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amyloid neuropathies

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https://www.readbyqxmd.com/read/28226286/peripheral-nerve-ultrasonography-in-patients-with-transthyretin-amyloidosis
#1
Simon Podnar, Stayko Sarafov, Ivailo Tournev, Gregor Omejec, Janez Zidar
OBJECTIVE: To systematically study peripheral nerve morphology in patients with transthyretin (TTR) amyloidosis and TTR gene mutation carriers using high-resolution ultrasonography (US). METHODS: In this prospective cross-sectional study we took a structured history, performed neurological examination, and measured peripheral nerve cross-sectional areas (CSAs) bilaterally at 28 standard locations using US. Demographic and US findings were compared to controls. RESULTS: Peripheral nerve CSAs were significantly larger in 33 patients with familial amyloid polyneuropathy (FAP) compared to 50 controls, most dramatically at the common entrapment sites (median nerve at the wrist, ulnar nerve at the elbow), and in the proximal nerve segments (median nerve in the upper arm, sciatic nerve in the thigh)...
January 29, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28217248/iatrogenic-amyloid-polyneuropathy-after-domino-liver-transplantation
#2
REVIEW
Diana Mnatsakanova, Saša A Živković
Liver transplantation has been used in treatment of transthyretin amyloidosis, and some patients undergo domino liver transplantation (DLT) with explanted liver being transplanted to another patient with liver failure as the liver is otherwise usually functionally normal. Until end of 2015, there were 1154 DLT performed worldwide. DLT for transthyretin amyloidosis is associated with the risk of developing de novo systemic amyloidosis and amyloid neuropathy, and the risk may be greater with some non-Val30Met mutations...
January 28, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28202889/treatment-of-transthyretin-familial-amyloid-polyneuropathy-with-tafamidis-a-case-report
#3
Yoshimichi Miyazaki
INTRODUCTION: Familial amyloid polyneuropathy (FAP) is a rare hereditary disorder caused by mutations in the transthyretin (TTR) gene. Tafamidis is a TTR stabilizer able to prevent TTR tetramer dissociation, and several studies have demonstrated its safety and efficacy at slowing the progression of neuropathy in FAP caused by the TTR Val30Met mutation. However, nerve conduction study (NCS) and electromyography (EMG) results have yet to be reported in relation to FAP progression during tafamidis therapy...
2017: Nihon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
https://www.readbyqxmd.com/read/28050656/the-recommendations-of-a-consensus-panel-for-the-screening-diagnosis-and-treatment-of-neurogenic-orthostatic-hypotension-and-associated-supine-hypertension
#4
REVIEW
Christopher H Gibbons, Peter Schmidt, Italo Biaggioni, Camille Frazier-Mills, Roy Freeman, Stuart Isaacson, Beverly Karabin, Louis Kuritzky, Mark Lew, Phillip Low, Ali Mehdirad, Satish R Raj, Steven Vernino, Horacio Kaufmann
Neurogenic orthostatic hypotension (nOH) is common in patients with neurodegenerative disorders such as Parkinson's disease, multiple system atrophy, pure autonomic failure, dementia with Lewy bodies, and peripheral neuropathies including amyloid or diabetic neuropathy. Due to the frequency of nOH in the aging population, clinicians need to be well informed about its diagnosis and management. To date, studies of nOH have used different outcome measures and various methods of diagnosis, thereby preventing the generation of evidence-based guidelines to direct clinicians towards 'best practices' when treating patients with nOH and associated supine hypertension...
January 3, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28049649/hereditary-lysozyme-amyloidosis-variant-p-leu102ser-associates-with-unique-phenotype
#5
Samih H Nasr, Surendra Dasari, John R Mills, Jason D Theis, Michael T Zimmermann, Rafael Fonseca, Julie A Vrana, Steven J Lester, Brooke M McLaughlin, Robert Gillespie, W Edward Highsmith, John J Lee, Angela Dispenzieri, Paul J Kurtin
Lysozyme amyloidosis (ALys) is a rare form of hereditary amyloidosis that typically manifests with renal impairment, gastrointestinal (GI) symptoms, and sicca syndrome, whereas cardiac involvement is exceedingly rare and neuropathy has not been reported. Here, we describe a 40-year-old man with renal impairment, cardiac and GI symptoms, and peripheral neuropathy. Renal biopsy specimen analysis revealed amyloidosis with extensive involvement of glomeruli, vessels, and medulla. Amyloid was also detected in the GI tract...
February 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28031222/the-chemokine-cxcl12-mediates-the-anti-amyloidogenic-action-of-painless-human-nerve-growth-factor
#6
Simona Capsoni, Francesca Malerba, Nicola Maria Carucci, Caterina Rizzi, Chiara Criscuolo, Nicola Origlia, Mariantonietta Calvello, Alessandro Viegi, Giovanni Meli, Antonino Cattaneo
Nerve growth factor is a therapeutic candidate for Alzheimer's disease. Due to its pain-inducing activity, in current clinical trials nerve growth factor is delivered locally into the brain by neurosurgery, but data on the efficacy of local nerve growth factor delivery in decreasing amyloid-β deposition are not available. To reduce the nerve growth factor pain-inducing side effects, thus avoiding the need for local brain injection, we developed human painless nerve growth factor (hNGFp), inspired by the human genetic disease hereditary sensory and autonomic neuropathy type V...
January 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28012171/mir-15b-mediates-oxaliplatin-induced-chronic-neuropathic-pain-through-bace1-down-regulation
#7
Naomi Ito, Atsushi Sakai, Noriko Miyake, Motoyo Maruyama, Hirotoshi Iwasaki, Koichi Miyake, Takashi Okada, Atsuhiro Sakamoto, Hidenori Suzuki
BACKGROUND AND PURPOSE: Although oxaliplatin is an effective anti-cancer platinum compound, it can cause painful chronic neuropathy, and its molecular mechanisms are poorly understood. MicroRNAs (miRNAs) are small non-coding RNAs that negatively regulate gene expression in a sequence-specific manner. Although miRNAs have been increasingly recognized as important modulators in a variety of pain conditions, their involvement in chemotherapy-induced neuropathic pain is unknown. EXPERIMENTAL APPROACH: Oxaliplatin-induced chronic neuropathic pain was induced in rats by i...
March 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28011000/baseline-characteristics-predict-the-presence-of-amyloid-on-endomyocardial-biopsy
#8
Van-Khue Ton, Aditya Bhonsale, Nisha A Gilotra, Marc K Halushka, Charles Steenbergen, Johana Almansa, Emily Brown, Ryan J Tedford, Ilan Wittstein, Kavita Sharma, Stuart D Russell, Daniel P Judge
BACKGROUND: Recent studies have suggested a high prevalence of cardiac amyloidosis (CAm) in heart failure (HF) patients. CAm might be underdiagnosed owing to low clinical suspicion. METHODS AND RESULTS: We performed retrospective analysis of 259 patients with HF and ejection fraction (EF) ≥50% referred for endomyocardial biopsy. Seventy-three (28%) had CAm. Multivariable independent predictors of CAm were identified. Over a mean follow-up of 2.6 ± 3.3 years, CAm patients had worse survival than those without (1...
December 20, 2016: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/27979324/amyloidosis-and-its-management-amyloid-neuropathies
#9
REVIEW
Kathleen Thornton Pearson, Scott Vota
No abstract text is available yet for this article.
September 2016: Current Problems in Cancer
https://www.readbyqxmd.com/read/27879149/increasing-amount-of-amyloid-are-associated-with-the-severity-of-clinical-features-in-hereditary-gelsolin-agel-amyloidosis
#10
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
#11
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
#12
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...
December 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27866730/hereditary-neuropathies-an-update
#13
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...
December 2016: Revue Neurologique
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...
November 22, 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/27784877/an-autopsy-case-of-leptomeningeal-amyloidosis-associated-with-transthyretin-gly47arg-mutation
#16
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
#17
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...
January 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/27720612/adaptation-to-stressors-by-systemic-protein-amyloidogenesis
#18
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
#19
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
#20
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
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