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Amyloid: the International Journal of Experimental and Clinical Investigation

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https://www.readbyqxmd.com/read/30638075/sudoscan-in-the-evaluation-and-follow-up-of-patients-and-carriers-with-ttr-mutations-experience-from-an-italian-centre
#1
Marco Luigetti, Giulia Bisogni, Angela Romano, Andrea Di Paolantonio, Francesco Barbato, Giulia Primicerio, Paolo Maria Rossini, Serenella Servidei, Mario Sabatelli
OBJECTIVE: To evaluate the utility of Sudoscan as possible marker of disease progression and disease onset in a cohort of hereditary ATTR amyloidosis (hATTR amyloidosis) polyneuropathy patients and carriers. PATIENTS AND METHODS: We regularly performed different clinical scales, nerve conductions studies (NCS), and Sudoscan on a cohort of hATTR amyloidosis patients and carriers from a single centre of central Italy, a non-endemic area, in the last 2 years. RESULTS: About 18 hATTR amyloidosis patients and 8 asymptomatic carriers were enrolled...
January 14, 2019: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30632809/cause-of-death-analysis-and-temporal-trends-in-survival-after-liver-transplantation-for-transthyretin-familial-amyloid-polyneuropathy
#2
Vincent Algalarrondo, Teresa Antonini, Marie Théaudin, Denis Chemla, Anouar Benmalek, Denis Castaing, Cécile Cauquil, François Rouzet, Delphine Mika, Eric Duong, Sylvie Dinanian, Ludivine Eliahou, Dominique Le Guludec, Didier Samuel, David Adams, Michel S Slama
BACKGROUND: Hereditary transthyretin amyloidosis (ATTR) is a multisystemic disease involving mainly the peripheral nervous system and the heart. Liver transplantation (LT) is the reference treatment for ATTR neuropathy and preoperative detection of high risk patients is crucial. We aimed to document the causes of death of ATTR patients after LT, their temporal trends, and to evaluate whether the available preoperative tools that predict the risk of death after LT for hereditary ATTR amyloidosis matched with these trends...
January 11, 2019: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30614283/amyloid-nomenclature-2018-recommendations-by-the-international-society-of-amyloidosis-isa-nomenclature-committee
#3
Merrill D Benson, Joel N Buxbaum, David S Eisenberg, Giampaolo Merlini, Maria J M Saraiva, Yoshiki Sekijima, Jean D Sipe, Per Westermark
The nomenclature committee of the International Society of Amyloidosis (ISA) meets every second year to discuss and formulate recommendations. The conclusions from the discussion at the XVI International Symposium on Amyloidosis in Kumamoto, Japan, 25-29 March 2018 and afterwards are summarized in this Nomenclature Article. From having recommended the use of the designation "amyloid fibril" for in vivo material only, ISA's nomenclature committee now accepts its use more broadly following the international scientific literature...
January 7, 2019: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30572722/epidemiology-of-attrv30m-neuropathy-in-cyprus-and-the-modifier-effect-of-complement-c1q-on-the-age-of-disease-onset
#4
Savanna Andreou, Elena Panayiotou, Kyriaki Michailidou, Panayiota Pirpa, Andreas Hadjisavvas, Adonis El Salloukh, Daniel Barnes, Antonis Antoniou, Petros Agathangelou, Katia Papastavrou, Kyproula Christodoulou, George A Tanteles, Theodoros Kyriakides
BACKGROUND: ATTRV30M amyloidosis is a lethal autosomal dominant sensorimotor and autonomic neuropathy caused by amyloid deposition composed of aggregated misfolded TTR monomers with the V30M mutation. The age of onset in patients with ATTRV30M varies in different foci and the mechanism behind it is still unknown. METHODS: The tertiary neurology center following all ATTRV30M patients in Cyprus was used to collect demographic data to estimate; prevalence, incidence, penetrance, anticipation, time from disease onset to diagnosis and transplantation...
December 20, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30513220/haematological-response-and-overall-survival-in-two-consecutive-dutch-patient-cohorts-with-al-amyloidosis-diagnosed-between-2008-and-2016
#5
Karlijn H G Rutten, Reinier A P Raymakers, Bouke P C Hazenberg, Hans L A Nienhuis, Edo Vellenga, Monique C Minnema
BACKGROUND: Although survival has improved in recent decades, the short-term prognosis of patients with immunoglobulin light chain (AL) amyloidosis remains grim. We aimed to assess overall survival (OS) of AL amyloidosis patients by comparing cohorts in two consecutive time periods. METHODS: Data were collected and compared on 126 patients from two tertiary referral centres in The Netherlands during the time periods 2008-2012 and 2013-2016. RESULTS: There was a non-significant trend to improved 6-month OS in the last cohort (78% vs...
December 4, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30388377/diflunisal-tolerability-in-transthyretin-cardiac-amyloidosis-a-single-center-s-experience
#6
Asad Ikram, Joseph P Donnelly, Brett W Sperry, Christy Samaras, Jason Valent, Mazen Hanna
OBJECTIVE: Transthyretin (ATTR) amyloidosis is an under-recognized, progressive disease manifesting as cardiomyopathy and/or polyneuropathy. Diflunisal, a nonsteroidal anti-inflammatory drug (NSAID), has demonstrated transthyretin stabilization in vitro and slowing of polyneuropathy progression in the hereditary ATTR subtype (ATTRm). However, the use of diflunisal has only been described in a small cohort of patients with ATTR cardiac amyloidosis (CA). We hypothesized that selected patients with ATTR-CA, both hereditary and wild-type (ATTRwt), would tolerate diflunisal with limited adverse events...
November 2, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30350721/duodenal-amyloid-a-depositions-in-a-patient-with-refractory-hodgkin-s-lymphoma-an-old-complication-in-the-modern-treatment-era
#7
Adir Shaulov, Diana Prus, David Lavie, Shlomo Elias
No abstract text is available yet for this article.
October 23, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30193540/progressive-axonal-polyneuropathy-in-a-mitochondrial-disorder-an-uncommon-association-with-familial-amyloid-neuropathy
#8
Marco Luigetti, Guido Primiano, Giulia Bisogni, Cristina Cuccagna, Rosalba Carrozzo, Laura Obici, Daniela Bernardo, Cristina Sancricca, Serenella Servidei
No abstract text is available yet for this article.
September 7, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30193539/peak-v-o-2-is-an-independent-predictor-of-survival-in-patients-with-cardiac-amyloidosis
#9
Selina Hein, Fabian Aus Dem Siepen, Ralf Bauer, Hugo A Katus, Arnt V Kristen
INTRODUCTION: Cardiopulmonary exercise testing (CPET) has repeatedly been reported to reliably predict adverse outcomes in different forms of heart failure. However, it has not been elucidated in detail in cardiac amyloidosis (CA). Therefore, we evaluated the predictive value of CPET parameters in patients with CA regarding disease severity and prediction of mortality. METHODS: Twenty-seven consecutive patients with CA were assessed noninvasively, including electrocardiography, echocardiography, CPET, and laboratory tests...
September 7, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30193533/right-ventricular-involvement-in-transthyretin-amyloidosis
#10
Sandra Arvidsson, Michael Y Henein, Gerhard Wikström, Ole B Suhr, Per Lindqvist
BACKGROUND: The extent of right ventricular (RV) involvement in transthyretin amyloidosis (ATTR) is unknown. OBJECTIVES: This study sought to establish the degree of RV involvement in ATTR amyloidosis, and compare findings with RV involvement in hypertrophic cardiomyopathy (HCM). METHODS: Forty-two patients with ATTR amyloidosis and echocardiographic evidence of cardiac amyloidosis (cardiac ATTR), 19 ATTR patients with normal left ventricular (LV) wall thickness (non-cardiac ATTR), 25 patients with diagnosed HCM and 30 healthy controls were included in this study...
September 7, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30486688/polymorph-specific-distribution-of-binding-sites-determines-thioflavin-t-fluorescence-intensity-in-%C3%AE-synuclein-fibrils
#11
Arshdeep Sidhu, Jonathan Vaneyck, Christian Blum, Ine Segers-Nolten, Vinod Subramaniam
Thioflavin-T (ThT) is the most commonly used fluorescent dye for following amyloid formation semi-quantitatively in vitro, specifically probing the fibrillar cross-β-sheet content. In recent years, structural polymorphism of amyloid fibrils has been shown to be an important aspect of amyloid formation, both in vitro and in neurodegenerative diseases. Therefore, understanding ThT-amyloid interactions in the context of structural polymorphism of amyloids is necessary for correct interpretation of ThT fluorescence data...
September 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30486687/origin-of-sporadic-late-onset-hereditary-attr-val30met-amyloidosis-in-japan
#12
Mitsuharu Ueda, Taro Yamashita, Yohei Misumi, Teruaki Masuda, Yukio Ando
Hereditary transthyretin (ATTRm) amyloidosis, formerly known as familial amyloid polyneuropathy, is a major type of hereditary systemic amyloidosis, in which the disease is caused by mutant transthyretin (TTR). Although more than 140 different point mutations have been identified in the TTR gene, ATTRm amyloidosis patients with the TTR Val30Met mutation are most frequently found worldwide. Interestingly, the onset age of the ATTR Val30Met amyloidosis is highly varied among countries and regions. The reason for these differences in onset age and penetrance remains to be elucidated...
September 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30486686/quantitation-of-99m-tc-dpd-uptake-in-patients-with-transthyretin-related-cardiac-amyloidosis
#13
James C Ross, David F Hutt, Maria Burniston, Joanne Page, Jennifer A Steeden, Julian D Gillmore, Ashutosh D Wechalekar, Philip N Hawkins, Marianna Fontana
PURPOSE: Transthyretin (ATTR) amyloidosis is a rare but serious infiltrative disease associated with a wide spectrum of morphologic and functional cardiac involvement. 99m Tc-labelled 3,3-diphosphono-1,2-propanodicarboxylic acid (DPD), initially developed as a bone-seeking radiotracer, is remarkably sensitive for imaging cardiac ATTR amyloid deposits. Our aim was to investigate the feasibility and utility of estimating 99m Tc-DPD uptake in myocardial tissue; this has the potential to yield reliable quantitative information on cardiac amyloid burden, which is urgently required to monitor disease progression and response to novel treatments...
September 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30169971/seven-factors-predict-a-delayed-diagnosis-of-cardiac-amyloidosis
#14
Eve Bishop, Emily E Brown, Johana Fajardo, Lili A Barouch, Daniel P Judge, Marc K Halushka
INTRODUCTION: Diagnostic delay of cardiac amyloidosis (CAm) continues to challenge clinicians. We investigated features associated with delay and ascertained if a diagnostic delay had negative implications for the patient. METHODS: We performed a retrospective chart review identifying 82 subjects with biopsy-proven and mass-spectrometry-identified CAm with clinical and epidemiologic data including first potential symptom of amyloidosis. Pathology slides were scored for extent of amyloid...
September 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30032658/a-library-of-attr-amyloidosis-patient-specific-induced-pluripotent-stem-cells-for-disease-modelling-and-in-vitro-testing-of-novel-therapeutics
#15
Richard M Giadone, Jessica D Rosarda, Prithvi Reddy Akepati, Arianne C Thomas, Batbold Boldbaatar, Marianne F James, Andrew A Wilson, Vaishali Sanchorawala, Lawreen H Connors, John L Berk, R Luke Wiseman, George J Murphy
Hereditary transthyretin amyloidosis (ATTR amyloidosis) is an autosomal dominant protein-folding disorder caused by over 100 distinct mutations in the transthyretin (TTR) gene. In ATTR amyloidosis, protein secreted from the liver aggregates and forms amyloid fibrils in downstream target organs, chiefly the heart and peripheral nervous system. Few animal models of ATTR amyloidosis exist and none recapitulate the multisystem complexity and clinical variability associated with disease pathogenesis in patients...
September 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30169969/hereditary-transthyretin-amyloidosis-baseline-characteristics-of-patients-in-the-neuro-ttr-trial
#16
Marcia Waddington-Cruz, Elizabeth J Ackermann, Michael Polydefkis, Stephen B Heitner, Peter J Dyck, Fabio A Barroso, Annabel K Wang, John L Berk, P James B Dyck, Brett P Monia, Steven G Hughes, Li Tai, T Jesse Kwoh, Shiangtung W Jung, Teresa Coelho, Merrill D Benson, Morie A Gertz
BACKGROUND: Hereditary transthyretin (ATTRm) amyloidosis is a rare, progressive and fatal disease with a range of clinical manifestations. OBJECTIVE: This study comprehensively evaluates disease characteristics in a large, diverse cohort of patients with ATTRm amyloidosis. METHODS: Adult patients (N = 172) with Stage 1 or Stage 2 ATTRm amyloidosis who had polyneuropathy were screened and enrolled across 24 investigative sites and 10 countries in the NEURO-TTR trial ( www...
August 31, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30039724/a-case-of-transthyretin-amyloidosis-with-myopathy-neuropathy-and-cardiomyopathy-resulting-from-an-exceedingly-rare-mutation-transthyretin-ala120ser-c-418g-t-p-ala140ser
#17
Kavisha Patel, Clement Tagoe, Phyllis Bieri, Karen Weidenheim, James M Tauras
No abstract text is available yet for this article.
July 24, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30032653/patient-reported-distress-is-prevalent-in-systemic-light-chain-al-amyloidosis-but-not-determined-by-severity-of-disease
#18
Nicholas L Wright, Kathryn E Flynn, Ruta Brazauskas, Parameswaran Hari, Anita D'Souza
We conducted this retrospective study to assess patient-reported distress in light chain (AL) amyloidosis, using the Distress Thermometer (DT) survey at first evaluation at our center. Of 78 patients who completed the survey, 75 scored their distress (distress: <4 - low, 4-6 - moderate, >6 - high). Moderate and high distress were self-reported by 30% and 17% patients, respectively. More patients with distress lived alone and had lower haemoglobin than patients without. AL stage did not correlate with distress (Stage I/II median DT 4 compared to 3 in Stage III/IV, p = ...
July 21, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30032640/outcomes-of-patients-with-al-amyloidosis-and-low-serum-free-light-chain-levels-at-diagnosis
#19
Vina P Nguyen, Allison Rosenberg, Lisa M Mendelson, Raymond L Comenzo, Cindy Varga, Vaishali Sanchorawala
Serum free light chains (sFLC) are independent prognostic markers of disease in light chain (AL) amyloidosis, and are used in the haematologic response criteria for treatment. However, up to 20% of patients have low sFLCs at diagnosis, with a difference between involved and uninvolved free light chains (dFLC) of less than 50 mg/L, making responses to treatment difficult to evaluate. In order to characterize this distinct subgroup of patients, we retrospectively analyzed 123 AL amyloidosis patients with dFLC <50 mg/L who were diagnosed between 2002 and 2013...
July 21, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30032648/alan-s-cohen-1926-2018
#20
Martha Skinner, Per Westermark
No abstract text is available yet for this article.
June 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
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