Annoying path Flashcards by Elliot Colman

Porphyria

Acute neurovisceral attack with no skin symptoms

Acute intermittent porphyria

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Porphyria

Neurovisceral attack with skin symptoms

Variegate Porphyria

Hereditary Coproporphyria

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Porphyria

Skin symptoms with blistering

Porphyria Cutanea Tarda

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Porphyria Skin symptoms no blistering

Erythropoeitic Protoporphyria

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Which enzyme is deficient in PCT

Uroporphyrinogen Decarboxylase

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Which enzyme is deficient in Acute intermittent porphyria?

HMB Synthase

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Positive predictive value

True +ve / Total +ve

Chances of having disease if test positive

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Negative Predictive Value

True -ve / Total -ve

Chances of not having the disease if test negative

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Sensitivity

True +ve / Total Disease

Chances of testing positive if you have the disease

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Specificity

True -ve / Total

Chances of testing negative if you don’t have the disease

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How does Phenylketonuria present, and which enzyme is deficient?

High blood phenylalanine leads to mental retardation

Phenylalanine Hydroxylase

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Which marker is high in a neonate with Cystic Fibrosis?

Immune Reacrtive Trypsin

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How does Homocystinuria present?

Lens Dislocation
Mental retardation
Thromboembolism

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How does Vitamin A/Retinol deficiency present?

Night/Colour Blindness

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How does Vitamin D/Cholecalciferol deficiency present?

Osteomalacia/Rickets

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How does Vitamin B1/Thiamin Deficiency present

Beri Beri

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How does Vitamin B12/Cobalamin Deficiency present?

Pernicious Anaemia

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How does Vitamin B3/Niacin Deficiency present?

Pellagra

Dermatitis, Diarrhoea, Dementia

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How is ITP managed?

Steroids + IVIG (If bleeding)

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How are Haemophilias inherited?

X-Linked Recessive

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How is von Willebrand Disease inherited?

Autosomal Dominant

How are the types of vWD distinguished?

1 = Partial Quantitative Deficiency 
2 = Qualitative Deficiency 
3 = Total Quantitative Deficiency

How do we obtain Vitamin K?

Green Vegetables

Synthesised by intestinal flora

Which clotting factors’ synthesis are decreased in patients with Liver Disease?

II, VII, IX, X, XI, Fibrinogen

How is warfarin overdose managed?

Check INR | Omit dose, vitamin K, PCC/FFP if severe bleeding

How do Janus Kinases lead to myeloid pathology?

JAK2 | Phosphorylation leads to myeloid cell proliferation

How does Polycythaemia Rubra Vera present?

Symptoms of hyper-viscosity = Headache, stroke, visual disturbances Symptoms of histamine release = Aquagenic Pruritus , Peptic Ulcers May see splenomegaly, gout, red painful extremities

Which mutation is diagnostic of Polycythaemia Rubra Vera?

JAK 2 V617F

How is a true polycythaemia identified?

Increased blood volume | Normal/Decreased = Pseudopolycythaemia

What may cause a JAK 2 negative true polycythaemia?

Hypoxia Renal Disease Tumours Familial

What is the aim of polycythaemia treatment?

Maintain Hematocrit below 45% | Keep platelets below 400x10^9

What is Essential Thrombocythaemia?

Sustained thrombocytosis with no evidence of inflammation, infection, neoplasia or splenectomy

What is Chronic idiopathic myelofibrosis?

Megakaryocyte and Granulocyte proliferation, with reactive bone marrow fibrosis and haematopoieisis

What may be seen on blood film of a patient with chronic idiopathic myelofibrosis?

Leucoerythroblastic Picture | Tear Drop Poikilocytes

What may be seen on bone marrow biopsy of a patient with chronic idiopathic myelofibrosis?

Dry Tap

What is the most common cause of osteomyelitis?

Staph. aureus

Which organism causes ostemyelitis in: a) SCD b) IVDU?

a) Salmonella enteritides | b) Pseudomonas aeruginosa

What can be seen on x ray of a patient with osteomyleitis 10days post-onset?

Mottled rarefaction and lifting of the periosteum Involcrum (irregular new bone) Sequestra (Detached necrotic cortex)

How is osteomyelitis staged?

Cierny-Mader System

Give 2, more rare, causes of Osteomyelitis

TB | Syphilis

Which organism causes Lyme Disease?

Borrelia burgdorferi | Tick = Ixodes dammini

Which skin rash is pathognomonic for Lyme Disease?

Erythema Chronicum Migrans

What are the stages of Lyme Disease?

``` 1 = Local, rash 2 = Early disseminated, multi system 3 = Late, mainly arthritis ```

What are the key HLA associations of Rheumatoid Arthritis?

DR1 | DR4

What is scene on histology of a patient with Rheumatoid Arthritis?

``` Proliferative Synovitis (Grimley-Sokoloff Cells) Inflammatory infiltrate Joint destruction ```

Describe the lesions seen in gout

Needle shaped crystals | Tophus = lesion

How is Gilbert's inherited?

Autosomal Recessive

Which enzyme is implicated in Gilbert's?

UDP glucoronyl transferase

What are the key histological features of alcoholic hepatitis?

Liver cell ballooning | Mallory-denk bodies

How are Infectious GI syndromes classified?

``` Secretory = No fever, no WCC in stool Inflammatory = Fever, Neutrophils in stool Enteric = Fever, Lymphocytes in stool ```

Staphylococcus gram staining

Gram Positive coccus Catalase +ve Coagulase +ve Appears in tetrads/clusters