Do PTH to see if hyperparathyroidism (primary, or secondary to adenoma).
Do urinary calcium:creatinine ratio to exclude familial hypercalcaemic hypocalciuria (24 hour better?).
USS kidneys for nephrocalcinosis and to exclude tumour – CT head and tumour markers.
Genetics for Williams syndrome. Panels for nephrocalcinosis.
Treatment is hyperhydration.
Eposters now of course as well as conference A1 old school ones.
Same as with a presentation, really. Use headings and subheadings. Bullet points. Don’t mix up fonts and font sizes too much. Beware getting too close to the edges, and avoid the temptation to fill in white space! Beware jargon and acronyms.
The A4 test – if you can read your poster printed at A4, then it should work ok as an A1 poster too.
More tips here – https://xerte.shef.ac.uk/play.php?template_id=1259#page1
And use of images here – https://www.sheffield.ac.uk/library/copyright/using-images-and-other-media
Have a pointer so you can talk through your poster easily. Turn back to your audience frequently and establish eye contact.
If a new person joins midway through, welcome them (if only with eye contact and a smile) and afterwards check if they need it explained again.
Prepare your “elevator pitch” – 3 sentence synopsis: What is it about? What did you find? Why is it important?
Keep bigger picture in mind, as some people might need more background info.
Present your poster as you would anything else – like a story. Context, characters, surprises, meaning, future.
Handouts – beware, you might stop someone talking to you by giving them a handout.
Business cards (if you don’t put your contact details on a handout).
Network – if someone particularly interested, offer to have a chat later rather than ignoring other people.
Get feedback – random comments sometimes indicate that you haven’t explained yourself fully, or you haven’t appreciated a different angle, so ask for clarification.
Thank people for interest – potential future colleagues/employers!
Incubation period can be more than 1yr!
Nasty viral infection that travels slowly through the nervous system until it reaches the brain. Around 30 people have survived but often with severe disability.
A 15yr old girl from Milwaukee survived with only mild neurological sequelae (reported in 2005) after treatment with induced coma (midazolam, barbiturates, ketamine) and antivirals (amantadine and ribavirin). The aim was to maintain burst suppression until rabies antibodies in the CSF started to increase (day 8). Extubated on day 27. Since then this approach has been tried multiple times, with poorly reported outcomes – has been criticised for lack of evidence of benefit but also for poor evidence for underlying therapeutic principles [Alan Jackson, neurologist at University of Calgary].
Any warm blooded animal is a potential risk, including bats, monkeys and rodents as well as cats, dogs and foxes. Animals behaving abnormally represent a higher risk of infection (but normal appearance and behaviour do not exclude rabies) – unprovoked bites obviously suggest abnormal behaviour, and carry greater risk than provoked bites.
Domestic dogs or cats behaving normally at 15 days after an exposure would not have been infectious at the time of the exposure.
The risk of infection depends on:
For more on bites, see PHS bat bites page and PHS other animal bites page.
Determine “combined country or animal risk” – Rabies risks by country – GOV.UK
Determine category of exposure – grade 1-3, with 1 being no physical contact with saliva, 3 being direct contact. Slightly different rules for bats!
Combine the 2 according to the risk matrix –
Green get nothing, obviously, amber get rapid vaccine schedule (days 0, 3, 7, 21) – modified if fully immunised already or immunosuppressed. Red get rapid vaccine schedule plus Human Rabies Immunoglobulin.
A short sweet list.
Acutely, Hand-Foot-Mouth (Coxsackie, or another enterovirus) is the most common. Measles can affect your palms/soles but would be everywhere…
Gianotti-Crosti syndrome typically affects hands.
Kawasaki and Toxic shock prior to desquamation.
Chronically, Scabies, pompholyx (type of eczema), Pustular psoriasis, Secondary syphilis, Janeway lesions (endocarditis).
Typically closes around 12 months of age. Can be bulging (meningitis?), sunken (dehydration), pulsatile (normal!), large (hypothyroidism), small (craniosynostosis). But actually not very predictive of any of these things in isolation.
For example – in Brazilian study of babies with craniosynostosis compared with babies with fontanelle that closed by 6 months, only 36% sensitive for craniosynostosis, and positive predictive value 59%. [https://doi.org/10.1016/j.jped.2021.10.004]
Do not diagnose asthma without objective test.
Feno (if available) >35ppb diagnostic, age 5+. If not diagnostic, measure BDR with spirometry. Diagnose asthma if the FEV1 increase is 12% or more from baseline (or if the FEV1 increase is 10% or more of the predicted normal FEV1).
If spirometer not available, measure PEF twice daily for 2 weeks. Diagnose asthma if PEF variability (expressed as amplitude percentage mean – the difference between the highest and lowest PEFR readings on a given day, divided by the mean of those readings, averaged over period) is 20% or more.
Failing that, either positive skin prick testing to house dust mite or measure total IgE level plus blood eosinophil count. Raised total IgE plus Eos >0.5 considered diagnostic! [Because highlights underlying atopy cf viral wheeze?]
Under 5, prescribe steroids [not just salbutamol!] for 8-12 weeks and review. [No dosage guide for under 5s!?] Then do objective test when they reach 5! If no response, check technique, consider environmental triggers (mould, smoke etc), consider alternative diagnosis, refer.
If making asthma diagnosis, record basis for this in notes.
Under 5, consider stopping ICS at 3-6 months or else within 12 months.
If helps but then symptoms recur, can try moderate ICS dose. After that, 8-12 week trial LTRA.
Uncontrolled = exacerbation requiring oral steroids, or use of SABA 3 days a week or more, or night waking once per week or more.
New section on diagnosis at time of acute presentation!
Refer to a specialist respiratory paediatrician any preschool child with an admission to hospital, or 2 or more emergency department admissions in a 12-month period.
Age 5-11, start low dose ICS. After that, assess ability to manage MART (maintenance and reliever therapy) regimen (none licensed under 12, so would be off label). Start low (Budesonide 100/3 MDI or 100/6 Turbohaler – see below for brands), 2 puffs/sucks per day in 1-2 divided doses), go to moderate (300-400mcg per day) if necessary. [No evidence for MDI, only for dry powder!]
Otherwise would be trial of LRTA, then add LABA, then increase ICS to moderate.
12+, start Anti-inflammatory reliever (AIR) therapy with prn combination ICS/LABA inhaler (only budesonide/formoterol licensed for this). This strategy had lowest rate of severe exacerbations (plus cheaper). WockAir is cheapest.
If highly symptomatic at presentation could start MART +/- oral steroids with view to stepping down.
If MART required and still symptomatic on moderate dose, check FENO and eosinophil count – refer if either high. Otherwise trial of either a LTRA or a long-acting muscarinic receptor antagonist (LAMA, eg tiotropium).
Beware neuropsychiatric side effects of LTRA/montelukast. Review annually.
Duoresp Spiromax 160/4.5 (powder, 12+ – on NHSL adult formulary) – For MART, 2 inhalations daily in 1-2 divided doses (up to 2 BD); PLUS 1 inhalation PRN for relief up to 8 in a day (up to 12 for a limited time but medical assessment recommended). Also comes in 320/9 but only for maintenance.
Symbicort 100/6 turbohaler (powder) 6+ for maintenance. 12+ for MART
Symbicort 200/6 (powder, 12+ – on NHSL adult formulary) MART as above. Else AIR – 1 puff PRN, up to 6-8 (up to 12 for limited time).
Symbicort 100/3 MDI 12+ MART – 4 puffs daily in 1-2 divided doses, up to 4 BD. 2 puffs PRN for relief up to 12-16 in a day (max 24)
Wockair 160/4.5 (powder) cheapest! (£19) MART 2 inhalations daily in 1-2 divided doses, up to 2 BD. 1 inhalation PRN up to 6-8 (max 12). Else AIR – as above
Fobumix 80/4.5 Easyhaler 6+ for maintenance, 12+ for MART.
Fobumix 160/4.5 Easyhaler 12+ MART or AIR.
House dust mite reduction measures not routinely recommended. Evidence on removal of pets from homes “paradoxical” – no benefit or tolerance if continued presence. If detectable cat antigens without cat, might be benefit to high efficiency vacuum cleaning or additional measures.
Air pollution linked to worse symptoms.
High sodium and low magnesium intake linked to asthma symptoms but poor/no evidence that intervention makes a difference. High intake of fresh fruit and vegetables is associated with less asthma and better pulmonary function but no interventional studies.
Weight loss interventions may help asthma symptoms in overweight/obese, and should be considered, but may require >10% loss for benefit.
Breathing exercises eg Papworth/Buteyko methods can lead to modest improvements in asthma symptoms and quality of life, and reduce bronchodilator requirement, in adults with asthma. Less evidence for effect on lung function or airway inflammation. Insufficient evidence in children.
Monitor asthma symptoms, plus check:
FENO can be considered for monitoring in adults only. Peak flows not routinely indicated for monitoring.
Not much! Separate section on self management. Vaping/smoking. Factors that affect inhaler use eg school/social. Career plans.
[NICE NG245]A spectrum of disorders where the normal left-right arrangement of organs in the body is disturbed (“errors of lateralisation”).
Situs inversus is complete mirror image arrangement – there are no health consequences as a result (other than iatrogenic eg delayed diagnosis of appendicitis).
Many genetic causes. Primary cilial dyskinesia (Kartagener syndrome) is one.
Heart – IVC can be interrupted, requiring azygos veins to drain lower body vessels back to heart. Many variations of valves and connections seen. Congenital heart block often seen.
Gut – malrotation, biliary atresia
Asplenia or polysplenia.
Horseshoe or dysplastic kidneys.
Dystrophin is largest gene in body – prone to duplications/deletions. Large errors can be picked up quickly on testing. Point mutations (30%) take more sequencing work.
Duchenne MD is X-linked but girls can get symptoms (or develop later dilated cardiomyopathy) due to lyonisation.
Life expectancy was 18-20 yrs but now with steroids and non-invasive ventilation, 40 plus.
Different natural history trajectories identified – makes trials hard, as not comparable…
Becker muscular dystrophy is similar but less severe. Other muscular dystrophies include myotonic dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophies, and congenital muscular dystrophies. Spinal muscular atrophy related. Management of all similar.
Often delayed (average 2.5 years after onset of symptoms), especially if there are developmental issues that perhaps distract from the motor delay problem (mean age 6.6 years if developmental issues, cf 4.9 years if not). Classically delayed motor milestones, frequent falls, abnormal gait, muscle pain; but sometimes speech and language delay, learning difficulty more prominent. Urine/bowel issues. Later difficulty with jumping, running, climbing steps, and rising from the floor.
Leg flexors tend to stay strong cf extensors – leads to lordosis and contractures, and classic posture where weight forward to avoid jack knifing.
Calf hypertrophy classic. Tone and reflexes reduced (cf cerebral palsy).
Gower’s sign – using hands/arms to get up from floor and to standing position
Creatine kinase levels are elevated. Diagnosis is confirmed by genetic testing.
If CK normal, then EMG and muscle biopsy required.
Lung function should be monitored.
Steroids eg deflazacort are recommended from diagnosis. Preserves ambulation, respiratory function (delays the need for mechanical ventilation); avoids/delays scoliosis surgery; delays onset of cardiomyopathy; increased survival. Need emergency steroid plan, of course.
ACE inhibitors recommended to delay onset of cardiomyopathy.
Gene therapy difficult because of size of gene and problem of packing into vector!
Lots of trials. Givinostat approved by FDA – old drug for JIA! – HDAC inhibitor -conditional license in UK, early access programme in UK. Vamorolone is steroid, potent but less side effects eg bone/growth – now recommended by NICE (January 2025).
FDA has approved first gene therapy treatment – but have been fatalities and effect over time unclear.
Ataluren – oral – but EMA have withdrawn license due to poor efficacy.
[Zoya Al-Haswani – Heartlands Hospital]
=Heated humidified oxygen.
Turn machine on at least 15 minutes before use (else high flow COLD air, which is not good).
No battery pack, so can’t move for intubation!
Flow rate depends on size of baby – basically 2l/kg/min, or 12l/min from 6kg. Maximum flow is 20 if over 6kg, no scope for increase below that.
Cannulae should not occlude airways else excessive pressure – no more than 50%
Start at 40% FiO2. Increase if saturations below 94%, increase flow if persistent/worsening work of breathing or resp/heart rate.
Response usually within first few hours – if none then likely intubation required.
Hourly for first 4 hours. Blood gas at 2 hours.
Wean FiO2 in steps of 5% every hour.
Once under 30%, wean flow by 2l/min every 2 hours.
Reintroduce feeds if FiO2 below 40%.
Discontinue treatment once flow down to 4.
Classically a cold abscess, usually in the neck. Ingested soil?
Overlying skin can become discoloured, and ultimately fistulation may occur. Child is usually systemically well.
Blood tests are normal. Mantoux testing can be positive due to cross reaction with BCG. Fine needle aspiration may be most appropriate.
Drug treatment needs to be prolonged and recurrence is common.
Surgery can be tricky.