IMPE Abstracts

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The medical world has been undertreating youth onset type 2 diabetes for decades. With the number of youths affected by this devastating disease increasing worldwide there is no room in modern medicine for clinical inertia. Intensified therapy to treat-to-target rather than treat-to-failure is best practice. Clinicians caring for youth affected by type 2 diabetes need to be prepared to muster the courage and ask for early access to off-label medications....

Over the last two decades, there has been a major expansion in agents targeting contributors to metabolic dysfunction in type 2 diabetes. Modern pharmacologic agents have allowed clinicians to move beyond reduction in glycemia as the primary treatment target and to begin to select agents based on more individualized aspects of dysfunction unique to each patient. The potency of this approach is demonstrated by the changing outcomes landscape for adult individuals with type 2 di...

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RASopathies are a group of phenotypically overlapping syndromes caused by mutations that encode molecules of the Ras/MAPK signaling pathway. These disorders include: 1) Noonan syndrome caused by mutations in PTPN11, SOS1, RAF1, KRAS, BRAF and NRAS; 2) Noonan syndrome with multiple lentigines (NSML) caused by mutations in PTPN11, RAF1 and BRAF; 3) Costello syndrome caused by oncogenic mutations in HRAS; 4) cardio-facio-cutaneous (CFC) syndrome caused ...

The term “mitochondrial disease” (MD) encompasses well over 300 monogenic disorders. MD genes encode either components of the oxidative phosphorylation (OXPHOS) system or cause a secondary impact on OXPHOS. MD can be caused by pathogenic variants in any of the 37 mitochondrial DNA (mtDNA) genes, which explain up to 70% of adult-onset MD. In paediatric-onset MD, the modes of inheritance appear to be ~30% mtDNA, ~50% autosomal recessive with the remainder X-linked or...