You're Kidding, Right?

Oligoarticular JIA is the most common subtype of juvenile arthritis. Children with oligo have 4 or fewer joints involved in the first 6 months of disease. The biggest complication that requires monitoring for is chronic uveitis which is asymptomatic but ultimately vision threatening if not controlled. 

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(This isn’t individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)

Summary:

Exomphalos, or omphalocoele, is a congenital condition where a baby's abdominal organs develop outside the body through the umbilical cord, affecting about 1 in 5000 births, with higher rates in multiple pregnancies (e.g. twins, triplets). It forms between the 6th-10th week of gestation and can be classified as minor or major based on the size of the defect. The condition is sometimes associated with genetic syndromes and other anomalies, necessitating thorough prenatal screening and multidisciplinary care. Tune in to hear more about this condition and an overview of how it is managed.

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(This isn’t individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)

Genetic imprinting is a normal process that usually happens in a small number of genes where one copy of the gene is always “silenced” or not expressed. An imprinting “disorder” is where there’s an issue with this process - either with how the gene is silenced or the right copy is silenced but there’s a problem with the copy that gets “expressed”.  

Today's episode is a doozy! This is one for all our friend's studying for their specialty exams (or keen medical students/students of other superhuman knowledge degrees!).

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(This isn’t individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)

Summary: 

Congenital diaphragmatic hernia (CDH) is a condition where abdominal contents herniate into the thoracic cavity via a defect in the diaphragm, causing underdevelopment of the lungs and altered pulmonary vascular development. Although uncommon, it can cause significant morbidity during the neonatal period, and may continue to do so in the long term. Mortality is significant across the globe – up to 40-50%. Definitive management is operative, once the baby is stabilised.

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(This isn’t individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)

There has been a recent move to prescribe an inhaled corticosteroid for ALL adolescents with asthma. In today's episode we will go through the new SMART guidelines for adolescent asthma. 

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After a decent hiatus we're back with a new episode! Meckel diverticulum is the most common congenital abnormality of the gastrointestinal tract, found in the small intestine. The majority of patients are never diagnosed, as it is both often completely asymptomatic, and difficult to spot on the usual imaging modalities. 

The symptoms of a Meckel's depend on the complication it presents with - and there are a range of these from bleeding to bowel obstruction. 

Listen in to learn about the way these elusive diverticula present if they ever reveal themselves, how to manage it and more!

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(This isn’t individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)

Dermoid cysts are a common occurrence and a common spot diagnosis that you'll be quizzed on in clinic! Always present at birth, but often picked up later, most cutaneous dermoid cysts are harmless, but occasionally, they may grow over time and develop complications. Tune in to learn how to tell them apart from other cutaneous lesions, their management and more!

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(This isn’t individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)

Noonan syndrome is one of the most common genetic conditions we see in paeds. It is most typically characterised by certain facial features, short stature, congenital heart defects and developmental delay. Noonan syndrome is caused by a mutation in a single gene, however there are quite a few possible genes that can be responsible. Vision and hearing loss, developmental delay, development of hypertrophic cardiomyopathy and the increased risk of leukaemia are important complications to monitor for patients with Noonans.

Juvenile dermatomyositis, or JDM is a rare autoimmune myopathy.

In their first episode back after sitting specialty exams, Freya and Anne use a case to help explain what JDM is, as well as presentation, treatment and diagnosis (plus a couple of tangents about their day to day work as doctors!). 

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(This isn’t individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)