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https://www.readbyqxmd.com/read/29036969/-risk-factors-prevalence-diagnosis-and-treatment-of-hypertrophic-cardiomyopathy-patients-complicating-with-atrial-fibrillation
#1
Z X Xu, W G Zhu, J Y Ma
No abstract text is available yet for this article.
September 24, 2017: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/29032433/diffuse-mesangial-sclerosis-in-a-pdss2-mutation-induced-coenzyme-q10-deficiency
#2
Béla Iványi, Gábor Z Rácz, Péter Gál, Kitti Brinyiczki, István Bódi, Tibor Kalmár, Zoltán Maróti, Csaba Bereczki
BACKGROUND: A 7-month-old male infant was admitted because he was suffering from nephrotic syndrome, along with encephalomyopathy, hypertrophic cardiomyopathy, clinically suspected deafness and retinitis pigmentosa, and an elevated serum lactate level. METHODS: Coenzyme Q10 supplementation was started because of the clinical suspicion of primary CoQ10 deficiency. Despite intensive efforts, he passed away 4 weeks after admission. RESULTS: The results of genetic tests, available postmortem, explored two hitherto undescribed mutations in the PDSS2 gene...
October 14, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29031174/dynamic-right-ventricular-outflow-obstruction-a-rare-cause-of-hypotension-during-anestesia-induction
#3
Maria Enrica Antoniucci, Christian Colizzi, Gabriella Arlotta, Maria Calabrese, Michele Corrado, Sergio Guarneri, Lorenzo Martinelli, Andrea Scapigliati, Roberto Zamparelli, Franco Cavaliere
INTRODUCTION: Dynamic obstruction of right ventricle outflow tract (RVOTO) is a rare condition that may acutely cause severe heart failure. It has been reported in some hypertrophic cardiomyopathies, after lung transplantation, and in some cases of hemodynamic instability after cardiopulmonary bypass. PRESENTATION OF CASE: We report the case of a 71-year-old man who developed severe hypotension during the induction of general anesthesia for surgical coronary revascularization...
October 5, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29030714/cyclic-fatigue-resistance-of-xp-endo-shaper-compared-with-different-nickel-titanium-alloy-instruments
#4
Amr Elnaghy, Shaymaa Elsaka
OBJECTIVE: The aims of this study were to assess and compare the resistance to cyclic fatigue of XP-endo Shaper (XPS; FKG Dentaire, La Chaux-de-Fonds, Switzerland) instruments with TRUShape (TRS; Dentsply Tulsa Dental Specialties, Tulsa, OK, USA), HyFlex CM (HCM; Coltene, Cuyahoga Falls, OH, USA), Vortex Blue (VB; Dentsply Tulsa Dental Specialties), and iRace (iR; FKG Dentaire) nickel-titanium rotary instruments at body temperature. MATERIALS AND METHODS: Size 30, 0...
October 13, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/29030407/hypertrophic-cardiomyopathy-gene-testing-go-big
#5
EDITORIAL
Megan J Puckelwartz, Elizabeth M McNally
No abstract text is available yet for this article.
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29030401/a-comparison-of-whole-genome-sequencing-to-multigene-panel-testing-in-hypertrophic-cardiomyopathy-patients
#6
Allison L Cirino, Neal K Lakdawala, Barbara McDonough, Lauren Conner, Dale Adler, Mark Weinfeld, Patrick O'Gara, Heidi L Rehm, Kalotina Machini, Matthew Lebo, Carrie Blout, Robert C Green, Calum A MacRae, Christine E Seidman, Carolyn Y Ho
BACKGROUND: As DNA sequencing costs decline, genetic testing options have expanded. Whole exome sequencing and whole genome sequencing (WGS) are entering clinical use, posing questions about their incremental value compared with disease-specific multigene panels that have been the cornerstone of genetic testing. METHODS AND RESULTS: Forty-one patients with hypertrophic cardiomyopathy who had undergone targeted hypertrophic cardiomyopathy genetic testing (either multigene panel or familial variant test) were recruited into the MedSeq Project, a clinical trial of WGS...
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29024504/high-validity-of-cardiomyopathy-diagnoses-in-western-sweden-1989-2009
#7
Carmen Basic, Annika Rosengren, Sandra Lindström, Maria Schaufelberger
AIM: Hospital discharges with a diagnosis of cardiomyopathy have more than doubled in Sweden since 1987. We validated the cardiomyopathy diagnoses over this time period to investigate that the increase was real and not a result of improved recognition of the diagnosis and better diagnostic methods. METHODS AND RESULTS: Every fifth year from 1989 to 2009, records for all patients with a cardiomyopathy diagnosis were identified by searching the local registers in three hospitals in Västra Götaland, Sweden...
October 11, 2017: ESC Heart Failure
https://www.readbyqxmd.com/read/29021349/activation-of-autophagy-ameliorates-cardiomyopathy-in-mybpc3-targeted-knockin-mice
#8
Sonia R Singh, Antonia T L Zech, Birgit Geertz, Silke Reischmann-Düsener, Hanna Osinska, Maksymilian Prondzynski, Elisabeth Krämer, Qinghang Meng, Charles Redwood, Jolanda van der Velden, Jeffrey Robbins, Saskia Schlossarek, Lucie Carrier
BACKGROUND: Alterations in autophagy have been reported in hypertrophic cardiomyopathy (HCM) caused by Danon disease, Vici syndrome, or LEOPARD syndrome, but not in HCM caused by mutations in genes encoding sarcomeric proteins, which account for most of HCM cases. MYBPC3, encoding cMyBP-C (cardiac myosin-binding protein C), is the most frequently mutated HCM gene. METHODS AND RESULTS: We evaluated autophagy in patients with HCM carrying MYBPC3 mutations and in a Mybpc3-targeted knockin HCM mouse model, as well as the effect of autophagy modulators on the development of cardiomyopathy in knockin mice...
October 2017: Circulation. Heart Failure
https://www.readbyqxmd.com/read/29020402/women-with-hypertrophic-cardiomyopathy-have-worse-survival
#9
Jeffrey B Geske, Kevin C Ong, Konstantinos C Siontis, Virginia B Hebl, Michael J Ackerman, David O Hodge, Virginia M Miller, Rick A Nishimura, Jae K Oh, Hartzell V Schaff, Bernard J Gersh, Steve R Ommen
Aims: Sex differences in hypertrophic cardiomyopathy (HCM) remain unclear. We sought to characterize sex differences in a large HCM referral centre population. Methods and results: Three thousand six hundred and seventy-three adult patients with HCM underwent evaluation between January 1975 and September 2012 with 1661 (45.2%) female. Kaplan-Meier survival curves were assessed via log-rank test. Cox proportional hazard regression analyses evaluated the relation of sex with survival...
September 8, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29018006/%C3%AE-galactosidase-a-genotype-n215s-induces-a-specific-cardiac-variant-of-fabry-disease
#10
Daniel Oder, Dan Liu, Kai Hu, Nurcan Üçeyler, Tim Salinger, Jonas Müntze, Kristina Lorenz, Reinhard Kandolf, Hermann-Josef Gröne, Claudia Sommer, Georg Ertl, Christoph Wanner, Peter Nordbeck
BACKGROUND: Hypertrophic cardiomyopathy is the most common type of cardiomyopathy, but many patients lack sarcomeric/myofilament mutations. We studied whether cardio-specific α-galactosidase A gene variants are misinterpreted as hypertrophic cardiomyopathy because of the lack of extracardiac organ involvement. METHODS AND RESULTS: All subjects who tested positive for the N215S genotype (n=26, 13 females, mean age 49±17 [range, 14-74] years) were characterized in this prospective monocentric longitudinal cohort study to determine genotype-specific clinical characteristics of the N215S (c...
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29017454/productivity-losses-and-public-finance-burden-attributable-to-breast-cancer-in-poland-2010-2014
#11
Błażej Łyszczarz, Ewelina Nojszewska
BACKGROUND: Apart from the health and social burden of the disease, breast cancer (BC) has important economic implications for the sick, health system and whole economy. There has been a growing interest in the economic aspects of breast cancer and analyses of the disease costs seem to be the most explored topic. However, the results from these studies are hardly comparable. With this study we aim to contribute to the field by providing estimates of productivity losses and public finance burden attributable to BC in Poland...
October 10, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29016960/validation-of-the-hcm-risk-scd-model-in-patients-with-hypertrophic-cardiomyopathy-following-alcohol-septal-ablation
#12
Max Liebregts, Lothar Faber, Morten K Jensen, Pieter A Vriesendorp, Peter R Hansen, Hubert Seggewiss, Dieter Horstkotte, Radka Adlova, Michelle Michels, Henning Bundgaard, Jurriën M Ten Berg, Josef Veselka
Aims: The HCM Risk-SCD model for prediction of sudden cardiac death (SCD) in hypertrophic cardiomyopathy recommended by the 2014 European Society of Cardiology (ESC) guidelines has not been validated after septal reduction therapy. The aim of this study was to validate the HCM Risk-SCD model in patients undergoing alcohol septal ablation (ASA) and to compare its performance to previous models. Methods and result: A total of 844 ASA patients without prior SCD event were included...
September 18, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28993567/reference-intervals-and-allometric-scaling-of-two-dimensional-echocardiographic-measurements-in-150-healthy-cats
#13
Schober Karsten, Savino Stephanie, Yildiz Vedat
The objective of the study was to evaluate the effects of body weight (BW), breed, and sex on two-dimensional (2D) echocardiographic measures, reference ranges, and prediction intervals using allometrically-scaled data of left atrial (LA) and left ventricular (LV) size and LV wall thickness in healthy cats. Study type was retrospective, observational, and clinical cohort. 150 healthy cats were enrolled and 2D echocardiograms analyzed. LA diameter, LV wall thickness, and LV dimension were quantified using three different imaging views...
October 6, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28986458/pathogenicity-of-hypertrophic-cardiomyopathy-variants-a-path-forward-together
#14
EDITORIAL
Jodie Ingles, Charlotte Burns, Birgit Funke
No abstract text is available yet for this article.
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28986452/care-in-specialized-centers-and-data-sharing-increase-agreement-in-hypertrophic-cardiomyopathy-genetic-test-interpretation
#15
Aisha Furqan, Patricia Arscott, Francesca Girolami, Allison L Cirino, Michelle Michels, Sharlene M Day, Iacopo Olivotto, Carolyn Y Ho, Euan Ashley, Eric M Green, Colleen Caleshu
BACKGROUND: Clinically impactful differences in the interpretation of genetic test results occur between laboratories and clinicians. To improve the classification of variants, a better understanding of why discrepancies occur and how they can be reduced is needed. METHODS AND RESULTS: We examined the frequency, causes, and resolution of discordant variant classifications in the Sarcomeric Human Cardiomyopathy Registry (SHaRe), a consortium of international centers with expertise in the clinical management and genetic architecture of hypertrophic cardiomyopathy...
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28986271/the-subclinical-cardiomyopathy-of-friedreich-s-ataxia-in-a-pediatric-population
#16
Jonathan F Plehn, Keren Hasbani, Inez Ernst, Kenneth D Horton, Bart E Drinkard, Nicholas A Di Prospero
BACKGROUND: Identification of a subclinical cardiomyopathy in a pediatric patients with Friedreich's ataxia (FA) has not been well-described. METHODS: We performed echocardiography (echo), cardiac magnetic resonance imaging (cMRI) and neurologic assessment in a cross-sectional analysis of 48 genetically-confirmed FA subjects aged 9-17 years with moderate neurologic impairment but without a cardiovascular history. Echo and cMRI-determined left ventricular mass were indexed to height in g/m2...
October 3, 2017: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/28984473/the-continuing-evolution-of-cardiac-troponin-i-biomarker-analysis-from-protein-to-proteoform
#17
Daniel Soetkamp, Koen Raedschelders, Mitra Mastali, Kimia Sobhani, C Noel Bairey-Merz, Jennifer Van Eyk
The troponin complex consists of three proteins that fundamentally couple excitation with contraction. Circulating cardiac-specific Troponin I (cTnI) serves as diagnostic biomarker tools for risk stratification of acute coronary syndromes and acute myocardial infarction (MI). Within the heart, cTnI oscillates between inactive and active conformations to either block or disinhibit actinomyosin formation. This molecular mechanism is fine-tuned through extensive protein modifications whose profiles are maladaptively altered with co-morbidities including hypertrophic cardiomyopathy, diabetes, and heart failure...
October 6, 2017: Expert Review of Proteomics
https://www.readbyqxmd.com/read/28981461/reductive-stress-in-inflammation-associated-diseases-and-the-pro-oxidant-effect-of-antioxidant-agents
#18
REVIEW
Israel Pérez-Torres, Verónica Guarner-Lans, María Esther Rubio-Ruiz
Abstract: Reductive stress (RS) is the counterpart oxidative stress (OS), and can occur in response to conditions that shift the redox balance of important biological redox couples, such as the NAD⁺/NADH, NADP⁺/NADPH, and GSH/GSSG, to a more reducing state. Overexpression of antioxidant enzymatic systems leads to excess reducing equivalents that can deplete reactive oxidative species, driving the cells to RS. A feedback regulation is established in which chronic RS induces OS, which in turn, stimulates again RS...
October 5, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28978610/does-quality-of-life-outweigh-the-cardiovascular-risks-of-stimulant-medication-in-a-child-with-adhd-and-hypertrophic-cardiomyopathy
#19
Emily Senderey, John Sousa, Mark Stavitsky
A 10-year-old girl with attention-deficit hyperactivity disorder (ADHD) is diagnosed with hypertrophic cardiomyopathy. The stimulant medications used to control her ADHD pose possibly fatal risks to her cardiovascular health, so stimulant medication is stopped. Due to very poor quality of life off of medication, alternative therapies are used without improvement. The patient's caretakers decide that the benefits of stimulant medication outweigh the risks to the patient. The healthcare team clears the patient to be put back on stimulant medication with a signed waiver of liability by her caretakers...
October 4, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28977571/tacrolimus-induced-hypertrophic-cardiomyopathy-in-a-patient-with-dermatomyositis
#20
Kentaro Noda, Taro Ukichi, Kazuhiro Furuya, Ken Yoshida, Isamu Kingetsu, Toshikazu Tanaka, Daitaro Kurosaka
No abstract text is available yet for this article.
August 2, 2017: Rheumatology
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