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hypertrophic cardiopathy

Josef Finsterer, Sinda Zarrouk-Mahjoub
OBJECTIVES: Mitochondrial disorders (MIDs) frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or evolve into MIMODS during the course. This study aimed to find which organs and/or tissues are most frequently affected by MIMODS, which are the most frequent abnormalities within an affected organ, whether there are typical MIMODS patterns, and to generate an MIMODS score to assess the diagnostic probability for an MID. METHODS: This is a retrospective evaluation of clinical, biochemical, and genetic investigations of adult patients with definite MIDs...
2017: Neuropsychiatric Disease and Treatment
Daniela Alves, Maria Eufémia Calmeiro, Carmo Macário, Rosa Silva
Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient's mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge...
August 31, 2017: Acta Médica Portuguesa
Elena Maria Pennisi, Marcello Arca, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Adele D'amico, Matteo Garibaldi, Francesca Gragnani, Lorenzo Maggi, Roberto Massa, Sara Missaglia, Lucia Morandi, Olimpia Musumeci, Elena Pegoraro, Emanuele Rastelli, Filippo Maria Santorelli, Elisabetta Tasca, Daniela Tavian, Antonio Toscano, Corrado Angelini
BACKGROUND: A small number of patients affected by Neutral Lipid Storage Diseases (NLSDs: NLSD type M with Myopathy and NLSD type I with Ichthyosis) have been described in various ethnic groups worldwide. However, relatively little is known about the progression and phenotypic variability of the disease in large specific populations. The aim of our study was to assess the natural history, disability and genotype-phenotype correlations in Italian patients with NLSDs. Twenty-one patients who satisfied the criteria for NLSDs were enrolled in a retrospective cross-sectional study to evaluate the genetic aspects, clinical signs at onset, disability progression and comorbidities associated with this group of diseases...
May 12, 2017: Orphanet Journal of Rare Diseases
Jinglun Liu, Feng Shen, Jean-Louis Teboul, Nadia Anguel, Alexandra Beurton, Nadia Bezaz, Christian Richard, Xavier Monnet
BACKGROUND: Weaning-induced pulmonary oedema (WiPO) is a well-recognised cause of failure of weaning from mechanical ventilation, but its incidence and risk factors have not been reliably described. We wanted to determine the incidence and risk factors in a population of critically ill patients. In addition, we wanted to describe the effects of diuretics when they are administered in this context. METHODS: We monitored 283 consecutive spontaneous breathing trials (SBT; T-piece trial) performed in 81 patients...
November 12, 2016: Critical Care: the Official Journal of the Critical Care Forum
Valentina Grampa, Marion Delous, Mohamad Zaidan, Gweltas Odye, Sophie Thomas, Nadia Elkhartoufi, Emilie Filhol, Olivier Niel, Flora Silbermann, Corinne Lebreton, Sophie Collardeau-Frachon, Isabelle Rouvet, Jean-Luc Alessandri, Louise Devisme, Anne Dieux-Coeslier, Marie-Pierre Cordier, Yline Capri, Suonavy Khung-Savatovsky, Sabine Sigaudy, Rémi Salomon, Corinne Antignac, Marie-Claire Gubler, Alexandre Benmerah, Fabiola Terzi, Tania Attié-Bitach, Cécile Jeanpierre, Sophie Saunier
Ciliopathies are a group of genetic multi-systemic disorders related to dysfunction of the primary cilium, a sensory organelle present at the cell surface that regulates key signaling pathways during development and tissue homeostasis. In order to identify novel genes whose mutations would cause severe developmental ciliopathies, >500 patients/fetuses were analyzed by a targeted high throughput sequencing approach allowing exome sequencing of >1200 ciliary genes. NEK8/NPHP9 mutations were identified in five cases with severe overlapping phenotypes including renal cystic dysplasia/hypodysplasia, situs inversus, cardiopathy with hypertrophic septum and bile duct paucity...
March 2016: PLoS Genetics
E A Yurieva, V S Sukhorukov, E S Vozdvijenskaia, N M Novikova, M N Kharabadze, M I Yablonskaia
The children with inherited cardiopathy including hypersensitive (n = 85) and dilatation (n=10) cardiopathy as well as cardiopathy under Ehlers-Danlos Syndrome (n = 70) combined with different inherited heart disease were examined to establish signs of hematic and tissue hypoxia. The most typical signs turned out periodic decrease of blood pCO2 with increasing of content of lactate and pyruvate in blood and saliva, multiple caries of teeth and high rate of systemic hypoplasia of enamel of both temporary and permanent teeth...
February 2015: Klinicheskaia Laboratornaia Diagnostika
H O Spas'ka
Our investigation showed for the patients with reactive arthritis typical is hyperkinetic type of haemodynamic, and also structural changes of the heart which manifestate by interventricular partition's thickness as a result of inflammatory edema and it's valve consolidation frequently whithout expressed blood regurgitation, and diastolic dysfunction's development of the left and right heart ventricles in hypertrophic type with disorders of their active relaxation and growth their chamber's rigidity. These changes, probably, evidence about development of the inflammatory cardiopathy in these patients and can be preconditions of the heart failure...
May 2014: Likars'ka Sprava
T P Crotty
Experiments on canine lateral saphenous vein segments have shown that noradrenaline causes potent, flow dependent effects, at a threshold concentration comparable to that of plasma noradrenaline, when it stimulates a segment by diffusion from its microcirculation (vasa vasorum). The effects it causes contrast with those neuronal noradrenaline causes in vivo and that, in the light of the principle that all information is transmitted in patterns that need contrast to be detected - star patterns need darkness, sound patterns, quietness - has generated the hypothesis that plasma noradrenaline provides the obligatory contrast tissues need to detect and respond to the regulatory information encrypted in the diffusion pattern of neuronal noradrenaline...
November 2015: Medical Hypotheses
U Vinsonneau, L Vermeulen, V Griffet, A Delluc, N Paleiron, F Le Ven, G Rohel, Y Jobic, M Piquemal, J Mansourati, P Paule
UNLABELLED: Clinically discovering a systolic murmur is frequent among the young military population. When this murmur does not sound benign, a transthoracic echocardiography (TTE) is made to detect any cardiopathy, which could cause sudden cardiac death. The aim of this study was to evaluate the interest of systematic TTE in the assessment of any cardiac systolic murmur (CSM) among militaries. METHODS: We ran a retrospective monocentric study in the "Clermont-Tonnerre" military hospital in Brest...
April 2015: Annales de Cardiologie et D'angéiologie
Maria G Onesti, Pasquale Fino, Paolo Fioramonti, Vittoria Amorosi, Nicolò Scuderi
Dermal substitutes offer alternative approaches for wounds of all thicknesses where sufficient donation sites are not available for self-grafts. Several dermal substitutes are described in literature. This study included 20 patients treated with a dermal induction template after the removal of malignant skin cancers situated in various parts of the body. The participants were especially aged patients with multiple skin cancers, and complex clinical conditions, often affected by pathologies such as cardiopathy, diabetes mellitus, and hypercholesterolaemia, and receiving pharmacological multi-therapies, particularly antiplatelets and anticoagulants...
April 2016: International Wound Journal
Umberto Vespasiani-Gentilucci, Antonio De Vincentis, Josepmaria Argemi, Giovanni Galati, Eduardo Ansò, Giuseppe Patti, Antonio Picardi
INTRODUCTION: Cardiotrophin-1 (CT-1) is a member of the interleukin-6 superfamily with known hypertrophic and protective actions upon cardiac myocytes. Although its effects on myocardial tissue and its role in hypertensive heart disease are well documented, there are no studies on CT-1 blood levels in patients with coronary artery disease. In this study we aimed to verify the relationships of serum CT-1 with vascular disease and metabolic parameters in a population of patients undergoing coronary angiography due to clinical indications...
August 30, 2013: Archives of Medical Science: AMS
Saadia Ilyas, Ahmad Fawad, Hajira Ilyas, Abdul Hameed, Zahid Aslam Awan, Amina Zehra, Muhammad Ilyas, AsadUllah Fazli
OBJECTIVE: To study echocardiogram features of different types of cardiomyopathy presenting over a 12 year period at a single centre in Peshawar. METHODS: The series comprised a retrospective review of 13,788 consecutive echocardiograms carried out at the Muhammadi Hospital International Medical Research Centre, Hayatabad, Peshawar, from January 1999 to December 2010. Patients were split into two: Group I with paeditaric and adolescent cases (0-18 years) and Group II with adults (> 18 years)...
April 2013: JPMA. the Journal of the Pakistan Medical Association
Antonio Del Giudice, Antonio Cicchella, Giuseppe Di Giorgio, Matteo Piemontese, Michele Prencipe, Andrea Fontana, Massimiliano Copetti, Fabio Pellegrini, Filippo Aucella
Hypertension (HTN) is very common in chronic hemodialysis patients, with a prevalence of 72%, a very poor control and an annual mortality of 23%. We report the results of a clinical audit on prevalence and control of HTN in our hemodialysis patients. The following parameters in a cohort of 89 patients were assessed in one-month observational study, conducted in October 2010: blood pressure (BP) before the beginning (preHD BP) and after the end of the treatment (postHD BP), age, sex, comorbidity, serum hemoglobin (Hb) levels, plasma and dialysate sodium levels, interdialytic weight gain (IWG), serum parathyroid hormone (PTH) levels, prescription of erythropoiesis stimulating agents (ESA) and of antihypertensive drugs...
March 2012: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
Begoña Ezquieta, José L Santomé, Atilano Carcavilla, Encarna Guillén-Navarro, Antonio Pérez-Aytés, Jaime Sánchez del Pozo, Sixto García-Miñaur, Emilia Castillo, Milagros Alonso, Teresa Vendrell, Alfredo Santana, Enrique Maroto, Liliana Galbis
INTRODUCTION AND OBJECTIVES: Molecular characterization of congenital heart diseases now includes the not infrequent dysmorphic Noonan syndrome. A study of 6 genes of the RAS-MAPK pathway in Spanish patients is presented: the impact of heart disease, clinical expressivity, and diagnostic yield are investigated. METHODS: The study included 643 patients (and 182 family members) diagnosed by dysmorphologists, cardiologists, and pediatric endocrinologists from 74 tertiary hospitals...
May 2012: Revista Española de Cardiología
N I Bubnova, D A Zhakota, L N Kask, T S Parsegova, E A Prolygina
Cardiomyopathies in children are rather rare, but extremely severe disorders that are little known in practical healthcare. Many of them are a cause of sudden death and they are familial. By using their findings and the data available in the literature, the authors describe the etiology, pathogenesis, morphology, and clinical presentation of dilated, hypertrophic, arhythmogenic right ventricular, histiocytoid cardiomyopathies, as well as the non-compact myocardium, and a type of cardiac connective tissue dysplasia...
November 2010: Arkhiv Patologii
F El Louali, C Villacampa, P Aldebert, A Dragulescu, A Fraisse
Pulmonary atresia and critical pulmonary stenosis with intact ventricular septum includes a wide spectrum of cardiopathies with great morphological heterogeneity. The pulmonary valve may be completely atretic or may contain a puncture hole if stenosis is present. The obstruction may be membranous and/or muscular. All components of the right ventricle can be affected, even the coronary circulation with ventriculocoronary connections and stenosis or atresia of the pulmonary arteries. Prenatal diagnosis is made when the right ventricle is hypoplastic and hypertrophic...
March 2011: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Raúl E Ríos-Méndez, Lisandro R Díaz-Beltrán, Adriana G Palazzolo, Susana Judith Gotthelf, Lilian Laura Jubany
The double-chambered right ventricle is a rare congenital heart disease caused by hypertrophic anomalous muscle bands that divide the ventricular cavity, resulting in the formation of a high-pressure proximal chamber and other low-pressure distal one. Because of its evolving nature, its diagnosis is usually made during adolescence or adulthood. While pediatricians see patients whose age range is well established, currently pediatric cardiologists attend patients with cardiopathies from the fetal stage to adulthood, because they are more familiar with these malformations...
October 2010: Archivos Argentinos de Pediatría
N Romero-Rodríguez, E Lage-Gallé, A Guisado-Rasco, J Nevado-Portero, R Solanilla Rodríguez, M Gonzalez Vargas Machuca, M Sobrino Marquez, A Martínez-Martínez
INTRODUCTION: Data from cardiac transplantation registries have demonstrated a gradual improvement in patient survival over the last decades. Nevertheless, 5-years mortality rates may reflect the multitude of physiologic processes. Registries offer valuable information regarding predictors of mortality that may help us to improve therapeutic strategies. OBJECTIVES: To determine the influence on long term recipient survival of the type of prior cardiopathy that led to cardiac transplantation...
October 2010: Transplantation Proceedings
Guillermo A Llamas-Esperón, Armando Loera Pinales, Santiago Sandoval Navarrete, Alberto Zamora Muciño, Miguel A Ramírez Robledo, Samuel Varela Ortiz, Ulices Casas Juárez, María de la Luz Fuantos Delgado, Javier Albarrán Domínguez, Rocío Muñoz Sandoval, Eufracino Sandoval Rodríguez, M Eugenia Ruiz Esparza
OBJECTIVE: To report the acute and Long term results of percutaneous transluminal septal myocardial ablation (PTSMA), for the treatment of hypertrophic obstructive cardiomyopathy (HOCM). PTSMA has been considered as an alternative to surgical treatment in patients with HOCM and drug-refractory symptoms or unresponsive to the implantation of a pacemaker. Acute response is generally satisfactory, but long term results have not been sufficiently described. METHODS: We did PTSMA in eight patients, with functional class III-IV of NYHA, and with a transaortic gradient at rest > or = 40 mmHg...
January 2009: Archivos de Cardiología de México
Sana Fennira, Mohammed Anis Rejeb, Yassin Ellouze, Habib Khaldi, Walid Ouertani, Somaya Tellili, Kais Battikh, Selma Longo, Sondes Kraiem, Mohammed Lotfi Slimene
BACKGROUND: diagnosis end treatment of heart diseases, physiopathologic changes in pregnancy. AIM: Pregnancy in woman with heart disease increases the risk of maternal and fetal complications. The aim of the study is to precise the physiopathologic, diagnostic, and therapeutic characteristics of heart diseases in pregnant woman. METHODS: Extensive electronic search of the relevant literature was carried out using Medline. Key words used were:pregnancy, heart disease, maternal outcome, fetal outcome, cardiac complications...
June 2008: La Tunisie Médicale
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