MRCP Passmed bits Flashcards

1
Q

Dithranol

A

Topical use in psoriasis

Anthracene derivative
Slows cell division in psoriatic plaques

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2
Q

Vitamin D analogues
(for psoriasis)

A

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

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3
Q

Zinc deficiency

A

Zinc deficiency:

-Perioral dermatitis
-acrodermatitis
-alopecia
-short stature
-hypogonadism
-hepatosplenomegaly
-geophagia (ingesting clay/soil)
-cognitive impairment

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4
Q

Gastric cancer associations

A

-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

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5
Q

HLA-A3

A

Haemochromatosis

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6
Q

HLA-B51

A

Behcet’s disease

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7
Q

HLA-B27

A
  • Ankylosing spondylitis
  • Reiter’s syndrome
  • Acute anterior uveitis
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8
Q

HLA-DQ2/DQ8

A

coeliac disease

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9
Q

HLA-DR2

A

-Narcolepsy
-Multiple sclerosis
-SLE
-Goodpasture’s

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10
Q

HLA-DR3

A

-Dermatitis herpetiformis
-Sjogren’s syndrome
-Primary biliary cirrhosis

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11
Q

HLA-DR4

A

-Type 1 diabetes mellitis (also with HLA-DR3 to a lesser degree)

-Rheumatoid arthritis - in particular DRB1 (DRB104:01 and DRB104:04)

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12
Q

CD1

A

MHC molecule - presents lipids

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13
Q

CD2

A

Thymocytes, T cells, NK cells

Ligand for CD58 and CD59

Cell signalling and cell adhesion

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14
Q

CD3

A

Signalling component of TCR complex

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15
Q

CD4

A

Helper T cells.
Co-receptor for MHC II
Used by HIV to enter T cells

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16
Q

CD5

A

Mantle-cell lymphoma

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17
Q

CD8

A

Cytotoxic T cells.

Co-receptor for MHC I

(Also on myeloid dendritic cells)

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18
Q

CD14

A

Marker for macrophages

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19
Q

CD15

A

Expressed on Reed-Sternberg cells (along with CD30)

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20
Q

CD16

A

Binds to Fc portion of IgG

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21
Q

CD21

A

EBV receptor

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22
Q

CD28

A

Interacts with B7 on APCs as costimulation signal

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23
Q

CD45

A

Protein tyrosine phosphatase

All leucocytes

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24
Q

CD56

A

Unique to NK cells

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25
CD95
FAS receptor in apoptosis
26
Cell surface markers: Haematopoeietic stem cells
CD34
27
Cell surface markers: Helper T cell
CD4, TCR, CD3, CD28
28
Cell surface markers: Cytotoxic T cell
CD8, TCR, CD3, CD28
29
Cell surface markers: Regulatory T cell
CD4, CD25, TCR, CD3, CD28
30
Cell surface markers: B cell
CD19, CD20, CD40, MHC II, B7
31
Cell surface markers: Macrophage
CD14, CD40, MHC II, B7
32
Cell surface markers: Natural killer cell
CD16, CD56
33
Inheritence of Hereditary Haemorrhagic Telagiectasia
Autosomal Dominant
34
Oncogenes (gain of function > cancer)
ABL c-MYC n-MYC BCL-2 RET RAS erb-B2 (HER2/neu)
35
Tumour suppressor genes (loss of function > cancer)
p53 APC BRCA1 BRCA2 NF1 Rb WT1 MTS 1, p16 (multiple tumor suppressor 1)
36
Abnormal protein in Marfan's syndrome
Fibrillin-1 Due to defect in FBN1 gene on chromosome 15. Autosomal dominant.
37
Site of origin of circulating B-type natriuretic peptide in patients with chronic heart failure
L ventricular myocardium
38
TNF
From macrophages. Activates macrophages and neutrophils, Co-stimulator for T cell activation
39
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
40
Leflunomide
DMARD used in rheumatoid arthritis. Long half-life and teratogenic. Monitor FBC/LFT and blood pressure
41
Dermatomyositis antibodies
ANA most common anti-Mi-2 most specific
42
Azathioprine: mechanism of action
Metabolised to mercaptopurine, a purine analogue that inihibits purine synthesis. TPMT test to check for azathioprine toxicity.
43
Fleicanide mechanism of action
Fleicanide blocks the Nav1.5 sodium channels in the heart Slows the upstroke of cardiac action potential
44
Alpha-1 adrenoceptor effects
-vasoconstriction -relaxation of GI smooth muscle -salivary secretion -hepatic glycogenolysis alpha-1:activate phospholipase C → IP3 → DAG
45
Alpha-2 adrenoceptor
Mainly presynaptic: inhibition of transmitter release (inc NA, Ach from autonomic nerves) -inhibits insulin -platelet aggregation alpha-2: inhibit adenylate cyclase
46
Beta-1 adrenoceptor
mainly located in the heart increase heart rate + force beta-1: stimulate adenylate cyclase
47
Beta-2 adrenoceptor
-vasodilation -bronchodilation -relaxation of GI smooth muscle beta-2: stimulate adenylate cyclase
48
Beta-3 adrenoceptor
lipolysis beta-3: stimulate adenylate cyclase
49
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)
50
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)
51
Inhibits cell wall formation
Peptidoglycan cross-linking: -penicillins -cephalosporins -carbopenems Peptidoglycan synthesis: -glycopeptides (e.g. vancomycin)
52
Inhibits protein synthesis (by acting on the ribosome)
50S subunit: - Macrolides (clarithromycin, azithromycin, erythromycin) - Chloramphenicol - Clindamycin - Linezolid - Streptogrammins 30S subunit: - aminoglycosides - tetracyclines
53
Inhibits DNA synthesis
quinolones (eg ciprofloxacin)
54
Damages DNA
metronidazole
55
Inhibits folic acid formation
sulphonamides trimethoprim
56
Inhibits RNA synthesis
rifampicin
57
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)
58
Somatostatin: Released from? Actions?
Release from D cells of pancreas Inhibits release of growth hormone, glucagon and insulin
59
infliximab
infliximab = anti-TNF used in rheumatoid arthritis and Crohn's
60
rituximab
rituximab = anti-CD20 used in non-Hodgkin's lymphoma and rheumatoid arthritis
61
cetuximab
cetuximab = epidermal growth factor receptor antagonist used in metastatic colorectal cancer & head and neck cancer
62
alemtuzumab
alemtuzumab = anti-CD52 used in chronic lymphocytic leukaemia
63
abciximab
abciximab = glycoprotein IIb/IIIa receptor antagonist prevention of ischaemic events in patients undergoing percutaneous coronary interventions
64
OKT3
OKT3 = anti-CD3 used to prevent organ rejection
65
Fleicanide
Contraindicated in structural heart disease
66
Drugs affected by acetylator status (deficiency in N-acetyltransferase)
-isoniazid -procainamide -hydralazine -dapsone -sulfasalazine
67
Drugs causing corneal opacities
-amiodarone -indomethacin
68
Drugs causing optic neuritis
-ethambutol -amiodarone -metronidazole
69
Drugs causing retinopathy
-chloroquine, quinine
70
Drugs causing cataracts
steroids
71
Sildenafil eye effects
-blue discoloration -non-arteritic anterior ischaemic neuropathy
72
P450 inducers
-antiepileptics: phenytoin carbamazepine -barbiturates -rifampicin -St John's Wort -chronic alcohol intake -griseofulvin -smoking
73
P450 inhibitors
-antibiotics: ciprofloxacin, erythromycin -isoniazid -cimetidine, omeprazole -amiodarone -allopurinol -imidazoles: ketoconazole, fluconazole -SSRIs -ritonavir -sodium valproate -acute alcohol intake -quinipristin
74
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
75
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
76
Nivolumab
Nivolumab (PD-1 inhibitor) "programmed cell death" inhibitor
77
Digoxin
Inhibits Na+/K+ ATPase pump. Also stimulates vagus nerve. Acts to increase force of contraction Also slows AV conduction
78
Live attenuated vaccines
Live attenuated: -BCG -MMR -influenza (intranasal) -oral rotavirus -oral polio -yellow fever -oral typhoid
79
Inactivated vaccines
Inactivated preparations: -rabies -hepatitis A -influenza (intramuscular)
80
Toxoid (inactivated toxin) vaccines
Toxoid (inactivated toxin): -tetanus -diphtheria -pertussis
81
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
82
Meningitis initial empirical therapy aged <3 months?
IV cefotaxime + amoxicillin
83
Meningitis - initial empirical therapy aged 3 months - 50 years?
IV cefotaxime
84
Meningitis - initial empirical therapy aged > 50 years?
IV cefotaxime + amoxicillin
85
Meningococcal meningitis - therapy?
IV benzylpenicillin or cefotaxime
86
Pneumococcal meningitis - therapy?
IV cefotaxime
87
Meningitis caused by Haemophilus influenzae - therapy?
IV cefotaxime
88
Meningitis caused by Listeria - therapy?
IV amoxicillin + gentamicin
89
Meningitis - patient with allergy to penicillin/cephalosporins?
chloramphenicol
90
Bactericidal antibiotics
Bactericidal antibiotics: -penicillins -cephalosporins -aminoglycosides -nitrofurantoin -metronidazole -quinolones -rifampicin -isoniazid
91
Bacteriostatic antibiotics
Bacteriostatic antibiotics: -chloramphenicol -macrolides -tetracyclines -sulphonamides -trimethoprim
92
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)
93
Anti-HBs
Anti-HBs implies immunity (either exposure or immunisation) Negative in chronic disease
94
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
95
HBeAg
HBeAg results from breakdown of core antigen from infected liver cells - therefor is a marker of infectivity
96
Serology previous Hep B immunisation
anti-HBs positive All others negative
97
Serology pervious Hep B > 6 months ago, not a carrier
anti-HBc positive HBsAg negative
98
Serology Previous hepatitis B, now a carries
anti-HBc positive, HBsAg positive
99
Vaughan Williams Ia
Ia: Block sodium channels, Increases AP duration -Quinidine -Pocainamide -Disopyramide
100
Vaughan Williams Ib
Ib: Block sodium channels, Decreases AP duration -Lidocaine
101
Vaughan Williams Ic
Ic: Block sodium channels, No effect on AP duration - Fleicanide
102
Vaughan Williams II
II: Beta-adrenoceptor antagonists -Propranolol -Atenolol -Bisporolol -Metoprolol
103
Vaughan Williams III
III: Block potassium channels -Amiodarone -Sotalol
104
Vaughan Williams IV
IV: Calcium channel blockers -Verapamil -Diltiazem
105
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)
106
Vaccines that can be used in HIV if CD4 > 200
-MMR -Varicella -Yellow Fever
107
Vaccines contraindicated in HIV-infected adults
-Cholera CVD103-HgR -Influenza - intranasal -Poliomyelitis - oral (OPV) - Tuberculosis (BCG)
108
Meliodosis (Whitmore's Disease)
gram-negative bacterium Burkholderia pseudomallei Diabetes is strongest risk factor Treatment: IV ceftazidime, imipenem or meropenem
109
Telbivudine
Antiviral used in chronic hepatitis B infection. Thymidine nucleoside analogue
110
Hydatid disease
Caused by dog tapeworm Echinococcus granulosis Management: albendazole
111
Cystercosis
Caused by Taenia solium (from pork) and Taenia saginata (from beef) Management: niclosamide
112
Nematodes
Ancylostoma braziliense Strongyloides stercoralis Toxocara canis
113
Acylostoma braziliense
Commonest cause of cutaneous larva migrans Central + Southern America
114
Strongyloides stercoralis
Acquired percutaneously Causes pruritis + llarva currens Management: -Thiabendazole, albendazole -Ivermectin in chronic infection
115
Toxicara canis
Dog faeces Commonest cause of visceral larva migrans
116
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
117
Gram positive bacilli
ABCD L -Actinomyces -Bacillus anthracis -Clostridium -Diptheria (corynebacterium diphteriae) -Listeria monocytogenes
118
Gram-negative cocci
-Neisseria meningitidis -Neisseria gonorrhoeae -Moraxella catarrhalis
119
American trypanosomiasis
Chagas disease Early periorbital oedema. GI and cardiac effects Management: azole/benznidazole or nifurtimox
120
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
121
Primaquine
Used in non-falciparum malaria to destroy liver hypnozoites and prevent relapse Check for G6PD deficiency prior to administration
122
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
123
Leprosy treatment
Triple therapy: Rifampicin, dapsone and clofazimine
124
Listeria meningitis treatment
IV amoxicillin/ampicillin + gentamicin
125
Chlamydia treatment
Azithromycin (stat) or doxycycline (7 days)
126
Amoebiasis
Entamoeba histolytica. Spread by faecal-oral route. Causes Amoebic dysentery or Amoebic liver abscess
127
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)
128
granuloma inguinale causative organism
Klebsiella granulomatis
129
Meningitis causes 0-3 months
-Group B streptococcus (most common in neonates) -E.coli -Listeria monocytogenes
130
Meningitis causes 3 months - 6 years
-Neisseria meningitidis -Strep pneumoniae -Haemophilus influenzae
131
Meningitis causes 6 years - 6- years
-Neisseria meningitidis -Streptococcus pneumoniae
132
Meningitis causes > 60 years
-Strep pneumoniae -Neisseria meningitidis -Listeria monocytogenes
133
Meningitis causes in immunosuppressed
-Listeria monocytogenes
134
Animal bites
Polymicrobial. Most commonly isolated organism is Pasteurella multocida Co-amoxiclav Pen allergic: doxycycline + metronidazole
135
Orf
From sheep or goats Parapox virus Hands/arms: small papule > flat -topped and haemorrhagic
136
Terbinafine
Fungal nail infection. Taken orally. Inhibits fungal enzyme squalene epoxidase. Causing cell death.
137
Syphilis testing
Serological tests include: Cardiolipin tests (not treponeme specific) Treponemal-specific antibody tests
138
Syphilis cardiolipin tests
VDRL and RPR Insensitive in late syphilis Become negative after treatment
139
Treponemal specific antibiody tests
TPHA (Treponema palidum HaemAgglutinin test) Remains positive after treatment
140
Causes of false positive cardiolipin tests
-pregnancy -SLE, anti-phospholipid syndrome -TB -leprosy -malaria -HIV
141
HIV anti-retrovirals which interact with P450
Nevirapine (NNRTI) - induces P450 Protease inhibitors - inhibit P450
142
Meningococcal meningitis contact management
Oral ciprofloxacin or rifampicin
143
Hospital acquired pneumonia < 5 days since admission
co-amoxiclav or cefuroxime
144
Hospital acquired pneumonia > 5 days since admission
piperacillin with tazobactam OR broad-spectrum cephalosporin (ceftazidime) OR quinolone (ciprofloxacin)
145
entry inhibitors
-maraviroc -enfurvitide
146
NRTIs
-zidovudine -didanosine -lamivudine -tenofovir
147
NNRTIs
-nevirapine -efavirenze
148
PIs
-indinavir -nelfinavir -ritonavir -saquinavir
149
Integrase inhibitors
-raltegravir
150
Schistosoma haematobium treatment
single oral dose of praziquantel
151
Treatment of active tuberculosis
Initial phase - 2 months of RIPE Continuation phase - 4 months f Rifampicin and Isoniazide
152
Treatment for latent tuberculosis
3 months of isoniazid (with pyridoxine) and rifampicin OR 6 months of isoniazid (with pyridoxine)
153
Brucellosis
Animals and unpasteurised diary. Fluctuating fever, transient arthralgia, hyperhydrosis with wet hay smell. Treat: Doxycycline and streptomycin
154
Organisms with IgA protease
Strep pneumoniae Haemophilus influenzae Neisseria gonorrhoeae
155
Organisms with M Protein
Strep pyogenes
156
Organisms with Polyribosyl ribitol phosphate capsule
Haemophilus influenzae
157
Organisms with bacteriophage
Corynebacterium diptheriae
158
Organisms with spore formation
Bacillus anthracis Clostridium perfringens Clostridium tetani
159
Lecithinase alpha toxin
Clostridium perfringens
160
D-glutamate polypeptide capsule
Bacillus anthracis
161
Actin rockets
Listeria monicytogenes
162
Power of a study
power = 1 - the probability of a type II error
163
Type I error
The null hypothesis is rejected when it is true
164
Type II error
The null hypothesis is accepted when it is false
165
Promote release of endothelin
-angiotensin II -ADH -hypoxia -mechanical shearing force
166
Inhibit release of endothelin
-nitric oxide -prostacyclin
167
Familial hypercholesterolaemia
Autosomal dominant
168
Types of helminth
Nematode (roundworm) Cestodes (tapeworms) Trematodes (flukes)
169
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)
170
Tapeworms
Echinococcus granulosus Taenia solium
171
Flukes
Schistoma haematobium Paragonimus westermani Clonorchis sinensis Fasciola hepatica (liver fluke)
172
Cystercosis
Disease caused by Taenia solium. Undercooked pork. Swiss cheese appearance brain lesions Bendazoles
173
Achondroplasia
Autosomal dominant Fibroblast growth factor receptor 3 gene (FGFR-3). Abnormal cartilage
174
G6PD deficiency
X-linked recessive
175
LMA size 1 and 2
Neonates and small children
176
LMA size 3
Children or adults 30-50kg (up to 20ml air in cuff)
177
LMA size 4
adults 50-70kg (up to 30ml of air in the cuff)
178
LMA size 5
adults 70-100kg (up to 40ml of air in the cuff)
179
Positive predictive value
PPV = True Positive / (True Positive + False Positive)
180
Mann-Whitney U test
Non-parametric test Unpaired data
181
Spearman, Kendall rank
Non-parametric test Correlation
182
Wilcoxon signed-rank test
Non-parametric test Compares wo sets of observations on a signle sample
183
Chi-squared test
Non-parametric test Used to compare proportions of percentages
184
Parametric tests
Student's t-test: paired on unpaired Pearson's product-moment coefficient - correlation
185
C1 inhibitor protein deficiency
-heredirary angioedema -C1-INH = serine protease inhibitor=likely due to bradykinin release
186
C1q, C1rs, C2, C4 deficiency
(classical pathway components) -predisposes to immune complex disease -SLE, HSP
187
C3 deficiency
Recurrent bacterial infections
188
C5 deficiency
-predisposes to Leiner disease -recurrent diarrhoea, wasting and seborrhoeic dermatitis
189
C5-9 deficiency
-encodes MAC -prone to Neisseria meningitis infection
190
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)
191
Standard error of the mean
SEM = standard deviation / square root (number of patients)
192
Relative risk
EER / CER
193
Type I hypersensitivity
Anaphylaxis Atopy Antigen reacts with IgE bound to mast cells
194
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
195
Type III hypersensitivity
Free antigen and antibody combine - Serum sickness -SLE -Post-streptococcal glomerulonephritis -EEA (acute phase)
196
Type IV hypersensitivity
T-cell mediated -TB/tuberculin skin reaction -GVHD -Allergic contact dermatitis -Scabies -EEA (chronic phase) -MS -Guillain-Barre syndrome
197
Type V hypersensitivity
Antibodies recognise and bind to cell surface receptors. Stimulate receptors or block ligand binding -Graves' disease -Myasthenia gravis
198
Musculocutaneous nerve (Motor)
(C5 - C7) Elbow flexion (supplies biceps brachii) Supination
199
Axillary nerve (Motor)
(C5, C6) Should abduction (deltoid muscle)
200
Radial nerve (motor)
(C5 - C8) Extension: forearm, wrist, fingers, thumb
201
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
202
Ulnar nerve (motor)
(C8, T1) Intrinsic hand muscles except LOAF Wrist flexion
203
Long thoracic nerve (motor)
(C5 - C7) Serratus anterior
204
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
205
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
206
Rocky mountain spotted fever
Rickettsia ricketsii Tick-borne East coast of US Headache, fever and rash spreading centrally from peripheries.
207
Q fever
Coxiella burnetti No vector Pneumonia, no rash.
208
Endemic typhus
Rickettsia typhi. Spread by flea. Rash starts centrally then spread to peripheries.
209
Epidemic typhus
Rickettsia prowazekii Via human body louse
210
Ehrlichliosis
Ehrlichia Tick-borne
211
Autosomal recessive conditions
Metabolic conditions Exceptions: inherited ataxias
212
Autosomal dominant conditions
Structural conditions Exceptions: - Gilbert's -hyperlipidaemia type II
213
Kearns-Sayre syndrome
Mitochondrial inheritance -Onset < 20 years old -external opthalmoplegia -retinits pigmentosa
214
Positive predictive value
The chance that the patient has the condition if the diagnostic test is positive TP / (TP + FP)
215
Negative predictive value
The chance that the patient does not have the condition if the test is negative TN / (TN + FN)
216
Sensitivity
Proportion of patients with the condition who have a positive test result TP / (TP + FN)
217
Specificity
Proportion of patients without the condition who have a negative test result TN / (TN + FP)
218
Likelihood ratio for a positive test result
How much the odds of the disease increase when a test is positive sensitivity / (1 - specificity)
219
Likelihood ratio for a negative test result
How much the odds of the disease decrease when a test is negative (1 - sensitivity) / specificity
220
Tay-Sachs
Lysosomal storage disease Hexosaminidase A -developmental delay -cherry red spots on macula -without hepatosplenomegaly
221
Gaucher's disease
Lysosomal storage disease Defect in Beta-glucocerebrosidase -hepatosplenomegaly -aseptic necrosis of the femur
222
Niemann-Pick disease
Lysosomal storage disease defect in Sphingomyelinase -hepatosplenomegaly -cherry red spot on macula
223
Fabry disease
Lysosomal storage disease alpha-galactosidase A -angiokeratomas -peripheral neuropathy of extremeties -renal failure
224
Krabbe's disease
Lysosomal storage disease galactocerebrosidase -peripheral neuropathy -optic atrophy -globoid cells
225
Metachromatic leukodystrophy
Lysosomal storage disease Arylsulfatase A -demyelination of CNS + PNS
226
Hurler syndrome
Mucopolysaccharidosis type 1 alpha-1-idurnidase -gargoylism -hepatosplenomegaly -corneal clouding
227
Hunter syndrome
Mucopolysaccharidosis type 1 iduronate sulfatase -course facial features -learning difficulty -short stature -no corneal clouding
228
Von Gierke's disease
Glycogen storage disease type I Glucose-6-phosphatase Hypoglycaemia Lactic acidosis Hepatomegaly
229
Pompe's disease
Glycogen storage disease type II Lysosomal alpha-1,4-glucosidase Cardiomegaly
230
Cori disease
Glycogen storage disease type III Alpha-1,6-glucosidase Muscle hypotonia
231
McArdle's disease
Glycogen storage disease type III Glycogen phosphorylase Myalgia Myoglobinuria with exercise
232
Azathioprine side effects
- bone marrow depression - nausea/vomiting - pancreatitis - increased risk non-melanoma skin cnacer