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Infographic: Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook
Dr Andrea Melluso et al
Material
Mini-slide deck: Clinical Practice Guideline for the Evaluation and Treatment of Children and Adolescents With Obesity
Dr Sarah E. Hampl et al
Kort PowerPoint presentation
Infographic: Clinical Practice Guideline for the Evaluation and Treatment of Children and Adolescents With Obesity
Dr Sarah E. Hampl et al
Material
Educational information about Bardet-Biedl syndrome (BBS), its association with obesity, characteristics and route to diagnosis
Dr Andrea Melluso et al
Material
Educational information about hyperphagia, including its characteristics and behaviours and its association with rare MC4R pathway diseases
Material
Educate HCPs on the clinical features of rare MC4R pathway diseases and the importance of genetic confirmation once these features have been identified
Material
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Har du några specifika frågor?
Om du inte hittar informationen som du letar efter, eller vill diskutera ett ämne mer i detalj, vänligen kontakta vårt team.Upptäck viktig information om sällsynta sjukdomar relaterade till MC4R-signalbanan i den senaste upplagan av The MC4R Journal nedan.
I detta nummer av The MC4R Journal presenteras fyra vetenskapliga artiklar som är relevanta för området sällsynta sjukdomar relaterade till MC4R-signalbanan. Varje artikel åtföljs av ett förklarande kort PowePoint- presentation, informationsgrafik och animation, som var och en kan nås via länkarna nedan.
Registrera dig till kommande nyhetsbrev.
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 våra evenemang för 2024
Delta i ett webbseminarium
Understanding hyperphagia: a root cause, recognition & burden
Under detta webbseminarium, sponsrad av Rhythm, utforskar professor Carel Le Roux och professor Martin Wabitsch vilken betydelse MC4R-signalbanan har i hyperfagi och tidigt debuterande, svår fetma, inklusive ett patientperspektiv på den verkliga bördan av att leva med hyperfagi.
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