MRCP Passmed bits Flashcards
Dithranol
Topical use in psoriasis
Anthracene derivative
Slows cell division in psoriatic plaques
Vitamin D analogues
(for psoriasis)
Include:
- calcipotriol (Dovonex)
- calcitriol
- tacalcitol
Work by reducing cell division and differentiation
May be used long-term
Reduce scale and thickness of plaques but not erythema
Avoid in pregnancy
Maximum weekly amount for adults is 100g
Zinc deficiency
Zinc deficiency:
-Perioral dermatitis
-acrodermatitis
-alopecia
-short stature
-hypogonadism
-hepatosplenomegaly
-geophagia (ingesting clay/soil)
-cognitive impairment
Gastric cancer associations
-H. pylori infection
-blood group A: gAstric cAncer
-gastric adenomatous polyps
-pernicious anaemia
-smoking
-diet: salty, spicy, nitrates
-may be negatively associated with duodenal ulcer
HLA-A3
Haemochromatosis
HLA-B51
Behcet’s disease
HLA-B27
- Ankylosing spondylitis
- Reiter’s syndrome
- Acute anterior uveitis
HLA-DQ2/DQ8
coeliac disease
HLA-DR2
-Narcolepsy
-Multiple sclerosis
-SLE
-Goodpasture’s
HLA-DR3
-Dermatitis herpetiformis
-Sjogren’s syndrome
-Primary biliary cirrhosis
HLA-DR4
-Type 1 diabetes mellitis (also with HLA-DR3 to a lesser degree)
-Rheumatoid arthritis - in particular DRB1 (DRB104:01 and DRB104:04)
CD1
MHC molecule - presents lipids
CD2
Thymocytes, T cells, NK cells
Ligand for CD58 and CD59
Cell signalling and cell adhesion
CD3
Signalling component of TCR complex
CD4
Helper T cells.
Co-receptor for MHC II
Used by HIV to enter T cells
CD5
Mantle-cell lymphoma
CD8
Cytotoxic T cells.
Co-receptor for MHC I
(Also on myeloid dendritic cells)
CD14
Marker for macrophages
CD15
Expressed on Reed-Sternberg cells (along with CD30)
CD16
Binds to Fc portion of IgG
CD21
EBV receptor
CD28
Interacts with B7 on APCs as costimulation signal
CD45
Protein tyrosine phosphatase
All leucocytes
CD56
Unique to NK cells
CD95
FAS receptor in apoptosis
Cell surface markers: Haematopoeietic stem cells
CD34
Cell surface markers: Helper T cell
CD4, TCR, CD3, CD28
Cell surface markers: Cytotoxic T cell
CD8, TCR, CD3, CD28
Cell surface markers: Regulatory T cell
CD4, CD25, TCR, CD3, CD28
Cell surface markers: B cell
CD19, CD20, CD40, MHC II, B7
Cell surface markers: Macrophage
CD14, CD40, MHC II, B7
Cell surface markers: Natural killer cell
CD16, CD56
Inheritence of Hereditary Haemorrhagic Telagiectasia
Autosomal Dominant
Oncogenes (gain of function > cancer)
ABL
c-MYC
n-MYC
BCL-2
RET
RAS
erb-B2 (HER2/neu)
Tumour suppressor genes (loss of function > cancer)
p53
APC
BRCA1
BRCA2
NF1
Rb
WT1
MTS 1, p16 (multiple tumor suppressor 1)
Abnormal protein in Marfan’s syndrome
Fibrillin-1
Due to defect in FBN1 gene on chromosome 15.
Autosomal dominant.
Site of origin of circulating B-type natriuretic peptide in patients with chronic heart failure
L ventricular myocardium
TNF
From macrophages.
Activates macrophages and neutrophils,
Co-stimulator for T cell activation
Extractable nuclear antigens
Examples
anti-Ro: Sjogren’s syndrome, SLE, congenital heart block
anti-La: Sjogren’s syndrome
anti-Jo 1: polymyositis
anti-scl-70: diffuse cutaneous systemic sclerosis
anti-centromere: limited cutaneous systemic sclerosis
Leflunomide
DMARD used in rheumatoid arthritis.
Long half-life and teratogenic.
Monitor FBC/LFT and blood pressure
Dermatomyositis antibodies
ANA most common
anti-Mi-2 most specific
Azathioprine: mechanism of action
Metabolised to mercaptopurine, a purine analogue that inihibits purine synthesis.
TPMT test to check for azathioprine toxicity.
Fleicanide mechanism of action
Fleicanide blocks the Nav1.5 sodium channels in the heart
Slows the upstroke of cardiac action potential
Alpha-1 adrenoceptor effects
-vasoconstriction
-relaxation of GI smooth muscle
-salivary secretion
-hepatic glycogenolysis
alpha-1:activate phospholipase C → IP3 → DAG
Alpha-2 adrenoceptor
Mainly presynaptic: inhibition of transmitter release (inc NA, Ach from autonomic nerves)
-inhibits insulin
-platelet aggregation
alpha-2: inhibit adenylate cyclase
Beta-1 adrenoceptor
mainly located in the heart
increase heart rate + force
beta-1: stimulate adenylate cyclase
Beta-2 adrenoceptor
-vasodilation
-bronchodilation
-relaxation of GI smooth muscle
beta-2: stimulate adenylate cyclase
Beta-3 adrenoceptor
lipolysis
beta-3: stimulate adenylate cyclase
Trastuzumab (Herceptin)
Monoclonal antibody against the HER2/neu receptor.
Used in metastatic breast cancer and some with early disease.
S/E:
-Flu-like symptoms & diarrhoea
-Cardiotoxocity (esp if anthracyclines have been used)
Examples of adrenoceptor AGONISTs
Alpha-1 agonists
-phenylephrine
Alpha-2 agonists
-clonidine
Beta-1 agonists
-dobutamine
Beta-2 agonists
-salbutamol
Beta-3 agonists
-being developed, may have a role in preventing obesity (stimulation causes lipolysis)
Inhibits cell wall formation
Peptidoglycan cross-linking:
-penicillins
-cephalosporins
-carbopenems
Peptidoglycan synthesis:
-glycopeptides (e.g. vancomycin)
Inhibits protein synthesis (by acting on the ribosome)
50S subunit:
- Macrolides (clarithromycin, azithromycin, erythromycin)
- Chloramphenicol
- Clindamycin
- Linezolid
- Streptogrammins
30S subunit:
- aminoglycosides
- tetracyclines
Inhibits DNA synthesis
quinolones (eg ciprofloxacin)
Damages DNA
metronidazole
Inhibits folic acid formation
sulphonamides
trimethoprim
Inhibits RNA synthesis
rifampicin
Octreotide
What is it?
Uses?
Adverse effects?
Long-acting analogue of somatostatin
Uses:
- acute variceal haemorrhage
- acromegaly
- carcinoid syndrome
- prevent complications following pancreatic surgery
- VIPomas
- refractory diarrhoea
Adverse effects:
-gallstones (secondary to biliary stasis)
Somatostatin:
Released from?
Actions?
Release from D cells of pancreas
Inhibits release of growth hormone, glucagon and insulin
infliximab
infliximab = anti-TNF
used in rheumatoid arthritis and Crohn’s
rituximab
rituximab = anti-CD20
used in non-Hodgkin’s lymphoma and rheumatoid arthritis
cetuximab
cetuximab = epidermal growth factor receptor antagonist
used in metastatic colorectal cancer & head and neck cancer
alemtuzumab
alemtuzumab = anti-CD52
used in chronic lymphocytic leukaemia
abciximab
abciximab = glycoprotein IIb/IIIa receptor antagonist
prevention of ischaemic events in patients undergoing percutaneous coronary interventions
OKT3
OKT3 = anti-CD3
used to prevent organ rejection
Fleicanide
Contraindicated in structural heart disease
Drugs affected by acetylator status (deficiency in N-acetyltransferase)
-isoniazid
-procainamide
-hydralazine
-dapsone
-sulfasalazine
Drugs causing corneal opacities
-amiodarone
-indomethacin
Drugs causing optic neuritis
-ethambutol
-amiodarone
-metronidazole
Drugs causing retinopathy
-chloroquine, quinine
Drugs causing cataracts
steroids
Sildenafil eye effects
-blue discoloration
-non-arteritic anterior ischaemic neuropathy
P450 inducers
-antiepileptics: phenytoin carbamazepine
-barbiturates
-rifampicin
-St John’s Wort
-chronic alcohol intake
-griseofulvin
-smoking
P450 inhibitors
-antibiotics: ciprofloxacin, erythromycin
-isoniazid
-cimetidine, omeprazole
-amiodarone
-allopurinol
-imidazoles: ketoconazole, fluconazole
-SSRIs
-ritonavir
-sodium valproate
-acute alcohol intake
-quinipristin
Ciclosporin: moa + side effects
Immunosuppressant.
Inhibits calcineurin, which reduces IL-2 release, and therefore decreases clonal proliferation of T cells.
Adverse effects:
-nephrotoxicity
-hepatotoxicity
-fluid retention
-hyperkalaemia
-hypertrochosis
-givival hyperplasia
Examples of adrenoceptor ANTAGONISTS
Alpha antagonists:
-alpha-1: doxazosin
-alpha-1a: tamsulosin - acts mainly on urogenital tract
-alpha-2: yohimbine
-non-selective: phenoxybenzamine (previously used in peripheral arterial disease)
Beta antagonists
-beta-1: atenolol
-non-selective: propranolol
Carvedilol and labetalol are mixed alpha and beta antagonists
Nivolumab
Nivolumab (PD-1 inhibitor)
“programmed cell death” inhibitor
Digoxin
Inhibits Na+/K+ ATPase pump.
Also stimulates vagus nerve.
Acts to increase force of contraction
Also slows AV conduction
Live attenuated vaccines
Live attenuated:
-BCG
-MMR
-influenza (intranasal)
-oral rotavirus
-oral polio
-yellow fever
-oral typhoid
Inactivated vaccines
Inactivated preparations:
-rabies
-hepatitis A
-influenza (intramuscular)
Toxoid (inactivated toxin) vaccines
Toxoid (inactivated toxin):
-tetanus
-diphtheria
-pertussis
Subunit/comjugate vaccines
Subunit = only part of pathogen used to generate immunogenic response.
Conjugate = poorly immunogenic bacterial polysaccharides linked to more immunogenic proteins
-pneumococcus (conjugate)
-haemophilus (conjugate)
-meningococcus (conjugate)
-hepatitis B
-human papillomavirus
Meningitis initial empirical therapy aged <3 months?
IV cefotaxime + amoxicillin
Meningitis - initial empirical therapy aged 3 months - 50 years?
IV cefotaxime
Meningitis - initial empirical therapy aged > 50 years?
IV cefotaxime + amoxicillin
Meningococcal meningitis - therapy?
IV benzylpenicillin or cefotaxime
Pneumococcal meningitis - therapy?
IV cefotaxime
Meningitis caused by Haemophilus influenzae - therapy?
IV cefotaxime
Meningitis caused by Listeria - therapy?
IV amoxicillin + gentamicin
Meningitis - patient with allergy to penicillin/cephalosporins?
chloramphenicol
Bactericidal antibiotics
Bactericidal antibiotics:
-penicillins
-cephalosporins
-aminoglycosides
-nitrofurantoin
-metronidazole
-quinolones
-rifampicin
-isoniazid
Bacteriostatic antibiotics
Bacteriostatic antibiotics:
-chloramphenicol
-macrolides
-tetracyclines
-sulphonamides
-trimethoprim
HBsAg
Surface antigen.
First maker to appear.
Causes production of anti-HBs
HBsAg normally implies acute disease ( present 1-6 months)
It present >6 months implies chronic disease (ie infective)
Anti-HBs
Anti-HBs implies immunity (either exposure or immunisation)
Negative in chronic disease
Anti-HBc
Anti-HBc implies previous (or current) infection
IgM anti-HBc appears during acute or recent infection and is present for about 6 months.
IgG anti-HBc persists
HBeAg
HBeAg results from breakdown of core antigen from infected liver cells - therefor is a marker of infectivity
Serology previous Hep B immunisation
anti-HBs positive
All others negative
Serology pervious Hep B > 6 months ago, not a carrier
anti-HBc positive
HBsAg negative
Serology Previous hepatitis B, now a carries
anti-HBc positive,
HBsAg positive
Vaughan Williams Ia
Ia: Block sodium channels, Increases AP duration
-Quinidine
-Pocainamide
-Disopyramide
Vaughan Williams Ib
Ib: Block sodium channels, Decreases AP duration
-Lidocaine
Vaughan Williams Ic
Ic: Block sodium channels, No effect on AP duration
- Fleicanide
Vaughan Williams II
II: Beta-adrenoceptor antagonists
-Propranolol
-Atenolol
-Bisporolol
-Metoprolol
Vaughan Williams III
III: Block potassium channels
-Amiodarone
-Sotalol
Vaughan Williams IV
IV: Calcium channel blockers
-Verapamil
-Diltiazem
Vaccines that can be used in all HIV-infected adults
-Hepatitis A
-Hepatitis B
-Haemophilus influenzae B (Hib)
-Influenza - parenteral
-Japanese encephalitis
-Meningococcus-MenC
-Meningococcus-PPV23
-Poliomyelitis - parenteral (IPV)
-Rabies
-Tetanus-Diptheria (Td)
Vaccines that can be used in HIV if CD4 > 200
-MMR
-Varicella
-Yellow Fever
Vaccines contraindicated in HIV-infected adults
-Cholera CVD103-HgR
-Influenza - intranasal
-Poliomyelitis - oral (OPV)
- Tuberculosis (BCG)
Meliodosis (Whitmore’s Disease)
gram-negative bacterium Burkholderia pseudomallei
Diabetes is strongest risk factor
Treatment:
IV ceftazidime, imipenem or meropenem
Telbivudine
Antiviral used in chronic hepatitis B infection.
Thymidine nucleoside analogue
Hydatid disease
Caused by dog tapeworm Echinococcus granulosis
Management: albendazole
Cystercosis
Caused by Taenia solium (from pork) and Taenia saginata (from beef)
Management: niclosamide
Nematodes
Ancylostoma braziliense
Strongyloides stercoralis
Toxocara canis
Acylostoma braziliense
Commonest cause of cutaneous larva migrans
Central + Southern America
Strongyloides stercoralis
Acquired percutaneously
Causes pruritis + llarva currens
Management:
-Thiabendazole, albendazole
-Ivermectin in chronic infection
Toxicara canis
Dog faeces
Commonest cause of visceral larva migrans
Splenectomy vaccination
2 weeks prior to operation if elective
Hib, meningitis A&C
Annual influenza vaccination
Pneumococcal vaccine every 5 years
Penicillin V: at least 2 years/at least until 16yo/lifelong
Gram positive bacilli
ABCD L
-Actinomyces
-Bacillus anthracis
-Clostridium
-Diptheria (corynebacterium diphteriae)
-Listeria monocytogenes
Gram-negative cocci
-Neisseria meningitidis
-Neisseria gonorrhoeae
-Moraxella catarrhalis
American trypanosomiasis
Chagas disease
Early periorbital oedema.
GI and cardiac effects
Management: azole/benznidazole or nifurtimox
African Trypanosomiasis
Sleeping sickness - Ttetse fly
Trypanosoma gambiense in West Africa
Trypanosomar rhodiuenses in East Africa
-Trypanosoma chancre - painless at site of infection
-Fever + lymphadenopathy
Management:
-Early: IV pentamidine or suramin
-Later/CNS involvment: IV melarsoprol
Primaquine
Used in non-falciparum malaria to destroy liver hypnozoites and prevent relapse
Check for G6PD deficiency prior to administration
Non-falciparum Malaria
Plasmodium vivax, Plasmodium ovale, Plasmodium malariae, Plasmodium knowlesis
Management:
- Artemisinin-based combination therapy (ACT)
-Chloroquine
-Ovale + Vivax:
Primaquine after acute treatment. Destroys liver hyponozoites and prevent relapse
Leprosy treatment
Triple therapy:
Rifampicin, dapsone and clofazimine
Listeria meningitis treatment
IV amoxicillin/ampicillin + gentamicin
Chlamydia treatment
Azithromycin (stat) or doxycycline (7 days)
Amoebiasis
Entamoeba histolytica.
Spread by faecal-oral route.
Causes Amoebic dysentery or Amoebic liver abscess
Amoebiasis diagnosis and treatment
‘hot stool’ miscroscopy may show trophozoites
serology
Treat invasive amoebiasis with metronidazole.
Followed by luminal amoebicide to eradicate cystic stage (diloxanide furoate)
granuloma inguinale causative organism
Klebsiella granulomatis
Meningitis causes 0-3 months
-Group B streptococcus (most common in neonates)
-E.coli
-Listeria monocytogenes
Meningitis causes 3 months - 6 years
-Neisseria meningitidis
-Strep pneumoniae
-Haemophilus influenzae
Meningitis causes 6 years - 6- years
-Neisseria meningitidis
-Streptococcus pneumoniae
Meningitis causes > 60 years
-Strep pneumoniae
-Neisseria meningitidis
-Listeria monocytogenes
Meningitis causes in immunosuppressed
-Listeria monocytogenes
Animal bites
Polymicrobial.
Most commonly isolated organism is Pasteurella multocida
Co-amoxiclav
Pen allergic: doxycycline + metronidazole
Orf
From sheep or goats
Parapox virus
Hands/arms: small papule > flat -topped and haemorrhagic
Terbinafine
Fungal nail infection. Taken orally.
Inhibits fungal enzyme squalene epoxidase. Causing cell death.
Syphilis testing
Serological tests include:
Cardiolipin tests (not treponeme specific)
Treponemal-specific antibody tests
Syphilis cardiolipin tests
VDRL and RPR
Insensitive in late syphilis
Become negative after treatment
Treponemal specific antibiody tests
TPHA (Treponema palidum HaemAgglutinin test)
Remains positive after treatment
Causes of false positive cardiolipin tests
-pregnancy
-SLE, anti-phospholipid syndrome
-TB
-leprosy
-malaria
-HIV
HIV anti-retrovirals which interact with P450
Nevirapine (NNRTI) - induces P450
Protease inhibitors - inhibit P450
Meningococcal meningitis contact management
Oral ciprofloxacin or rifampicin
Hospital acquired pneumonia < 5 days since admission
co-amoxiclav or cefuroxime
Hospital acquired pneumonia > 5 days since admission
piperacillin with tazobactam
OR broad-spectrum cephalosporin (ceftazidime)
OR quinolone (ciprofloxacin)
entry inhibitors
-maraviroc
-enfurvitide
NRTIs
-zidovudine
-didanosine
-lamivudine
-tenofovir
NNRTIs
-nevirapine
-efavirenze
PIs
-indinavir
-nelfinavir
-ritonavir
-saquinavir
Integrase inhibitors
-raltegravir
Schistosoma haematobium treatment
single oral dose of praziquantel
Treatment of active tuberculosis
Initial phase - 2 months of RIPE
Continuation phase - 4 months f Rifampicin and Isoniazide
Treatment for latent tuberculosis
3 months of isoniazid (with pyridoxine) and rifampicin
OR
6 months of isoniazid (with pyridoxine)
Brucellosis
Animals and unpasteurised diary.
Fluctuating fever, transient arthralgia, hyperhydrosis with wet hay smell.
Treat: Doxycycline and streptomycin
Organisms with IgA protease
Strep pneumoniae
Haemophilus influenzae
Neisseria gonorrhoeae
Organisms with M Protein
Strep pyogenes
Organisms with Polyribosyl ribitol phosphate capsule
Haemophilus influenzae
Organisms with bacteriophage
Corynebacterium diptheriae
Organisms with spore formation
Bacillus anthracis
Clostridium perfringens
Clostridium tetani
Lecithinase alpha toxin
Clostridium perfringens
D-glutamate polypeptide capsule
Bacillus anthracis
Actin rockets
Listeria monicytogenes
Power of a study
power = 1 - the probability of a type II error
Type I error
The null hypothesis is rejected when it is true
Type II error
The null hypothesis is accepted when it is false
Promote release of endothelin
-angiotensin II
-ADH
-hypoxia
-mechanical shearing force
Inhibit release of endothelin
-nitric oxide
-prostacyclin
Familial hypercholesterolaemia
Autosomal dominant
Types of helminth
Nematode (roundworm)
Cestodes (tapeworms)
Trematodes (flukes)
Nematodes
Strongyloides stercoralis
Enterobius vermicularis
Hookworm (Ancylosoma duodenale, Necator americanus)
Loa loa
Trichinella spiralis
Onchocerca volvulus
Wuchereria bancrofti
Toxocara canis (dog roundworm)
Ascaris lumbricoides (giant roundworm)
Tapeworms
Echinococcus granulosus
Taenia solium
Flukes
Schistoma haematobium
Paragonimus westermani
Clonorchis sinensis
Fasciola hepatica (liver fluke)
Cystercosis
Disease caused by Taenia solium.
Undercooked pork.
Swiss cheese appearance brain lesions
Bendazoles
Achondroplasia
Autosomal dominant
Fibroblast growth factor receptor 3 gene (FGFR-3).
Abnormal cartilage
G6PD deficiency
X-linked recessive
LMA size 1 and 2
Neonates and small children
LMA size 3
Children or adults 30-50kg (up to 20ml air in cuff)
LMA size 4
adults 50-70kg (up to 30ml of air in the cuff)
LMA size 5
adults 70-100kg (up to 40ml of air in the cuff)
Positive predictive value
PPV = True Positive / (True Positive + False Positive)
Mann-Whitney U test
Non-parametric test
Unpaired data
Spearman, Kendall rank
Non-parametric test
Correlation
Wilcoxon signed-rank test
Non-parametric test
Compares wo sets of observations on a signle sample
Chi-squared test
Non-parametric test
Used to compare proportions of percentages
Parametric tests
Student’s t-test: paired on unpaired
Pearson’s product-moment coefficient - correlation
C1 inhibitor protein deficiency
-heredirary angioedema
-C1-INH = serine protease inhibitor=likely due to bradykinin release
C1q, C1rs, C2, C4 deficiency
(classical pathway components)
-predisposes to immune complex disease
-SLE, HSP
C3 deficiency
Recurrent bacterial infections
C5 deficiency
-predisposes to Leiner disease
-recurrent diarrhoea, wasting and seborrhoeic dermatitis
C5-9 deficiency
-encodes MAC
-prone to Neisseria meningitis infection
Number need to treat
NNT = 1 / Absolute Risk Reduction
ARR = Experimental event RATE - control event RATE
(or vice versa if outcome of study is undesirable)
(Risk = event asked about, eg can be survival)
Standard error of the mean
SEM = standard deviation / square root (number of patients)
Relative risk
EER / CER
Type I hypersensitivity
Anaphylaxis
Atopy
Antigen reacts with IgE bound to mast cells
Type II hypersensitivity
Cell bound
IgG or IgM binds to antigen on cell surface
-Autoimmune haemolytic anaemia
-IT
-Goodpasture’s
-Pernicious aneamia
-Acute haemlytic transfusion reactions
-Rheumatic fever
-Phemphgus vulgaris/bullous pemphigoid
Type III hypersensitivity
Free antigen and antibody combine
- Serum sickness
-SLE
-Post-streptococcal glomerulonephritis
-EEA (acute phase)
Type IV hypersensitivity
T-cell mediated
-TB/tuberculin skin reaction
-GVHD
-Allergic contact dermatitis
-Scabies
-EEA (chronic phase)
-MS
-Guillain-Barre syndrome
Type V hypersensitivity
Antibodies recognise and bind to cell surface receptors.
Stimulate receptors or block ligand binding
-Graves’ disease
-Myasthenia gravis
Musculocutaneous nerve
(Motor)
(C5 - C7)
Elbow flexion
(supplies biceps brachii)
Supination
Axillary nerve
(Motor)
(C5, C6)
Should abduction (deltoid muscle)
Radial nerve (motor)
(C5 - C8)
Extension: forearm, wrist, fingers, thumb
Median nerve (motor)
(C6, C8, T1)
LOAF muscles
Wrist lesion > paralysis of thenar muscles, opponens pollicis
Elbow lesion > loss of pronation and weak wrist flexion
Ulnar nerve (motor)
(C8, T1)
Intrinsic hand muscles except LOAF
Wrist flexion
Long thoracic nerve (motor)
(C5 - C7)
Serratus anterior
Normal distribution and SD
68.3% of values within 1 SD of the mean
95.4% of values within 2 SD of the mean
99.7% of values within 3 SD of the mean
Within 1.96 SD of the mean lie 95% of sample values
Rickettsiae
Gram-negative obligate itracellular parasites.
Rickettsia Ricketsii - Rocky Mountain spotted fever
Coxiella burnetti - Q fever
Rickettsia typhi - Endemic typhus
Rickettsia prowazekii - Epidemic typhus
Ehrlichia - Ehrlichliosis
Rocky mountain spotted fever
Rickettsia ricketsii
Tick-borne
East coast of US
Headache, fever and rash spreading centrally from peripheries.
Q fever
Coxiella burnetti
No vector
Pneumonia, no rash.
Endemic typhus
Rickettsia typhi.
Spread by flea.
Rash starts centrally then spread to peripheries.
Epidemic typhus
Rickettsia prowazekii
Via human body louse
Ehrlichliosis
Ehrlichia
Tick-borne
Autosomal recessive conditions
Metabolic conditions
Exceptions: inherited ataxias
Autosomal dominant conditions
Structural conditions
Exceptions:
- Gilbert’s
-hyperlipidaemia type II
Kearns-Sayre syndrome
Mitochondrial inheritance
-Onset < 20 years old
-external opthalmoplegia
-retinits pigmentosa
Positive predictive value
The chance that the patient has the condition if the diagnostic test is positive
TP / (TP + FP)
Negative predictive value
The chance that the patient does not have the condition if the test is negative
TN / (TN + FN)
Sensitivity
Proportion of patients with the condition who have a positive test result
TP / (TP + FN)
Specificity
Proportion of patients without the condition who have a negative test result
TN / (TN + FP)
Likelihood ratio for a positive test result
How much the odds of the disease increase when a test is positive
sensitivity / (1 - specificity)
Likelihood ratio for a negative test result
How much the odds of the disease decrease when a test is negative
(1 - sensitivity) / specificity
Tay-Sachs
Lysosomal storage disease
Hexosaminidase A
-developmental delay
-cherry red spots on macula
-without hepatosplenomegaly
Gaucher’s disease
Lysosomal storage disease
Defect in Beta-glucocerebrosidase
-hepatosplenomegaly
-aseptic necrosis of the femur
Niemann-Pick disease
Lysosomal storage disease
defect in Sphingomyelinase
-hepatosplenomegaly
-cherry red spot on macula
Fabry disease
Lysosomal storage disease
alpha-galactosidase A
-angiokeratomas
-peripheral neuropathy of extremeties
-renal failure
Krabbe’s disease
Lysosomal storage disease
galactocerebrosidase
-peripheral neuropathy
-optic atrophy
-globoid cells
Metachromatic leukodystrophy
Lysosomal storage disease
Arylsulfatase A
-demyelination of CNS + PNS
Hurler syndrome
Mucopolysaccharidosis type 1
alpha-1-idurnidase
-gargoylism
-hepatosplenomegaly
-corneal clouding
Hunter syndrome
Mucopolysaccharidosis type 1
iduronate sulfatase
-course facial features
-learning difficulty
-short stature
-no corneal clouding
Von Gierke’s disease
Glycogen storage disease type I
Glucose-6-phosphatase
Hypoglycaemia
Lactic acidosis
Hepatomegaly
Pompe’s disease
Glycogen storage disease type II
Lysosomal alpha-1,4-glucosidase
Cardiomegaly
Cori disease
Glycogen storage disease type III
Alpha-1,6-glucosidase
Muscle hypotonia
McArdle’s disease
Glycogen storage disease type III
Glycogen phosphorylase
Myalgia
Myoglobinuria with exercise
Azathioprine side effects
- bone marrow depression
- nausea/vomiting
- pancreatitis
- increased risk non-melanoma skin cnacer