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https://www.readbyqxmd.com/read/28813711/subjects-at-risk-for-genetic-late-onset-neurological-diseases-objective-knowledge
#1
Ângela Leite, Fernanda Leite, Maria Alzira P Dinis
BACKGROUND/AIMS: This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD). METHODS: Subjects at risk for FAP, HD, and MJD submitted to genetic counseling to know their status (carrier or non-carrier) and subjects at risk for hereditary hemochromatosis (HH), the control group, completed a sociodemographic questionnaire and answered the open-ended question: "What do you know about this disease?...
August 17, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28798722/autonomic-neuropathy-and-albuminocytologic-dissociation-in-cerebrospinal-fluid-as-the-presenting-features-of-primary-amyloidosis-a-case-report
#2
Jingjing Li, Yi Li, Hongbing Chen, Shihui Xing, Huiyu Feng, Dawei Liu, Dilong Wang, Jinsheng Zeng, Yuhua Fan
OBJECTIVE: Primary amyloidosis is a disease with a poor prognosis and multi-organ involvement. Here, we report the clinical and pathological features of a patient with primary amyloidosis featuring autonomic neuropathy as the initial symptom and albuminocytologic dissociation in the cerebrospinal fluid (CSF). METHODS: The patient was a 60-year-old Chinese male with numbness, orthostatic hypotension, and gastrointestinal symptoms. For diagnosis, we performed an electromyogram (EMG), lumbar puncture, Bence Jones protein urine test, serum electrophoresis blood test, sural nerve and rectal membrane biopsies, transthyretin (TTR) gene sequencing, and bone marrow puncture...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28780366/transthyretin-neuroprotection-in-alzheimer-s-disease-is-dependent-on-proteolysis
#3
Catarina S Silva, Jessica Eira, Carlos A Ribeiro, Ângela Oliveira, Mónica M Sousa, Isabel Cardoso, Márcia A Liz
The deposition of amyloid β peptide (Aβ) in the hippocampus is one of the major hallmarks of Alzheimer's disease, a neurodegenerative disorder characterized by memory loss and cognitive impairment. The modulation of Aβ levels in the brain results from an equilibrium between its production from the amyloid precursor protein and removal by amyloid clearance proteins, which might occur via enzymatic (Aβ-degrading enzymes) or nonenzymatic (binding/transport proteins) reactions. Transthyretin (TTR) is one of the major Aβ-binding proteins acting as a neuroprotector in AD...
July 15, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28767405/the-integrative-clinical-impact-of-tumor-infiltrating-t-lymphocytes-and-nk-cells-in-relation-to-b-lymphocyte-and-plasma-cell-density-in-esophageal-and-gastric-adenocarcinoma
#4
Maria C Svensson, Carl Fredrik Warfvinge, Richard Fristedt, Charlotta Hedner, David Borg, Jakob Eberhard, Patrick Micke, Björn Nodin, Karin Leandersson, Karin Jirström
BACKGROUND: Several studies have demonstrated a prognostic impact of tumor-infiltrating T lymphocytes and natural killer (NK) cells in esophageal and gastric adenocarcinoma, but whether these associations differ by the density of tumor-infiltrating immune cells of the B cell lineage remains largely unknown. RESULTS: High infiltration of any T and NK lymphocytes investigated was in general associated with a favorable prognosis, but the strongest beneficial prognostic impact was seen in combination with high B lymphocyte infiltration...
July 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/28762097/a-missense-variant-p-ala117ser-in-the-transthyretin-gene-of-a-han-chinese-family-with-familial-amyloid-polyneuropathy
#5
Qian Chen, Lamei Yuan, Xiong Deng, Zhijian Yang, Shengwang Zhang, Sheng Deng, Hongwei Lu, Hao Deng
Familial amyloid polyneuropathy (FAP) is a dominantly inherited disorder. This study aims to explore the genetic features of a Han Chinese family with FAP, characterized by bloating, alternating diarrhea and constipation, and weakness in his feet. Amyloid presented histologically in the vessel walls of hepatic portal area and nerves of the surgically excised liver specimens from the proband by hematoxylin and eosin staining. Amyloid deposition was further confirmed with Congo red treatment. A c.349G>T transversion (p...
July 31, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28760217/time-in-therapeutic-range-and-major-adverse-outcomes-in-atrial-fibrillation-patients-undergoing-percutaneous-coronary-intervention-the-atrial-fibrillation-undergoing-coronary-artery-stenting-afcas-registry
#6
Marco Proietti, K E Juhani Airaksinen, Andrea Rubboli, Axel Schlitt, Tuomas Kiviniemi, Pasi P Karjalainen, Gregory Yh Lip
BACKGROUND: Combination of oral anticoagulation (OAC) and antiplatelets is used in atrial fibrillation (AF) patients undergoing percutaneous coronary intervention and stent (PCI-S) procedure but is associated with increased bleeding when triple antithrombotic therapy (TAT) is used. Our aim was to analyze the impact of time in therapeutic range (TTR) on outcomes, in patients prescribed with TAT. METHODS: Ancillary analysis from the AFCAS registry in patients assigned to TAT...
August 2017: American Heart Journal
https://www.readbyqxmd.com/read/28748679/quality-of-anticoagulation-with-warfarin-in-korean-patients-with-atrial-fibrillation-and-prior-stroke-a-multicenter-retrospective-observational-study
#7
Keun Sik Hong, Yang Ki Kim, Hee Joon Bae, Hyo Suk Nam, Sun U Kwon, Oh Young Bang, Jae Kwan Cha, Byung Woo Yoon, Joung Ho Rha, Byung Chul Lee, Jong Moo Park, Man Seok Park, Jun Lee, Jay Chol Choi, Dong Eog Kim, Kyung Bok Lee, Tai Hwan Park, Ji Sung Lee, Seong Eun Kim, Juneyoung Lee
BACKGROUND AND PURPOSE: The quality of anticoagulation is critical for ensuring the benefit of warfarin, but this has been less well studied in Korean ischemic stroke patients with atrial fibrillation (AF). METHODS: This study retrospectively analyzed the data of patients who had an AF-related ischemic stroke and were treated with long-term warfarin therapy in 16 Korean centers. The quality of warfarin therapy was primarily assessed by the time in therapeutic range [TTR; international normalized ratio (INR), 2...
July 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28746220/copy-number-variations-of-neurotrophic-tyrosine-receptor-kinase-3-ntrk3-may-predict-prognosis-of-ovarian-cancer
#8
Li Ge, Ning Li, Mei Liu, Ning-Zhi Xu, Ming-Rong Wang, Ling-Ying Wu
Platinum resistance is a critical barrier for clinicians to improve the survival of ovarian cancer. Our study evaluated the correlation between copy number variations (CNVs) of neurotrophic tyrosine receptor kinase 3 (NTRK3) and the prognosis of ovarian cancer, which might predict platinum resistance in ovarian cancer patients.Array comparative genomic hybridization (CGH) was used to test gene backgrounds between platinum-sensitive and platinum-resistant relapsed populations and CNVs of NTRK3 were indicated by cluster analysis...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28745065/assessment-of-oral-anticoagulant-use-in-residents-of-long-term-care-homes-evidence-for-contemporary-suboptimal-use
#9
Carlos H Rojas-Fernandez, Joslin Goh, Jennifer Hartwick, Ruth Auber, Aein Zarrin, Melissa Warkentin, Zain Hudani
OBJECTIVE: To describe the quality of warfarin use in residents of long-term care facilities and investigate potential predictors oral anticoagulant use. DESIGN: Retrospective chart review (August 2013 to September 2014). SETTING: Thirteen long-term care (LTC) and assisted living facilities (ALF). PARTICIPANTS: Residents from LTC or ALF settings who ( a) received warfarin or direct-acting oral anticoagulants (DOACs) and ( b) residents with a valid indication for oral anticoagulants such as atrial fibrillation, venous thromboembolism, but were not receiving these drugs...
July 1, 2017: Annals of Pharmacotherapy
https://www.readbyqxmd.com/read/28739313/cardiac-amyloidosis-an-update-on-pathophysiology-diagnosis-and-treatment
#10
REVIEW
Omar K Siddiqi, Frederick L Ruberg
The amyloidoses are a group of systemic diseases characterized by organ deposition of misfolded protein fragments of diverse origins. The natural history of the disease, involvement of other organs, and treatment options vary significantly based on the protein of origin. In AL amyloidosis, amyloid protein is derived from immunoglobulin light chains, and most often involves the kidneys and the heart. ATTR amyloidosis is categorized as mutant or wild-type depending on the genetic sequence of the transthyretin (TTR) protein produced by the liver...
July 13, 2017: Trends in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28738273/factors-influencing-warfarin-control-in-australia-and-singapore
#11
Nijole Bernaitis, Chi Keong Ching, Siew Chong Teo, Liping Chen, Tony Badrick, Andrew K Davey, Julia Crilly, Shailendra Anoopkumar-Dukie
INTRODUCTION: Warfarin is widely used for patients with non-valvular atrial fibrillation (NVAF). Variations in warfarin control, as measured by time in therapeutic range (TTR), have been reported across different regions and ethnicities, particularly between Western and Asian countries. However, there is limited data on comparative factors influencing warfarin control in Caucasian and Asian patients. Therefore, the aim of this study was to determine warfarin control and potential factors influencing this in patients with NVAF in Australia and Singapore...
July 14, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28735551/quality-of-pharmacist-managed-anticoagulation-therapy-in-long-term-ambulatory-settings-a-systematic-review
#12
Beenish S Manzoor, Wei-Han Cheng, James C Lee, Ellen M Uppuluri, Edith A Nutescu
OBJECTIVE: To perform a systematic review to evaluate the quality of warfarin anticoagulation control in outpatient pharmacist-managed anticoagulation services (PMAS) compared with routine medical care (RMC). DATA SOURCES: MEDLINE, SCOPUS, EMBASE, IPA, CINAHL, and Cochrane CENTRAL, from inception to May 2017. Search terms employed: ("pharmacist-managed" OR "pharmacist-provided" OR "pharmacist-led" OR "pharmacist-directed") AND ("anticoagulation services" OR "anticoagulation clinic" OR "anticoagulation management" OR "anticoagulant care") AND ("quality of care" OR "outcomes" OR "bleeding" OR "thromboembolism" OR "mortality" OR "hospitalization" OR "length of stay" OR "emergency department visit" OR "cost" OR "patient satisfaction")...
July 1, 2017: Annals of Pharmacotherapy
https://www.readbyqxmd.com/read/28728693/broadening-the-phenotypic-spectrum-and%C3%A2-the-diagnostic-needs-of-ttr-related-cardiac-amyloidosis
#13
EDITORIAL
Claudio Rapezzi, Anna Laura Tinuper, Massimiliano Lorenzini
No abstract text is available yet for this article.
July 25, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28728692/magnetic-resonance-in-transthyretin%C3%A2-cardiac-amyloidosis
#14
Ana Martinez-Naharro, Thomas A Treibel, Amna Abdel-Gadir, Heerajnarain Bulluck, Giulia Zumbo, Daniel S Knight, Tushar Kotecha, Rohin Francis, David F Hutt, Tamer Rezk, Stefania Rosmini, Candida C Quarta, Carol J Whelan, Peter Kellman, Julian D Gillmore, James C Moon, Philip N Hawkins, Marianna Fontana
BACKGROUND: Cardiac transthyretin amyloidosis (ATTR) is an increasingly recognized cause of heart failure. Cardiac magnetic resonance (CMR), with late gadolinium enhancement (LGE) and T1 mapping, is emerging as a reference standard for diagnosis and characterization of cardiac amyloidosis. OBJECTIVES: The authors used CMR with extracellular volume fraction (ECV) measurement to characterize cardiac involvement in relation to outcome in ATTR. METHODS: Subjects comprised 263 patients with cardiac ATTR corroborated by grade 2 to 3 (99m)Tc-DPD ((99m)Tc-3,3-diphosphono-1,2-propanodicarboxylic acid) cardiac uptake, 17 with suspected cardiac ATTR (grade 1 (99m)Tc-DPD), and 12 asymptomatic individuals with amyloidogenic transthyretin (TTR) mutations...
July 25, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28722795/influence-of-renal-function-on-anticoagulation-control-in-patients-with-non-valvular-atrial-fibrillation-taking-vitamin-k-antagonists
#15
José M Lobos-Bejarano, Angel Castellanos Rodríguez, Vivencio Barrios, Carlos Escobar, José Polo-García, José Carlos Del Castillo-Rodríguez, Diego Vargas-Ortega, Adriana Lopez-Pineda, Luis Prieto-Valiente, Gregory Y H Lip
BACKGROUND AND PURPOSE: Chronic kidney disease (CKD) has been related to poor anticoagulation control and an increased risk of bleeding. This study aims to evaluate the association between impaired renal function (eGFR <60 mL/min/1.73 m(2) ) and anticoagulation control in patients with non-valvular atrial fibrillation (AF) on vitamin K antagonists (VKA) therapy. We also assessed whether the predictive value of the SAMe-TT2 R2 score prevailed for subgroups both with and without CKD...
July 19, 2017: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/28720541/biological-sources-of-variation-of-serum-adiponectin-among-healthy-individuals-in-comparison-with-related-nutritional-and-inflammatory-markers
#16
Yoshihisa Shimizu, Kiyoshi Ichihara, Katsuyuki Nakajima
BACKGROUND: Serum adiponectin (AN) is a nutritional and inflammatory marker of various diseases. Its biological sources of variation (SVs) have been widely evaluated, but its relationships with other related markers remain to be studied comprehensibly by use of multivariate analyses including factor analysis. METHODS: Serum specimens from 752 well-defined healthy subjects (295 males; 457 females) obtained from Japan, Hong Kong, Taiwan, and Vietnam were tested for total AN (tAN) and high-molecular-weight AN (hmAN) together with 71 major analytes...
July 15, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28719236/applying-an-artificial-neural-network-model-for-developing-a-severity-score-for-patients-with-hereditary-amyloid-polyneuropathy
#17
Shenia Novis, Felipe Machado, Victor B Costa, Debora Foguel, Marcia W Cruz, José Manoel de Seixas
Hereditary (familial) amyloid polyneuropathy (FAP) is a systemic disease that includes a sensorimotor polyneuropathy related to transthyretin (TTR) mutations. So far, a scale designed to classify the severity of this disease has not yet been validated. This work proposes the implementation of an artificial neural network (ANN) in order to develop a severity scale for monitoring the disease progression in FAP patients. In order to achieve this goal, relevant symptoms and laboratory findings were collected from 98 Brazilian patients included in THAOS - the Transthyretin Amyloidosis Outcomes Survey...
July 18, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28716239/acquired-transthyretin-amyloidosis-after-domino-liver-transplant-phenotypic-correlation-implication-of-liver-retransplantation
#18
Eli Muchtar, Martha Grogan, Surendra Dasari, Paul J Kurtin, Morie A Gertz
Reports of acquired ATTRm in domino liver transplant (DLT) recipients are infrequent and the approach to management is unknown. We describe two patients, an inherited ATTRm patient who underwent liver transplant and his liver recipient who developed acquired ATTRm 8years following transplantation. The clinical manifestations of amyloidosis were similar between patients and consisted of peripheral neuropathy, diarrhea and weight loss. Following liver transplantation, the DLT donor went into remission for 4years, but eventually progressed and died...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28713355/respiratory-pathways-reconstructed-by-multi-omics-analysis-in-melioribacter-roseus-residing-in-a-deep-thermal-aquifer-of-the-west-siberian-megabasin
#19
Sergey Gavrilov, Olga Podosokorskaya, Dmitry Alexeev, Alexander Merkel, Maria Khomyakova, Maria Muntyan, Ilya Altukhov, Ivan Butenko, Elizaveta Bonch-Osmolovskaya, Vadim Govorun, Ilya Kublanov
Melioribacter roseus, a representative of recently proposed Ignavibacteriae phylum, is a metabolically versatile thermophilic bacterium, inhabiting subsurface biosphere of the West-Siberian megabasin and capable of growing on various substrates and electron acceptors. Genomic analysis followed by inhibitor studies and membrane potential measurements of aerobically grown M. roseus cells revealed the activity of aerobic respiratory electron transfer chain comprised of respiratory complexes I and IV, and an alternative complex III...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28704493/evaluating-the-effect-of-mutations-and-ligand-binding-on-transthyretin-homotetramer-dynamics
#20
Tadeo E Saldaño, Giuseppe Zanotti, Gustavo Parisi, Sebastian Fernandez-Alberti
Native transthyretin (TTR) homotetramer dissociation is the first step of the fibrils formation process in amyloid disease. A large number of specific point mutations that destabilize TTR quaternary structure have shown pro-amyloidogenic effects. Besides, several compounds have been proposed as drugs in the therapy of TTR amyloidosis due to their TTR tetramer binding affinities, and therefore, contribution to its integrity. In the present paper we have explored key positions sustaining TTR tetramer dynamical stability...
2017: PloS One
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