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Amyloidosis

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https://www.readbyqxmd.com/read/28098102/evaluation-of-renal-lesions-and-clinicopathologic-correlation-in-rheumatoid-arthritis
#1
Periyasamy Muthukumar, Jeyachandran Dhanapriya, Natarajan Gopalakrishnan, Thanigachalam Dineshkumar, Ramanathan Sakthirajan, T Balasubramaniyan
The most common causes of renal disease in rheumatoid arthritis (RA) are glomerulonephritis (GN), amyloidosis, tubulo-interstitial nephritis, and drug toxicity. Our aim was to evaluate the clinicopathologic correlation of renal lesions and to assess the course and prognosis of renal disease in patients with RA. We conducted a prospective observational study in all adult patients with RA between July 2010 and June 2015. The total number of patients studied was 90, with a female:male ratio of 2.3:1. Mean follow-up duration was 30 ± 6...
January 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28097620/seminal-tract-amyloidosis-synchronous-amyloidosis-of-the-seminal-vesicles-deferent-ducts-and-ejaculatory-ducts
#2
Lea Rath-Wolfson, Golan Bubis, Shmuel Shtrasburg, Asaf Shvero, Rumelia Koren
Senile Seminal Vesicle Amyloidosis (SSVA) increases with age. Involvement of the whole seminal tract, i.e. the seminal vesicles, ejaculatory and deferent ducts was first reported by us in the International Symposium on Amyloidosis 1998. Since then we encountered four more cases of SSVA. In all these cases the ejaculatory and deferent ducts were also involved by amyloid. The amyloid was located mostly sub-epithelially, stained positively with Congo red, gave green birefringence under polarized light and was permanganate sensitive, slightly positive for lactoferrin immunostaining and negative for all known amyloid types...
January 17, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28095562/the-efficacy-of-q-switched-nd-yag-1064-nm-laser-in-recalcitrant-macular-amyloidosis-a-case-report
#3
Nevil Khurana, Christine Urman
Macular amyloidosis typically presents as small, dusky-brown or greyish pigmented macules, the result of altered keratin deposition. Treatment of these hyperpigmented regions with topical and systemic therapies remains challenging, however Q-Switched neodymi- um-doped yttrium aluminum garnet (ND:YAG) laser has proven to be an effective treatment modality to reduce hyperpigmentation. In this case report we investigated the ef cacy of Q-Switched Nd:YAG laser treatment on a 34-year old woman with recalcitrant macular amyloidosis who failed to respond to over-the-counter bleaching creams...
November 1, 2016: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/28093848/one-mutation-two-distinct-disease-variants-unravelling-the-impact-of-transthyretin-amyloid-fibril-composition
#4
REVIEW
O B Suhr, E Lundgren, P Westermark
Although hereditary transthyretin (h-ATTR) amyloidosis is a monogenetic disease, a large variation in its phenotype has been observed. The common hypothesis of amyloid fibril formation involves dissociation of the transthyretin (TTR) tetramer into monomers that after misfolding reassemble into amyloid fibrils. This notion is partly challenged by the finding of two distinct types of amyloid fibrils. One of these, type A, consists of C-terminal ATTR fragments and full-length TTR, whereas the other, type B, consists only of full-length TTR...
January 17, 2017: Journal of Internal Medicine
https://www.readbyqxmd.com/read/28090046/an-isolated-case-of-late-onset-amyloidogenic-transthyretin-type-familial-amyloid-polyneuropathy-associated-with-a-mutant-transthyretin-substituting-methionine-for-valine-at-position-30-showing-latent-progressive-cardiac-involvement-confirmed-by-serial-annual
#5
Chikako Sato, Tomofumi Takaya, Shumpei Mori, Kohei Hasegawa, Fumitaka Soga, Hidekazu Tanaka, Yoshiaki Watanabe, Tatsuya Nishii, Atsushi K Kono, Yukiko Morinaga, Hatsue Ishibashi-Ueda, Ken-Ichi Hirata
Late-onset amyloidogenic transthyretin (ATTR) type familial amyloid polyneuropathy (FAP) shows features distinct from those of early-onset hereditary ATTR type FAP. We herein describe an asymptomatic 68-year-old man with late-onset ATTR type FAP whose serial annual electrocardiograms demonstrated progressive left bundle branch block. Latent but severe cardiac involvement seems to be one feature of late-onset ATTR type FAP, similar to senile systemic amyloidosis (SSA). Early differential diagnosis of late-onset ATTR type FAP from SSA is important because, currently, only the former has new therapeutic options available in Japan...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28090011/cardiac-amyloidosis-associated-with-amyloidogenic-transthyretin-v122i-variant-in-an-elderly-japanese-woman
#6
Tsuneaki Yoshinaga, Masahide Yazaki, Masakazu Ohno, Satoshi Kodama, Jun Koyama, Yoshiki Sekijima
No abstract text is available yet for this article.
January 14, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28087478/renal-involvement-in-lysinuric-protein-intolerance-contribution-of-pathology-to-assessment-of-heterogeneity-of-renal-lesions
#7
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/28079687/periocular-amyloidosis-manifesting-as-pseudopemphigoid-treated-with-mitomycin-c
#8
Kaveh Vahdani, Vladimir T Thaller, Giorgio Albanese, Andrew F Dean
PURPOSE: To describe an unusual cicatrizing manifestation of periocular amyloid and the utility of adjuvant antimetabolite therapy. METHODS: This is a case report of a 49-year old woman with progressive bilateral upper lid ptosis, who was found to have bilateral inferior forniceal masses with thickening of the conjunctiva. Conjunctival and eyelid biopsies showed evidence of amyloid deposition. Systemic evaluation did not reveal any evidence of systemic amyloidosis...
January 11, 2017: Cornea
https://www.readbyqxmd.com/read/28079503/novel-evidences-of-atypical-manifestations-in-cryopyrin-associated-periodic-syndromes
#9
Segundo Bujan-Rivas, Maria Basagaña, Francisca Sena, Maria Méndez, Maria Teresa Dordal, Eva Gonzalez-Roca, Estibaliz Ruiz-Ortiz, Anna Mensa-Vilaró, Susana Plaza, Consuelo Modesto, Josep Ordi-Ros, Jordi Yagüe, Ferrán Martínez-Valle, Juan Ignacio Aróstegui
OBJECTIVES: Cryopyrin-associated periodic syndromes (CAPS) usually start during infancy as an urticarial-like rash and a marked acute phase response, with additional manifestations appearing during its evolution. The aim of this study was to expand the clinical diversity of CAPS by the description of novel atypical features. METHODS: Clinical data were collected from patients' medical charts. Sanger sequencing analyzed NLRP3. Response to anti-IL-1 blockade was evaluated by clinical assessments and by measurements of laboratory parameters...
January 9, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28078835/pathological-characteristics-of-fifty-patients-with-renal-amyloidosis-in-sri-lanka
#10
D L Dasanayaka, S Wijetunge, N V Ratnatunga
Renal involvement is the most important cause of morbidity and mortality in systemic amyloidosis. This retrospective analysis was conducted to analyse the clinico-pathological characteristics of renal amyloidosis in a group of Sri Lankan patients undergoing renal biopsy. Renal amyloidosis was observed in 50/ 9712 (0.5%) renal biopsies. The underlying cause for amyloidosis was not known in most. Of the known causes multiple myeloma was the commonest. Nephrotic range proteinuria was the most common clinical outcome and most had grade I to III chronic kidney disease at the time of diagnosis...
30, 2016: Ceylon Medical Journal
https://www.readbyqxmd.com/read/28076615/lichen-amyloidosis-associated-with-rheumatoid-arthritis-unique-presentation-in-a-bulgarian-patient
#11
Georgi Tchernev, Anastasiya Atanasova Chokoeva, Uwe Wollina
No abstract text is available yet for this article.
January 5, 2017: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/28076605/isolated-primary-amyloidosis-of-the-inferior-rectus-muscle-mimicking-graves-orbitopathy
#12
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/28074646/differences-in-protein-concentration-dependence-for-nucleation-and-elongation-in-light-chain-amyloid-formation
#13
Luis Miguel Blancas-Mejía, Pinaki Misra, Marina Ramirez-Alvarado
Light chain (AL) amyloidosis is a lethal disease characterized by the deposition of the immunoglobulin light chain into amyloid fibrils, resulting in organ dysfunction and failure. Amyloid fibrils have the ability to self-propagate recruiting soluble protein into the fibril by a nucleation-polymerization mechanism, characteristic of auto-catalytic reactions. Experimental data suggest the existence of a critical concentration to initiate fibril formation. As such, the initial concentration of soluble amyloidogenic protein is expected to have a profound effect on the rate of fibril formation...
January 11, 2017: Biochemistry
https://www.readbyqxmd.com/read/28074147/cerebellar-ataxia-and-sensory-ganglionopathy-associated-with-light-chain-myeloma
#14
Panagiotis Zis, Dasappaiah Ganesh Rao, Bart E Wagner, Lucinda Nicholson-Goult, Nigel Hoggard, Marios Hadjivassiliou
BACKGROUND: Cerebellar ataxia with sensory ganglionopathy is a rare neurological combination that can occur in some hereditary ataxias including mitochondrial diseases and in gluten sensitivity. Individually each condition can be a classic paraneoplastic neurological syndrome. We report a patient with this combination who was diagnosed with light-chain myeloma ten years after initial presentation. CASE PRESENTATION: A 65-year-old Caucasian lady was referred to our Ataxia Clinic because of a 6-year history of progressive unsteadiness and a 2-year history of slurred speech...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28073516/early-diagnosis-of-systemic-amyloidosis-by-means-of-a-transverse-carpal-ligament-biopsy-carried-out-during-carpal-tunnel-syndrome-surgery
#15
Judit Fernández Fuertes, Óscar Rodríguez Vicente, Sergio Sánchez Herráez, Luis Rafael Ramos Pascua
INTRODUCTION AND OBJECTIVE: The systematic analysis of a carpal transverse ligament (CTL) sample obtained during routine carpal tunnel syndrome (CTS) surgery may constitute a method of early diagnosis for systemic amyloidosis. MATERIAL AND METHODS: Prospective study carried out on 147 consecutive CTL samples collected from patients intervened for CTS at the University Hospital of León from April 2006 to May 2007. In those cases in which amyloid deposition was observed in the CTL sample, the study was completed with a fine needle aspiration biopsy (FNAB) of the subcutaneous fascia, using the Red Congo stain in both cases...
January 7, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28070672/opposing-effects-of-progranulin-deficiency-on-amyloid-and-tau-pathologies-via-microglial-tyrobp-network
#16
Hideyuki Takahashi, Zoe A Klein, Sarah M Bhagat, Adam C Kaufman, Mikhail A Kostylev, Tsuneya Ikezu, Stephen M Strittmatter
Progranulin (PGRN) is implicated in Alzheimer's disease (AD) as well as frontotemporal lobar degeneration. Genetic studies demonstrate an association of the common GRN rs5848 variant that results in reduced PGRN levels with increased risk for AD. However, the mechanisms by which PGRN reduction from the GRN AD risk variant or mutation exacerbates AD pathophysiology remain ill defined. Here, we show that the GRN AD risk variant has no significant effects on florbetapir positron emission tomographic amyloid imaging and cerebrospinal fluid (CSF) Aβ levels, whereas it is associated with increased CSF tau levels in human subjects of the Alzheimer's disease neuroimaging initiative studies...
January 9, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28069318/right-ventricular-hypertrophy-systolic-function-and-disease-severity-in-anderson-fabry-disease-an-echocardiographic-study
#17
Francesca Graziani, Marianna Laurito, Maurizio Pieroni, Faustino Pennestrì, Gaetano Antonio Lanza, Valentina Coluccia, Antonia Camporeale, Daniela Pedicino, Elena Verrecchia, Raffaele Manna, Filippo Crea
BACKGROUND: Right ventricular (RV) involvement has been described in Anderson-Fabry disease (AFD), especially in patients with established Fabry cardiomyopathy (FC). However, few and controversial data on RV systolic function are available, and there are no specific tissue Doppler studies. METHODS: Detailed echocardiographic examinations were performed in 45 patients with AFD. FC, defined as maximal left ventricular wall thickness ≥ 15 mm, was present in 12...
January 6, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/28069203/drastic-acceleration-of-fibrillation-of-insulin-by-transient-cavitation-bubble
#18
Kichitaro Nakajima, Daisuke Nishioka, Masahiko Hirao, Masatomo So, Yuji Goto, Hirotsugu Ogi
Amyloid-fibril formation of proteins can be accelerated by ultrasonic irradiation to the peptide solutions. Although this phenomenon contributes to understanding pathogenic behavior of amyloidosis, its physical mechanism has not been clarified, because several factors (cavitation, temperature increase, stirring effect, and so on) related to ultrasonic irradiation can participate in the fibrillation reaction. Here, we independently study contributions of the possible factors, using insulin, which is extremely stable and then suitable for the mechanism clarification...
May 2017: Ultrasonics Sonochemistry
https://www.readbyqxmd.com/read/28065238/selection-of-biopsy-site-for-patients-with-systematic-amyloidosis
#19
Chun-Lan Zhang, Jun Feng, Xin-Xin Cao, Cong-Li Zhang, Kai-Ni Shen, Xu-Fei Huang, Lu Zhang, Dao-Bin Zhou, Jian Li
Objective To evaluate the sensitivities of various biopsy methods for the diagnosis of systematic amyloidosis (SA). Methods The clinical data and biopsy results of 194 SA patients who were treated in Peking Union Medical College Hospital from January 2009 to June 2015 were retrospectively analyzed. Results The highest sensitivity was achieved by biopsy of affected organs,with renal biopsy 97.4%,heart biopsy 95.0% and liver biopsy 87.5%. Among non-invasive biopsy methods,tongue biopsy was found to be 75% sensitive,followed by gingiva biopsy at 57%,abdominal fat pad aspiration at 57%,rectum biopsy at 16%,and bone marrow examination at 8%...
December 20, 2016: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/28063633/evaluation-of-myocardial-strain-in-patients-with-amyloidosis-using-cardiac-magnetic-resonance-feature-tracking
#20
Tarun Pandey, Sindhura Alapati, Vibhor Wadhwa, Mohan M Edupuganti, Pooja Gurram, Shelly Lensing, Kedar Jambhekar
PURPOSE: To study the use of cardiac magnetic resonance (CMR) feature tracking technique in evaluation of myocardial amyloidosis. MATERIALS AND METHODS: CMR scans of 28 patients with biopsy proven myocardial amyloidosis and 35 controls were reviewed. Conventional short axis, vertical long axis, and 4-chamber cine steady-state free precession images from CMR scans were used to generate radial, circumferential, and longitudinal myocardial strain maps using feature tracking software...
November 10, 2016: Current Problems in Diagnostic Radiology
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