Kennisbank
Blijf op de hoogte van de laatste educatiematerialen over melanocortine-4 receptor (MC4R) pathway ziekten.
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Infographic: Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook
Dr Andrea Melluso et al
Infographic
Mini-slide deck: Clinical Practice Guideline for the Evaluation and Treatment of Children and Adolescents With Obesity
Dr Sarah E. Hampl et al
Mini-slide deck
Infographic: Clinical Practice Guideline for the Evaluation and Treatment of Children and Adolescents With Obesity
Dr Sarah E. Hampl et al
Infographic
Educational information about Bardet-Biedl syndrome (BBS), its association with obesity, characteristics and route to diagnosis
Dr Andrea Melluso et al
Infographic
Educational information about hyperphagia, including its characteristics and behaviours and its association with rare MC4R pathway diseases
Handout
Educate HCPs on the clinical features of rare MC4R pathway diseases and the importance of genetic confirmation once these features have been identified
Handout
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Heeft u een specifieke vraag?
Niet gevonden wat u zoekt of wilt u een onderwerp in meer detail bespreken? Neem contact op met ons team.Ontdek hier belangrijke informatie over MC4R pathway gerelateerde ziekten in de laatste editie van de MC4R Journal
Deze editie van de MC4R Journal belicht vier wetenschappelijke artikelen, die relevant zijn op het gebied van zeldzame MC4R pathway ziekten. Elk artikel is ondersteund met een verklarende mini-slide deck, een infographic en een animatie, die allemaal toegankelijk zijn via onderstaande links.
Meldt u zich aan om de volgende edities automatisch te ontvangen.
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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Bekijk onze evenementen in 2024
On-demand webinar
Understanding hyperphagia: a root cause, recognition & burden
Tijdens dit door Rhythm gesponsorde webinar onderzoeken professor Carel Le Roux en professor Martin Wabitsch de rol van de MC4R-pathway bij hyperfagie en ernstige, early-onset obesitas. En een patiënt vertelt over leven met hyperfagie.[ENG]
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