Search Results
Results 1 - 50 of 2881
1 2 3 4 5 6 7 8 9 10 >
Su Jennifer A JA 1Division of Cardiology,Children's Hospital Los Angeles,California,United States of - - 2014
In the spectrum of mitral valve anomalies, unguarded mitral orifice is an exceedingly rare malformation, with only four cases described in the current literature. All previously reported cases have been associated with discordant atrioventricular connections. We describe the first known case of unguarded mitral valve orifice, in the setting of ...
Inoue Shin-Ichi SI Department of Medical Genetics, Tohoku University School of Medicine, Sendai, - - 2014
Cardio-facio-cutaneous (CFC) syndrome is one of the 'RASopathies', a group of phenotypically overlapping syndromes caused by germline mutations that encode components of the RAS-MAPK pathway. Germline mutations in BRAF cause CFC syndrome, which is characterized by heart defects, distinctive facial features and ectodermal abnormalities. To define the pathogenesis and to ...
Takasugi Nobuhiro N Gifu University Hospital, Gifu, - - 2014
We report a case with type 3 congenital long QT syndrome, who exhibited a sudden paradoxical QT-interval prolongation during a progressive increase in heart rate, which exacerbated T-wave alternans.
Qiu Qi - - 2014
Chinese medicine syndromes in many disease models are not clearly characterized or validated, and the concepts of Chinese medicine syndromes are confounding and controversial. Metabonomics has been applied to the evaluation and classification of the Chinese medicine syndromes in clinical and nonclinical studies. In this study, we aim to investigate ...
Zweigerdt Robert R Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department for Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, 30625 Hannover, Germany; REBIRTH Cluster of - - 2014
Disease-specific induced pluripotent stem cells (iPSCs) are invaluable tools for studying genetic disorders in a dish. A recent paper by Wang et al. (2014) powerfully combines analysis of human iPSCs with genome editing and tissue engineering, in conjunction with biochemical and physiological assays, to provide insights into Barth-syndrome-associated cardiomyopathy.
Bottio Tomaso T Department of Cardiology and Cardiovascular Surgery, University of Padua Medical School, Padua - - - 2014
Carvajal syndrome is a variant of Naxos disease characterized by a predominant left ventricular involvement, wooly or curly hair, and palmoplantar keratoderma or similar skin disorders. We describe the clinical and therapeutic course of a 14-year old boy affected by this syndrome, in whom a progressive biventricular failure developed at ...
Shah Sanjiv J SJ Heart Failure with Preserved Ejection Fraction Program, Division of Cardiology, Department of Medicine, Feinberg Cardiovascular Research Institute, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. Electronic address: - - 2014
Heart failure with preserved ejection fraction (HFpEF) is a heterogeneous syndrome, with several underlying etiologic and pathophysiologic factors. The heterogeneity of the HFpEF syndrome may explain why (1) diagnosing and treating HFpEF is so challenging and (2) clinical trials in HFpEF have failed thus far. Here we describe 4 ways ...
Cohen L L Duke University School of Medicine, P.O. Box 100800, Durham, NC 27705, USA. - - 2014
The development of simultaneous decompensation in cardiac and renal function is a common phenomenon in patients with congestive heart failure. Termed the cardiorenal syndrome (CRS), this joint deterioration in cardiac output and renal filtration is the result of a complex interplay of hemodynamic and neurohormonal factors. Recently, endothelial dysfunction, inflammation ...
Wang Qun Q 1 The Nethersole School of Nursing, The Chinese University of Hong Kong , Hong Kong SAR, China - - 2014
Abstract Background: Different institutions have proposed various definitions for metabolic syndrome, which is a combination of risk factors for cardiovascular diseases (CVD). This study aimed to compare the feasibilities and abilities of different metabolic syndrome definitions in predicting acute coronary syndrome (ACS) in Chinese adults. Methods: A case-control study was ...
Wright Peter T PT National Heart and Lung Institute, Imperial College - - 2014
Takotsubo syndrome (TTS), also known as takotsubo cardiomyopathy, is an acute heart failure syndrome that typically occurs after a period of great emotional stress. The archetypal patient is a postmenopausal woman who presents with chest pain, ST-segment elevation and acute hypokinesia of the apical and middle segment of the left ...
Mahimaiha Jayaranganath J Department of cardiology, Sri Jayadeva Institute of Cardiovascular Sciences & Research, Bangalore, Karnataka, - - 2014
Coarctoplasty with stenting is often an effective strategy in cases of recoarctation following surgical repair. The potential benefit of coarctoplasty in a patient with Eisenmenger's syndrome is unknown. We describe the case of a 21-year-old male who presented with claudication of lower limbs. He was known to have congenital heart ...
Pothen L - - 2014
We report on a 75-year-old woman who presented with recurrent episodes of hypotension, anasarca, renal failure, hypoalbuminaemia without proteinuria, suggestive of systemic capillary leak syndrome (SCLS). Further investigations led to a diagnosis of diffuse large B-cell lymphoma. Secondary SCLS associated with non-Hodgkin lymphoma is reviewed.
Tadic Marijana M aUniversity Clinical Hospital Center 'Dr Dragisa Misovic-Dedinje' bClinic of Cardiac Surgery cClinic of Cardiology, Clinical Center of Serbia dFaculty of Medicine, University of Belgrade, Belgrade, - - 2014
The aim of this study was to examine the influence of the metabolic syndrome on the left ventricular geometry as well as on the early and mid-time outcome in patients with aortic stenosis who underwent aortic valve replacement. The study included 182 patients who underwent aortic valve replacement due to ...
DeZern Amy E AE The Sidney Kimmel Comprehensive Cancer Center and Division of Hematology, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; Leukemia Program, Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA - - 2014
Over the past decade, our understanding of bone marrow failure has advanced considerably. Marrow failure encompasses multiple overlapping diseases, and there is increasing availability of diagnostic tools to distinguish among the subtypes. Identification of genetic alterations that underlie marrow failure has also greatly expanded, especially for myelodysplastic syndromes. Molecular markers ...
Wilson David B DB Department of Pediatrics, Washington University School of Medicine , St. Louis, MO , - - 2014
The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blood cell lineages. Examples include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, thrombocytopenia absent radii syndrome, severe congenital neutropenia, and Shwachman-Diamond syndrome. The management of these disorders was once the ...
Laribi Said S Emergency Department, APHP, Groupe Hospitalier Saint Louis-Lariboisière, 75010, Paris, France, - - 2014
Heart failure (HF) is a major healthcare concern. Acute HF carries a high mortality and a high rehospitalisation rate. HF has a variety of detrimental effects on other organs. In recent years, the interactions between heart failure and the kidney have been the subject of significant investigations; this interaction, defined ...
Balanceanu Lavinia Alice LA Internal Medicine Department, "Sf. Ioan" Clinical Emergency Hospital,Bucharest, Romania. - - 2014
We report the case of a 84-year-old admitted with symptoms of congestive heart failure. Ultrasonography revealed a hyperechoic nodule in the left lobe of the liver, with a peripheral hypoechoic rim, multiple irregular hypoechoic nodules in both hepatic lobes, portal vein, inferior vena cava, and right atrium thrombosis. On ultrasonographic ...
Takahashi Kazuhiro K Department of Pediatric Cardiology, Okinawa Children's Medical Center, Okinawa, - - 2014
Chromosomal abnormalities as well as non-cardiac anomalies have been identified as independent risk factors for surgical morbidity and mortality in Fontan palliation. The combination of malformations consisting of pulmonary hypoplasia, agonadism (sex reversal), omphalocele, and diaphragmatic defect is compatible with pulmonary artery and lung hypoplasia, agonadism, omphalocele, and diaphragmatic defect ...
Aminde Leopold N LN 1 Department of Internal Medicine, Faculty of Health Sciences, University of Buea, Buea, Cameroon ; 2 Department of Internal Medicine, General Hospital Douala, Douala, Cameroon ; 3 St Elisabeth Catholic General Hospital, Cardiothoracic Centre, Shisong, - - 2014
Lutembacher syndrome (LS) is a rare cardiac clinical entity marked by the combination of an atrial septal defect (ASD) and mitral stenosis (MS). Its prognosis is influenced by several factors. We present the case of a young adult male who presented with a 10-month history of exertional dyspnea, orthopnoea, fatigue ...
Overman Jeroen Paardekooper JP Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, - - 2014
Noonan syndrome (NS) is an autosomal dominant disorder caused by activating mutations in the PTPN11 gene encoding for Shp2, which manifests in congenital heart disease, short stature and facial dysmorphia. The complexity of Shp2 signaling is exemplified by the observation that LEOPARD syndrome (LS) patients possess inactivating PTPN11 mutations yet ...
Komiyama Masaki M Department of Neuro-Intervention, Osaka City General Hospital, 2-13-22, Miyakojima-Hondori, Miyakojima, Osaka, 534-0021, Japan, - - 2014
Spinal arteriovenous metameric syndrome (SAMS) is a combination of more than two separate vascular malformations in the same embryonic metameres. This syndrome, also known as Cobb syndrome, is rare, especially in the neonate. A neonatal girl with a birthmark in the occipital and posterior nuchal regions presented with severe heart ...
Stuckey Melanie I MI School of Kinesiology, The University of Western Ontario, London, Canada; Aging, Rehabilitation and Geriatric Care Research Centre, Lawson Health Research Institute, London, - - 2014
A number of cross-sectional studies have examined associations between heart rate variability and metabolic syndrome, but differences in study populations, data collection and analysis methodologies make synthesis difficult. The purpose of this study was to systematically review published primary research examining associations between heart rate variability parameters and metabolic syndrome ...
Ren Sidney Y SY Center for Cardiovascular Research and Alternative Medicine, School of Pharmacy, University of Wyoming College of Health Sciences, Laramie, WY 82071 - - 2014
Metabolic syndrome (MetS) is a constellation of multiple metabolic risk factors including abdominal obesity, glucose intolerance, insulin resistance, dyslipidemia and hypertension. Over the past decades, the prevalence of metabolic syndrome has increased dramatically, imposing a devastating, pandemic health threat. More importantly, individuals with metabolic syndrome are at an increased risk ...
Burgazli K M KM Wuppertal Research and Medical Center, Department of Internal Medicine and Angiology, Wuppertal, Germany. - - 2014
We report on the case of a 13-year-old female presenting with dizziness and nausea related to high blood pressure. A complete medical evaluation revealed that the patient had middle-aortic syndrome (MAS), in which there was a severe stenosis of the abdominal aorta that affected her renal and visceral arteries. If ...
M van Haelst Mieke M Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The - - 2014
MED13L haploinsufficiency syndrome has been described in two patients and is characterized by moderate intellectual disability (ID), conotruncal heart defects, facial abnormalities and hypotonia. Missense mutations in MED13L are linked to transposition of the great arteries and non-syndromal intellectual disability. Here we describe two novel patients with de novo MED13L ...
Mathur Deepan D 1Pediatric Pathology, Department of Pathology, - - 2014
Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis has historically been based on clinical grounds. We describe a child that was ...
Dykes Iain M IM Cardiovascular Medicine, University of - - 2014
22q11 deletion syndrome arises from recombination between low copy repeats on chromosome 22. Typical deletions result in hemizygosity for TBX1 associated with congenital cardiovascular disease. Deletions distal to the typically deleted region result in a similar cardiac phenotype but lack extra-cardiac features of the syndrome suggesting that a second haploinsufficient ...
Nguyen Hoang H HH Department of Pediatrics, Washington University School of Medicine, St. Louis, - - 2014
Tetralogy of Fallot and a complete atrioventricular septal defect are thought to arise by distinct mechanisms, yet their co-occurrence is a recognized association. Analysis of the prevalence of co-occurrence in Down syndrome suggests a common developmental basis. Trisomy 21 may perturb cardiac progenitor cells before they enter the heart tube.
Sreenivasa Kumar M L ML Department of Cardiology, SVIMS, Tirupati, Andhra - - 2014
Metabolic syndrome is associated with the development of diabetes mellitus and cardiovascular disease. The impact of metabolic syndrome on the progression of atherosclerosis has been well documented. This study was designed to evaluate the impact of metabolic syndrome on global left ventricular function by using left ventricular myocardial performance index ...
Caro Milagros M 1 Department of Cardiology, Instituto Cardiovascular de Buenos Aires, Buenos Aires, - - 2014
Down syndrome is the most common chromosomal abnormality, with an incidence of one case in every 650 live births. It is strongly associated with heart disease, which constitutes the main cause of mortality during the first 2 years of life in this population. Most of the cardiac abnormalities in patients ...
Russell Mark R MR Department of Pediatrics, University of - - 2014
Recurrent 2q13 deletion syndrome is associated with incompletely penetrant severe cardiac defects and craniofacial anomalies. We used an atypical, overlapping 1.34 Mb 2q13 deletion in a patient with pathogenically similar congenital heart defects (CHD) to narrow the putative critical region for CHD to 474 kb containing 6 genes. To determine ...
Szczechowicz Marcin M Pediatric Cardiac Surgery, Universitätsklinikum Münster, Münster, - - 2014
Hypoplastic left heart syndrome with dextrocardia and situs solitus is a very rare condition. We describe a 3.5-year-old male child with this constellation who underwent multistage repair and a successful extracardiac Fontan operation in our hospital.
Valdez Carolina M CM Department of Ginecology and Obstetrics, Hospital Materno Infantil Presidente Vargas (HMIPV), Porto Alegre, RS, - - 2014
The association between encephalocele and radial defects is considered uncommon. These features have been occasionally described separately in certain recurrent conditions such as VACTERL association, oculo-auriculo-vertebral spectrum and Edwards syndrome (trisomy 18). DK-phocomelia is a rare syndrome characterized by both findings. However, Froster-Iskenius and Meinecke [1992, Clin Dysmorphol 1: 37-41] ...
Frietsch Jochen J JJ Klinik für Innere Medizin II, Hämatologie und internistische Onkologie, Universitätsklinikum Jena, Jena, - - 2014
Myelodysplastic syndrome (MDS) comprises a heterogeneous group of clonal disorders of haematopoietic stem cells, characterized by dysplastic haematopoiesis and dysregulated apoptosis resulting in various degrees of cytopenia. Whereas canonical cytologic, cytogenetic and histopathologic findings guiding the diagnosis MDS are widely accepted, the MDS-phenotype can be masked by coexisting / paraneoplastic immunologic disease. ...
Caetano Francisca F Serviço de Cardiologia, Centro Hospitalar e Universitário de Coimbra, Hospital Geral, Coimbra, Portugal. Electronic address: - - 2014
Worsening renal function has an unquestionably negative impact on prognosis in patients with acute heart failure (HF). In Portugal there is little information about the importance of this entity in HF patients admitted to hospital. The objective of this work was to assess the prevalence of cardiorenal syndrome and to ...
Patel Ravi B RB Department of Medicine, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, - - 2014
This article provides a brief overview of the clinical presentation, laboratory and radiologic features, and basic management principles in patients with congestive heart failure (CHF) and acute coronary syndromes (ACS). CHF is a clinical syndrome that typically results in symptoms of congestion and hypoperfusion. A thorough physical examination complemented by ...
Lewandrowski Kent B KB Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Gray 5 Chemistry, Boston, MA 02114, USA. Electronic address: - - 2014
The utility of blood biomarkers of cardiac myocyte damage such as troponin T and I in the evaluation of acute coronary syndromes and heart failure is well established. However, some of these markers may also be elevated in other conditions, such as myocarditis, cardiac transplant rejection, and several other conditions. ...
Desai Nayan N 1Department of Medicine, Cooper University Hospital, Camden, NJ; and 2Department of Medicine, Seth G S Medical College and KEM Hospital, Parel, - - 2014
Idiopathic hypereosinophilic syndrome was first defined by Chursid et al in 1975; however, following the advances in molecular biology, the World Health Organization has proposed a classification in 2008. Hypereosinophilic syndrome is a heterogeneous group of uncommon disorders characterized by marked peripheral eosinophilia and end-organ manifestation. The authors describe a ...
Brescia Alexander A AA Division of Cardiothoracic Surgery, St Louis University School of Medicine and Cardinal Glennon Medical Center, St Louis, - - 2014
Two different strategies have emerged in the initial palliation for hypoplastic left heart syndrome, the conventional Norwood operation and the so-called hybrid procedure. We have used each of these at our center. The purpose of the present study was to compare the outcomes of both procedures. From 2007 to 2012, ...
Podestà Manuel Alfredo MA Nephrology and Dialysis Unit, Humanitas Clinical and Research Center , Rozzano, Milan , Italy - - 2014
Abstract McKittrick-Wheelock syndrome is a rare disorder in which a colorectal tumor (usually a villous adenoma) determines secretory mucous diarrhea, which in turn leads to prerenal acute renal failure, hyponatremia, hypokalemia and metabolic acidosis. Even though the outcome is usually favorable with complete recovery after surgery, the diagnosis is often ...
Prendiville Terence W TW Department of Cardiology, Boston Children's Hospital, , Boston, Massachusetts, - - 2014
Noonan syndrome (NS), a relatively common autosomal dominant disorder with an incidence of 1 in 1000 to 2500 live births, is the most common syndromic cause of congenital heart disease after Trisomy 21. To comprehensively define the spectrum of cardiac morphology and specific clinical course of a large cohort of ...
Hugar Basappa S BS Department of Forensic Medicine, MS Ramaiah Medical College, Bangalore, 560054, - - 2014
Marfan syndrome is an autosomal dominant genetic disorder of the connective tissue. The most serious complications of this syndrome are defects of the heart valves and aorta. Aneurysms of thoracic aorta are known to develop in Marfan syndrome. Other causes for development of aneurysms of the thoracic aorta are trauma, ...
Sen-Chowdhry Srijita S Inherited Cardiovascular Disease Group, Institute of Cardiovascular Science, University College London , - - 2014
Abstract The classic cardiocutaneous syndromes of Naxos and Carvajal are rare. The myocardial disorder integral to their pathology - arrhythmogenic cardiomyopathy - is arguably not uncommon, with a prevalence of up to 1 in 1,000 despite almost certain under-recognition. Yet the study of cardiocutaneous syndromes has been integral to evolution ...
Havrankova Enikö - - 2014
The article presents a case study of a 37-year-old male who was admitted to the Acute Cardiology Unit of our hospital with suspicion of acute coronary syndrome. By invasive imaging examination, acute coronary syndrome was ruled out, but as a secondary finding a foreign body was found in the pericardium ...
Bockenhauer Detlef D Great Ormond Street Hospital for Children NHS Foundation Trust and Institute of Child Health, University College London, 30 Guildford Street, London, WC1N 1EH, UK, - - 2014
Investigations into edema formation in nephrotic syndrome have mostly focused on the primary role of sodium. While there is controversy about whether sodium retention is an inherent aspect of nephrotic syndrome (overfill hypothesis) or a secondary consequence (underfill hypothesis), the critical role of sodium in driving fluid retention is generally ...
Islam A K M Monwarul AK Department of Cardiology, National Institute of Cardiovascular Diseases, - - 2014
Sheehan's syndrome is a rare condition characterized by post-partal panhypopituitarism due to necrosis of adenohypophysis resulting from severe post-partum hemorrhage. Lethargy, amenorrhea and failure of lactation are the usual presenting features. Cardiac involvement in Sheehan's syndrome is rare. The case presented here describes dilated cardiomyopathy in a 36-year-old lady who ...
Lee Teresa M TM 1 Department of Pediatrics, Division of Cardiology, Columbia University Medical Center, New York, New York, United States of - - 2014
Dilated cardiomyopathy is characterised by dilation and impaired systolic function. We present the case of a child with dilated cardiomyopathy caused by a 624 kb duplication of 6q22.31, which includes the phospholamban gene. The patient also has failure to thrive and developmental delay due to complex cytogenetic abnormalities including a ...
Saldarriaga Rivera Lina Maria LM Servicio de Reumatología. Hospital Universitario Clementino Fraga Filho, Universidad Federal de Río de Janeiro (HUCFF-UFRJ), Río de Janeiro, Brasil. Electronic address: - - 2014
Noonan's syndrome is an autosomal dominant genetic disorder with high phenotypic variability, characterized mainly by facial dysmorphism, congenital heart disease and short stature. We describe the case of a male patient diagnosed with Noonan's syndrome and peripheral spondyloarthritis, a previously undescribed association in the literature.
Andrukonis Kate K Kate Andrukonis practices emergency medicine at Alamance Regional Medical Center in Burlington, N.C. Caroline Bell practices at Salem Chest Specialists in Winston-Salem, N.C. Lisa Bodine practices at Family Medicine Associates of Alexandria, Va. Emily H. McDowell practices internal medicine at Huntingdon Medical Foundation in Pasadena, Calif. Suzanne Reich practices family medicine at Wake Forest School of Medicine in Winston-Salem, N.C. Ms. Reich and Tanya Gregory are assistant professors in the Department of Physician Assistant Studies at Wake Forest School of Medicine. The authors have indicated no relationships to disclose relating to the content of this - - 2014
Renal and cardiac diseases are nearly ubiquitous in hospitalized patients and common causes of morbidity in outpatients. Although the connection between the heart and kidneys is relatively well known in the medical community, a more formal classification for the clinical interplay of the two systems has been developed only recently. ...
Virzì Grazia Maria GM Department of Nephrology, Dialysis and Transplantation, San Bortolo Hospital, International Renal Research Institute Vicenza, Via Rodolfi 37, Vicenza 36100, Italy. - - 2014
Organ failure in the heart or kidney can initiate various complex metabolic, cell-mediated and humoral pathways affecting distant organs, contributing to the high therapeutic costs and significantly higher morbidity and mortality. The universal outreach of cells in an injured state has myriad consequences to distant organ cells and their milieu. ...
1 2 3 4 5 6 7 8 9 10 >