What is Crohn’s disease?
- 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
What are blastomas?
Blastomas are malignant neoplasms which occur mainly in children and are formed from immature precursor cells e.g. nephroblastoma
What is an embolism?
An embolism is the blockage of a blood vessel by solid, liquid or gas at a site distant from its origin
What is Hereditary non-polyposis colon cancer?
- 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
What is arteriosclerosis?
Arteriosclerosis is the thickening and hardening of arteries and arterioles due to conditions such as hypertension and diabetes mellitus
What is lymphomas?
Lymphomas are malignant neoplasms of lymphocytes, mainly affecting lymph nodes
What is Haemophilia A?
- 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
What is a berry aneurysm?
- 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
What is osteogenesis imperfecta?
- 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
What is Alport syndrome?
- 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
What is ulcerative colitis?
- 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
What is cirrhosis?
- 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)
What is a transient ischaemic attack?
- 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
What is hereditary angio-oedema?
- 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
What is rheumatoid arthritis?
- 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
What is an ulcer?
An ulcer is breach in the mucosa to the level of submucosal layer/deeper
What is Haemophilia B
Haemophilia B is an X-linked recessive disorder due to the congenital reduction in factor IX
What is Barrett’s oesophagus?
- 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
What is lobar pneumonia?
- 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
What is a deep vein thrombosis?
- 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)
What is bronchopneumonia?
- 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)
What is scurvy?
- 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
What is familial adenomatous polyposis?
- 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
What is chronic granulomatous disease?
- 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
What is sarcoidosis?
- 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
What is a thrombosis?
A thrombosis is the formation of a solid mass from the constituents of the blood, within the circulatory system
What is Von Willebrand’s Disease?
- 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
What is α1-antitrypsin deficiency?
- 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
What is atherosclerosis?
Atherosclerosis is the thickening and hardening of arterial walls as a consequence of an atheroma
What are malignant neoplasms?
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
What is chronic gastritis?
- 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
What is a neoplasm?
A neoplasm is an abnormal growth of cells that persists after the initial stimulus is removed
What is an atheroma?
An atheroma is the accumulation of intracellular and extracellular lipid in the intima and media of large and medium sized arteries
What is a stroke?
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
What is Ehlers-Danlos syndrome?
- 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
What is chronic cholecystitis?
- Chronic cholecystitis involves repeated episodes of acute inflammation of the gallbladder
- It usually occurs when a gallstone blocks the cystic duct
What is wet gangrene?
- Wet gangrene is necrosis that has been modified by infection with a mixed bacterial culture
- The underlying process is liquefactive necrosis
What is chronic hepatitis?
Chronic hepatitis is defined as over 6 months history with histology of inflammation and necrosis in the liver
What are myelomas?
Myelomas are malignant neoplasms of plasma cells
What is an ischaemic stroke?
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
What are pressure sores?
- 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
What are leukaemias?
Leukaemias are malignant neoplasms of blood-forming cells arising in the bone marrow
What is a paraneoplastic syndrome?
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
What is dry gangrene?
- Dry gangrene is necrosis that has been modified by exposure to air
- The underlying process is coagulative necrosis
What is Disemminated Intravascular Coagulopathy?
- 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
What is a tumour?
A tumour is any clinically detectable lump or swelling
What is a haemorrhagic stroke?
A haemorrhagic stroke is a stroke secondary to bursting of a blood vessel, often seen in hypertension
What is a pulmonary embolism?
- 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