Month: October 2014

EAPS 2014 Day 4 – Plenary Session – Inflammation

Medical science has amazing frontiers!

Prof Marco Gattorno delivered a brain exploding tour of “Inflammasome-opathies” and “Interferonopathies”. Paediatric rheumatologists well recognise Gattorno for his work with PRINTO and numerous other research enterprises, and this mixed audience seemed spellbound by the pace, diversity, and uniqueness of the pathologies he presented, which was essentially a brief (incomplete) review of the monogenic autoinflammatory disorders. Several new disorders have been named in the past few years, and another (SAVI) just in the past few months.

His talk covered seven clinical patterns of presentation, and briefly outlined exemplary cases:

Gattorno’s take on one aspect can be found in his article “The central role of blockade of IL-1 blockade in the treatment of monogenic and multifactorial autoinflammatory diseases”

I am just in the process of trying to make sense of his talk, and hope to post my summary shortly.

EAPS 2014 Day 4 – Gastroenterology Session

Prof Marc Benninga gave a very entertaining and somewhat irreverant review of the treatment of functional constipation. The messages were pretty much in accordance with our current practice in WA. The ESPGHAN guidelines (upon which his talk – but without the entertaining slides) are available here.
An intersting point I took away from his talk is that for acute disimpaction, you get just as much success with either enema, or with polyethylene glycol bowel washout – the only difference being that with enema disimpaction, there is immediate improvement in the faecal incontinence often associated with functional constipation.

There were a couple of presentations to follow his talk: One by Natasha Nasser from Sydney (it’s been a day for Australians – I’ve seen a couple of posters too) regarding a population linkage study demonstrating an association between prematurity, mode of delivery (CS), and breast feeding and risk for acute gastroenteritis. A study presented by Michelle Jansen from the Erasmus Medical Centre in Rotterdam showed that duration of breastfeeding, and timing of introduction of gluten, were not associated with a positive anti-TTG andtibody test at 6 years of age, suggesting duration of breastfeeding beyond 6 months of age was not protective against developing *subclinical* coeliac disease, and timing of introduction of gluten also makes no difference.

EAPS 2014 – Day 4 – Paediatric Education

Yesterday, Dr Livinia Da Dalt from Padua, described their model for inculcating global child health concepts in their paediatric training program by enabling selected trainees to work for 6 months in developing nations across Africa.

This made me reflect on the situation of mandatory regional/remote training in Australia – something I feel ambivalent about (the mandatoriness, not the actual benefits of regional/remote training). Comparison with European trainees having an option to train in Africa is not useful.

This was complemented by a talk by Dr Hazen Ham (VP of the American Board of Pediatrics Foundation) today, giving a brief summary of the history and current mission of the Global Pediatric Education Consortium (GPEC) www.globalpediatrics.org . GPEC has developed a 700+ page paediatric curriculum for people to adapt and use how they wish, and so far it seems several South American Countries, Japan, and perhaps some African nations have adopted this curriculum. It has also been used to successfully lobby government for resources to improve paediatric training in Brazil (lengthening their training program from 2y to 3y !). Our own Kevin Forsyth (former RACP Dean) is apparently assisting GPEC with developing the educational business model to extend the scope of GPEC’s works into providing educational resources online . This will be interesting to see in years to come. Funding for GPEC seems to come predominantly from the American Board of Paediatrics. The RACP is not an affiliate member of GPEC.

Prof Jonas Norquist, an educational specialist from the Karolinska Institute gave a talk entitled “How to Make a Good Specialist”. He had wonderful style, and was an engaging speaker, but his message was only pithy like this:
1. Have detailed learning objectives.
2. Provide as much formative feedback as possible.
3. Have physical space in which to give feedback

Prof Nordquist has physical spaces for education as a little hobby, I suspect. Interesting to note this idea echoed in other educational forums in Perth (AISWA “Briefing the Board” 2014). The Karolinska Institute has exchange programs

EAPS 2014 – Day 3 Afternoon Sessions – Wheeze

As a part of the ongoing and complicated process of trying to appreciate and give meaning to the various ways wheezing can develop across the life cycle, Louis Bont and team have published their research into the association between RSV and susceptibility to all cause wheeze. Giving palivizumab to all “late” (32-36 wk gestation) preterm infants resulted in prevention of 61% of all causes of wheeze in infants. In his talk indicated that his cohort of patients is 6y old and they are collecting parameters which he imagines will be published in another few years.
In his talk he acknowledged that there are likely to be a number of pathways multiple asthma phenotypes (or even “endotypes”). Fortunately, the discussion remained very contained, but in my mind I continue to struggle to properly organise the relationship between wheezing illnesses.

EAPS 2014 Day 3 – Plenary talk on Neuroembryology and Autism

Perhaps not an immediately clinically relevant talk, but the concepts may well ultimately provide meaning (and perhaps interventions) for families affected by autism.

Prof Jack Price of King’s College London described his collaboration with others in the exploratoration of how neuronal cells from children with autism (they make pluripotent stem cells from hair samples from affected children!), differ; morphologically, synaptically, and epigenetically from neuronal cells derived from healthy (neurotypical) controls. Amazing technology!
Although genetic abnormalities can be found in c20% of autistic children (the SHANK3 gene seems to be popular) , his laboratory has found that neuronal cells grown from affected children without a defined genetic mutation also show similar morphological changes to those of the autistic children with a known genetic defect. The implication is that autism might be a cell phenotype associated with the disease, which may have various underlying genetic or epigenetic (or other) causes.

EAPS Day 3 – Plenary on Epigenetics of Obesity

Not a breakthrough talk, but a nice summary of the last 8 years of research demonstrating the existing known epigenetic effects on the unborn fetus of maternal diet during gestation using both animal and human study examples. The talk was given by Prof Mark Hanson.
His concluding remarks included:
“In animalsthere is proof of principle of benefit of dietary interventions during pregnancy”
(suprisingly not yet for humans)
and
“Epigenetic markers measurable in early life may be useful biomarkers of later risk, and possible indicators of efficacy of intervention”
We have to educate families who come to our clinics.

The talk also provided a useful reference to an article summarizing epigenetic mechanisms by SK Zaidi 2010

EAPS 2014 Day 2 – Selected Posters

There are many poster presentations to view, and all are available online. The organisers have selected some to be presented orally, grouped with similarly themed sessions.

It was interesting to hear about the application of the “Social Capital Scale” (Looman 2006) in examining the association between SES/social capital and measures of maternal mental health as presented by Dr John Pascoe from the USA. I’ve sometimes wondered how we subjectively assess this concept in some of the families we care for, and whether we could do better.

Nice poster by Dr Marie Monaghan about effective paediatric cannulation teaching, which could be adapted here in WA.

Dr Guillermo Mendes from the USA looked at US national disease surveillance data to look at children who had recieved an autism diagnosis, but were subsequently determined NOT to have autism, and found that those children who (retrospectively) were initially incorrectly diagnosed were more likely to be from minority, low income backgrounds, and more likely to have a history of hearing problems. There was some brief discussion about whether DSM V criteria would have an impact on the number of diagnoses of children who are on the less severe end of the spectrum. Just interesting…

EAPS 2014 Conference Chaser day 2 – Plenary Session on Global Child Health

*sigh*
These topics do make me feel inadequate. I am a first world health practitioner with first world problems. I’m not doing enough personally to contribute internationally, as these two keynote speakers, Joanne Liu and Anthony Costello.

Joanne Liu gave a broad and gritty overview of the effects of conflict, both direct (through burns and shrapnel injuries) and indirect (through preventable diseases, missed vaccination, malnutrition, mental ill-health and sexual violence). She highlighted the ongoing issues Democratic Republic of Congo, Somalia and Sudan in addition to the current humanitarian crisis in Syria.
Her main take home message to us in the developed woprld: “Make us temperature stable vaccines so we don’t need the transport cold chain”!

Anthony Costello talked about reducing the global burden of disease in children by using an “honest broker” approach – based on theory in “The Honest Broker” by Pielke.
He went through a nice overview of the classic international child health issues as summarized in UNICEF data, and then described in a little more detail his recent collaboration in the development of community action cycles (one summary of this concept here) targetting expectant mothers in developing communites to improve perinatal neonatal and maternal health.
He ended with a brief, slightly cycnical comment regarding the current Ebola epidemic (which he felt was surmountable), but then, a more emphatic comment regarding Climate Change: “Ecological sustainability is the ultimate challenge and will make Ebola look llike a tea party”, or at least, something to that effect…

What am I going to do in WA?
1. Talk to my children about these issues
2. Think about how I can make a better contribution to local (remote WA) areas of need.
3. Talk with colleagues about how the RACP can develop a policy about how Australian children may be affected by climate change. Our children need us to do more about this, I think. But it needs to be on a co-ordinated international scale.

Now I gonna eat more fatty churros (actually the conference food is ok…)

EAPS 2014 Conference Chaser Day 1

The first plenary talk was not a game changer for us general paediatricians, but it definitely deepened my appreciation of the complexity immunity. Yes, I now feel like I know even less about our immune systems than before – can it can any more complicated?)

The satellite events have finished and this evening at the official opening Professor Jean-Laurent Casanova (from Rockerfeller University, but with research laboratories in both Paris and New York – link here for a better outline and bio) outlined his understanding of the complex genetic determinants of individuals’ vulnerability to infectious disease.
He began with an interesting historical overview of our scientific theoretical approach to children with fever, passsing from Pasteur and germ theory through to his own current work, but resonating with the postulate of Archibald Garrod:

“It is, of neccesity, no easy matter to distinguish between immunity which is innate, and that which is acquired”

Beginning from an awareness of the Mendelian basis for some serious genetic vulnertability to infection (eg agammaglobulinaemia as an AR, fully penetrant primary ImmDef), our current understanding as informed by Prof Casanova’s work and his collaborators, has demonstrated that single gene deletions can give rise to very particular immunophenotypes, with very particular disease susceptibilities eg UNC-93B deletion causing TLR dysfunction in oligodendrocytes makes these cells vulnerable to HSV, and this particular immunophenotype (constituted by various gene defects) accountsd for at least 25% of Herpes Simplex Encephalitis in infants and children.

Prof Casanova also described unpublished research regarding a unique gene deletion leading to particular vulnerability to serious influenza infection.

His concluding statement (stated as if it was a belief) was; “each child is unique. Every child has a singular disease.”

He postulated the ramifications of these realisations of cellular, molecular and genetic bases of infectious disease as being an improvement in our ability to prognosticate and counsel families, and perhaps to generate cytokine specific interventions.

These seemed like big ideas to me, and it seems as if there is a lot more work to be done to detail our understanding of the many different ways in which our immune systems can be vulnerable.