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Primary amyloidosis

Pankaj Beniwal, Lalit Pursnani, Sanjeev Sharma, R K Garsa, Mohit Mathur, Prasad Dharmendra, Vinay Malhotra, Dhanajai Agarwal
Studies published from centers across India have reported different and contradicting patterns of glomerular disease. In this retrospective study, we report our experience from a Tertiary Care Center in Northwest India. A total of 702 renal biopsies performed between 2008 and 2013 were reviewed of which 80 were excluded from the study because of having insufficient records or if the biopsies were taken from an allograft. The study included 411 males (66.1 %) and 211 females (33.9%) with an age range of 12-70 years (mean 30...
September 2016: Saudi Journal of Kidney Diseases and Transplantation
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No abstract text is available yet for this article.
September 14, 2016: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
Sophie Restellini, Olivier Chazouillères, Jean-Louis Frossard
Inflammatory bowel diseases (IBD) are associated with various hepatobiliary disorders, reported both in Crohn's disease (CD) and ulcerative colitis (UC). They may occur at any moment in the natural course of the disease. The prevalence of liver dysfunction rises from 3% to 50% accordingly to definitions. Fatty liver is considered as the most common hepatobiliary complication in IBD whilst primary sclerosing cholangitis (PSC) the most specific one. Less frequently, IBD-associated hepatobiliary disorders include: autoimmune hepatitis/PSC overlap syndrome, IgG4-associated cholangiopathy, primary biliary cholangitis (PBC), hepatic amyloidosis, granulomatous hepatitis, cholelithiasis, portal vein thrombosis, and liver abscess...
October 6, 2016: Liver International: Official Journal of the International Association for the Study of the Liver
Elizabeth Parsons, Pankaj Gupta, Prashanth Patel, Faizanur Rahman
A 68-year-old woman was referred to Lipid Clinic with sudden deterioration of previously well-controlled primary hyperlipidaemia. Investigations revealed nephrotic range proteinuria, leading to urgent renal biopsy and a diagnosis of amyloidosis. Chemotherapy was successful in stabilising renal function, reducing proteinuria and eliminating serum paraprotein. The resistant hyperlipidaemia subsequently resolved. Whilst hyperlipidaemia is pathognomonic of nephrotic syndrome, it is rarely the first characteristic identified by clinicians, often preceded by the identification of oedema or proteinuria...
October 2016: Oxford Medical Case Reports
Dominik Bettinger, Lisa Lutz, Michael Schultheiß, Martin Werner, Robert Thimme, Christoph Neumann-Haefelin
Primary systemic amyloidosis is a rare disorder resulting in extracellular deposition of insoluble fibrils in different organs. Liver involvement has been reported. Since hepatic amyloidosis often presents clinically asymptomatic without specific laboratory or imaging hallmarks, diagnosis is challenging. However, cases of progressive hepatic failure due to liver amyloidosis have been reported. A 63 year old man presented with newly diagnosed ascites to our department. The patient reported occasional alcohol consumption...
September 2016: Deutsche Medizinische Wochenschrift
Francesco Bonì, Mario Milani, Riccardo Porcari, Alberto Barbiroli, Stefano Ricagno, Matteo de Rosa
Mutations in gelsolin are responsible for a systemic amyloidosis first described in 1969. Until recently, the disease was associated with two substitutions of the same residue, leading to the loss of the calcium binding site. Novel interest arose in 2014 when the N184K variant of the protein was identified as the etiological agent of a novel kidney-localized amyloidosis. Here we provide a first rationale for N184K pathogenicity. We show that the mutation induces a destabilization of gelsolin second domain, without compromising its calcium binding capacity...
2016: Scientific Reports
Rizwan Zafar, Muhammad Haris, Salman Assad, Muhammad Usman Shabbir, Haider Ghazanfar, Sarah A Malik, Tehreem Khalid, Ali H Abbas, Asad A Saleem
PURPOSE:  Heart failure presents a huge burden for individual patients and the healthcare system as a whole. This study aims to assess the adherence to these core measures as identified by the Joint Commission on Accreditation of Healthcare Organizations (JCAHO)/ American Heart Association (AHA) by physicians of Pakistan. MATERIALS AND METHODOLOGY:  We conducted a cross-sectional study in Shifa International Hospital, Islamabad, Pakistan from the period of April 2013 to April 2016...
2016: Curēus
Yoshitaka Kikukawa, Hiroyuki Hata, Mitsuharu Ueda, Taro Yamashita, Singo Nasu, Kazuhiko Ide, Shikiko Ueno, Yukio Ando, Hiroaki Mitsuya, Yutaka Okuno
A 70-year-old woman with Charcot-Marie-Tooth disease (CMT) suffered from nephrotic syndrome and a renal biopsy revealed non-AA amyloid depositions that contained immunoglobulin light chain λ. Her serum λ free LC was elevated to 80.8 mg/L and she was diagnosed with primary amyloid light-chain (AL) amyloidosis. She was subsequently treated with lenalidomide, cyclophosphamide, and dexamethasone (RCD). After 14 cycles of RCD, she achieved complete remission. Her serum albumin levels gradually normalized to 3...
2016: Internal Medicine
Mathew A Sherman, Michael LaCroix, Fatou Amar, Megan E Larson, Colleen Forster, Adriano Aguzzi, David A Bennett, Martin Ramsden, Sylvain E Lesné
UNLABELLED: Despite the demonstration that amyloid-β (Aβ) can trigger increased tau phosphorylation and neurofibrillary tangle (NFT) formation in vivo, the molecular link associating Aβ and tau pathologies remains ill defined. Here, we observed that exposure of cultured primary neurons to Aβ trimers isolated from brain tissue of subjects with Alzheimer's disease led to a specific conformational change of tau detected by the antibody Alz50. A similar association was supported by postmortem human brain analyses...
September 14, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Wakako Tsuji, Eiji Takeuchi, Satoshi Oka, Taro Yamashita, Fumiaki Yotsumoto
BACKGROUND: Primary amyloidosis of the breast is an unusual benign disease that mostly occurs in postmenopausal elderly women. Amyloidosis is the deposition of amorphous protein within tissues. Breast biopsy is necessary to make a definite diagnosis in order to avoid unnecessary surgical methods. Localized primary amyloidosis of the breast has a good prognosis. However, secondary amyloidosis is a systemic disease and has a poor prognosis. CASE PRESENTATION: We report the case of a 77-year-old female with primary amyloidosis of the breast...
2016: BMC Surgery
Q Yin, Y Fan, X Tang, L Li, Y Zeng, H Liao, S Huang, F Liu
The clinical manifestations of primary systemic amyloidosis with the involvement of a variety of organs, such as the kidney, heart, peripheral nervous system, liver, and so forth, are varied, complicated and nonspecific. The mucocutaneous manifestations, sometimes as the symptom in the early stages of disease, may provide an important clue for the diagnostic suspicion. Here we described a case of primary systemic amyloidosis with the history of Type 2 diabetes mellitus (T2DM) for nine years who had recurrent periorbital purpura in the initial stage, followed by nephrotic syndrome...
February 15, 2016: West Indian Medical Journal
Xia Wu, Jun Feng, Xinxin Cao, Lu Zhang, Daobin Zhou, Jian Li
BACKGROUND: Primary immunoglobulin light chain amyloidosis (AL amyloidosis) is a plasma cell disorder which mainly affects heart, kidneys, liver, and peripheral nervous system. Cases of atypical AL amyloidosis presented as spontaneous vertebral compression fractures have been rarely reported, and data about the management and clinical outcomes of the patients are scarce. METHODS: Herein, we present 3 new cases of AL amyloidosis with spontaneous vertebral compression fracture and review 13 cases retrieved from the literature...
September 2016: Medicine (Baltimore)
Sunita Paudyal, Frances M Yang, Christopher Rice, Chen-Chun Chen, Michael Skelton, Monique Bethel, Shilpa Brown, Norris Stanley Nahman, Laura Carbone
OBJECTIVES: To determine the frequency of end-stage renal disease (ESRD) in patients with rheumatoid arthritis (RA), the causes of ESRD, and the treatment of RA in the setting of ESRD. METHODS: Cross-sectional study of RA (N = 3754) and non-RA (N = 326,776) patients in the United States Renal Data System (USRDS) during 2011 (N = 330,530). The epidemiology of ESRD in RA was determined and the etiology of ESRD in patients with and without RA was compared. The frequency of patients with RA with at least one filled prescription for prednisone/prednisolone, a DMARD, and/or a biologic in 2011 was determined...
August 2, 2016: Seminars in Arthritis and Rheumatism
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...
August 20, 2016: JACC. Cardiovascular Imaging
Ambra Masuzzo, Virginie Dinet, Chelsea Cavanagh, Frederic Mascarelli, Slavica Krantic
As a part of the central nervous system, the retina may reflect both physiological processes and abnormalities related to pathologies that affect the brain. Amyloidosis due to the accumulation of amyloid-beta (Aβ) was initially regarded as a specific and exclusive characteristic of neurodegenerative alterations seen in the brain of Alzheimer's disease (AD) patients. More recently, it was discovered that amyloidosis-related alterations, similar to those seen in the brain of Alzheimer's patients, also occur in the retina...
2016: Frontiers in Neurology
Vilma Takayasu, Lorena Silva Laborda, Raquel Bernardelli, Henrique Trombini Pinesi, Marilia Polo Minguete E Silva, Viviane Chiavelli, Angélica Braz Simões, Aloisio Felipe-Silva
Amyloidosis comprises a group of diseases that occurs in five to nine cases per million patients per year worldwide irrespective of its classification. Although the hepatic involvement in primary amyloidosis is frequent, the clinical manifestations of liver amyloidosis are mild or even absent. The authors report the case of an aged man who complained of diffuse abdominal pain and marked weight loss and presented clinical signs of hepatopathy. Clinical workup revealed portal hypertension with ascites, hemorrhoids, and esophageal varices...
April 2016: Autopsy & case reports
Brian P Chalmers, Cameron K Ledford, Joseph M Statz, Tad M Mabry, Arlen D Hanssen, Matthew P Abdel
INTRODUCTION: As patients who receive hematopoietic stem cell transplantation are at increased risk of avascular necrosis (AVN) and subsequent degenerative arthritis, THA may be considered in some of these patients, particularly as overall patient survival improves for patients undergoing stem-cell transplants. Patients receiving hematopoietic stem cell transplantation theoretically are at increased risk of experiencing complications, infection, and poorer implant survivorship owing to the high prevalence of comorbid conditions, immunosuppressive therapy regimens including corticosteroids, and often low circulating hematopoietic cell lines; however, there is a paucity of studies elucidating these risks...
August 19, 2016: Clinical Orthopaedics and related Research
Hans L A Nienhuis, Johan Bijzet, Bouke P C Hazenberg
BACKGROUND: Amyloidosis has been a mystery for centuries, but research of the last decennia has clarified many of the secrets of this group of diseases. A protein-based classification of amyloidosis helps to understand problems that were part of the obsolete clinical classification in primary, secondary, and familial amyloidosis. All types of amyloid are secondary to some underlying precursor-producing process: each type is caused by a misfolded soluble precursor protein that becomes deposited as insoluble amyloid fibrils...
April 2016: Kidney Diseases
Sepideh Darougar, Farin Rashid Farokhi, Shaghayegh Tajik, Nooshin Baghaie, Mehrdad Amirmoini, Bahram Bashardoust, Seyed Karen Hashemitari, Seyed Alireza Mahdaviani
Chronic granulomatous disease is a rare primary immunodeficiency disorder, which leads to increased susceptibility to recurrent infections and severe inflammatory manifestations.  There have been reports regarding different aspects of genitourinary involvement in chronic granulomatous disease, some of which are hydronephrosis, granulomatous cystitis, and glomerulonephritis, but among these complications, amyloidosis is rather rare. We report a patient with chronic granulomatous disease that developed amyloidosis later in the course of the disease...
July 2016: Iranian Journal of Kidney Diseases
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
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