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Infographic: Genetic contributors to obesity
Sivasubramanian R, Malhotra S
Handout
Dr Ashley Shoemaker and Dr Ilene Fennoy explain the clinical presentation of the cardinal symptoms of rare MC4R pathway diseases, hyperphagia and early-onset severe obesity. Including key signs, symptoms and cues to look for during a consultation.
Dr Ashley Shoemaker
Dr Ilene Fennoy
Video
Genetic testing in melanocortin-4 receptor pathway diseases
Prof. Carel Le Roux
Video
Dr Mogas discusses the clinical criteria used when suspecting rare MC4R pathway diseases in this 'What the experts have to say' video series
Dr Eduard Mogas
Video
Prof Ramon discusses the current collaborations taking place in Spain through working groups to increase understanding of rare MC4R pathway diseases in this 'What the experts have to say' video series
Dr Marta Ramon
Video
Dr Cetiner discusses educating people on on Bardet-Biedl syndrome, including challenges in the care of patients with BBS, and obesity and fatty liver disease as frequent manifestations of BBS in this 'What the experts have to say' video series
Dr. Metin Cetiner, MD, PhD
Video
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Domande specifiche?
Se non trovi quello di cui hai bisogno o se desideri approfondire un particolare argomento, puoi contattare il nostro team.Leggi di seguito l'ultima edizione del The MC4R Journal per scoprire informazioni importanti nel campo delle malattie associate al pathway del MC4R.
Questa edizione del The MC4R Journal è dedicata a quattro articoli scientifici che approfondiscono le malattie rare associate al pathway del MC4R. Ogni articolo è accompagnato da una sezione introduttiva, infografiche e animazioni, tutte disponibili tramite i link sottostanti.
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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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