The Experts below are selected from a list of 261 Experts worldwide ranked by ideXlab platform
Teresa Coelho - One of the best experts on this subject based on the ideXlab platform.
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C1QA and C1QC modify age‐at‐onset in Familial Amyloid Polyneuropathy patients
Annals of clinical and translational neurology, 2019Co-Authors: Andreia Dias, Teresa Coelho, Diana Santos, Jorge Sequeiros, Isabel Alonso, Alda Sousa, Miguel Alves-ferreira, Carolina LemosAbstract:Objectives Transthyretin (TTR) Familial Amyloid Polyneuropathy (FAP) (OMIM 176300) shows a variable age‐at‐onset (AO), including within families. We hypothesized that variants in C1QA and C1QC genes, might also act as genetic modifiers of AO in TTR‐FAP Val30Met Portuguese patients.
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clinical measures in transthyretin Familial Amyloid Polyneuropathy
Muscle & Nerve, 2017Co-Authors: Teresa Coelho, Jeff Packman, Aaron I Vinik, Etta J Vinik, Tara Tripp, Donna R GroganAbstract:Introduction: This observational, cross-sectional, single-center study aimed to identify instruments capable of measuring disease progression in transthyretin Familial Amyloid Polyneuropathy (TTR-FAP). Methods: The relationship between disease stage and Neuropathy Impairment Score-Lower Limbs (NIS-LL) and Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOLDN) total score was assessed in 61 (stage 1–stage 3) patients with TTR-FAP (V30M variant) and 16 healthy controls. Composite measures of large- and small-nerve fiber function, and modified body mass index (mBMI) were also assessed. Results: Ordinal-based NIS-LL and Norfolk QOL-DN scores discriminated between disease stages (P<0.0001 for NIS-LL and Norfolk QOL-DN). Longer disease duration correlated with worse NIS-LL and Norfolk QOL-DN. Karnofsky Performance score declined progressively by disease stage. Composite measures of nerve fiber function differentiated stage 1 from stage 2 disease. mBMI declined with advancing disease. Discussion: NIS-LL, Norfolk QOL-DN score, composite endpoints of nerve fiber function, and mBMI are valid, reliable measures of TTR-FAP severity. This article is protected by copyright. All rights reserved.
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variants in rbp4 and ar genes modulate age at onset in Familial Amyloid Polyneuropathy fap attrv30m
European Journal of Human Genetics, 2016Co-Authors: Diana Santos, Teresa Coelho, Miguel Alvesferreira, Jorge Sequeiros, Denisa Mendonca, Isabel Alonso, Carolina Lemos, Alda SousaAbstract:Variants in RBP4 and AR genes modulate age at onset in Familial Amyloid Polyneuropathy (FAP ATTRV30M)
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first european consensus for diagnosis management and treatment of transthyretin Familial Amyloid Polyneuropathy
Current Opinion in Neurology, 2016Co-Authors: David H Adams, Ole B Suhr, Ernst Hund, Laura Obici, Ivailo Tournev, Josep M Campistol, M Slama, Bouke P C Hazenberg, Teresa CoelhoAbstract:Purpose of review Early and accurate diagnosis of transthyretin Familial Amyloid Polyneuropathy (TTR-FAP) represents one of the major challenges faced by physicians when caring for patients with id ...
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Psychopathological dimensions in Familial Amyloid Polyneuropathy patients
Orphanet Journal of Rare Diseases, 2015Co-Authors: Alice Lopes, Alexandra Sousa, Isabel Fonseca, Margarida Branco, Carla Rodrigues, Paula Freitas, Teresa CoelhoAbstract:There are very few studies about psychopathology in Familial Amyloid Polyneuropathy patients or in asymptomatic carriers. In our clinical experience in a psychiatric and psychological consultation, we mostly see patients suffering from depression and anxiety symptoms and emotional distress related to some specific, emotionally charged moments caused by the disease. We wanted to evaluate psychopathological dimensions in the population that attends external consultation at Corino de Andrade Unit.
David H Adams - One of the best experts on this subject based on the ideXlab platform.
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Familial Amyloid Polyneuropathy
Current Opinion in Neurology, 2017Co-Authors: David H Adams, Cecile Cauquil, Celine LabeyrieAbstract:Purpose of reviewTransthyretin Familial Amyloid Polyneuropathy is the most disabling hereditary Polyneuropathy of adult onset because of a point mutation of transthyretin gene. This review updates our knowledge about natural history of the disease, phenotypes, diagnosis tools for small and large fib
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first european consensus for diagnosis management and treatment of transthyretin Familial Amyloid Polyneuropathy
Current Opinion in Neurology, 2016Co-Authors: David H Adams, Ole B Suhr, Ernst Hund, Laura Obici, Ivailo Tournev, Josep M Campistol, M Slama, Bouke P C Hazenberg, Teresa CoelhoAbstract:Purpose of review Early and accurate diagnosis of transthyretin Familial Amyloid Polyneuropathy (TTR-FAP) represents one of the major challenges faced by physicians when caring for patients with id ...
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ocular manifestations of transthyretin related Familial Amyloid Polyneuropathy
Orphanet Journal of Rare Diseases, 2015Co-Authors: Antoine Rousseau, Cecile Cauquil, Emmanuel Barreau, Julia Meney, Zoia Mincheva, Marie Theaudin, M Labetoulle, David H AdamsAbstract:Background Ocular manifestations of transthyretin-related Familial Amyloid Polyneuropathy (TTR-FAP) mainly include keratoconjunctivitis sicca, secondary glaucoma and vitreous deposits. Because liver transplantation (LT) and symptomatic treatments greatly improve life expectancy of patients, ocular involvement is becoming a more frequent challenge to address. We aimed at studying the prevalence and the clinical characteristics of ocular manifestations of TTR-FAP.
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the rehabilitation in the management of transthyretin Familial Amyloid Polyneuropathy
Orphanet Journal of Rare Diseases, 2015Co-Authors: Agnes Morier, David H Adams, Cecile Cauquil, Marie Theaudin, Alyssa De Sousa, Colombe Lemoine, Herve ChanutAbstract:The rehabilitation is part of a drug free therapy management of peripheral Polyneuropathy. The Transthyretin Familial Amyloid Polyneuropathy this illness entails deficiencies that do impact on the day to day physical comfort and everyday life of patients. They have motor function and sensory consequences.
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phase 2 open label extension study of patisiran an investigational rnai therapeutic for the treatment of Familial Amyloid Polyneuropathy
Journal of Neurology Neurosurgery and Psychiatry, 2015Co-Authors: David H Adams, Ole B Suhr, Isabel Conceicao, Josep M Campistol, Hartmut Schmidt, John L Berk, Marcia Waddingtoncruz, Juan Buades, J Pouget, Teresa CoelhoAbstract:Phase 2 open-label extension study of patisiran, an investigational RNAi therapeutic for the treatment of Familial Amyloid Polyneuropathy
Isabel Conceicao - One of the best experts on this subject based on the ideXlab platform.
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Phase 2 open-label extension study (ole) of patisiran, an investigational sIRNA investigational agent for Familial Amyloid Polyneuropathy (fap)
Journal of The Peripheral Nervous System, 2020Co-Authors: T. Coelho, Ole B Suhr, Isabel Conceicao, Josep M Campistol, Hartmut Schmidt, John L Berk, Juan Buades, J Pouget, Marcia Waddington-cruz, Rick FalzoneAbstract:Phase 2 open-label extension study (ole) of patisiran, an investigational sIRNA investigational agent for Familial Amyloid Polyneuropathy (fap)
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how useful is 99mtc dpd scintigraphy in diagnosis of cardiac Amyloidosis in transthyretin v30m Familial Amyloid Polyneuropathy
Journal of the American College of Cardiology, 2017Co-Authors: Maria Azevedo C Coutinho, Isabel Conceicao, Guilhermina Cantinho, Susana Gonçalves, Nuno Cortezdias, Tatiana Guimaraes, Gustavo Lima Da Silva, Ana Rita G Francisco, Laura Santos, Fausto J PintoAbstract:Background: Previous studies suggested that 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD) scintigraphy may be useful for early diagnosis of hereditary transthyretin (TTR) related cardiac Amyloidosis. However its diagnostic value in V30M TTR Familial Amyloid Polyneuropathy (FAP) remains
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epidemiology of transthyretin Familial Amyloid Polyneuropathy in portugal
Orphanet Journal of Rare Diseases, 2015Co-Authors: Monica Ines, Teresa Coelho, Isabel Conceicao, Filipa Duarteramos, Mamede De Carvalho, Joao CostaAbstract:Background Transthyretin Familial Amyloid Polyneuropathy (TTRFAP) is a rare, progressive, debilitating and life-threatening neurodegenerative disease. TTR-FAP is a rare disease worldwide. In Europe a disease is defined as rare when it affects less than 1 in 2000 inhabitants. Portugal has the largest cluster worldwide nonetheless recent Portuguese epidemiologic data is lacking. The purpose of this study is to estimate TTR-FAP prevalence in Portugal.
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transthyretin Familial Amyloid Polyneuropathy impact on health related quality of life
Orphanet Journal of Rare Diseases, 2015Co-Authors: Monica Ines, Teresa Coelho, Isabel Conceicao, Mamede De Carvalho, Lara N Ferreira, Joao CostaAbstract:Background Transthyretin Familial Amyloid Polyneuropathy (TTRFAP) is a rare, progressive, debilitating and life-threatening neurodegenerative disease. The purpose of this study was to assess the health-related quality of life (HRQoL) impairment of TTR-FAP disease versus Portuguese general population and to identify individual patient characteristics such as disease stage – that affects their HRQoL. Literature on TTR-FAP patients HRQoL is scarce at worldwide level and no evidence for Portugal has been published.
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phase 2 open label extension study of patisiran an investigational rnai therapeutic for the treatment of Familial Amyloid Polyneuropathy
Journal of Neurology Neurosurgery and Psychiatry, 2015Co-Authors: David H Adams, Ole B Suhr, Isabel Conceicao, Josep M Campistol, Hartmut Schmidt, John L Berk, Marcia Waddingtoncruz, Juan Buades, J Pouget, Teresa CoelhoAbstract:Phase 2 open-label extension study of patisiran, an investigational RNAi therapeutic for the treatment of Familial Amyloid Polyneuropathy
Ole B Suhr - One of the best experts on this subject based on the ideXlab platform.
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Phase 2 open-label extension study (ole) of patisiran, an investigational sIRNA investigational agent for Familial Amyloid Polyneuropathy (fap)
Journal of The Peripheral Nervous System, 2020Co-Authors: T. Coelho, Ole B Suhr, Isabel Conceicao, Josep M Campistol, Hartmut Schmidt, John L Berk, Juan Buades, J Pouget, Marcia Waddington-cruz, Rick FalzoneAbstract:Phase 2 open-label extension study (ole) of patisiran, an investigational sIRNA investigational agent for Familial Amyloid Polyneuropathy (fap)
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first european consensus for diagnosis management and treatment of transthyretin Familial Amyloid Polyneuropathy
Current Opinion in Neurology, 2016Co-Authors: David H Adams, Ole B Suhr, Ernst Hund, Laura Obici, Ivailo Tournev, Josep M Campistol, M Slama, Bouke P C Hazenberg, Teresa CoelhoAbstract:Purpose of review Early and accurate diagnosis of transthyretin Familial Amyloid Polyneuropathy (TTR-FAP) represents one of the major challenges faced by physicians when caring for patients with id ...
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phase 2 open label extension study of patisiran an investigational rnai therapeutic for the treatment of Familial Amyloid Polyneuropathy
Journal of Neurology Neurosurgery and Psychiatry, 2015Co-Authors: David H Adams, Ole B Suhr, Isabel Conceicao, Josep M Campistol, Hartmut Schmidt, John L Berk, Marcia Waddingtoncruz, Juan Buades, J Pouget, Teresa CoelhoAbstract:Phase 2 open-label extension study of patisiran, an investigational RNAi therapeutic for the treatment of Familial Amyloid Polyneuropathy
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post hoc analysis of nutritional status in patients with transthyretin Familial Amyloid Polyneuropathy impact of tafamidis
Neurology and Therapy, 2014Co-Authors: Ole B Suhr, Isabel Conceicao, Onur N Karayal, F Mandel, Pedro Huertas, Bogoran EriczonAbstract:Introduction Gastrointestinal symptoms are common among patients with transthyretin Familial Amyloid Polyneuropathy (TTR-FAP). This post hoc analysis evaluated the nutritional status of TTR-FAP patients treated with tafamidis while enrolled in clinical trials.
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repurposing diflunisal for Familial Amyloid Polyneuropathy a randomized clinical trial
JAMA, 2013Co-Authors: John L Berk, Ole B Suhr, Yoshiki Sekijima, Taro Yamashita, Laura Obici, Steven R Zeldenrust, Michael A Heneghan, Peter D Gorevic, William J Litchy, Janice F WiesmanAbstract:RESULTS By multiple imputation, the NIS+7 score increased by 25.0 (95% CI, 18.4-31.6) points in the placebo group and by 8.7 (95% CI, 3.3-14.1) points in the diflunisal group, a difference of 16.3 points (95% CI, 8.1-24.5 points; P < .001). Mean SF-36 physical scores decreased by 4.9 (95% CI, −7.6 to −2.2) points in the placebo group and increased by 1.5 (95% CI, −0.8 to 3.7) points in the diflunisal group (P < .001). Mean SF-36 mental scores declined by 1.1 (95% CI, −4.3 to 2.0) points in the placebo group while increasing by 3.7 (95% CI, 1.0-6.4) points in the diflunisal group (P = .02). By responder analysis, 29.7% of the diflunisal group and 9.4% of the placebo group exhibited neurological stability at 2 years (<2-point increase in NIS+7 score; P = .007). CONCLUSIONS AND RELEVANCE Among patients with Familial Amyloid Polyneuropathy, the use of diflunisal compared with placebo for 2 years reduced the rate of progression of neurological impairment and preserved quality of life. Although longer-term follow-up studies are needed, these findings suggest benefit of this treatment for Familial Amyloid Polyneuropathy.
Gen Sobue - One of the best experts on this subject based on the ideXlab platform.
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vasculopathy in transthyretin val30met Familial Amyloid Polyneuropathy
Orphanet Journal of Rare Diseases, 2015Co-Authors: Haruki Koike, Shohei Ikeda, Mie Takahashi, Yuichi Kawagashira, Masahiro Iijima, Masahisa Katsuno, Gen SobueAbstract:Background Transthyretin (TTR) Val30Met-associated Familial Amyloid Polyneuropathy (FAP ATTR Val30Met) is the most common form of FAP and has become prevalent in areas other than conventional endemic foci. The clinicopathological features of FAP ATTR Val30Met are known to vary between endemic foci and non-endemic areas in Japan. Characteristic features of early-onset cases from Japanese endemic foci include the presence of sensory dissociation and marked autonomic dysfunction associated with a predominant loss of small-diameter myelinated and unmyelinated nerve fibers. These characteristics are uncommon in late-onset cases from non-endemic areas.
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Late-onset Familial Amyloid Polyneuropathy in Japan.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis, 2012Co-Authors: Haruki Koike, Gen SobueAbstract:Transthyretin (TTR) Val30Met-associated Familial Amyloid Polyneuropathy (FAP ATTR Val30Met) is the most common form of FAP. We compared the clinicopathological features and natural history of late-onset FAP ATTR Val30Met cases from non-endemic areas of Japan with early-onset cases from endemic foci. The characteristics of early-onset cases from endemic foci of Japan included the presence of sensory dissociation and marked autonomic dysfunction associated with a predominant loss of small-diameter myelinated and unmyelinated nerve fibers. These characteristics were not common in the late-onset cases from non-endemic areas. The distribution and characteristics of Amyloid deposits in late-onset cases were similar to those of senile systemic Amyloidosis with wild-type TTR deposition. The causal mechanism of differences between the early- and late-onset forms of FAP with the same mutation in the TTR gene has not yet been determined.
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electrophysiological features of late onset transthyretin met30 Familial Amyloid Polyneuropathy unrelated to endemic foci
Journal of Neurology, 2008Co-Authors: Haruki Koike, Shu-ichi Ikeda, Yukio Ando, Yuichi Kawagashira, Masahiro Iijima, Masahiko Yamamoto, Naoki Hattori, Fumiaki Tanaka, Masaaki Hirayama, Gen SobueAbstract:Background Through the development of gene diagnostic techniques, late-onset transthyretin Met30-associated Familial Amyloid Polyneuropathy (FAP TTR Met30) has been shown to be more prevalent than is generally believed.