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Amyloidosis

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https://www.readbyqxmd.com/read/28938416/pancreatic-histopathology-of-human-monogenic-diabetes-due-to-causal-variants-in-kcnj11-hnf1a-gata6-and-lmna
#1
May Sanyoura, Laura Jacobsen, David Carmody, Daniela Del Gaudio, Gorka Alkorta-Aranburu, Kelly Arndt, Ying Ying Hu, Frances Kobiernicki, Irina Kusmartseva, Mark A Atkinson, Louis H Philipson, Desmond Schatz, Martha Campbell-Thompson, Siri Atma W Greeley
Context: Monogenic diabetes is thought to account for 2% of all diabetes cases but most patients are misdiagnosed as type 1 or type 2 diabetes. To date, little is known about the histopathological features of pancreases from patients with monogenic diabetes. Objective: Retrospective study of the JDRF Network for Pancreatic Organ donors with Diabetes biorepository was used to identify possible cases with monogenic diabetes and to compare effects of genetic variants on pancreas histology...
August 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28937388/undiagnosed-senile-systemic-amyloidosis-with-mesenteric-angiopathy-leading-to-fatal-outcomes-two-case-series-with-a-review-of-literature
#2
Avneesh Gupta, Maryna Tarbunova, Anil Aggrawal, Anges E Aysola
Amyloid mesenteric angiopathy is difficult to diagnose as gastrointestinal (GI) signs are nonspecific and radiological studies rarely identify amyloid deposits with certainty. The objective of this study was to highlight the pathological findings of amyloid mesenteric angiopathy in cases of senile systemic amyloidosis. Literature review, author's research data, and practice experience were used. Systemic amyloidosis should be considered in the differential diagnoses when evaluating nonspecific and unexplained GI in patient population aged> 55 years to decrease the morbidity and fatal outcomes...
July 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28935176/current-insight-in-the-localized-insulin-derived-amyloidosis-lida-clinico-pathological-characteristics-and-differential-diagnosis
#3
REVIEW
Amir Mehdi Ansari, Lais Osmani, Aerielle E Matsangos, Qing K Li
BACKGROUND: In diabetic patients, subcutaneous insulin injection may cause several types of injection site-related lesions, such as lipoatrophy, insulin-induced cutaneous lipohypertrophy (IICL), allergic reaction, and iatrogenic localized insulin-derived amyloidosis (LIDA). Among these complications, both IICL and LIDA present as tumor-like and slow growing lesions; and they may be confused with one another. The clinical implication and management of IICL and LIDA are different. LIDA causes poor blood glycemic controls due to inadequate absorption of the insulin...
September 1, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28928748/a-peptide-fc-opsonin-with-pan-amyloid-reactivity
#4
James S Foster, Angela D Williams, Sallie Macy, Tina Richey, Alan Stuckey, Daniel Craig Wooliver, Richa Koul-Tiwari, Emily B Martin, Stephen J Kennel, Jonathan S Wall
There is a continuing need for therapeutic interventions for patients with the protein misfolding disorders that result in systemic amyloidosis. Recently, specific antibodies have been employed to treat AL amyloidosis by opsonizing tissue amyloid deposits thereby inducing cell-mediated dissolution and organ improvement. To develop a pan-amyloid therapeutic agent, we have produced an Fc-fusion product incorporating a peptide, p5, which binds many if not all forms of amyloid. This protein, designated Fcp5, expressed in mammalian cells, forms the desired bivalent dimer structure and retains pan-amyloid reactivity similar to the p5 peptide as measured by immunosorbent assays, immunohistochemistry, surface plasmon resonance, and pulldown assays using radioiodinated Fcp5...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28926601/utility-of-abdominal-skin-plus-subcutaneous-fat-and-rectal-mucosal-biopsy-in-the-diagnosis-of-al-amyloidosis-with-renal-involvement
#5
Ting Li, Xianghua Huang, Shuiqin Cheng, Liang Zhao, Guisheng Ren, Wencui Chen, Qingwen Wang, Caihong Zeng, Zhihong Liu
OBJECTIVES: Skin fat biopsy of the abdominal wall is a simple and safe method for detecting amyloidosis, and rectal mucosal biopsy is also frequently used for screening for the disease; however, the sensitivity of these approaches has not been fully studied. The aim of this study was to evaluate the efficacy of skin fat biopsy combined with rectal mucosal biopsy as a screening procedure for the diagnosis of systemic immunoglobulin light-chain (AL) amyloidosis. METHODS: We retrospectively analyzed 224 AL amyloidosis patients confirmed by renal biopsy, including a test group of 165 patients and validation group of 59 patients...
2017: PloS One
https://www.readbyqxmd.com/read/28926523/familial-mediterranean-fever-is-associated-with-increased-mortality-after-kidney-transplantation-a-19-years-single-center-experience
#6
Hefziba Green, Shelly Lichtenberg, Ruth Rahamimov, Avi Livneh, Avry Chagnac, Eytan Mor, Benaya Rozen-Zvi
BACKGROUND: Current data regarding the outcome of kidney transplantation in patients with familial Mediterranean fever (FMF) who reach end-stage renal disease (ESRD) due to reactive amyloidosis A (AA) are scarce and inconclusive. METHODS: The outcomes of 20 patients with FMF and biopsy-proven AA amyloidosis that were transplanted between 1995 and 2014 were compared with 82 control patients (32 with diabetes mellitus and 50 with nondiabetic kidney disease). Major outcome data included overall patient and graft survivals...
October 2017: Transplantation
https://www.readbyqxmd.com/read/28924445/the-first-argentinian-family-with-familial-amyloidosis-of-the-finnish-type
#7
Francisco Lucero Saá, Federico Andrés Cremona, Natalia Ximena Mínguez, María Laura Igarzabal, Pablo Chiaradía
Familial amyloidosis of the Finnish type or Meretoja syndrome is a rare autosomic dominant inherited systemic condition. It was first described by Meretoja in Finland in 1969. It is a disease produced by a single mutation in the gene coding for gelsolin, which generates an abnormal protein that cumulates in tissues and leads to various signs. Obtaining an early diagnosis can be challenging, as the first manifestations of the disease are ophthalmological and may only be seen with slit-lamp biomicroscopy. We present the first 3 cases diagnosed in Argentina, confirmed by genetic molecular testing...
May 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28922609/serum-proteomic-variability-associated-with-clinical-phenotype-in-familial-transthyretin-amyloidosis-attrm
#8
Gloria G Chan, Clarissa M Koch, Lawreen H Connors
Transthyretin (TTR), normally a plasma circulating protein, can become misfolded and aggregated, ultimately leading to extracellular deposition of amyloid fibrils usually targeted to heart or nerve tissues. Referred to as TTR-associated amyloidoses (ATTR), this group of diseases is frequently life threatening and fatal if untreated. ATTR, caused by amyloid-forming variant TTR proteins (ATTRm) which arise from point mutations in the TTR gene, were classically referred to as familial amyloid cardiomyopathy (FAC) or familial amyloid polyneuropathy (FAP) reflecting the clinical phenotype...
September 18, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28920786/cryptococcus-neoformans-var-grubii-associated-renal-amyloidosis-causing-protein-losing-nephropathy-in-a-red-kangaroo-macropus-rufus
#9
Mary Irene Thurber, Jenessa Gjeltema, Matthew Sheley, Ray F Wack
A 10-year-old male castrated red kangaroo (Macropus rufus) presented with mandibular swelling. Examination findings included pitting edema with no dental disease evident on examination or radiographs. The results of blood work were moderate azotemia, hypoalbuminemia, and severely elevated urine protein:creatinine ratio (9.9). Radiographs showed an interstitial pattern of the caudal right lung, and an abdominal ultrasound demonstrated scant effusion. Symptomatic and empirical therapy with antibiotics, anti-inflammatory drugs, and an angiotensin-converting enzyme (ACE) inhibitor did not resolve clinical signs...
September 2017: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/28920684/stilbene-boronic-acids-form-a-covalent-bond-with-human-transthyretin-and-inhibit-its-aggregation
#10
Thomas P Smith, Ian W Windsor, Katrina T Forest, Ronald T Raines
Transthyretin (TTR) is a homotetrameric protein. Its dissociation into monomers leads to the formation of fibrils that underlie human amyloidogenic diseases. The binding of small molecules to the thyroxin-binding sites in TTR stabilizes the homotetramer and attenuates TTR amyloidosis. Herein, we report on boronic acid-substituted stilbenes that limit TTR amyloidosis in vitro. Assays of affinity for TTR and inhibition of its tendency to form fibrils were coupled with X-ray crystallographic analysis of nine TTR·ligand complexes...
September 18, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28920433/fluorotryptophan-incorporation-modulates-the-structure-and-stability-of-transthyretin-in-a-site-specific-manner
#11
Xun Sun, H Jane Dyson, Peter E Wright
Abnormal deposition of aggregated wild-type (WT) human transthyretin (TTR) and its pathogenic variants is responsible for cardiomyopathy and neuropathy related to TTR amyloidosis. The tryptophan (Trp) fluorescence measurements typically used to study structural changes of TTR do not yield site-specific information on the two Trp residues per TTR protomer. To obtain such information, tryptophan labeled with fluorine at the 5 and 6 positions (5FW and 6FW) was incorporated into TTR. Fluorescence of 5FW and 6FW-labeled WT-TTR (WT-5FW and WT-6FW) and a single-Trp mutant W41Y showed that the photophysics of incorporated fluoro-Trp is consistent with site-specific solvation of the indole ring of W41 and W79...
September 18, 2017: Biochemistry
https://www.readbyqxmd.com/read/28919633/clinical-presentation-and-outcomes-in-light-chain-amyloidosis-patients-with-non-evaluable-serum-free-light-chains
#12
S Sidana, N Tandon, A Dispenzieri, M A Gertz, F K Buadi, M Q Lacy, D Dingli, A L Fonder, S R Hayman, M A Hobbs, W I Gonsalves, Y L Hwa, P Kapoor, R A Kyle, N Leung, R S Go, J A Lust, S J Russell, S R Zeldenrust, V Rajkumar, S K Kumar
Hematologic response criteria in light chain (AL) amyloidosis require the difference in involved and uninvolved free light chains (dFLC) to be at least 5 mg/dl. We describe the clinical presentation and outcomes of newly diagnosed amyloidosis patients with dFLC<5 mg/dl (non-evaluable dFLC; 14%, n=165) compared to patients with dFLC ⩾5 mg/dl (evaluable dFLC; 86%, n=975). Patients with non-evaluable dFLC had less cardiac involvement (40 vs 80%, P<0.001), less liver involvement (11 vs 17%, P=0.04) and a trend towards less gastrointestinal involvement (18 vs 25%, P=0...
September 18, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28917690/apical-to-base-gradient-of-technetium-99m-pyrophosphate-myocardial-counts-in-cardiac-amyloidosis-an-insight-into-the-mechanism-of-myocardial-strain-gradient-or-merely-clouds-that-mimic-land-before-the-sailor-s-eye
#13
EDITORIAL
https://www.readbyqxmd.com/read/28917675/regional-variation-in-technetium-pyrophosphate-uptake-in-transthyretin-cardiac-amyloidosis-and-impact-on%C3%A2-mortality
#14
Brett W Sperry, Michael N Vranian, Albree Tower-Rader, Rory Hachamovitch, Mazen Hanna, Richard Brunken, Dermot Phelan, Manuel D Cerqueira, Wael A Jaber
OBJECTIVES: This study sought to investigate the regional uptake of technetium 99m-pyrophosphate (TcPYP) in transthyretin cardiac amyloidosis (ATTR) and its association with mortality. BACKGROUND: TcPYP nuclear scintigraphy is a diagnostic and prognostic tool in ATTR. Echocardiography has identified a pattern of regional variation in longitudinal strain (LS) with a gradient of improved strain from base to apex in ATTR. METHODS: Consecutive patients with ATTR were evaluated who underwent TcPYP nuclear scintigraphy with planar and attenuation corrected single-photon emission computed tomography (SPECT)...
September 9, 2017: JACC. Cardiovascular Imaging
https://www.readbyqxmd.com/read/28916410/kinetic-stability-and-sequence-structure-studies-of-urine-derived-bence-jones-proteins-from-multiple-myeloma-and-light-chain-amyloidosis-patients
#15
Luis M Blancas-Mejía, Emily B Martin, Angela Williams, Jonathan S Wall, Marina Ramirez-Alvarado
It is now accepted that the ability of a protein to form amyloid fibrils could be associated both kinetic and thermodynamic protein folding parameters. A recent study from our laboratory using recombinant full-length (encompassing the variable and constant domain) immunoglobulin light chains found a strong kinetic control of the protein unfolding for these proteins. In this study, we are extending our analysis by using urine-derived Bence Jones proteins (BJPs) from five patients with light chain (AL) amyloidosis and four patients with multiple myeloma (MM)...
September 1, 2017: Biophysical Chemistry
https://www.readbyqxmd.com/read/28912854/comparative-proteomics-analysis-of-primary-cutaneous-amyloidosis
#16
Daxing Cai, Yang Li, Chunlei Zhou, Yulin Jiang, Jian Jiao, Lin Wu
Primary cutaneous amyloidosis (PCA) is a localized skin disorder that is characterized by the abnormal deposition of amyloid in the extracellular matrix (ECM) of the dermis. The pathogenesis of PCA is poorly understood. The objective of the present study was to survey proteome changes in PCA lesions in order to gain insight into the molecular basis and pathogenesis of PCA. Total protein from PCA lesions and normal skin tissue samples were extracted and analyzed using the isobaric tags for relative and absolute quantitation technique...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28912185/restrictive-cardiomyopathy-genetics-pathogenesis-clinical-manifestations-diagnosis-and-therapy
#17
REVIEW
Eli Muchtar, Lori A Blauwet, Morie A Gertz
Restrictive cardiomyopathy (RCM) is characterized by nondilated left or right ventricle with diastolic dysfunction. The restrictive cardiomyopathies are a heterogenous group of myocardial diseases that vary according to pathogenesis, clinical presentation, diagnostic evaluation and criteria, treatment, and prognosis. In this review, an overview of RCMs will be presented followed by a detailed discussion on 3 major causes of RCM, for which tailored interventions are available: cardiac amyloidosis, cardiac sarcoidosis, and cardiac hemochromatosis...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28912154/inhibition-of-p25-cdk5-attenuates-tauopathy-in-mouse-and-ipsc-models-of-frontotemporal-dementia
#18
Jinsoo Seo, Oleg Kritskiy, L Ashley Watson, Scarlett J Barker, Dilip Dey, Waseem K Raja, Yuan-Ta Lin, Tak Ko, Sukhee Cho, Jay Penney, M Catarina Silva, Steven D Sheridan, Diane Lucente, James F Gusella, Bradford C Dickerson, Stephen J Haggarty, Li-Huei Tsai
Increased p25, a proteolytic fragment of the regulatory subunit p35, is known to induce aberrant activity of cyclin-dependent kinase 5 (Cdk5), which is associated with neurodegenerative disorders including Alzheimer's disease (AD). Previously, we showed that replacing endogenous p35 with the non-cleavable mutant p35 (Δp35) attenuated amyloidosis and improved cognitive function in a familial AD mouse model. Here, to address the role of p25/Cdk5 in tauopathy, we generated double transgenic mice by crossing mice overexpressing mutant human tau (P301S) with Δp35KI mice...
September 14, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28911993/ocular-manifestations-of-familial-transthyretin-amyloidosis
#19
Margaret M Reynolds, Kevin K Veverka, Morie A Gertz, Angela Dispenzieri, Steven R Zeldenrust, Nelson Leung, Jose S Pulido
PURPOSE: Among patients with familial amyloidosis, mutation in the transthyretin (TTR) protein is the most common type. Patients with TTR amyloidosis have been noted to have ocular, especially vitreous, involvement. In this report, an analysis of the types and frequency of ocular manifestations in TTR amyloidosis is presented. DESIGN: Observational case series. METHODS: Two hundred and sixty-three patients who presented to Mayo Clinic with TTR amyloidosis between January 1, 1970, and November 1, 2014, consented to be included in the Mayo Clinic amyloidosis database maintained by the Department of Hematology...
September 11, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28910817/the-lung-in-dysregulated-states-of-humoral-immunity
#20
Yurdagül Uzunhan, Florence Jeny, Marianne Kambouchner, Morgane Didier, Diane Bouvry, Hilario Nunes, Jean-François Bernaudin, Dominique Valeyre
In common variable immunodeficiency, lung manifestations are related to different mechanisms: recurrent pneumonias due to encapsulated bacteria responsible for diffuse bronchiectasis, diffuse infiltrative pneumonia with various patterns, and lymphomas, mostly B cell extranodal non-Hodgkin type. The diagnosis relies on significant serum Ig deficiency and the exclusion of any primary or secondary cause. Histopathology may be needed. Immunoglobulin (IgG) replacement is crucial to prevent infections and bronchiectasis...
September 15, 2017: Respiration; International Review of Thoracic Diseases
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