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Cantu cardiac

Harry Pachajoa, William López-Quintero, Sara Vanegas, Claudia L Montoya, Diana Ramírez-Montaño
Introduction: Mutations in ABCC9 are associated with Cantú syndrome (CS), a very rare genetic disorder characterized by congenital hypertrichosis, acromegaloid facial appearance (AFA), cardiomegaly, and skeletal anomalies. Case report: We report an 8-year-old female patient with congenital generalized hypertrichosis and coarse facial appearance but without cardiovascular or skeletal compromise. Whole exome sequencing revealed a novel de novo heterozygous mutation in ABCC9 ...
2018: Application of Clinical Genetics
David Cantu Morales, Justin de Beer, Danielle Petruccelli, Conrad Kabali, Mitch Winemaker
BACKGROUND: A cross-sectional study of total knee arthroplasty (TKA) patients was conducted to determine the association of lower-extremity arterial calcification (LEAC) with acute perioperative cardiovascular events (CVEs). METHODS: Regression modeling was used to examine the association of radiographic presence of LEAC and acute myocardial infarction (MI), perioperative CVE, 30-day CVE readmit, and 30-day and 1-year mortality. RESULTS: Of 900 TKA patients, LEAC was identified in 21...
April 2018: Journal of Arthroplasty
Carlos Cantú-Brito, Gisele Sampaio Silva, Sebastián F Ameriso
BACKGROUND: Stroke is a major health concern throughout Latin America. As elsewhere, no precise cause can be determined for a substantial portion of strokes. In 6 studies since 2010 in the region, 16% to 43% of ischemic strokes were identified as cryptogenic. The term embolic stroke of undetermined source (ESUS) has been proposed as more clinically useful and positively defined than the vague term cryptogenic. The epidemiology of ESUS in Latin America is largely unknown. REVIEW SUMMARY: This article aims to provide a description of the epidemiology of ESUS in Latin America and practical information regarding available diagnostic procedures and current guidelines...
September 2017: Neurologist
Matthew C Henn, M Burhan Janjua, Haixia Zhang, Evelyn M Kanter, Carol M Makepeace, Richard B Schuessler, Colin G Nichols, Jennifer S Lawton
BACKGROUND: The adenosine triphosphate-sensitive potassium (KATP) channel opener diazoxide (DZX) prevents myocyte volume derangement and reduced contractility secondary to stress. KATP channels are composed of pore-forming (Kir6.1 or Kir6.2) and regulatory (sulfonylurea receptor, SUR1 or SUR2) subunits. Gain of function (GOF) of Kir6.1 subunits has been implicated in cardiac pathology in Cantu syndrome in humans (cardiomegaly, lymphedema, and pericardial effusions). We hypothesized that GOF of Kir6...
December 2016: Journal of Surgical Research
Mark D Levin, Gautam K Singh, Hai Xia Zhang, Keita Uchida, Beth A Kozel, Phyllis K Stein, Atilla Kovacs, Ruth E Westenbroek, William A Catterall, Dorothy Katherine Grange, Colin G Nichols
Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in genes encoding pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) KATP channel subunits. We show that patients with CS, as well as mice with constitutive (cGOF) or tamoxifen-induced (icGOF) cardiac-specific Kir6.1 GOF subunit expression, have enlarged hearts, with increased ejection fraction and increased contractility. Whole-cell voltage-clamp recordings from cGOF or icGOF ventricular myocytes (VM) show increased basal L-type Ca(2+) current (LTCC), comparable to that seen in WT VM treated with isoproterenol...
June 14, 2016: Proceedings of the National Academy of Sciences of the United States of America
E K Guerra-Sáenz, A G Narváez-Navarro, A C Hernández-López, C E Rojas-Delgado, G Ruíz-Cantú, P Cordero-Pérez, M Hernández-Guedea, H Zapata-Chavira, M M Escobedo-Villarreal, L Muñoz-Espinosa, E Pérez Rodríguez
INTRODUCTION: This study aims to identify the causes for the incomplete donation process at a tertiary care hospital. MATERIALS AND METHODS: A descriptive, retrospective study was performed; all potential donors reported to the Transplant Service within the period of 2005 to 2014 were included. Descriptive statistics were used across frequencies and proportions for categorical variables, central tendency, and dispersion for continuous variables. RESULTS: The total number of deaths reported at the University Hospital (HU) was 8472, of which 815 (n = 815) were reported to COETRA ("Consejo Estatal de Trasplantes")...
March 2016: Transplantation Proceedings
Jeffrey R Koenitzer, Gustavo Bonacci, Steven R Woodcock, Chen-Shan Chen, Nadiezhda Cantu-Medellin, Eric E Kelley, Francisco J Schopfer
Nitro-fatty acids (NO2-FA) are metabolic and inflammatory-derived electrophiles that mediate pleiotropic signaling actions. It was hypothesized that NO2-FA would impact mitochondrial redox reactions to induce tissue-protective metabolic shifts in cells. Nitro-oleic acid (OA-NO2) reversibly inhibited complex II-linked respiration in isolated rat heart mitochondria in a pH-dependent manner and suppressed superoxide formation. Nitroalkylation of Fp subunit was determined by BME capture and the site of modification by OA-NO2 defined by mass spectrometric analysis...
August 2016: Redox Biology
Paige E Cooper, Monica Sala-Rabanal, Sun Joo Lee, Colin G Nichols
Cantú syndrome (CS) is a rare disease characterized by congenital hypertrichosis, distinct facial features, osteochondrodysplasia, and cardiac defects. Recent genetic analysis has revealed that the majority of CS patients carry a missense mutation in ABCC9, which codes for the sulfonylurea receptor SUR2. SUR2 subunits couple with Kir6.x, inwardly rectifying potassium pore-forming subunits, to form adenosine triphosphate (ATP)-sensitive potassium (K(ATP)) channels, which link cell metabolism to membrane excitability in a variety of tissues including vascular smooth muscle, skeletal muscle, and the heart...
December 2015: Journal of General Physiology
Mark D Levin, Haixia Zhang, Keita Uchida, Dorothy K Grange, Gautam K Singh, Colin G Nichols
BACKGROUND: Gain-of-function (GOF) mutations in the KATP channel subunits Kir6.1 and SUR2 cause Cantu syndrome (CS), a disease characterized by multiple cardiovascular abnormalities. OBJECTIVE: The purpose of this study was to better determine the electrophysiologic consequences of such GOF mutations in the heart. METHODS: We generated transgenic mice (Kir6.1-GOF) expressing ATP-insensitive Kir6.1[G343D] subunits under α-myosin heavy chain (α-MHC) promoter control, to target gene expression specifically in cardiomyocytes, and performed patch-clamp experiments on isolated ventricular myocytes and invasive electrophysiology on anesthetized mice...
November 2015: Heart Rhythm: the Official Journal of the Heart Rhythm Society
B Cicero Willis, Ayleen Salazar-Cantú, Christian Silva-Platas, Evaristo Fernández-Sada, César A Villegas, Eduardo Rios-Argaiz, Pilar González-Serrano, Luis A Sánchez, Carlos E Guerrero-Beltrán, Noemí García, Guillermo Torre-Amione, Gerardo J García-Rivas, Julio Altamirano
Stress-induced cardiomyopathy, triggered by acute catecholamine discharge, is a syndrome characterized by transient, apical ballooning linked to acute heart failure and ventricular arrhythmias. Rats receiving an acute isoproterenol (ISO) overdose (OV) suffer cardiac apex ischemia-reperfusion damage and arrhythmia, and then undergo cardiac remodeling and dysfunction. Nevertheless, the subcellular mechanisms underlying cardiac dysfunction after acute damage subsides are not thoroughly understood. To address this question, Wistar rats received a single ISO injection (67 mg/kg)...
March 1, 2015: American Journal of Physiology. Heart and Circulatory Physiology
Luisa Diomede, Paola Rognoni, Francesca Lavatelli, Margherita Romeo, Elena del Favero, Laura Cantù, Elena Ghibaudi, Andrea di Fonzo, Alessandro Corbelli, Fabio Fiordaliso, Giovanni Palladini, Veronica Valentini, Vittorio Perfetti, Mario Salmona, Giampaolo Merlini
Poor prognosis and limited therapeutic options characterize immunoglobulin light-chain (AL) amyloidosis with major heart involvement. Reliable experimental models are needed to study light-chain (LC)/heart interactions and to explore strategies for prevention of cardiac damage. We have exploited the nematode Caenorhabditis elegans as a novel tool, because its pharynx is evolutionarily related to the vertebrate heart. Our data demonstrate that the pharyngeal pumping of C elegans is significantly and selectively reduced by LCs from AL patients suffering from cardiomyopathy, but not by amyloid LCs with different organ tropism or nonamyloidogenic LCs from multiple myeloma...
June 5, 2014: Blood
Yoko Hiraki, Satoko Miyatake, Michiko Hayashidani, Yutaka Nishimura, Hiroo Matsuura, Masahiro Kamada, Takuji Kawagoe, Keiji Yunoki, Nobuhiko Okamoto, Hiroko Yofune, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Satisu, Akira Murakami, Noriko Miyake, Gen Nishimura, Naomichi Matsumoto
Cantu syndrome is an autosomal dominant overgrowth syndrome associated with facial dysmorphism, congenital hypertrichosis, and cardiomegaly. Some affected individuals show bone undermodeling of variable severity. Recent investigations revealed that the disorder is caused by a mutation in ABCC9, encoding a regulatory SUR2 subunit of an ATP-sensitive potassium channel mainly expressed in cardiac and skeletal muscle as well as vascular smooth muscle. We report here on a Japanese family with this syndrome. An affected boy and his father had a novel missense mutation in ABCC9...
January 2014: American Journal of Medical Genetics. Part A
Catherine A Brownstein, Meghan C Towne, Lovelace J Luquette, David J Harris, Nicholas S Marinakis, Peter Meinecke, Kerstin Kutsche, Philippe M Campeau, Timothy W Yu, David M Margulies, Pankaj B Agrawal, Alan H Beggs
KCNJ8 (NM_004982) encodes the pore forming subunit of one of the ATP-sensitive inwardly rectifying potassium (KATP) channels. KCNJ8 sequence variations are traditionally associated with J-wave syndromes, involving ventricular fibrillation and sudden cardiac death. Recently, the KATP gene ABCC9 (SUR2, NM_020297) has been associated with the multi-organ disorder Cantú syndrome or hypertrichotic osteochondrodysplasia (MIM 239850) (hypertrichosis, macrosomia, osteochondrodysplasia, and cardiomegaly). Here, we report on a patient with a de novo nonsynonymous KCNJ8 SNV (p...
December 2013: European Journal of Medical Genetics
Colin G Nichols, Gautam K Singh, Dorothy K Grange
ATP-sensitive potassium (KATP) channels were first discovered in the heart 30 years ago. Reconstitution of KATP channel activity by coexpression of members of the pore-forming inward rectifier gene family (Kir6.1, KCNJ8, and Kir6.2 KCNJ11) with sulfonylurea receptors (SUR1, ABCC8, and SUR2, ABCC9) of the ABCC protein subfamily has led to the elucidation of many details of channel gating and pore properties. In addition, the essential roles of Kir6.x and SURx subunits in generating cardiac and vascular KATP(2) and the detrimental consequences of genetic deletions or mutations in mice have been recognized...
March 29, 2013: Circulation Research
Magdalena Harakalova, Jeske J T van Harssel, Paulien A Terhal, Stef van Lieshout, Karen Duran, Ivo Renkens, David J Amor, Louise C Wilson, Edwin P Kirk, Claire L S Turner, Debbie Shears, Sixto Garcia-Minaur, Melissa M Lees, Alison Ross, Hanka Venselaar, Gert Vriend, Hiroki Takanari, Martin B Rook, Marcel A G van der Heyden, Folkert W Asselbergs, Hans M Breur, Marielle E Swinkels, Ingrid J Scurr, Sarah F Smithson, Nine V Knoers, Jasper J van der Smagt, Isaac J Nijman, Wigard P Kloosterman, Mieke M van Haelst, Gijs van Haaften, Edwin Cuppen
Cantú syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the 16 individuals with Cantú syndrome examined. The ABCC9 protein is part of an ATP-dependent potassium (K(ATP)) channel that couples the metabolic state of a cell with its electrical activity. All mutations altered amino acids in or close to the transmembrane domains of ABCC9...
May 18, 2012: Nature Genetics
Bregje W M van Bon, Christian Gilissen, Dorothy K Grange, Raoul C M Hennekam, Hülya Kayserili, Hartmut Engels, Heiko Reutter, John R Ostergaard, Eva Morava, Konstantinos Tsiakas, Bertrand Isidor, Martine Le Merrer, Metin Eser, Nienke Wieskamp, Petra de Vries, Marloes Steehouwer, Joris A Veltman, Stephen P Robertson, Han G Brunner, Bert B A de Vries, Alexander Hoischen
Cantú syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Using an exome-sequencing approach applied to one proband-parent trio and three unrelated single cases, we identified heterozygous mutations in ABCC9 in all probands. With the inclusion of the remaining cohort of ten individuals with Cantú syndrome, a total of eleven mutations in ABCC9 were found. The de novo occurrence in all six simplex cases in our cohort substantiates the presence of a dominant disease mechanism...
June 8, 2012: American Journal of Human Genetics
Mazen Kurban, Chong Ae Kim, Maija Kiuru, Katherine Fantauzzo, Rita Cabral, Ossama Abbas, Brynn Levy, Angela M Christiano
BACKGROUND: Cantu syndrome is a rare condition which is characterized clinically by hypertrichosis, cardiomegaly and bone abnormalities. Inherited hypertrichoses are very rare human disorders whose incidence has been estimated as low as 1 in 1 billion. The genetic basis of hypertrichosis is largely unknown, and currently no single gene has been directly implicated in its pathogenesis, although position effects have been reported. METHODS: We analyzed the DNA of a patient with Cantu syndrome on the Affymetrix Cytogenetics Whole-Genome 2...
2011: Dermatology: International Journal for Clinical and Investigative Dermatology
Nikolaos Dagres, Francesco Cantù, Peter Geelen, Thorsten Lewalter, Alessandro Proclemer, Carina Blomström-Lundqvist
We performed a survey on current practice of ventricular tachycardia (VT) ablation in patients with implantable cardioverter-defibrillators among the European Heart Rhythm Association Research Network. The main indication for the procedure is the occurrence of multiple shocks or electrical storm, while prophylactic ablation is only rarely performed. The epicardial approach is seldom used and mostly only after failure of endocardial ablation. The main ablation strategy is targeting the clinical VT only by substrate mapping and ablation, and by targeting fractionated potentials with utilization of modern electroanatomical mapping systems...
January 2012: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
Aurelia Grosu, Michele Senni, Attilio Iacovoni, Mauro Gori, Francesco Cantù, Silvia Bisetti, Tiziana De Santo, Alessandro De Luca, Antonello Gavazzi
OBJECTIVE: Cardiac resynchronization therapy (CRT), combined with optimal medical therapy (OMT), is an established treatment for patients with advanced chronic heart failure (ACHF). In ACHF, carvedilol at the dose used in clinical trials, reduces morbidity and mortality. However, patients often do not tolerate the drug at the targeted dosage. The aim of the CARIBE-HF prospective observational study was to investigate the role of CRT in the implementation of carvedilol therapy in patients with ACHF...
October 2011: Acta Cardiologica
Ingrid Scurr, Louise Wilson, Melissa Lees, Stephen Robertson, Edwin Kirk, Anne Turner, John Morton, Alexa Kidd, Vandana Shashi, Christy Stanley, Margaret Berry, Alan D Irvine, David Goudie, Claire Turner, Carole Brewer, Sarah Smithson
Cantú syndrome, a rare disorder of congenital hypertrichosis, characteristic facial anomalies, cardiomegaly, and osteochondrodysplasia was first described in 1982 by Cantú. Twenty-three cases of Cantú syndrome have been reported to date. The pathogenesis of this rare autosomal dominant condition is unknown. We describe 10 patients with Cantú syndrome (9 new cases and the long-term follow-up of a 10th case reported by Robertson in 1999) comparing the phenotype with that of the previously reported cases. We describe how the distinctive facial appearance evolves with time and report several new findings including recurrent infections with low immunoglobulin levels and gastric bleeding in some of our patients...
March 2011: American Journal of Medical Genetics. Part A
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