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Meded Path Lectures > Annoying path > Flashcards

Annoying path Flashcards

1
Q

Porphyria

Acute neurovisceral attack with no skin symptoms

A

Acute intermittent porphyria

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2
Q

Porphyria

Neurovisceral attack with skin symptoms

A

Variegate Porphyria

Hereditary Coproporphyria

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3
Q

Porphyria

Skin symptoms with blistering

A

Porphyria Cutanea Tarda

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4
Q

Porphyria Skin symptoms no blistering

A

Erythropoeitic Protoporphyria

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5
Q

Which enzyme is deficient in PCT

A

Uroporphyrinogen Decarboxylase

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6
Q

Which enzyme is deficient in Acute intermittent porphyria?

A

HMB Synthase

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7
Q

Positive predictive value

A

True +ve / Total +ve

Chances of having disease if test positive

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8
Q

Negative Predictive Value

A

True -ve / Total -ve

Chances of not having the disease if test negative

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9
Q

Sensitivity

A

True +ve / Total Disease

Chances of testing positive if you have the disease

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10
Q

Specificity

A

True -ve / Total

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

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11
Q

How does Phenylketonuria present, and which enzyme is deficient?

A

High blood phenylalanine leads to mental retardation

Phenylalanine Hydroxylase

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12
Q

Which marker is high in a neonate with Cystic Fibrosis?

A

Immune Reacrtive Trypsin

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13
Q

How does Homocystinuria present?

A

Lens Dislocation
Mental retardation
Thromboembolism

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14
Q

How does Vitamin A/Retinol deficiency present?

A

Night/Colour Blindness

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15
Q

How does Vitamin D/Cholecalciferol deficiency present?

A

Osteomalacia/Rickets

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16
Q

How does Vitamin B1/Thiamin Deficiency present

A

Beri Beri

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17
Q

How does Vitamin B12/Cobalamin Deficiency present?

A

Pernicious Anaemia

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18
Q

How does Vitamin B3/Niacin Deficiency present?

A

Pellagra

Dermatitis, Diarrhoea, Dementia

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19
Q

How is ITP managed?

A

Steroids + IVIG (If bleeding)

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20
Q

How are Haemophilias inherited?

A

X-Linked Recessive

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21
Q

How is von Willebrand Disease inherited?

A

Autosomal Dominant

22
Q

How are the types of vWD distinguished?

A 
1 = Partial Quantitative Deficiency 
2 = Qualitative Deficiency 
3 = Total Quantitative Deficiency
23
Q

How do we obtain Vitamin K?

A

Green Vegetables

Synthesised by intestinal flora

24
Q

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

A

II, VII, IX, X, XI, Fibrinogen

25
Q

How is warfarin overdose managed?

A

Check INR

Omit dose, vitamin K, PCC/FFP if severe bleeding

26
Q

How do Janus Kinases lead to myeloid pathology?

A

JAK2

Phosphorylation leads to myeloid cell proliferation

27
Q

How does Polycythaemia Rubra Vera present?

A

Symptoms of hyper-viscosity = Headache, stroke, visual disturbances

Symptoms of histamine release = Aquagenic Pruritus , Peptic Ulcers

May see splenomegaly, gout, red painful extremities

28
Q

Which mutation is diagnostic of Polycythaemia Rubra Vera?

A

JAK 2 V617F

29
Q

How is a true polycythaemia identified?

A

Increased blood volume

Normal/Decreased = Pseudopolycythaemia

30
Q

What may cause a JAK 2 negative true polycythaemia?

A

Hypoxia
Renal Disease
Tumours
Familial

31
Q

What is the aim of polycythaemia treatment?

A

Maintain Hematocrit below 45%

Keep platelets below 400x10^9

32
Q

What is Essential Thrombocythaemia?

A

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

33
Q

What is Chronic idiopathic myelofibrosis?

A

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

34
Q

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

A

Leucoerythroblastic Picture

Tear Drop Poikilocytes

35
Q

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

A

Dry Tap

36
Q

What is the most common cause of osteomyelitis?

A

Staph. aureus

37
Q

Which organism causes ostemyelitis in:

a) SCD
b) IVDU?

A

a) Salmonella enteritides

b) Pseudomonas aeruginosa

38
Q

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

A

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

39
Q

How is osteomyelitis staged?

A

Cierny-Mader System

40
Q

Give 2, more rare, causes of Osteomyelitis

A

TB

Syphilis

41
Q

Which organism causes Lyme Disease?

A

Borrelia burgdorferi

Tick = Ixodes dammini

42
Q

Which skin rash is pathognomonic for Lyme Disease?

A

Erythema Chronicum Migrans

43
Q

What are the stages of Lyme Disease?

A 
1 = Local, rash 
2 = Early disseminated, multi system
3 = Late, mainly arthritis
44
Q

What are the key HLA associations of Rheumatoid Arthritis?

A

DR1

DR4

45
Q

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

A 
Proliferative Synovitis (Grimley-Sokoloff Cells) 
Inflammatory infiltrate 
Joint destruction
46
Q

Describe the lesions seen in gout

A

Needle shaped crystals

Tophus = lesion

47
Q

How is Gilbert’s inherited?

A

Autosomal Recessive

48
Q

Which enzyme is implicated in Gilbert’s?

A

UDP glucoronyl transferase

49
Q

What are the key histological features of alcoholic hepatitis?

A

Liver cell ballooning

Mallory-denk bodies

50
Q

How are Infectious GI syndromes classified?

A 
Secretory = No fever, no WCC in stool
Inflammatory = Fever, Neutrophils in stool
Enteric = Fever, Lymphocytes in stool
51
Q

Staphylococcus gram staining

A

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

Meded Path Lectures (15 decks)

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