Haemophilia A is an X-linked recessive disorder due to a congenital lack of factor VIII
• It can be mild/moderate/severe depending on amount of factor VIII present and is treated with recombinant factor VIII or DDAVP

Question 8

What is a berry aneurysm?

Answer 8

• A berry aneurysm is a common form of intracranial aneurysm which is congenital or secondary to blood vessel injury (not atherosclerosis)
• They commonly occur within the circle of Willis and the adjacent arteries and thus, blood accumulates in the subarachnoid space

Question 9

What is osteogenesis imperfecta?

Answer 9

• Osteogenesis imperfecta (aka brittle bone disease) is a disease where patients have too little bone tissue and hence extreme skeletal fragility
• They present with blue sclerae (translucent – little collagen), hearing impairment and dental abnormalities

Question 10

What is Alport syndrome?

Answer 10

• Alport syndrome is an X-linked disease wherein Type IV collagen is abnormal resulting in dysfunction of the glomerular basement membrane, the cochlea of the ear and the lens of the eye
• Patients, usually male, present with neural deafness, eye disorders and haematuria which progresses to chronic renal failure

Question 11

What is ulcerative colitis?

Answer 11

• Ulcerative colitis is a long-term condition, where the colon and rectum become inflamed
• Small ulcers can develop on the colon’s lining, and can bleed and produce pus

Question 12

What is cirrhosis?

Answer 12

• Cirrhosis is the scarring of the liver caused by continuous long-term liver damage
• Scar tissue replaces healthy tissue irreversibly in the liver and if extensive, impairs liver function (liver failure)

Question 13

What is a transient ischaemic attack?

Answer 13

• A TIA (aka “mini stroke”) is a brief episode of neurological dysfunction caused by a temporary disruption in cerebral blood flow (schaemia without infarction)
• It presents with sudden symptoms similar to a stroke e.g. speech and visual disturbance, and numbness or weakness in the face, arms and legs

Question 14

What is hereditary angio-oedema?

Answer 14

• Hereditary angio-oedema is an extremely rare autosomal dominant condition in which sufferers have an inherited deficiency of C1-esterase inhibitor
• Patients have attacks of non-itchy cutaneous angio-oedema and experience recurrent abdominal pain due to intestinal oedema

Question 15

What is rheumatoid arthritis?

Answer 15

• Rheumatoid arthritis is a long-term condition that causes pain, swelling and stiffness in the joints
• The symptoms usually affect the hands, feet and wrists

Question 16

What is an ulcer?

Answer 16

An ulcer is breach in the mucosa to the level of submucosal layer/deeper

Question 17

What is Haemophilia B

Answer 17

Haemophilia B is an X-linked recessive disorder due to the congenital reduction in factor IX

Question 18

What is Barrett’s oesophagus?

Answer 18

• Barrett’s oesophagus is the metaplasia of oesophageal stratified squamous epithelium to gastric/intestinal type epithelium
• It occurs secondary to persistent acid reflux from the stomach into the oesophagus and predisposes to esophageal adenocarcinoma

Question 19

What is lobar pneumonia?

Answer 19

• Lobar pneumonia is an inflammatory condition of the lungs, primarily affecting the alveoli and caused bacteria/viruses
• It affects all or part of a lobe with other areas generally normal

Question 20

What is a deep vein thrombosis?

Answer 20

• A deep vein thrombosis is the formation of a thrombus within a deep vein, most commonly the deep calf veins
• It produces an inflammatory response (calor, dolor, rubor, tumor, functio laesa)

Question 21

What is bronchopneumonia?

Answer 21

• Bronchopneumonia is an inflammatory condition of the lungs, primarily affecting the alveoli and caused bacteria/viruses.
• It has a patchy distribution and generally involves more than one lobe and often both lungs (seen in young & old patients)

Question 22

What is scurvy?

Answer 22

• Scurvy is a disease which results from a deficiency of vitamin C which is required for hydroxylation of procollagen
• Defective collagen production presents with impaired wound healing and bone formation, fragile capillaries, resulting in abnormal bleeding

Question 23

What is familial adenomatous polyposis?

Answer 23

• FAP is an autosomal dominant inherited condition in which numerous adenomatous polyps form mainly in the epithelium of the large intestine
• While these polyps start out benign, malignant transformation into colon cancer occurs when they are left untreated

Question 24

What is chronic granulomatous disease?

Answer 24

• Chronic granulomatous disease is a genetic condition wherein phagocytes cannot form superoxide and initiate a respiratory burst.
• This results in many chronic infections in the first year of life as well as the formation of numerous granulomas and abscesses affecting the skin, lymph nodes, lung, liver and bones

Question 25

What is sarcoidosis?

Answer 25

• Sarcoidosis is a rare condition of unknown cause which causes granulomas to develop in the organs of the body
• It usually affects the lungs and skin

Question 26

What is a thrombosis?

Answer 26

A thrombosis is the formation of a solid mass from the constituents of the blood, within the circulatory system

Question 27

What is Von Willebrand’s Disease?

Answer 27

• Von Willebrand’s disease is a relatively common autosomal dominant disease often due to a reduction in vWF production
• There is abnormal platelet adhesion to the blood vessel wall as well as reduced FVIII amount/activiy

Question 28

What is α1-antitrypsin deficiency?

Answer 28

• α1-antitrypsin deficiency is an autosomal recessive disorder resulting in low levels of alpha-1 antitrypsin, a protease inhibitor which deactivates enzymes released from neutrophils at the site of inflammation.
• Patients develop emphysema as proteases released by neutrophils within the lung destroy normal parenchymal tissue

Question 29

What is atherosclerosis?

Answer 29

Atherosclerosis is the thickening and hardening of arterial walls as a consequence of an atheroma

Question 30

What are malignant neoplasms?

Answer 30

A malignant neoplasm is an abnormal growth of cells that persists after the initial stimulus is removed and invades surrounding tissue, potentially spreading to distant sites

Question 31

What is chronic gastritis?

Answer 31

• Chronic gastritis occurs when the stomach lining becomes inflamed, often due to bacterial infection by Helicobacter pylori
• It can be painless or cause dull, persistent stomach pain

Question 32

What is a neoplasm?

Answer 32

A neoplasm is an abnormal growth of cells that persists after the initial stimulus is removed

Question 33

What is an atheroma?

Answer 33

An atheroma is the accumulation of intracellular and extracellular lipid in the intima and media of large and medium sized arteries

Question 34

What is a stroke?

Answer 34

A stroke is a rapid onset of cerebral deficit (usually focal) lasting more than 24 hours or leading to death, with no cause apparent other than a vascular one

Question 35

What is Ehlers-Danlos syndrome?

Answer 35

• Ehlers-Danlos syndrome is a heterogeneous group of 11 inherited disorders due to the defective conversion of procollagen to tropocollagen
• Collagen fibres lack adequate tensile strength, hence the skin is hyperextensible, fragile and susceptible to injury and joints are hypermobile

Question 36

What is chronic cholecystitis?

Answer 36

• Chronic cholecystitis involves repeated episodes of acute inflammation of the gallbladder
• It usually occurs when a gallstone blocks the cystic duct

Question 37

What is wet gangrene?

Answer 37

• Wet gangrene is necrosis that has been modified by infection with a mixed bacterial culture
• The underlying process is liquefactive necrosis

Question 38

What is chronic hepatitis?

Answer 38

Chronic hepatitis is defined as over 6 months history with histology of inflammation and necrosis in the liver

Question 39

What are myelomas?

Answer 39

Myelomas are malignant neoplasms of plasma cells

Question 40

What is an ischaemic stroke?

Answer 40

An ischaemic stroke is a stroke secondary to a reduction or cessation of blood flow to a localised area of brain due to arterial occlusion or hypoperfusion

Question 41

What are pressure sores?

Answer 41

• Pressure sores are ulcerated areas of skin caused by continuous pressure from the weight of the body on that area resulting in skin ischaemia
• Skin compression leads to damage of the underlying tissues and blood vessels, commonly occurring over bony prominences e.g. heels, sacrum, elbows, hips

Question 42

What are leukaemias?

Answer 42

Leukaemias are malignant neoplasms of blood-forming cells arising in the bone marrow

Question 43

What is a paraneoplastic syndrome?

Answer 43

Paraneoplastic syndrome is a disease or symptom that is the consequence of the presence of cancer in the body, but is not due to the local presence of cancer cells

Question 44

What is dry gangrene?

Answer 44

- Dry gangrene is necrosis that has been modified by exposure to air

• The underlying process is coagulative necrosis

Question 45

What is Disemminated Intravascular Coagulopathy?

Answer 45

• DIC is a type of microangiopathic haemolytic anaemia due to the pathological activation of coagulation
• Numerous microthrombi are formed in the circulation which leads to consumption of clotting factors and platelets and a haemolytic anaemia

Question 46

What is a tumour?

Answer 46

A tumour is any clinically detectable lump or swelling

Question 47

What is a haemorrhagic stroke?

Answer 47

A haemorrhagic stroke is a stroke secondary to bursting of a blood vessel, often seen in hypertension

Question 48

What is a pulmonary embolism?

Answer 48

• A pulmonary embolism is a sudden blockage of a pulmonary artery in the lung, usually due to a deep vein thrombosis
• It presents with chest pain, shortness of breath, coughing and blood stained sputum