Episodi
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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 isnât individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)
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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 isnât individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)
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Episodi mancanti?
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Genetic imprinting is a normal process that usually happens in a small number of genes where one copy of the gene is always âsilencedâ or not expressed. An imprinting âdisorderâ is where thereâs an issue with this process - either with how the gene is silenced or the right copy is silenced but thereâs a problem with the copy that gets âexpressedâ.
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 isnât individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)
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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 â up to 40-50%. Definitive management is operative, once the baby is stabilised.
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(This isnât individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)
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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!
Links and resources:
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(This isnât individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)
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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!
Links and resources:
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Our email is [email protected]
Make sure you hit SUBSCRIBE/FOLLOW so you donât miss any episodes and RATE to help other people find us!
(This isnât individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)
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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.
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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 isnât individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)
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MCAD deficiency is a fatty acid oxidation disorder. It is a hereditary disease that is caused by a missing enzyme needed to convert fat into energy. Children with MCAD deficiency therefore cannot fast for very long without developing hypoglycaemia, which can cause brain damage or even death. This is because they cannot use fat and hence ketones as an alternative energy source as the glucose available to them runs low.
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(This isnât individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)
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Von Willebrand disease (VWD) is a hereditary quantitative deficiency or functional abnormality of von Willebrand factor (VWF), which causes platelet dysfunction. Bleeding tendency is usually mild in the most common types, but it can be severe and present with factor VIII deficiency as well as platelet dysfunction in the rarer subtypes. It is diagnosed based on testing von willebrand factor antigen levels which is low in most subtypes, VWF activity which is low in most subtypes and VWF multimer distribution which is abnormal in a small number of the subtypes.
Treatment depends on the degree of bleeding. Mild mucosal bleeding can often be managed with tranexamic acid alone to help stabilise the clots that are present. Desmopressin might be used in more significant bleeding or perioperatively. Occasionally von willebrand factor concentrates might need to be given.
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(This isnât individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)
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In this episode, we take the podcast in a slightly different direction by discussing a non-clinical topic!
The news is out, Anne has changed specialty! But what has she changed to? Why did she do it? What is a day in the life of her new specialty like? What's next? Tune in now to hear the answers to all these questions and more!
More importantly, we discuss what's important when choosing a specialty to pursue - so whether you're undecided on what specialty you'd like to pursue, or you are contemplating changing specialty/career pathway, this is the episode for you!
Links and resources:
Follow us on Instagram @yourekiddingrightdoctors
Our email is [email protected]
Make sure you hit SUBSCRIBE/FOLLOW so you donât miss any episodes and RATE to help other people find us!
(This isnât individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)
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Cleft lip and palate are congenital anomalies that can occur together or separately. In cleft lip, the affected lip is always the top lip, and these entities can occur together or just one or the other. Management involves surgery, but in this episode we cover an overview of the presentation and the roles of different multidisciplinary team members.
Links and resources:
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Make sure you hit SUBSCRIBE/FOLLOW so you donât miss any episodes and RATE to help other people find us!
(This isnât individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)
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On this week's episode, we feature Dr. Laura Tate and Dr. Stormie De Groot in our first podcast takeover! Tune in for a truly enlightening discussion between Laura, Stormie and their special guest Dr. Karen Kiang, as they explore the contribution medicine makes to climate change, as well as the things we can do to help alter this course.
This podcast was produced as part of Green Week at The Royal Children's Hospital, Melbourne.
Links:
If you'd like to learn more about this topic, email: [email protected]
Doctors for the Environment Australia: https://www.dea.org.au
Resources:
UNICEF 2021 report - climate crisis is a child rights crisis Great statistics on the health impacts of climate change on children
https://www.unicef.org/reports/climate-crisis-child-rights-crisisHealthcare Without Harm Healthcare's climate footprint
https://noharm-global.org/sites/default/files/documents-files/5961/HealthCaresClimateFootprint_092319.pdf -
Early onset sepsis has different definitions across regions, with the definition we use being sepsis occurring at
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Febrile neutropaenia is an emergency situation that can occur in patients with cancer. It is when they have very low levels of the white blood cell neutrophils, plus a fever. The main concern when these two things go together is that the person can easily and quickly develop sepsis.
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(This isnât individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)
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Fever is a common feature in paediatric presentations to health services. Because it's so common, it's vital to have an approach that will ensure that you have your bases covered. This episode is one way in which you can assess the child with a fever, as well as investigations to consider.
Links and resources:
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Our email is [email protected]
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(This isnât individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)
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Medulloblastomas are the most common malignant brain tumour in children. They arise from embryonal neuroepithelial cells and are usually located in the cerebellum, which can cause cerebellar signs. Due to its location, the tumour can also compress the 4th ventricle, causing hydrocephalus. Definitive diagnosis is based on histology from surgical resection of the tumour, after which point children will also undergo radiotherapy and chemotherapy.
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Our email is [email protected]
Make sure you hit SUBSCRIBE/FOLLOW so you donât miss any episodes and RATE to help other people find us!
(This isnât individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)
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