Things I keep forgetting Flashcards
Acanthrosis nigricans assx
Gastric Ca
Acquired icthyosis assx
Lymphoma
Acquired hypertrichosis lanuginosa assx
GI + lung Ca
Dermatomyositis assx
ovarian + lung ca
erythema gyratum repens assx
lung ca
erythroderma assx
lymphoma
migratory thrombophlebitis assx
pancreatic ca
necrolytic migratory erythema assx
glucagonoma
pyoderma gangrenosum assx
myeloproliferative disorders
IBD
Rheumatoid arthritis
PBC
Chronic active hepatitis
sweet’s syndrome assx
haem malignancy
tylosis assx
oesophageal ca
Lymphoma skin manifestations
acquired ichthyosis, erythroderma
Lung ca skin manifestations
acquired hypertrichosis lanuginosa
dermatomyositis
erythema gyratum repens
Vibagatrin key SE
visual field defects - needs monitoring
Minimal change GN biopsy findings
normal glomeruli on light microscopy
electron microscopy shows fusion of podocytes and effacement of foot processes
Prognosis in minimal change GN
1/3 have just one episode
1/3 have infrequent relapses
1/3 have frequent relapses which stop before adulthood
Which pO2s do RBCs sickle at for HbAS?
2.5-4 kPa
Which pO2s do RBCs sickle at for HbSS?
5-6 kPa
Positively skewed and negatively skewed distributions: mean, median, mode
Normal (Gaussian) distributions: mean = median = mode
Positively skewed distribution: mean > median > mode
Negatively skewed distribution mean < median < mode
think positive going forward with ‘>’, whilst negative going backwards ‘<’
Causes of warm AIHA
idiopathic
autoimmune (SLE)
neoplasia (lymphoma, CLL)
drugs (methyldopa)
causes of cold AIHA
neoplasia (lymphoma)
infections (mycoplasma, EBV)
Likelihood ratio for a +ve test
sensitivity/(1-specificity)
Likelihood ratio for a -ve test
(1-sensitivity)/specificity
Heberden’s nodes
Osteoarthritis - painless DIPJ swelling
Osteoarthritis common joints and symptoms
CMCs, DIPJs, usually bilateral
Heberden’s, Bouchard’s nodes
Squaring of thumbs - CMC deformity –> fixed thumb adduction
Provoked by movement, relieved by rest
Stiffness worsened with ina ctivity
Bouchard’s nodes
Osteoarthritis - PIPJ swelling
Coarctation of aorta murmur
Late systolic
From which primaries are lung mets more commonly calcified?
Chondrosaracoma
Osteosarcoma
What primaries cause cannonball lung mets?
Renal cell ca
Choriosarcoma
Prostate Ca
What primaries cause haemorrhagic pulmonary mets?
Choriosarcoma
Angiosarcoma
What primaries cause miliary pattern of lung mets?
Renal cell ca
Malignant melanoma
What primary causes cavitating lung mets?
Squamous cell ca
What is the regime of choice when starting insulin in T1DM?
Twice daily insulin detemir
When do you start metformin in T1DM?
If BMI>25 - consider it
Causes of membranous GN
Idiopathic (anti phospholipase A2 Abs)
Infections: HBV, malaria, syphilis
Malignancy (5-20%): prostate, lung, lymphoma, leukaemia
Drugs: gold, penicillamine, NSAIDs
Autoimmune: SLE (class V), thyroiditis, rheumatoid
Prognosis in membranous GN
one-third: spontaneous remission
one-third: remain proteinuric
one-third: develop ESRF
Membranous GN Rx
ACE inhibitors/ARBs
Severe/progressive - immunosuppression:
Steroids + cyclophosphamide
Rituximab if moderate risk of progression
Anticoagulate for high-risk
Good prognosis factors in membranous GN
Female
Young age at presentation
Asymptomatic proteinuria of modest degree at presentation
Discoid lupus Rx
- topical steroids
- oral antimalarials eg hydroxychloroquine
Drug-induced lupus Abs
ANA 100%
Anti-histone 80-90%
anti-Ro
anti-Smith
-ve for dsDNA
Occupational asthma chemicals assx:
Isocyanates (most common - spray painting, foam moulding using adhesives)
Platinum salts
Soldering flux resin
Glutaraldehyde
Flour
Epoxy resins
Proteolytic enzymes
HHS criteria:
hypovolaemia
hyperglycaemia >30
hyperosmolality >320
no ketonaemia/acidosis
IL-1 source
macrophages
IL-1 function
acute inflammation
Induces fever
Il-2 source
Th1 cells
IL-2 functions
stimulates growth + differentiation of T cell response
IL-3 source
activated T helper cells
IL-3 functions
Stimulates differentiation + proliferation of myeloid progenitor cells
IL-4 source
Th2 cells
IL-4 functions
Stimulates proliferation + differentiation of B cells
IL-5 source
Th2 cells
IL-5 function
eosinophil production stimulation
IL-6 source
macrophages
Th2 cells
Il-6 functions
Stimulates B cell differentiation
Fever
IL-8 source
Macrophages
IL-8 function
neutrophil chemotaxis
IL-10 source
Th2 cells
IL-10 function
Inhibits Th1 cytokine production
(Known as human cytokine synthesis inhibitory factor - anti-inflammatory)
IL-12 source
dendritic cells
macrophages
B cells
IL-12 function
Activates NK cells, stimulates differentiation of naive T cells into Th1 cells
TNF alpha source
macrophages
TNF alpha functions
Fever
Neutrophil chemotaxis
IFN gamma source
Th1 cells
IFN gamma function
activates macrophages
Which cytokines do macrophages produce?
(Alpha 1268)
IL-1, 6, 8, 12
TNF alpha
Which cytokines do Th1 cells produce?
Th 1- 2,3 gamma
IL-2, 3
IFN gamma
Which cytokines do Th2 cells produce?
IL-4, 5, 6, 10, 13
CURB 65
Confusion (AMTS 8 or less)
Urea>7
RR>30
BP<90/60
Age >65
Enhanced liver fibrosis test composition
Hyaluronic acid + procollagen III + tissue inhibitor of metalloproteinase 1
Conditions causing increased KCO with normal or reduced TLCO
Pneumonectomy/lobectomy
Scoliosis/kyphosis
Neuromuscular weakness
Ankylosis of costovertebral joints (eg Ank Spond)
Causes of SAAG>11g/L
Portal HTN
Liver disorders: cirrhosis, ALD, acute liver failure, liver mets
Cardiac: right heart failure, constrictive pericarditis
Budd-chiari
PVT
Veno-occlusive disease
Myxoedema
Causes of SAAG<11g/L
hypoalbuminaemia: nephrotic syndrome, severe malnutrition
Malignancy: peritoneal carcinomatosis
Infections: tuberculous peritonitis
Others: pancreatitis, bowel obstruction, biliary ascites, postoperative lymphatic leak, serositis
What factors increase iron absorption
Vitamin C
Gastric acid
What reduces iron absorption
PPIs
Tetracyclines
Gastric achlorhydria
Tannin (in tea)
Pemphigus vulgaris antibodies
vs desmoglein 3 (a cadherin-type epithelial cell adhesion molecule)
Pemphigus vulgaris Sx
Flaccid blisters - easily ruptured vesicles + bullae
Mucosal ulceration common (oral 50-70%)
Nikolsky’s sign +ve (spread of bullae following horizontal, tangential pressure to skin)
Bullous pemphigoid Abs
Vs hemidesmosomal proteins BP180, BP230 in basement membrane
Bullous pemphigoid sx
Tense blisters - heal without scarring, usually around flexures
No mucosal involvement
Bullous pemphigoid biopsy
Immunfluorescence: IgG and C3 at dermoepidermal junction
Pemphigus vulgaris biopsy
acantholysis
Function of Th1 cells
Involved in cell-mediated response and delayed type 4 hypersensitivity
Function of Th2 dcells
mediating humoral (Ab) immunity
Azoles MOA
inhibits 14 alpha demethylase –> reduces ergosterol production from lanosterol –> reduces plasma membrane structural integrity/stability
Azoles SE
CYP450 Inhibitor
Hepatotoxic
Terbinafine MOA
Inhibits squalene epoxidase –> ultimately reduces ergosterol production –> reduces plasma membrane structural integrity/stability
Terbinafine SE
Pancytopenia
Agranulocytosis
Hepatotoxic
Echinocandins (Gaspofungin/any -fungins) MOA:
Beta-glucan synthase inhibition –> prevents beta glucan transport to cell wall to be used for its formation
Echinocandin SE
flushing
Amphotericin B MOA
binds to ergosterol forming transmembrane channel –> tears in walls (amphoTEARicin) –> leads to monovalent ion (K, Na, H, Cl) leakage + cell death
Amphotericin B SE
nephrotoxic, flu-like sx, hypoK, HypoMg, hepatotoxic, phlebitis
Nystatin MOA:
binds to ergosterol forming transmembranechannel –> makes little holes –> monovalent ion leakage + cell death
Griseofulvin MOA
interacts with microtubules, disrupts mitotic spindle
Griseofulvin SE
CYP450 inducer
teratogenic
Flucytosine MOA
converted by cytosine deaminase to 5-fluorouracil, inhibits thymidylate synthase –> attacks DNA –> disrupts fungal protein synthesis
FLucytosine SE
vomiting
Aciclovir MOA
guanosine analogue, inhibits viral DNA polymerase
Aciclovir SE
crystalline nephropathy - crystalluria
Ganciclovir MOA
guanosine analogue, inhibitis DNA polymerase
Ganciclovir SE:
myelosuppression/agranulocytosis
Foscarnet MOA
pyrophosphate analogue, inhibits DNA polymerase
Foscarnet SE
nephrotoxicity, hypoCa, hypoMg, seizures
Ribavirin MOA
guanosine analogue, inhibits IMP dehydrogenase, interferes with mRNA capping
Ribavirin SE
haemolytic anaemia
Amantadine MOA
inhibits M2 protein, uncoating of virus, releases dopamine from nerve endings
Amantadine SE
confusion, ataxia, slurred speech
Oseltamivir MOA
neuraminidase inhibitor
Cidofovir MOA
acyclic nucleoside phosphonate, independent of phosphorylation by viral enzymes
Cidofovir SE
nephrotoxicity
What is the aim of post-marketing observational studies for new drugs, following clinical trials?
To study profile of adverse effects (esp in pts not studied during clinical trials, such as those with liver, renal disease, pregnant, children)
Phases of clinical trials
Phase 0: exploratory, assess drug behaviour in human body, assesses pharmacokinetics, pharmacodynamics
Phase I: side-effects, healthy volunteers
Phase IIa: optimal dosing.
Phase IIb: efficacy
Phase III: effectiveness, 100-1000s of people, RCTs
Phase IV: postmarketing surveillance, long-term SE, effectiveness
A 79-year-old woman was admitted for elective hip-replacement surgery.
On examination, she was pale. There was 2-cm splenomegaly and there were small discrete axillary lymph nodes.
Investigations:
haemoglobin 107 g/L (115–165)
white cell count 34.5 × 109/L (4.0–11.0)
platelet count 183 × 109/L (150–400)
What is the most likely diagnosis?
CLL
Livedo reticularis causes
HIP CASE
Homocystinuria
Idiopathic (most common)
PAN
Cryoglobulinaemia
Antiphospholipid syndrome
SLE
EDS
A 37-year-old woman presented with a history of intermittent lightheadedness.
Examination was normal.
Investigations:
ECG normal
24-hour ambulatory ECG tracing
atrial and ventricular premature beats; nocturnal bradycardia and Mobitz type I atrioventricular block, and supraventricular tachycardia
Which abnormality on the 24-hour ambulatory ECG is clinically most important?
SVT
Wilson’s disease - where does the copper often deposit in the brain?
basal ganglia, esp putamen, globus pallidus
Wilson’s syndrome serum and urinary findings
Reduced serum caeruloplasmin
Reduced TOTAL serum copper
But increased FREE serum copper
Increased 24hr urinary copper excretion
Wilson’s genetics
Aut Rec
Chr 13
ATP7B gene defect
Argyll Robertson pupils
ARP
Accommodation Reflex Present but
Pupillary Reflex Absent
Often bilateral, small, irregular pupils
Causes: Neurosyphilis, DM
Holmes-Adie Pupils
Unilateral, dilated pupil.
Once constricted, remains so for abnormally long time, slow reaction to accommodation
Holmes Adie syndrom= HA pupil + absent ankle/knee reflexes
Prevention of calcum stones
Lifestyle: high fluid intake, add lemon juice to drinking water, avoid carbonated drinks, limit salt intake
Drugs:
Potassium citrate - reduces urinary supersaturation of ca salts by forming soluble complexes with ca ions and inhibits crystal growth and aggregation. Useful for recurrent stones
Thiazides if very high Ca in urine
Genotypes in A1AT
PiMM - normal
PiMZ - heterozygous carrier
PiSS - 50% have normal A1AT levels
PiZZ - 10% have normal A1AT levels. Severe phenotype
Hypercholesterolaemia causes
Nephrotic syndrome
Cholestasis
Hypothyroidism
Hypertriglyceridaemia causes
DM
Obesity
CKD
Thiazides
Non-selective beta blockers
Unopposed oestrogen
Liver disease
ETOH
Thyroid cancers from commonest to least common
Papillary
Follicular
Medullary
Anaplastic
Lymphoma
A 77-year-old man presented with increasing pains around his lower back and lower limb girdle. He had recently presented with symptoms of hesitancy and post-micturition dribbling.
Investigations:
ESR 28 mm/1st h (<20)
serum adjusted calcium 2.34 mmol/L (2.20–2.60)
serum phosphate 0.80 mmol/L (0.80–1.45)
serum alkaline phosphatase 2985 U/L (45–105)
serum prostate-specific antigen 6 μg/L (<4.0)
What is the most likely cause of this man’s pain?
Paget’s
A 50-year-old man presented with a 2-day history of multiple painful joints. Two weeks previously, he had been started on treatment with allopurinol for tophaceous gout. His only other medication was paracetamol. He had a history of excess alcohol intake.
On examination, his temperature was 37.5°C and there was acute inflammation of the finger joints, wrists, knees and ankles.
Investigations:
serum gamma glutamyl transferase 90 U/L (<50)
serum CRP 180 mg/L (<10)
serum urate 0.65 mmol/L (0.23–0.46)
What is the most likely cause of his symptoms?
Allopurinol therapy triggering acute flare of gout
Due to falling serum urate levels –> uric acid crystals detaching from articular cartilage
Burkitt’s lymphoma genetics
Overexpression of c-Myc
t(8:14)
t(8:14) brings c-Myc gene under control of immunoglobulin heavy chain promoter and renders it constitutively active
Mantle cell lymphoma genetics
t(11:14)
Deregulation of cyclin D1 (BCL-1) gene
Follicular lymphoma genetics
t(14:18)
Increased BCL-2 transcription
Optimal time for vaccination when splenectomy is planned?
1 month pre-surgery
Infection prophylaxis in splenectomy
HiB + Men A&C + annual flu + pneumococcal every 5 yrs + lifelong penicillin V
Types of Hodgkin’s disease (commonest to rarest)
Nodular sclerosing
Mixed cellularity
Lymphocyte predominant
Lymphocyte depleted
Poor prognosis factors for Hodgkin’s
Age>45
Male
Stage IV
Hb<105
Lymphocyte<600
WCC>15000
Albumin <40
A 17-year-old girl presented with a single, painless, enlarged cervical lymph node. She was asymptomatic.
Investigations:
chest X-ray enlarged mediastinal lymph nodes
What is the most likely diagnosis?
Hodgkin’s
In severe haemoptysis requiring treatment, where does bleeding originate from?
Bronchial arteries (90%)
Pulmonary arteries (5%)
Causes of acute interstitial nephritis
Drugs (25%): penicillin, rifampicin, NSAIDs, allopurinol, furosemide
Systemic: SLE, sarcoidosis, Sjogren’s
Infection: Hantavirus, staph
Features of acute interstitial nephritis
fever
rash
arthralgia
eosinophilia
mild renal impairment
HTN
Sterile pyuria
white cell casts
Papillary necrosis causes
POSTCARDS
Pyelonephritis
Obstructive uropathy
Sickle cell
TB
cirrhosis
analgesia/alcohol
renal vein thrombosis
DM
systemic vasculitis
Papillary necrosis sx
fever, loin pain, haematuria
‘cup and spill’ - papillary necrosis with renal scarring on biopsy
Lichen planus
violaceous, flat-topped papules, which are often seen on the flexor surfaces of the wrists, lower back and ankles as well as elsewhere on the skin
can Koebnerise (lesions arise at area of skin that has been traumatised), resulting in linear pattern from scratching
Lacy white pattern on buccal mucosa (Wickham’s striae)
Can cause non-scarring alopecia if on scalps
GI complication of systemic sclerosis
Malabsorption due to SIBO in sclerosed small intestine
40% of patients
Causes of foot drop
Common peroneal nerve lesion
L5 radiculopathy
Sciatic nerve lesion
Superficial/deep peroneal nerve lesion
CN lesions
Common peroneal nerve lesion sx
Foot drop
Weakness: foot dorsiflexion, eversion, extensor hallucis longus
Sensory loss: over dorsum of foot + lower lateral part of leg
Wasting: anterior tibial and peroneal muscles
A 47-year-old woman was being treated with lithium for bipolar affective disorder.
On examination, her BP was 168/104 mmHg.
What is the most appropriate antihypertensive drug for her?
Amlodipine
Not ACE inhibitor because of renal risk in light of lithium
What antibody mediates hyperacute rejection?
IgG
Headache, increasing drowsiness, focal neuro sx + seizures in a woman shortly post partum
Dx?
Venous sinus thrombosis
Miller Fisher syndrome features
Internal and external ophthalmoplegia
Areflexia
Ataxia
Descending paralysis
GBS variant
Miller Fisher Abs
GQ1b
A 58-year-old man with congestive heart failure remained oedematous despite treatment with furosemide 120 mg daily.
Investigations:
serum sodium 134 mmol/L (137–144)
serum potassium 3.4 mmol/L (3.5–4.9)
serum urea 10.6 mmol/L (2.5–7.0)
serum creatinine 156 µmol/L (60–110)
What other finding is most likely?
Options:
high plasma aldosterone concentration
high serum cortisol concentration
low plasma angiotensin II concentration
low plasma atrial natriuretic peptide concentration
low plasma renin concentration
high plasma aldosterone concentration
Pathophysiological activation of RAAS due to reduced renal perfusion pressure in CCF
Acromegaly investigations
IGF-1 levels first - not diagostic
To diagnose, need OGTT (GH suppressed in normal, but no suppression in acromegaly)
Post-exposure prophylaxis of HIV
3 drug ART for 1 month
A 21-year-old woman, who was undergoing chemotherapy for non-Hodgkin lymphoma, presented 2 days after being in contact with her nephew, for 2 hours, on the day that he developed a chickenpox rash.
Investigations:
varicella serology negative
What is the most appropriate management?
Give varicella zoster immunoglobulin as she is immunocompromised
Diarrhoea within 1 week of travel
E Coli commonest (ETEC)
A 36-year-old HIV-positive man presented with a 1-week history of generalised pruritus. He had had unprotected anal sex 2 months previously while on holiday in Spain. He had previously been vaccinated against hepatitis B virus, with an adequate antibody response.
On examination, his temperature was 37.8°C and he was jaundiced. Examination was otherwise normal.
Investigations:
serum total bilirubin 99 µmol/L (1–22)
serum aspartate aminotransferase 754 U/L (1–31)
serum alkaline phosphatase 173 U/L (45–105)
CD4 count 550 × 106/L (430–1690)
anti-hepatitis A IgM antibody negative
What is the most likely diagnosis?
Options:
acute hepatitis C
acute hepatitis D
CMV infection
syphilis
toxoplasmosis
Acute Hep C
Parietal lobe lesion features
Receptive dysphasia, dyslexia, inattention, sensory inattention, apraxia, astereognosis (tactile agnosia), inferior homonymous quadrantanopia
Gerstmann syndrome (if dominant parietal angular gyrus lesion) –> alexia, acalculia, finger agnosia, agraphia, left-right limb disorientation
A 58-year-old man was seen with progressive breathlessness in the outpatient clinic. He had undergone coronary artery bypass grafting 3 years previously and this had been complicated by a resternotomy for tamponade. He recovered well but had started to feel breathless and fatigued over the past 12 months. He had a history of type 2 diabetes mellitus and hypertension. He was a current smoker.
A diagnosis of constrictive pericarditis was made.
What is the most common physical finding seen in this group of patients?
Options:
ascites
finger clubbing
hepatomegaly
pericardial knock
pleural effusion
Hepatomegaly - the earliest and most consistent feature of pericardial constriction of the options here.
Ascites (a later phenomenon than hepatomegaly) and pericardial knock (recognised in around 50% of cases) are also features of pericardial constriction, making this a true “best-of” question. Finger clubbing is not a feature of constriction, however, and pleural effusion is uncommon.
Features of constrictive pericarditis
SOB
Right heart failure features: elevated JVP, ascites, oedema, hepatomegaly
Prominent X and Y descent
Pericardial knock (loud S3)
Kussmaul’s sign
Common cause of myocardial infarction in relation to pregnancy
Coronary artery dissection
How to diagnose PBC
AMA M2 subtype diagnostic 98%
Other Ix:
Raised IgM
USS/MRCP - to exclude other causes of extrahepatic obstruction
C7 dermatomes
Middle Finger and palm of hand
C6 dermatomes
Thumb and index finger
T4 dermatomes
nipples
T4 at the teatpore
T10 dermatomes
Umbilicus
L4 dermatome
Knee caps
Down on aLL 4s
L5 dermatome
big toe, dorsum of foot
S1 dermatome
Lateral foot, small toe
S1 is the smallest one
Triceps reflex nerve roots
C7, 8
Biceps reflex nerve roots
C5, 6
Ankle jerk reflex nerve roots
S1, 2
Knee jerk reflex nerve roots
L3, 4
Which skin layer does lipodermatosclerosis affect?
Hypodermis
If extensive, papillary dermis
Waterlow score parameters
Body weight/BMI
Nutritional status
Continence
Skin type
Mobility
Age
Sex
Erythrodermic psoriasis Rx
topical white soft paraffin smeared all over skin
A 24-year-old woman presented with shortness of breath of sudden onset. She had been at a nightclub and had been drinking wine but denied taking any illicit substances. She had no relevant medical history. She was a non-smoker.
On examination, her temperature was 37.0°C, her pulse was 100 beats/min and her BP was 110/70 mmHg. Her respiratory rate was 32 breaths/min and her oxygen saturation was 98% (94–98) breathing air.
Investigations:
arterial blood gases, breathing air:
PO2 12.9 kPa (11.3–12.6)
PCO2 3.8 kPa (4.7–6.0)
pH 7.44 (7.35–7.45)
H+ 36 nmol/L (35–45)
bicarbonate 19 mmol/L (21–29)
base excess –2.0 mmol/L (±2.0)
chest X-ray normal
What is the most likely diagnosis?
Hyperventilation
Superior mesenteric artery supply
Small intestine from distal duodenum to 2/3 of transverse colon
H pylori strongest association with GI issues
Duodenal ulcers
Lesser degree - gastric ulcers and carcinoma
Pulsus alternans
severe LVF due to cardiomyopathy, CAD, systemic HTN, AS
Pulsus bisferiens
Mod-severe AR
Combined AS + AR
RF for completed suicide
male
Older age
Efforts to avoid discovery
Planning
Leaving written note
Final acts
Violent method
Social isolation
Isosorbide mononitrate MOA
nitric oxide donor –> stimulation of guanylate cyclase –> cGMP production –> vasodilation
Posterior STEMI ECG
dominant R wave in V1-3 with ST depression
Posterior cardiac supply
Posterior descending artery
From RCA in 85% of people (right dominant)
From LCx in 15% (left dominant)
A 42-year-old woman presented complaining of “worms” in the skin of her arms and legs for the past 9 months. She could feel the worms moving, and had tried to get them out of her skin using a needle. She reported that the worms were gradually spreading and she was afraid they would lead to her death.
On examination, she was anxious. There were multiple needle marks on the skin of her arms and legs. Examination was otherwise normal.
What is the most likely diagnosis?
Options:
delusional disorder
depressive psychosis
factitious disorder
generalised anxiety disorder
somatic symptom disorder
Delusional disorder - delusional parasitosis
A 67-year-old woman presented with palpitations and a goitre. Propranolol was started to improve her symptoms.
On examination, she had a coarse tremor and sweaty palms, but no thyroid eye signs.
Investigations:
serum thyroid-stimulating hormone <0.03 mU/L (0.4–5.0)
serum free T4 25.0 pmol/L (10.0–22.0)
technetium-99m scan of thyroid increased uptake in right upper lobe, with uptake suppressed in rest of thyroid gland
What is the most appropriate treatment for her thyroid condition?
Answers:
carbimazole
prednisolone
propylthiouracil
radioiodine
total thyroidectomy
Radioiodine - to treat toxic adenoma - an autonomous nodule causing hyperthyroidism
How to calculate osmolality
(2xNa) + (2xK) + glucose + urea
Ivabradine MOA
inhibits funny channels
Ivabradine criteria
LVEF<35% + sinus rhythm + rate >75bpm (contraix for lower resting rates as blocks cahnnel responsible for cardiac pacing)
Hydralazine MOA
elevates cGMP, smooth muscle relaxation in arterioles
CHF Rx
- ACE inhibitors + beta blockers
- Spiro/eplerenone + SGLT-2 inhibitors
- Ivabradine, sacubitril-valsartan, digoxin, hydralazine + Nitrates or CRT
Offer annual flu vaccine + one-off pneumococcal vaccine (every 5 yrs if splenic dysfunction or CKD)
Blood donation contraix
Cancers
Heart conditions
If you received blood products after 1980
HIV +ve
Organ transplant recipient
HBV, HCV +ve
Injected non-prescription drugs
Hemibalism lesion
Basal ganglia’s subthalamic nucleus
Internuclear ophthalmoplegia lesion
medial longitudinal fasciculus
Located in paramedian area of midbrain and pons
Where does haloperidol have central anti-emetic action?
D2 antagonism centrally at the area postrema - a medullary structure controlling vomiting
A 72-year-old man presented with loss of the lower half of the visual field of his right eye, with no associated pain. He had type 2 diabetes mellitus and was being treated for hypertension.
Examination showed normal visual acuity in both eyes, with an inferior altitudinal field defect in his right eye. Fundoscopy of his left eye was normal, and the upper part of the right optic disc showed mild disc swelling. No fundal haemorrhages were seen. His BP was 160/90 mmHg.
What is the most likely diagnosis?
Options:
optic neuritis
panuveitis
posterior communicating artery aneurysm
retinal artery occlusion
retinal vein thrombosis
Retinal artery occlusion
Visual field deffect makes this more likely
Branch retinal vein thrombosis assx with fundal haemorrhages (not seen here)
Optic neuritis, panuveitis leads to visual acuity impairment + pain
Posterior communicating artery aneurysm typically presents with 3rd nerve palsy with dilation
Which muscle is involved with torticollis
contracture of the ipsilateral sternocleidomastoid muscle which leads to the chin being pushed to the opposite side.
An 85-year-old woman presented with breathlessness that had developed over the previous 2 years. She complained of a cough that frequently woke her from sleep. She had been treated with radiotherapy for a cervical lymphoma 20 years previously.
On examination, she was thin, but had no abnormal physical signs. Her oxygen saturation was 95% (94–98) breathing air.
Investigations:
high-resolution CT scan of chest basal fibrosis associated with dilated bronchi, but no honeycombing or ground-glass change
What is the most likely diagnosis?
Answers:
bronchiectasis
chronic aspiration
idiopathic pulmonary fibrosis
radiation pneumonitis
sarcoidosis
Chronic aspiration
The symptoms described are consistent with chronic aspiration occurring in the elderly. The CT findings are radiological bronchiectasis, a sequela of recurrent episodes of aspiration pneumonia. This does not, however, equate to a clinical diagnosis of bronchiectasis. The absence of honeycombing and ground-glass opacities counts against the diagnosis of radiation pneumonitis and idiopathic pulmonary fibrosis.
Erythema nodosum causes
Infections: Strep, TB, Brucellosis, Yersinia
Systemic: sarcoidosis, IBD, Behcet’s
Malignancy/lymphoma
Drugs: penicillins, sulphonamides, COCPs, pregnancy
A 23-year-old man was admitted with a 3-day history of lower cramping abdominal pain and fever. He had mild diarrhoea, but no blood in his stool. He had not travelled recently.
On examination, he was tender in his right iliac fossa. There were raised, tender, red nodules on his shins.
Investigations:
CT scan of abdomen cluster of lymph nodes at appendix suggestive of mesenteric adenitis
What is the most likely cause of his symptoms?
Answers:
Campylobacter jejuni infection
Salmonella enteritidis infection
tuberculosis
ulcerative colitis
Yersinia enterocolitica infection
Yersinia enterocolitica infection
The history of a non-specific diarrhoeal disease with right iliac fossa pain would most commonly be due to campylobacter. However, the finding of a “cluster of lymph nodes at appendix suggestive of mesenteric adenitis” points more to yersinia infection, which can mimic Crohn’s disease and appendicitis (pseudoappendicitis).
PNH features
Triad: Intravasc haemolytic anaemia, pancytopenia, venous thrombosis (Budd-Chiari)
Haemoglobinuria in morning
Aplastic anaemia in some
A 78-year-old man presented with a 3-month history of haematuria, increasing tiredness and breathlessness on exertion.
On examination, he looked pale.
Investigations:
haemoglobin 78 g/L (130–180)
MCV 108 fL (80–96)
white cell count 2.6 × 109/L (4.0–11.0)
neutrophil count 0.9 × 109/L (1.5–7.0)
platelet count 78 × 109/L (150–400)
blood film nucleated red blood cells, myelocytes and metamyelocytes
What is the most likely cause of his abnormal blood film?
Answers:
aplastic anaemia
bone marrow metastases
hypothyroidism
myelodysplasia
vitamin B12 deficiency
Bone marrow metastases
Pancytopenia with leukoerythroblastic film suggestive of bone marrow infiltration
Aplastic anaemia and hypothyroidism generally are associated with a normal blood film, MDS with abnormal blood cell appearances (e.g. poikilocytosis) and vitamin B12 deficiency with the characteristic hypersegmented neutrophils. A further clue in the stem is the haematuria, which indicates an underlying pathology.
A 26-year-old woman with a previous history of deep venous thrombosis was treated with low-molecular-weight heparin for a further episode proven by a Doppler ultrasound scan. She also reported that she had had two first-trimester spontaneous miscarriages. She was currently using contraception.
Investigations:
prothrombin time 13.0 s (11.5–15.5)
activated partial thromboplastin time 50 s (30–40)
anticardiolipin IgG antibodies 62 U/mL (<10)
pregnancy test negative
What is the most appropriate treatment?
Answers:
apixaban
aspirin
dabigatran
low-molecular-weight heparin
warfarin
LMWH
APLS here - should go for warfarin but it can’t be used so LMWH should be used at this time
Anti phospholipid syndrome antibodies
anti-beta 2 glycoprotein I
Lupus anticoagulant
Anticardiolipin
APLS Rx
primary thromboprophylaxis with low dose aspirin
Secondary thromboprophylaxis with lifelong warfarin (INR 2-3)
Recurrent thromboembolic: warfarin (INR 3-4) + low dose aspirin
Digoxin half-life
36 hrs
Term used to describe an abnormal number of chromosomes but not abnormal numbers of complete chromosome sets
aneuploid
Cavernous sinus CN lesions
III, IV, V1, VI
Hydatid disease Rx
Albendazole
Cysticercosis Rx
niclosamide
How to distinguish between irritant vs allergic contact dermatitis
No vesicles, only erythema: irritant
Vesicles, weeping eczema: allergic
Causes of hypokalaemia with alkalosis
Vomiting
Thiazides, loop diuretics
Cushing’s
Conn’s
Liddle’s
ALL Good prognosis
FAB L1 type
Common ALL
Pre-B phenotype
Low initial WBC
deletion (9p)
Hyperdiploidy
ALL poor prognosis
FAB L3 type
T or B cell markers present
t(9;22) (Philadelphia translocation)
age <2 yrs or >10yrs
Male sex
CNS involvement
high initial WBC (>100)
non-Caucasian
Huntington’s genetics
Aut Dom CAG trinucleotide repeat
Pseudohypoparathyroidism Dx
Measuring urinary cAMP and PO4 after PTH infusion
Increased cAMP and PO4 in hypoPTH, but no change in type 1 pseudohypoPTH
In type II psuedohypoPTH cAMP rises, PO4 does not rise
Features of psuedohypoPTH
low IQ, short stature, shortened 4th, 5th metacarpals
low Ca, high PO4, high PTH
Tetanus 1st line abx
IV metronidazole
Botulism vs Tetanus
Botulism causes flaccid paralysis vs spastic paralysis in tetanus
Botulism toxin blocks ACh release, Tetanus toxin prevents release of inhibitory GABA at NMJ
When to refer to nephrology for proteinuria
ACR >70
ACR >30 + persistent haematuria (after UTI excluded)
ACR 3-29 + persistent haematuria + RFs (eg declining eGFR, CVS disease)
Cyclophosphamide
alkylating agent, causes DNA crosslinking
Inhibitory effect on B cells, CD4+ T cells, CD8 + T cells
SE: haemorrhagic cystitis, myelosuppression, TCC
Bleomycin
Degrades preformed DNA
SE: lung fibrosis
Anthracyclin
Stabilises DNA topoisomerase II complex, inhibits DNA, RNA synthesis
SE: CDM
Methotrexate
inhibits dihydrofolate reductase and thymidylate synthesis
SE: myelosuppression, mucositis, liver fibrosis, lung fibrosis
Fluorouracil
Pyrimidine analogue, blocks thymidylate synthase (during S phase), induces cell cycle arrest + apoptosis
SE: myelosuppression, mucositis, dermatitis
6-mercaptopurine
Purine analogue activated by HGPRTase, reduces purine synthesis
SE: myelosuppression
Cytarabine
Pyrimidine antagonist. Interferes with DNA synthesis, esp during S-phase of cell cycle, inhibits DNA polymerase
SE: myelosuppression, ataxia
Vincristine, vinblastine
Inhibits microtubule formation
Vincristine SE: reversible peripheral neuropathy, paralytic ileus
Vinblastine SE: myelosuppression
Docetaxel
Prevents microtubule depolymerisation & Disassembly, decreases free tubulin
SE: neutropenia
Irinotecan
Inhibits topoisomerase I, preventing supercoiled DNA relaxation
SE: myelosuppression
Cisplatin
Causes DNA crosslinking
SE: ototoxicity, peripheral neuropathy, hypoMg
Hydroxyurea/hydroxycarbamide
Inhibits ribonucleotide reductase, decreases DNA synthesis
SE: myelosuppression
Which cardiac enzyme is the 1st to rise
Myoglobin
Which cardiac enzyme is the last to rise?
LDH
Which cardiac enzyme is best to look for reinfarction?
CK-MB (returns to noral after 2-3 days whilst trop-T stays elevated for 7-10 days)
Tuberous Sclerosis features
HAMARTOMAS
Hamartoma (retinal)
Adenoma sebaceum (angiofibromas)
Mental retardation
Ash leaf spots
Rhabdomyoma
Tubers
Optic haemartomas
Mitral regurgitation
Astrocytomas, Angiomyolipomata (renal)
Seizures, Shagreen patches
+cafe au lait spots, polycystic kidneys, subungual fibromata,
Can see cafe au lait spots
NF1 features
Cafe au lait spots
peripheral neurofibromas
Lisch nodules (iris hamartomas)
Scoliosis
Phaeochromocytoma
NF2 features
Schwannomas - bilateral vestibular, mutliple intracranial
Meningiomas
Ependymomas
Von Hippel-Lindau syndrome genetics
Aut dom VHL mutation in Chr 3
(3 letters in VHL)
Von Hippel Lindau Syndrome features
VHLS
Vitreous Haemorrhages
Haemangiomas (cerebellar + retinal)
Lots of cysts
Sadly, cancers (renal clear cell + endolymphatic sac)
Phaeochromocytomas
Foster-Kennedy syndrome
Frontal lobe tumour causing ipsilateral optic atrophy + contralateral papilloedema
Sulphsalazine SE:
rashes
oligospermia
Heinz body anaemia
megaloblastic anaemia
lung fibrosis
GI upset
Headache
Agranulocytosis
Pancreatitis
Interstitial nephritis
Subacute (De Quervain’s) thyroiditis thyroid scintigraphy findings
Globally reduced uptake of iodine-131
Friedrich’s ataxia genetics
Aut rec
GAA repeat in X25 gene
Chr 9
Friedrich’s ataxia Sx
Similar to SCD of cord:
Lateral corticospinal, dorsal column, spinocerebellar lesions:
B/l spastic paresis, proprioception, vibration sensation loss, ataxia, LMN sx, cerebellar ataxia, optic atrophy
HOCM
DM
High arched palate
Drugs exacerbating Myasthenia gravis
MP Questions LGBT
Macrolide
Procainamide, Penicillamine, Phenytoin
Quinolone, Quinidine
Lithium
Gentamicin
Beta blockers
Tetracyclines
How long does an AV fistula take to form
6-8 wks
Amiodarone induced thyrotoxicosis types
Type 1: excess iodine-induced synthesis. Goitre present. Treat with carbimazole or potassium perchlorate
Type 2: Destructive thyroiditis. Goitre absent. Treat with steroids
Myotonic dystrophy genetics
Aut Dom
Type 1 (DM1): CTG rpt at end of DMPK gene on Chr 19
Type 2 (DM2): rpt expansion of ZNF9 gene on Chr 3
Blood film on hyposplenism
Target cells
Howell-Jolly bodies
Pappenheimer bodies
Siderotic granules
Acanthocytes
IDA blood film
Target cells
Pencil pokilocytes
Myelofibrosis blood film
Tear drop poikilocytes
What is responsible for the plateau phase of a cardiac AP?
Slow Ca influx through L-type Ca channels
What is responsible for the rapid depolaration phase of a cardiac AP?
Rapid Na influx
What is responsible for repolarisation in a cardiac AP?
K efflux
What is responsible for restoration of ionic concentrations in a cardiac AP?
K influx with slow Na efflux, via the Na/K ATP-ase
Where are the majority of tumours in Zollinger-Ellison found?
1st part of the duodenum
2nd commonest - pancreas
Trastuzumab
Herceptin - HER2/neu receptor mAb
for metastatic breast Ca
Trastuzumab SE:
flu-like sx, diarrhoea
Cardiotoxicity, esp with anthracyclines - needs Echo before treatment
Which immunoglobulin type is raised in Alcoholic liver disease?
IgA
Which immunoglobulin type is raised in autoimmune hepatitis?
IgG
HLA association for autoimmune hepatitis
HLA B8
HLA DR3
Type I autoimmune hepatitis antibodies
ANA
anti-SMA
Type II autoimmune hepatitis antibodies
Anti-LKM1
Type III autoimmune hepatitis antibodies
Anti soluble liver kidney antigen ab
Complications of plasma exchange
HypoCa (due to citrate used as anticoagulant for extracorporeal system)
Metabolic alkalosis
Removal of systemic meds
Coagulation factor depletion
Immunoglobulin depletion
Indications for plasma exchange
GBS
Myasthenia
Goodpasture’s
ANCA-related vasculitis (if progressive renal failure or pulmonary haemorrhage)
TTP/HUS
cryoglobulinaemia
Hyperviscosity syndrome
Extra-articular features in IBD related to disease activity
Pauciarticular, asymmetric arthritis
Erythema nodosum
Episcleritis (more in Crohn’s)
Osteoporosis
Extra-articular features in IBD un-related to disease activity
Polyarticular symmetric arthritis
Uveitis (more in UC)
Pyoderma gangrenosum
Clubbing
PSC (more in UC)
Familial Mediterranean Fever inheritance
Aut rec
Familial Mediterranean Fever features
Recurrent Pyrexia + Polyserositis (pleuritis, peritonitis, pericarditis, arthritis), erysipeloid rash on lower limbs
Familial Mediterranean Fever Rx
Colchicine
Hungry bone syndrome
Uncommon complication post thyroidectomy if hyperPTH has been long-standing.
Results in hypoCa
High pre-op levels of PTH provide constant stimulus for high osteoclast activity. Once parathyroidectomy done, bones rapidly begin re-mineralisation to counter the chronic changes that osteoclasts have done
Coarctation of Aorta assx
Turner’s
Bicuspid aortic valve
Berry aneurysms
NF
Lithium toxicity precipitants
Diuretics (thiazides esp_)
ACE inhibitors/ARBs
NSAIDs
Metronidazole
Level at which lithium toxicity occurs and therapeutic level
> 1.5 - toxicity
0.4-1 - therapeutic range
Lithium toxicity features
CHAPS Coma
Coarse tremor
Hyperreflexia
Acute confusion
Polyuria
Seizure
Coma
Tunnel vision causes:
CHO RPG into the tunnel
Choroidoretinitis
Hysteria
Optic atrophy 2ndary to Tabes dorsalis
Retinitis pigmentosa
Papilloedema
Glaucoma
Otitis externa Rx
topical steroids + aminoglycoside
Anthrax Rx
ciprofloxacin
CYP450 inducers
CRAP GPS
carbamazepime
rifampicin
Alcohol (chronic)
Phenytoin
Griseofulvin
Phenobarbiton
Sulphonylureas/smoking/St John’s Wort
CYP450 inhibitors
SICKFACES.COM
Sodium valproate
Isoniazid
Cimetidine
Ketoconazole/fluconazole
Fluoxetine/sertraline
Alcohol (acute)/allopurinol/amiodarone
Ciprofloxacin/chloramphenicol
Erythromycin/clarithromycin
Sulphonamides
Cardiac/Liver failure
Omeprazole
Metronidazole
Which is more likely to develop T2DM - IFG or IGT
IGT
(IFG due to hepatic insulin resistance while IGT due to muscle insulin resistance)
Impaired fasting glucose diagnosis
Fasting glucose 6.1-7.0
Impaired glucose tolerance diagnosis
Oral glucose tolerance test (post-2hrs): 7.8-11.1
Sulfonylurea SE:
Hypo
Weight gain
SIADH
Cholesterol liver dysfunction
Peripheral neuropathy
Teratogenic
Meglitinides - when to give
basically work like sulfonylureas
For erratic lifestyles
Sulfonylurea MOA
Binds to ATP-sensitive K channels on beta cells, closing them
Increases glucose-INDEPENDENT insulin release
Thiazolidinediones SE
weight gain
fluid retention (worsened when given with insulin)
liver dysfunction
fractures
Bladder Ca
Gliptins SE
pancreatitis
GLP-1 mimetics SE
nausea, vomiting
Pancreatitis
Renal impairment
SGLT-2 inhibitors SE
urinary/genital infections
Fournier’s gangrene
Euglycaemic ketoacidosis
Lower-limb amputations
Weight loss
Pendred’s syndrome genetics
Aut Rec
SLC26A4 mutation in PDS gene
Chr 7
Pendred’s syndrome features
Defect in iodine organification
Progressive bilateral sensorineural deafness
Delay in academic progression
Exacerbated by head trauma
Mild hypothyroid/euthryoid with goitre
Pendred’s syndrome dx
perchlorate discharge test
Genetic testing
Audiometry
MRI (one and a half turns in cochlea instead of two and a half turns)
Pendred’s syndrome Rx
thyroid hormones
Cochlear implants
Pelvic inflammatory disease Rx
Oral ofloxacin + oral metronidazole
or
IM ceftriaxone + oral doxycycline + oral metronidazole
Chance of transmission after needlestick for HBV
20-30%
Chance of transmission after needlestick for HCV
0.5-2%
Chance of transmission after needlestick for HIV
0.3%
What stain should you use to diagnose Pneumocystis cariniii pneumonia?
Silver stain
Which foramen does the maxillary nerve go through?
Foramen rotundum
Which foramen does the mandibular nerve go through?
Foramen ovale
Which nerves go through through the jugular foramen?
CNs 9, 10, 11
Central causes of Horner’s
S’s - lesions directly in hypothalamus, brainstem, spinal cord, demyelination, neoplasms, syrinx
Stroke
Syringomyelia
multiple Sclerosis
Tumour
Encephalitis
How to distinguish between different causes of Horner’s
Central lesions have anhidrosis of face + arms + trunks
Pre-ganglionic have just anhidrosis of face
Post-ganglionic have no anhidrosis
Hydroxyamphetamine testing can also be done: pupils dilate in central/pre-ganglionic but not in post-ganglionic
Pre-ganglionic Horner’s causes
T’s
pancoasT’s
Tumour
Thyroidectomy
Trauma
Cervical Rib
Post-ganglionic Horner’s causes
C’s
Carotid artery dissection
Carotid aneurysm
Cavernous sinus thrombosis, Cluster headache
Pilocarpine action
muscarinic agonist
Timolol eye drops MOA
beta blocker –>
reduces aqueous production
Apraclonidine eye drops MOA
alpha 2 agonist
Reduces aqueous production + increases outflow
Latanoprost eye drop MOA
prostaglandin analogue
Increases uveoscleral outflow
Which cells produce pulmonary surfactant
Type 2 pneumocytes
What is the main functioning component of pulmonary surfactant?
Dipalmitoyl phosphatidylcholine (DPPC)
Severe AS features
narrow pp
slow rising pulse
soft/absent S2
S4
thrill
delayed ESM
longer ESM
LVH/failure (displaced apex beat)
Causes of Peripheral neuropathy with predominantly sensory loss
VALUE Diabetes
Vit B12 def
Amyloidosis
Leprosy
Uraemia
ETOH
Diabetes
Causes of Peripheral neuropathy with predominantly motor loss
GP’s CCD
GBS
Porphyria and lead poisoning (things down the haem biosynthesis pathway)
Charcot-Marie-Tooth
CIPD (chronic GBS)
Diphtheria
What is hazard ratio typically used for
analysing survival over time
Rheumatoid arthritis XR changes
Loss of joint space
Juxta-articular osteoporosis/osteopaenia
Soft-tissue swelling
Periarticular erosions
Subluxation
Vaughan Williams class 1a examples
quinidine
procainamide
disopyramide
Vaughan Williams class 1a MOA
blocks Na channels
Increases AP duration
Vaughan Williams class 1b examples
Lidocaine
Mexiletine
Tocainide
Vaughan Williams class 1b MOA
blocks Na channels
Reduces AP duration
Vaughan Williams class 1c examples
Flecainide
Encainide
Propafenodone
Vaughan Williams class 1c MOA
blocks Na channels
No effect on AP
Drug induced lupus causes
Most common: - PH
Procainamide
Hydralazine
Less common: - PIM
Isoniaizid
Minocycline
Phenytoin
Ataxic telangiectasia genetics
Aut Rec
DNA repair enzyme defect
Wiskott-Aldrich syndrome genetics
X recessive
WASP gene defect
Red flag features when assessing for IBS
Rectal bleed
weight loss (unexplained)
FHx of bowel/ovarian Ca
Onset>60yrs of age
Homocystinuria genetics and defect
Aut Rec
Cystathionine beta synthase def
Homocystinuria features
Hair: Fine, fair hair
Body/Bones: Marfanoid, Osteoporotic, Kyphotic
Neuropsych: LD, Seizures
Eyes: Downwards (inferonasal) lens dislocation, Severe myopia
CVS: Arterial + venous thromboembolisms
Skin: Malar flush, Livedo reticularis
Homocystinuria Ix
plasma, urine homocysteine conc high
Cyanide-nitroprusside test +ve
Homocystinuria Rx
vit B6 (pyridoxine) supplements
Phenylketonuria Genetics + Defect
Aut Rec
Chr 12
Phenylalanine hydroxylase def
Phenylketonuria features
General: Fair hair, Blue eyes
Urin: Musky
Neuropsych: LD, Seizures
Skin: Eczema
Phenylketonuria Ix
Guthrie’s test
Hyperphenylalaninaemia
Urinary phenylpyruvic acid
Alkaptonuria genetics + defect
Aut Rec
HGD def
Alkaptonuria Sx
Eyes: pigmented sclera, corneal deposits
Urine: dark urinary homogentisic acid (dark urine on standing), Renal stones
Bones: intervertebral disc calcification
Alkaptonuria Rx
Vit C
restrict phenylalanine and tyrosine
Beckwith-Wiedemann syndrome features
Assx: Wilm’s
Organomegaly
Abdo wall defects
Neonatal hypoglycaemia
Von Gierke’s disease defect
Glucose-6-phosphatase defect –> hepatic glycogen accumulation
Von Gierke’s features
Hypoglycaemia
Lactic acidosis
Hepatomegaly. (Von Gierke’s got a big liver - due to hepatic glycogen accumulation)
Pompe’s disease defect
Lysosomal alpha 1,4 glucosidase def
Pompe’s disease features
Cardiomegaly (Pompey’s got a big heart)
Cardiac, hepatic, muscle glycogen accumulation
Cori disease defect
Alpha 1,6, glucosidase defect
Cori disease features
Muscle dystonia
Hepatic, cardiac glycogen acccumulation
McArdle’s disease defect + features
The Ms
Myophosphorylase (glycogen phosphorylase) def, Muscle glycogen accumulation → Myalgia and Myoglobinuria with exercise.
Glycogen storage disease types
Type 1 - von Gierke’s
Type 2 - Pompe’s
Type 3 - Cori
Type 5 - McArdle’s
Gaucher’s disease defect
beta glucocerebrosidase def
Gaucher’s disease features
hepatosplenomegaly
Aseptic necrosis of femur
Tay-Sach’s features and deficiency
TaY-SaCHs
Young presentation (by 6 months) with developmental delay
Spleen + liver normal sized
Cherry-red spots on macula
Hexosaminidase A def → GM2 ganglioside accumulation in lysosomes
Niemann-Pick disease
sphingomyelinase def.
Hepatosplenomegaly + cherry red spots on macula
Fabry’s disease inheritance
X recessive
Fabry’s disease features
FABRY-C
Fever
Angiokeratomas (bathing trunk distr)
Alpha galactosidase A def
Burning (peripheral neuropathy)
Renal failure
Young
CVS disease (HF, fibrosis, CAD)
Corneal whorls keratopathy/lens opacification (cornea verticillata).
Fabry’s disease Rx
agalsidase alfa (replacing alpha galactosidase A)
Krabbe’s disease
Galactocerebrosidase def
Peripheral neuropathy
optic atrophy
globoid cells
Metachromatic leukodystrophy
Arylsulfatase A def
Demyelination of CNS, PNS
Hurler’s syndrome
Aut rec
alpha-1-iduronidase def → glycosaminoglycan accumulation (heparan, dermatan sulfate).
Gargoylism, hepatosplenomegaly
corneal clouding
Hunter syndrome
X recessive
Iduronate sulfatase def → glycosaminoglycan accumulation.
Coarse facial feature features, behavioural problems/LD, short stature
no corneal clouding.
Drugs triggering digoxin toxicity
ACCD
Anti-arrhythmics: Amiodarone, Quinidine
CCBs (rate limiting - Verapamil, Diltiazem)
Ciclosporin
Diuretics: Thiazides, Furosemide, Spironolactone (competes for DCT secretion)
Post-strep GN - how far is it preceeded by an infection?
7-14 days usually
Post-strep GN biopsy features
Acute, diffuse proliferative GN
Endothelial proliferation with neutrophils
EM: subepithelial ‘humps’ caused by lumpy immune complex deposits
Immunofluorescence: granular or ‘starry sky’ appearance
HyperCa causes other than hyperPTH or malignancy
Endocrine:
Acromegaly
Thyrotoxicosis
Addison’s
Paget’s
Drugs:
Thiazides
Ca-containing antacids
Others:
Sarcoidosis
Vit D intoxication
Milk-Alkali syndrome
Dehydration
Weber’s syndrome
Infarction in branches of posterior cerebral artery supplying midbrain
Ipsilateral CN III palsy
Contralateral weakness of upper + lower extremity
PICA infarct
Lateral Medullary syndrome
Ipsilateral facial pain and temperature loss
Contralateral limb/torso pain and temperature loss
Ataxia, nystagmus
AICA infarct
Lateral Pontine syndrome
Like PICA + ipsilateral facial paralysis + deafness
Features of severe falciparum
Blood film features:
Schizonts/late stage trophozoites on blood film
Parasitaemia >2%
Hypoglycaemia
Temp>39
Evidence of complications:
Cerebral: seizures, coma
Blackwater fever: intravascular haemolytic anaemia + AKI, with acidosis
ARDS
DIC
Rx for non-falciparum malaria
Artemisin-based combination therapy (ACT)
or
Chloroquine (if in sensitive regions)
Use of primaquine in non-falciparum malaria
Following acute ACT/chloroquine for ovale/vivax to destroy liver hypnozoites to prevent relapse
Causes of Type 1 RTA
Idiopathic
Rheumatoid Arthritis
SLE
Sjogren’s
Amphotericin B toxicity
Analgesic nephropathy
Causes of Type 2 RTA
Idiopathic
Fanconi syndrome
Wilson’s
Cystinosis
Outdated tetracyclines
Carbonic anhydrase inhibitors
Causes of Type 4 RTA
Hypoaldosteronism
Diabetes
Focal seizures Rx
- lamotrigine/levetiracetam
- carbamazepine, oxcarbazepine, zonisamide
Drug induced impaired glucose tolerance
TASTIN
Thiazide
Antipsychotics
Steroids
Tacrolimus/ciclosporin
IFN alpha
Nicotinic acid
S4 causes
Atrial contraction vs stiff ventricle (so coincides with p on ECG)
AHH!
AS
HOCM (double apex beat may be felt due to palpable 4)
HTN
Neuromyelitis optica features
b/l optic neuritis
Myelitis
Vomiting
NMO IgG Abs vs Aquaporin 4
Initially usually normal MRI
Neuromyelitis optica Rx
Rituximab
Causes of focal segmental glomerulosclerosis/nephritis
Idiopathic
Secondary to other renal pathology (eg IgA nephropathy, reflux nephropathy)
HIV
Heroin
Alport’s syndrome
Sickle cell
Focal segmental glomerulosclerosis biopsy features
Focal segmental sclerosis + hyalinosis on light microscopy
Effacement of foot processes on EM
Gram -ve cocci
Neisseria
Moraxella
Gram +ve rods
ABCDL
Actinomyces
Bacillus
Clostridium
Diphtheria
Listeria
WPW types with axis deviations
Right sided accessory pathway = LAD
Left sided accessory pathway = RAD
ASD types and axis deviation
Ostium primum = LAD
Ostium secundum = RAD
List some oncogenes (7)
erb-B2 (HER2/neu)
n-Myc
c-Myc
ABL
RET
RAS
BCL-2
What are the relatie LH and testosterone levels for Klinefelter’s vs Kallman’s vs Androgen insiensitivity syndrome vs testosterone-secreting tumours
Klinefelter’s - primary hypogonadism so high LH, low testosterone
Kallman’s - hypogonadotrophic hypogonadism so low LH + low testosterone
Androgen insensitivity syndrome: high LH with normal/high testosterone
Testosterone-secreting tumour: low LH, high testosterone
Erb-Duchenne palsy
upper trunk (C5-6) damage eg due to shoulder dystochia during birth
Waiter’s tip - arm hangs by side, internally rotated, elbow extended
Klumpke’s palsy
Lower trunk (C8, T1) damage
Assx with horner’s
Claw hand
Causes of high-output HF
Anaemia
AV malformation
Paget’s
Pregnancy
Thyrotoxicosis
Thiamine def (wet beri-beri)
Congruous vs incongrous homonymous hemianopia - where’s the lesion
Congruous - optic radiation or occipital cortex lesion
Incongruous - optic tract lesion
Macula sparing homonymous hemianopia - where is the lesion?
Occipital cortex (optic radiation would not spare macula)
Albinism inheritance
Aut rec
Becker vs Duchenne muscular dystrophies
Both due to X rec dystrophin gene mutation on Xp21
Duchenne has frameshift mutation (one or both binding sites of dystrophin being lost) resulting in severe disease, with proximal muscle weakness from 5 yrs, with 30% having intellectual impairment. Picked up with Gower’s sign (chid refuses to stand from squatted position)
Becker’s has non-frameshift mutation, so milder disease, developing from 10yrs
Nephrogenic diabetes insipidus genetic causes
X recessive
AVPR2 mutation for ADH receptor more common
Aquaporin 2 mutation less common
Nephrogenic diabetes insipidus non-genetic causes
HyperCa
HypoK
Lithium
Demeclocyclin
Tubulo-interstitial disease: obsttruction, sickle cell, pyelonephritis
Rx for nephrogenic diabetes insipidus
Thiazides
Low salt/protein diet
IgA nephropathy Rx
If isolated haematuria/minimal to no haematuria (<500-1000mg/day), normal GFR: f/u for renal function check
If persistent proteinuria (500-1000mg/day), normal/slightly reduced GFR: ACE inhibitors
Active disease/failure to respond to ACE inhibitors: steroids
Achalasia Rx:
1st line - Pneumatic balloon dilation
Heller cardiomyotomy if recurrent/persistent symptoms
Intra-sphincteric botulinum toxin if high risk
Behcet’s disease Rx
If eye involvement, oral steroids
2nd line - cyclophosphamide, azathioprine, etanercept
Small cell lung ca - which cells are they from?
APUD cells - high amine, high precursor uptake, high enzyme decarboxylase cells
Small cell lung ca paraneoplastic features
ADH –> SIADH
ACTH –> Cushing’s or b/l adrenal hyperplasia
VGCC Abs –> Lambert Eaton
Squamous cell lung ca paraneoplastic features
PTHrP
Clubbing
Hypertrophic pulmonary osteoarthropathy
Ectopic TSH –> hyperthyroid
Adenocarcinoma lung ca paraneoplastic features
Gynaecomastia
Hypertrophic pulmonary osteoarthropathy
Effect of CO poisoning on ventilation and peripheral chemoreceptors
No impact - peripheral chemoreceptors fail to detect resultant tissue hypoxia
What stimulates an increase in ventilatory rate?
Peripheral chemoreceptors detecting hypoxia
WHat drives an increased depth of inspiration?
CO2, via stimulation of central chemoreceptors in pons and medulla
Rx for erysipelas near nose or eye
Co-amox
Erysipelas commonest cause
S pyogenes
(beta haemolytic, Group A strep)
oromorph to sc morphine
/2
oromorph to sc diamorphine
/3
oromorph to oxycodone
/1.5-2
47F with Rheumatoid arthritis for past 3 years, treated with methotrexate. Suffered pain across her back of her neck over the past year with a recurrent sense of heaviness and muscle weakness affecting both her upper and lower limbs. Symptoms can be reproduced by adopting a flexion posture and there is obvious synovitis affecting the finger joints of both hands and her wrists. Flexion of her cervical spine is reduced by 30%
Which of the following is the most important first investigation?
- Cervical spine XR in the neutral and flexion position
- Lumbar puncture
- MRI of cervical spine
- nerve conduction studies
- Visual evoked potentials
Cervical spine XR in the neutral and flexion position
Atlantoaxial sublaxation due to deposition of pannus around dens, leading to instability between C1 and C2 cervical vertebrae
Mixed connective tissue disease antibodies
Anti-U1RNP and ANA +ve
(-ve for dsDNA, anti-scl70)
Endothelin antagonist SE
Teratogenic
Hepatotoxicity
Haemochromatosis genetics
Aut Rec
HFE gene Chr 6
C282Y, H63D mutations
Which features of Haemochromatosis are reversible with treatment
Skin pigmentation (bronze)
dilated CDM
Form of hypogonadism in Haemochromatosis
hypogonadotrophic hypogonadism
Iron studies in Haemochromatosis
raised ferritin, transferrin sats, iron
low TIBC
Rx for haemochromatosis
Venesection 1st line
Desferrioxamine 2nd line
Evolocumab
binds PCSK9, prevents binding to LDL receptors on liver surface, enhancing ability for liver to bind LDL and remove it
Reduces LDL by 60%
Recommended when LDL persistently above 4.0 despite maximal lipid-lowering therapy
How much does ezetimibe lower cholesterol by?
15-20%
Secondary hypothyroidism TFTs
Low T4 + TSH
In diabetic retinopathy when to use focal laser therapy vs pan-retinal photocoagulation?
Focal laser therapy for diabetic maculopathy with risk of permanent sight loss
Pan-retinal photocoagulation when severe peripheral retinal ishaemia +/- neovascularisation
Which cells are primarily responsible for immune memory?
T cells
When are additional atrial leads necessary for dual-chamber pacemakers?
When there are risks of pAF as well
Kallman’s inheritance
X recessive
Kallman’s form of hypogonadism
Hypogonadotrophic hypogonadism
Klinefelter’s hypogonadism form
hypergonadotrophic hypogonadism
(Klinefelter- tall - hypergonadotrophic)
Type 1 autoimmune polyendocrinopathy syndrome
MEDAC (multiple endocrine deficiency autoimmune candidiasis)
chronic mucocutaneous candidiasis in children
Addison’s
primary hypoPTH
Type 2 autoimmune polyendocrinopathy syndrome
Schmidt’s syndrome
Addison’s
T1DM
Autoimmune thyroid disease (hyper or hypo)
Type 2 Autoimmune polyendocrinopathy syndrome genetics
Polygenic
HLA DR3/4 association
Type 1 Autoimmune polyendocrinopathy syndrome genetics
Aut rec
AIRE1 mutation
Chr 21
MEN 1
MEN1 gene
3 Ps: hyperPTH, Pituitary tumours, pancreatic tumours
+ adrenal, thyroid tumours
MEN 2a
RET oncogene
1M, 2Ps:
Medullary thyroid ca (70%) (+ papillary thyroid Ca)
HyperPTH
Phaeochromocytoma
MEN 2b
RET oncogene
2Ms, 1P:
Medullary thyroid ca
Marfanoid
Phaeochromocytoma
Strongyloidiasis Rx
Ivermectin 1st line
Albendazole 2nd line
Venous drainage for the upper two-thirds of the oesophagus
Via oesophageal veins into azygous veins into SVC
Venous drainage for lower third of oesophagus
via superficial veins into left gastric vein into portal vein
Rx for restless leg syndrome
Treat IDA if present
Dopamine agonists 1st line (ropinirole, pramipexole)
Gabapentin also effective
Benzos can be tried
Cyanide poisoning enzyme inhibition
inhibition of cytochrome c oxidase –> cessation of mitochondrial electron transfer chain
Rx for cyanide poisoning
100% oxygen
IV hydroxycobalamin
Inhaled amyl nitritie
IV sodium nitrite
IV sodium thiosulfate
Salicylate overdose Rx
IV bicarbonate - urinary alkalisation
Haemodialysis (if acidosis resistant to treatment, AKI, pulm oedema, seizures, coma, conc>700)
Haemodialysis for overdoses
BLAST
Barbiturates
Lithium
Alcohool (including methanol)
Salicylates
Theophylline (charcoal haemoperfusion preferred)
Dermatomyositis Rx
- Prednisolone
- Azathioprine
- If co-existing lung disease, more aggressive immunotherapy - ciclosporin, cyclophosphamide
Baclofen MOA
GABA derivative
GABA-B agonist
Artery lying close to recurrent laryngeal nerve
Right INFERIOR thyroid artery bifurcation
Ankylosing Spondylitis Rx
Regular exercise
Physiotherapy
- NSAIDs
- Anti-TNF (eg adalimumab) if persistently high disease activity - after trialling two NSAIDs
If peripheral joint activity, DMARDs
Rx to reduce phosphate in CKD
Phosphate binders eg calcium acetate
Indication for teriparatide in osteoporosis
Two or more osteoporotic fractures
T score -3.5 or worse
Bell’s palsy Rx
High dose steroids (eg 60mg OD)
Wegener’s new name
GPA
cANCA target
PR3
pANCA target
MPO
Churg Strauss new name
eGPA
Ezetimibe MOA
NPC1L1 sterol transporter inhibitor
Fibrates MOA
PPAR alpha upregulation –> lipoprotein lipase upregulation, increases apoprotein A-I, A-II synthesis
Sideroblastic anaemia causes
D MELT
Delta-aminolevulinate synthase 2 deficiency
MDS
ETOH
Lead
TB meds
Sideroblastic anaemia Ix
microcytic anaemia
high ferritin, iron, transferrin sats
Basophilic stippling
Prussian blue/Perl’s staining for bone marrow film, with sideroblasts
Sideroblasti anaemia rx
supportive
pyridoxine
Lead poisoning cause
Ferrochetalase + ALA dehydrogenase defect
Oral features in lead poisoning
blue gum lines
Lead poisoning ix
high lead level in blood >10mcg/dl
microcytic anaemia
blood film:
basophilic stippling
clover leaf morphology
High serum + urine delta aminolaevulinic acid
high urinary coproporphyrin
Lead poisoning Rx
DMSA
D-penicillamine
EDTA
Dimercaprol
Acute Intermittent Porphyria Genetics
Aut Dom
porphobilinogen deaminase defect
Acute Intermittent Porphyria Ix
Raised urinary porphobilinogen
Red cell assay for porphobilinogen deaminase
Raised serum delta aminolaevulinic acid and porphobilinogen
Drugs precipitating AIT
BOBAHS
Barbiturates
Oral contraceptives
Benzos
Alcohol, Azithromycin
Halothane
Sulphonamides
Rx for AIT
IV haematin/haem arginate
IV glucose if not available
Porphyria cutanea tarda defect
uroporphyrinogen decarboxylase
Porphyria cutanea tarda ix
high urinary uroporphyrinogen
Pink fluorescence of urine under Wood’s lamp
Porphyria cutanea tarda Rx
chloroquine
Venesection if ferritin>600
Variegate porphyria genetics
Aut Dom
Protoporphyrinogen oxidase def
How to investigate for IDA in CKD
Percentage of hypochromic red cells >6%
If not available within 6 hrs, reticulocyte Hb content
Ferritin not recommended as it can be elevated due to chronic inflammation in CKD
Antibodies involved in type I hypersensitivity
IgE (bound to mast cells)
Type I hypersensitivity examples
Anaphylaxis
Atopy (eg asthma, eczema, hayfever)
Type II hypersensitivity examples
AIHA
ITP
Goodpasture’s
Pernicious anaemia
Acute haemolytic transfusion reactions
Rheumatic fever
Pemphigus vulgaris
Bullous pemphigoid
Type III hypersensitivity reaction examples
Serum sickness
SLE
Post-strep GN
Extrinsic allergic alveolitis (acute phase)
Type IV hypersensitivity reaction examples
TB/Tuberculin skin reactions
Graft vs host disease
Allergic contact dermatitis
Scabies
Extrinsic allergic alveolitis (chronic phase)
MS
GBS
HLA B27 assx
Ank spond
reactive arthritis
acute anterior uveitis
psoriatic arthritis
HLA DQ2/8 assx
coeliac
HLA DR2 assx
Narcolepsy
Goodpasture’s
HLA DR 3 assx
Dermatitis herpetiformis
Sjogren’s
PBC
HLA DR 4 assx
T1DM
Rheumatoid arthritis
Rheumatoid arthritis specific HLA assx
DRB1 gene
DRB104:01
DRB104:04
Stevens Johnson syndrome HLA Assx
HLA B*1502 - carbamazepine induced SJS + TEN in Han Chinese
Causes of Stevens Johnson syndrome
Abs: (symptoms within 1 wk)
Penicillin
Sulphonamides
AEDs: (within 2 months)
Lamotrigine
Carbamazepine
Phenytoin
Allopurinol
NSAIDs
Oral contraceptives
ASD murmur
ESM louder on inspiration
Truner’s hypogonadism type
hypergonadotrophic hypogonadism
Polymyositis Abs
Anti Jo-1
Prophylaxis of variceal haemorrhage
Propanolol
(or carvedilol)
Electrolytes in Rhabdomyolysis
HypoCa
HyperPO4
HyperK
Soft S1 causes
long PR
MR
Loud S1
MS
Soft S2
severe AS
S3 causes
diastolic filling of ventricle
LVF
dilated CDM
constrictive pericarditis (pericardial knock)
MR
Microscopic polyangiitis Abs
pANCA > cANCA
First pass metabolism drugs
Love at FIRST sight - Heart related meds
Aspirin
Isosorbide dinitrate
GTN
lignocaine
Propanolol
Verapamil
isoprenaline
Steroids + Testosterone
Zero order kinetics drugs
When you lose the girl (drink, heart attack, seziures)
Ethanol
Aspirin
Heparin
Seizures
Acetylator status drugs
HIgh SPeeD
Hydralazine
Isoniazid
Sulfasalazine
Procainamide
Dapsone
Causes for lower than expected HbA1c levels
(Basically reasons that would reduce RBC lifespan)
Sickle-cell anaemia
G6PD def
Hereditary spherocytosis
Haemodialysis
Higher than expected HbA1c levels
Vit B12, folate def
IDA
splenectomy
HbA1c 6% corresponds to what mmol/mol?
42
What does HbA1c of 6^ correspond to the average plasma glucose over last 3 months?
7.5
Formula for average plasma glucose from HbA1c by %
2*HbA1c - 4.5
PMR initial Rx
prednisolone 15mg OD for 3 wks with tapering
Increase to 25mg OD if uncontrolled
High dose steroids if evidence of teporal arteritis
Peutz Jeghers genetics
Aut Dom
LKB1 or STK11 gene mutations (encoding serine threonine kinase)
Where doess addition of mannose-6-phosphate happen and what is its purpose?
In the Golgi apparatus
To designate it for transport to lysosomes
Where does RNA splicing happen?
Nucleus
Where does RNA transcription happen?
Nucleus
What happens in the nucleolus?
Ribosome production
What does the lysosome do?
break down large molecules
What do peroxisomes do?
Very long chain fatty acid, amino acid catabolism
Forms hydrogen peroxide
What do proteasomes do?
Degrades protein molecules tagged with ubiquitin
What kind of iron does methaemoglobinaemia have?
Fe3+ instead of Fe2+, which cannot bind oxygen as well
Dissociation curve shifts left
Acquired causes of methaemoglobinaemia
Sulphonamides
Dapsones
Nitrates
Sodium nitroprusside
Primaquine
Aniline dyes
Rx for methaemoglobinaemia
If aquired, IV methylthioninium chloride (methylene blue)
If congenital, ascorbic acid
What immunoglobulin deficiency is commonest in cases of anaphylaxis to blood transfusions?
IgA deficiency
Immunodeficiencies - neutrophil disorders
Chronic granulomatous disease
Chediak-Higashi syndrome
Leukocyte Adhesion Deficiency
Chronic granulomatous disease defect
NADPH oxidase deficiency
Reduces ability of phagocytes to produce reactive oxygen species
Chronic granulomatous disease features
pneumonias
abscesses (esp catalase +ve -S aureus, fungi)
Chronic granulomatous disease ix
-ve nitroblue-tetrazolium test
abnormal dihydrorhodamine flow cytometry test
Chediak-Higashi syndrome defect
Microtubule polymerisation defect
Reduced phagocytosis
Chediak-Higashi syndrome features
Partial albinism in children
Peripheral neuropathy
Recurrent bacterial infection
Chediak-Higashi syndrome ix
Giant granules in neutrophils + platelets
Leukocyte adhesion deficiency defect
LFA-1 integrin (CD18) defect on neutrophils
Leukocyte adhesion deficiency features
Recurrent bacterial infections
Delay in umbilical cord sloughing
Absence of neutrophils/pus at sites of infection
Immunodeficiencies - B-cell disorders
CVID
Bruton’s X-linked congenital agamaglobulinaemia
Selective IgA deficiency
CVID features
Low Ab levels, esp IgG, IgM, IgA
Recurrent pneumias
Autoimmune disorders, lymphoma
Bruton’s X linked congenital agammaglobulinaemia defect
X rec
Bruton’s tyrosine kinase gene (BTK)
Severe block in B cell development
Bruton’s agammaglobulinaemia features
Recurrent bacterial infections
Absence of B-cells with reduced immunoglobulins of all classes
Selective IgA deficiency defect
B cell maturation defect
Which is the most common primary antibody deficiency
Selective IgA def
Selective IgA def features
Recurrent sinus and resp infections
Assx: coeliac - false -ve screen
Severe reactions to blood transfusions (anaphylaxis)
T-cell disorders
Di George’s syndrome
DiGeorge syndrome defect
Aut Dom
22q11.2 microdeletion
Di George syndrome features
CATCH 22
Cardiac abnormalities - Tetralogy of Fallot, Truncus arteriosus
Abnormal facies
Thymic aplasia
Cleft Palate
HypoCa/hypoPTH
22q11.2 microdeletion
Also:
Failure to develop 3rd, 4th pharyngeal pouches
LD
Recurrent viral/fungal infections
Immunodeficiencies - combined B and T cell disorders
SCID WAS Ataxic and Hyper
SCID
Wiskott-Aldrich Syndrome
Ataxic Telangiectasia
Hyper-IgM syndrome
SCID defect
X- linked - most often recessive
Defect in common gamma chain (protein used for IL-2 and other ILs)
Can also be due to adenosine deaminase def
SCID features
Recurrent infections (viral, bacterial, fungal)
Reduced T-cell receptor excision circles
SCID Rx
Stem cell transplantation
Wiskott-Aldrich Syndrome defect
X rec
WASP gene defect
Wiskott-Aldrich syndrome features
Recurrent bacterial infections
Eczema
Low platelets
Autoimmune + malignancy risk
Low IgM
Ataxic telangiectasia defect
Aut rec
DNA repair enzyme defect
Ataxic telangiectasia features
Cerebellar ataxia
Telangiectasia (spider angiomas)
Recurrent chest infections
10% riskof lymphoma/leukaemias
Hyper IgM syndrome defect
CD40 mutations
Hyper IgM syndrome features
infection/pneumocystis pneumonia
Hepatitis
Diarrhoea
Vitamin D actions
(Steroid hormone, fat-soluble)
Increases Ca + PO4
Increases gut Ca + PO4 absorption
Increases renal Ca + PO4 reabsorption
Regulates osteoblast activity
Suppresses PTH release
Facilitates PTH-induced osteoclast activation and bone resorption
Immuno-inflammation - maintains balance between Th1 and Th2 activity - reduces Th1 response to mitigate inflammation and tissue damage, upregulates Th2 response - anti-inflammatory
Where does vit D enhance PO4 reabsorption in the nephron?
PCT
PTH actions
Increases Ca
Reduces PO4
Increases renal Ca reabsorption
Reduces renal PO4 reabsorption
Increases osteoclast activity (indirectly)
Renal 1 alpha hydroxylation of 25 hydroxycholecalciferol
Calcitonin
From Thyroid C cells
Inhibits osteoclast activity
Inhibits renal tubular Ca reabsorption
Inferior MI - which artery is affected?
Distal RCA if right sided dominant
If left dominant, left circumflex
Rx for acne rosacea for flushing/erythema sx
Topical brimonidine (alpha agonist)
Mild/mod acne rosacea Rx
- topical ivermectin
Alternatives - (eg if pregnant)
topical metronidazole
azelaic acid (beware hypersensitivity)
Mod/severe acne rosacea rx
Topical ivermectin + oral doxycycline
When to refer for acne rosacea
If rhinophyma or refractory
To consider laser therapy if prominent telangiectasia
If suspicious of Brugada, what can you give to unmask ECG changes to make a diagnosis?
Ajmaline infusion
or
Flecainide
Brugada vs HOCM or Long QTc features
Episodes of VF much more often seen at night, when asleep in Brugada
In HOCM, long QTc, disturbances often related to exercise (except with inherited type III long QT syndrome)
WPW associations
HOCM
MVP
Ebstein’s
Thyrotoxicosis
ASD secundum
PRKAG2 gene mutation
Which drugs to avoid in HOCM
ACE inhibitors
Nitrates
Ionotropes
When comparing means across different populations/groups, which statistical test should be used?
Tukey’s range test
Upper zone fibrosis causes
CHARTS
Coal worker’s pneumoconiosis
Histiocytosis/Hypersensitivity pneumonitis
Ankylosing Spondylitis
Radiation
TB
Silicosis
Lower zone fibrosis causes
CIMBAA
Connective tissue disorders (Rheumatoid, SLE)
Idiopathic pulmonary fibrosis
Methotrexate
Bleomycin
Amiodarone
Asbestosis
Do diuretics affect preload or afterload?
Preload
58M with known right lower lobe bronchiectasis presents to ED with 200ml of haemoptysis. He states small amounts of haemoptysis over the last 3 months, with gradual increase in frequency.
He was admitted with RLL pneumonia one year ago.
Temperature 36.7, Pulse 105bpm, regular, BP 110/80, RR 23. Reduced breath sounds at right base. Sats 90% on air.
Hb 99
WCC 6.9
plt 303
Na 143
K 4.7
Cr 92
CXR: right basal patchy opacification
Which of the following is the most important intervention?
- CT angiography
- IV abx
- LMWH
- Routine bronchoscopy
- Tranexamic acid
CT angiography
Has had large haemoptysis withsteady increase of haemoptysis over last few months. Potentially life threatening bleed evidenced and it is likely that the bronchiectasis with inflammation/erosion is compromising a pulmonary vessel.
Currently, he is stable so CT angiography can be performed with the option to embolise a bleeding vessel with the help of IR
Bronchoscopy can also be considered on an urgent/emergency basis to achieve haemostasis, by bedside (not routine)
TXA can be used but more urgently, needs to find the cause of the bleed
Dx of catch scratch disease
Warthin-Starry staining for Bartonella
Brucellosis features
fever
malaise
hepatosplenomegaly
sacroiliitis
Hyperhidrosis - wet hay smell
Erythema nodosum
Compl of brucellosis
Osteomyelitis
Infective endocarditis
Meningoencephalitis
Orchitis
Leukopenia
Ix and dx for brucellosis
Rose Bengal plate test - screening
Serology - dx
Rx for brucellosis
Doxy + streptomycin
or
Doxy + rifampicin
6 weeks
Leptospirosis features:
Early:
Flu-like
Subconjunctival suffusion/haemorrhage
2nd phase - Weil’s disease:
AKI 50%
Hepatitis
Hepatomegaly
Aseptic meningitis
Cardiac
Leptospirosis ix
Serology - Abs present after 7 days
Microscopic agglutination test - paired acute + convalescent plasma samples 2 wks apart
PCR
Cultures (takes several weeks, urine culture +ve during 2nd wk of illness)
Rx for leptospirosis
High-dose benzylpenicillin
or
Doxycycline
Achondroplasia genetics
Aut Dom
FGFR-3
L3 sensory + motor
Sensory:
anterior portion of thigh down to medial epicondyle of femur
Motor:
Knee extension
How do NSAIDs cause renal damage over time?
COX inhibition –> reduced Prostaglandin E2 and I2, which are crucial for adequate renal perfusion via arteriolar dilatation
Gilbert’s syndrome genetics
Aut Rec
mild deficiency in bilirubin Uridine diphosphate glucuronosyltransferase
(UDP-glucuronyl transferase)
What is the direct precursor to bilirubin?
Biliverdin
Gilbert’s Ix
IV nicotinic acid –> causes rise in bilirubin
Inherited Causes of unconjugated bilirubinaemia
Gilbert’s
Crigler Najjar
Crigler najjar:
Type 1:
Aut Rec
Absolute UDP-glucuronosyl transferase deficiency
No survival beyond adulthood
Type 2:
More common and less severe than type 1
Inherited Causes of conjugated bilirubinaemia
Dubin-Johnson syndrome
Rotor syndrome
Dubin-Johnson syndrome
Aut Rec
Defect in cannalicular multispecific organ anion transporter (cMOAT) protein
Defective hepatic bilirubin excretion due to multidrug resistance protein 2 (MRP2)
Grossly black liver
Rotor syndrome
Aut rec
Defect in hepatic uptake and bilirubin storage
Benign
Investigations for sulfonylurea abuse
Has raised insulin and C-peptide
Requires urinary analysis for sulfonylureas
What kind of stuff’s on the Barthel index?
Feeding
Bathing
Grooming (incl dressing)
Bowel control
Bladder control
Toilet use
Mobility on a level surface
Ability to climb stairs
Sjogren’s Abs
ANA 70%
Rh Factor 50%
Anti-Ro 70%
anti-La 30%
Freiberg’s disease
Avascular necrosis of the second metatarsal
Seen in young women
May be related to stress or trauma
Blood supply to second metatarsal slightly tenuous and easily interrupted
XR: sclerotic, flattened metatarsal
Gene mutation responsible for rapidly progressive focal segmental glomerulosclerois in West African population
APOL1
Alport’s genetics
X dominant
Type 4 collagen defect
COL4A4 mutation
Impetigo Rx
hydrogen peroxide 1%
or
topical fusidic acid
or
topical mupirocin if resistance suspected or MRSA
or
Flucloxacillin (or erythromycin if pen allergic) if extensive
School exclusion 48hrs post abx start or until lesions have crusted over + healed
Alport’s syndrome features
Goodpasture’s-like
Renal:
Microscopic haematuria
Progressive renal failure
Ears:
B/l sensorineural deafness
Eyes:
Lenticonus
Retinitis pigmentosa
Leiomyoma
Aortic dissection
Fat soluble vitamins
ADEK
Sleep stages
The Sleep Doctor’s Brain
N1: Theta waves, light sleep, hypnic jerks
N2: Sleep spindles + K complexes, Deeper sleep, 50% of total sleep
N3: Delta waves, deep sleep, parasomnias (night terrors, nocturnal enuresis, sleepwalking)
REM: Beta waves, dreaming, atonia, erections
45M to be discharged following intentional paracetamol OD with 30 tablets, with symptoms of severe depression. What is the most appropriate next step?
- 28 days amitriptyline 100mg OD + CBT
- 7 days citalopram 20mg OD + CBT
- 7 days diazepam 5mg BD + CBT
- 28 days duloxetine 60mg OD + CBT
- CBT without medications
7 days citalopram 20mg OD + CBT
Should minimise access to harmful agents so only prescribe 7 days worth of meds. SSRIs are also safer than TCAs in OD
Prescription should be combined with CBT
MRI/CT showing leptomeningeal and pachymeningeal enhancement with dilated perivascular spaces
HIV +ve 35M presented with grand mal seizure, drowsy, confused, GCS 13, temp 38, bp 105/70, pulse 94, regular
Fundoscopy with b/l papilloedema
Cause?
Cryptococcal infection
Progressive multifocal leukoencephalopathy MRI and CT findings
CT - single/multiple lesions, no mass effect, no enhancement
MRI - high-signal demyelinating white matter lesion
Herpes simplex encephalitis CT/MRI findings
MR better
Medial temporal, inferior frontal changes (eg petechial haemorrhages)
Procyclidine MOA
anticholinergic
ADPKD genetics
Aut Dom
PKD1 in Chr 16
PKD 2 in Chr 4
IgA nephropathy biopsy
Mesangial hypercellularity
Immunofluorescence +ve for IgA, C3
Poor Prognosis factors for IgA nephropathy
Proteinuria
Male
HTN
ACE genotype DD
Smoking
High cholesterol
Good prognosis factors for IgA nephropathy
Frank haematuria
Alexia without agraphia - which brain lesion causes this?
Left posterior cerebral artery perfusing splenium of corpus callosum and left visual (occipital) cortex
CLL poor prognosis
Male
Age>70
Lymphocytes >50
Prolymphocytes >10%
Lymphocytes doubling in <12 months
Raised LDH
CD38 +ve
TP53 mutation
Deletion of short arm of Chr 17
Good prognosis factors in CLL
Deletion of long arm of Chr 13
Crypt abscesses in IBD
UC
Granulomas in IBD
Crohn’s
Rose thorn ulcers in IBD
Crohn’s
Patau syndrome
Trisomy 13
Microcephaly
Small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
Edward’s syndrome
Trisomy 18
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping fingers
Fragile X
LD
Macrocephaly
Long face
Large ears
Macro-orchidism
Noonan syndrome
Aut dom
Chr 12 (noon’s at 120
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
Cryptorchidism
Pierre-Robin syndrome
Micrognathia
Posterior displacement of tongue (can result in airway obstruction)
Cleft palate
Prader-Willi syndrome
Hypotonia
Hypogonadism
Obesity
William’s syndrome
Short stature
LD
Friendly, extrovert personality
Transient neonatal hyperCa
Supravalvular AS
Cri du chat syndrome
Chr 5p deletion
Characteristic cry (hence the name)
Larynx and neurological problems
Feeding difficulties and poor weight gain
LD
Microcephaly and micrognathism
Hypertelorism
Where is VIP secreted from
Small intestine
Pancreas
What does VIP do?
Stimulates pancreas and intestinal secretion
Inhibits acid secretion
Where is CCK released from
I cells in small intestine
5 main causes of massive splenomegaly
Myelofibrosis
CML
Visceral Leishmaniasis (kala-azar)
Malaria
Gaucher’s syndrome
Addison’s and calcium
HypoCa
Causes of high prolactin
Pregnancy
Prolactinoma
Oestrogens
Physiological (Stress, exercise, sleep)
Acromegaly
PCOS
Primary hypothyroidism
Dopamine antagonists
Antipsychotics
SSRIs
Opioids
Doxazosin SE
Pitting oedema of lower limb
Cardiac failure
Contraction of which muscle does clonus involve?
Gastrocnemius
Where is the insulin receptor located?
On the cell membrane - it is a tyrosine kinase transmembrane receptor
Types of aortic dissection
Type A - ascending aorta
Type B - descending aorta
DeBakey classification:
Type I - from ascending aorta –> aortic arch –> possibly more distal
Type II - just in ascending aorta
Type III - starts in descending aorta –> extends distally
Aortic dissection - what agent to lower bp with?
IV labetalol - for close titration
Beta blockers preferred as it reduces force of ventricular contraction
What is used for CMV prophylaxis?
Valganciclovir 450mg OD (better than ganciclovir)
Pyoderma gangrenosum features
Nodule developing rapidly to inflamed ulcerated lesion
Red-brown plaques over pre-tibial area, gradually extending and developing central atrophic skin with yellow discolouration
Necrobiosis lipoidica
What factor leads to high level of clearance via haemodialysis?
High water solubility
Low molecular size
Where does the PICA branch from?
Vertebral artery
Where does the AICA branch from?
Basilar artery
Most appropriate rx for unconscious hypoglycaemic?
IM glucagon 1mg
Diabetic nephropathy biopsy features
Basement membrane thickening
Capillary obliteration
Mesangial widening
Nodular hyaline areas (Kimmesltiel-Wilson nodule)
Endothelin actions
Natriuresis + Diuresis
Vasodilation (driven by NO release)
Bronchoconstriction
Where does the parietal lobe receive blood supply from?
Middle + anterior + posterior cerebral arteries
What should surfaces on wards be cleaned with to reduce sprea of C Diff?
Dilute bleach solution
Amlodipine SE
Flushing
Headache
Ankle swelling
Verapamil SE
HF
Constipation
Hypotension
Bradycardia
Flushing
Avoid in VT
Diltiazem SE
Hypotension
Bradycardia
HF
Ankle Swelling
Diphtheria Rx
IM penicillin
Diphtheria antitoxin
Diabetic nephropathy Rx
ACE inhibitors
What do you need to give for patients with primary pulmonary HTN who get pregnant and why?
LMWH due to risk of PE
What happens to pulse pressure with age?
Widens over time - SBP increases, DBP falls or stays the same
Due to arterial stiffness increasing over time
Markers in testicular cancer - seminomas
beta hCG 20%
LDH (more sensitive, much less specific)
Markers in testicular cancer - non-seminomas and teratomas
AFP +/- beta hCG in 80%
ARDS Causes
Infection - sepsis, pneumonia, COVID
Massive blood transfusion
Trauma
Smoke inhalation
Acute pancreatitis
Cardio-pulmonary bypass
Diagnosis of ARDS
Acute <1wk
B/l opacities on radiography/ b/l B lines and/or consolidations on USS not fully explained by effusions, atelectasis or nodules/masses
PaO2/FiO2<40
ARDS rx
Oxygenation +/- ventilation
19F, microcytic anaemia, normal menstrual cycle, suffers intermittent diarrhoea and abdo bloating, putting it down to her diet. BMI 23.
IDA noted on bloods
What is the likely underlying diagnosis?
Coeliac disease
Normal range of FEV1/FVC ratio
0.75-0.85
Rx for SBP
IV cefotaxime
SBP diagnosis
Ascitic tap neutrophils> 250 cells/ul
When to give Abx prophylaxis for SBP and what is the abx
If fluid protein <15g/l
If Child-Pugh >9
If hepatorenal
Give oral cipro/norfloxacin
Renin aldosterone ratio in Conn’s and RAS
Conn’s - low RAR
RAS - high RAR
HELLP syndrome Rx
4g MgSO4
Then, assess whether delivery possible/appropriate
Impaired near vision, impaired dark adaptation, optic-nerve drusen
Macular degeneration
LTOT in COPD criteria
PaO2<7.3 kPa
or
PaO2 7.3-8 kPa + secondary polycythaemia, peripheral oedema, pulm HTN
24F, RIF pain, Fever, Joint pain over last 10 days with mild diarrhoea. Returned from holiday in Thailand shortly before symptoms. Temp 38.2, bp 105/72, HR 95, regular. Tender in RIF and BS normal
Hb 131
WCC 13.3
Platelets 209
Na 142
K 4.5
Cr 82
CRP 175
Stool culture G -ve rod
Most likely organism
Yersinia enterocolitica
Yersinia enterocolitica Rx
aminoglycosides
Typical Antipsychotics Examples
Haloperidol
Chlorpromazine
Atypical antipsychotic examples
Clozapine
Risperidone
Olanzapine
Apiprazole
Creutzfeld-Jakob disease (CJD) MRI findings
hyperintense signals in basal ganglia, thalamus
Hockey stick sign in pulvinar region
What should be used with caution in AS
Bisoprolol
Nitrates
Cortical blindness lesion
Occipital lobes
Lithium action on nephrons
Nephrogenic diabetes insipidus
Reduced aquaporin 2 expression
Complications of SAH
Re-bleed
Hydrocephalus
Vasospasm
Hyponatraemia (SIADH)
Seizures
Gradual deterioration with headache and confusion after SAH
Hydrocephalus
When are re-bleeds most common post SAH
in 1st 12 hrs
Acutely painful red eye with cloudy anterior chamber
Anterior uveitis
Large A waves causes
Anything increasing right ventricular resistance when right atrium contracts so:
Right ventricular hypertrophy
Tricuspid stenosis
Pulmonary stenosis (due to RVH with pulm stenosis)
Pulm HTN
How to manage psychotic sx in Parkinson’s disease?
- Quetiapine
- Clozapine
Reverse split S2 causes
P2 before A2
LBBB
Severe AS
RV pacing
WPW type B
PDA
Widely split S2
Deep inspiration
RBBB
Pulm stenosis
Severe MR
Carney syndrome
Left atrial myxoma
Pituitary adenoma
25F, aquarium worker, with rash on dorsum of right hand that has been there for weeks. Ring of papules around 2cm across the dorsum of the hand. Each papule 1-2mm in diameter. Rash non-itchy.
Diagnosis?
Granuloma annulare
Mycobacterium marinum
Pityriasis rosea
Sarcoidosis
Tinea corporis
Granuloma annulare.
Mycobacterium marinum is a single erythematous nodular lesion rather than an arc of small papules
Mebendazole MOA
inhibiting the production of microtubules via binding to colchicine binding-site of β-tubulin and thereby blocking polymerization of tubulin dimer
Antibiotic for women with UTI who have eGFR <45
Pivmecillinam 400mg STAT + 200mg TDS 3 days
Carcinoid syndrome Rx
- Octreotide
- Telotristat - tryptophan hydroxylase inhibitor (blocks tryptophan to serotonin conversion)
What causes hepatorenal syndrome
Splanchnic VASODILATION –> RAAS activation –> renal vasoconstriction
32M worsening asthma despite taking high dose salmeterol fluticasone inhaler. He is obese and takes omeprazole for reflux symptoms which happens most evenings. His chest is clear on auscultation. His BMI is 31.
Hb 140
WCC 7.1
PLT 181
Na 142
K 3.9
Cr 80
Which of the following is the most useful next investigation?
- Bronchoscopy
- CT thorax
- Oesophageal pH monitoring
- Resp function test
- Serial peak- flow measurement
Oesophageal pH monitoring
GORD can lead to increase in vagal tone that can contribute to bronchial hyperreactivity. Micro-aspiration of acid into the bronchial tree also though to occur at night.
In immunocompetent Hep B infections, what is the treatment?
Observation - it is self-limiting in more than 90%
Drug causes of peripheral neuropathy
MAIN Venom
Metronidazole
Amiodarone
Isoniazid
Nitrofurantoin
Vincristine
Drugs causing lung fibrosis
CRANE
Cytotoxics (bleomycin, busulphan)
Rheumatoid rx (methotrexate, sulfasalazine)
Amiodarone
Nitrofurantoin
Ergot-derived dopaminergics (bromocriptine, cabergoline, pergolide)
Most common GI manifestations of CMV infection in HIV
Colitis (most common)
Oesophagitis
Monitoring requirements in myotonic dystrophy
ECGs - due to risk of atrial arrhythmias and heart blocks
Every 1-5 yrs
LV dysfunction also possible
Diffuse proliferative GN biopsy
Glomeruli showing endothelial and mesangial proliferation, ‘wire-loop’ appearance
EM: subendothelial immune complex deposits
Immunofluorescence: granular appearance
If severe:
thickened capillary wall due to immune complex deposits
Hydralazine SE
tachycardia
palpitations
flushing
fluid retention
headache
drug-induced lupus
Median nerve injury
LOAF muscles:
Lateral 2 lumbricals
Opponens pollicis
Abductor pollicis brevis
Flexor pollicis brevis
Injury at wrist –> thenar wasting + opponens pollicis weakness
Injury at elbow –> loss of pronation of forearm and weak wrist flexion
Sensory loss to palmar aspect of lateral 3.5 fingers
Membranoproliferative GN Biopsy
Type 1:
EM shows ‘tram-track’ appearance with subendothelial and mesangium immune deposits of electron-dense material
Type 2:
EM shows intramembranous immune complex deposits with ‘dense deposits’
Where is ghrelin secreted from?
P/D1 cells in stomach fundus and epsilon cells of pancreas
Sezary syndrome
T cell cutaneous lymphoma
Sx: pruritis, erythroderma, atypical t cells, lymphadenopathy, hepatosplenomegaly
How much does 1L of 0.9% saline increase intravascular volume?
200-250ml
Chronic Heart Failure 1st line Rx
ACEi + Beta blockers
If HR>75, beta blockers first
If HR<75, ACEi first
Normal gastric pH
1.5-3.5
Which schistosomiasis species causes bladder issues?
S haematobium
Causes pseudopapillomas in bladder causing inflammation and calcified egg clusters on XR, causing haematuria, obstructive uropathy, AKI, SCC
Which schistosomiasis causes Katayama fever most commonly and what is Katayama fever?
Schistosomiasis japonicum
Fever, urticaria/angioedema, cough, diarrhoea, eosinophilia
Threadworms species
Enterobius vermicularis
Threadworms rx
bendazoles
Commonest causes of visceral larva migrans
Toxocara canis - dog roundworm
How to treat dog roundworms?
Diethylcarbamazine
Commonest cause of cutaneous larva migrans?
Ancylostoma braziliense - dog hookworm
Dog hookworm rx
topical/oral thiabendazole
Elephantiasis cause and rx
Wuchereria bancrofti
Ditehylcarbamazine
Cystercosis/neurocystercosis cause and rx
Taenia solium - undercooked pork
Rx - bendazoles
Culture -ve Infective endocarditis
Prior abx therapy
Coxiella burnetii
Bartonella
Brucella
HACEK
Haemophilus
Actinobacillus
Cardiobacterium
Eikenella
Kingella
Poor prognosis factors in sarcoidosis
Insidious onset
Features>6 months
Absence of erythema nodosum
Extrapulmonary manifestations
CXR stage 3/4 features (interstitial infiltrates/fibrosis)
Black African/Afro-Caribbean
CRT in HF management
LVEF<35%
QRS >150
18F working in a nursery presents with sudden onset watery diarrhoea with mucus and blood over the past 6 hrs. Several staff and children have had the same symptoms over the last week. She has a 15mmHg postural drop in blood pressure moving from lying to standing and her heartrate is 95bpm and regular. She has a left sided abdominal tenderness.
Most likely diagnosis
Shigella sonnei infection
Acute watery diarrhoea with mucus or blood with significant postural hypotension when fluid loss significant.
Lasts for 3 days and resolves spontaneously. If very severe or immunocompromised, can consider azithromycin
Amyloidosis AL assx
MM
Waldenstrom’s
MGUS
Macroglossia
Amyloidosis AA assx
Adult Still’s
Rheumatoid
TB
Bronchiectasis
Amyloidosis B-2 microglobulin assx
renal dialysis
AA amyloidosis features
Nephrotic syndrome
Renal dysfunction
Can lead to ESRF
AL amyloidosis features
variable - SOB, weakness, proteinuria, nephrotic syndrome, impaired renal function, cardiomyopathy, heart failure
ATTR amyloidosis
aut dom variant
Which cells are increased in men vs in women in airways for CF
Men - neutrophils
Women - eosinophils, mast cells, T cells
Gitelman’s syndrome genetics
Aut Rec
SLC12A3 mutation
Defect in thiazide-sensitive NaCl transporter in DCT
Bartter’s genetics
Aut Rec
SLC12A1 mutation
Defective Cl absorption at Na/K/Cl co-transporter in ascending loop of Henle
Liddle’s syndrome genetics
Aut Dom
SCNN1B mutation
Epithelial Na channel defect in DCT
Time taken for keratinocyte turnover in normal vs in Psoriasis
28-30 days normal
3 days in psoriasis
Alopecia areata
Well demarcated alopecia
Small, broken ‘exclamation mark’ hairs
Scarring alopecia causes:
Trauma
Burns
Radiotherapy
Lichen planus
Discoid lupus
Tinea capitis
Non-scarring alopecia causes:
Male-pattern baldness
Drugs: cytotoxics, carbimazole, heparin, contraceptives, colchicine
Deficiencies: iron, zinc
Alopecia areata
Telogen effluvium (post-stressful period)
Trichotillomania
Most sensitive way to differentiate between acute and chronic renal failure
Serum PTH - lower in AKI
1st line rx in any prolactinomas
Cabergoline
Low T4 and normal TSH
Secondary hypothyroidism (TSH should be high but is inappropriately normal)
or
Sick euthyroid syndrome (can either have low or normal TSH)
Commonest congenital adrenal hyperplasia forms
21 hydroxylase deficiency (90%)
11 beta hydroxylase 5%
17 hydroxylase (rare)
Aplastic anaemia ix
Bone marrow aspirate and trephine biopsy - hypocellular bone marrow, absence of abnormal infiltrate or marrow fibrosis
Cutaneous Leishmaniasis
Leishmania tropica/mexicana
Crusted lesion at site of ulcer, may have underlying ulcer
Dx: punch biopsy - histology + culture
Miltefosine - Systemic rx if from South/Central America due to mucocutaneous risk, or if multiple (>4) or large (>5cm) lesions or involving face, hands, genitals, or immunocompromised, or if local rx fails
Mucocutaneous leishmaniasis
Leishmania braziliensis, guyanensis - from South/Central America
Lesions spread from ulcer to involve mucosae of nose, pharynx etc
Visceral leishmaniasis
Kala Azar
Leishmania donovani
(mediterranean, Asia, South America, Africa)
Fevers, sweats, rigors, massive splenomegaly with pancytopenia, hepatomegaly, anorexia, weight loss, grey skin
Dx by bone marrow or splenic aspirate - shows amastigotes
Visceral Leishmaniasis rx
Miltefosine
(Inhibits phosphatidylcholine synthesis)
or
Liposomal Amphotericin B
Chagas disease
American trypanosomiasis
T Cruzi
Triatomine bug
Chagomas, periorbital oedema
Myocarditis, dilated CDM with apical atrophy, arrhythmias
Mega GI - oesophagus, colon
Rx: azoles (benznidazole) or nitroderivateves (nifurtimox)
Sleeping sickness
African trypanosomiasis
T rhodiense (east) or gambiense (west)
Tsetse flies
Chancres, fevers, posterior cervical lymphadenopathy, later neuro sx
Rx: IV pentamidine/suramin, IV melarsoprol (later disease)
King’s college criteria for liver transplant
pH<7.3
or
INR>6.5 +
Creat >300 +
G3/4 encephalopathy
Aortic regurgitation murmur
Diastolic murmur over left sternal border (3/4th intercostal space)
Mechanism behind acute transplant rejection
Lymphocytes activated against donor antigens are present, with donor dendritic cells functioning as antigen-presenting cells
T-cell mediated - esp cytotoxic T cells
Types of Von Hippel Lindau disease
Type 1 - low risk of phaeo
Type 2 - have phaeo
2A - low risk of renal cell ca
2B - high risk of renal cell ca
2C - only have phaeo
What mediates hepatotoxicity with sodium valproate?
Mitochondrial dysfunction
Abs in systemic sclerosis with ILD
anti-topoisomerase 1 (anti-scl70)
Also, anti-Th/To, anti-Ro52/TRIM21, anti-U11/U12
HIV testing at 4 weeks since exposure
HIV-1 RNA testing - becomes +ve 1.5-2 wks post infection
P24 Ag testing reaches max sensitivity at 3.5 weeks so chance it might be falsely -ve at this time
Child-Pugh
Bilirubin: <34.2 - 1. 34.2-51.3 - 2. >51.3 - 3.
Ascites: absent - 1. Slight -2. Moderate - 3.
PT: <4 - 1. 4-6 - 2. >6 - 3.
Albumin: >35 -1. 28 -35 -2. <28 -3.
Encephalopathy: none - 1. 1-2 - 2. 3-4 - 3.
UC inducing remission in severe
- IV steroids
- IV ciclosporin or surgery if no improvement after 72hrs
Which type of Hb is increased in beta thalassaemia trate?
Hb A2
Carbimazole MOA
thyroid peroxidase inhibitor - stops it from coupling and iodinating tyrosine residues on thyroglobulin
Tinea capitis Rx
oral terbinafine for tricophyton tonsurans (commonest)
oral griseofulvin for microsporum canis (dogs/cats)
and,
Topical ketoconazole shampoo for 2wks to reduce transmission
HCC risk factors
Aflatoxin
Hep B more (more worldwide) than Hep C (more in Europe)
Cirrhosis
ETOH
HH
PBC
A1AT
hereditary tyrosinosis
Glyc storage disease
Contraceptives
Anabolic steroids
PCT
Males
DM
Metabolic syndrome
Rapid onset, painless loss of vision with flame haemorrhages
Central retinal vein occlusion
How does alcohol cause hypoglycaemia?
Exaggerated insulin secretion
Effect on pancreatic microcirculation
Redistribution of pancreatic blood flow from exocrine into endocrine parts
BRCA2
Chr 13
Breast
Ovarian
Prostate
Pancreas
BRCA1
Chr 17
Breast
Ovarian
When to stop anti-TB meds in context of deranged LFTs
Stop all TB meds if more than 5 x upper limit of normal
Long QT syndrome genetic defect
K channel ALPHA subunit defect
Chr 11
Jervell-Lange-Nielsen:
aut rec (deaf)
KCNQ1
Romano-Ward:
aut dom
How to treat Barrett’s oesophagus with low grade dysplasia?
High dose PPIs first
If no improvement/refractory, radiofrequency ablation
How to manage diabetes secondary to CF
Insulin
Progressive beta cell loss and defective insulin release occurs in CF
Evinacumab
anti-ANGPTL3 for familial hypercholesterolaemia
Evolocumab
PCSK9 inhibitor
prevents PCSK9-mediated LDLr degradation
Chancroid
Haemophilus ducreyi
(Painful ulcer + painful inguinal LN)
Painful genital ulcers
Unilateral, painful inguinal lymphadenopathy
Ulcers have sharply defined, ragged, undermined border
Lymphogranuloma venereum
Chlamydia trachomatis
(Painless ulcer, painful inguinal LN)
Stage 1: small PAINLESS pustule, later forms ulcer 3-12 days later
Stage 2: PAINFUL unilateral inguinal lymphadenopathy ‘buboes’. Groove sign - separation of inguinal nodes by inguinal ligament
Stage 3: proctocolitis
Granuloma inguinale
Donovanosis - Klebsiella granulomatis
Painless ulcer
Painless genital ulcers, can progress to significant tissue destruction if untreated
SIBO Dx
Hydrogen breath test
14-C D-xylose breath test
14-C-glychocolic acid breath test
Medial pontine syndrome
Occlusion of paramedian branches of basilar artery
Corticospinal - contralateral spastic hemiparesis
Medial lemniscus - controlateral loss of fine touch, vibration, position sense
Ipsilateral abducens
Medial medullary syndrome
Deviation of tongue to side of infarct
Contralateral limb weakness, fine touch, proprioception, vibration loss
Where are thyroid hormone receptors located?
Nucleus
(nuclear receptors)
Morphine metabolites that accumulate in renal failure
Morphine-6-glucuronide
Normorphine
Morphine-3-glucuronide
Where does gentamicin toxicity occur in the nephron?
PCT
Where does rhabdomyolysis primarily damage in the nephron
DCT
Right kidney anterior surface relations
Partly covered by peritoneum
Liver
2nd part of duodenum
Hepatic flexure of colon
Small intestine
Right kidney lateral border relations
Right lobe of liver
Hepatic flexure of colon
Left kidney anterior surface relations
Partly covered by peritoneum
Spleen
Stomach
Pancreas
Splenic vessels
Jejunum
Splenic flexure
Descending colon
Left kidney lateral border relations
spleen
descending colon
Alzheimer’s genetics
5% aut dom
amyloid precursor protein - chr 21
Presenilin 1 - chr 14
Presenilin 2 - chr 1
Apoprotein E allele E4 - cholesterol transport protein
Amoebiasis
Entaemoeba histolytica
Inc period >7 days
Amoebic dysentery - long incubation period, abdo pain. Trophozoites on stool microscopy (hot stool required)
Amoebic liver abscess - RUQ pain, ‘anchovy sauce’ liver contents, hepatomegaly
Rx: oral metronidazole + luminal agent (eg diloxanide furoate)
Steroid replacement in Addison’s
15-25mg/day in two divided doses of oral hydrocortisone
That’s 4mg/day prednisolone
29F with flu-like illness a few days post C-section, which involved a 3 unit blood transfusion.
Pharyngitis and cervical lymphadenopathy seen
Likely cause:
Coxsackie B virus
CMV
EBV
HHV7
Parvovirus B19
CMV
Esp in light of 3U RBC transfusion - can mimick EBV. In adults, most have already been exposed to EBV, making it less likely in this age.
When should metformin be stopped in renal failure?
GFR<30
Dose reduction if GFR 30-45
Leber’s hereditary optic neuropathy
Mitochondrial
9:1 M:F
Progressive unilateral optic neuropathy, other eye affected months/yrs afterwards
Some also have proximal myopathy, with hypertonia
Fundoscopy - telangiectasias, pseudo-oedema of optic disc
Gynaecomastia drug causes
DISCO + FC
Digoxin
Isoniazid
Spironolactone
Cimetidine
Oestrogen
Finasteride
Cannabis
Pneumococcal meningitis Rx
Ceftriaxone + Vancomycin
CPM mechanism
Astrocyte apoptosis before oligodendrocyte apoptosis and degeneration as well as myelinolysis
42F, BG of Sjogren’s syndrome with left sided swelling of face - 2cm smooth swelling at angle of left jaw. Most likely dx?
Parotid gland stone
Compl of pan-retinal photocoagulation
Loss of night, peripheral, colour vision
Pelger-Huet anomaly
Aut Dom
Defect in lamin B receptor gene
Bilobed dumb-bell shaped nuclei
Homozygotes have dysfunctional neutrophils - may have increased bacterial inf risk + skeletal abnormalities
What causes haemoptysis in bronchiectasis?
Erosion and rupture of pulmonary capillaries or adjacent bronchial arteries
May require embolisation if massive
Strongest RFs for osteonecrosis of jaw when on bisphosphonates
Dental caries - greatest risk
Smoking
Age>65
long-term steroid use
What contributes to IDA in CKD
Increased hepcidin - reduce oral iron absorption from duodenum by degrading ferroportin
(may benefit better from ferinject)
Accidental Adrenaline injection into digits Rx
Topical nitroglycerin initially
Then consider phentolamine injection
ECG feature signifying highest risk of cardiac arrest in hyperK
long QT
Poor prognosis in AML
Age >60yrs
>20% blasts post 1st chemo
Chr 5 or 7 deletion
Most likely abnormality on Lung function tests for obesity
Reduced expiratory reserve volume
In severe obesity, reduced total lung capacity and FVC (but most likely to be normal in regular obesity)
Avascular necrosis of hip features
Deep pain, worsened with exercise and when lying on affected side.
Radiates to groin
Nintedanib
Tyrosine kinase inhibitor for IPF
Lewy Body Dementia Rx
ACh-esterase inhibitors - donepezil, rivastigmine
NMDAr antagonists - memantine
Avoid neuroleptics and dopamine antagonists (can develop irreversible parkinsonism)
24M with neutropenic sepsis c/o blurred vision in his left eye. Fundoscopy shows yellow-white ball-like lesions affecting retina with blurred edges.
Likely cause?
Candida albicans chorioretinitis
Haematogenous spread in neutropenic pts. Systemic antifungals needed eg voriconazole
Growth hormone in pregnancy
Rise initially
Fall from wk 15-17
(due to -ve feedback loop from IGF1 that placental growth hormone initially drives increase of)
ACTH hormone in pregnancy
Rise progressively
Oxytocin in pregnancy
Rise from T1-T3, then fall from post-partum period
Prolactin during pregnancy
Rise
TSH in pregancy
Rise and peak at wk 24-28
Most prominent Waldenstrom’s Macroglobulinaemia features
Hyperviscosity - headache, blurred vision, dizziness
62F reviewed in renal clinic with acidosis, hypoNa, hypoK. Recently completed chemo for breast Ca
Where is the most likely site of her renal injury?
PCT - 70% of solutes including Na, K, HCO3, glucose reabsorbed in PCT.
Chemo agents like ofosamide, oxaplatin can result in proximal RTA
Which CD is present on mantle cells
CD5
Which CD is on macrophages
CD14
Which CD is on Reed Sternberg cells
CD15
Which CD is the Fc of IgG
CD16
Which CD is on EBV receptors
CD21
Which CD acts as a co-stimulatory receptor on T cells
CD28
Which CD is present on leucocytes
CD45
Which CD is uniquely present on T killer cells
CD56
Which CD is the FAS receptor?
CD95
What molecular role does Vit B12 play?
Cofactor for methionine synthase function - prevents homocysteine rise, generating tetrahydrofolate and methionine
Also cofactor forL-methylmalonyl-coenzyme A mutase function
Actinic keratosis Rx
0.5% fluorouracil for 6-12wks
Alternative: salicylic acid, imiquimod, diclofenac
Rx choice when VT persists, failed chemical cardioversion with focal structural source of arrhythmia found?
Radiofrequency ablation
18M of West African heritage, anaemic, no symptoms with moderate splenomegaly
Hb 130
Blood film: target cells
MCV 101
WCC 8.1
Plt 209
Na 143
K 4.9
Cr 90
Most likely cause of his anaemia
Haemoglobin C trait
Common in West Africa, with MCV at top end of normal suggesting reticulocyte count. Target cells present with this
Anti-NMDA paraneoplastic
Encephalitis
50% ovarian teratomas assx
Anti-Hu paraneoplastic
Assx:
small cell lung ca
neuroblastomas
Sx:
sensory neuropathy (painful)
cerebellar syndrome
encephalomyelitis
(Hu kicked my chair (pain) and then fell over (ataxia))
Anti-Yo paraneoplastic
Assx: ovarian, breast ca
(Yo lady (ovarian, breast ca) give me back my DANISH)
Sx: cerebellar syndrome
Anti-GAD paraneoplastic
Assx: breast, colorectal, small cell lung ca
Sx: stiff person’s syndrome, diffuse hypertonia
(GAD I’m stiff)
Anti-Ri paraneoplastic
Small breasts Ri-eally blurry vision
Assx: breast, small cell lung ca
Sx: ocular opsoclonus-myoclonus
(Ri-elly blurry vision)
Purkinje cell Ab paraneoplastic
Assx: breast ca
Sx: peripheral neuropathy
MODYs commonest to least commonest
MODYs (aut dom): Dx with genetic testing. Rx: sulfonylureas
3-2-1, 45.
MODY 3 (60%): HNF1A, progressive, higher risk for complications, Rx: low-dose sulfonylureas
MODY 2 (20%): GCK, stable, fasting hyperglycaemia. Rx: none required
MODY1: HNF4A, progressive, reduced endogenous insulin secretion, higher risk for complications
MODY4: PDX1
MODY5: HNF1B
Psoriatic arthritis Rx
Mild: NSAIDs
Mod/severe:
- methotrexate
- mAbs:
ustekinumab (IL12 + IL23)
secukinumab (IL17) - apremilast (PDE4 inh, anti-inflammatory)
Prognosis: better than Rh Arth
57M with nausea, diarrhoea, facial flushing, SOB, palpitations 15-30mins post meal, after a partial gastrectomy for peptic ulcer disease 3/12 ago
Most appropriate intervention?
Frequent, small, high-fibre, high-protein meals
Pt has gastric dumping - change in eating patterns recommended. This likely developed post-op due to pyloric sphincter loss of function
Can consider octreotide
Carotid artery dissection ix
MR angiography most sensitive
In MS with spasticity in a pt who is independent and high functioning, what is the recommended Rx?
Local therapy with botulinum toxin initially
Baclofen usually 1st line for spasticity but if it is localised then botulinum toxin may be preferred
27F, 29wks pregnant, with pain in left calf and left sided pleuritic chest pain. Calf mildly tender and 4cm greater in diameter than right calf.
BP 122/72, HR 95bpm at rest.
Chest clear on auscultation
Most appropriate investigation?
Duplex ultrasound left leg
V/Q scan has risks of baby cancer
CTPA has risks of breast cancer
So avoid these if possible by doing a duplex USS if high suspicion of DVT and treat if +ve for DVT
Silicosis CXR
Upper zone fibrosis
Reticulonodular shadowing
Eggshell LN calcification
34F with kidney-pancreas transplant for T1DM presents with deteriorating renal function.
She received a 5-day course of 50mg Fluconazole for oral candidiasis 2 weeks ago.
Her immunosuppressive regimen includes tacrolimus, prednisolone, mycophenolate mofetil.
She feels well and has no symptoms.
Hb 112
WCC 3.9
CRP 9
Plt 221
Na 143
K 4.9
Cr 220
What is the most likely cause of this patient’s symptoms?
Tacrolimus toxicity
Due to CYP450 inhibition by fluconazole resulting in increased tacrolimus levels, resulting in renal failure
Conduction aphasia
Subcortical lesion near left superior temporal gyrus - in arcuate fasciculus in dominant hemisphere
Lambert-Eaton Rx
Amifampridine - 3,4-diaminopyridine (increases ACh conc at NMJ, selectively inhibits presynaptic fast voltage gated K channels)
Immunosuppression with prednisolone, azathioprine
IVIG
Plasma exchange
Cellulitis related to DM - rx?
Co-amoxiclav - broad spectrum coverage
What investigations to perform for achalasia?
Needs upper GI endoscopy first as 1/3 have malignancy
Then Oesophageal manometry, barium swallow to diagnose
Medullary sponge kidney
Predisposes to recurrent renal stones
Can be aut dom
CT urography to dx
Potassium citrate to improve bone density
Infective endocarditis blind therapy
Native valve: amox + gent
Prosthetic valve: vanc + rifampicin + gent
Pen allergic: vanc + gent
Infective endocarditis Staphylococci rx
Native valve: fluclox
Pen allergic/MRSA: vanc + rifampicin
Prosthetic valve: fluclox + rifampicin + gent
Pen allergic/MRSA: vanc + rifampicin + gent
Streptococci infective endocarditis rx
Fully-sensitive: benzylpenicillin
Pen allergic: vanc + gent
Less sensitive: benzylpenicillin + gent
Pen allergic: vanc + gent
CSF production
Choroid plexus
CSF absorption
Arachnoid granulations
Menstrual migraines with highly predictable attacks - rx option when acute episodes are not responding adequately to intervention?
Zolmitriptan or frovatriptan as prophylaxis on days when headaches expected
Down’s cardiac assx
endocardial cushion defects
Combined AVSD
VSD
Secundum ASD
Tetralogy of Fallot (VSD, overriding aorta, pulm sten, rvh)
Isolated PDA
35M with abdo bloating, cramps, watery diarrhoea. Returned a short time ago from a luxury hotel in Tunisia. 5 of his relatives and friends who stayed at the same hotel and used the swimming pool are also unwell.
Hb 125
WCC 7.2
CRP 65
Plt 185
Na 142
K 3.4
Cr 112
Cause?
Giardia lamblia
Swimming pools can easily spread giardia
rx with metronidazole
Couple aged 25 and 27 referred to genetics clinic after having a 2nd child with trisomy 21. Planning for 3rd child
Next step?
Karyotyping of both parents
Robertsonian translocation likely cause in this case
Commonest cause of trisomy 21
Non-disjunction (maternal)
Risk at 40 1/100
Severe asthma, eosinophilic, taking high-dose ICS + LABA + LTRA
Most appropriate next intervention?
Mepolizumab
Anti-IL5 mAb - lowers eosiniophil count
Where are Beta 3 adrenergic receptors found?
Adipose tissue
Bladder smooth muscle
Severe COPD patient with 2 or more exacerbations in last 12 months despite triple therapy
FEV1<50% of normal post-bronchodilator therapy
Treatment option
Roflumilast
PDE4 inhibitor
COPD stages by FEV1
1- FEV1>80%
2- FEV1 50-79
3 - FEV1 30-49
4 - <30
Syphilis Rx
IM benzathine penicillin
Alt: doxy 14 days
Causes of false +ve non-treponemal (VDRL, RPR) tests
Pregnancy
Systemic: SLE, APLS
Infections:
TB
Leprosy
Malaria
HIV
SVT prophylaxis/prevention
Beta blockers - metoprolol
Radio-frequency ablation
UTI rx in pregnant
- Nitrofurantoin
- Amoxicillin or cephalosporins
Pregabalin MOA
Voltage gated Ca channel inhibitor
Specifically on alpha 2 delta subunit
Although GABA analogue, no direct agonist acitvity on GABA A or B receptors - but does lead to increase in L-glutamic acid decarboxylase responsible for GABA synthesis
Most common type of bladder caner
Urothelial/Transitional cell
Anti-emetic option in terminal care when there is bowel obstruction
Haloperidol
Is azathioprine teratogenic?
No
Is mycophenolate mofetil teratogenic?
Yes
Is tacrolimus teratogenic?
Yes - preterm birth increased
Inciting pathological event in T2DM
Ectopic fat deposition - ie in visceral places next to liver and muscle
What deficiencies do you commonly see post gastric bypass
Zinc
ADEK vitamins
Goserelin MOA
GnRH AGONIST
Cowden’s syndrome
Aut Dom
PTEN mutation (tumour suppressor gene)
Breast
Colon
Thyroid
Endometrial
Haemartomas
Mucocutaneous neuromas
acral keratosis
How to monitor papillary thyroid cancer
Thyroglobulin levels yearly
Familial hypocalciuric hypercalcaemia
No sx of hyperCa
Aut Dom
Urine Ca:creatinine clearance ratio <0.01
PTH norma
Reduced 24hr urine ca
