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familial amyloid polyneuropathy

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https://www.readbyqxmd.com/read/28090046/an-isolated-case-of-late-onset-amyloidogenic-transthyretin-type-familial-amyloid-polyneuropathy-associated-with-a-mutant-transthyretin-substituting-methionine-for-valine-at-position-30-showing-latent-progressive-cardiac-involvement-confirmed-by-serial-annual
#1
Chikako Sato, Tomofumi Takaya, Shumpei Mori, Kohei Hasegawa, Fumitaka Soga, Hidekazu Tanaka, Yoshiaki Watanabe, Tatsuya Nishii, Atsushi K Kono, Yukiko Morinaga, Hatsue Ishibashi-Ueda, Ken-Ichi Hirata
Late-onset amyloidogenic transthyretin (ATTR) type familial amyloid polyneuropathy (FAP) shows features distinct from those of early-onset hereditary ATTR type FAP. We herein describe an asymptomatic 68-year-old man with late-onset ATTR type FAP whose serial annual electrocardiograms demonstrated progressive left bundle branch block. Latent but severe cardiac involvement seems to be one feature of late-onset ATTR type FAP, similar to senile systemic amyloidosis (SSA). Early differential diagnosis of late-onset ATTR type FAP from SSA is important because, currently, only the former has new therapeutic options available in Japan...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28051995/in-vitro-modelling-of-familial-amyloidotic-polyneuropathy-allows-quantitative-detection-of-transthyretin-amyloid-fibril-like-structures-in-hepatic-derivatives-of-patient-specific-induced-pluripotent-stem-cells
#2
Jeannine Hoepfner, Mandy Kleinsorge, Oliver Papp, Susanne Alfken, Robin Heiringhoff, Andreas Pich, Vanessa Sauer, Andree Zibert, Gudrun Göhring, Hartmut Schmidt, Malte Sgodda, Tobias Cantz
The transthyretin protein is thermodynamically destabilised by mutations in the transthyretin gene, promoting the formation of amyloid fibrils in various tissues. Consequently, impaired autonomic organ function is observed in patients suffering from transthyretin-related Familial Amyloidotic Polyneuropathy (FAP). The influence of individual genetic backgrounds on fibril formation as a potential cause of genotype-phenotype variations needs to be investigated in order to ensure efficient patient-specific therapies...
January 4, 2017: Biological Chemistry
https://www.readbyqxmd.com/read/27971798/global-prevalence-estimates-of-transthyretin-familial-amyloid-polyneuropathy-attr-fap-a-systematic-review-and-projections
#3
H Schmidt, M Waddington-Cruz, M Botteman, J A Carter, A S Chopra, M Stewart, M Hopps, S Fallet, L Amass
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27971679/temporal-trends-in-transthyretin-familial-amyloid-polyneuropathy-natural-survival-over-a-century
#4
M Inês, T Coelho, I Conceição, P Saramago Goncalves, M Carvalho, J Costa
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27971665/treatment-comparative-effectiveness-in-rare-diseases-the-case-of-transthyretin-familial-amyloid-polyneuropathy-survival
#5
M Inês, T Coelho, I Conceição, P Saramago Goncalves, M Carvalho, J Costa
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27931573/survival-predictors-in-liver-transplantation-time-varying-effect-of-red-blood-cell-transfusion
#6
C Real, D Sobreira Fernandes, P Sá Couto, F Correia de Barros, S Esteves, I Aragão, L Fonseca, J Aguiar, T Branco, Z Fernandes Moreira
BACKGROUND: Many attempts have been undertaken to better predict outcome after liver transplantation. The aim of this study was to identify the pre- and intraoperative variables that may influence the survival after liver transplantation, at a single institution. METHODS: Anesthetic records from 543 consecutive patients who underwent liver transplantation from June 2006 to June 2014 were reviewed in this retrospective study. Patients undergoing retransplantation were excluded from the analysis, as were patients with familial amyloid polyneuropathy...
December 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27919414/early-diagnosis-in-patients-with-transthyretin-familial-amyloid-polyneuropathy-a-comparative-study
#7
Manuel Raya-Cruz, Juan Buades-Reines, Cristina Gállego-Lezáun, Tomás Ripoll-Vera, Mercedes Usón-Martín, Eugenia Cisneros-Barroso
INTRODUCTION AND OBJECTIVE: Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) is a disease caused by the deposit of abnormal transthyretin on tissues, mainly nerves. Small nerve fibers are altered earlier during the course of the disease; hence, detection of their involvement may have serious consequences on the natural history of disease. METHODS: A cross-sectional, observational study, was carried out on symptomatic patients, involving the conduct of several tests for small nerve fibers: Vibration, Touch Pressure (TP) and Heat Pain (HP)...
January 20, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/27884058/efficiency-of-silencing-rna-for-removal-of-transthyretin-v30m-in-a-ttr-leptomeningeal-animal-model
#8
Paula Gonçalves, Helena Martins, Susete Costelha, Luis F Maia, Maria Joao Saraiva
Some TTR mutants target the central nervous system (CNS). Familial amyloid polyneuropathy (FAP) with leptomeningeal involvement has been described in 9% of transthyretin (TTR) mutations and in valine for methionine at position 30 (V30M) patients. These individuals present dementia, ataxia, brain hemorrhages and focal neurological episodes (FNEs). FNEs occurred also in V30M FAP patients with longer disease duration, who have undergone liver transplant to remove the source of plasma mutant TTR as a form of treatment...
December 2016: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/27878441/long-term-treatment-of-transthyretin-familial-amyloid-polyneuropathy-with-tafamidis-a-clinical-and-neurophysiological-study
#9
Violaine Planté-Bordeneuve, Farida Gorram, Hayet Salhi, Tarik Nordine, Samar S Ayache, Philippe Le Corvoisier, Daniel Azoulay, Cyrille Feray, Thibaud Damy, Jean-Pascal Lefaucheur
Tafamidis is a transthyretin (TTR) stabilizer recently approved to slow the neurologic impairment in TTR familial amyloid polyneuropathy (TTR-FAP). The pivotal studies on Tafamidis reported encouraging results on the short term, in the early onset Val30Met-TTR-FAP patients at an early stage of the neuropathy. However, the effect of the drug in the non-Val30Met patients, at a more advanced stage of the disease and on the long term, is less known. In this study, we report the effect of Tafamidis in 43 TTR-FAP patients with a variety of pathogenic mutations, including 53% of non-Val30Met variants, at different stages of neuropathy followed on the long term...
November 22, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27873215/current-and-future-treatment-approaches-in-transthyretin-familial-amyloid-polyneuropathy
#10
REVIEW
Philippe Kerschen, Violaine Planté-Bordeneuve
Treatment of transthyretin familial amyloid polyneuropathy (TTR FAP) must be tailored to disease stage. Patients with early stage disease (i.e., without major impairment in walking ability), especially younger patients, should be referred as soon as possible for liver transplantation (LT) in the absence of major comorbid conditions. LT remains the most effective treatment option to date and should be offered to these patients as early as possible. Bridging therapy with an oral TTR stabilizer (tafamidis or diflunisal, according to local access to these treatments) should be started as soon as the diagnosis of TTR FAP is established...
December 2016: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/27872470/hereditary-amyloidosis-with-recurrent-lung-infiltrates
#11
Alberto E Revelo, Crischelle Magaspi, George Maguire, Wilbert S Aronow
BACKGROUND Amyloidosis is a protein conformational disorder characterized by extracellular deposition of amyloid fibrils in extracellular tissue. Lung involvement is most commonly caused by secondary AL amyloidosis. The familial autosomal-dominant senile transthyretin (ATTR) disease manifests mainly as polyneuropathy and restrictive cardiomyopathy denoting the name familial amyloidotic polyneuropathy (FAP). Rarely, this form manifests with clinical and radiologically relevant respiratory tract symptoms and lung involvement...
November 22, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27859927/clinical-features-of-familial-amyloid-polyneuropathy-carrying-transthyretin-mutations-in-four-chinese-kindreds
#12
Gonglu Liu, Wang Ni, Hongxia Wang, Hongfu Li, Yue Zhang, Ning Wang, Zhiying Wu
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disorder, characterized by a length-dependent polyneuropathy and dysfunction of various organs. Wide phenotypic heterogeneity makes early diagnosis difficult. In this study, we reviewed the clinical and electrophysiological features of four unrelated Chinese families with genetically confirmed TTR-FAP. Sequence analysis of TTR gene revealed the presence of four different mutations: Thr49Ala(p.Thr69Ala), Leu55Arg(p.Leu75Arg), Tyr116Ser(p...
November 17, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27848118/minor-salivary-gland-biopsy-for-the-diagnosis-of-familial-amyloid-polyneuropathy
#13
Fernanda de Paula Eduardo, Letícia de Mello Bezinelli, Danielle Lima Corrêa de Carvalho, Bianca Della-Guardia, Marcio Dias de Almeida, Lidiane Vieira Marins, Luciana Corrêa
The diagnosis of Val30Met familial amyloidotic polyneuropathy (FAP) is based on genetic tests, clinical manifestations, familial history and biopsy of peripheral tissues (e.g. rectum, abdominal fat pad, sural nerve, and minor salivary gland) to confirm the presence of amyloid deposits. The aim of this study was to determine the frequency of amyloid deposits in minor salivary glands biopsied from FAP patients and to investigate whether an association exists between the presence of these deposits and clinical features...
November 15, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27794111/schwann-cell-and-endothelial-cell-damage-in-transthyretin-familial-amyloid-polyneuropathy
#14
Haruki Koike, Shohei Ikeda, Mie Takahashi, Yuichi Kawagashira, Masahiro Iijima, Yohei Misumi, Yukio Ando, Shu-Ichi Ikeda, Masahisa Katsuno, Gen Sobue
OBJECTIVE: To examine the morphology of Schwann cells and endoneurial microvessels with electron microscopy. METHODS: Sural nerve biopsy specimens from 49 patients with familial amyloid polyneuropathy (FAP) with transthyretin Val30Met mutation were assessed. Patients included 11 early-onset cases from endemic foci and 38 late-onset cases from nonendemic areas. RESULTS: Loss of nerve fibers with or without neighboring amyloid deposition was a common feature...
October 28, 2016: Neurology
https://www.readbyqxmd.com/read/27793437/familial-amyloidosis-with-polyneuropathy-type-1-caused-by-transthyretin-mutation-val50met-val30met-4-cases-in-a-non-endemic-area
#15
N Andrés, J J Poza, J F Martí Massó
INTRODUCTION: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. It progresses rapidly and can lead to death in approximately 10 years. Other phenotypes have been described in non-endemic areas. OBJECTIVES AND METHODS: We described 4 cases from the Spanish province of Guipuzcoa, a non-endemic area, to highlight the clinical variability of this disease...
October 26, 2016: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/27758856/novel-antibody-for-the-treatment-of-transthyretin-amyloidosis
#16
Akihiko Hosoi, Yu Su, Masaharu Torikai, Hirofumi Jono, Daisuke Ishikawa, Kenji Soejima, Hirofumi Higuchi, Jianying Guo, Mitsuharu Ueda, Genki Suenaga, Hiroaki Motokawa, Tokunori Ikeda, Satoru Senju, Toshihiro Nakashima, Yukio Ando
Familial amyloidotic polyneuropathy (FAP) is a systemic amyloidosis mainly caused by amyloidogenic transthyretin (ATTR). This incurable disease causes death ∼10 years after onset. Although it has been widely accepted that conformational change of the monomeric form of transthyretin (TTR) is very important for amyloid formation and deposition in the organs, no effective therapy targeting this step is available. In this study, we generated a mouse monoclonal antibody, T24, that recognized the cryptic epitope of conformationally changed TTR...
November 25, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27742294/histology-utility-in-liver-graft-surveillance-what-about-normal-liver-tests
#17
S Pereira, C M Cruz, M Soares, J Gandara, S Ferreira, V Lopes, R Vizcaíno, J Daniel, H P Miranda
INTRODUCTION: In liver transplantation, late graft dysfunction can have several causes, particularly rejection, infection, vascular, biliary complications, and others, usually suspected by abnormal liver tests. However, normal liver tests do not confirm a normal graft and liver biopsy could identify unexpected features with repercussions in immunosuppressive therapy. The aim of this study was to determinate the histological abnormalities in patients 10 years after liver allograft transplantation with sustainably normal liver tests and evaluate the changes in immunosuppressive therapy triggered by histological data...
September 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27695122/involvement-of-macrophages-in-the-pathogenesis-of-familial-amyloid-polyneuropathy-and-efficacy-of-human-ips-cell-derived-macrophages-in-its-treatment
#18
Genki Suenaga, Tokunori Ikeda, Yoshihiro Komohara, Koutaro Takamatsu, Tatsuyuki Kakuma, Masayoshi Tasaki, Yohei Misumi, Mitsuharu Ueda, Takaaki Ito, Satoru Senju, Yukio Ando
We hypothesized that tissue-resident macrophages in familial amyloid polyneuropathy (FAP) patients will exhibit qualitative or quantitative abnormalities, that may accelerate transthyretin (TTR)-derived amyloid deposition. To evaluate this, we examined the number and subset of tissue-resident macrophages in heart tissue from amyloid-deposited FAP and control patients. In both FAP and control patients, tissue-resident macrophages in heart tissue were all Iba+/CD163+/CD206+ macrophages. However, the number of macrophages was significantly decreased in FAP patients compared with control patients...
2016: PloS One
https://www.readbyqxmd.com/read/27663057/familial-amyloid-polyneuropathy-when-does-it-stop-to-be-asymptomatic-and-need-a-treatment
#19
REVIEW
D Adams, G Beaudonnet, C Adam, C Lacroix, M Théaudin, C Cauquil, C Labeyrie
Transthyretin familial amyloid polyneuropathy (FAP) is a rare disease with autosomal transmission due to point mutation of the transthyretin (TTR) gene. It is the most disabling hereditary neuropathy affecting sensory, motor and autonomic nerves, and is irreversible and fatal within 7 to 12 years of onset in the absence of therapy. Diagnosis is usually delayed for 1-5 years because the onset is usually insidious, and a positive family history is lacking in 50% of late-onset cases. Penetrance is variable, and depends of the age of the carrier and age of onset in family members...
October 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27589730/a-new-folding-kinetic-mechanism-for-human-transthyretin-and-the-influence-of-the-amyloidogenic-v30m-mutation
#20
Catarina S H Jesus, Zaida L Almeida, Daniela C Vaz, Tiago Q Faria, Rui M M Brito
Protein aggregation into insoluble amyloid fibrils is the hallmark of several neurodegenerative diseases, chief among them Alzheimer's and Parkinson's. Although caused by different proteins, these pathologies share some basic molecular mechanisms with familial amyloidotic polyneuropathy (FAP), a rare hereditary neuropathy caused by amyloid formation and deposition by transthyretin (TTR) in the peripheral and autonomic nervous systems. Among the amyloidogenic TTR mutations known, V30M-TTR is the most common in FAP...
August 31, 2016: International Journal of Molecular Sciences
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