PLATAFORMA DE CONTENIDOS
Siga las últimas actualizaciones de los nuevos materiales didácticos acerca de las enfermedades de la vía del receptor 4 de melanocortina (MC4R).
Biblioteca de contenidos
Use los botones siguientes para filtrar los materiales en función de sus intereses.
Educate HCPs on rare MC4R pathway diseases and how they can lead to hyperphagia and early-onset, severe obesity
Folletos informativos
Educational information about hyperphagia, including its characteristics and behaviours and its association with rare MC4R pathway diseases
Folletos informativos
Educate HCPs on the clinical features of rare MC4R pathway diseases and the importance of genetic confirmation once these features have been identified
Folletos informativos
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
Folletos informativos
Educational information about Bardet-Biedl syndrome (BBS), its association with obesity, characteristics and route to diagnosis
Dr Andrea Melluso et al
Folletos informativos
Infographic: Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook
Dr Andrea Melluso et al
Folletos informativos
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¿Tiene alguna pregunta específica?
Si no encuentra lo que está buscando o desea comentar un tema en mayor detalle, póngase en contacto con nuestro equipo.Descubra a continuación información importante sobre las enfermedades de la vía del MC4R en la última edición de la revista The MC4R Journal.
En esta edición de MC4R Journal se destacan cuatro artículos científicos de relevancia en el campo de las enfermedades raras de la vía del MC4R. Cada uno de ellos va acompañado de un conjunto de diapositivas explicativas, una infografía y un vídeo a los que puede acceder a través de los enlaces que se muestran a continuación.
Regístrese para recibir directamente las próximas ediciones de este boletín informativo.
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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Compruebe nuestras actividades de 2024
Ciberseminario a la carta
Understanding hyperphagia: a root cause, recognition & burden
Durante este ciberseminario patrocinado por Rhythm, el Dr. Carel Le Roux y el Dr. Martin Wabitsch analizan el papel que desempeña la vía del MC4R en la hiperfagia y la obesidad grave de inicio precoz e incluye la perspectiva del paciente en la carga que tiene la hiperfagia en la vida cotidiana.
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