1. Pellagra
    • niacin (B3) deficiency
    • symptoms: agression, light sensitivity, dermatitis (red lesions), alopecia, "beefy red" tongue, confusion, ataxia, neurology, diarrhoea
    • lack of dietary niacin (meat, cereals, peanuts, legumes)
    • tryptophan deficiency (soy, meat, eggs)
    • excess leucine
    • carcinoid tumours --> excess serotonin --> tryptophan deficiency
  2. Wilson's Disease
    • Lab Results
    • * ceruloplasmin secreted unbound and quickly broken down = low ceruloplasmin, low total Cu
    • * Cu released unbound into blood  precipitates in kidneys, eyes, brain (esp lenticular nucleus of basal ganglia) = high free Cu* only free Cu can be excreted in urine = high urinary Cu

    Cu accumulates in the liver tissue causing oxidative damage causing chronic hepatitis, fibrosis, cirrhosis

    Enzymes which use Cu as a co-factor: ceruloplasmin, cytochrome c oxidase, dopamine β-hydroxylase, superoxide dismutase and tyrosinasch  
  3. Raised AST
    post myocardial infarction
  4. Metaplasia
    - definition
    reversible change in cell type
  5. Dysplasia
    - definition
    abnormal growth with some features of malignancy but an in tact basement membrane (non-invasive)
  6. Harmartoma
    - definition
    tumour-like over growths which are not invasive
  7. Neoplasia
    - definition
    abnormal rapid prolifersation

    • Benign: well differentiated, no invasion or metastases
    • Malignant: invasive, metastatic
  8. Metastasis
    • deistinguishes benign neoplasia from malignant
    • down regulation of cadherin and up-regulation of matrix metaloproteinases allows loss of adherence and migration
    • the level of inter-cell adhesion in a carcinoma is a marker of differentiation
    • cells must regain adherence at a new site to form metastatic deposits
  9. Inherited Breast Cancer
    - genes involved
    5% of breast cancer is familial

    • 50% of inherited breast cancer is associated with
    •       BRCA1 on 17q (also colon Ca)
    •       BRCA2 on 13q (also endometrial Ca)
    •           (both also ovary and prostate Ca)
    • both are involved in cell cycle regulation and genomic integrity
  10. Retinoblastoma
    Mutation of Rb1 (13q14) removes the brakes from the cell cycle.

    • Sporadic mutations can cause 1 eyed problems
    • Hereditary mutations are bilateral and multifocal
  11. Glaucoma
  12. Duct Papilloma
  13. Budd-Chiari Syndrome
    hepatic vein thrombosis for various reasons (rare)

    Image Upload 1 veno-occlusive disease after stem-cell transplants in which sinusoidal epithelium is damaged
  14. Symptoms of Budd-Chiari Syndrome
    • rapid onset abdominal pain (distension of liver capsule or abdomen)
    • tender hepatomegaly
    • high protein ascites with distension (develops rapidly)
    • +/- jaundice
    • +/- renal or hepatic failure
    • +/- caput medusae
    • +/- splenomegaly
  15. Causes of Budd-Chiari Syndrome
    • 1. hypercoagulable states
    •     a. haematological:
    •         - polycythaemia vera, ET and MPD
    •         - deficiency of protein C, protein S, antithrombin III, factor V Leiden
    •         - PNH
    •         - after bone marrow transplants
    •     b. pregnancy
    •     c. infection: hyatid disease, amoebic abscess, aspergillus, syphillis, TB
    •     d. inflammation: IBD, sarcoid, SLE, Sjogren's, Behcet's
    •     e. malignant: hepatocellular Ca, RCC, Wilm's tumour, adrenal Ca, leiomyosarcoma
    •     f. trauma, surgery

    • 2. decreased flow
    •     - obstructions in vena cava: webs, congenital abnormality
    •     - back-pressure from heart: right heart failure, constrictive pericarditis, RA myoxma

    • 3. Drugs
    •     - COCP, HRT, urethane

    4. alpha-1 antitrypsin deficiency
  16. alpha-1 antitrypsin deficiency
  17. Wilm's tumour
  18. Colonic angiodysplasia
    1 - 5mm harmatomatous capillary lesions in colonic wall, bleed out of proportion to size.

    Presentation: PR bleeding, IDA, often normal Ix

    Aetiology: ?acquired due to tension on veins passing through muscularis

    Ix: subtraction mesenteric arteriography may show bleeding, colonsoscopy may visualise

    • Rx: colonoscopic electrical coagulation
    • (resection if this fails)
  19. Primary Biliary Cirrhosis
    chronic, progressive cholestatic liver disease

    • middle aged women (rare <30)
    • anti-mitochondrial antibodies (E2 component of pyruvate dehydrogenase complex??)

    Presentation: pruritis, fatigue, xanthelasma, hyperlipidaemia, CLD signs
  20. Primary Sclerosing Cholangitis
    chronic inflammation and fibrosis of bile ducts (aetiology unknown)

    Risk Factors: male, IBD (especially UC)

    Bloods: p-ANCA positive in 50% cases

    Liver biopsy: fibrous obliterating cholangitis, loss of interlobar and adjacent septal bile ducts

    ERCP: multiple annular strictures separated by round or slightly dilated duct segments. Intrahepatic and extrahepatic ducts have "beaded" appearance.

    Complications: strictures, cholangitis, cholangiocarcinoma
  21. Bacterial Cholangitis
    • ascending infection of bile ducts from the GI tract
    • Presentation...
    • Charcot's Triad: fever + rigors, RUQ pain, jaundice
    • Reynold's Pentad: as above + hypotension, altered mental state
  22. Distinguishing HBV from HCV
    HCV: milder clinical cause, often asymptomatic. Longer incubation. Suggested by persistent, chronic infection. (e.g. 10 years after a blood transfusion) 1 in 30 from needlesticks with positive blood.

    HBV: more easily transmissible (sex, blood, needles). 1 in 3 from needlesticks with positive blood. (HIV 1/300)

    • Viral hepatitis: ALT < AST
    • Alcoholic hepatitis: AST more than double ALT
  23. Bladder Cancer
    Risk Factors: aniline dyes, smoking

    painless or painful frank haematuria

    NB. haematuria occurs in bladder disease but no prostate disease (unless v v advanced)
  25. Viral Causes of Reactive Arthritis
    • Hep B
    • Rubella
    • Parvovirus B19
  26. Bacterial Causes of Reactive Arthritis
    • dysentery
    •     Shigella
    •     Salmonella
    •     Yersinia
    •     Campylobacter
    • urethritis
    •     Chlamydia
    •     Ureaplasma
    • Group A strep
    • Neisseria gonorrhoea
    • Brucella
    • TB (Poncet's disease)
  27. peri-infectious causes of Reactive Arthritis
    • Borrelia burgdorferi (Lyme arthritis)
    • Rheumatic fever
Card Set