keyword
MENU ▼
Read by QxMD icon Read
search

amyloid neuropathies

keyword
https://www.readbyqxmd.com/read/27879149/increasing-amount-of-amyloid-are-associated-with-the-severity-of-clinical-features-in-hereditary-gelsolin-agel-amyloidosis
#1
Tiia Pihlamaa, Sinikka Suominen, Sari Kiuru-Enari, Maarit Tanskanen
BACKGROUND: Patients with hereditary gelsolin (AGel) amyloidosis (HGA) present with hanging skin (cutis laxa) and bilateral cranial neuropathy, and require symptomatic plastic surgery. Our clinical observation of tissue fragility prompted us to design a prospective study. METHODS: Twenty-nine patients with HGA undergoing surgery were interviewed and clinically examined. The height and thickness of skin folds in standard anatomical localizations were measured. The presence and distribution of amyloid in skin samples were analyzed using Congo red staining and immunohistochemistry using antibodies against gelsolin amyloid (AGel) subunit...
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
#2
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/27866733/review-of-the-literature-articles-published-in-the-last-five-years-that-have-changed-my-daily-practice
#3
REVIEW
E Delmont
Over the last five years, the management of peripheral neuropathies has become structured by the publication of recognized diagnostic criteria for inflammatory neuropathies and the elaboration of a function score, the R-ODS, used to evaluate the progression of these neuropathies. The concept of nodo-paranodopathy has enriched the concept of peripheral neuropathies, over-riding the classical mechanisms of axonal and demyelinating mechanisms. The structures of the nodes of Ranvier, gangliosides, contractin and neurofascin are preferential targets for auto-antibodies responsible for dysimmune neuropathies...
November 17, 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27866730/hereditary-neuropathies-an-update
#4
REVIEW
T Stojkovic
Hereditary neuropathies are the most common inherited neuromuscular diseases. Charcot-Marie-Tooth (CMT) disease represents the most common form with an average prevalence ranging from 1/2500 to 1/1200, depending on the studies. To date and with the advances of the latest generation sequencing, more than 80 genes have been identified. Although the common clinical phenotype comprises a progressive distal muscle weakness and sensory loss, foot deformities and decreased or absent tendon reflexes, clinical and electrophysiological phenotypes exhibit great variability...
November 17, 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27794111/schwann-cell-and-endothelial-cell-damage-in-transthyretin-familial-amyloid-polyneuropathy
#5
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
#6
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/27784877/an-autopsy-case-of-leptomeningeal-amyloidosis-associated-with-transthyretin-gly47arg-mutation
#7
Takuya Uehara, Keita Kakuda, Hisae Sumi-Akamaru, Amane Yamauchi, Hideki Mochizuki, Takashi Naka
We report the case of a 47-year-old woman with a 4-year history of progressive numbness in the distal portions of both her lower limbs, diarrhea alternating with periods of constipation, and orthostatic syncope. She demonstrated sensory dominant neuropathy and dysautonomia including orthostatic hypotension, paralytic ileus, and urinary retention. A systemic mutation analysis revealed a G47R mutation in transthyretin (TTR). Her general condition was so poor that we could not perform active treatment. Her consciousness had been impaired for a few months...
November 29, 2016: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/27730358/mri-of-pathology-proven-peripheral-nerve-amyloidosis
#8
Gavin A McKenzie, Stephen M Broski, Benjamin M Howe, Robert J Spinner, Kimberly K Amrami, Angela Dispenzieri, Michael D Ringler
OBJECTIVE: To highlight the MRI characteristics of pathologically proven amyloidosis involving the peripheral nervous system (PNS) and determine the utility of MRI in directing targeted biopsy for aiding diagnosis. MATERIALS AND METHODS: A retrospective study was performed for patients with pathologically proven PNS amyloidosis who also underwent MRI of the biopsied or excised nerve. MRI signal characteristics, nerve morphology, associated muscular denervation changes, and the presence of multifocal involvement were detailed...
October 12, 2016: Skeletal Radiology
https://www.readbyqxmd.com/read/27720612/adaptation-to-stressors-by-systemic-protein-amyloidogenesis
#9
Timothy E Audas, Danielle E Audas, Mathieu D Jacob, J J David Ho, Mireille Khacho, Miling Wang, J Kishan Perera, Caroline Gardiner, Clay A Bennett, Trajen Head, Oleksandr N Kryvenko, Mercé Jorda, Sylvia Daunert, Arun Malhotra, Laura Trinkle-Mulcahy, Mark L Gonzalgo, Stephen Lee
The amyloid state of protein organization is typically associated with debilitating human neuropathies and is seldom observed in physiology. Here, we uncover a systemic program that leverages the amyloidogenic propensity of proteins to regulate cell adaptation to stressors. On stimulus, cells assemble the amyloid bodies (A-bodies), nuclear foci containing heterogeneous proteins with amyloid-like biophysical properties. A discrete peptidic sequence, termed the amyloid-converting motif (ACM), is capable of targeting proteins to the A-bodies by interacting with ribosomal intergenic noncoding RNA (rIGSRNA)...
October 24, 2016: Developmental Cell
https://www.readbyqxmd.com/read/27671053/liver-transplantation-in-transthyretin-amyloidosis-characteristics-and-management-related-to-kidney-disease
#10
Ana Rocha, Luísa Lobato
Orthotopic liver transplantation (LT) was implemented as the inaugural disease-modifying therapy for hereditary transthyretin (ATTR) amyloidosis, a systemic amyloidosis mainly affecting the peripheral nervous system and heart. The first approach to pharmacologic therapy was focused on the stabilization of the TTR tetramer; following that new advent LT was assumed as the second step of treatment, for those patients whose neuropathy becomes worse after a course of pharmacologic therapy. The renal disease has been ignored in hereditary ATTR amyloidosis...
September 14, 2016: Transplantation Reviews
https://www.readbyqxmd.com/read/27663057/familial-amyloid-polyneuropathy-when-does-it-stop-to-be-asymptomatic-and-need-a-treatment
#11
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/27591966/tlr4-is-a-link-between-diabetes-and-alzheimer-s-disease
#12
Nan-Qu Huang, Hai Jin, Shao-Yu Zhou, Jing-Shan Shi, Feng Jin
Recently, more and more studies have shown that there is an essential link between diabetes mellitus (DM) and Alzheimer's disease (AD). In addition, innate immunity plays an important role in the occurrence and development of DM and AD, which increase the risk of developing type 2 diabetes (T2D) and AD. Although the pathogenesis of those diseases is still a matter of debate, the important role of Toll-like receptor 4 (TLR4) in the two diseases has been receiving much attention at present. TLR4 and insulin resistance do have close ties, and chronic TLR4 activation may contribute to the insulin resistance...
January 1, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/27589730/a-new-folding-kinetic-mechanism-for-human-transthyretin-and-the-influence-of-the-amyloidogenic-v30m-mutation
#13
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...
2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27588448/rare-variants-in-mme-encoding-metalloprotease-neprilysin-are-linked-to-late-onset-autosomal-dominant-axonal-polyneuropathies
#14
Michaela Auer-Grumbach, Stefan Toegel, Maria Schabhüttl, Daniela Weinmann, Catharina Chiari, David L H Bennett, Christian Beetz, Dennis Klein, Peter M Andersen, Ilka Böhme, Regina Fink-Puches, Michael Gonzalez, Matthew B Harms, William Motley, Mary M Reilly, Wilfried Renner, Sabine Rudnik-Schöneborn, Beate Schlotter-Weigel, Andreas C Themistocleous, Jochen H Weishaupt, Albert C Ludolph, Thomas Wieland, Feifei Tao, Lisa Abreu, Reinhard Windhager, Manuela Zitzelsberger, Tim M Strom, Thomas Walther, Steven S Scherer, Stephan Züchner, Rudolf Martini, Jan Senderek
Axonal polyneuropathies are a frequent cause of progressive disability in the elderly. Common etiologies comprise diabetes mellitus, paraproteinaemia, and inflammatory disorders, but often the underlying causes remain elusive. Late-onset axonal Charcot-Marie-Tooth neuropathy (CMT2) is an autosomal-dominantly inherited condition that manifests in the second half of life and is genetically largely unexplained. We assumed age-dependent penetrance of mutations in a so far unknown gene causing late-onset CMT2. We screened 51 index case subjects with late-onset CMT2 for mutations by whole-exome (WES) and Sanger sequencing and subsequently queried WES repositories for further case subjects carrying mutations in the identified candidate gene...
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27570551/peripheral-blood-cell-gene-expression-diagnostic-for-identifying-symptomatic-transthyretin-amyloidosis-patients-male-and-female-specific-signatures
#15
Sunil M Kurian, Marta Novais, Thomas Whisenant, Terri Gelbart, Joel N Buxbaum, Jeffery W Kelly, Teresa Coelho, Daniel R Salomon
BACKGROUND: Early diagnosis of familial transthyretin (TTR) amyloid diseases remains challenging because of variable disease penetrance. Currently, patients must have an amyloid positive tissue biopsy to be eligible for disease-modifying therapies. Endomyocardial biopsies are typically amyloid positive when cardiomyopathy is suspected, but this disease manifestation is generally diagnosed late. Early diagnosis is often difficult because patients exhibit apparent symptoms of polyneuropathy, but have a negative amyloid biopsy...
2016: Theranostics
https://www.readbyqxmd.com/read/27527836/immunoglobulin-light-chain-amyloidosis-2016-update-on-diagnosis-prognosis-and-treatment
#16
Morie A Gertz
DISEASE OVERVIEW: Immunoglobulin light chain amyloidosis is a clonal, nonproliferative plasma cell disorder in which fragments of immunoglobulin light chain are deposited in tissues. Clinical features depend on organs involved but can include restrictive cardiomyopathy, nephrotic syndrome, hepatic failure, peripheral/autonomic neuropathy, and atypical multiple myeloma. DIAGNOSIS: Tissue biopsy stained with Congo red demonstrating amyloid deposits with applegreen birefringence is required for diagnosis...
September 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27522614/heart-failure-complicated-by-alveolar-hemorrhage-due-to-vascular-collapse-and-amyloid-deposits-in-wild-type-transthyretin-amyloidosis
#17
Yasutoshi Kido, Masao Takahashi, Nobuaki Fukuma, Takayuki Kawata, Atsushi Tanaka, Akimasa Hayashi, Junji Shibahara, Masao Daimon, Hiroyuki Morita, Hiroshi Akazawa, Issei Komuro
The main clinical manifestations of wild-type transthyretin (TTR)-related amyloidosis are progressive heart failure and neuropathy. There have been some reports on cerebral hemorrhage due to cerebral amyloid angiopathy in patients with TTR-related amyloidosis, but little is known about the vascular involvement in other organs. A 77-year-old woman experienced heart failure and was admitted for deteriorating heart failure status. Echocardiography showed diffuse hypokinesis of the left ventricle with biventricular wall thickness...
August 13, 2016: Cardiology
https://www.readbyqxmd.com/read/27494299/early-intervention-with-tafamidis-provides-long-term-5-5-year-delay-of-neurologic-progression-in-transthyretin-hereditary-amyloid-polyneuropathy
#18
Márcia Waddington Cruz, Leslie Amass, Denis Keohane, Jeffrey Schwartz, Huihua Li, Balarama Gundapaneni
: Transthyretin hereditary amyloid polyneuropathy, also traditionally known as transthyretin familial amyloid polyneuropathy (ATTR-FAP), is a rare, relentless, fatal hereditary disorder. Tafamidis, an oral, non-NSAID, highly specific transthyretin stabilizer, demonstrated safety and efficacy in slowing neuropathy progression in early-stage ATTRV30M-FAP in a 1.5-year, randomized, double-blind, placebo-controlled trial, and 1-year open-label extension study, with a second long-term open-label extension study ongoing...
August 5, 2016: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/27488522/structural-basis-for-induction-of-peripheral-neuropathy-by-microtubule-targeting-cancer-drugs
#19
Jennifer A Smith, Barbara S Slusher, Krystyna M Wozniak, Mohamed H Farah, Gregoriy Smiyun, Leslie Wilson, Stuart Feinstein, Mary Ann Jordan
Peripheral neuropathy is a serious, dose-limiting side effect of cancer treatment with microtubule-targeting drugs. Symptoms present in a "stocking-glove" distribution, with longest nerves affected most acutely, suggesting a length-dependent component to the toxicity. Axonal transport of ATP-producing mitochondria along neuronal microtubules from cell body to synapse is crucial to neuronal function. We compared the effects of the drugs paclitaxel and ixabepilone that bind along the lengths of microtubules and the drugs eribulin and vincristine that bind at microtubule ends, on mitochondrial trafficking in cultured human neuronal SK-N-SH cells and on axonal transport in mouse sciatic nerves...
September 1, 2016: Cancer Research
https://www.readbyqxmd.com/read/27422379/clinical-measures-in-transthyretin-familial-amyloid-polyneuropathy
#20
Teresa Coelho, Aaron Vinik, Etta J Vinik, Tara Tripp, Jeff Packman, Donna R Grogan
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...
July 16, 2016: Muscle & Nerve
keyword
keyword
67047
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"