AKTUELT INDHOLD
Hold dig opdateret, når vi udsender nye undervisningsmaterialer om melanocortin-4-receptor (MC4R)-pathway-sygdomme.
Indholdsbibliotek
Brug knapperne nedenfor til at søge på materiale alt efter dine interesser.
Educate HCPs on rare MC4R pathway diseases and how they can lead to hyperphagia and early-onset, severe obesity
Skriftligt materiale
Educational information about hyperphagia, including its characteristics and behaviours and its association with rare MC4R pathway diseases
Skriftligt materiale
Educate HCPs on the clinical features of rare MC4R pathway diseases and the importance of genetic confirmation once these features have been identified
Skriftligt materiale
Educational information about LEPR and POMC deficiency, including what it is, key characteristics/clinical features in patients with these conditions, prevalence and route to diagnosis
Skriftligt materiale
Educational information about Bardet-Biedl syndrome (BBS), its association with obesity, characteristics and route to diagnosis
Dr Andrea Melluso et al
Skriftligt materiale
Infographic: Long-term outcomes of bariatric surgery in patients with bi-allelic mutations in the POMC, LEPR, and MC4R genes
Prof Christine Poitou et al
Skriftligt materiale
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Har du et specifikt spørgsmål?
Hvis du ikke kan finde, det du leder efter, eller ønsker at drøfte et emne mere detaljeret, så tag kontakt til vores team.Find vigtige oplysninger inden for området MC4R-pathway-sygdomme i den seneste udgave af MC4R-journalen nedenfor.
I denne udgave af MC4R-journalen sætter vi fokus på fire videnskabelige artikler inden for området MC4R-pathway-sygdomme. Der følger en mini-slideserie, infografik og animering med hver artikel, som du kan tilgå via nedenstående links.
Tilmeld dig, så du modtager fremtidige udgaver af dette nyhedsbrev direkte.
MC4R Journal
Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study
The CARE-BBS study reports on the caregiver burden associated with hyperphagia and obesity among patients with BBS. A multi-country survey was used to quantify the caregiver burden, which was found to be multifaceted and complex.
Forsythe E, et al. Orphanet J Rare Dis. 2023;18(1):181.
MC4R Journal
Burden of hyperphagia and obesity in Bardet-Biedl syndrome: a multicountry survey
Research into the impact of hyperphagia on the lives of caregivers and patients with BBS has been limited, until now. The CARE-BBS study launched a multi-country survey to quantify the physical and emotional burden associated with hyperphagia in BBS, which was described amongst others as "broad" and "negative".
Forsythe E, et al. Orphanet J Rare Dis. 2023;18(1):182.
MC4R Journal
Clinical and molecular diagnosis of Bardet-Biedl syndrome
This article explores the extensive clinical heterogeneity and main features of BBS. It aims to define the role of the different BBS genes and discuss various strategies for the clinical and molecular diagnosis of BBS.
Solarat C, Valverde D. Methods in Cell Biology. 2023;176:125–137.
MC4R Journal
Genetic contributors to obesity
The current research landscape of obesity caused by genetic impairments is summarised in this article. There is a focus on the known prevalence and hidden burden of obesity caused by genetic impairments, genetic drivers of appetite regulation, the importance of genetic testing and clinical features of monogenic and syndromic obesity.
Sivasubramanian R, Malhotra S. Gastroenterol Clin N Am. 2023;52:323–332.
MC4R Journal
Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study
The CARE-BBS study reports on the caregiver burden associated with hyperphagia and obesity among patients with BBS. A multi-country survey was used to quantify the caregiver burden, which was found to be multifaceted and complex.
Forsythe E, et al. Orphanet J Rare Dis. 2023;18(1):181.
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Se vores begivenheder for 2024
On-demand-webinar
Understanding hyperphagia: a root cause, recognition & burden
I dette Rhythm-sponsorerede webinar går professor Carel Le Roux og professor Martin Wabitsch mere i dybden om den rolle MC4R-pathwayen spiller i hyperfagi og svær adipositas med tidlig debut, herunder et patientperspektiv om de problemstillinger man er oppe imod, når man lever med hyperfagi.
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