INNHOLDSSENTER
Hold deg oppdatert med nytt opplæringsmateriell om sykdommer knyttet til melanokortin-4-reseptorbanen (MC4R-banen).
Innholdsbibliotek
Bruk knappene nedenfor til å filtrere innhold basert på interessene dine.
Infographic: Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook
Dr Andrea Melluso et al
Utdelingsmateriell
Infographic: Clinical Practice Guideline for the Evaluation and Treatment of Children and Adolescents With Obesity
Dr Sarah E. Hampl et al
Utdelingsmateriell
Educational information about Bardet-Biedl syndrome (BBS), its association with obesity, characteristics and route to diagnosis
Dr Andrea Melluso et al
Utdelingsmateriell
Educational information about hyperphagia, including its characteristics and behaviours and its association with rare MC4R pathway diseases
Utdelingsmateriell
Educate HCPs on the clinical features of rare MC4R pathway diseases and the importance of genetic confirmation once these features have been identified
Utdelingsmateriell
Educate HCPs on rare MC4R pathway diseases and how they can lead to hyperphagia and early-onset, severe obesity
Utdelingsmateriell
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Har du et spesifikt spørsmål?
Hvis du ikke finner det du leter etter, eller ønsker å diskutere et emne i mer detalj, kan du ta kontakt med teamet vårt.Finn viktig informasjon om sykdommer knyttet til MC4R-banen i den nyeste utgaven av The MC4R Journal nedenfor.
I denne utgaven av The MC4R Journal finner du fire vitenskapelige artikler som omhandler sjeldne sykdommer knyttet til MC4R-banen. Hver artikkel ledsages av en forklarende lysbildefremvisning, infografikk og animasjoner tilgjengelig via lenkene nedenfor.
Registrer deg for å få fremtidige utgaver av dette nyhetsbrevet direkte tilsendt.
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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Sjekk ut våre hendelser for 2024
Behovsbasert webinar
Understanding hyperphagia: a root cause, recognition & burden
På dette Rhythm-sponsede webinaret utforsker professor Carel Le Roux og professor Martin Wabitsch rollen til MC4R-banen ved hyperfagi og tidlig debut av alvorlig fedme, inkludert en pasients perspektiv på den reelle byrden av å leve med hyperfagi.
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