• R. Prof. Rodolpho Paulo Rocco, 255 - Ilha do Fundão, Rio de Janeiro - RJ
  • (21) 3938-2112 Atendimento telefônico: segunda e quarta-feira de 08:30h às 16:00h
  • ceparmpaf@gmail.com
  • Instagram: @ceparmpaf

Livros

Raízes da História da PAF. Uma Doença entre Dois Mundos. Os primórdios da luta contra a Polineuropatia Amiloidótica Familiar no Brasil e em Portugal. Eduardo Bueno e Márcia Waddington Cruz. Editora Planmark. São Paulo, primeira edição, 2018.

Teses e dissertações

Dissertação de Mestrado de Mário André da Cunha Saporta intitulada: Estimativa da penetrância e análise de haplótipos da mutação Val30Met em famílias brasileiras com polineuropatia amiloidótica familiar (PAF) tipo I. Defendida em 05 de Julho de 2007. Universidade Federal do Rio de Janeiro. Pós – Graduação em Clínica Médica, Faculdade de Medicina.

Dissertação de Mestrado de Shenia Sbardellotto Colnaghi Novis intitulada: Aplicação das Redes Neurais Artificiais na criação de um escore de gravidade para pacientes com Polineuropatia Amiloidótica Familiar. Defendida em 20 de agosto de 2014. Pós – Graduação em Clínica Médica, Universidade Federal do Rio de Janeiro, Faculdade de Medicina.

Dissertação de Mestrado de Renata Vasconcelos Barbosa da Silva intitulada: Análise da Evolução Clínica dos Pacientes com Polineuropatia Amiloidótica Familiar (PAF) ligada a transtiretna tratados com tafamidis ou transplante hepático, comparados com a evolução natural da doença. Defendida em 2 de fevereiro de 2015. Universidade Federal do Rio de Janeiro. Pós – Graduação em Clínica Médica, Faculdade de Medicina.

Dissertação de Mestrado de Amanda Cardoso Berensztejn intitulada: Aspectos Ecocardiográficos em Pacientes com Polineuropatia Amiloidótica Familiar com a Mutação Val30Met: Padrão da Função Diastólica. Universidade Federal do Rio de Janeiro e Instituto Edson Saad. Pós – Graduação em Clínica Médica e Cardiologia, Faculdade de Medicina. (https://www.revneuropsiq.com.br/rbnp/article
/view/35/23/
)

Tese de Doutorado de Márcia Cavalcanti Queiroz intitulada: Frequency of cardiovascular involvement in transthyretin-related amyloidosis in brazilian patients. Universidade Federal do Rio de Janeiro e Instituto Edson Saad. Pós – Graduação em Clínica Médica e Cardiologia, Faculdade de Medicina. (https://www.scielo.br/scielo.php?pid=S0066-782X2015005050112&script=sci_arttext)

Publicações nos últimos 05 anos (2015-2020)

2015

Liver Transplantation for Hereditary Transthyretin Amyloidosis: After 20 Years Still the Best Therapeutic Alternative? (https://www.ncbi.nlm.nih.gov/pubmed/26308415)

Phase 2, Open-label extension study of patisiran, an investigational siRNA agent for familial amyloid polyneuropathy (https://www.nmd-journal.com/article/S0960-8966(16)30499-0/fulltext)

Evaluation of modifications of NIS + 7 score in oligonucleotide trials in TTR FAP (https://www.researchgate.net/publication
/292642592_EVALUATION_OF_MODIFICATIONS_
OF_NIS7_SCORE_IN_OLIGONUCLEOTIDE_TRIALS
_IN_TTR_FAP
)

Early intervention with tafamidis provides long-term benefit in delaying neurological progression in patients with transthyretin familial amyloid polyneuropathy (https://www.researchgate.net/publication
/283575440_Early_intervention_with_
tafamidis_provides_long-term_benefit_in_delaying
_neurological_progression_in_patients_with_
transthyretin_familial_amyloid_polyneuropathy
)

A Review of Tafamidis for the Treatment of Transthyretin-Related Amyloidosis (https://link.springer.com/article/10.1007/s40120-015-0031-3)
Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis (https://www.ncbi.nlm.nih.gov/pubmed/26610878)

Identification of a new variant of TTR involved in familial amyloid cardiomyopathy (FAC) in Brazil: from the patient to the protein (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641998/)

Early intervention with tafamidis provides long-term benefit in delaying neurological progression in patients with transthyretin familial amyloid polyneuropathy (https://www.researchgate.net/publication
/283575440_Early_intervention_with_
tafamidis_provides_long-term_benefit_in_delaying
_neurological_progression_in_patients_with_
transthyretin_familial_amyloid_polyneuropathy
)

The phenotypical expression of an European inherithed TTR amyloidosis in Brazil (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642071/)

2016

Early intervention with tafamidis provides longterm (5.5-year) delay of neurologic progression in transthyretin hereditary amyloid polyneuropathy (https://www.ncbi.nlm.nih.gov/pubmed/27494299)

Genotype and Phenotype of Transthyretin Cardiac Amyloidosis: THAOS (https://www.ncbi.nlm.nih.gov/pubmed/27386769)

2017

Applying an artificial neural network model for developing a severity score for patients with hereditary amyloid polyneuropathy (https://www.ncbi.nlm.nih.gov/pubmed/28719236)

Global epidemiology of transthyretin hereditary amyloid polyneuropathy: a systematic review (https://www.ncbi.nlm.nih.gov/pubmed/28434339)

The demographic, genetic, and clinical characteristics of Brazilian subjects enrolled in the Transthyretin Amyloidosis Outcomes Survey (https://www.ncbi.nlm.nih.gov/pubmed/28434317)

Epidemiological and clinical characteristics of persons with transthyretin hereditary amyloid polyneuropathy: a global synthesis of 532 cases (https://www.ncbi.nlm.nih.gov/pubmed/28434345)

2018

Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy. (https://www.ncbi.nlm.nih.gov/pubmed/30365625)

Estimating the global prevalence of transthyretin familial amyloid polyneuropathy (https://www.ncbi.nlm.nih.gov/pubmed/29211930)
Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis (https://www.nejm.org/doi/full/10.1056/NEJMoa1716793)

Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy (https://www.nejm.org/doi/full/10.1056/NEJMoa1805689)

Hereditary transthyretin amyloidosis: baseline characteristics of patients in the NEURO-TTR trial (https://www.ncbi.nlm.nih.gov/pubmed/30169969)

Kind and Distribution of Cutaneous Sensation Loss in Hereditary Transthyretin Amyloidosis with Polyneuropathy (https://www.ncbi.nlm.nih.gov/pubmed/30219500)

Efficacy of tafamidis in transthyretin amyloid cardiomyopathy in the ATTR-ACT trial: sensitivity analyses further support the primary results (https://www.sciencedirect.com/science/article
/abs/pii/S1071916418312065
)

2019

Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series (https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1000-1)

Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS) (https://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2019000200096)

Transthyretin deposition in the eye in the era of effective therapy for hereditary ATTRV30M amyloidosis (https://www.ncbi.nlm.nih.gov/pubmed/30675806)

Late-onset hereditary ATTR V30M amyloidosis with polyneuropathy: Characterization of Brazilian subjects from the THAOS registry (https://www.ncbi.nlm.nih.gov/pubmed/31163298)

Inflammatory profiling of patients with familial amyloid polyneuropathy (https://www.ncbi.nlm.nih.gov/pmc/articles
/PMC6599258/
)

Inotersen for the treatment of adults with polyneuropathy caused by hereditary transthyretin-mediated amyloidosis (https://www.ncbi.nlm.nih.gov/pubmed/31268366)

Geographic distribution of ATTR cases from CEPARM across the Brazilian territory and their clinical aspects, demographics, ethnic and family background (https://www.ncbi.nlm.nih.gov/pubmed/31343314)

Albumin/creatinine (uACR) and protein/creatinine (uPCR) ratios in spot urine samples can be used to evaluate albuminuria and proteinuria in hereditary transthyretin amyloidosis patients (https://www.ncbi.nlm.nih.gov/pubmed/31343291)

Inotersen for the treatment of adults with polyneuropathy caused by hereditary transthyretin mediated amyloidosis (https://www.ncbi.nlm.nih.gov/pubmed/31268366)

Tafamidis for autonomic neuropathy in hereditary transthyretin (ATTR) amyloidosis: a review (https://www.ncbi.nlm.nih.gov/pubmed/31407119)

2020

Evaluation of Mortality During Long-Term Treatment with Tafamidis for Transthyretin Amyloidosis with Polyneuropathy: Clinical Trial Results up to 8.5 Years (https://www.ncbi.nlm.nih.gov/pubmed/32107748)