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    1041 results match your criteria Amyloid [Journal]

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    Primary adrenal insufficiency due to hereditary apolipoprotein AI amyloidosis: endocrine involvement beyond hypogonadism.
    Amyloid 2018 Feb 15:1-4. Epub 2018 Feb 15.
    a Department of Endocrinology and Nutrition , Hospital Clínic , Barcelona , Spain.
    Several mutations in the gene encoding apolipoprotein AI (apoAI) have been described as a cause of familial amyloidosis. Individuals with apoAI-derived (AApoAI) amyloidosis frequently manifest with liver, kidney, laryngeal, skin and myocardial involvement. Although primary hypogonadism (PH) is considered almost pathognomonic of this disease, until now, primary adrenal insufficiency (PAI) has not been described as a common clinical feature. Read More

    Monoclonal gammopathy of undetermined significance in systemic transthyretin amyloidosis (ATTR).
    Amyloid 2018 Feb 9:1-6. Epub 2018 Feb 9.
    a Amyloidosis Center , Boston University School of Medicine , Boston , MA , USA.
    Objective: To identify the prevalence of monoclonal gammopathy of undetermined significance (MGUS) in patients with transthyretin (ATTR) amyloidosis.

    Patients And Methods: We performed a retrospective analysis of patients with biopsy-proven ATTRwt (wild-type transthyretin amyloid protein) and genopositive ATTR V122I (valine-to-isoleucine substitution at position 122 of the TTR gene) amyloidosis evaluated at the Amyloidosis Center at Boston University and Boston Medical Center between 1 January 2003 and 31 December 2016.

    Results: There were a total of 226 patients with ATTRwt and ATTR V122I amyloidosis evaluated during the specified time frame with 155 and 71 patients in each cohort, respectively. Read More

    Normal scores of deep breathing tests: beware of dysrhythmia in transthyretin amyloidosis.
    Amyloid 2018 Feb 2:1-8. Epub 2018 Feb 2.
    c Department of Surgical and Perioperative Sciences, Clinical Physiology, Heart Centre , Umeå University , Umeå , Sweden.
    Background: The heart rate (HR) response to paced deep breathing (DB) is a common test of cardiac autonomic function, where high heart rate variability (HRV) is considered to reflect normal autonomic function. We evaluated the DB test in patients with hereditary transthyretin amyloid (ATTRm) amyloidosis, where autonomic dysregulation and atrial arrhythmias are common.

    Methods: Paced DB was performed during one minute (six breaths/min) in 165 recordings in adult ATTRm amyloidosis patients with the TTR Val30Met mutation, 42 hypertrophic cardiomyopathy (HCM) patients and 211 healthy subjects. Read More

    Reduced left atrial myocardial deformation irrespective of cavity size: a potential cause for atrial arrhythmia in hereditary transthyretin amyloidosis.
    Amyloid 2018 Jan 25:1-8. Epub 2018 Jan 25.
    a Public Health and Clinical Medicine , Umeå University , Umeå , Sweden.
    Background: Cardiac amyloidosis (CA) is a myocardial disease and commonly under-diagnosed condition. In CA patients, atrial fibrillation might occur in the absence of left atrial (LA) enlargement.

    Objectives: The aim of this study is to assess LA size and function, and its relationship with atrial arrhythmia in patients with hereditary transthyretin amyloidosis (ATTR). Read More

    Obesity is a significant susceptibility factor for idiopathic AA amyloidosis.
    Amyloid 2018 Jan 24:1-9. Epub 2018 Jan 24.
    a Department of Medicine V, Amyloidosis Center and Division of Hematology, Oncology and Rheumatology , University of Heidelberg , Heidelberg , Germany.
    Background: To investigate obesity as susceptibility factor in patients with idiopathic AA amyloidosis.

    Methods: Clinical, biochemical and genetic data were obtained from 146 patients with AA amyloidosis. Control groups comprised 40 patients with long-standing inflammatory diseases without AA amyloidosis and 56 controls without any inflammatory disease. Read More

    Psychopathological dimensions in subjects with hereditary ATTR V30M amyloidosis and their relation with life events due to the disease.
    Amyloid 2018 Jan 22:1-11. Epub 2018 Jan 22.
    a Serviço de Psiquiatria e Saúde Mental , Centro Hospitalar do Porto , Porto , Portugal.
    Background: Chronic physical illness has been associated with emotional distress. Chronic diseases may change usual family patterns with economic, social and family losses. Hereditary ATTR V30M amyloidosis is a rare, fatal inherited systemic amyloidosis, with chronic evolution and beginning in adulthood. Read More


    Treatment patterns and health care resource utilization among patients with relapsed/refractory systemic light chain amyloidosis.
    Amyloid 2018 Jan 5:1-7. Epub 2018 Jan 5.
    e Amyloidosis Center , Boston University School of Medicine and Boston Medical Center , Boston , MA , USA.
    Background: Treatment for patients with systemic light chain (AL) amyloidosis remains challenging. Our study aims to describe treatment patterns for both newly diagnosed and relapsed/refractory AL (RRAL) amyloidosis, and to assess clinical outcomes, healthcare costs, and resource utilization during the first year following a diagnosis of RRAL amyloidsis.

    Methods: This was a retrospective observational study of adult patients with AL amyloidosis using the US Optum administrative claims data during 1/1/2008 to 6/30/2015. Read More

    Right ventricular longitudinal strain: a tool for diagnosis and prognosis in light-chain amyloidosis.
    Amyloid 2017 Dec 20:1-8. Epub 2017 Dec 20.
    a Cardiology Department , CHU de Poitiers , Poitiers , France.
    Objectives: Light-chain (AL) amyloidosis can lead to an infiltrative cardiomyopathy with increased wall thickness (IWT) of very poor prognosis. Our primary aim was to analyse the right ventricle (RV) in patients with IWT to discriminate AL amyloidosis from IWT due to hypertrophic cardiomyopathy (HCM) or to arterial hypertension (HTN). Our secondary aim was to assess if RV dysfunction predicts overall mortality in cardiac AL amyloidosis. Read More

    Gastrointestinal perforation in light chain amyloidosis in the era of novel agent therapy - a case series and review of the literature.
    Amyloid 2017 Dec 14:1-7. Epub 2017 Dec 14.
    a Department of Haematology , Hadassah-Hebrew University Medical Center , Jerusalem , Israel.
    Gastrointestinal (GI) perforation is remarkably rare in patients with light chain (AL) amyloidosis and has not yet been reported in patients with AL amyloidosis treated with novel agents. Only 24 cases of GI perforation have previously been reported in the setting of AL amyloidosis of which 15 had available information in English. All 15 did not receive novel agent therapy and six died early after experiencing GI perforation. Read More

    First nationwide survey on systemic wild-type ATTR amyloidosis in Japan.
    Amyloid 2017 Nov 28:1-3. Epub 2017 Nov 28.
    c Department of Neurology , Graduate School of Medical Sciences, Kumamoto University , Kumamoto , Japan.
    Objective: A nationwide survey on systemic wild-type ATTR (ATTRwt) amyloidosis was conducted to elucidate the frequency, clinical picture and possible diagnostic issues of ATTRwt amyloidosis in Japan.

    Methods: A questionnaire was sent to 4629 clinical departments across Japan. A total of 2341 (50. Read More

    Prognostic impact of immunoparesis at diagnosis and after treatment onset in patients with light-chain amyloidosis.
    Amyloid 2017 Dec 20;24(4):245-252. Epub 2017 Oct 20.
    a Department of Hematology , Hospital Clínic of Barcelona, Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), University of Barcelona , Barcelona , Spain.
    Objectives: Immunoparesis (IP) is a risk factor associated with an unfavourable outcome in several plasma cell disorders. It has been suggested that its presence in light-chain (AL) amyloidosis could be associated with worse prognosis. However, the relevance of IP after treatment has not been evaluated to date. Read More

    Misidentification of transthyretin and immunoglobulin variants by proteomics due to methyl lysine formation in formalin-fixed paraffin-embedded amyloid tissue.
    Amyloid 2017 Dec 10;24(4):233-241. Epub 2017 Oct 10.
    a Wolfson Drug Discovery Unit, Centre for Amyloidosis and Acute Phase Proteins , University College London , London , UK.
    Proteomics is becoming the de facto gold standard for identifying amyloid proteins and is now used routinely in a number of centres. The technique is compound class independent and offers the added ability to identify variant and modified proteins. We re-examined proteomics results from a number of formalin-fixed paraffin-embedded amyloid samples, which were positive for transthyretin (TTR) by immunohistochemistry and proteomics, using the UniProt human protein database modified to include TTR variants. Read More


    Safety and efficacy of a TTR specific antisense oligonucleotide in patients with transthyretin amyloid cardiomyopathy.
    Amyloid 2017 Dec 14;24(4):219-225. Epub 2017 Sep 14.
    c Department of Cardiology , Indiana University School of Medicine , Indianapolis , IN , USA.
    Objectives: Cardiomyopathy is a major cause of death in both the hereditary form of transthyretin (TTR) amyloidosis and the sporadic late-age-onset transthyretin amyloidosis (ATTR wild-type (ATTR)). Clinically disease progression from time of diagnosis to death is usually quoted as 5- to 15-years. In prior studies, significant progression of cardiac parameters in patients with moderate to severe cardiomyopathy has been noted within a 12-month time span. Read More

    Hip and knee arthroplasty are common among patients with transthyretin cardiac amyloidosis, occurring years before cardiac amyloid diagnosis: can we identify affected patients earlier?
    Amyloid 2017 Dec 14;24(4):226-230. Epub 2017 Sep 14.
    a Clinical Cardiovascular Research Laboratory for the Elderly , Columbia University Medical Center, Allen Hospital of New York-Presbyterian Hospital , New York , NY , USA.
    Transthyretin cardiac amyloidosis (ATTR-CA) causes a restrictive cardiomyopathy in older adults, often diagnosed at advanced stages when emerging therapies in late phase clinical trials may not have clinical benefit. This investigation aimed to detect clinical entities that may provide more advanced warning of ATTR-CA. Since ATTR preferentially deposits in ligaments, tendons, and articular cartilage, we hypothesized that ATTR-CA patients have a greater prevalence of total hip (THA) and knee (TKA) arthroplasties compared with the general population, and that arthroplasty occurs significantly before ATTR-CA diagnosis. Read More

    Attitudes about when and how to treat patients with AL amyloidosis: an international survey.
    Amyloid 2017 Dec 31;24(4):213-216. Epub 2017 Aug 31.
    a Division of Hematology , Mayo Clinic , Rochester , MN , USA.
    The aim of this survey was to describe the treatment decision making of expert physicians in when and how to treat patients with AL amyloidosis. Fifty amyloid expert physicians completed the survey. Autologous stem cell transplant (ASCT) was considered the first line therapy, if medically feasible, by 73% of the physicians. Read More

    Novel pathologic scoring tools predict end-stage kidney disease in light chain (AL) amyloidosis.
    Amyloid 2017 Sep 31;24(3):205-211. Epub 2017 Jul 31.
    d Division of Nephrology, Department of Internal Medicine , Vanderbilt University Medical Center , Nashville , TN , USA.
    Background And Objectives: Light chain (AL) amyloidosis frequently involves the kidney, causing significant morbidity and mortality. A pathologic scoring system with prognostic utility has not been developed. We hypothesized that the extent of amyloid deposition and degree of scarring injury on kidney biopsy, could provide prognostic value, and aimed to develop pathologic scoring tools based on these features. Read More

    Long-term safety and efficacy of tafamidis for the treatment of hereditary transthyretin amyloid polyneuropathy: results up to 6 years.
    Amyloid 2017 Sep 31;24(3):194-204. Epub 2017 Jul 31.
    c Pfizer Inc , New York , NY , USA.
    Background: The objective of the present study was to evaluate the long-term safety and efficacy of tafamidis in treating hereditary transthyretin amyloid polyneuropathy.

    Methods: A prospectively planned interim analysis was conducted on an on-going, phase III, open-label extension study following an 18-month, randomized, controlled study and 12-month, open-label extension study in ATTRV30M patients and a single-arm, open-label study in non-ATTRV30M patients. Thirty-seven ATTRV30M patients received placebo for 18 months, then switched to tafamidis and 38 ATTRV30M patients and 18 non-ATTRV30M patients continuously received tafamidis from day 1, up to 6 years. Read More

    Safety and efficacy of empirical interleukin-1 inhibition using anakinra in AA amyloidosis of uncertain aetiology.
    Amyloid 2017 Sep 26;24(3):189-193. Epub 2017 Jul 26.
    a National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, Division of Medicine, University College London , London , UK.
    Objective: AA amyloidosis is a serious complication of persistent inflammation, which, untreated will progress to renal failure and death. Effective suppression of the underlying inflammatory disease is the focus of treatment. However, in approximately 20% of cases the underlying condition remains uncertain, presenting a dilemma as to choice of treatment. Read More

    Mining databases for protein aggregation: a review.
    Amyloid 2017 Sep 18;24(3):143-152. Epub 2017 Jul 18.
    a Section of Cell Biology and Biophysics, Department of Biology, School of Sciences , National and Kapodistrian University of Athens , Athens , Greece.
    Protein aggregation is an active area of research in recent decades, since it is the most common and troubling indication of protein instability. Understanding the mechanisms governing protein aggregation and amyloidogenesis is a key component to the aetiology and pathogenesis of many devastating disorders, including Alzheimer's disease or type 2 diabetes. Protein aggregation data are currently found "scattered" in an increasing number of repositories, since advances in computational biology greatly influence this field of research. Read More

    Applying an artificial neural network model for developing a severity score for patients with hereditary amyloid polyneuropathy.
    Amyloid 2017 Sep 18;24(3):153-161. Epub 2017 Jul 18.
    b Signal Processing Lab, COPPE/Poli , Universidade Federal do Rio de Janeiro , Rio de Janeiro , Brazil.
    Hereditary (familial) amyloid polyneuropathy (FAP) is a systemic disease that includes a sensorimotor polyneuropathy related to transthyretin (TTR) mutations. So far, a scale designed to classify the severity of this disease has not yet been validated. This work proposes the implementation of an artificial neural network (ANN) in order to develop a severity scale for monitoring the disease progression in FAP patients. Read More

    Towards the improvement in stability of an anti-Aβ single-chain variable fragment, scFv-h3D6, as a way to enhance its therapeutic potential.
    Amyloid 2017 Sep 12;24(3):167-175. Epub 2017 Jul 12.
    a Protein Folding and Stability Group, Departament de Bioquímica i Biologia Molecular , Unitat de Biociències, Universitat Autònoma de Barcelona , Spain.
    ScFv-h3D6 is a single-chain variable fragment derived from the monoclonal antibody bapineuzumab that prevents Aβ-induced cytotoxicity by capturing Aβ oligomers. The benefits of scFv-h3D6 treatment in Alzheimer's disease are known at the behavioural, cellular and molecular levels in the 3xTg-AD mouse model. Antibody-based therapeutics are only stable in a limited temperature range, so their benefit in vivo depends on their capability for maintaining the proper fold. Read More

    Predictors of early treatment failure following initial therapy for systemic immunoglobulin light-chain amyloidosis.
    Amyloid 2017 Sep 12;24(3):183-188. Epub 2017 Jul 12.
    a Division of Hematology , Mayo Clinic , Rochester , MN , USA.
    We analysed factors predicting early treatment failure (ETF), after first-line therapy for light-chain amyloidosis (AL). AL amyloidosis patients seen at Mayo Clinic within 90 days of diagnosis, from 2006 to 2015, excluding those who died within 3 months of initial therapy, were analysed retrospectively. ETF was defined as progression requiring treatment change or death within 12 (ETF12) or 24 (ETF24) months of first-line treatment. Read More

    Kidney biopsy in AA amyloidosis: impact of histopathology on prognosis.
    Amyloid 2017 Sep 7;24(3):176-182. Epub 2017 Jul 7.
    a Department of Nephrology , Ankara University School of Medicine , Ankara , Turkey.
    In AA amyloidosis, while kidney biopsy is widely considered for diagnosis by clinicians, there is no evidence that the detailed investigation of renal histopathology can be utilized for the prognosis and clinical outcomes. In this study, we aimed to obtain whether histopathologic findings in kidney biopsy of AA amyloidosis might have prognostic and clinical value. This is a retrospective cohort study that included 38 patients who were diagnosed with AA amyloidosis by kidney biopsy between 2005 and 2013. Read More

    Changing epidemiology of AA amyloidosis: clinical observations over 25 years at a single national referral centre.
    Amyloid 2017 Sep 7;24(3):162-166. Epub 2017 Jul 7.
    a National Amyloidosis Centre, Division of Medicine, Centre for Amyloidosis and Acute Phase Proteins , University College London , London , UK.
    Objective: Systemic AA amyloidosis is a serious complication of chronic inflammation; however, there are relatively few published data on its incidence. We investigated the changing epidemiology of AA amyloidosis over a 25-year period at a single national referral centre.

    Methods: We conducted a retrospective study of all patients diagnosed with AA amyloidosis who had attended the centre between 1990 and 2014 inclusive. Read More

    In vitro co-expression of human amyloidogenic immunoglobulin light and heavy chain proteins: a relevant cell-based model of AL amyloidosis.
    Amyloid 2017 Jun 20;24(2):115-122. Epub 2017 Jun 20.
    a Gerry Amyloidosis Research Laboratory, Amyloidosis Center , Boston University School of Medicine , Boston , MA , USA.
    Immunoglobulin (Ig) light chain (LC) amyloidosis (AL) is characterized by the overproduction and tissue deposition of monoclonal LC in various organs and tissues. The plasma circulating monoclonal LC is believed to be the precursor of the deposited protein and in vitro studies aimed at understanding AL pathobiology have mainly focused on LC and its variable domain. While 33% of patients have free circulating monoclonal LC, ∼40% feature LC complexed to heavy chain (HC) forming a monoclonal intact Ig; the significance of free vs. Read More

    Significant association between renal function and area of amyloid deposition in kidney biopsy specimens in both AA amyloidosis associated with rheumatoid arthritis and AL amyloidosis.
    Amyloid 2017 Jun 14;24(2):123-130. Epub 2017 Jun 14.
    a Division of Clinical Nephrology and Rheumatology , Kidney Research Center, Niigata University Graduate School of Medical and Dental Sciences , Niigata , Japan.
    The kidney is a major target organ for systemic amyloidosis, which results in proteinuria and an elevated serum creatinine level. The clinical manifestations and precursor proteins of amyloid A (AA) and light-chain (AL) amyloidosis are different, and the renal damage due to amyloid deposition also seems to differ. The purpose of this study was to clarify haw the difference in clinical features between AA and AL amyloidosis are explained by the difference in the amount and distribution of amyloid deposition in the renal tissues. Read More

    How your ears can tell what is hidden in your heart: wild-type transthyretin amyloidosis as potential cause of sensorineural hearing loss inelderly-AmyloDEAFNESS pilot study.
    Amyloid 2017 Jun 9;24(2):96-100. Epub 2017 Jun 9.
    a School of Medicine , University Paris-Est Creteil (UPEC) , Créteil , France.
    Background: Wild-type transthyretin amyloidosis (ATTRwt) is an age-related life-threatening condition. Prognosis is mainly dependent on cardiac involvement. Other organs and tissues may be affected. Read More

    Cognitive impairment in liver transplanted patients with transthyretin-related hereditary amyloid polyneuropathy.
    Amyloid 2017 Jun 7;24(2):110-114. Epub 2017 Jun 7.
    b Department of Neurosciences, Neurology , Hospital de Santa Maria, CHLN , Lisbon , Portugal.
    Introduction And Aim: Hereditary transthyretin-related amyloidosis (ATTR-FAP) is characterized by a progressive neuropathy, cardiomyopathy, nephropathy and ocular disease. More than 90% of amyloidogenic transthyretin is produced by the liver; however, this protein is also synthesized in the choroid plexus. Although some patients have transitory neurologic events, the impact on cognition is still unknown. Read More

    Diagnostic score for the detection of cardiac amyloidosis in patients with left ventricular hypertrophy and impact on prognosis.
    Amyloid 2017 Jun 29;24(2):101-109. Epub 2017 May 29.
    a Department of Cardiology , University Hospital of Rangueil , Toulouse , France.
    Background: Among diagnosis associated with left ventricular hypertrophy (LVH), cardiac amyloidosis (CA) is a progressive disease with poor prognosis. Early noninvasive identification is of growing clinical importance. The objective of our study was to integrate clinical, biologic, electrocardiographic and echocardiographic parameters to build a diagnostic score in patients with LVH. Read More

    Genetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis.
    Amyloid 2017 Jun 11;24(2):92-95. Epub 2017 May 11.
    a Center for Inherited Heart Disease , Johns Hopkins University , Baltimore , MD , USA.
    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). Read More

    Transthyretin amyloidosis: a phenocopy of hypertrophic cardiomyopathy.
    Amyloid 2017 Jun 5;24(2):87-91. Epub 2017 May 5.
    a Department of Clinical Genetics , Academic Medical Center , Amsterdam , The Netherlands.
    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. Read More


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