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Primary amyloidosis

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https://www.readbyqxmd.com/read/28087478/renal-involvement-in-lysinuric-protein-intolerance-contribution-of-pathology-to-assessment-of-heterogeneity-of-renal-lesions
#1
Emmanuel Estève, Pauline Krug, Aurélie Hummel, Jean-Baptiste Arnoux, Olivia Boyer, Anais Brassier, Pascale de Lonlay, Vincent Vuiblet, Stéphanie Gobin, Rémi Salomon, Christine Piètrement, Jean-Paul Bonnefont, Aude Servais, Louise Galmiche
Lysinuric protein intolerance (LPI) is a rare autosomal recessive disease caused by mutations in the SLC7A7 gene encoding the light subunit of a cationic amino acid transporter. Symptoms mimic primary urea cycle defects but dysimmune symptoms are also described. Renal involvement in LPI was first described in the 1980's. In 2007, it appeared that it could concern as much as 75% of LPI patients and could lead to end stage renal disease. The most common feature is proximal tubular dysfunction and nephrocalcinosis but glomerular lesions are also reported...
January 10, 2017: Human Pathology
https://www.readbyqxmd.com/read/28076605/isolated-primary-amyloidosis-of-the-inferior-rectus-muscle-mimicking-graves-orbitopathy
#2
Mário Luiz Ribeiro Monteiro, Allan Christian Pieroni Gonçalves, Alanna Mara Pinheiro Sobreira Bezerra
The diagnosis of Graves' orbitopathy is usually straightforward. However, orbital diseases that mimick some clinical signs of Graves' orbitopathy may cause diagnostic confusion, particularly when associated to some form of thyroid dysfunction. This report describes the rare occurrence of localized inferior rectus muscle amyloidosis in a patient with autoimmune hypothyroidism, who was misdiagnosed as Graves' orbitopathy. A 48-year-old man complained of painless progressive proptosis on the left side and intermittent vertical diplopia for 6 months...
October 2016: Einstein
https://www.readbyqxmd.com/read/28056871/lung-adenocarcinoma-expressing-receptor-for-advanced-glycation-end-products-with-primary-systemic-al-amyloidosis-a-case-report-and-literature-review
#3
Shouichi Okamoto, Shinsaku Togo, Ichiro Nagata, Kazue Shimizu, Yoshika Koinuma, Yukiko Namba, Jun Ito, Toshimasa Uekusa, Kazuhisa Takahashi
BACKGROUND: Receptor for advanced glycation end-products (RAGE), a receptor for amyloids, is constitutively expressed in lungs and generally observed to be downregulated in lung cancer tissues. However, increasing levels of RAGE or serum amyloids is associated with poor outcome in lung cancer patients. We report a rare case of primary systemic amyloid light-chain (AL) amyloidosis in biopsy-proven multiple organs with early-stage non-small cell lung cancer (NSCLC) that displayed strong staining for RAGE in the tumour tissue...
January 5, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28049394/coexistence-of-amyloidosis-and-primary-sj%C3%A3-gren-s-syndrome-an-overview-amyloidosis-and-sj%C3%A3-gren-s-syndrome
#4
Gabriela Hernandez-Molina, David Faz-Muñoz, Miguel Astudillo-Angel, Alejandra Iturralde-Chávez, Edgardo Reyes
BACKGROUND: The association of primary Sjögren´s syndrome (SS) and amyloidosis has been recognized but scarcely assessed. OBJECTIVE: Herein we analyzed the literature regarding this association in order to describe a SS phenotype prone to both conditions. METHODS: PubMed and CINAHL databases were searched from inception until April 2016 for the key words: amyloidosis, amyloid, Sjögren's syndrome and their combinations. RESULTS: Most of the cases corresponded to localized amyloidosis mainly at skin and lung, whereas only three cases were systemic...
January 3, 2017: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/28042785/anterior-aortic-plane-systolic-excursion-a-novel-indicator-of-transplant-free-survival-in-systemic-light-chain-amyloidosis
#5
Marco M Ochs, Johannes Riffel, Arnt V Kristen, Ute Hegenbart, Stefan Schönland, Stefan E Hardt, Hugo A Katus, Derliz Mereles, Sebastian J Buss
BACKGROUND: Anterior aortic plane systolic excursion (AAPSE) was evaluated in the present pilot study as a novel echocardiographic indicator of transplant-free survival in patients with systemic light-chain amyloidosis. METHODS: Eighty-nine patients with light-chain amyloidosis were included in the post-hoc analysis. A subgroup of 54 patients with biopsy-proven cardiac amyloid infiltration were compared with 41 healthy individuals to evaluate the discriminative ability of echocardiographic findings...
December 2016: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/27995877/-the-diagnostic-and-prognostic-values-of-serum-free-light-chain-in-patients-with-primary-light-chain-amyloidosis
#6
C L Zhang, J Feng, K N Shen, W Su, C L Zhang, X F Huang, X X Cao, L Zhang, D B Zhou, J Li
Objective: To investigate the diagnostic and prognostic values of serum free light chain (sFLC) in patients with primary light chain amyloidosis (pAL). Methods: Patients diagnosed with pAL between January 2009 and June 2015 at Peking Union Medical College Hospital were included in this study to retrospectively evaluate the clinical data, sFLC, treatment and survival. Results: In total, 126 newly diagnosed pAL patients with complete sFLC data were included in this study. The median age was 57 years old (range, 37-81 years) and male to female ratio was 1...
November 14, 2016: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/27974983/ectropion-and-conjunctival-mass-in-a-patient-with-primary-bilateral-conjunctival-amyloidosis
#7
Alessandro Meduri, Miguel Rechichi, Cosimo Mazzotta, Sergio Zaccharia Scalinci, Mahmoud O Jaroudi
Background. Amyloidosis is a group of disorders characterized by deposition of an extracellular protein, known as amyloid, in an abnormal fibrillar form with highly characteristic histopathologic staining properties. The clinical presentation can vary from a focal, localized lesion where amyloidosis has minor clinical consequences to extensive systemic disease that can involve any organ system of the body. Ocular amyloidosis can occur as a localized lesion or as a part of a systemic disorder. Conjunctival amyloidosis is an uncommon condition that is rarely associated with systemic disease...
2016: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/27957427/a-rare-case-of-hematuria-primary-amyloidosis-of-the-bladder-neck
#8
Sotonye Tolofari, Asif Ansari, Ross J Knight
Primary and localized amyloidosis of the urinary tract is considered to be a rare clinical entity with approximately 160 cases documented in the literature. Here we present a case of a 77 year old gentleman with painless visible hematuria. Flexible cystoscopy revealed abnormal and polypoidal bladder mucosa. Transurethral resection of these lesions revealed histology with congo-red staining and positive green-apple birefringence, these findings are consistent with amyloidosis. There has so far been no sign of recurrence in this gentleman, with routine cystoscopic surveillance...
January 2017: Urology Case Reports
https://www.readbyqxmd.com/read/27957424/bullous-skin-lesions-in-a-patient-with-end-stage-renal-disease-combined-with-myeloma-and-primary-amyloidosis
#9
Jong Hwan Jung
No abstract text is available yet for this article.
December 2016: Kidney Research and Clinical Practice
https://www.readbyqxmd.com/read/27940040/geniposide-ameliorates-cognitive-deficits-by-attenuating-the-cholinergic-defect-and-amyloidosis-in-middle-aged-alzheimer-model-mice
#10
Chunhui Zhao, Haijing Zhang, Hang Li, Cui Lv, Xiaoli Liu, Zhi Li, Wenfeng Xin, Yongyan Wang, Wensheng Zhang
Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by memory deficits and cognitive decline. Amyloid-β (Aβ) deposition and cholinergic defect are widely thought to be the underlying mechanism of learning and memory impairment. Geniposide, which is the main active component of the traditional Chinese herbal Gardenia jasminoides Ellis, elicits neuroprotective effects by alleviating inflammation responses and oxidative damages. In this study, we investigated the protective effect of geniposide on levels of cholinergic markers, RAGE, RAGE-dependent signalling pathways and amyloid accumulation in the APPswe/PS1dE9 AD model mouse...
December 6, 2016: Neuropharmacology
https://www.readbyqxmd.com/read/27879490/intense-uptake-in-amyloidosis-of-the-seminal-vesicles-on-68ga-psma-pet-mimicking-locally-advanced-prostate-cancer
#11
Maximilian Stephens, David Insoo Kim, Benjamin Shepherd, Sonja Gustafson, Paul Thomas
We report a case of benign senile seminal vesicle amyloidosis demonstrating intense Ga-prostate-specific membrane antigen (PSMA) uptake on PET/CT. A 68-year-old man underwent staging PSMA PET/CT and MRI for biopsy-proven prostate adenocarcinoma. There was an intense focus of Ga-PSMA uptake in the primary malignancy, as well as symmetrical intense uptake in the seminal vesicles bilaterally that was reported as multifocal disease with local invasion. Final histology after radical prostatectomy showed amyloidosis of the seminal vesicles without any evidence of prostate cancer...
November 22, 2016: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/27878699/differentiation-of-light-chain-cardiac-amyloidosis-from-hypertrophic-cardiomyopathy-using-myocardial-mechanical-parameters-by-velocity-vector-imaging-echocardiography
#12
Lu Zhang, Xiao Zhou, Jing Wang, Yang Mu, Bohan Liu, Wenqing Lv, Ye Wang, Hongwei Liu, Hongbin Liu, Guang Zhi
We aimed to evaluate the diagnostic efficacy of layered velocity vector imaging (VVI)-derived left ventricular (LV) mechanical parameters in the differential diagnosis of primary light-chain cardiac amyloidosis (AL-CA) and hypertrophic cardiomyopathy (HCM). We recruited 35 subjects with histologically-diagnosed AL-CA, 35 subjects with HCM, and 30 age-matched healthy controls. We used conventional echocardiography and electrocardiogram to evaluate general heart function and electrophysiology properties. Furthermore, we applied two-dimensional VVI echocardiography to assess the layered mechanical parameters during systole, including endocardial and epicardial longitudinal strain (ENDO and EPI LSsys), circumferential strain (CSsys), radial strain (RSsys), rotation (ROT) and twist (TWI), in different LV walls and levels...
November 23, 2016: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/27828646/primary-localized-cutaneous-amyloidosis-with-lichen-and-poikiloderma-like-lesions-and-an-excellent-response-to-systemic-acitretin
#13
Han Ma, Xiangyang Su, Guoxing Zhu, Songchao Yin, Chun Lu, Wei Lai
Primary localized cutaneous amyloidosis is a skin-limited amyloidosis that does not involve internal organs. It is clinically subclassified into 3 general categories and some rare variants. However, there is considerable overlap within the classification. Though there are a variety of therapeutic measures, the treatment is often unsatisfactory, particularly when the disease is severe and extensive. We describe a rare case of primary localized cutaneous amyloidosis with lichen and poikiloderma-like lesions that showed an excellent response to systemic acitretin...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/27822103/the-danish-national-multiple-myeloma-registry
#14
REVIEW
Peter Gimsing, Morten O Holmström, Tobias Wirenfelt Klausen, Niels Frost Andersen, Henrik Gregersen, Robert Schou Pedersen, Torben Plesner, Per Trøllund Pedersen, Mikael Frederiksen, Ulf Frølund, Carsten Helleberg, Annette Vangsted, Peter de Nully Brown, Niels Abildgaard
AIM: The Danish National Multiple Myeloma Registry (DMMR) is a population-based clinical quality database established in January 2005. The primary aim of the database is to ensure that diagnosis and treatment of plasma cell dyscrasia are of uniform quality throughout the country. Another aim is to support research. Patients are registered with their unique Danish personal identification number, and the combined use of DMMR, other Danish National registries, and the Danish National Cancer Biobank offers a unique platform for population-based translational research...
2016: Clinical Epidemiology
https://www.readbyqxmd.com/read/27804150/progressive-refractory-light-chain-amyloidosis-and-multiple-myeloma-patients-are-responsive-to-the-addition-of-clarithromycin-to-imid-based-therapy
#15
Adir Shaulov, Chezi Ganzel, Noam Benyamini, Yossef Barshay, Neta Goldschmidt, David Lavie, Diana Libster, Alex Gural, Batia Avni, Moshe E Gatt
Multiple myeloma (MM) and primary systemic light chain amyloidosis (AL) are both chronic plasma cell dyscrasias with different clinical expression but limited treatment options for relapsed refractory disease. We report the effect of the addition of clarithromycin on 31 MM and 17 AL with relapsed or refractory disease who had an insufficient response or disease progression while on an IMiD based therapy. In this high risk population, hematological response was reported in 48% of MM patients and 94% of AL patients...
November 2, 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27802513/assessment-of-the-incremental-diagnostic-value-of-florbetapir-f-18-imaging-in-patients-with-cognitive-impairment-the-incremental-diagnostic-value-of-amyloid-pet-with-18f-florbetapir-india-fbp-study
#16
Marina Boccardi, Daniele Altomare, Clarissa Ferrari, Cristina Festari, Ugo Paolo Guerra, Barbara Paghera, Claudio Pizzocaro, Giulia Lussignoli, Cristina Geroldi, Orazio Zanetti, Maria Sofia Cotelli, Marinella Turla, Barbara Borroni, Luca Rozzini, Dario Mirabile, Carlo Defanti, Michele Gennuso, Alessandro Prelle, Simona Gentile, Alessandro Morandi, Stefano Vollaro, Giorgio Dalla Volta, Angelo Bianchetti, Marta Zaffira Conti, Melania Cappuccio, Pasqualina Carbone, Daniele Bellandi, Luciano Abruzzi, Luigi Bettoni, Daniele Villani, Maria Clara Raimondi, Alessia Lanari, Alfonso Ciccone, Emanuela Facchi, Ignazio Di Fazio, Renzo Rozzini, Stefano Boffelli, Laura Manzoni, Giovanni Pietro Salvi, Sabina Cavaliere, Gloria Belotti, Stefano Avanzi, Patrizio Pasqualetti, Cristina Muscio, Alessandro Padovani, Giovanni B Frisoni
Importance: Cerebral amyloidosis is a key abnormality in Alzheimer disease (AD) and can be detected in vivo with positron emission tomography (PET) ligands. Although amyloid PET has clearly demonstrated analytical validity, its clinical utility is debated. Objective: To evaluate the incremental diagnostic value of amyloid PET with florbetapir F 18 in addition to the routine clinical diagnostic assessment of patients evaluated for cognitive impairment. Design, Setting, and Participants: The Incremental Diagnostic Value of Amyloid PET With [18F]-Florbetapir (INDIA-FBP) Study is a multicenter study involving 18 AD evaluation units from eastern Lombardy, Northern Italy, 228 consecutive adults with cognitive impairment were evaluated for AD and other causes of cognitive decline, with a prescan diagnostic confidence of AD between 15% and 85%...
December 1, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27798053/relationship-between-aetiology-and-left-ventricular-systolic-dysfunction-in-hypertrophic-cardiomyopathy
#17
Stefania Rosmini, Elena Biagini, Costantinos O'Mahony, Heerajnarain Bulluck, Niccolo' Ruozi, Luis R Lopes, Oliver Guttmann, Patricia Reant, Cristina C Quarta, Antonis Pantazis, Maria Tome-Esteban, William J Mckenna, Claudio Rapezzi, Perry M Elliott
BACKGROUND: Severe left ventricular (LV) systolic dysfunction is an uncommon complication of hypertrophic cardiomyopathy (HCM) that is associated with poor prognosis. Small observational series suggest that patients with rare causes of HCM are more likely to develop systolic impairment than those with idiopathic disease or mutations in cardiac sarcomeric protein genes. The aim of this study was to test this hypothesis by comparing the prevalence of systolic dysfunction and its impact on prognosis in patients with different causes of HCM...
October 24, 2016: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/27785640/can-mri-t1-be-used-to-detect-early-changes-in-5xfad-alzheimer-s-mouse-brain
#18
Nicholas G Spencer, David P Lovell, Kay Elderfield, Brian Austen, Franklyn A Howe
OBJECTIVES: In the present study, we have tested whether MRI T1 relaxation time is a sensitive marker to detect early stages of amyloidosis and gliosis in the young 5xFAD transgenic mouse, a well-established animal model for Alzheimer's disease. MATERIALS AND METHODS: 5xFAD and wild-type mice were imaged in a 4.7 T Varian horizontal bore MRI system to generate T1 quantitative maps using the spin-echo multi-slice sequence. Following immunostaining for glial fibrillary acidic protein, Iba-1, and amyloid-β, T1 and area fraction of staining were quantified in the posterior parietal and primary somatosensory cortex and corpus callosum...
October 26, 2016: Magma
https://www.readbyqxmd.com/read/27764008/primary-laryngotracheal-amyloidosis-with-bilateral-vocal-cord-involvement-and-associated-bronchiectasis
#19
Charles W Lanks, Timothy L Van Natta, David W Hsia
Localized tracheobronchial amyloidosis is a rare disease that results from submucosal deposition of insoluble amyloid proteins in the large airways. Amyloidosis affecting the larynx and subglottic space typically results in unilateral, nodular vocal cord infiltration. It rarely can present with bilateral vocal cord involvement and can progress to lifethreatening respiratory failure due to upper airway obstruction. In these patients, typical treatment modalities such as CO2 laser ablation are often ineffectual...
October 2016: Journal of Bronchology & Interventional Pulmonology
https://www.readbyqxmd.com/read/27752010/a-clinicopathologic-study-of-glomerular-disease-a-single-center-five-year-retrospective-study-from-northwest-india
#20
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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