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systematic amyloidosis

Sentaro Imamura, Shintaro Narita, Ryuta Nishikomori, Hiroshi Tsuruta, Kazuyuki Numakura, Atsushi Maeno, Mitsuru Saito, Takamitsu Inoue, Norihiko Tsuchiya, Hiroshi Nanjo, Toshio Heike, Shigeru Satoh, Tomonori Habuchi
BACKGROUND: Secondary bladder amyloidosis is an extremely rare disease, resulting from a chronic systematic inflammatory disorder associated with amyloid deposits. Although uncommon in Japan, familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent episodes of fever of short duration and serositis and is frequently associated with systemic amyloidosis. Here, we present a case of a Japanese patient complaining of fever and macroscopic hematuria after a living donor renal transplantation...
October 19, 2016: BMC Research Notes
Sameer Raina, Shelly Y Lensing, Ramez S Nairooz, Naga Venkata K Pothineni, Abdul Hakeem, Sabha Bhatti, Tarun Pandey
OBJECTIVES: The aim of this study was to access the prognostic implication of late gadolinium enhancement (LGE) in patients with systemic amyloidosis undergoing cardiac magnetic resonance (CMR). BACKGROUND: Cardiac amyloidosis confers significantly worse prognosis in patients with systemic amyloidosis. CMR imaging has emerged as an attractive noninvasive modality to diagnose cardiac involvement in patients with systemic amyloidosis. We performed a systemic review and meta-analysis to evaluate the prognostic role of LGE-CMR imaging in patients with systemic amyloidosis...
November 2016: JACC. Cardiovascular Imaging
Lara Ordoñez-Gutierrez, Ivan Fernandez-Perez, Jose Luis Herrera, Marta Anton, Irene Benito-Cuesta, Francisco Wandosell
Cerebellar pathology has been related to presenilin 1 mutations in certain pedigrees of familial Alzheimer's disease. However, cerebellum tissue has not been intensively analyzed in transgenic models of mutant presenilins. Furthermore, the effect of the sex of the mice was not systematically analyzed, despite the fact that important gender differences in the evolution of the disease in the human population have been described. We analyzed whether the progression of amyloidosis in a double transgenic mouse, AβPP/PS1, is susceptible to aging and differentially affects males and females...
September 6, 2016: Journal of Alzheimer's Disease: JAD
David Hamon, Vincent Algalarrondo, Estelle Gandjbakhch, Fabrice Extramiana, Eloi Marijon, Nathalie Elbaz, Dounia Selhane, Jean-Luc Dubois-Rande, Emmanuel Teiger, Violaine Plante-Bordeneuve, Thibaud Damy, Nicolas Lellouche
BACKGROUND: Cardiac amyloidosis (CA) is associated with a poor prognosis with the proposed mechanism of sudden cardiac death in the majority of patients being pulseless electrical activity. However, the incidence of ventricular arrhythmias (VA) and implantable cardioverter-defibrillator (ICD) indications in CA patients are unclear. We performed a detailed evaluation of our CA population undergoing ICD implantation and assessed appropriate ICD therapy and survival predictors. METHODS: We included consecutive patients from June 2008 to November 2014 in five centers...
November 1, 2016: International Journal of Cardiology
Adam J Loavenbruck, Wolfgang Singer, Michelle L Mauermann, Paola Sandroni, P James B Dyck, Morie Gertz, Christopher J Klein, Phillip A Low
OBJECTIVE: To systematically compare transthyretin with primary amyloid neuropathy to define their natural history and the underlying mechanisms for differences in phenotype and natural history. METHODS: All patients with defined amyloid subtype and peripheral neuropathy who completed autonomic testing and electromyography at Mayo Clinic Rochester between 1993 and 2013 were included. Medical records were reviewed for time of onset of defined clinical features. The degree of autonomic impairment was quantified using the composite autonomic severity scale...
September 2016: Annals of Neurology
Kari Hemminki, Asta Försti, Raimo Tuuminen, Otto Hemminki, Hartmut Goldschmidt, Kristina Sundquist, Jan Sundquist, Xinjun Li
Plasma cell dyscrasias, including monoclonal gammopathy of undetermined significance (MGUS), multiple myeloma (MM), Waldenström macroglobulinemia (WM) and light chain AL amyloidosis, are characterized by clonal expansion of plasma cells which produce a vast amount of an immunoglobulin-derived M-protein. We noted that MGUS diagnosis often coincided with diagnoses of senile cataract and glaucoma and tested the associations of MGUS, MM, WM and AL amyloidosis with subsequent eye diseases identified from the Swedish patient registers between 1997 and 2012...
2016: Scientific Reports
Lei Zhao, Zhuang Tian, Quan Fang
BACKGROUND: This study is a systematic review and meta-analysis of the diagnostic value of cardiovascular magnetic resonance (CMR) in cardiac amyloidosis (CA). METHODS: A wide variety of electronic databases were searched for studies of CMR that reported the diagnostic accuracy in patients with suspected CA. Research manuscripts were subjected to further systematic review and meta-analysis. Methodological evaluation was performed under the guidance of the Quality Assessment of Diagnostic Accuracy Studies -2 (QUADAS-2)...
2016: BMC Cardiovascular Disorders
E Monge, N Coolen-Allou, P Mascarel, V Gazaille
INTRODUCTION: Primary pulmonary lymphoma is a rare disease; diagnosis is often delayed because of atypical clinical presentation and slow progression. OBSERVATION: A 42-year-old woman consulted because of haemoptysis. Chest CT-scan showed multiple nodular calcified masses. A lung biopsy led to the diagnosis of pulmonary amyloidosis with pulmonary MALT lymphoma (mucosa-associated lymphoid tissue). The patient developed two paraneoplastic syndromes: a hypertrophic osteoarthropathy and mucinosis...
May 4, 2016: Revue des Maladies Respiratoires
Jeroen Ch van der Hilst, Michel Moutschen, Peter E Messiaen, Bernard R Lauwerys, Steven Vanderschueren
INTRODUCTION: In 5%-10% of patients with familial Mediterranean fever (FMF), colchicine is not effective in preventing inflammatory attacks. Another 5%-10% of patients are intolerant to effective doses of colchicine and experience serious side effects. Treatment with anti-interleukin-1 (IL-1) drugs may be an alternative for these patients, although it is not reimbursed for this indication in many countries. METHODS: We systematically searched PubMed, Web of Science, and Scopus for reports of anti-IL-1 treatment in FMF patients...
2016: Biologics: Targets & Therapy
Joan Tosca Cuquerella, Marta Maia Bosca-Watts, Rosario Anton Ausejo, Sandra Tejedor Alonso, Francisco Mora De Miguel, Miguel Minguez Perez
BACKGROUND AND AIMS: Amyloidosis is a rare complication of inflammatory bowel disease [IBD]; its low prevalence has hindered both descriptive and therapeutic studies. The aim of this study was to estimate the prevalence of amyloidosis in IBD and the risk factors associated with this complication. METHODS: This paper presents an observational study, followed by a systematic review of the epidemiological and clinical characteristics of the disease and a review of the diagnostic and therapeutic options...
October 2016: Journal of Crohn's & Colitis
Jessica Oliboni Scapineli, Lucieli Ceolin, Márcia Khaled Puñales, José Miguel Dora, Ana Luiza Maia
Multiple endocrine neoplasia type 2A (MEN2A) may be rarely associated with cutaneous lichen amyloidosis (CLA), a skin lesion located in the interescapular region. Here, we describe 3 MEN2A-related CLA kindred and perform a systematic review (SR) of the literature on clinical, biochemical and molecular characteristics of MEN2A-related CLA patients. Thirty-eight patients with MEN2A-related CLA followed at our institution were evaluated. The median age at MEN2A diagnosis in our cohort was 25 (13-41) years, 68 % were women and all harbored codon 634 RET mutations...
October 2016: Familial Cancer
Guy Touchard, Frank Bridoux, Jean-Michel Goujon
The spectrum of glomerular disorders with organized immunoglobulin (Ig) deposits is heterogeneous. It encompasses 2 mains categories: glomerulopathies with fibrillary deposits are mostly represented by immunoglobulinic amyloidosis (most commonly AL amyloidosis, characterized by monoclonal light chain deposits often of the lambda isotype), and pseudo-amyloid fibrillary glomerulonephritis in which deposits predominantly contain polyclonal IgG4. Glomerulopathies with microtubular deposits include cryoglobulinemic glomerulonephritis (type I and type II, with or without detectable serum cryoglobulin) and glomerulonephritis with organized microtubular monoclonal Ig deposits (GOMMID) also referred to as immunotactoid glomerulopathy...
February 2016: Néphrologie & Thérapeutique
P Chandrasekaran, R Rajasekaran
Beta-2 microglobulin (β2m) is an amyloidogenic protein belongs to the immunoglobulin superfamily, responsible for the dialysis-related amyloidosis (DRA). Misfolding of β2m is a prerequisite to the formation of systemic amyloidosis that has an effect on the structure and function of the affected organ. The aim of our present study is to intensively explore the structural characterization of amyloid aggregation propensity of recently identified natural mutation D76N by applying the classical molecular dynamics (MD) approach...
March 2016: Molecular BioSystems
Laura Obici, Jan B Kuks, Juan Buades, David Adams, Ole B Suhr, Teresa Coelho, Theodore Kyriakides
PURPOSE OF REVIEW: These recommendations highlight recent experience in genetic counselling for the severe autosomal-dominant, late-onset transthyretin familial amyloid polyneuropathy (TTR-FAP) disease, and present a structured approach towards identification and monitoring of asymptomatic carriers of the mutated gene. RECENT FINDINGS: The effectiveness of current treatment options is still limited in patients with TTR-FAP beyond stage I. Diagnosis in the early stages of TTR-FAP is essential to prevent or delay the progression of disease...
February 2016: Current Opinion in Neurology
Burak Erer, Erkan Demirkaya, Seza Ozen, Tilmann Kallinich
The most dreaded complication of familial Mediterranean fever (FMF) is amyloidosis; controversy exists as to what acute phase reactant (APR) should be monitored in these patients. To analyze the best acute phase reactant for FMF follow-up to help guide physicians to decide on what APR parameter to use, we also attempted to define the best APR in predicting the complications of FMF, specifically the development of amyloidosis. Systematic review based on a sensitive search to capture studies that: (1) included FMF patients; (2) measured serum amyloid A (SAA), CRP (C-reactive protein), proteinuria, or ESR (erythrocyte sedimentation rate); (3) amyloidosis were the outcome measure; (4) sensitivity, specificity, predictive value, and other performance parameters could be calculated; and (5) had a longitudinal design...
April 2016: Rheumatology International
Shameem Mahmood, Frank Bridoux, Christopher P Venner, Sajitha Sachchithanantham, Janet A Gilbertson, Dorota Rowczenio, Thomas Wagner, Rabya Sayed, Ketna Patel, Marianna Fontana, Carol J Whelan, Helen J Lachmann, Philip N Hawkins, Julian D Gillmore, Ashutosh D Wechalekar
BACKGROUND: Localised immunoglobulin light-chain amyloidosis, involving one type of tissue, is rare. Little systematic data exists regarding clinical presentations, course or outcomes, or risk of progression to systemic amyloidosis. We aimed to report clinical features and outcomes of a large series of patients with localised light-chain amyloidosis. METHODS: We examined data for all patients with localised amyloidosis who were diagnosed, assessed, and followed at the UK National Amyloidosis Centre (NAC) between Jan 2, 1980, and Dec 15, 2011, from the NAC database and written records...
June 2015: Lancet Haematology
Erkan Demirkaya, Burak Erer, Seza Ozen, Eldad Ben-Chetrit
Familial Mediterranean fever (FMF) is an autoinflammatory disease, which can be well controlled with lifelong use of colchicine. Since studies dealing with the efficacy and safety of colchicine were conducted mainly in the sixties and seventies of the previous century, it seems that this topic needs to be updated. Recently, an international expert panel was undertaken for the establishment of recommendations on how to manage FMF. We aimed to summarize the efficacy and safety of the current treatments available to prevent FMF attacks and to avert the appearance of amyloidosis secondary to FMF...
March 2016: Rheumatology International
Ali Chaari, Christine Fahy, Alexandre Chevillot-Biraud, Mohamed Rholam
Protein misfolding and amyloid formation are an underlying pathological hallmark in a number of prevalent diseases of protein aggregation ranging from Alzheimer's and Parkinson's diseases to systemic lysozyme amyloidosis. In this context, we have used complementary spectroscopic methods to undertake a systematic study of the self-assembly of hen egg-white lysozyme under agitation during a prolonged heating in acidic pH. The kinetics of lysozyme aggregation, monitored by Thioflavin T fluorescence, dynamic light scattering and the quenching of tryptophan fluorescence by acrylamide, is described by a sigmoid curve typical of a nucleation-dependent polymerization process...
2015: PloS One
A C Martins, A M Rosa, E Costa, C Tavares, M J Quadrado, J N Murta
PURPOSE: This paper aims to review the morphological and functional characteristics of patients affected by familial amyloid polyneuropathy (FAP), with greater focus on type I and its progression after liver transplantation. We also analyse therapeutic options for the ophthalmic manifestations. METHODS: The literature from 2002 through 2015 was reviewed, with a total of 45 articles studied, using the key terms related to amyloidosis and its therapeutic approaches...
2015: BioMed Research International
Sajitha Sachchithanantham, Mark Offer, Christopher Venner, Shameem A Mahmood, Darren Foard, Lisa Rannigan, Thirusha Lane, Julian D Gillmore, Helen J Lachmann, Philip N Hawkins, Ashutosh D Wechalekar
Systemic AL amyloidosis, a disease with improving outcomes using novel therapies, is increasingly recognized in the elderly but treatment and outcomes have not been systematically studied in this group of patients in whom comorbidities and frailty may compound morbidity and mortality. We report the outcomes of 295 patients with systemic AL amyloidosis ≥75 years seen at the UK National Amyloidosis Centre from 2005-2012. The median age was 78.5 years. The median overall survival was 20 months. Two hundred and thirty-eight patients received chemotherapy and 57 elected for supportive care only (overall survival - 24 and 8...
November 2015: Haematologica
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