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familial amyloid polyneuropathy

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https://www.readbyqxmd.com/read/28635419/multimodal-imaging-gd-nanoparticles-functionalized-with-pittsburgh-compound-b-or-a-nanobody-for-amyloid-plaques-targeting
#1
Jonathan Pansieri, Marie Plissonneau, Nathalie Stransky-Heilkron, Mireille Dumoulin, Laurence Heinrich-Balard, Pascaline Rivory, Jean-François Morfin, Eva Toth, Maria Joao Saraiva, Eric Allémann, Olivier Tillement, Vincent Forge, François Lux, Christel Marquette
AIM: Gadolinium-based nanoparticles were functionalized with either the Pittsburgh compound B or a nanobody (B10AP) in order to create multimodal tools for an early diagnosis of amyloidoses. MATERIALS & METHODS: The ability of the functionalized nanoparticles to target amyloid fibrils made of β-amyloid peptide, amylin or Val30Met-mutated transthyretin formed in vitro or from pathological tissues was investigated by a range of spectroscopic and biophysics techniques including fluorescence microscopy...
June 21, 2017: Nanomedicine
https://www.readbyqxmd.com/read/28625364/semi-quantitative-models-for-identifying-potent-and-selective-transthyretin-amyloidogenesis-inhibitors
#2
Stephen Connelly, David E Mortenson, Sungwook Choi, Ian A Wilson, Evan T Powers, Jeffery W Kelly, Steven M Johnson
Rate-limiting dissociation of the tetrameric protein transthyretin (TTR), followed by monomer misfolding and misassembly, appears to cause degenerative diseases in humans known as the transthyretin amyloidoses, based on human genetic, biochemical and pharmacologic evidence. Small molecules that bind to the generally unoccupied thyroxine binding pockets in the native TTR tetramer kinetically stabilize the tetramer, slowing subunit dissociation proportional to the extent that the molecules stabilize the native state over the dissociative transition state-thereby inhibiting amyloidogenesis...
May 26, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28611125/design-and-rationale-of-the-phase-3-attr-act-clinical-trial-tafamidis-in-transthyretin-cardiomyopathy-clinical-trial
#3
Mathew S Maurer, Perry Elliott, Giampaolo Merlini, Sanjiv J Shah, Márcia Waddington Cruz, Alison Flynn, Balarama Gundapaneni, Carolyn Hahn, Steven Riley, Jeffrey Schwartz, Marla B Sultan, Claudio Rapezzi
Transthyretin amyloidosis is a rare, life-threatening disease resulting from aggregation and deposition of transthyretin amyloid fibrils in various tissues. There are 2 predominate phenotypic presentations of the disease: transthyretin familial amyloid polyneuropathy, which primarily affects the peripheral nerves, and transthyretin cardiomyopathy (TTR-CM), which primarily affects the heart. However, there is a wide overlap with symptoms at presentation and disease course being highly variable and influenced by the underlying transthyretin mutation, age of the affected individual, sex, and geographic location...
June 2017: Circulation. Heart Failure
https://www.readbyqxmd.com/read/28609277/corino-de-andrade-disease-mechanisms-and-impact-on-reproduction
#4
REVIEW
Rita A Lopes, Teresa Coelho, Alberto Barros, Mário Sousa
Familial amyloid polyneuropathy was first described by Corino de Andrade in 1952 in Northern Portugal. It is a fatal autosomal dominant neurodegenerative disorder characterized by a progression of neurologic symptoms, beginning early in the reproductive life. The Transthyretin gene mutation originates a mutated protein that precipitates in the connective tissue as amyloid deposits. This disease is presently named Transthyretin-related hereditary amyloidosis. We performed an extensive review on this disease based on searches in Medical databases and in paper references...
June 1, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28602432/neurotrophic-keratopathy-in-a-patient-with-familial-amyloidosis
#5
A M de Carvalho Mendes Castenheira, P Pujol Vives, M Asaad Ammaar
INTRODUCTION: Familial amyloidotic polyneuropathy is a disease related to amyloid material deposits in the extracellular matrix that can affect many tissues, including the eye. CASE REPORT: This case includes clinical data, a full corneal study report, and histopathological findings, as well as the treatment and follow up of bilateral neurotrophic keratopathy in a 33 year-old patient with familial amyloidotic polyneuropathy. DISCUSSION: Although amyloidotic deposits were also found in the conjunctival tissue, this is not a typical form of ophthalmic amyloidosis...
June 8, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28598015/cutaneous-nerve-biomarkers-in-transthyretin-familial-amyloid-polyneuropathy
#6
Gigi J Ebenezer, Ying Liu, Daniel P Judge, Kelly Cunningham, Shaun Truelove, Noel D Carter, Blessan Sebastian, Kelly Byrnes, Michael Polydefkis
OBJECTIVE: To determine the utility of skin biopsies as a biomarker of disease severity in subjects with amyloid neuropathy. METHODS: Five groups of patients were studied: (1) transthyretin (TTR) familial amyloidotic polyneuropathy (FAP; n = 20), (2) TTR mutation carriers without peripheral neuropathy (TTR-noPN; n = 10), (3) healthy controls (n = 20), (4) diabetic neuropathy disease controls (n = 20), and (5) patients with light-chain (AL) amyloid (n = 2)...
June 9, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28583160/differential-expression-of-cathepsin-e-in-transthyretin-amyloidosis-from-neuropathology-to-the-immune-system
#7
Nádia Pereira Gonçalves, João Moreira, Diana Martins, Paulo Vieira, Laura Obici, Giampaolo Merlini, Margarida Saraiva, Maria João Saraiva
BACKGROUND: Increasing evidence supports a key role for inflammation in the neurodegenerative process of familial amyloidotic polyneuropathy (FAP). While there seems to be an overactivation of the neuronal interleukin-1 signaling pathway, the immune response is apparently compromised in FAP. Accordingly, little immune cell infiltration is observed around pre-fibrillar or fibrillar amyloid deposits, with the underlying mechanism for this phenomenon remaining poorly understood. Cathepsin E (CtsE) is an important intermediate for antigen presentation and chemotaxis, but its role in the pathogenesis of FAP disease remains unknown...
June 6, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28527106/a-trans-acting-factor-may-modify-age-at-onset-in-familial-amyloid-polyneuropathy-attrv30m-in-portugal
#8
Miguel Alves-Ferreira, Teresa Coelho, Diana Santos, Jorge Sequeiros, Isabel Alonso, Alda Sousa, Carolina Lemos
Although all familial amyloid polyneuropathy (FAP) ATTRV30M patients carry the same causative mutation, early (<40) and late-onset forms (≥50 years) of FAP may coexist in the same family. However, this variability in age at onset is still unexplained. To identify modifiers closely linked to the TTR locus that may in part be associated with age at onset of FAP ATTRV30M, in particular in a group of very early-onset patients (≤30 years) when compared with late-onset individuals. A clinical genetic study at a referral center comprising a sample of 910 Portuguese individuals includes 589 Val30Met carriers, 102 spouses, and 189 controls from the general population...
May 19, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28508289/somatic-mosaicism-with-reversion-to-normality-of-a-mutated-transthyretin-allele-related-to-a-familial-amyloidotic-polyneuropathy
#9
Concetta Federico, Ketty Dugo, Francesca Bruno, Anna Maria Longo, Agata Grillo, Salvatore Saccone
Familial amyloidotic polyneuropathy (FAP) is a progressive neuropathy, with onset in adulthood and high mortality. It is related to an altered transthyretin (TTR) plasma protein, mainly produced by the liver and responsible for amyloid deposit in the peripheral nervous system. SNPs in the TTR gene were associated with FAP, and the G>C substitution (NM_000371.3:c.325G>C) in the 109th codon (GAG vs CAG; NP_362.1:p.E109Q) was previously described in Sicily (Italy). Here, we report on a Sicilian family with several patients affected by FAP related to the E109Q mutation, which displayed a somatic mosaicism with the reversion to normality of the c...
May 15, 2017: Human Genetics
https://www.readbyqxmd.com/read/28499718/family-amyloid-polyneuropathy-sympathetic-denervation-and-liver-transplantation
#10
Maria João Ferreira
No abstract text is available yet for this article.
May 9, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28484271/inflammatory-state-exists-in-familial-amyloid-polyneuropathy-that-may-be-triggered-by-mutated-transthyretin
#11
Genki Suenaga, Tokunori Ikeda, Teruaki Masuda, Hiroaki Motokawa, Taro Yamashita, Kotaro Takamatsu, Yohei Misumi, Mitsuharu Ueda, Hirotaka Matsui, Satoru Senju, Yukio Ando
The relationship between familial amyloid polyneuropathy (FAP), which is caused by mutated transthyretin (TTR), and inflammation has only recently been noted. To determine whether inflammation is present in FAP carriers and patients, serum interleukin (IL)-6 concentration in 57 healthy donors (HD), 21 FAP carriers, and 66 FAP patients was examined, with the relationship between IL-6 and TTR assessed in each group by multiple regression analysis and structural equation models (SEM). Compared with HD, IL-6 concentration was elevated in FAP carriers (p = 0...
May 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28479268/progression-of-myocardial-sympathetic-denervation-assessed-by-123-i-mibg-imaging-in-familial-amyloid-polyneuropathy-and-the-effect-of-liver-transplantation
#12
Maria da Conceição Azevedo Coutinho, Nuno Cortez-Dias, Guilhermina Cantinho, Isabel Conceição, Tatiana Guimarães, Gustavo Lima da Silva, Miguel Nobre Menezes, Ana Rita Francisco, Rui Plácido, Fausto J Pinto
INTRODUCTION: Familial amyloid polyneuropathy (FAP) is a rare disease caused by systemic deposition of amyloidogenic variants of the transthyretin (TTR) protein. The TTR-V30M mutation is caused by the substitution of valine by methionine at position 30 and mainly affects the peripheral and autonomic nervous systems. Cardiovascular manifestations are common and are due to autonomic denervation and to amyloid deposition in the heart. Cardiac sympathetic denervation detected by iodine-123 labeled metaiodobenzylguanidine (MIBG) is an important prognostic marker in TTR-V30M FAP...
May 4, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28477167/cardiovascular-magnetic-resonance-myocardial-t1-mapping-to-detect-and-quantify-cardiac-involvement-in-familial-amyloid-polyneuropathy
#13
Seitaro Oda, Daisuke Utsunomiya, Kosuke Morita, Takeshi Nakaura, Hideaki Yuki, Masafumi Kidoh, Kenichiro Hirata, Narumi Taguchi, Noriko Tsuda, Shinya Shiraishi, Tomohiro Namimoto, Kyoko Hirakawa, Seiji Takashio, Yasuhiro Izumiya, Megumi Yamamuro, Seiji Hokimoto, Kenichi Tsujita, Mitsuharu Ueda, Taro Yamashita, Yukio Ando, Yasuyuki Yamashita
OBJECTIVES: This study sought to explore the potential role of non-contrast T1 mapping for the detection and quantification of cardiac involvement in familial amyloid polyneuropathy (FAP). METHODS: Japanese patients with FAP [n = 41, age 53.2 ± 13.9 years, genotype Val30Met (n = 25), non-Val30Met (n = 16)] underwent cardiac magnetic resonance imaging that included T1 mapping (saturation-recovery method) and late gadolinium-enhanced (LGE) imaging on a 3...
May 5, 2017: European Radiology
https://www.readbyqxmd.com/read/28460244/late-onset-cardiomyopathy-as-presenting-sign-of-attr-a45g-amyloidosis-caused-by-a-novel-ttr-mutation-p-a65g
#14
Sebastiaan H C Klaassen, Henny H Lemmink, Johan Bijzet, Andor W J M Glaudemans, Reinhard Bos, Wouter Plattel, Maarten P van den Berg, Riemer H J A Slart, Hans L A Nienhuis, Dirk J van Veldhuisen, Bouke P C Hazenberg
OBJECTIVE: The clinical description of a novel TTR gene mutation characterized by a late onset amyloid cardiomyopathy. METHODS AND RESULTS: A 78-year-old man of Dutch origin with recent surgery for bilateral carpal tunnel syndrome (CTS) was admitted to our hospital because of heart failure with preserved ejection fraction (55%). Cardiac ultrasound showed thickened biventricular walls, and cardiac magnetic resonance imaging also showed late gadolinium enhancement...
April 18, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/28434346/refine-penetrance-estimates-in-the-main-pathogenic-variants-of-transthyretin-hereditary-familial-amyloid-polyneuropathy-ttr-fap-using-a-new-non-parametric-approach-npse
#15
Farida Gorram, Flora Alarcon, Hervé Perdry, Bérénice Hébrard, Thibaud Damy, Pascale Fanen, Benoît Funalot, Gregory Nuel, Violaine Planté-Bordeneuve
No abstract text is available yet for this article.
March 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28434329/de-novo-hereditary-familial-amyloid-polyneuropathy-fap-in-a-fap-liver-recipient
#16
Sarah Guttmann, Christoph Röcken, Martina Schmidt, Inga Grünewald, Andree Zibert, Jörg Stypmann, Matthias Schilling, Hartmut Schmidt
No abstract text is available yet for this article.
March 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28433926/discredited-legacy-stigma-and-familial-amyloid-polyneuropathy-in-northwestern-portugal
#17
Álvaro Mendes, Liliana Sousa, Jorge Sequeiros, Angus Clarke
RATIONALE: Genetic inherited conditions may result in feelings of stigmatisation, mainly because of visible physical appearance and its transmissibility to offspring. OBJECTIVE: This article reports accounts of stigmatisation from Portuguese patients affected by the inherited neurodegenerative disease, familial amyloid polyneuropathy (FAP), living in the largest cluster of patients worldwide. METHOD: We draw on semi-structured interviews conducted with individuals at-risk or affected by FAP, recruited through the national patients' association, about their experiences of stigmatisation related to the illness...
June 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28412068/vitreous-amyloidosis-ocular-systemic-and-genetic-insights
#18
Pradeep Venkatesh, Harathy Selvan, Sundararajan Baskar Singh, Divya Gupta, Seema Kashyap, Shreyas Temkar, Varun Gogia, Koushik Tripathy, Rohan Chawla, Rajpal Vohra
PURPOSE: To report the unique clinical and surgical characteristics encountered in eyes with vitreous amyloidosis. Systemic evaluation and visual outcome after vitrectomy are discussed. A novel mutation in the transthyretin gene (TTR) in Indian patients with familial amyloid polyneuropathy (FAP) is described. DESIGN: Retrospective, observational study. PARTICIPANTS: Ten eyes of 5 patients from 2 pedigrees with a diagnosis of vitreous amyloidosis...
April 12, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28393570/tafamidis-delays-disease-progression-in-patients-with-early-stage-transthyretin-familial-amyloid-polyneuropathy-additional-supportive-analyses-from-the-pivotal-trial
#19
Denis Keohane, Jeffrey Schwartz, Balarama Gundapaneni, Michelle Stewart, Leslie Amass
BACKGROUND: Tafamidis, a non-NSAID highly specific transthyretin stabilizer, delayed neurologic disease progression as measured by Neuropathy Impairment Score-Lower Limbs (NIS-LL) in an 18-month, double-blind, placebo-controlled randomized trial in 128 patients with early-stage transthyretin V30M familial amyloid polyneuropathy (ATTRV30M-FAP). The current post hoc analyses aimed to further evaluate the effects of tafamidis in delaying ATTRV30M-FAP progression in this trial. METHODS: Pre-specified, repeated-measures analysis of change from baseline in NIS-LL in this trial (ClinicalTrials...
April 10, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28333852/re-intervention-in-de-novo-vitreous-opacities-after-pars-plana-vitrectomy-in-familial-amyloidotic-polyneuropathy-ttr-val30metportuguese-patients
#20
Natália Novais Ferreira, David Afonso Cunha Dias, Rui Pedro Afonso Carvalho, Maria Teresa Pardal Monteiro Coelho
PURPOSE: To report management of de novo vitreous amyloid opacities after previous pars plana vitrectomy in familial amyloidotic polyneuropathy transthyretin Val30Met. METHODS: This work is a retrospective observational consecutive case series of five eyes of four patients. Demographic data, transthyretin mutation involved, age at the beginning of disease, duration of disease, treatment (liver transplant or tafamidis), time between vitrectomy and re-intervention, and ophthalmologic changes were evaluated...
March 22, 2017: Retinal Cases & Brief Reports
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