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Amyloid: the International Journal of Experimental and Clinical Investigation

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https://www.readbyqxmd.com/read/28494620/genetic-testing-improves-identification-of-transthyretin-amyloid-attr-subtype-in-cardiac-amyloidosis
#1
Emily E Brown, Yi Zhen Joan Lee, Marc K Halushka, Charles Steenbergen, Nicole M Johnson, Johana Almansa, Ryan J Tedford, Oscar Cingolani, Stuart D Russell, Kavita Sharma, Daniel P Judge
Amyloidosis is a group of conditions characterized by the accumulation of amyloid deposits in various tissues. Among these disorders, ATTR amyloidosis occurs either with or without a TTR pathogenic variant. Treatment for amyloidosis depends on the subtype, which is often identified through a tissue biopsy followed by liquid chromatography tandem mass spectrometry (LC-MS/MS). Genetic testing may be done to confirm these results for patients with ATTR amyloidosis; however, the necessity of genetic testing after LC-MS/MS has not been evaluated...
May 11, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28488941/a-v-block-as-presentation-of-cardiac-amyloid-prominent-infiltration-of-conduction-tissue-revealed-by-endomyocardial-biopsy
#2
Andrea Frustaci, Claudio Letizia, Francesco Adamo, Claudia Grande, Romina Verardo, Cristina Chimenti
No abstract text is available yet for this article.
May 10, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28485639/cathepsin-k-as-a-novel-amyloid-fibril-protein-in-humans
#3
Reinhold P Linke, Louise C Serpell, Friedrich Lottspeich, Mitsuyasu Toyoda
No abstract text is available yet for this article.
May 9, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28475415/transthyretin-amyloidosis-a-phenocopy-of-hypertrophic-cardiomyopathy
#4
Alexa M C Vermeer, Anneloes Janssen, Peter C Boorsma, Marcel M A M Mannens, Arthur A M Wilde, Imke Christiaans
OBJECTIVES: Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder that affects over one in 500 persons worldwide. The autosomal dominant transmission of HCM implies that many relatives are at risk for HCM associated morbidity and mortality, therefore genetic testing and counselling is of great importance. However, in only 50-60% of the patients a mutation is found, which hampers predictive genetic testing in relatives. In HCM patients in whom the causal mutation has not been identified (yet), phenocopies of HCM - i...
May 5, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28434267/amyloid-in-bone-marrow-smears-in-systemic-light-chain-amyloidosis
#5
Christoph Kimmich, Stefan Schönland, Sandra Kräker, Mindaugas Andrulis, Anthony D Ho, Gudrun Mayer, Tobias Dittrich, Michael Hundemer, Ute Hegenbart
We performed a prospective sensitivity analysis to detect amyloid in bone marrow (BM) smears stained with Congo red (CR) and according to Pappenheim of patients with systemic light-chain (AL) amyloidosis. Results were directly compared to routine BM histology and fat aspiration. We analysed 198 BM smears from patients with the diagnosis or suspicion of systemic AL amyloidosis. Ultimately, the diagnosis could be established for 168 patients. Amyloid was detected on BM smears with CR in 33% (56/168). All patients suspicious for amyloid on Pappenheim staining (n = 39) showed substantial amyloid infiltration on CR...
April 23, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28434259/establishing-and-validating-the-fluorescent-amyloid-ligand-h-ftaa-heptamer-formyl-thiophene-acetic-acid-to-identify-transthyretin-amyloid-deposits-in-carpal-tunnel-syndrome
#6
Katharina Hahn, K Peter R Nilsson, Per Hammarström, Peter Urban, Rolf Rüdiger Meliss, Hans-Michael Behrens, Sandra Krüger, Christoph Röcken
Transthyretin-derived (ATTR) amyloidosis is a frequent finding in carpal tunnel syndrome. We tested the following hypotheses: the novel fluorescent amyloid ligand heptameric formic thiophene acetic acid (h-FTAA) has a superior sensitivity for the detection of amyloid compared with Congo red-staining; Amyloid load correlates with patient gender and/or patient age. We retrieved 208 resection specimens obtained from 184 patients with ATTR amyloid in the carpal tunnel. Serial sections were stained with Congo red, h-FTAA and an antibody directed against transthyretin (TTR)...
April 23, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28413910/phenotypic-characterization-of-late-onset-cardiac-amyloidosis-caused-by-the-transthyretin-mutation-ttra45s-p-ala65ser
#7
Katrine M Müllertz, Steen Baerentzen, Henrik K Jensen, Henning Mølgaard
No abstract text is available yet for this article.
April 16, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28413892/amyloid-detection-in-the-transverse-carpal-ligament-of-patients-with-hereditary-attr-v30m-amyloidosis-and-carpal-tunnel-syndrome
#8
Raquel Samões, Ricardo Taipa, Kátia Valdrez, Isabel Gonçalves, Manuel Melo Pires, Ana Martins da Silva, Teresa Coelho
INTRODUCTION: Carpal tunnel syndrome (CTS) is a nonspecific manifestation of hereditary ATTR amyloidosis (ATTRm). Amyloid deposition of wild-type TTR (WT-ATTR) has been found in transverse carpal ligament (TCL) in idiopathic CTS. We retrospectively studied a group of patients with ATTRm and CTS submitted to carpal tunnel release surgery (CTRS). METHODS: From the nerve conduction studies performed in our Clinical Unit dedicated to hereditary amyloidosis between July 2009 and October 2013, we selected patients who fulfilled neurophysiological criteria for CTS, had been submitted to CTRS and whose TCL was available for pathology...
April 16, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28393636/tocilizumab-postpones-the-start-of-hemodialysis-compared-to-conventional-oral-treatment-in-amyloid-a-amyloidosis-patients-with-advanced-renal-insufficiency-by-suppressing-serum-saa-levels
#9
Hiroshi Uda, Osamu Saiki
No abstract text is available yet for this article.
April 10, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28393633/csp-1103-chf5074-stabilizes-human-transthyretin-in-healthy-human-subjects
#10
Lixia Qiang, Yanxia Guan, Xiangshun Li, Li Liu, Yanshuang Mu, Aki Sugano, Yutaka Takaoka, Toshiyuki Sakaeda, Bruno P Imbimbo, Ken-Ichi Yamamura, Shoude Jin, Zhenghua Li
Hereditary amyloid polyneuropathy is a type of protein misfolding disease. Transthyretin (TTR) is a homotetrameric serum protein and TTR tetramer dissociation is the limiting step in amyloid fibril formation. Thus, prevention of TTR dissociation is a promising therapeutic approach and some TTR stabilizers have been approved for the treatment of TTR amyloidosis. CSP-1103 (CHF5074) is a non-steroidal anti-inflammatory derivative that lacks cyclooxygenase inhibitory activity. In vitro, CSP-1103 stabilizes the TTR tetramer by binding to the thyroxine (T4) binding site...
April 10, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28393574/transbronchial-biopsies-safely-diagnose-amyloid-lung-disease
#11
Praveen Govender, Colleen M Keyes, Elizabeth A Hankinson, Carl J O'Hara, Vaishali Sanchorawala, John L Berk
BACKGROUND: Autopsy identifies lung involvement in 58-92% of patients with the most prevalent forms of systemic amyloidoses. In the absence of lung biopsies, amyloid lung disease often goes unrecognized. Report of a death following transbronchial biopsies in a patient with systemic amyloidosis cautioned against the procedure in this patient cohort. We reviewed our experience with transbronchial biopsies in patients with amyloidosis to determine the safety and utility of bronchoscopic lung biopsies...
April 10, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
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
#12
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/28393569/hereditary-amyloid-polyneuropathy-related-destructive-arthropathy-in-a-hip-joint
#13
Shunichi Sato, Hifumi Seki, Shu-Ichi Ikeda
No abstract text is available yet for this article.
April 10, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28393556/tht-101-a-primer-on-the-use-of-thioflavin-t-to-investigate-amyloid-formation
#14
Kirsten Gade Malmos, Luis M Blancas-Mejia, Benedikt Weber, Johannes Buchner, Marina Ramirez-Alvarado, Hironobu Naiki, Daniel Otzen
Thioflavin T (ThT) has been widely used to investigate amyloid formation since 1989. While concerns have recently been raised about its use as a probe specific for amyloid, ThT still continues to be a very valuable tool for studying kinetic aspects of fibrillation and associated inhibition mechanisms. This review aims to provide a conceptual instruction manual, covering appropriate considerations and pitfalls related to the use of ThT. We start by giving a brief introduction to amyloid formation with focus on the morphology of different aggregate species, followed by a discussion of the quality of protein needed to obtain reliable fibrillation data...
April 10, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28393577/pseudo-homozygous-mutation-due-to-a-primer-site-polymorphism-in-hereditary-attr-amyloidosis-a-pitfall-of-pcr-based-genetic-testing
#15
Yuka Shibata, Masaaki Matsushima, Ichiro Yabe, Koichiro Matsuda, Azusa Nagai, Takahiro Kano, Takahiro Yamada, Yoshiki Sekijima, Hidenao Sasaki
No abstract text is available yet for this article.
April 8, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28330375/complex-p-t88n-w130r-mutation-in-the-lysozyme-gene-leading-to-hereditary-lysozyme-amyloidosis-with-biopsy-proven-cardiac-involvement
#16
Brett W Sperry, Angela Dispenzieri, Asad Ikram, Martha Grogan, Jason D Theis, Nelson Leung, W Edward Highsmith, Joseph J Maleszewski, Mazen Hanna
No abstract text is available yet for this article.
March 22, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28434374/cardiac-amyloid-imaging-with-18-f-florbetaben-positron-emission-tomography-a-pilot-study
#17
W Phillip Law, William Wang, Peter Moore, Peter Mollee, Arnold Ng
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/28434373/thermal-shift-assay-for-evaluation-of-transthyretin-stability-in-plasma
#18
Lutz Fleischhauer, Christoph Niemietz, Sara Reinartz Groba, Paula Ballmaier, Vanessa Sauer, Sarah Guttmann, Andree Zibert, 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/28434372/doxycycline-tauroursodeoxycholic-acid-treatment-effects-in-the-heart-of-a-transthyretin-v30m-transgenic-mouse-model
#19
Cristina Teixeira, Susete Costelha, Helena Sofia Martins, Anabela Teixeira, Maria João Saraiva
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/28434371/immunoparesis-in-newly-diagnosed-al-amyloidosis-is-a-marker-for-response-and-survival
#20
Eli Muchtar, Angela Dispenzieri, Shaji K Kumar, Francis K Buadi, Martha Q Lacy, Steven Zeldenrust, Suzanne R Hayman, Nelson Leung, Taxiarchis V Kourelis, Wilson Gonsalves, Rajshekhar Chakraborty, Steven Russell, David Dingli, John A Lust, Yi Lin, Prashant Kapoor, Ronald Go, Robert A Kyle, S Vincent Rajkumar, Morie A Gertz
No abstract text is available yet for this article.
March 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
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