Blog - INTERNET MÉDICA

Síndrome de Prader-Willi II (Prader-Willi Syndrome II)

Por Paulo Leite 26/05/2023

■ The Italian registry for patients with Prader-Willi syndrome

Marco Salvatore, Paola Torreri, Graziano Grugniet al

Orphanet J Rare Dis. 2023; 18: 28

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9930253/

■ Tratamento da síndrome de Prader-Willi através de by-pass gástrico: seguimento de 3 pacientes

A L Fernandes, S C Bettini, G M Clivatti et al

Brazilian Journal of Health Review 2023, vol 6 (1)

https://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/56883/41705

■ Bone health in adults with Prader-Willi syndrome: clinical recommendations based on a multicenter cohort study

Denise H van Abswoude, Karlijn Pellikaan, Anna G W Rosenberg, et al

J Clin Endocrinol Metab. 2023 Jan; 108(1): 59–84.

■ What endocrinologists can do to prevent cardiovascular complications in adults with Prader-Willi syndrome: lessons from a case series

Karlijn Pellikaan, Paula M. H. van Weijen, Anna G. W. Rosenberg, et al

Front Endocrinol (Lausanne) 2023; 14: 1145066

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10080071/

■ Prader-Willi syndrome: symptoms and topiramate response in light of genetics

Cécile Louveau, Mimi-Caterina Turtulici, Angèle Consoli,et al

Front Neurosci. 2023; 17: 1126970.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9939745/

■ Clinical trials in Prader-Willi syndrome: a review

Ranim Mahmoud, Virginia Kimonis, Merlin G. Butler

Int J Mol Sci. 2023 Feb; 24(3): 2150

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9916985/

■ Evaluation of autonomic nervous system dysfunction in childhood obesity and Prader-Willi syndrome

Lawrence P. Richer, Qiming Tan, Merlin G. Butler, et a

Int J Mol Sci. 2023 May; 24(9): 801

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179129/

■ A rare occurrence of non-classic congenital adrenal hypreplasia and type 1 diabetes mellitus in a girl with Prader-Willi syndrome: case report and review of the literature

Alessia Aureli, Sarah Bocchini, Michela Mariani, et al

Front Endocrinol (Lausanne) 2023; 14: 114831

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10130376/

■ Prader-Willi syndrome and weight gain control: from prevention to surgery – a narrative review

Valeria Calcaterra, Vittoria Carlotta Magenes, Francesca Destro, et al

Children (Basel) 2023 Mar; 10(3): 564

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10047227/

■ Prader-Willi syndrome and chromosome 15q11.2 BP1-BP2 region: a review

Merlin G. Butler

Int J Mol Sci. 2023 Mar; 24(5): 4271

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10002205/

■ The transition from pediatric to adult care in individuals with Prader-Willi syndrome

Christine Poitou, Anthony Holland, Charlotte Höybye, et a

Endocr Connect. 2023 Jan 1; 12(1): e220373

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9782397/

■ The diagnosis and genetic mechanisms of Prader-Willi syndrome: findings from a Moroccan population study

Mohamed Ahakoud, Hanae Daha Belghiti, Ayoub Nedbour, et al

Cureus. 2023 Apr; 15(4): e37866

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10202671/

■ Hyperphagia in Prader-Willi syndrome with obesity: From development to pharmacological treatment

Qaddra Fahada Ab. Rahman, Nurul Farhana Jufri, Asmah Hamid

Intractable Rare Dis Res. 2023 Feb; 12(1): 5–12

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976092/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9759176/

■ Establishing the contente validity of the Epworth Sleepiness Scale for children and adolescente in Prader-Willi syndrome

Vanessa Perez Patel, Albena Patroneva, Daniel G. Glaze, et al

J Clin Sleep Med. 2022 Feb 1; 18(2): 485–49

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8804999/

■ Hypogonadismm in adult males with Prader-Willi syndrome – clinical recommendations based on a Dutch cohort study, review of the literature and an International Expert Panel Discussion

Karlijn Pellikaan, Yassine Ben Brahim, Anna G. W. Rosenberg, et al

J Clin Med. 2021 Oct; 10(19): 4361.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8509256/

■ Hypogonadism in women with Prader-Willi syndrome – Clinical Recommendation on a Dutch cohort study, review of the literature and International Expert Panel Discussion

Karlijn Pellikaan, Yassine Ben Brahim, Anna G. W. Rosenberg, et al

J Clin Med. 2021 Dec; 10(24): 5781

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8707541/

■ A review of Prader-Willi syndrome

S Szabadi, Z Sila, J Dewey et al

Endocrines 2022, vol 3 (2): 329-348

https://www.mdpi.com/2673-396X/3/2/27

■ Fases nutricionales en síndrome de Prader-Willi

P Bravo J, D Pérez P, A C Cifuentes

Andes Pediatr 2022, vol 92 (3): 359-366

https://www.scielo.cl/scielo.php?script=sci_arttext&pid=S2452-60532021000300359&lng=es&nrm=iso

■ Management of Prader-Labhart-Willi syndrome in children in adults, with particular emphasis on the treatment with recombinant human growth hormone

M Drabik, A Lewinski, R Stawerska

Pediatr Endocrinol Diabetes Metab 2022, vol 28 (1): 64-74

https://www.termedia.pl/Management-of-Prader-Labhart-Willi-syndrome-in-children-and-in-adults-with-particular-emphasis-on-the-treatment-with-recombinant-human-growth-hormone,138,46241,0,1.html

■ Síndrome de Prader-Willi I (Prader-Willy Syndrome I)

Arquivo Blog Internet Médica – maio 2019

https://internetmedica.com.br/sindrome-de-prader-willi-online-prader-willi-syndrome/

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■ Médico Responsável: Dr Paulo Fernando Leite

CRMMG: 7026

Belo Horizonte/MG/Brasil

Email: pfleite1873@gmail.com

Abril 2023

Síndrome de Heyde II (Heyde´s Syndrome II)

Por Paulo Leite 23/05/2023

– A síndrome de Heyde é uma tríade de angiodisplasia colônica hemorrágica, estenose aórtica e coagulopatia adquirida. É mais comumente visto em idosos entre 60-80 anos de idade. A principal hipótese que explica a etiologia desta síndrome é a doença de von Willebrand adquirida, mas nem todos os estudos apóiam essa afirmação. A síndrome de Heyde é descrita em 1,7% dos pacientes com estenose aórtica importante. A indicação de intervenção valvar nesses pacientes segue as diretrizes atuais e, apesar de não existirem recomendações específicas, alguns centros defendem intervenção para redução de sangramento independente da presença de sintomas ou complicadores

■ Heyde´s syndrome: a systematic review of case reports

Bibek Saha, Eric Wien, Nicholas Fancher, et al

BMJ Open Gastroenterol. 2022; 9(1): e000866

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9086603/

■ Síndrome de Heyde: estratégias terapêuticas e seguimento de longo prazo

V E E Rosa, F Tarasoutchi

Arq Bras Cardiol 2021, vol 117 (3)

https://www.scielo.br/j/abc/a/yxGGvG5hZZJWyG7dvMj3Jxq/

■ Multimodal treatment and diangostic modalities in the setting of Heyde´s syndrome: a systematic review

Dawood Jamil, Hadrian Hoang-Vu Tran, Mafaz Mansoor et al

Cureus. 2022 Aug; 14(8): e28080.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9477546/

■ Aortic stenosis and Heyde´s syndrome: a comprehensive review

Dennisdhilak Lourdusamy, Vamsee Krishna Mupparaju, Navila Fahmida Sharif, Uzoma N Ibebuogu

World J Clin Cases. 2021 Sep 6; 9(25): 7319–7329

■ Heyde syndrome treated by conventional aoritc valve replacement

A M Farzesi, G Tripoli, N L K L de Campos et al

Braz J Cardiovasc Surg 2019, vol 34 (5)

https://old.scielo.br/scielo.php?script=sci_arttext&pid=S0102-76382019000500630

■ Aortic stenosis and Heyde´s syndrome: a comprehensive review

Dennisdhilak Lourdusamy, Vamsee Krishna Mupparaju, Navila Fahmida Sharif, Uzoma N Ibebuogu

World J Clin Cases. 2021 Sep 6; 9(25): 7319–7329

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8464459/

■ Heyde syndrome: prevalence and outcomes in patients undergoing transcatheter aortic valve implantation

Lara Waldschmidt, Andreas Drolz, Paula Heimburg, et al

Clin Res Cardiol. 2021; 110(12): 1939–1946

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8639542/

■ New onset Heyde´s syndrome presenting after total aortic valve replacement

Eric Omar Then, Carmine Catalano, Tagore Sunkara, Vinaya Gaduputi

Oxf Med Case Reports. 2019 Feb; 2019(2): omy134

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380530/

■ Recurrent gastrointestinal bleeding in a patient with severe aortic valve stenosis: a diagnosis of Heyde´s syndrome

Adham E Obeidat, Jean Kim

Cureus. 2021 Jun; 13(6): e1544

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8255048/

■ Recurrent gastrointestinal bleeding in a patient with Heyde syndrome with elevated fator VIII levesl: a case report

Omar Al-Radaideh, Iyad Farouji, Hossam Abed, Hamid Shaaban

Int J Crit Illn Inj Sci. 2021 Oct-Dec; 11(4): 253–256

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8725811/

■ Medical management of Heyde syndrome

Samridhi Sinha, Daniel Castro, Shams Shakil

Cureus. 2021 Jan; 13(1): e12551

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7863051/

■ Síndrome de Heyde I (Heyde´s Syndrome I)

Arquivos Blog Internet Médica – fevereiro 2018

https://internetmedica.com.br/sindrome-de-heyde-online-heydes-syndrome/