WorldWideScience

Sample records for heart syndrome links

  1. MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis.

    Science.gov (United States)

    Hsu, Ying-Han R; Yogasundaram, Haran; Parajuli, Nirmal; Valtuille, Lucas; Sergi, Consolato; Oudit, Gavin Y

    2016-01-01

    Heart failure remains an important clinical burden, and mitochondrial dysfunction plays a key role in its pathogenesis. The heart has a high metabolic demand, and mitochondrial function is a key determinant of myocardial performance. In mitochondrial disorders, hypertrophic remodeling is the early pattern of cardiomyopathy with progression to dilated cardiomyopathy, conduction defects and ventricular pre-excitation occurring in a significant proportion of patients. Cardiac dysfunction occurs in approximately a third of patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, a stereotypical example of a mitochondrial disorder leading to a cardiomyopathy. We performed unique comparative ultrastructural and gene expression in a MELAS heart compared with non-failing controls. Our results showed a remarkable increase in mitochondrial inclusions and increased abnormal mitochondria in MELAS cardiomyopathy coupled with variable sarcomere thickening, heterogeneous distribution of affected cardiomyocytes and a greater elevation in the expression of disease markers. Investigation and management of patients with mitochondrial cardiomyopathy should follow the well-described contemporary heart failure clinical practice guidelines and include an important role of medical and device therapies. Directed metabolic therapy is lacking, but current research strategies are dedicated toward improving mitochondrial function in patients with mitochondrial disorders.

  2. Acute heart failure syndrome

    African Journals Online (AJOL)

    and the classical syndrome of chronic persistent heart failure develops. The vast ... Flash pulmonary oedema: This is a severely elevated blood pressure with an .... (CPAP or bilevelNPPV) for cardiogenic pulmonary edema (review). Cochrane.

  3. What is Broken Heart Syndrome

    Science.gov (United States)

    ... pumping action and blood flow, go to the Health Topics How the Heart Works article.) Researchers are trying to identify the precise way in which the stress hormones affect the heart. Broken heart syndrome may result from ...

  4. Hypoplastic left heart syndrome

    Directory of Open Access Journals (Sweden)

    Thiagarajan Ravi

    2007-05-01

    Full Text Available Abstract Hypoplastic left heart syndrome(HLHS refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. HLHS has been reported to occur in approximately 0.016 to 0.036% of all live births. Newborn infants with the condition generally are born at full term and initially appear healthy. As the arterial duct closes, the systemic perfusion becomes decreased, resulting in hypoxemia, acidosis, and shock. Usually, no heart murmur, or a non-specific heart murmur, may be detected. The second heart sound is loud and single because of aortic atresia. Often the liver is enlarged secondary to congestive heart failure. The embryologic cause of the disease, as in the case of most congenital cardiac defects, is not fully known. The most useful diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation. Differential diagnosis includes other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic stenosis, coarctation of the aorta, interrupted aortic arch. Children with the syndrome require surgery as neonates, as they have duct-dependent systemic circulation. Currently, there are two major modalities, primary cardiac transplantation or a series of staged functionally univentricular palliations. The treatment chosen is dependent on the preference of the institution, its experience, and also preference. Although survival following initial surgical intervention has improved significantly over the last 20 years, significant mortality and morbidity are present for both surgical strategies. As a result pediatric cardiologists continue to be challenged by discussions with families regarding initial decision

  5. Congenital Heart Diseases associated with Identified Syndromes ...

    African Journals Online (AJOL)

    Recognised syndromes were seen in 69(68%) cases. Down syndrome with 54 children contributed 78.3% of those with known syndromes. Other identified syndromes and associations were Marfan's, Noonan's, Edwards, Prune Belly, Apert, Ellis-van creveld syndrome and congenital rubella syndrome. Congenital heart ...

  6. X-linked Alport syndrome

    DEFF Research Database (Denmark)

    Jais, Jean Philippe; Knebelmann, Bertrand; Giatras, Iannis

    2003-01-01

    Alport syndrome (AS) is a type IV collagen hereditary disease characterized by progressive hematuric nephritis, hearing loss, and ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease characterized by much less severe disease...... in girls and women. A "European Community Alport Syndrome Concerted Action" (ECASCA) group was established to delineate the Alport syndrome phenotype in each gender and to determine genotype-phenotype correlations in a large number of families. Data concerning 329 families, 250 of them with an X...... to increase after the age of 60 yr in women. Because of the absence of genotype-phenotype correlation and the large intrafamilial phenotypic heterogeneity, early prognosis of the disease in X-linked Alport syndrome carriers remains moot. Risk factors for developing renal failure have been identified...

  7. X-linked Alport syndrome

    DEFF Research Database (Denmark)

    Jais, J P; Knebelmann, B; Giatras, I

    2000-01-01

    Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease....... Considerable allelic heterogeneity has been observed. A "European Community Alport Syndrome Concerted Action" has been established to delineate accurately the AS phenotype and to determine genotype-phenotype correlations in a large number of families. Data concerning 329 families, 250 of them with an X...

  8. Heart transplantation for Churg-Strauss syndrome.

    Science.gov (United States)

    Thomson, D; Chamsi-Pasha, H; Hasleton, P

    1989-01-01

    A patient with heart failure caused by Churg-Strauss syndrome was successfully treated with transplantation. The case was unusual because there was little evidence of Churg-Strauss syndrome in the lung. The patient remains well on standard transplant immunotherapy. Images Figure PMID:2590597

  9. Mapping the x-linked lymphoproliferative syndrome

    International Nuclear Information System (INIS)

    Skare, J.C.; Milunsky, A.; Byron, K.S.; Sullivan, J.L.

    1987-01-01

    The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally

  10. Mapping the x-linked lymphoproliferative syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Skare, J.C.; Milunsky, A.; Byron, K.S.; Sullivan, J.L.

    1987-04-01

    The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally.

  11. Cardiorenal Syndrome in Acute Heart Failure Syndromes

    Directory of Open Access Journals (Sweden)

    Mohammad Sarraf

    2011-01-01

    Full Text Available Impaired cardiac function leads to activation of the neurohumoral axis, sodium and water retention, congestion and ultimately impaired kidney function. This sequence of events has been termed the Cardiorenal Syndrome. This is different from the increase in cardiovascular complications which occur with primary kidney disease, that is, the so-called Renocardiac Syndrome. The present review discusses the pathogenesis of the Cardiorenal Syndrome followed by the benefits and potential deleterious effects of pharmacological agents that have been used in this setting. The agents discussed are diuretics, aquaretics, natriuretic peptides, vasodilators, inotropes and adenosine α1 receptor antagonists. The potential role of ultrafiltration is also briefly discussed.

  12. Congenital heart disease linked to maternal autoimmunity against cardiac myosin.

    Science.gov (United States)

    Cole, Charles R; Yutzey, Katherine E; Brar, Anoop K; Goessling, Lisa S; Van Vickle-Chavez, Sarah J; Cunningham, Madeleine W; Eghtesady, Pirooz

    2014-05-01

    Structural congenital heart disease (CHD) has not previously been linked to autoimmunity. In our study, we developed an autoimmune model of structural CHD that resembles hypoplastic left heart syndrome (HLHS), a life-threatening CHD primarily affecting the left ventricle. Because cardiac myosin (CM) is a dominant autoantigen in autoimmune heart disease, we hypothesized that immunization with CM might lead to transplacental passage of maternal autoantibodies and a prenatal HLHS phenotype in exposed fetuses. Elevated anti-CM autoantibodies in maternal and fetal sera, as well as IgG reactivity in fetal myocardium, were correlated with structural CHD that included diminished left ventricular cavity dimensions in the affected progeny. Further, fetuses that developed a marked HLHS phenotype had elevated serum titers of anti-β-adrenergic receptor Abs, as well as increased protein kinase A activity, suggesting a potential mechanism for the observed pathological changes. Our maternal-fetal model presents a new concept linking autoimmunity against CM and cardiomyocyte proliferation with cardinal features of HLHS. To our knowledge, this report shows the first evidence in support of a novel immune-mediated mechanism for pathogenesis of structural CHD that may have implications in its future diagnosis and treatment.

  13. A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome.

    Science.gov (United States)

    von Elten, Kelley; Sawyer, Taylor; Lentz-Kapua, Sarah; Kanis, Adam; Studer, Matthew

    2013-06-01

    Wolf-Hirschhorn Syndrome (WHS) is a genetic syndrome that includes a typical facial appearance, mental retardation, growth delay, seizures, and congenital cardiac defects. A deletion of the terminal band of the short arm of chromosome 4, with a breakpoint at the 4p15 to 4p16 region, is the most common genetic mutation causing WHS. Congenital heart disease associated with WHS typically includes atrial and ventricular septal defects, though there are a few case reports of associated complex congenital heart disease. Here we report a case of an infant with a large 4p deletion, with a breakpoint at the 4p12 region, and hypoplasic left heart syndrome. We discuss a possible link between the size of the chromosomal deletion in WHS and the severity of the cardiac defect.

  14. Congenital heart defects in Williams syndrome.

    Science.gov (United States)

    Yuan, Shi-Min

    2017-01-01

    Yuan SM. Congenital heart defects in Williams syndrome. Turk J Pediatr 2017; 59: 225-232. Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenges. The typical congenital heart defects in WS were supravalvar aortic stenosis, pulmonary stenosis (both valvular and peripheral), aortic coarctation and mitral valvar prolapse. The atypical cardiovascular anomalies include tetralogy of Fallot, atrial septal defects, aortic and mitral valvular insufficiencies, bicuspid aortic valves, ventricular septal defects, total anomalous pulmonary venous return, double chambered right ventricle, Ebstein anomaly and arterial anomalies. Deletion of the elastin gene on chromosome 7q11.23 leads to deficiency or abnormal deposition of elastin during cardiovascular development, thereby leading to widespread cardiovascular abnormalities in WS. In this article, the distribution, treatment and surgical outcomes of typical and atypical cardiac defects in WS are discussed.

  15. Holiday Heart Syndrome Revisited after 34 Years

    Energy Technology Data Exchange (ETDEWEB)

    Tonelo, David [Faculty of Medicine, University of Coimbra, Coimbra (Portugal); Providência, Rui, E-mail: rui-providencia@yahoo.com; Gonçalves, Lino [Faculty of Medicine, University of Coimbra, Coimbra (Portugal); Coimbras Hospital Centre and University, Coimbra (Portugal)

    2013-01-01

    The cardiovascular effects of alcohol are well known. However, most research has focused on the beneficial effects (the 'French paradox') of moderate consumption or the harmful consequences, such as dilated cardiomyopathy, associated with heavy consumption over an extended period. An association between the ingestion of acute alcohol and onset of cardiac arrhythmias was first reported in the early 70's. In 1978, Philip Ettinger described 'Holiday heart syndrome' (HHS) for the first time, as the occurrence, in healthy people without heart disease known to cause arrhythmia, of an acute cardiac rhythm disturbance, most frequently atrial fibrillation, after binge drinking. The name is derived from the fact that episodes were initially observed more frequently after weekends or public holidays. Since the original description of HHS, 34 years have passed and new research in this field has increased the volume of knowledge related to this syndrome. Throughout this paper the authors will comprehensively review most of the available data concerning HHS and highlight the questions that remain unresolved.

  16. Holiday heart syndrome revisited after 34 years.

    Science.gov (United States)

    Tonelo, David; Providência, Rui; Gonçalves, Lino

    2013-08-01

    The cardiovascular effects of alcohol are well known. However, most research has focused on the beneficial effects (the "French paradox") of moderate consumption or the harmful consequences, such as dilated cardiomyopathy, associated with heavy consumption over an extended period. An association between the ingestion of acute alcohol and onset of cardiac arrhythmias was first reported in the early 70's. In 1978, Philip Ettinger described "Holiday heart syndrome" (HHS) for the first time, as the occurrence, in healthy people without heart disease known to cause arrhythmia, of an acute cardiac rhythm disturbance, most frequently atrial fibrillation, after binge drinking. The name is derived from the fact that episodes were initially observed more frequently after weekends or public holidays. Since the original description of HHS, 34 years have passed and new research in this field has increased the volume of knowledge related to this syndrome. Throughout this paper the authors will comprehensively review most of the available data concerning HHS and highlight the questions that remain unresolved.

  17. Holiday Heart Syndrome Revisited after 34 Years

    International Nuclear Information System (INIS)

    Tonelo, David; Providência, Rui; Gonçalves, Lino

    2013-01-01

    The cardiovascular effects of alcohol are well known. However, most research has focused on the beneficial effects (the 'French paradox') of moderate consumption or the harmful consequences, such as dilated cardiomyopathy, associated with heavy consumption over an extended period. An association between the ingestion of acute alcohol and onset of cardiac arrhythmias was first reported in the early 70's. In 1978, Philip Ettinger described 'Holiday heart syndrome' (HHS) for the first time, as the occurrence, in healthy people without heart disease known to cause arrhythmia, of an acute cardiac rhythm disturbance, most frequently atrial fibrillation, after binge drinking. The name is derived from the fact that episodes were initially observed more frequently after weekends or public holidays. Since the original description of HHS, 34 years have passed and new research in this field has increased the volume of knowledge related to this syndrome. Throughout this paper the authors will comprehensively review most of the available data concerning HHS and highlight the questions that remain unresolved

  18. Pig models for the human heart failure syndrome

    DEFF Research Database (Denmark)

    Hunter, Ingrid; Terzic, Dijana; Zois, Nora Elisabeth

    2014-01-01

    Human heart failure remains a challenging illness despite advances in the diagnosis and treatment of heart failure patients. There is a need for further improvement of our understanding of the failing myocardium and its molecular deterioration. Porcine models provide an important research tool...... in this respect as molecular changes can be examined in detail, which is simply not feasible in human patients. However, the human heart failure syndrome is based on symptoms and signs, where pig models mostly mimic the myocardial damage, but without decisive data on clinical presentation and, therefore, a heart...... to elucidate the human heart failure syndrome....

  19. Orexin: a Missing Link Between Sleep Disorders and Heart Failure?

    Science.gov (United States)

    Pan, Stephen; Cabral, Carolina S; Ashley, Euan A; Perez, Marco V

    2017-04-01

    Sleep disorders represent a significant comorbidity in the heart failure population, and there is mounting evidence that treatment of sleep disorders such as obstructive sleep apnea can significantly improve cardiac function. However, the link between these two disorders is still not entirely clear. Recently, a novel neurohormonal pathway has been elucidated involving signaling molecules now collectively known as the orexins, which have been implicated in regulating autonomic function during sleep/wake cycles. Further evidence has mounted that orexin signaling is deeply perturbed in the setting of sleep disorders, and furthermore that abnormal orexin signaling may be implicated in the pathology of heart failure. The orexin signaling pathway represents an enticing novel target for both the treatment of sleep disorders as well as heart failure, and may represent one facet of the "missing link" between these two prevalent and often comorbid diseases.

  20. LEOPARD syndrome is not linked to the Marfan syndrome and the Watson syndrome loci

    Energy Technology Data Exchange (ETDEWEB)

    Rass-Rothchild, A.: Abeliovitch, D.; Kornstein, A. [Tel Aviv Univ. (Israel)]|[Hebrew Univ., Jerusalem (Israel)

    1994-09-01

    The acronym LEOPARD stands for a syndromic association of Lentigines, Eletrocardiographic changes, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth and sensorineural Deafness. Inheritance is autosomal dominant with high penetrance and variable expressivity. In 1990 Torok et al. reported on the association of LEOPARD and Marfan syndrome. In addition a clinical similarity (cardiac and cutaneous involvement) exists with the Watson syndrome (neurofibromatosis and pulmonic stenosis) which is linked to the marker D17S33 on chromosome 17. We studied possible linkage of LEOPARD syndrome to the Marfan syndrome locus on chromosome 15 (D15S1, MF13, and (TAAAA)n repeats) and to the NF-1 locus on chromosome 17 in a family with 9 cases of LEOPARD syndrome. Close linkage between LEOPARD syndrome and both the Marfan locus on chromosome 15 and the NF-1 locus on chromosome 17 was excluded (lod score <-2.0 through {theta} = 0.1).

  1. Genomic imbalances in syndromic congenital heart disease.

    Science.gov (United States)

    Molck, Miriam Coelho; Simioni, Milena; Paiva Vieira, Társis; Sgardioli, Ilária Cristina; Paoli Monteiro, Fabíola; Souza, Josiane; Fett-Conte, Agnes Cristina; Félix, Têmis Maria; Lopes Monlléo, Isabella; Gil-da-Silva-Lopes, Vera Lúcia

    To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). Clinically significant copy number variations (CNVs ≥300kb) were identified in 10% (8/78) of cases. In addition, potentially relevant CNVs were detected in two cases (993kb duplication in 15q21.1 and 706kb duplication in 2p22.3). Genes inside the CNV regions found in this study, such as IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1, and LTPB1 are known to participate in cardiac development and could be candidate genes for CHD. These data showed that patients presenting CHD with extra cardiac anomalies and exclusion of 22q11.2 DS should be investigated by CMA. The present study emphasizes the possible role of CNVs in CHD. Copyright © 2017 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  2. Syndromes that Link the Endocrine System and Genitourinary Tract.

    Science.gov (United States)

    Özlük, Yasemin; Kılıçaslan, Işın

    2015-01-01

    The endocrine system and genitourinary tract unite in various syndromes. Genitourinary malignancies may cause paraneoplastic endocrine syndromes by secreting hormonal substances. These entities include Cushing`s syndrome, hypercalcemia, hyperglycemia, polycythemia, hypertension, and inappropriate ADH or HCG production. The most important syndromic scenarios that links these two systems are hereditary renal cancer syndromes with specific genotype/phenotype correlation. There are also some very rare entities in which endocrine and genitourinary systems are involved such as Carney complex, congenital adrenal hyperplasia and Beckwith-Wiedemann syndrome. We will review all the syndromes regarding manifestations present in endocrine and genitourinary organs.

  3. Left-sided congenital heart lesions in mosaic Turner syndrome.

    Science.gov (United States)

    Bouayed Abdelmoula, Nouha; Abdelmoula, Balkiss; Smaoui, Walid; Trabelsi, Imen; Louati, Rim; Aloulou, Samir; Aloulou, Wafa; Abid, Fatma; Kammoun, Senda; Trigui, Khaled; Bedoui, Olfa; Denguir, Hichem; Mallek, Souad; Ben Aziza, Mustapha; Dammak, Jamila; Kaabi, Oldez; Abdellaoui, Nawel; Turki, Fatma; Kaabi, Asma; Kamoun, Wafa; Jabeur, Jihen; Ltaif, Wided; Chaker, Kays; Fourati, Haytham; M'rabet, Samir; Ben Ameur, Hedi; Gouia, Naourez; Mhiri, Mohamed Nabil; Rebai, Tarek

    2018-04-01

    In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of this stratagem, mosaicism of both X and Y chromosome which is a common finding in TS and an evaluation of congenital heart diseases in the different situations of mosaic TS types, can be helpful in the identification of disturbed sex chromosomes, genes and signaling pathway actors. Here we report the case of a mosaic TS associated to four left-sided CHD, including BAV, COA, aortic aneurysms and dissections at an early age. The mosaicism included two cell lines, well-defined at the cytogenetic and molecular levels: a cell line which is monosomic for Xp and Xq genes (45,X) and another which is trisomic for pseudoautosomal genes that are present on the X and Y chromosomes and escape X inactivation: 45,X[8]/46,X,idic(Y)(pter→q11.2::q11.2→pter)[42]. This case generates two hypotheses about the contribution of genes linked to the sex chromosomes and the signaling pathways involving these genes, in left-sided heart diseases. The first hypothesis suggests the interaction between X chromosome and autosomal genes or loci of aortic development, possibly dose-dependent, and which could be in the framework of TGF-β-SMAD signaling pathways. The second implies that left-sided congenital heart lesions involve sex chromosomes loci. The reduced dosage of X chromosome gene(s), escaping X inactivation during development, contributes to this type of CHD. Regarding our case, these X chromosome genes may have homologues at the Y chromosome, but the process of inactivation of the centromeres of the isodicentric Y spreads to the concerned Y chromosome genes. Therefore, this case emerges as an invitation to consider the mosaics of Turner syndrome and to study their phenotypes in correlation with their genotypes to discover the underlying developmental and genetic mechanisms, especially the ones related to sex chromosomes.

  4. Total artificial heart implantation in a young Marfan syndrome patient.

    Science.gov (United States)

    Rao, Prashant; Keenan, Jack B; Rajab, Taufiek K; Kim, Samuel; Smith, Richard; Amabile, Orazio; Khalpey, Zain

    2018-03-01

    Cardiovascular complications represent the leading cause of morbidity and mortality in patients with Marfan syndrome. Here, we describe a unique case where a total artificial heart was implanted in a young Marfan syndrome woman. A 22-year-old postpartum African American female with Marfan syndrome developed multiple severe valve dysfunction and biventricular failure that was refractory to medical management. She previously had a Bentall procedure for Type A aortic dissection and repair of a Type B dissection. We implanted a total artificial heart with a good outcome. Total artificial heart is a durable option for severe biventricular failure and multiple valvular dysfunction as a bridge to transplant in a young patient with Marfan syndrome.

  5. Heart and Blood Vessels in Marfan Syndrome

    Science.gov (United States)

    ... The Marfan Foundation Marfan & Related Disorders What is Marfan Syndrome? What are Related Disorders? What are the Signs? ... Contact Us Donate Marfan & Related Disorders What is Marfan Syndrome? What are Related Disorders? What are the Signs? ...

  6. Nitrates for acute heart failure syndromes.

    Science.gov (United States)

    Wakai, Abel; McCabe, Aileen; Kidney, Rachel; Brooks, Steven C; Seupaul, Rawle A; Diercks, Deborah B; Salter, Nigel; Fermann, Gregory J; Pospisil, Caroline

    2013-08-06

    Current drug therapy for acute heart failure syndromes (AHFS) consists mainly of diuretics supplemented by vasodilators or inotropes. Nitrates have been used as vasodilators in AHFS for many years and have been shown to improve some aspects of AHFS in some small studies. The aim of this review was to determine the clinical efficacy and safety of nitrate vasodilators in AHFS. To quantify the effect of different nitrate preparations (isosorbide dinitrate and nitroglycerin) and the effect of route of administration of nitrates on clinical outcome, and to evaluate the safety and tolerability of nitrates in the management of AHFS. We searched the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library 2011, Issue 3), MEDLINE (1950 to July week 2 2011) and EMBASE (1980 to week 28 2011). We searched the Current Controlled Trials MetaRegister of Clinical Trials (compiled by Current Science) (July 2011). We checked the reference lists of trials and contacted trial authors. We imposed no language restriction. Randomised controlled trials comparing nitrates (isosorbide dinitrate and nitroglycerin) with alternative interventions (frusemide and morphine, frusemide alone, hydralazine, prenalterol, intravenous nesiritide and placebo) in the management of AHFS in adults aged 18 and over. Two authors independently performed data extraction. Two authors performed trial quality assessment. We used mean difference (MD), odds ratio (OR) and 95% confidence intervals (CI) to measure effect sizes. Two authors independently assessed and rated the methodological quality of each trial using the Cochrane Collaboration tool for assessing risk of bias. Four studies (634 participants) met the inclusion criteria. Two of the included studies included only patients with AHFS following acute myocardial infarction (AMI); one study excluded patients with overt AMI; and one study included participants with AHFS with and without acute coronary syndromes.Based on a single study

  7. Genetics Home Reference: alpha thalassemia X-linked intellectual disability syndrome

    Science.gov (United States)

    ... Alpha thalassemia X-linked intellectual disability syndrome Alpha thalassemia X-linked intellectual disability syndrome Printable PDF Open ... to view the expand/collapse boxes. Description Alpha thalassemia X-linked intellectual disability syndrome is an inherited ...

  8. Heart and coronary artery damage related to Kawasaki syndrome

    Directory of Open Access Journals (Sweden)

    A. A. Leontyeva

    2014-01-01

    Full Text Available Kawasaki syndrome is an acute systemic vasculitis of unknown etiology, which mainly affects children within the first 5 years of fife. At the present time, Kawasaki syndrome is recognized to be a leading cause of acquired organic heart diseases in children, which may result in coronary heart disease, myocardial infarction, and sudden death in children and young people. Most complications are associated with the cardiovascular system, with coronary artery changes in particular. Transthoracic echocardiography, which, besides coronary artery assessment, makes it possible to evaluate right and left ventricular systolic and diastolic functions and to study the cardiac valves and changes in pericardial effusion, is a major technique in Kawasaki syndrome. The paper outlines an update on the epidemiology, etiology, pathogenetic mechanisms, and pathomorphology of Kawasaki syndrome and considers possible coronary and noncoronary changes, outcomes, and clinical manifestations.

  9. Holiday heart syndrome: a case report | Garba | Nigerian Journal of ...

    African Journals Online (AJOL)

    Alcohol is known to have both beneficial and detrimental effects on the cardiovascular system. An association has been found between alcohol use and rhythm disturbances, especially binge drinking that may occur on holidays and weekends. Not much literature can be found on the prevalence of Holiday Heart Syndrome ...

  10. In-utero treatment of hypoplastic left heart syndrome

    DEFF Research Database (Denmark)

    Lytzen, Rebekka; Helvind, Morten; Jørgensen, Finn Stener

    2015-01-01

    In-utero treatment of fetal aortic stenosis (AS) may prevent hypoplastic left heart syndrome. A girl was diagnosed prenatally with severe AS and was referred to the Women's and Children's Hospital in Linz, Austria, where she underwent an intrauterine valvuloplasty of the aortic valve. Postnatally...

  11. Broken Heart Syndrome – An intra operative complication

    Directory of Open Access Journals (Sweden)

    Zara Wani

    2018-03-01

    Full Text Available We report a case of Broken Heart Syndrome in a 56 year old Postmenopausal woman suffered while undergoing simple biopsy procedure for vocal cord polyp that lead to physical, mental and financial burden both for the patient as well as the doctors. A team of cardiologists based on clinical and echocardiographic findings made the diagnosis of this case.

  12. Metabolic Syndrome: Systems Thinking in Heart Disease.

    Science.gov (United States)

    Dommermuth, Ron; Ewing, Kristine

    2018-03-01

    Metabolic syndrome (MetS) is a cluster of cardiometabolic risk factors. MetS is associated with approximately 4-fold increase in the likelihood of developing type 2 diabetes mellitus (T2DM) and a 2-fold increase in the incidence of cardiovascular disease complications. MetS is a progressive, proinflammatory, prothrombotic condition that manifests itself along a broad spectrum of disease. It is associated with hypertension, obstructive sleep apnea, fatty liver disease, gout, and polycystic ovarian syndrome. Intervening in and reversing the pathologic process become more difficult as the disease progresses, highlighting the needs for increased individual and community surveillance and primary prevention. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. [Organ damage and cardiorenal syndrome in acute heart failure].

    Science.gov (United States)

    Casado Cerrada, Jesús; Pérez Calvo, Juan Ignacio

    2014-03-01

    Heart failure is a complex syndrome that affects almost all organs and systems of the body. Signs and symptoms of organ dysfunction, in particular kidney dysfunction, may be accentuated or become evident for the first time during acute decompensation of heart failure. Cardiorenal syndrome has been defined as the simultaneous dysfunction of both the heart and the kidney, regardless of which of the two organs may have suffered the initial damage and regardless also of their previous functional status. Research into the mechanisms regulating the complex relationship between the two organs is prompting the search for new biomarkers to help physicians detect renal damage in subclinical stages. Hence, a preventive approach to renal dysfunction may be adopted in the clinical setting in the near future. This article provides a general overview of cardiorenal syndrome and an update of the physiopathological mechanisms involved. Special emphasis is placed on the role of visceral congestion as an emergent mechanism in this syndrome. Copyright © 2014 Elsevier España, S.L. All rights reserved.

  14. Congenital heart defects in molecularly proven Kabuki syndrome patients.

    Science.gov (United States)

    Digilio, Maria Cristina; Gnazzo, Maria; Lepri, Francesca; Dentici, Maria Lisa; Pisaneschi, Elisa; Baban, Anwar; Passarelli, Chiara; Capolino, Rossella; Angioni, Adriano; Novelli, Antonio; Marino, Bruno; Dallapiccola, Bruno

    2017-11-01

    The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to 80%. Between January 2012 and December 2015, 28 patients had a molecularly proven diagnosis of Kabuki syndrome. Pathogenic variants in KMT2D (MLL2) were detected in 27 patients, and in KDM6A gene in one. CHD was diagnosed in 19/27 (70%) patients with KMT2D (MLL2) variant, while the single patient with KDM6A change had a normal heart. The anatomic types among patients with CHD included aortic coarctation (4/19 = 21%) alone or associated with an additional CHD, bicuspid aortic valve (4/19 = 21%) alone or associated with an additional CHD, perimembranous subaortic ventricular septal defect (3/19 = 16%), atrial septal defect ostium secundum type (3/19 = 16%), conotruncal heart defects (3/19 = 16%). Additional CHDs diagnosed in single patients included aortic dilatation with mitral anomaly and hypoplastic left heart syndrome. We also reviewed CHDs in patients with a molecular diagnosis of Kabuki syndrome reported in the literature. In conclusion, a CHD is detected in 70% of patients with KMT2D (MLL2) pathogenic variants, most commonly left-sided obstructive lesions, including multiple left-sided obstructions similar to those observed in the spectrum of the Shone complex, and septal defects. Clinical management of Kabuki syndrome should include echocardiogram at the time of diagnosis, with particular attention to left-sided obstructive lesions and mitral anomalies, and annual monitoring for aortic arch dilatation. © 2017 Wiley Periodicals, Inc.

  15. Stress--the battle for hearts and minds: links between depression, stress and ischemic heart disease.

    Science.gov (United States)

    Korszun, Ania; Frenneaux, Michael P

    2006-09-01

    Depression and ischemic heart disease (IHD) are strongly related common disorders. Depression itself is an independent cardiac risk factor and is associated with a two- to threefold increase in IHD mortality. Attention has now shifted to identifying the common underlying mechanisms that could make individuals susceptible to both disorders. Abnormalities that have been implicated in this relationship include abnormal platelet activation, decreased baroreceptor sensitivity and endothelial dysfunction. Depression and IHD both have a high association with environmental stress, and depression is characterized by abnormalities of the stress-hormone axis. This review provides a brief overview of some recent developments in our understanding of the pathophysiological links between stress, depression and IHD.

  16. Metabolic syndrome in patients with ischemic heart disease

    International Nuclear Information System (INIS)

    Yasmin, S.; Naveed, T.; Shakoor, T.

    2008-01-01

    To determine the frequency of metabolic syndrome in patients with Ischemic Heart Disease (IHD). Cross-sectional, descriptive study. A total of 100 subjects with ischemic heart disease, fulfilling the inclusion criteria, were enrolled in the study. Demographic data (age and gender) and the 5 component conditions of the metabolic syndrome were noted. Subjects were physically assessed for the abdominal obesity, based on waist circumference. Fasting blood samples for glucose and lipid profile in first 24 hours after acute coronary insult were drawn and tested in central laboratory. Variables were processed for descriptive statistics. In this study population, 68% were male and 32% were female with mean age of 52 +-13.6 years in men and 56 +- 12.5 years in women. Frequency of metabolic syndrome was 32% in men and 28% in women. It increased with age. The highest rate of metabolic syndrome was in men diagnosed as STEMI (odds ratio: 3.39, 95% CI=1.36-8.41). Frequency of metabolic syndrome was high among the patients with IHD. It supports the potential for preventive efforts in persons with high-risk of IHD. (author)

  17. Cardiorenal Syndrome in Acute Heart Failure: Revisiting Paradigms.

    Science.gov (United States)

    Núñez, Julio; Miñana, Gema; Santas, Enrique; Bertomeu-González, Vicente

    2015-05-01

    Cardiorenal syndrome has been defined as the simultaneous dysfunction of both the heart and the kidney. Worsening renal function that occurs in patients with acute heart failure has been classified as cardiorenal syndrome type 1. In this setting, worsening renal function is a common finding and is due to complex, multifactorial, and not fully understood processes involving hemodynamic (renal arterial hypoperfusion and renal venous congestion) and nonhemodynamic factors. Traditionally, worsening renal function has been associated with worse outcomes, but recent findings have revealed mixed and heterogeneous results, perhaps suggesting that the same phenotype represents a diversity of pathophysiological and clinical situations. Interpreting the magnitude and chronology of renal changes together with baseline renal function, fluid overload status, and clinical response to therapy might help clinicians to unravel the clinical meaning of renal function changes that occur during an episode of heart failure decompensation. In this article, we critically review the contemporary evidence on the pathophysiology and clinical aspects of worsening renal function in acute heart failure. Copyright © 2014 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

  18. CHARGE and Kabuki syndromes: a phenotypic and molecular link.

    Science.gov (United States)

    Schulz, Yvonne; Freese, Luisa; Mänz, Johanna; Zoll, Barbara; Völter, Christiane; Brockmann, Knut; Bögershausen, Nina; Becker, Jutta; Wollnik, Bernd; Pauli, Silke

    2014-08-15

    CHARGE syndrome is a complex developmental disorder caused by mutations in the chromodomain helicase DNA-binding gene CHD7. Kabuki syndrome, another developmental disorder, is characterized by typical facial features in combination with developmental delay, short stature, prominent digit pads and visceral abnormalities. Mutations in the KMT2D gene, which encodes a H3K4 histone methyltransferase, are the major cause of Kabuki syndrome. Here, we report a patient, who was initially diagnosed with CHARGE syndrome based on the spectrum of inner organ malformations like choanal hypoplasia, heart defect, anal atresia, vision problems and conductive hearing impairment. While sequencing and MLPA analysis of all coding exons of CHD7 revealed no pathogenic mutation, sequence analysis of the KMT2D gene identified the heterozygous de novo nonsense mutation c.5263C > T (p.Gln1755*). Thus, our patient was diagnosed with Kabuki syndrome. By using co-immunoprecipitation, immunohistochemistry and direct yeast two hybrid assays, we could show that, like KMT2D, CHD7 interacts with members of the WAR complex, namely WDR5, ASH2L and RbBP5. We therefore propose that CHD7 and KMT2D function in the same chromatin modification machinery, thus pointing out a mechanistic connection, and presenting a probable explanation for the phenotypic overlap between Kabuki and CHARGE syndromes. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  19. Ivabradine in acute coronary syndromes: Protection beyond heart rate lowering.

    Science.gov (United States)

    Niccoli, Giampaolo; Borovac, Josip Anđelo; Vetrugno, Vincenzo; Camici, Paolo G; Crea, Filippo

    2017-06-01

    Ivabradine is a heart rate reducing agent that exhibits anti-ischemic effects through the inhibition of funny electrical current in the sinus node resulting in heart rate reduction, thus enabling longer diastolic perfusion time, and reduced myocardial oxygen consumption without detrimental changes in arterial blood pressure, coronary vasomotion, and ventricular contractility. The current guideline-based clinical use of Ivabradine is reserved for patients with stable angina pectoris who cannot tolerate or whose symptoms are inadequately controlled with beta blockers. In patients with chronic heart failure and reduced ejection fraction, Ivabradine has demonstrated beneficial effects in improving clinical outcomes when added to conventional therapy. However, the role of Ivabradine in acute coronary syndromes has not been established. Based on the results from some relevant preclinical studies and a limited amount of clinical data that were reported recently, the role of Ivabradine in acute ischemic events warrants further investigation. The aim of this review is to provide an overview of the available literature on the potential role of Ivabradine in the clinical context of acute coronary syndromes. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. Sheehan's Syndrome Presenting with Early Postpartum Congestive Heart Failure

    Directory of Open Access Journals (Sweden)

    Shu-Yi Wang

    2005-08-01

    Full Text Available We report the case of a young woman with Sheehan's syndrome who presented with ventricular arrhythmia and congestive heart failure. The patient was admitted because of postpartum hemorrhage and hypovolemic shock; a massive blood transfusion was required to restore blood volume. After initial stabilization, the patient developed acute respiratory distress and congestive heart failure accompanied by hemodynamic instability 2 weeks after delivery. Episodes of ventricular tachycardia of the torsade de pointes type and a prolonged QT interval were noted on baseline electrocardiogram. A low cortisol level was found incidentally, which led to the suspicion of hypopituitarism. The diagnosis was later supported by laboratory findings of multiple pituitary hormone deficiencies. After administration of corticosteroids and thyroxine, the patient's clinical condition improved dramatically. A pituitary magnetic resonance imaging scan 32 days after delivery revealed a diminished and flattened pituitary gland with prominent intrasellar cerebrospinal fluid loculation, which was compatible with the clinical diagnosis of empty sella with panhypopituitarism. The syndrome of acute anterior pituitary necrosis secondary to postpartum hemorrhage and shock was first described by Sheehan in 1939. Although the occurrence of Sheehan's syndrome is now rare, it should still be considered in any woman with a history of peripartum hemorrhage who develops manifestations of pituitary hormone deficiency. Appropriate hormone replacement therapy is essential and always results in dramatic clinical improvement.

  1. X-Linked and Autosomal Recessive Alport Syndrome

    DEFF Research Database (Denmark)

    Savige, Judith; Storey, Helen; Il Cheong, Hae

    2016-01-01

    Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic laboratories worldwide, in addition to all published...... COL4A5, COL4A3 and COL4A4 variants in the LOVD databases. It also determined genotype-phenotype correlations for variants where clinical data were available. Individuals were referred for genetic testing where Alport syndrome was suspected clinically or on biopsy (renal failure, hearing loss...

  2. Frailty syndrome in patients with heart rhythm disorders.

    Science.gov (United States)

    Mlynarska, Agnieszka; Mlynarski, Rafal; Golba, Krzysztof S

    2017-09-01

    To assess the prevalence of frailty syndrome in patients with heart rhythm disorders that qualified for pacemaker implantation. The study included 171 patients (83 women, aged 73.9 ± 6.7 years) who qualified for pacemaker implantation as a result of sinus node dysfunction (81 patients) or atrio-ventricular blocks (AVB; 90 patients). A total of 60 patients (25 women, aged 72.40 ± 7.09 years) without heart rhythm disorders were included in the control group. Frailty syndrome was diagnosed using the Canadian Study of Health and Aging Clinical Frailty Scale test. Frailty syndrome was diagnosed in 25.15% of the patients, and pre-frailty in 36.84% of the patients. Frailty syndrome was diagnosed in 10% of the control group, and the average value of frailty was 3.35 ± 0.92. Frailty occurred significantly more often among patients with AVB (33.34%) compared with patients who were diagnosed with sinus node dysfunction (16.05%); P = 0.0081. The average score of frailty for sinus node dysfunction was 3.71 ± 0.89, and for AVB it was 4.14 ± 0.93; P = 0.0152. In the case of AVB, the women had a statistically more intense level of frailty of 4.54 ± 0.90 as compared with the men 3.87 ± 0.85; P = 0.0294. In the multiple logistic analysis, the presence of any arrhythmia was strongly associated with frailty syndrome (OR 2.1286, 95% CI 1.4594 - 3.1049; P = 0.0001). Frailty syndrome was diagnosed in one-quarter of patients with cardiac arrhythmias, whereas a further 40% were at a higher risk of frailty syndrome, and its occurrence was significantly higher if compared with the control group. Frailty occurred significantly more often among patients with atrio-ventricular blocks, especially in women. The results of the present research showed that there is a statistical association between frailty and arrhythmias. Geriatr Gerontol Int 2017; 17: 1313-1318. © 2016 Japan Geriatrics Society.

  3. Usher syndrome: molecular links of pathogenesis, proteins and pathways.

    Science.gov (United States)

    Kremer, Hannie; van Wijk, Erwin; Märker, Tina; Wolfrum, Uwe; Roepman, Ronald

    2006-10-15

    Usher syndrome is the most common form of deaf-blindness. The syndrome is both clinically and genetically heterogeneous, and to date, eight causative genes have been identified. The proteins encoded by these genes are part of a dynamic protein complex that is present in hair cells of the inner ear and in photoreceptor cells of the retina. The localization of the Usher proteins and the phenotype in animal models indicate that the Usher protein complex is essential in the morphogenesis of the stereocilia bundle in hair cells and in the calycal processes of photoreceptor cells. In addition, the Usher proteins are important in the synaptic processes of both cell types. The association of other proteins with the complex indicates functional links to a number of basic cell-biological processes. Prominently present is the connection to the dynamics of the actin cytoskeleton, involved in cellular morphology, cell polarity and cell-cell interactions. The Usher protein complex can also be linked to the cadherins/catenins in the adherens junction-associated protein complexes, suggesting a role in cell polarity and tissue organization. A third link can be established to the integrin transmembrane signaling network. The Usher interactome, as outlined in this review, participates in pathways common in inner ear and retina that are disrupted in the Usher syndrome.

  4. [metabonomics research on coronary heart disease patients of phlegm turbidity syndrome and qi deficiency syndrome].

    Science.gov (United States)

    Cheng, Peng; Chen, Ze-qi; Wang, Dong-sheng

    2015-02-01

    To study the correlation between Chinese medical types of coronary heart disease (CHD) [i.e., phlegm turbidity syndrome (PTS) and qi deficiency syndrome (QDS)] and their metabolites. Recruited were 65 CHD patients including 37 cases of PTS and 28 cases of QDS. Serum endogenous metabolites in the two syndrome types were determined by gas chromatograph-mass spectrometer-computer (GC/MS), and their differences between their metabolic profiles analyzed. More than 100 chromatographic peaks were totally scanned. Chromatograms obtained was matched with mass spectrum bank, and finally we got the category contribution value of 46 kinds of substances. Results of MCTree analysis showed patients of PTS and patients of QDS could be effectively distinguished. Compounds contributing to identify the two syndromes were sequenced as serine, valine, 2 hydroxy propionic acid. Comparison of metabolites showed contents of serine and 2 hydroxy propionic acid were higher in patients of PTS than in patients of QDS (Pmetabonomics of CHD TCM syndrome types could provide material bases for TCM syndrome differentiation of CHD, indicating that metabonomics technologies might become a new research method for TCM syndrome typing.

  5. The role of levosimendan in acute heart failure complicating acute coronary syndrome

    DEFF Research Database (Denmark)

    Nieminen, Markku S; Buerke, M.; Cohen-Solal, A.

    2016-01-01

    Acute heart failure and/or cardiogenic shock are frequently triggered by ischemic coronary events. Yet, there is a paucity of randomized data on the management of patients with heart failure complicating acute coronary syndrome, as acute coronary syndrome and cardiogenic shock have frequently bee...

  6. [Pulmonary hypertension associated with congenital heart disease and Eisenmenger syndrome].

    Science.gov (United States)

    Calderón-Colmenero, Juan; Sandoval Zárate, Julio; Beltrán Gámez, Miguel

    2015-01-01

    Pulmonary arterial hypertension is a common complication of congenital heart disease (CHD). Congenital cardiopathies are the most frequent congenital malformations. The prevalence in our country remains unknown, based on birthrate, it is calculated that 12,000 to 16,000 infants in our country have some cardiac malformation. In patients with an uncorrected left-to-right shunt, increased pulmonary pressure leads to vascular remodeling and endothelial dysfunction secondary to an imbalance in vasoactive mediators which promotes vasoconstriction, inflammation, thrombosis, cell proliferation, impaired apotosis and fibrosis. The progressive rise in pulmonary vascular resistance and increased pressures in the right heart provocated reversal of the shunt may arise with the development of Eisenmenger' syndrome the most advanced form de Pulmonary arterial hypertension associated with congenital heart disease. The prevalence of Pulmonary arterial hypertension associated with CHD has fallen in developed countries in recent years that is not yet achieved in developing countries therefore diagnosed late as lack of hospital infrastructure and human resources for the care of patients with CHD. With the development of targeted medical treatments for pulmonary arterial hypertension, the concept of a combined medical and interventional/surgical approach for patients with Pulmonary arterial hypertension associated with CHD is a reality. We need to know the pathophysiological factors involved as well as a careful evaluation to determine the best therapeutic strategy. Copyright © 2014 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

  7. [Acute Stress and Broken Heart Syndrome. A Case Report].

    Science.gov (United States)

    Vergel, Juliana; Tamayo-Orozco, Sebastián; Vallejo-Gómez, Andrés Felipe; Posada, María Teresa; Restrepo, Diana

    Stress has been associated with an acute heart failure syndrome of important morbidity and mortality. Case report and non-systematic review of the relevant literature. A 65-year-old woman with a history of an untreated generalized anxiety disorder, whom after the violent death of her son presented with oppressive chest pain irradiated to neck and left superior extremity, lasting for more than 30minutes, initial clinical suspect suggests acute coronary syndrome. Tako-tsubo cardiomyopathy is characterized by a reversible left ventricular dysfunction and wall movement abnormalities, without any compromise of the coronary arteries, associated to high plasma levels of catecholamines which in most cases correlates with an acute stress of emotional or physical type. Tako-tsubo cardiomyopathy has to be considered by physicians among the differential diagnosis when facing a patient with suspected acute coronary syndrome, especially in post-menopausal women with a history of psychiatric comorbidities such as a generalized anxiety disorder. Copyright © 2016 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  8. Assessing Metabolic Syndrome Through Increased Heart Rate During Exercise

    Directory of Open Access Journals (Sweden)

    Masoumeh Sadeghi

    2016-12-01

    Full Text Available The present study aimed to assess changes in resting and maximum heart rates as primary indicators of cardiac autonomic function in metabolic syndrome (MetS patients and to determine their value for discriminating MetS from non-MetS. 468 participants were enrolled in this cross-sectional study and assessed according to the updated adult treatment panel III (ATP-III definition of MetS. Resting and maximum heart rates were recorded following the Bruce protocol during an exercise. A receiver operating characteristic (ROC curve was used to identify the best cutoff point for discriminating MetS from the non-MetS state. 194 participants (41.5% were diagnosed as MetS. The mean resting heart rate (RHR was not statistically different between the two groups (P=0.078. However, the mean maximum heart (MHR rate was considerably higher in participants with MetS (142.37±14.84 beats per min compared to the non-MetS group (134.62±21.63 beats per min (P<0.001. In the MetS group, the MHR was positively correlated with the serum triglyceride level (β=0.185, P=0.033 and was inversely associated with age (β=-0.469, P<0.001. The MHR had a moderate value for discriminating MetS from the non-MetS state (c=0.580, P=0.004 with the optimal cutoff point of 140 beats per min. In MetS patients, the MHR was significantly greater compared to non-MetS subjects and was directly correlated with serum triglyceride levels and inversely with advanced age. Moreover, MHR can be used as a suspicious indicator for identifying MetS.

  9. Assessing Metabolic Syndrome Through Increased Heart Rate During Exercise.

    Science.gov (United States)

    Sadeghi, Masoumeh; Gharipour, Mojgan; Nezafati, Pouya; Shafie, Davood; Aghababaei, Esmaeil; Sarrafzadegan, Nizal

    2016-11-01

    The present study aimed to assess changes in resting and maximum heart rates as primary indicators of cardiac autonomic function in metabolic syndrome (MetS) patients and to determine their value for discriminating MetS from non-MetS. 468 participants were enrolled in this cross-sectional study and assessed according to the updated adult treatment panel III (ATP-III) definition of MetS. Resting and maximum heart rates were recorded following the Bruce protocol during an exercise. A receiver operating characteristic (ROC) curve was used to identify the best cutoff point for discriminating MetS from the non-MetS state. 194 participants (41.5%) were diagnosed as MetS. The mean resting heart rate (RHR) was not statistically different between the two groups (P=0.078). However, the mean maximum heart (MHR) rate was considerably higher in participants with MetS (142.37±14.84 beats per min) compared to the non-MetS group (134.62±21.63 beats per min) (P<0.001). In the MetS group, the MHR was positively correlated with the serum triglyceride level (β=0.185, P=0.033) and was inversely associated with age (β=-0.469, P<0.001). The MHR had a moderate value for discriminating MetS from the non-MetS state (c=0.580, P=0.004) with the optimal cutoff point of 140 beats per min. In MetS patients, the MHR was significantly greater compared to non-MetS subjects and was directly correlated with serum triglyceride levels and inversely with advanced age. Moreover, MHR can be used as a suspicious indicator for identifying MetS.

  10. Hypoplastic left heart syndrome - a review of supportive percutaneous treatment.

    Science.gov (United States)

    Moszura, Tomasz; Góreczny, Sebastian; Dryżek, Paweł

    2014-01-01

    Due to the complex anatomical and haemodynamic consequences of hypoplastic left heart syndrome (HLHS), patients with the condition require multistage surgical and supportive interventional treatment. Percutaneous interventions may be required between each stage of surgical palliation, sometimes simultaneously with surgery as hybrid interventions, or after completion of multistage treatment. Recent advances in the field of interventional cardiology, including new devices and techniques, have significantly contributed to improving results of multistage HLHS palliation. Knowledge of the potential interventional options as well as the limitation of percutaneous interventions will enable the creation of safe and effective treatment protocols in this highly challenging group of patients. In this comprehensive review we discuss the types, goals, and potential complications of transcatheter interventions in patients with HLHS.

  11. Cardiopulmonary physiology: why the heart and lungs are inextricably linked.

    Science.gov (United States)

    Verhoeff, Kevin; Mitchell, Jamie R

    2017-09-01

    Because the heart and lungs are confined within the thoracic cavity, understanding their interactions is integral for studying each system. Such interactions include changes in external constraint to the heart, blood volume redistribution (venous return), direct ventricular interaction (DVI), and left ventricular (LV) afterload. During mechanical ventilation, these interactions can be amplified and result in reduced cardiac output. For example, increased intrathoracic pressure associated with mechanical ventilation can increase external constraint and limit ventricular diastolic filling and, therefore, output. Similarly, high intrathoracic pressures can alter blood volume distribution and limit diastolic filling of both ventricles while concomitantly increasing pulmonary vascular resistance, leading to increased DVI, which may further limit LV filling. While LV afterload is generally considered to decrease with increased intrathoracic pressure, the question arises if the reduced LV afterload is primarily a consequence of a reduced LV preload. A thorough understanding of the interaction between the heart and lungs can be complicated but is essential for clinicians and health science students alike. In this teaching review, we have attempted to highlight the present understanding of certain salient aspects of cardiopulmonary physiology and pathophysiology, as well as provide a resource for multidisciplined health science educators and students. Copyright © 2017 the American Physiological Society.

  12. Holt-Oram Syndrome in Adult Presenting with Heart Failure: A Rare Presentation

    Directory of Open Access Journals (Sweden)

    Rupesh Kumar

    2014-01-01

    Full Text Available Holt-Oram syndrome is a rare inherited disorder involving the hands, arms, and the heart. The defects involve carpal bones of the wrist and the thumb and the associated cardiac anomalies like atrial or ventricular septal defects. Congenital cardiac and upper-limb malformations frequently occur together and are classified as heart-hand syndromes. The most common amongst the heart-hand disorders is the Holt-Oram syndrome, which is characterized by septal defects of the heart and preaxial radial ray abnormalities. Its incidence is one in 100,000 live births. Approximately three out of four patients have some cardiac abnormality with common associations being either an atrial septal defect or ventricular septal defect. Herein, we report a rare sporadic case of Holt-Oram syndrome with atrial septal defect with symptoms of heart failure in a forty-five-year-old lady who underwent emergency cardiac surgery for the symptoms.

  13. Growth curves in Down syndrome with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Caroline D’Azevedo Sica

    Full Text Available SUMMARY Introduction: To assess dietary habits, nutritional status and food frequency in children and adolescents with Down syndrome (DS and congenital heart disease (CHD. Additionally, we attempted to compare body mass index (BMI classifications according to the World Health Organization (WHO curves and curves developed for individuals with DS. Method: Cross-sectional study including individuals with DS and CHD treated at a referral center for cardiology, aged 2 to 18 years. Weight, height, BMI, total energy and food frequency were measured. Nutritional status was assessed using BMI for age and gender, using curves for evaluation of patients with DS and those set by the WHO. Results: 68 subjects with DS and CHD were evaluated. Atrioventricular septal defect (AVSD was the most common heart disease (52.9%. There were differences in BMI classification between the curves proposed for patients with DS and those proposed by the WHO. There was an association between consumption of vitamin E and polyunsaturated fatty acids. Conclusion: Results showed that individuals with DS are mostly considered normal weight for age, when evaluated using specific curves for DS. Reviews on specific curves for DS would be the recommended practice for health professionals so as to avoid precipitated diagnosis of overweight and/or obesity in this population.

  14. Tetralogy of Fallot and Hypoplastic Left Heart Syndrome – Complex Clinical Phenotypes Meet Complex Genetic Networks

    Science.gov (United States)

    Lahm, Harald; Schön, Patric; Doppler, Stefanie; Dreßen, Martina; Cleuziou, Julie; Deutsch, Marcus-André; Ewert, Peter; Lange, Rüdiger; Krane, Markus

    2015-01-01

    In many cases congenital heart disease (CHD) is represented by a complex phenotype and an array of several functional and morphological cardiac disorders. These malformations will be briefly summarized in the first part focusing on two severe CHD phenotypes, hypoplastic left heart syndrome (HLHS) and tetralogy of Fallot (TOF). In most cases of CHD the genetic origin remains largely unknown, though the complexity of the clinical picture strongly argues against a dysregulation which can be attributed to a single candidate gene but rather suggests a multifaceted polygenetic origin with elaborate interactions. Consistent with this idea, genome-wide approaches using whole exome sequencing, comparative sequence analysis of multiplex families to identify de novo mutations and global technologies to identify single nucleotide polymorphisms, copy number variants, dysregulation of the transcriptome and epigenetic variations have been conducted to obtain information about genetic alterations and potential predispositions possibly linked to the occurrence of a CHD phenotype. In the second part of this review we will summarize and discuss the available literature on identified genetic alterations linked to TOF and HLHS. PMID:26069455

  15. [Study on treatment of irritable bowel syndrome: based on relationship between heart and intestines].

    Science.gov (United States)

    Wang, Su-Na; Wang, Zu-Hong; Xie, Su-Juan; Han, Li-Bing; Yi, Rong

    2010-11-01

    The article puts forward the treatment of irritable bowel syndrome through regulating heart vitality since it is held that the pathological factors of the disease lay in dysfunction of heart and intestines as well as disorder of qi circulation. At the same time, the internal-external relationship between the heart the small intestine is discussed from the theory of Brain-gut Axis in modern medicine, which provides theoretical base of modern medicine for the treatment of irritable bowel syndrome through regulation of the heart functions.

  16. Complete heart block in a patient with POEMS syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Farzaneh Ashrafi

    2014-09-01

    Full Text Available BACKGROUND: Polyneuropathy, organomegaly, endocrinopathy, monoclonal syndrome (POEMS is a rare paraneoplastic syndrome associated with plasma cell dyscrasia. CASE REPORT: A 48-year-old man presented with a 1-year history of paresthesia and progressive weakness of extremities. Diagnosis of POEMS syndrome was made for him on the basis of clinical presentation, additional physical findings, typical sclerotic bone lesion, and bone marrow findings. In last admission, he explained episodes of dyspnea and chest pain that associated with frequent premature ventricular contraction in his electrocardiograph. Patient heart monitoring showed some episodes of complete heart block. Infra-His atrioventricular block in electro-physiologic study was detected. He had no history of ischemic heart disease. His cardiopulmonary findings on examination were normal. All results of cardiac biomarkers and serum electrolytes and repeated echocardiography were within normal range. Cong red staining of rectal fat pad biopsy was negative. After pacemaker insertion radiation of sclerotic bone, lesion started for him, but radiotherapy was ineffective, and he expired with respiratory failure. Complete heart block in POEMS syndrome has not been reported previously, and it is the first POEMS case with complete heart block. CONCLUSION: Complete heart block is a cardiac manifestation of POEMS syndrome.   Keywords: Complete Heart Block, POEM Syndrome, Multiple Meloma 

  17. Continuous ECG Monitoring in Patients With Acute Coronary Syndrome or Heart Failure: EASI Versus Gold Standard.

    Science.gov (United States)

    Lancia, Loreto; Toccaceli, Andrea; Petrucci, Cristina; Romano, Silvio; Penco, Maria

    2018-05-01

    The purpose of the study was to compare the EASI system with the standard 12-lead surface electrocardiogram (ECG) for the accuracy in detecting the main electrocardiographic parameters (J point, PR, QT, and QRS) commonly monitored in patients with acute coronary syndromes or heart failure. In this observational comparative study, 253 patients who were consecutively admitted to the coronary care unit with acute coronary syndrome or heart failure were evaluated. In all patients, two complete 12-lead ECGs were acquired simultaneously. A total of 6,072 electrocardiographic leads were compared (3,036 standard and 3,036 EASI). No significant differences were found between the investigate parameters of the two measurement methods, either in patients with acute coronary syndrome or in those with heart failure. This study confirmed the accuracy of the EASI system in monitoring the main ECG parameters in patients admitted to the coronary care unit with acute coronary syndrome or heart failure.

  18. GRACE score predicts heart failure admission following acute coronary syndrome.

    Science.gov (United States)

    McAllister, David A; Halbesma, Nynke; Carruthers, Kathryn; Denvir, Martin; Fox, Keith A

    2015-04-01

    Congestive heart failure (CHF) is a common and preventable complication of acute coronary syndrome (ACS). Nevertheless, ACS risk scores have not been shown to predict CHF risk. We investigated whether the at-discharge Global Registry of Acute Coronary Events (GRACE) score predicts heart failure admission following ACS. Five-year mortality and hospitalization data were obtained for patients admitted with ACS from June 1999 to September 2009 to a single centre of the GRACE registry. CHF was defined as any admission assigned WHO International Classification of Diseases 10 diagnostic code I50. The hazard ratio (HR) for CHF according to GRACE score was estimated in Cox models adjusting for age, gender and the presence of CHF on index admission. Among 1,956 patients, CHF was recorded on index admission in 141 patients (7%), and 243 (12%) were admitted with CHF over 3.8 median years of follow-up. Compared to the lowest quintile, patients in the highest GRACE score quintile had more CHF admissions (116 vs 17) and a shorter time to first admission (1.2 vs 2.0 years, HR 9.87, 95% CI 5.93-16.43). Per standard deviation increment in GRACE score, the instantaneous risk was more than two-fold higher (HR 2.28; 95% CI 2.02-2.57), including after adjustment for CHF on index admission, age and gender (HR 2.49; 95% CI 2.06-3.02). The C-statistic for CHF admission at 1-year was 0.74 (95% CI 0.70-0.79). The GRACE score predicts CHF admission, and may therefore be used to target ACS patients at high risk of CHF with clinical monitoring and therapies. © The European Society of Cardiology 2014.

  19. Cardiovascular magnetic resonance imaging of hypoplastic left heart syndrome in children

    International Nuclear Information System (INIS)

    Dillman, Jonathan R.; Hernandez, Ramiro J.; Dorfman, Adam L.; Attili, Anil K.; Agarwal, Prachi P.; Mueller, Gisela C.; Bell, Aaron

    2010-01-01

    Cardiovascular magnetic resonance imaging (CMR) plays an important complementary role to echocardiography and conventional angiography in the evaluation of hypoplastic left heart syndrome. This imaging modality is particularly useful for assessing cardiovascular postsurgical changes, extracardiac vascular anatomy, ventricular and valvular function, and a variety of complications. The purpose of this article is to provide a contemporary review of the role of CMR in the management of untreated and surgically palliated hypoplastic left heart syndrome in children. (orig.)

  20. Polycystic ovary syndrome and periodontal disease: Underlying links- A review

    Directory of Open Access Journals (Sweden)

    Sri Chandana Tanguturi

    2018-01-01

    Full Text Available Polycystic ovary syndrome (PCOS is the most common endocrine disorder among women of reproductive age, which negatively affects various health systems. There is an extensive literature regarding the association of PCOS and other systemic conditions such as diabetes mellitus, cardiovascular disease, and psychological disorders. However, there is a lack of literature in associating PCOS and periodontal disease. Hence, PubMed search was done for various articles related to PCOS and its association with other comorbidities, including periodontal diseases. Analysis was done and data were synthesized and compiled in a sequential and presentable paradigm. This literature review of the pathophysiological mechanisms linking the two diseases suggests a positive relation between the two comorbidities. However, multicenter studies, with larger sample sizes, are to be conducted to establish a clearer and stronger association.

  1. X-linked acrogigantism syndrome: clinical profile and therapeutic responses.

    Science.gov (United States)

    Beckers, Albert; Lodish, Maya Beth; Trivellin, Giampaolo; Rostomyan, Liliya; Lee, Misu; Faucz, Fabio R; Yuan, Bo; Choong, Catherine S; Caberg, Jean-Hubert; Verrua, Elisa; Naves, Luciana Ansaneli; Cheetham, Tim D; Young, Jacques; Lysy, Philippe A; Petrossians, Patrick; Cotterill, Andrew; Shah, Nalini Samir; Metzger, Daniel; Castermans, Emilie; Ambrosio, Maria Rosaria; Villa, Chiara; Strebkova, Natalia; Mazerkina, Nadia; Gaillard, Stéphan; Barra, Gustavo Barcelos; Casulari, Luis Augusto; Neggers, Sebastian J; Salvatori, Roberto; Jaffrain-Rea, Marie-Lise; Zacharin, Margaret; Santamaria, Beatriz Lecumberri; Zacharieva, Sabina; Lim, Ee Mun; Mantovani, Giovanna; Zatelli, Maria Chaira; Collins, Michael T; Bonneville, Jean-François; Quezado, Martha; Chittiboina, Prashant; Oldfield, Edward H; Bours, Vincent; Liu, Pengfei; W de Herder, Wouter; Pellegata, Natalia; Lupski, James R; Daly, Adrian F; Stratakis, Constantine A

    2015-06-01

    X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological, and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and microduplication of chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in two families was dominant, with all Xq26.3 duplication carriers being affected. Patients began to grow rapidly as early as 2-3 months of age (median 12 months). At diagnosis (median delay 27 months), patients had a median height and weight standard deviation scores (SDS) of >+3.9 SDS. Apart from the increased overall body size, the children had acromegalic symptoms including acral enlargement and facial coarsening. More than a third of cases had increased appetite. Patients had marked hypersecretion of GH/IGF1 and usually prolactin, due to a pituitary macroadenoma or hyperplasia. Primary neurosurgical control was achieved with extensive anterior pituitary resection, but postoperative hypopituitarism was frequent. Control with somatostatin analogs was not readily achieved despite moderate to high levels of expression of somatostatin receptor subtype-2 in tumor tissue. Postoperative use of adjuvant pegvisomant resulted in control of IGF1 in all five cases where it was employed. X-LAG is a new infant-onset gigantism syndrome that has a severe clinical phenotype leading to challenging disease management. © 2015 Society for Endocrinology.

  2. Abnormal heart rate recovery and deficient chronotropic response after submaximal exercise in young Marfan syndrome patients.

    Science.gov (United States)

    Peres, Paulo; Carvalho, Antônio C; Perez, Ana Beatriz A; Medeiros, Wladimir M

    2016-10-01

    Marfan syndrome patients present important cardiac structural changes, ventricular dysfunction, and electrocardiographic changes. An abnormal heart rate response during or after exercise is an independent predictor of mortality and autonomic dysfunction. The aim of the present study was to compare heart rate recovery and chronotropic response obtained by cardiac reserve in patients with Marfan syndrome subjected to submaximal exercise. A total of 12 patients on β-blocker therapy and 13 off β-blocker therapy were compared with 12 healthy controls. They were subjected to submaximal exercise with lactate measurements. The heart rate recovery was obtained in the first minute of recovery and corrected for cardiac reserve and peak lactate concentration. Peak heart rate (141±16 versus 155±17 versus 174±8 bpm; p=0.001), heart rate reserve (58.7±9.4 versus 67.6±14.3 versus 82.6±4.8 bpm; p=0.001), heart rate recovery (22±6 versus 22±8 versus 34±9 bpm; p=0.001), and heart rate recovery/lactate (3±1 versus 3±1 versus 5±1 bpm/mmol/L; p=0.003) were different between Marfan groups and controls, respectively. All the patients with Marfan syndrome had heart rate recovery values below the mean observed in the control group. The absolute values of heart rate recovery were strongly correlated with the heart rate reserve (r=0.76; p=0.001). Marfan syndrome patients have reduced heart rate recovery and chronotropic deficit after submaximal exercise, and the chronotropic deficit is a strong determinant of heart rate recovery. These changes are suggestive of autonomic dysfunction.

  3. Heart rate variability and heart rate turbulence in patients with polycystic ovary syndrome.

    Science.gov (United States)

    Özkeçeci, Gülay; Ünlü, Bekir Serdar; Dursun, Hüseyin; Akçi, Önder; Köken, Gülengül; Onrat, Ersel; Avşar, Alaettin

    2016-05-01

    Cardiac autonomic dysfunction may develop in patients with polycystic ovary syndrome (PCOS). Heart rate variability (HRV) and heart rate turbulence (HRT) are used in assessing cardiac autonomic functions. The goal of this study was to compare the cardiac autonomic functions in patients with PCOS and healthy controls. To our knowledge, this is the first study evaluating cardiac autonomic functions in patients with PCOS with respect to both HRV and HRT. Twenty-three patients with PCOS (mean age 22.8±3.9 years) and 25 healthy female volunteers who were matched for age and body mass index (BMI) (mean age 23.5±6.2 years) were enrolled in this as case-control study. Twenty-four hour ambulatory electrocardiogram recordings of all participants were taken using Pathfinder software. The time domain parameters of HRV and HRT, including turbulence onset (TO) and turbulence slope, were calculated. Diagnosis of PCOS was made with physical and laboratory findings of hirsutism or biochemical hyperandrogenism and chronic anovulation. Diabetes mellitus, other hormon disorders or hormon therapy, pregnancy, atrial fibrilation, obesite, chronic diseases, disorders of the autonomic nervous system, a history of drug use affecting the autonomic nervous system were excluded. There were no significant differences in HRV and HRT parameters between the two groups. Cardiovascular risk factors, such as BMI, blood pressure, fasting blood glucose, and lipid parameters, were also similar. Triangular index measure of HRV was negatively correlated with high density lipoprotein cholesterol levels (r=-0.47, p<0.05), while age and BMI were significantly correlated with TO (r=0.31 and 0.47, respectively; p<0.05 for all). Cardiac autonomic functions were not found to be altered in patients with PCOS in comparison with healthy controls. These results may be explained with the absence of concomitant cardiovascular risk factors with the patients being in the early stage of the disease.

  4. A Giant Heart Tumor in Neonate with Clinical Signs of Pierre - Robin Syndrome

    OpenAIRE

    Bejiqi, Ramush; Retkoceri, Ragip; Xhema-Bejiqi, Hana; Bejiqi, Rinor; Maloku, Arlinda

    2017-01-01

    Introduction: Pierre Robin syndrome is a congenital condition of facial abnormalities in humans. The three main features are: cleft palate, retrognathia and glossoptosis. Rarely heart tumors are associated with syndromes, mostly are isolated. Case report: In this presentation we describe a 3-weeks-old girl with Pierre-Robin syndrome and giant left ventricle tumor, diagnosed initially by transthoracic echocardiography. The purpose of this report is to review the literature on the fetuses and n...

  5. Immunologic burden links periodontitis to acute coronary syndrome.

    Science.gov (United States)

    Liljestrand, John M; Paju, Susanna; Pietiäinen, Milla; Buhlin, Kåre; Persson, G Rutger; Nieminen, Markku S; Sinisalo, Juha; Mäntylä, Päivi; Pussinen, Pirkko J

    2018-01-01

    Periodontitis, a common polymicrobial inflammatory disease in the tooth supporting tissues, is a risk factor for coronary artery disease. One of the proposed underlying mechanisms is the systemic immune response to periodontal infection. We studied how serum antibodies against seven periodontal pathogens and their subgingival levels associate with each other, periodontitis, and coronary artery disease. The Parogene cohort included 505 Finnish patients (mean age 63 y) who underwent coronary angiography, and clinical and radiographic oral examinations. Coronary diagnosis was defined as no significant coronary artery disease (disease (≥50% stenosis, n = 184) and acute coronary syndrome (n = 169). Levels of subgingival Aggregatibacter actinomycetemcomitans, Porphyromonas gingivalis, Porphyromonas endodontalis, Prevotella intermedia, Tannerella forsythia, Campylobacter rectus, and Fusobacterium nucleatum were determined by checkerboard DNA-DNA hybridization. Serum antibody (IgA/IgG) levels were analyzed with enzyme-linked immunosorbent assay (ELISA). Aggregate IgA/IgG burdens were calculated by summing and standardizing the serum antibody levels. Patients with active periodontitis were characterized by higher levels of subgingival bacteria and corresponding IgA/IgG response. Quartiles 2-4 of serum IgA/IgG burden indicated higher risk for acute coronary syndrome (OR 1.84, 95%CI 1.01-3.35 for IgA; OR 1.87, 95%CI 1.01-3.46 for IgG) independently of established cardiovascular risk factors, body mass index, number of teeth, subgingival bacterial levels and periodontal diagnosis. Our findings support the hypothesis that the association between periodontitis and cardiovascular diseases is partly mediated by the immunologic response for periodontal pathogens. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. Soluble Flt-1 links microvascular disease with heart failure in CKD.

    Science.gov (United States)

    Di Marco, Giovana S; Kentrup, Dominik; Reuter, Stefan; Mayer, Anna B; Golle, Lina; Tiemann, Klaus; Fobker, Manfred; Engelbertz, Christiane; Breithardt, Günter; Brand, Eva; Reinecke, Holger; Pavenstädt, Hermann; Brand, Marcus

    2015-05-01

    Chronic kidney disease (CKD) is associated with an increased risk of heart failure (HF). Elevated plasma concentrations of soluble Flt-1 (sFlt-1) have been linked to cardiovascular disease in CKD patients, but whether sFlt-1 contributes to HF in CKD is still unknown. To provide evidence that concludes a pathophysiological role of sFlt-1 in CKD-associated HF, we measured plasma sFlt-1 concentrations in 586 patients with angiographically documented coronary artery disease and renal function classified according to estimated glomerular filtration rate (eGFR). sFlt-1 concentrations correlated negatively with eGFR and were associated with signs of heart failure, based on New York Heart Association functional class and reduced left ventricular ejection fraction (LVEF), and early mortality. Additionally, rats treated with recombinant sFlt-1 showed a 15 % reduction in LVEF and a 29 % reduction in cardiac output compared with control rats. High sFlt-1 concentrations were associated with a 15 % reduction in heart capillary density (number of vessels/cardiomyocyte) and a 24 % reduction in myocardial blood volume. Electron microscopy and histological analysis revealed mitochondrial damage and interstitial fibrosis in the hearts of sFlt-1-treated, but not control rats. In 5/6-nephrectomised rats, an animal model of CKD, sFlt-1 antagonism with recombinant VEGF121 preserved heart microvasculature and significantly improved heart function. Overall, these findings suggest that a component of cardiovascular risk in CKD patients could be directly attributed to sFlt-1. Assessment of patients with CKD confirmed that sFlt-1 concentrations were inversely correlated with renal function, while studies in rats suggested that sFlt-1 may link microvascular disease with HF in CKD.

  7. Predictors of incident heart failure in patients after an acute coronary syndrome: The LIPID heart failure risk-prediction model.

    Science.gov (United States)

    Driscoll, Andrea; Barnes, Elizabeth H; Blankenberg, Stefan; Colquhoun, David M; Hunt, David; Nestel, Paul J; Stewart, Ralph A; West, Malcolm J; White, Harvey D; Simes, John; Tonkin, Andrew

    2017-12-01

    Coronary heart disease is a major cause of heart failure. Availability of risk-prediction models that include both clinical parameters and biomarkers is limited. We aimed to develop such a model for prediction of incident heart failure. A multivariable risk-factor model was developed for prediction of first occurrence of heart failure death or hospitalization. A simplified risk score was derived that enabled subjects to be grouped into categories of 5-year risk varying from 20%. Among 7101 patients from the LIPID study (84% male), with median age 61years (interquartile range 55-67years), 558 (8%) died or were hospitalized because of heart failure. Older age, history of claudication or diabetes mellitus, body mass index>30kg/m 2 , LDL-cholesterol >2.5mmol/L, heart rate>70 beats/min, white blood cell count, and the nature of the qualifying acute coronary syndrome (myocardial infarction or unstable angina) were associated with an increase in heart failure events. Coronary revascularization was associated with a lower event rate. Incident heart failure increased with higher concentrations of B-type natriuretic peptide >50ng/L, cystatin C>0.93nmol/L, D-dimer >273nmol/L, high-sensitivity C-reactive protein >4.8nmol/L, and sensitive troponin I>0.018μg/L. Addition of biomarkers to the clinical risk model improved the model's C statistic from 0.73 to 0.77. The net reclassification improvement incorporating biomarkers into the clinical model using categories of 5-year risk was 23%. Adding a multibiomarker panel to conventional parameters markedly improved discrimination and risk classification for future heart failure events. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  8. Pulmonary Hypertension in Congenital Heart Disease: Beyond Eisenmenger Syndrome.

    Science.gov (United States)

    Krieger, Eric V; Leary, Peter J; Opotowsky, Alexander R

    2015-11-01

    Patients with adult congenital heart disease have an increased risk of developing pulmonary hypertension. There are several mechanisms of pulmonary hypertension in patients with adult congenital heart disease, and understanding them requires a systematic approach to define the patient's hemodynamics and physiology. This article reviews the updated classification of pulmonary hypertension in patients with adult congenital heart disease with a focus on pathophysiology, diagnostics, and the evaluation of pulmonary hypertension in special adult congenital heart disease populations. Copyright © 2015 Elsevier Inc. All rights reserved.

  9. Dynamics in prevalence of Down syndrome in children with congenital heart disease.

    Science.gov (United States)

    Pfitzer, Constanze; Helm, Paul C; Rosenthal, Lisa-Maria; Berger, Felix; Bauer, Ulrike M M; Schmitt, Katharina Rl

    2018-01-01

    We assessed the dynamics in the prevalence of children with congenital heart disease (CHD) and Down syndrome in Germany with regard to phenotype, severity, and gender. Data from patients with CHD and Down syndrome born between 1980 and 2014 were analyzed, who are registered with the German National Register for Congenital Heart Defects. One thousand six hundred eighteen CHD patients with Down syndrome were identified. The prevalence of children born with both Down syndrome and CHD was constant from 2005 to 2009 but increased from 2010 to 2014. Regarding CHD groups, complex and simple lesions have become more equal since 2005. The number of simple lesions with shunt has a peak prevalence in the period of 2010-2014. Atrioventricular septal defect was the most common CHD phenotype, but temporal changes were found within the group of CHD phenotypes over the observation period. Our findings suggest a growing number of CHD and Down syndrome, which may be the result of improved medical management and progress in educational, social, and financial support. This development is noteworthy as it adds new aspects to present discussions in the media and political settings. What is known: • Congenital heart disease is regarded to be the most important clinical phenomenon in children with Down syndrome, due to its significant impact on morbidity and mortality. • New developments in prenatal diagnostic and therapy management of congenital heart disease continue to influence the number of patients diagnosed with congenital heart disease and Down syndrome. What is New: • This study provides essential data giving the first overview of the dynamics in the prevalence of congenital heart disease and Down syndrome over an extended length of time up to 2015 in a large patient cohort, taking recent developments into account. • Our data suggest a growing prevalence of congenital heart disease and Down syndrome, which may be the result of improved medical management for Down syndrome

  10. Myocardial Infarction and Ischemic Heart Disease in Overweight and Obesity With and Without Metabolic Syndrome

    DEFF Research Database (Denmark)

    Thomsen, Mette; Nordestgaard, Børge G

    2014-01-01

    IMPORTANCE: Overweight and obesity likely cause myocardial infarction (MI) and ischemic heart disease (IHD); however, whether coexisting metabolic syndrome is a necessary condition is unknown. OBJECTIVE: To test the hypothesis that overweight and obesity with and without metabolic syndrome...... syndrome. MAIN OUTCOMES AND MEASURES: Hazard ratios for incident MI and IHD according to combinations of BMI category and absence or presence of metabolic syndrome. RESULTS: During a median of 3.6 years' follow-up, we recorded 634 incident MI and 1781 incident IHD events. For MI, multivariable adjusted...... hazard ratios vs normal weight individuals without metabolic syndrome were 1.26 (95% CI, 1.00-1.61) in overweight and 1.88 (95% CI, 1.34-2.63) in obese individuals without metabolic syndrome and 1.39 (95% CI, 0.96-2.02) in normal weight, 1.70 (95% CI, 1.35-2.15) in overweight, and 2.33 (95% CI, 1...

  11. Gender differences in the link between childhood socioeconomic conditions and heart attack risk in adulthood.

    Science.gov (United States)

    Hamil-Luker, Jenifer; O'Rand, Angela M

    2007-02-01

    A growing body of evidence shows that childhood socioeconomic status (SES) is predictive of disease risk in later life, with those from the most disadvantaged backgrounds more likely to experience poor adult-health outcomes. Most of these studies, however are based on middle-aged male populations and pay insufficient attention to the pathways between childhood risks and specific adult disorders. This article examines gender differences in the link between childhood SES and heart attack risk trajectories and the mechanisms by which early environments affect future disease risk. By using methods that model both latent and path-specific influences, we identify heterogeneity in early life conditions and human, social, and health capital in adulthood that contribute to diverse heart attack risk trajectories between and among men and women as they age into their 60s and 70s. We find that key risk factors for heart attack operate differently for men and women. For men, childhood SES does not differentiate those at low, increasing, and high risk for heart attack. In contrast, women who grew up without a father and/or under adverse economic conditions are the most likely to experience elevated risk for heart attack, even after we adjust for the unequal distribution of working and living conditions, social relationships, access to health care, and adult lifestyle behaviors that influence health outcomes.

  12. Heart rate variability in normal-weight patients with polycystic ovary syndrome

    OpenAIRE

    Kilit, Celal; Kilit, T?rkan Pa?al?

    2017-01-01

    Objective: Polycystic ovary syndrome (PCOS) is an endocrine disease closely related to several risk factors of cardiovascular disease. Obese women with PCOS show altered autonomic modulation. The results of studies investigating cardiac autonomic functions of normal-weight women with PCOS are conflicting. The aim of the study was to assess the reactivity of cardiac sympathovagal balance in normal-weight women with PCOS by heart rate variability analysis. Methods: We examined the heart rate va...

  13. Ambulatory Anesthesia in an Adult Patient with Corrected Hypoplastic Left Heart Syndrome

    Directory of Open Access Journals (Sweden)

    Jennifer Knautz

    2012-01-01

    congenital heart defects are surviving into adulthood and presenting for noncardiac surgeries. We describe one such example of a 26-year-old patient with corrected hypoplastic left heart syndrome presenting for knee arthroscopy and performed under general anesthesia with preoperative ultrasound guided saphenous nerve block. In this case, we review the anesthetic implications of corrected single ventricle physiology, anesthetic implications, as well as discuss the technique and role of saphenous nerve block in patients undergoing knee arthroscopy.

  14. Burden and impact of congenital syndromes and comorbidities among adults with congenital heart disease.

    Science.gov (United States)

    Bracher, Isabelle; Padrutt, Maria; Bonassin, Francesca; Santos Lopes, Bruno; Gruner, Christiane; Stämpfli, Simon F; Oxenius, Angela; De Pasquale, Gabriella; Seeliger, Theresa; Lüscher, Thomas F; Attenhofer Jost, Christine; Greutmann, Matthias

    2017-08-01

    Our aim was to assess the overall burden of congenital syndromes and non-cardiac comorbidities among adults with congenital heart disease and to assess their impact on circumstances of living and outcomes. Within a cohort of 1725 adults with congenital heart defects (65% defects of moderate or great complexity) followed at a single tertiary care center, congenital syndromes and comorbidities were identified by chart review. Their association with arrhythmias, circumstances of living and survival was analyzed. Within the study cohort, 232 patients (13%) had a genetic syndrome, 51% at least one comorbidity and 23% ≥2 comorbidities. Most prevalent comorbidities were systemic arterial hypertension (11%), thyroid dysfunction (9%), psychiatric disorders (9%), neurologic disorders (7%), chronic lung disease (7%), and previous stroke (6%). In contrast to higher congenital heart defect complexity, the presence of comorbidities had no impact on living circumstances but patients with comorbidities were less likely to work full-time. Atrial arrhythmias were more common among patients with moderate/great disease complexity and those with comorbidities but were less common among patients with congenital syndromes (pCongenital syndromes and comorbidities are highly prevalent in adults with congenital heart disease followed at specialist centers and add to the overall complexity of care. The presence of these additional factors has an impact on living circumstances, is associated with arrhythmias and needs to be further explored as prognostic markers. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. Congenital heart disease and genetic syndromes: new insights into molecular mechanisms.

    Science.gov (United States)

    Calcagni, Giulio; Unolt, Marta; Digilio, Maria Cristina; Baban, Anwar; Versacci, Paolo; Tartaglia, Marco; Baldini, Antonio; Marino, Bruno

    2017-09-01

    Advances in genetics allowed a better definition of the role of specific genetic background in the etiology of syndromic congenital heart defects (CHDs). The identification of a number of disease genes responsible for different syndromes have led to the identification of several transcriptional regulators and signaling transducers and modulators that are critical for heart morphogenesis. Understanding the genetic background of syndromic CHDs allowed a better characterization of the genetic basis of non-syndromic CHDs. In this sense, the well-known association of typical CHDs in Down syndrome, 22q11.2 microdeletion and Noonan syndrome represent paradigms as chromosomal aneuploidy, chromosomal microdeletion and intragenic mutation, respectively. Area covered: For each syndrome the anatomical features, distinctive cardiac phenotype and molecular mechanisms are discussed. Moreover, the authors include recent genetic findings that may shed light on some aspects of still unclear molecular mechanisms of these syndromes. Expert commentary: Further investigations are needed to enhance the translational approach in the field of genetics of CHDs. When there is a well-established definition of genotype-phenotype (reverse medicine) and genotype-prognosis (predictive and personalized medicine) correlations, hopefully preventive medicine will make its way in this field. Subsequently a reduction will be achieved in the morbidity and mortality of children with CHDs.

  16. Usher syndrome: molecular links of pathogenesis, proteins and pathways.

    NARCIS (Netherlands)

    Kremer, H.; Wijk, E. van; Marker, T.; Wolfrum, U.; Roepman, R.

    2006-01-01

    Usher syndrome is the most common form of deaf-blindness. The syndrome is both clinically and genetically heterogeneous, and to date, eight causative genes have been identified. The proteins encoded by these genes are part of a dynamic protein complex that is present in hair cells of the inner ear

  17. Copeptin in acute coronary syndromes and heart failure management: State of the art and future directions.

    Science.gov (United States)

    Schurtz, Guillaume; Lamblin, Nicolas; Bauters, Christophe; Goldstein, Patrick; Lemesle, Gilles

    2015-01-01

    Over the past two decades, the use of multiple biomarkers has changed cardiovascular disease management. Recently, several trials have assessed the diagnostic and prognostic performances of copeptin, especially in patients with heart failure or acute coronary syndromes. Primary results are interesting, with copeptin looking promising for: the management of patients who present at emergency departments early after chest pain onset and the risk stratification of patients with heart failure. The purpose of this article is to review the data on the place of copeptin in the management of patients with chest pain or heart failure. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  18. Early biomarkers of acute kidney failure after heart angiography or heart surgery in patients with acute coronary syndrome or acute heart failure.

    Science.gov (United States)

    Torregrosa, Isidro; Montoliu, Carmina; Urios, Amparo; Elmlili, Nisrin; Puchades, María Jesús; Solís, Miguel Angel; Sanjuán, Rafael; Blasco, Maria Luisa; Ramos, Carmen; Tomás, Patricia; Ribes, José; Carratalá, Arturo; Juan, Isabel; Miguel, Alfonso

    2012-01-01

    Acute kidney injury (AKI) is a common complication in cardiac surgery and coronary angiography, which worsens patients' prognosis. The diagnosis is based on the increase in serum creatinine, which is delayed. It is necessary to identify and validate new biomarkers that allow for early and effective interventions. To assess the sensitivity and specificity of neutrophil gelatinase-associated lipocalin in urine (uNGAL), interleukin-18 (IL-18) in urine and cystatin C in serum for the early detection of AKI in patients with acute coronary syndrome or heart failure, and who underwent cardiac surgery or catheterization. The study included 135 patients admitted to the intensive care unit for acute coronary syndrome or heart failure due to coronary or valvular pathology and who underwent coronary angiography or cardiac bypass surgery or valvular replacement. The biomarkers were determined 12 hours after surgery and serum creatinine was monitored during the next six days for the diagnosis of AKI. The area under the ROC curve (AUC) for NGAL was 0.983, and for cystatin C and IL-18 the AUCs were 0.869 and 0.727, respectively. At a cut-off of 31.9 ng/ml for uNGAL the sensitivity was 100% and the specificity was 91%. uNGAL is an early marker of AKI in patients with acute coronary syndrome or heart failure and undergoing cardiac surgery and coronary angiography, with a higher predictive value than cystatin C or IL-18.

  19. A Giant Heart Tumor in Neonate with Clinical Signs of Pierre - Robin Syndrome

    Science.gov (United States)

    Bejiqi, Ramush; Retkoceri, Ragip; Xhema-Bejiqi, Hana; Bejiqi, Rinor; Maloku, Arlinda

    2017-01-01

    Introduction: Pierre Robin syndrome is a congenital condition of facial abnormalities in humans. The three main features are: cleft palate, retrognathia and glossoptosis. Rarely heart tumors are associated with syndromes, mostly are isolated. Case report: In this presentation we describe a 3-weeks-old girl with Pierre-Robin syndrome and giant left ventricle tumor, diagnosed initially by transthoracic echocardiography. The purpose of this report is to review the literature on the fetuses and neonates with cardiac tumors in an attempt to determine the various ways which cardiac tumors differ clinically and morphologically in this age group. PMID:28790548

  20. Metabolic Syndrome and Short-Term Heart Rate Variability in Adults with Intellectual Disabilities

    Science.gov (United States)

    Chang, Yaw-Wen; Lin, Jin-Ding; Chen, Wei-Liang; Yen, Chia-Feng; Loh, Ching-Hui; Fang, Wen-Hui; Wu, Li-Wei

    2012-01-01

    Metabolic syndrome (MetS) increases the risk of cardiovascular events. Heart rate variability (HRV) represents autonomic functioning, and reduced HRV significantly increases cardiovascular mortality. The aims of the present paper are to assess the prevalence of MetS in adults with intellectual disabilities (ID), the difference in short-term HRV…

  1. Heart rate variability analysed by Poincaré plot in patients with metabolic syndrome

    Czech Academy of Sciences Publication Activity Database

    Kubíčková, A.; Kozumplík, J.; Nováková, Z.; Plachý, M.; Jurák, Pavel; Lipoldová, J.

    2016-01-01

    Roč. 49, č. 1 (2016), s. 23-28 ISSN 0022-0736 R&D Projects: GA ČR GAP102/12/2034 Institutional support: RVO:68081731 Keywords : heart rate variability * metabolic syndrome * Poincaré plot * tilt table test * controlled breathing Subject RIV: JA - Electronics ; Optoelectronics, Electrical Engineering Impact factor: 1.514, year: 2016

  2. HEART RATE VARIABILITY AND LIPID PROFILE IN NON OBESE YOUNG INDIAN WOMEN WITH POLYCYSTIC OVARY SYNDROME

    OpenAIRE

    Malathi; Balamurugan; Gomathi

    2015-01-01

    CONTEXT (BACKGROUND): Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathy of premenopausal women and is a most frequent cause of infertility. There are more stringent reports of cardiovascular events and infrequent investigations of lipid levels in lean PCOS. AIMS: To assess the cardiac autonomicity using Heart Rate Variabi...

  3. Linking behavioural syndromes and cognition: a behavioural ecology perspective.

    Science.gov (United States)

    Sih, Andrew; Del Giudice, Marco

    2012-10-05

    With the exception of a few model species, individual differences in cognition remain relatively unstudied in non-human animals. One intriguing possibility is that variation in cognition is functionally related to variation in personality. Here, we review some examples and present hypotheses on relationships between personality (or behavioural syndromes) and individual differences in cognitive style. Our hypotheses are based largely on a connection between fast-slow behavioural types (BTs; e.g. boldness, aggressiveness, exploration tendency) and cognitive speed-accuracy trade-offs. We also discuss connections between BTs, cognition and ecologically important aspects of decision-making, including sampling, impulsivity, risk sensitivity and choosiness. Finally, we introduce the notion of cognition syndromes, and apply ideas from theories on adaptive behavioural syndromes to generate predictions on cognition syndromes.

  4. Hereditary syndromes associated with the congenital heart diseases in Azerbaijan

    Directory of Open Access Journals (Sweden)

    N. A. Gadzhieva

    2018-01-01

    Full Text Available This article is devoted to the study of the incidence and structure of the genetic syndromes associated with congenital heart diseases in Azerbaijan. The results of observation of 430 children with congenital heart diseases, which have been stayed in the Child Department of Scientific Surgery Center named after Academician M.A. Topchubashov during 2010-2015 period, have been analyzed. It was demonstrated that the incidence of the chromosomal and monogenic pathological conditions is 6.5±1.2% (28 children among the above population. The chromosomal syndromes were diagnosed in 20 (4.7±1.0% children, monogenic ones – in 8 (1.9+0.7% children. The chromosomal pathological condition was mostly presented with the Down’s syndrome (in 12 patents. As to the monogenic syndromes, it was mostly the heterotoxic syndrome (4 children. These data testify that in spite of the multifactorial genesis of the most of the congenital heart diseases and role of the unfavorable factors of the antenatal period, the genetic component influences with a great importance upon the prevalence rate of the malformations. 

  5. Successful Venous Angioplasty of Superior Vena Cava Syndrome after Heart Transplantation

    Directory of Open Access Journals (Sweden)

    Thomas Strecker

    2014-01-01

    Full Text Available Introduction. For patients with terminal heart failure, heart transplantation (HTX has become an established therapy. Before transplantation there are many repeated measurements with a pulmonary artery catheter (PAC via the superior vena cava (SVC necessary. After transplantation, endomyocardial biopsy (EMB is recommended for routine surveillance of heart transplant rejection again through the SVC. Case Presentation. In this report, we present a HTX patient who developed a SVC syndrome as a possible complication of all these procedures via the SVC. This 35-year-old Caucasian male could be successfully treated by balloon dilatation/angioplasty. Conclusion. The SVC syndrome can lead to pressure increase in the venous system such as edema in the head and the upper part of the body and further serious complications like cerebral bleeding and ischemia, or respiratory problems. Balloon angioplasty and stent implantation are valid methods to treat stenoses of the SVC successfully.

  6. Circulating angiopoietin-like 4 links proteinuria with hypertriglyceridemia in nephrotic syndrome

    NARCIS (Netherlands)

    Clement, L.C.; Mace, C.; Avila-Casado, C.; Joles, J.A.; Kersten, A.H.; Chugh, S.S.

    2014-01-01

    The molecular link between proteinuria and hyperlipidemia in nephrotic syndrome is not known. We show in the present study that plasma angiopoietin-like 4 (Angptl4) links proteinuria with hypertriglyceridemia through two negative feedback loops. In previous studies in a rat model that mimics human

  7. Syndromic Hirschsprung's disease and associated congenital heart disease: a systematic review.

    Science.gov (United States)

    Duess, Johannes W; Puri, Prem

    2015-08-01

    Hirschsprung's disease (HD) occurs as an isolated phenotype in 70% of infants and is associated with additional congenital anomalies or syndromes in approximately 30% of patients. The cardiac development depends on neural crest cell proliferation and is closely related to the formation of the enteric nervous system. HD associated with congenital heart disease (CHD) has been reported in 5-8% of cases, with septation defects being the most frequently recorded abnormalities. However, the prevalence of HD associated with CHD in infants with syndromic disorders is not well documented. This systematic review was designed to determine the prevalence of CHD in syndromic HD. A systematic review of the literature using the keywords "Hirschsprung's disease", "aganglionosis", "congenital megacolon", "congenital heart disease" and "congenital heart defect" was performed. Resulting publications were reviewed for epidemiology and morbidity. Reference lists were screened for additional relevant studies. A total of fifty-two publications from 1963 to 2014 reported data on infants with HD associated with CHD. The overall reported prevalence of HD associated with CHD in infants without chromosomal disorders was 3%. In infants with syndromic disorders, the overall prevalence of HD associated with CHD ranged from 20 to 80 % (overall prevalence 51%). Septation defects were recorded in 57% (atrial septal defects in 29%, ventricular septal defects in 32%), a patent ductus arteriosus in 39%, vascular abnormalities in 16%, valvular heart defects in 4% and Tetralogy of Fallot in 7%. The prevalence of HD associated with CHD is much higher in infants with chromosomal disorders compared to infants without associated syndromes. A routine echocardiogram should be performed in all infants with syndromic HD to exclude cardiac abnormalities.

  8. Linked analysis for definition of nurse advice line syndrome groups, and comparison to encounters.

    Science.gov (United States)

    Magruder, Steven F; Henry, J; Snyde, M

    2005-08-26

    Nurse advice call centers are a potentially important source of data for syndromic surveillance purposes. For this reason, researchers at Johns Hopkins University Applied Physics Laboratory and Kaiser Permanente of the Mid-Atlantic States (KPMAS) have been collaborating to develop methods to use this data within the ESSENCE II Syndromic Surveillance System in the National Capital Region. The objective of this report is to present a general method for finding syndrome groups in data sources that can be linked to physician encounters and to determine effective advice call syndrome groups for use with KPMAS advice data. Advice calls are linked to physician encounters and stratified by patient age. They are placed in groups according to a maximum positive predictive value criterion. The groups are evaluated by correlating the resulting syndrome time series against physician encounter data. Potentially useful advice syndrome groups are found for respiratory, lower gastrointestinal (GI), and total GI syndromes for each age stratum. The time series of the advice data for respiratory, lower GI, and upper GI syndromes accurately predict the physician encounter time series for the corresponding syndromes for each age stratum.

  9. The heartstrings mutation in zebrafish causes heart/fin Tbx5 deficiency syndrome.

    Science.gov (United States)

    Garrity, Deborah M; Childs, Sarah; Fishman, Mark C

    2002-10-01

    Holt-Oram syndrome is one of the autosomal dominant human "heart-hand" disorders, with a combination of upper limb malformations and cardiac defects. Holt-Oram syndrome is caused by mutations in the TBX5 gene, a member of a large family of T-box transcription factors that play important roles in cell-type specification and morphogenesis. In a screen for mutations affecting zebrafish cardiac function, we isolated the recessive lethal mutant heartstrings, which lacks pectoral fins and exhibits severe cardiac dysfunction, beginning with a slow heart rate and progressing to a stretched, non-functional heart. We mapped and cloned the heartstrings mutation and find it to encode the zebrafish ortholog of the TBX5 gene. The heartstrings mutation causes premature termination at amino acid 316. Homozygous mutant embryos never develop pectoral fin buds and do not express several markers of early fin differentiation. The total absence of any fin bud differentiation distinguishes heartstrings from most other mutations that affect zebrafish fin development, suggesting that Tbx5 functions very early in the pectoral fin induction pathway. Moderate reduction of Tbx5 by morpholino causes fin malformations, revealing an additional early requirement for Tbx5 in coordinating the axes of fin outgrowth. The heart of heartstrings mutant embryos appears to form and function normally through the early heart tube stage, manifesting only a slight bradycardia compared with wild-type siblings. However, the heart fails to loop and then progressively deteriorates, a process affecting the ventricle as well as the atrium. Relative to mammals, fish require lower levels of Tbx5 to produce malformed appendages and display whole-heart rather than atrial-predominant cardiac defects. However, the syndromic deficiencies of tbx5 mutation are remarkably well retained between fish and mammals.

  10. Guillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy

    Directory of Open Access Journals (Sweden)

    Ron Jacob MD

    2015-10-01

    Full Text Available X-Linked adrenoleukodystrophy is the most common peroxisomal disorder with different phenotypes among patients carrying the same ABCD1 mutation. There were previously reported associations of X-linked adrenoleukodystrophy with autoimmune disorders. The authors describe Guillain Barré syndrome in a child with X-linked adrenoleukodystrophy. The available evidence does not permit conclusion concerning etiological linkage between the 2 diseases, but it warrants further study.

  11. Overlapping humoral autoimmunity links rheumatic fever and the antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Blank, M; Krause, I; Magrini, L

    2006-01-01

    Rheumatic fever (RF) and the antiphospholipid syndrome (APS) are autoimmune diseases that share similar cardiac and neurological pathologies. We assessed the presence of shared epitopes between M protein, N-acetyl-beta-D-glucosamine (GlcNAc) and beta2 glycoprotein-I (beta2GPI), the pathogenic...

  12. Could occupational physical activity mitigate the link between moderate kidney dysfunction and coronary heart disease?

    Science.gov (United States)

    Esquirol, Yolande; Tully, Mark; Ruidavets, Jean-Bernard; Fogarty, Damian; Ferrieres, Jean; Quinn, Michael; Hughes, Maria; Kee, Frank

    2014-12-20

    Chronic kidney disease is now regarded as a risk factor for cardiovascular disease. The impact of occupational or non-occupational physical activity (PA) on moderate decreases of renal function is uncertain. We aimed to identify the potential association of PA (occupational and leisure-time) on early decline of estimated glomerular filtration rate (eGFR) and to determine the potential mediating effect of PA on the relationship between eGFR and heart disease. From the PRIME study analyses were conducted in 1058 employed men. Energy expended during leisure, work and commuting was calculated. Linear regression analyses were used to determine the link between types of PA and moderate decrements of eGFR determined with the KDIGO guideline at the baseline assessment. Cox proportional hazards analyses were used to explore the potential effect of PA on the relationship between eGFR and heart disease, ascertained during follow-up over 10 years. For these employed men, and after adjustment for known confounders of GFR change, more time spent sitting at work was associated with increased risk of moderate decline in kidney function, while carrying objects or being active at work was associated with decreased risk. In contrast, no significant link with leisure PA was apparent. No potential mediating effect of occupational PA was found for the relationship between eGFR and coronary heart disease. Occupational PA (potential modifiable factors) could provide a dual role on early impairment of renal function, without influence on the relationship between early decrease of e-GFR and CHD risk. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  13. Carcinoid Syndrome and Carcinoid Heart Disease as Manifestations of Non-Metastatic Ovarian Neuroendocrine Tumour

    Directory of Open Access Journals (Sweden)

    Joana Simões-Pereira

    2017-05-01

    Full Text Available The carcinoid syndrome is rare but it is associated with carcinoid heart disease in more than a half of the cases. Carcinoid heart disease is typically characterised by morphological and functional modifications of right-sided valves. Its aetiology is probable multifactorial but serotonin appears to play a key role in the development of this valvular disease. Unlike gastrointestinal neuroendocrine tumours, ovarian neuroendocrine tumours can present with carcinoid syndrome and carcinoid heart disease in the absence of liver metastases; such ovarian neuroendocrine tumours are a unique clinical entity. The additional burden of cardiac impairment in these patients represents a significant reduction in survival. Early recognition and surgical valve replacement before advanced heart failure is established may improve the clinical outcome. We report the case of a woman with an ovarian neuroendocrine tumour and highly symptomatic carcinoid heart disease who was submitted to tumour resection followed by valvuloplasty. She demonstrated an outstanding clinical improvement and has remained free of tumour and symptomatology.

  14. Changes of Heart Structure and Function in Terms of Insulin Resistance at Thyrotoxicosis Syndrome

    Directory of Open Access Journals (Sweden)

    T.Yu. Yuzvenko

    2014-08-01

    Full Text Available The article presents the findings of the study on the effect of increased thyroid function on the background of insulin resistance on the performance of the structure and function of the heart. It has been found that in increased thyroid function, main nosological form of myocardial damage in patients without concomitant cardiovascular disease is the development of metabolic endocrine cardiomyopathy. Feature of heart disorder in thyrotoxicosis syndrome is an absence of cardosclerotic, myocarditic and ischemic processes. Features of clinical, instrumental and laboratory changes in patients with elevated thyroid function are subjective manifestation, trend towards the development of systolic hypertension, expressed hypolipidemia, tendency to hyperglycemia. Manifestations of electrical dysfunction of the myocardium in hyperthyroidism are increased heart rate, expressed trend towards increase of arrhythmogenesis (mainly ventricular type, disturbance of ventricular repolarization and the prevalence of electrical inhomogeneity of the myocardium of both atria and ventricles. Morphofunctional changes of the heart in thyrotoxicosis syndrome manifest by increase in the size of its cavities, left ventricular mass, rapid relaxation of the latter. Heart disease in thyrotoxicosis is characterized by an increase in the duration and dispersion of QTc interval, which indicates a violation of myocardial repolarization, and increase in its electrical inhomogeneity, which can be a predictor of the risk of ventricular arrhythmias. Changes in cardiac function at thyrotoxicosis in male patients are characterized by greater severity of electrophysiological and morphofunctional changes in the myocardium compared to female patients.

  15. During childhood unrecognized congenital heart defect in patient with Turner syndrome, and its implications

    International Nuclear Information System (INIS)

    Klaskova, E.; Kapralova, S.; Zapletalova, J.; Tuedoes, Z.

    2015-01-01

    Congenital heart disease affects approximately 50 % of individuals with Turner syndrome (TS). Bicuspid aortic valve, aortic coarctation, ascending aorta dilatation and arterial hypertension are important risk factors for life-threatening aortic dissection or rupture. Authors discuss the importance of a careful cardiac examination including cardiac magnetic resonance imaging study and life-long follow-up by experienced cardiologist in TS patients, and point out high maternal mortality and morbidity during pregnancy. They present a case report of woman with TS and the above-mentioned in childhood unrecognized congenital heart defects that underwent infertility treatment without pre conceptional counselling focused on cardiovascular risk for aortic dissection. (author)

  16. Chronic Heart Failure and Comorbid Renal Dysfunction - A Focus on Type 2 Cardiorenal Syndrome

    Science.gov (United States)

    Preeti, Jois; Alexandre, Mebazaa; Pupalan, Iyngkaran; Merlin, Thomas C.; Claudio, Ronco

    2016-01-01

    The most important advancements in the Cardiorenal syndrome (CRS) are its definition and subsequent classifications. When the predominant pathology and pathophysiology is the heart, i.e. chronic heart failure (CHF), and where any renal impairment (RI) subsequent to this is secondary, the classification is type 2 CRS. There are unique differences in the pathophysiology and progression of individual subclasses. It is important to understand the evolution of CHF and consequences of subsequent RI as they are becoming increasingly prevalent, aggravate morbidity and mortality and limit many therapeutic options. In this paper we discuss the significance of the type 2 CRS patients in the context of the thematic series. PMID:27280302

  17. Distinct gene expression profiles in ovarian cancer linked to Lynch syndrome

    DEFF Research Database (Denmark)

    Jönsson, Jenny-Maria; Bartuma, Katarina; Dominguez-Valentin, Mev

    2014-01-01

    Ovarian cancer linked to Lynch syndrome represents a rare subset that typically presents at young age as early-stage tumors with an overrepresentation of endometrioid and clear cell histologies. We investigated the molecular profiles of Lynch syndrome-associated and sporadic ovarian cancer...... with the aim to identify key discriminators and central tumorigenic mechanisms in hereditary ovarian cancer. Global gene expression profiling using whole-genome c-DNA-mediated Annealing, Selection, extension, and Ligation was applied to 48 histopathologically matched Lynch syndrome-associated and sporadic...... ovarian cancers. Lynch syndrome-associated and sporadic ovarian cancers differed by 349 significantly deregulated genes, including PTPRH, BIRC3, SHH and TNFRSF6B. The genes involved were predominantly linked to cell growth, proliferation, and cell-to-cell signaling and interaction. When stratified...

  18. Chronic periaortitis and antiphospholipid syndrome: is there a link?

    Directory of Open Access Journals (Sweden)

    Liliana Carneiro

    2016-06-01

    Full Text Available Chronic periaortitis (CP is a rare fibro-inflammatory disease characterized by periaortic fibrosis and/or aortic aneurysms formation, mostly localized in retroperitoneum and occasionally in the mediastinum. Recent studies have shown its common association with autoimmune diseases, therefore autoimmunity has been proposed as a contributing factor. Herein, we describe the second case in the literature of CP associated with antiphospholipid syndrome. A 64-year-old man with history of open surgery for inflammatory thoracic aneurysm and recurrent deep vein thrombosis was referred for abdominal pain and weight loss in the last 6 months. Further investigation revealed elevated acute-phase reactant levels, positive antiphospholipid autoantibodies, radiological and histological evidence of periaortic fibrosis and inflammation causing abdominal aneurysm and ureteral obstruction. Diagnosis of CP and antiphospholipid syndrome were made and steroid therapy was implemented with clinical and radiological improvement. The present report further supports the potentially immune-mediated origin of CP, highlighting its possible linkage with antiphospholipid syndrome.

  19. Lifestyle changes and prevention of metabolic syndrome in the Heart of New Ulm Project

    Directory of Open Access Journals (Sweden)

    Jeffrey J. VanWormer

    2017-06-01

    Full Text Available Prior research has shown that unhealthy lifestyles increase the risk for developing a number of chronic diseases, but there are few studies examining how lifestyle changes impact metabolic syndrome. This study analyzed the association between two-year changes in key lifestyle risk metrics and incident metabolic syndrome in adults. A retrospective cohort study was conducted using data from metabolic syndrome free adults in the Heart of New Ulm Project (New Ulm, MN. The outcome was incident metabolic syndrome observed two years after baseline in 2009. The primary predictor was change in optimal lifestyle score based on four behavioral risk factors, including smoking, alcohol use, fruit/vegetable consumption, and physical activity. In the analytical sample of 1059 adults, 12% developed metabolic syndrome by 2011. Multivariable regression models (adjusted for baseline lifestyle score, age, sex, education, cardiovascular disease, and diabetes revealed that a two-year decrease in optimal lifestyle score was associated with significantly greater odds of incident metabolic syndrome (OR = 2.92; 95% CI: 1.69, 5.04; p < 0.001. This association was primarily driven by changes in obesity, fruit/vegetable consumption, and alcohol intake. As compared to improving poor lifestyle habits, maintaining a healthy lifestyle seemed to be most helpful in avoiding metabolic syndrome over the two-year study timeframe.

  20. Editorial: X-chromosome-linked Kallmann's syndrome: Pathology at the molecular level

    Energy Technology Data Exchange (ETDEWEB)

    Prager, D.; Braunstein, G.D. (Cedars-Sinai Medical Center, Los Angeles, CA (United States))

    1993-04-01

    Kallmann's syndrome or olfactogenital dysplasia refers to a disorder characterized by hypogonadotropic hypogonadism and anosmia or hyposmia which can occur sporadically or in a familial setting. Originally described in 1856, the first familial cases were reported by Kallmann et al., in 1944. Based on segregation analysis of multiple families, three modes of transmission have been documented: X-linked, autosomal dominant with variable penetrance, and autosomal recessive. Kallmann's syndrome occurs in less than 1 in 10,000 male births, with a 5-fold excess of affected males to females, suggesting that the X-linked form is the most frequent. By genetic linkage analysis the X-linked form of Kallmann's syndrome was localized to Xp22.3. This was confirmed by the description of patients with contiguous gene syndromes due to deletions of various portions of the distal short arm of the X-chromosome. Such patients present with complex phenotypes characterized by a combination of Kallmann's syndrome with X-linked icthyosis due to steroid sulfatase deficiency, chondrodysplasia punctata, short stature, and mental retardation. DNA analysis has identified and mapped the genes responsible for these disorders. 10 refs., 1 fig., 1 tab.

  1. PPARs Link Early Life Nutritional Insults to Later Programmed Hypertension and Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    You-Lin Tain

    2015-12-01

    Full Text Available Hypertension is an important component of metabolic syndrome. Adulthood hypertension and metabolic syndrome can be programmed in response to nutritional insults in early life. Peroxisome proliferator-activated receptors (PPARs serve as a nutrient-sensing signaling linking nutritional programming to hypertension and metabolic syndrome. All three members of PPARs, PPARα, PPARβ/δ, and PPARγ, are expressed in the kidney and involved in blood pressure control. This review provides an overview of potential clinical applications of targeting on the PPARs in the kidney to prevent programmed hypertension and metabolic syndrome, with an emphasis on the following areas: mechanistic insights to interpret programmed hypertension; the link between the PPARs, nutritional insults, and programmed hypertension and metabolic syndrome; the impact of PPAR signaling pathway in a maternal high-fructose model; and current experimental studies on early intervention by PPAR modulators to prevent programmed hypertension and metabolic syndrome. Animal studies employing a reprogramming strategy via targeting PPARs to prevent hypertension have demonstrated interesting results. It is critical that the observed effects on developmental reprogramming in animal models are replicated in human studies, to halt the globally-growing epidemic of metabolic syndrome-related diseases.

  2. Heart rate variability in infants with West syndrome

    DEFF Research Database (Denmark)

    Møller, Michelle Mai; Høgenhaven, Hans; Uldall, Peter

    2015-01-01

    -Whitney's U-Test) in the awake state, indicating an abnormal autonomic output to the heart. Comparing the initial to the final examination demonstrated a significant increase in the HRV parameters SDNN (31.3ms) and total power (757ms(2); p=0.001 and p=0.013, Wilcoxon Signed Ranked Test). In addition......, when hypsarrhythmia was no longer present. RESULTS: Compared to controls, patients with WS during hypsarrhythmia had significantly lower SDNN (the standard deviation of the NN interval, i.e. the square root of variance) (19.2ms; p=0.007, Mann-Whitney's U-Test) and total power (242ms(2); p=0.044, Mann...

  3. Heart rate variability analysis in postural orthostatic tachycardia syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Raffaele Calabrò

    2006-09-01

    Full Text Available The authors present a case of 36 year old male patient with idiopathic postural orthostatic tachycardia syndrome (POTS diagnosed during head-up tilt testing. Power spectral analysis of heart rate variability (HRV during the tilt test revealed that the ratio of low and high frequency powers (LF/HF increased with the onset of orthostatic intolerance. This analysis confirmed in our patient a strong activation in sympathetic tone.

  4. Hypoplastic left heart syndrome and pulmonary veno-occlusive disease in an infant.

    Science.gov (United States)

    D'Souza, Marise; Vergales, Jeffrey; Jayakumar, K Anitha

    2013-01-01

    This report describes an infant with heterotaxy syndrome and severe hypoplasia of the left heart who presented with profound cyanosis at birth despite a large patent ductus arteriosus. Pulmonary venous return was difficult to demonstrate by echocardiography. Angiography showed total anomalous pulmonary venous return via a plexus that drained through the paravertebral veins and bilateral superior vena cavae. Autopsy confirmed these findings, and histopathology demonstrated severe occlusive changes within the pulmonary veins.

  5. An unusual type of congenital heart disease associated with the Holt-Oram-Syndrome

    International Nuclear Information System (INIS)

    Ruzic, B.; Bosnar, B.; Beleznay, O.

    1981-01-01

    Case report of a very rare case of Holt-Oram-Syndrome (in a seven months old baby) associated with tricuspid atresia (itself a rare condition of isolated congenital heart desease) and anomalous return of pulmonary vein into the right atrium. According to the classification based on anatomy, our case corresponds to type Ia. The diagnosis was confirmed clinically, electrocardiographically, radiologically and angiographically. (orig.) [de

  6. Heart transplantation in patients with eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome).

    Science.gov (United States)

    Groh, Matthieu; Masciocco, Gabriella; Kirchner, Elizabeth; Kristen, Arnt; Pellegrini, Carlo; Varnous, Shaïda; Bortman, Guillermo; Rosenberg, Mark; Brucato, Antonio; Waterworth, Paul; Bonacina, Edgardo; Facchetti, Fabio; Calabrese, Leonard; Gregorini, Gina; Scali, Juan Jose; Starling, Randall; Frigerio, Maria; D'Armini, Andrea Maria; Guillevin, Loïc

    2014-08-01

    Heart involvement is the leading cause of death of patients with eosinophilic granulomatosis with polyangiitis (EGPA; formerly Churg-Strauss syndrome) and is more frequent in anti-neutrophil cytoplasm antibody (ANCA)-negative patients. Post-transplant outcome has only been reported once. We conducted a retrospective international multicenter study. Patients satisfying the criteria of the American College of Rheumatology and/or revised Chapel Hill Consensus Conference Nomenclature were identified by collaborating vasculitis and transplant specialists, and the help of the Churg-Strauss Syndrome Association. Nine ANCA(-) patients who received transplants between October 1987 and December 2009 were identified. The vasculitis and cardiomyopathy diagnoses were concomitant for 5 patients and separated by 12 to 288 months for the remaining 4 patients. Despite ongoing immunosuppression, histologic examination of 7 (78%) patients' explanted hearts showed histologic patterns suggestive of active vasculitis. The overall 5-year survival rate was low (57%), but rose to 80% when considering only the 6 patients transplanted during the last decade. After survival lasting 3 to 60 months, 4 (44%) patients died sudden deaths. The search for EGPA-related cardiomyopathy is mandatory early in the course of this type of vasculitis. Indeed, prompt treatment with corticosteroids and cyclophosphamide may achieve restore cardiac function. Most patients in this series were undertreated. For patients with refractory EGPA, heart transplantation should be performed, which carries a fair prognosis. No optimal immunosuppressive strategy has yet been identified. Copyright © 2014 International Society for Heart and Lung Transplantation. All rights reserved.

  7. A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease

    DEFF Research Database (Denmark)

    Holst, Anders G; Calloe, Kirstine; Jespersen, Thomas

    2009-01-01

    Brugada syndrome (BrS) is a primary electrical heart disease, which can lead to sudden cardiac death. In older patients with BrS, the disease may coexist with ischaemic heart disease (IHD) and recent studies support a synergistic proarrhythmic effect of the two disease entities. We report a case...

  8. [Tapia's syndrome following transesophageal echocardiography during an open-heart operation: a case report].

    Science.gov (United States)

    Fujiwara, Satoru; Yoshimura, Hajime; Nishiya, Kenta; Oshima, Keiichi; Kawamoto, Michi; Kohara, Nobuo

    2017-12-27

    A 67-year-old man presented with hoarseness, dysarthria and deviation of the tongue to the left side the day after the open-heart operation under general anesthesia. Brain MRI demonstrated no causal lesion, and laryngoscope showed left vocal cord abductor palsy, so we diagnosed him with Tapia's syndrome (i.e., concomitant paralysis of the left recurrent and hypoglossal nerve). His neurological symptoms recovered gradually and improved completely four months after the onset. Tapia's syndrome is a rare condition caused by the extra cranial lesion of the recurrent laryngeal branch of the vagus nerve and the hypoglossal nerve, and mostly described as a complication of tracheal intubation. In this case, transesophageal echo probe has been held in the left side of the pharynx, so compression to the posterior wall of pharynx by the probe resulted in this condition, and to the best of our knowledge, this is the first report of Tapia's syndrome due to transesophageal echocardiography during an open-heart operation. This rare syndrome should be considered as a differential diagnosis of dysarthria and tongue deviation after a procedure associated with compression to the pharynx.

  9. [Case of neuroleptic malignant syndrome following open heart surgery for thoracic aortic aneurysm with parkinson's disease].

    Science.gov (United States)

    Shinoda, Maiko; Sakamoto, Mik; Shindo, Yuki; Ando, Yumi; Tateda, Takeshi

    2013-12-01

    An 80-year-old woman with Parkinson's disease was scheduled for open heart surgery to repair thoracic aortic aneurysm. Parkinson's symptoms were normally treated using oral levodopa (200 mg), selegiline-hydrochloride (5 mg), bromocriptine-mesilate (2 mg), and amantadine-hydrochloride (200 mg) daily. On the day before surgery, levodopa 50mg was infused intravenously. Another 25 mg of levodopa was infused immediately after surgery. Twenty hours later, the patient developed tremors, heyperventilation, but no obvious muscle rigidity. Two days after surgery, the patient exhibited high fever, hydropoiesis, elevated creatine kinase, and a rise in blood leukocytes. She was diagnosed with neuroleptic malignant syndrome. She was intubated, and received dantrolene sodium. Symptoms of neuroleptic malignant syndrome disappeared on the fourth postoperative day. The stress of open heart surgery, specifically extracorporeal circulation and concomitant dilution of levodopa, triggered neuroleptic malignant syndrome in this patient. Parkinson's patients require higher doses of levodopa prior to surgery to compensate and prevent neuroleptic malignant syndrome after surgery.

  10. In-hospital management and outcomes of acute coronary syndromes in relation to prior history of heart failure.

    Science.gov (United States)

    Zhang, Hanfei; Goodman, Shaun G; Yan, Raymond T; Steg, Ph Gabriel; Kornder, Jan M; Gyenes, Gabor T; Grondin, Francois R; Brieger, David; DeYoung, J Paul; Gallo, Richard; Yan, Andrew T

    2016-06-01

    The prognostic significance of prior heart failure in acute coronary syndromes has not been well studied. Accordingly, we evaluated the baseline characteristics, management patterns and clinical outcomes in patients with acute coronary syndromes who had prior heart failure. The study population consisted of acute coronary syndrome patients in the Global Registry of Acute Coronary Events, expanded Global Registry of Acute Coronary Events and Canadian Registry of Acute Coronary Events between 1999 and 2008. Of the 13,937 eligible patients (mean age 66±13 years, 33% female and 28.3% with ST-elevation myocardial infarction), 1498 (10.7%) patients had a history of heart failure. Those with prior heart failure tended to be older, female and had lower systolic blood pressure, higher Killip class and creatinine on presentation. Prior heart failure was also associated with significantly worse left ventricular systolic function and lower rates of cardiac catheterization and coronary revascularization. The group with previous heart failure had significantly higher rates of acute decompensated heart failure, cardiogenic shock, myocardial (re)infarction and mortality in hospital. In multivariable analysis, prior heart failure remained an independent predictor of in-hospital mortality (odds ratio 1.48, 95% confidence interval 1.08-2.03, p=0.015). Prior heart failure was associated with high risk features on presentation and adverse outcomes including higher adjusted in-hospital mortality in acute coronary syndrome patients. However, acute coronary syndrome patients with prior heart failure were less likely to receive evidence-based therapies, suggesting potential opportunities to target more intensive treatment to improve their outcome. © The European Society of Cardiology 2015.

  11. Non-syndromic posterior lenticonus a cause of childhood cataract: evidence for X-linked inheritance.

    Science.gov (United States)

    Russell-Eggitt, I M

    2000-12-01

    When an X-linked pedigree of posterior lenticonus with cataract was identified further evidence for X-linked inheritance of this condition was sought. Forty-three cases of posterior lenticonus were identified from a database of 354 children with cataract. Two children with the X-linked syndromes of Lowe and Nance-Horan and 3 children with Fanconi syndrome have been excluded from further analysis. None of the children was deaf. None of the non-syndromic cases had microcornea. There were 38 cases of non-syndromic posterior lenticonus (approximately 11%). There were 15 children from 13 pedigrees and 23 apparently sporadic cases. Of the 106 cases on the database with unilateral cataract 15 had posterior lenticonus (approximately 14%). Eleven of 13 pedigrees were compatible with X-linked inheritance or autosomal dominant inheritance with variable expression. However, in 2 pedigrees there was father to son transmission. Posterior lenticonus is a common cause of unilateral infantile cataract, but is thought to be a rare cause of bilateral cataracts. This study suggests that posterior lenticonus is responsible for a significant proportion of childhood cataracts (approximately 14% of unilateral and approximately 9% of bilateral cases). Posterior lenticonus is generally thought to occur as a sporadic condition. This study demonstrates that there is a family history of early-onset cataract in a significant number of bilateral cases (approximately 58%).

  12. Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects

    NARCIS (Netherlands)

    A.F. Daly (Adrian); B. Yuan (Bo); Fina, F. (Frederic); J.-H. Caberg (Jean-Hubert); G. Trivellin (Giampaolo); L. Rostomyan (Liliya); W.W. de Herder (Wouter); L.A. Naves (Lucianna); D. Metzger (Daniel); T. Cuny (Thomas); Rabl, W. (Wolfgang); N.S. Shah (Nalini Samir); M-L. Jaffrain-Rea (Marie-Lise); Chiara Zatelli, M. (Maria); F.R. Faucz (Fabio R.); E. Castermans (Emilie); Nanni-Metellus, I. (Isabelle); Lodish, M. (Maya); A. Muhammad (Ammar); Palmeira, L. (Leonor); Potorac, I. (Iulia); G. Mantovani (Giovanna); S.J.C.M.M. Neggers (Bas); Klein, M. (Marc); A. Barlier (Anne); P. Liu (Pengfei); Ouafik, L. (L'houcine); V. Bours (Vincent); Lupski, J.R. (James R.); C.A. Stratakis (Constantine); A. Beckers (Albert)

    2016-01-01

    textabstractSomatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG)syndrome is a recently characterized genomic form of pediatric gigantism due to aggressive pituitary tumors that is caused by submicroscopic

  13. Physiological Arousal in Autism and Fragile X Syndrome: Group Comparisons and Links with Pragmatic Language

    Science.gov (United States)

    Klusek, Jessica; Martin, Gary E.; Losh, Molly

    2013-01-01

    This study tested the hypothesis that pragmatic (i.e., social) language impairment is linked to arousal dysregulation in autism spectrum disorder (ASD) and fragile X syndrome (FXS). Forty boys with ASD, 39 with FXS, and 27 with typical development (TD), aged 4-15 years, participated. Boys with FXS were hyperaroused compared to boys with TD but did…

  14. Coronary heart disease is not significantly linked to acute kidney injury identified using Acute Kidney Injury Group criteria.

    Science.gov (United States)

    Yayan, Josef

    2012-01-01

    Patients with unstable angina or myocardial infarction are at risk of acute kidney injury, which may be aggravated by the iodine-containing contrast agent used during coronary angiography; however, the relationship between these two conditions remains unclear. The current study investigated the relationship between acute kidney injury and coronary heart disease prior to coronary angiography. All patients were evaluated after undergoing coronary angiography in the cardiac catheterization laboratory of the Vinzentius Hospital in Landau, Germany, in 2011. The study group included patients with both acute coronary heart disease and acute kidney injury (as defined according to the classification of the Acute Kidney Injury Group); the control group included patients without acute coronary heart disease. Serum creatinine profiles were evaluated in all patients, as were a variety of demographic and health characteristics. Of the 303 patients examined, 201 (66.34%) had coronary artery disease. Of these, 38 (18.91%) also had both acute kidney injury and acute coronary heart disease prior to and after coronary angiography, and of which in turn 34 (16.91%) had both acute kidney injury and acute coronary heart disease only prior to the coronary angiography. However, the occurrence of acute kidney injury was not significantly related to the presence of coronary heart disease (P = 0.95, Chi-square test). The results of this study indicate that acute kidney injury is not linked to acute coronary heart disease. However, physicians should be aware that many coronary heart patients may develop kidney injury while hospitalized for angiography.

  15. Rare Copy Number Variants in a Population Based Investigation of Hypoplastic Right Heart Syndrome

    Science.gov (United States)

    Dimopoulos, Aggeliki; Sicko, Robert J.; Kay, Denise M.; Rigler, Shannon L.; Druschel, Charlotte M.; Caggana, Michele; Browne, Marilyn L.; Fan, Ruzong; Romitti, Paul A.; Brody, Lawrence C.; Mills, James L.

    2016-01-01

    Background Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS. Methods We genotyped 32 HRHS cases identified from all New York State live births (1998–2005) using Illumina HumanOmni2.5 microarrays. CNVs were called with PennCNV and prioritized if they were ≥20Kb, contained ≥10 SNPs and had minimal overlap with CNVs from in-house controls, the Database of Genomic Variants, HapMap3 and CHOP database. Results We identified 28 CNVs in 17 cases; several encompassed genes important for right heart development. One case had a 2p16–2p23 duplication spanning LBH, a limb and heart development transcription factor. Lbh mis-expression results in right ventricular hypoplasia and pulmonary valve defects. This duplication also encompassed SOS1, a factor associated with pulmonary valve stenosis in Noonan syndrome. Sos1−/− mice display thin and poorly trabeculated ventricles. In another case, we identified a 1.5Mb deletion associated with Williams Beuren syndrome, a disorder that includes valvular malformations. A third case had a 24Kb deletion upstream of the TGFβ ligand ITGB8. Embryos genetically null for Itgb8, and its intracellular interactant Band 4.1B, display lethal cardiac phenotypes. Conclusions To our knowledge, this is the first study of CNVs in HRHS. We identified several rare CNVs that overlap genes related to right ventricular wall and valve development, suggesting that genetics plays a role in HRHS and providing clues for further investigation. PMID:28009100

  16. Aldosterone Does Not Predict Cardiovascular Events Following Acute Coronary Syndrome in Patients Initially Without Heart Failure.

    Science.gov (United States)

    Pitts, Reynaria; Gunzburger, Elise; Ballantyne, Christie M; Barter, Philip J; Kallend, David; Leiter, Lawrence A; Leitersdorf, Eran; Nicholls, Stephen J; Shah, Prediman K; Tardif, Jean-Claude; Olsson, Anders G; McMurray, John J V; Kittelson, John; Schwartz, Gregory G

    2017-01-10

    Aldosterone may have adverse effects in the myocardium and vasculature. Treatment with an aldosterone antagonist reduces cardiovascular risk in patients with acute myocardial infarction complicated by heart failure (HF) and left ventricular systolic dysfunction. However, most patients with acute coronary syndrome do not have advanced HF. Among such patients, it is unknown whether aldosterone predicts cardiovascular risk. To address this question, we examined data from the dal-OUTCOMES trial that compared the cholesteryl ester transfer protein inhibitor dalcetrapib with placebo, beginning 4 to 12 weeks after an index acute coronary syndrome. Patients with New York Heart Association class II (with LVEF coronary heart disease death, nonfatal myocardial infarction, stroke, hospitalization for unstable angina, or resuscitated cardiac arrest. Hospitalization for HF was a secondary endpoint. Over a median follow-up of 37 months, the primary outcome occurred in 366 patients (9.0%), and hospitalization for HF occurred in 72 patients (1.8%). There was no association between aldosterone and either the time to first occurrence of a primary outcome (hazard ratio for doubling of aldosterone 0.92, 95% confidence interval 0.78-1.09, P=0.34) or hospitalization for HF (hazard ratio 1.38, 95% CI 0.96-1.99, P=0.08) in Cox regression models adjusted for covariates. In patients with recent acute coronary syndrome but without advanced HF, aldosterone does not predict major cardiovascular events. URL: http://www.clinicaltrials.gov. Unique identifier: NCT00658515. © 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  17. Heart rate variability in normal-weight patients with polycystic ovary syndrome.

    Science.gov (United States)

    Kilit, Celal; Paşalı Kilit, Türkan

    2017-05-01

    Polycystic ovary syndrome (PCOS) is an endocrine disease closely related to several risk factors of cardiovascular disease. Obese women with PCOS show altered autonomic modulation. The results of studies investigating cardiac autonomic functions of normal-weight women with PCOS are conflicting. The aim of the study was to assess the reactivity of cardiac sympathovagal balance in normal-weight women with PCOS by heart rate variability analysis. We examined the heart rate variability in 60 normal-weight women with PCOS and compared them with that in 60 age-matched healthy women having a similar metabolic profile. Time and frequency domain parameters of heart rate variability were analyzed based on 5-min-long continuous electrocardiography recordings for the following 3 periods: (1) during rest in supine position, (2) during controlled breathing, and (3) during isometric handgrip exercise. Time and frequency domain parameters of heart rate variability for the 3 periods assessed were similar in the two groups. Although modified Ferriman-Gallwey score and serum testosterone and luteinizing hormone levels were significantly higher in women with PCOS, homeostatic model assessment-insulin resistance (HOMA-IR) was not different the between the PCOS and control groups. There were no significant correlations between serum testosterone levels and heart rate variability parameters among the study population. The findings of this study suggest that the reactivity of cardiac sympathovagal balance is not altered in normal-weight women with PCOS having a normal HOMA-IR.

  18. Seasonal changes in mood and behavior are linked to metabolic syndrome.

    Directory of Open Access Journals (Sweden)

    Reeta Rintamäki

    Full Text Available BACKGROUND: Obesity is a major public health problem worldwide. Metabolic syndrome is a risk factor to the cardiovascular diseases. It has been reported that disruptions of the circadian clockwork are associated with and may predispose to metabolic syndrome. METHODOLOGY AND PRINCIPAL FINDINGS: 8028 individuals attended a nationwide health examination survey in Finland. Data were collected with a face-to-face interview at home and during an individual health status examination. The waist circumference, height, weight and blood pressure were measured and samples were taken for laboratory tests. Participants were assessed using the ATP-III criteria for metabolic syndrome and with the Seasonal Pattern Assessment Questionnaire for their seasonal changes in mood and behavior. Seasonal changes in weight in particular were a risk factor of metabolic syndrome, after controlling for a number of known risk and potential confounding factors. CONCLUSIONS AND SIGNIFICANCE: Metabolic syndrome is associated with high global scores on the seasonal changes in mood and behavior, and with those in weight in particular. Assessment of these changes may serve as a useful indicator of metabolic syndrome, because of easy assessment. Abnormalities in the circadian clockwork which links seasonal fluctuations to metabolic cycles may predispose to seasonal changes in weight and to metabolic syndrome.

  19. Impact of Experiencing Acute Coronary Syndrome Prior to Open Heart Surgery on Psychiatric Status

    Directory of Open Access Journals (Sweden)

    Volkan Yüksel

    Full Text Available Abstract Objective: The incidence of depression and anxiety is higher in patients with acute coronary syndrome. The aim of this study is to determine whether experiencing acute coronary syndrome prior to open heart surgery affects patients in terms of depression, hopelessness, anxiety, fear of death and quality of life. Methods: The study included 63 patients who underwent coronary bypass surgery between January 2015 and January 2016. The patients were divided into two groups: those diagnosed after acute coronary syndrome (Group 1 and those diagnosed without acute coronary syndrome (Group 2. Beck depression scale, Beck hopelessness scale, Templer death anxiety scale and death depression scale, State-Trait anxiety inventory and WHOQOL-Bref quality of life scale were applied. Results: There was no significant difference between the two groups in terms of the total score obtained from Beck depression scale, Beck hopelessness scale - future-related emotions, loss of motivation, future-related expectations subgroups, death anxiety scale, the death depression scale, State-Trait Anxiety Inventory - social and environmental subgroups. The mental quality of life sub-scores of group 2 were significantly higher. The patients in both groups were found to be depressed and hopeless about the future. Anxiety levels were found to be significantly higher in all of the patients in both groups. Conclusion: Acute coronary syndrome before coronary artery bypass surgery impairs more the quality of life in mental terms. But unexpectedly there are no differences in terms of depression, hopelessness, anxiety and fear of death.

  20. Impact of Experiencing Acute Coronary Syndrome Prior to Open Heart Surgery on Psychiatric Status.

    Science.gov (United States)

    Yüksel, Volkan; Gorgulu, Yasemin; Cinar, Rugul Kose; Huseyin, Serhat; Sonmez, Mehmet Bulent; Canbaz, Suat

    2016-01-01

    The incidence of depression and anxiety is higher in patients with acute coronary syndrome. The aim of this study is to determine whether experiencing acute coronary syndrome prior to open heart surgery affects patients in terms of depression, hopelessness, anxiety, fear of death and quality of life. The study included 63 patients who underwent coronary bypass surgery between January 2015 and January 2016. The patients were divided into two groups: those diagnosed after acute coronary syndrome (Group 1) and those diagnosed without acute coronary syndrome (Group 2). Beck depression scale, Beck hopelessness scale, Templer death anxiety scale and death depression scale, State-Trait anxiety inventory and WHOQOL-Bref quality of life scale were applied. There was no significant difference between the two groups in terms of the total score obtained from Beck depression scale, Beck hopelessness scale - future-related emotions, loss of motivation, future-related expectations subgroups, death anxiety scale, the death depression scale, State-Trait Anxiety Inventory - social and environmental subgroups. The mental quality of life sub-scores of group 2 were significantly higher. The patients in both groups were found to be depressed and hopeless about the future. Anxiety levels were found to be significantly higher in all of the patients in both groups. Acute coronary syndrome before coronary artery bypass surgery impairs more the quality of life in mental terms. But unexpectedly there are no differences in terms of depression, hopelessness, anxiety and fear of death.

  1. What fans the fire: insights into mechanisms of leptin in metabolic syndrome-associated heart diseases.

    Science.gov (United States)

    Dong, Maolong; Ren, Jun

    2014-01-01

    Obesity and metabolic syndrome are one of the most devastating risk factors for cardiovascular diseases. The obesity gene product leptin plays a central role in the regulation of food intake and energy expenditure. The physiological and pathophysiological roles of leptin in cardiovascular system have been investigated extensively since its discovery in 1994. In addition to its well-established metabolic effects, more recent evidence have depicted a rather pivotal role of leptin in inflammation, oxidative stress, endoplasmic reticulum stress, apoptosis and tissue remodeling en route to the pathogenesis of type 2 diabetes mellitus, hypertension, atherosclerosis, and insulin resistance. Under physiological condition, leptin is known to reduce appetite, promote energy expenditure, increase sympathetic activity, facilitate glucose utilization and improve insulin sensitivity. In addition, leptin may regulate cardiac and vascular function through a nitric oxide-dependent mechanism. However, hyperleptinemia usually occurs with progressively increased body weight and metabolic syndrome development, leading to a state of global or selective leptin resistance. Both central and peripheral leptin resistance may be present under pathophysiological conditions such as inflammation, insulin resistance, hyperlipidemia and a cadre of other cardiovascular diseases including hypertension, atherosclerosis, obesity, ischemic heart disease and heart failure. In this review, we will discuss cardiovascular actions of leptin related to various components of metabolic syndrome. Particular emphasis will be given to insights derived from therapeutic interventions with lifestyle modification, cardiovascular drugs, anti-diabetic and anti-obesity drugs.

  2. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

    Science.gov (United States)

    Verloes, Alain; Bremond-Gignac, Dominique; Isidor, Bertrand; David, Albert; Baumann, Clarisse; Leroy, Marie-Anne; Stevens, René; Gillerot, Yves; Héron, Delphine; Héron, Bénédicte; Benzacken, Brigitte; Lacombe, Didier; Brunner, Han; Bitoun, Pierre

    2006-06-15

    We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current nosology, five sporadic patients have Ohdo syndrome, associated with congenital hypothyroidism in two of them (thus also compatible with a diagnosis of Young-Simpson syndrome). In two affected sibs with milder phenotype, compensated hypothyroidism was demonstrated. In another family, an affected boy was born to the unaffected sister of a previously reported patient. Finally, in the last sibship, two affected boys in addition had severe microcephaly and neurological anomalies. A definitive clinical and etiologic classification of BMRS is lacking, but closer phenotypic analysis should lead to a more useful appraisal of the BMRS phenotype. We suggest discontinuing the systematic use of the term "Ohdo syndrome" when referring to patients with BMRS. We propose a classification of BMRS into five groups: (1) del(3p) syndrome, (possibly overlooked in older reports); (2) BMRS, Ohdo type, limited to the original patients of Ohdo; (3) BMRS SBBYS (Say-Barber/Biesecker/Young-Simpson) type, with distinctive dysmorphic features and inconstant anomalies including heart defect, optic atrophy, deafness, hypoplastic teeth, cleft palate, joint limitations, and hypothyroidism. BMRS type SBBYS is probably an etiologically heterogeneous phenotype, as AD and apparently AR forms exist; (4) BMRS, MKB (Maat-Kievit-Brunner) type, with coarse, triangular face, which is probably sex-linked; (5) BMRS V (Verloes) type, a probable new type with severe microcephaly, hypsarrhythmia, adducted thumbs, cleft palate, and abnormal genitalia, which is likely autosomal recessive. Types MKB and V are newly described here. Copyright 2006 Wiley-Liss, Inc.

  3. Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

    Science.gov (United States)

    Hildebrand, Michael S; de Silva, Michelle G; Tan, Tiong Yang; Rose, Elizabeth; Nishimura, Carla; Tolmachova, Tanya; Hulett, Joanne M; White, Susan M; Silver, Jeremy; Bahlo, Melanie; Smith, Richard J H; Dahl, Hans-Henrik M

    2007-11-01

    X-linked syndromes associated with developmental delay and sensorineural hearing loss (SNHL) have been characterized at the molecular level, including Mohr-Tranebjaerg syndrome and Norrie disease. In this study we report on a novel X-linked recessive, congenital syndrome in a family with developmental delay and SNHL that maps to a locus associated with mental retardation (MR) for which no causative gene has been identified. The X-linked recessive inheritance and congenital nature of the syndrome was confirmed by detailed clinical investigation and the family history. Linkage mapping of the X-chromosome was conducted to ascertain the disease locus and candidate genes were screened by direct sequencing and STRP analysis. The recessive syndrome was mapped to Xp11.3-q21.32 and a deletion was identified in a regulatory region upstream of the POU3F4 gene in affected family members. Since mutations in POU3F4 cause deafness at the DFN3 locus, the deletion is the likely cause of the SNHL in this family. The choroideremia (CHM) gene was also screened and a novel missense change was identified. The alteration changes the serine residue at position 89 in the Rab escort 1 protein (REP-1) to a cysteine (S89C). Prenylation of Rab proteins was investigated in patients and the location of REP-1 expression in the brain determined. However, subsequent analysis revealed that this change in CHM was polymorphic having no effect on REP-1 function. Although the causative gene at the MR locus in this family has not been identified, there are a number of genes involved in syndromic and nonsyndromic forms of MR that are potential candidates. Copyright 2007 Wiley-Liss, Inc.

  4. X-linked Acrogigantism (X-LAG) Syndrome: Clinical Profile and Therapeutic Responses

    OpenAIRE

    Beckers, Albert; Lodish, Maya Beth; Trivellin, Giampaolo; Rostomyan, Liliya; Lee, Misu; Faucz, Fabio R; Yuan, Bo; Choong, Catherine S; Caberg, Jean-Hubert; Verrua, Elisa; Naves, Luciana Ansaneli; Cheetham, Tim D; Young, Jacques; Lysy, Philippe A; Petrossians, Patrick

    2015-01-01

    X-linked acro-gigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and a microduplication in chromosome Xq26.3. All sporadic cases had unique duplications and the...

  5. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart......, liver and skeletal muscle of patients have revealed mitochondrial malformations and dysfunctions. It is the purpose of this review to summarize recent results of studies on various animal or cell models of Barth syndrome, which have characterized biochemically the strong cellular defects associated...

  6. Heart Rate Variability Is Associated with Exercise Capacity in Patients with Cardiac Syndrome X.

    Directory of Open Access Journals (Sweden)

    Dai-Yin Lu

    Full Text Available Heart rate variability (HRV reflects the healthiness of autonomic nervous system, which is associated with exercise capacity. We therefore investigated whether HRV could predict the exercise capacity in the adults with cardiac syndrome X (CSX. A total of 238 subjects (57±12 years, 67.8% men, who were diagnosed as CSX by the positive exercise stress test and nearly normal coronary angiogram were enrolled. Power spectrum from the 24-hour recording of heart rate was analyzed in frequency domain using total power (TP and spectral components of the very low frequency (VLF, low frequency (LF and high frequency (HF ranges. Among the study population, 129 subjects with impaired exercise capacity during the treadmill test had significantly lower HRV indices than those with preserved exercise capacity (≥90% of the age predicted maximal heart rate. After accounting for age, sex, and baseline SBP and heart rate, VLF (odds ratio per 1SD and 95% CI: 2.02, 1.19-3.42, LF (1.67, 1.10-2.55, and TP (1.82, 1.17-2.83 remained significantly associated with preserved exercise capacity. In addition, increased HRV indices were also associated with increased exercise duration, rate-pressure product, and heart rate recovery, independent of age, body mass index, and baseline SBP and heart rate. In subgroup analysis, HRV indices demonstrated similar predictive values related to exercise capacity across various subpopulations, especially in the young. In patients with CSX, HRV was independently associated with exercise capacity, especially in young subjects. The healthiness of autonomic nervous system may have a role in modulating the exercise capacity in patients with CSX.

  7. All in the family: Clueing into the link between metabolic syndrome and hematologic malignancies.

    Science.gov (United States)

    Karmali, Reem; Dalovisio, Andrew; Borgia, Jeffrey A; Venugopal, Parameswaran; Kim, Brian W; Grant-Szymanski, Kelly; Hari, Parameswaran; Lazarus, Hillard

    2015-03-01

    Metabolic syndrome constitutes a constellation of findings including central obesity, insulin resistance/type 2 diabetes mellitus (DM), dyslipidemia and hypertension. Metabolic syndrome affects 1 in 4 adults in the United States and is rapidly rising in prevalence, largely driven by the dramatic rise in obesity and insulin resistance/DM. Being central to the development of metabolic syndrome and its other related diseases, much focus has been placed on identifying the mitogenic effects of obesity and insulin resistance/DM as mechanistic clues of the link between metabolic syndrome and cancer. Pertinent mechanisms identified include altered lipid signaling, adipokine and inflammatory cytokine effects, and activation of PI3K/Akt/mTOR and RAS/RAF/MAPK/ERK pathways via dysregulated insulin/insulin-like growth factor-1 (IGF-1) signaling. Through variable activation of these multiple pathways, obesity and insulin resistance/DM pre-dispose to hematologic malignancies, imposing the aggressive and chemo-resistant phenotypes typically seen in cancer patients with underlying metabolic syndrome. Growing understanding of these pathways has identified druggable cancer targets, rationalizing the development and testing of agents like PI3K inhibitor idelalisib, mTOR inhibitors everolimus and temsirolimus, and IGF-1 receptor inhibitor linsitinib. It has also led to exploration of obesity and diabetes-directed therapies including statins and oral hypoglycemic for the management of metabolic syndrome-related hematologic neoplasms. Copyright © 2014 Elsevier Ltd. All rights reserved.

  8. Heart defects and other features of the 22q11 distal deletion syndrome

    DEFF Research Database (Denmark)

    Fagerberg, Christina Ringmann; Graakjaer, Jesper; Heinl, Ulrike D

    2013-01-01

    patients with 22q11 distal deletions, of whom two have complex congenital heart malformation, thus broadening the phenotypic spectrum. We compare cardiac malformations reported in 22q11 distal deletion to those reported in the common 22q11 deletion syndrome. We also review the literature for patients...... with 22q11 distal deletions, and discuss the possible roles of haploinsufficiency of the MAPK1 gene. We find the most frequent features in 22q11 distal deletion to be developmental delay or learning disability, short stature, microcephalus, premature birth with low birth weight, and congenital heart...... malformation ranging from minor anomalies to complex malformations. Behavioral problems are also seen in a substantial portion of patients. The following dysmorphic features are relatively common: smooth philtrum, abnormally structured ears, cleft palate/bifid uvula, micro-/retrognathia, upslanting palpebral...

  9. Prolonged Tp-e Interval in Down Syndrome Patients with Congenitally Normal Hearts.

    Science.gov (United States)

    Kucuk, Mehmet; Karadeniz, Cem; Ozdemir, Rahmi; Meşe, Timur

    2018-03-25

    Heterogeneity of ventricular repolarization has been assessed by using the QT dispersion in Down syndrome (DS) patients with congenitally normal hearts. However, novel repolarization indexes, the Tp-e interval and Tp-e/QT ratio, have not previously been evaluated in these patients. The aim of this study was to evaluate the Tp-e interval and Tp-e/QT ratio in DS patients without congenital heart defects. Twelve-lead surface electrocardiograms of 160 DS patients and 110 age- and sex-matched healthy controls were used to evaluate and compare the Tp-e interval, Tp-e dispersion, and Tp-e/QT ratio. Heart rate, Tp-e interval, Tp-e dispersion, Tp-e/QT and Tp-e/QTc ratios were significantly higher in DS group than in the controls. Myocardial repolarization indexes in DS patients with congenitally normal hearts were found to be prolonged compared to those in normal controls. Further evaluation is warranted to reveal a relationship between prolonged repolarization indexes and arrhythmic events in these patients. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  10. Are de novo acute heart failure and acutely worsened chronic heart failure two subgroups of the same syndrome?

    Directory of Open Access Journals (Sweden)

    Banović Marko

    2010-01-01

    Full Text Available Introduction. Acute heart failure (AHF is one of the most common diseases in emergency medicine, associated with poor prognosis and high in-hospital and long-term mortality. Objective. To investigate clinical presentation of patients with de novo AHF and acute worsening of chronic heart failure (CHF and to identify differences in blood levels of biomarkers and echocardiography findings. Methods. This prospective study comprised 64 consecutive patients being grouped according to the onset of the disease into patients with the de novo AHF (45.3%, and patients with acute worsening of CHF (54.7%. Results. Acute congestion (60% was the most common manifestation of de novo AHF, whereas pulmonary oedema (43.1% was the most common manifestation of acutely decompensated CHF. Patients with acutely decompensated CHF had significantly higher blood values of creatinine (147.10 vs 113.16 μmol/l; p<0.05, urea (12.63 vs 7.82 mmol/l; p<0.05, BNP (1440.11 vs 712.24 pg/ml; p<001 and NTproBNP (9097.00 vs 2827.70 pg/ml; p<0.01 on admission, and lower values of M-mode left ventricular ejection fraction (LVEF during hospitalization (49.44% vs 42.94%; p<0.05. The follow-up after one year revealed still significantly higher BNP (365.49 vs 164.02 pg/ ml; p<0.05 and lower average values of both LVEF in patients with acutely worsened CHF (46.62% vs 54.41% and 39.52% vs 47.88%; p<0.05. Conclusion. Considering differences in clinical severity on admission, echocardiography and natriuretic peptide values during hospitalization and after one year follow-up, de novo AHF and acutely worsened CHF are two different subgroups of the same syndrome.

  11. [Heart rate variability as a method of assessing the autonomic nervous system in polycystic ovary syndrome].

    Science.gov (United States)

    de Sá, Joceline Cássia Ferezini; Costa, Eduardo Caldas; da Silva, Ester; Azevedo, George Dantas

    2013-09-01

    Polycystic ovary syndrome (PCOS) is an endocrine disorder associated with several cardiometabolic risk factors, such as central obesity, insulin resistance, type 2 diabetes, metabolic syndrome, and hypertension. These factors are associated with adrenergic overactivity, which is an important prognostic factor for the development of cardiovascular disorders. Given the common cardiometabolic disturbances occurring in PCOS women, over the last years studies have investigated the cardiac autonomic control of these patients, mainly based on heart rate variability (HRV). Thus, in this review, we will discuss the recent findings of the studies that investigated the HRV of women with PCOS, as well as noninvasive methods of analysis of autonomic control starting from basic indexes related to this methodology.

  12. Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome?

    Science.gov (United States)

    Cohen, J; Schanen, N C

    2000-01-01

    The features of Goldenhar complex have been well-described and classically include branchial arch abnormalities, epibulbar dermoid and vertebral abnormalities. We have identified an infant with these features in association with complex congenital heart disease and intrahepatic biliary atresia. Although Lambert described an autosomal recessive disorder with an association of biliary atresia and branchial arch abnormalities, none of those cases had epibulbar dermoid. Diagnostic considerations in this case include inclusion of biliary atresia as a new feature in the expanding spectrum of the Goldenhar complex, versus Lambert syndrome with epibulbar dermoid.

  13. Meier-Gorlin syndrome: Report of an additional patient with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2014-10-01

    Full Text Available We report a 7 year old female child with the classical triad of Meier-Gorlin syndrome (MGS, (microtia, absent patella and short stature. She had the characteristic facial features, with normal mentality and defective speech, skeletal abnormalities, conductive hearing loss, cystitis and normal growth hormone level. She suffered from recurrent chest infection during the first year of life which improved gradually with age. Although congenital heart is rarely observed in MGS, our patient had in addition fenestrated interatrial septal defect.

  14. Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome

    NARCIS (Netherlands)

    Kroes, Hester Y.; Nievelstein, Rutger-Jan A. J.; Barth, Peter G.; Nikkels, Peter G. J.; Bergmann, Carsten; Gooskens, Rob H. J. M.; Visser, Gepke; van Amstel, Hans-Kristian Ploos; Beemer, Frits A.

    2005-01-01

    We present a so far unrecognized X-linked mental retardation syndrome with features overlapping with Joubert syndrome (JBS). Two brothers showed hypotonia, mental retardation, ocular abnormalities with impaired vision and colobomas and a breathing pattern compatible with JBS. Neuroimaging revealed

  15. NPAS2 and PER2 are linked to risk factors of the metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Aromaa Arpo

    2009-05-01

    Full Text Available Abstract Background Mammalian circadian clocks control multiple physiological events. The principal circadian clock generates seasonal variations in behavior as well. Seasonality elevates the risk for metabolic syndrome, and evidence suggests that disruption of the clockwork can lead to alterations in metabolism. Our aim was to analyze whether circadian clock polymorphisms contribute to seasonal variations in behavior and to the metabolic syndrome. Methods We genotyped 39 single-nucleotide polymorphisms (SNP from 19 genes which were either canonical circadian clock genes or genes related to the circadian clockwork from 517 individuals drawn from a nationwide population-based sample. Associations between these SNPs and seasonality, metabolic syndrome and its risk factors were analyzed using regression analysis. The p-values were corrected for multiple testing. Results Our findings link circadian gene variants to the risk factors of the metabolic syndrome, since Npas2 was associated with hypertension (P-value corrected for multiple testing = 0.0024 and Per2 was associated with high fasting blood glucose (P-value corrected for multiple testing = 0.049. Conclusion Our findings support the view that relevant relationships between circadian clocks and the metabolic syndrome in humans exist.

  16. Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.

    Science.gov (United States)

    Daly, Adrian F; Yuan, Bo; Fina, Frederic; Caberg, Jean-Hubert; Trivellin, Giampaolo; Rostomyan, Liliya; de Herder, Wouter W; Naves, Luciana A; Metzger, Daniel; Cuny, Thomas; Rabl, Wolfgang; Shah, Nalini; Jaffrain-Rea, Marie-Lise; Zatelli, Maria Chiara; Faucz, Fabio R; Castermans, Emilie; Nanni-Metellus, Isabelle; Lodish, Maya; Muhammad, Ammar; Palmeira, Leonor; Potorac, Iulia; Mantovani, Giovanna; Neggers, Sebastian J; Klein, Marc; Barlier, Anne; Liu, Pengfei; Ouafik, L'Houcine; Bours, Vincent; Lupski, James R; Stratakis, Constantine A; Beckers, Albert

    2016-04-01

    Somatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently characterized genomic form of pediatric gigantism due to aggressive pituitary tumors that is caused by submicroscopic chromosome Xq26.3 duplications that include GPR101 We studied XLAG syndrome patients (n= 18) to determine if somatic mosaicism contributed to the genomic pathophysiology. Eighteen subjects with XLAG syndrome caused by Xq26.3 duplications were identified using high-definition array comparative genomic hybridization (HD-aCGH). We noted that males with XLAG had a decreased log2ratio (LR) compared with expected values, suggesting potential mosaicism, whereas females showed no such decrease. Compared with familial male XLAG cases, sporadic males had more marked evidence for mosaicism, with levels of Xq26.3 duplication between 16.1 and 53.8%. These characteristics were replicated using a novel, personalized breakpoint junction-specific quantification droplet digital polymerase chain reaction (ddPCR) technique. Using a separate ddPCR technique, we studied the feasibility of identifying XLAG syndrome cases in a distinct patient population of 64 unrelated subjects with acromegaly/gigantism, and identified one female gigantism patient who had had increased copy number variation (CNV) threshold for GPR101 that was subsequently diagnosed as having XLAG syndrome on HD-aCGH. Employing a combination of HD-aCGH and novel ddPCR approaches, we have demonstrated, for the first time, that XLAG syndrome can be caused by variable degrees of somatic mosaicism for duplications at chromosome Xq26.3. Somatic mosaicism was shown to occur in sporadic males but not in females with XLAG syndrome, although the clinical characteristics of the disease were similarly severe in both sexes. © 2016 Society for Endocrinology.

  17. Somatic Mosaicism Underlies X-linked Acrogigantism (XLAG) Syndrome in Sporadic Male Subjects

    Science.gov (United States)

    Daly, Adrian F.; Yuan, Bo; Fina, Frederic; Caberg, Jean-Hubert; Trivellin, Giampaolo; Rostomyan, Liliya; de Herder, Wouter W.; Naves, Luciana A.; Metzger, Daniel; Cuny, Thomas; Rabl, Wolfgang; Shah, Nalini; Jaffrain-Rea, Marie-Lise; Zatelli, Maria Chiara; Faucz, Fabio R; Castermans, Emilie; Nanni-Metellus, Isabelle; Lodish, Maya; Muhammad, Ammar; Palmeira, Leonor; Potorac, Iulia; Mantovani, Giovanna; Neggers, Sebastian J.; Klein, Marc; Barlier, Anne; Liu, Pengfei; Ouafik, L'Houcine; Bours, Vincent; Lupski, James R.; Stratakis, Constantine A.; Beckers., Albert

    2016-01-01

    Somatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently characterized genomic form of pediatric gigantism due to aggressive pituitary tumors that is caused by submicroscopic chromosome Xq26.3 duplications that include GPR101. We studied XLAG syndrome patients (N=18) to determine if somatic mosaicism contributed to the genomic pathophysiology. Eighteen subjects with XLAG syndrome were identified with Xq26.3 duplications using high definition array comparative genome hybridization (HD-aCGH). We noted males with XLAG had a decreased log2 ratio compared with expected values, suggesting potential mosaicism, while females showed no such decrease. As compared with familial male XLAG cases, sporadic males had more marked evidence for mosaicism, with levels of Xq26.3 duplication between 16.1-53.8%. These characteristics were replicated using a novel, personalized breakpoint-junction specific quantification droplet digital PCR (ddPCR) technique. Using a separate ddPCR technique we studied the feasibility of identifying XLAG syndrome cases in a distinct patient population of 64 unrelated subjects with acromegaly/gigantism and identified one female gigantism patient that had increased copy number variation (CNV) threshold for GPR101 that was subsequently diagnosed as having XLAG syndrome on HD-aCGH. Employing a combination of HD-aCGH and novel ddPCR approaches, we have demonstrated, for the first time, that XLAG syndrome can be caused by variable degrees of somatic mosaicism for duplications at chromosome Xq26.3. Somatic mosaicism was shown to occur in sporadic males but not in females with XLAG syndrome, although the clinical characteristics of the disease were similarly severe in both sexes. PMID:26935837

  18. [Endothelial dysfunction as a marker of vascular aging syndrome on the background of hypertension, coronary heart disease, gout and obesity].

    Science.gov (United States)

    Vatseba, M O

    2013-09-01

    Under observation were 40 hypertensive patients with coronary heart disease, gout and obesity I and II degree. Patients with hypertension in combination with coronary heart disease, gout and obesity, syndrome of early vascular aging is shown by increased stiffness of arteries, increased peak systolic flow velocity, pulse blood presure, the thickness of the intima-media complex, higher level endotelinemia and reduced endothelial vasodilation. Obtained evidence that losartan in complex combination with basic therapy and metamaks in complex combination with basic therapy positively affect the elastic properties of blood vessels and slow the progression of early vascular aging syndrome.

  19. Effects of aerobic exercise on the resting heart rate, physical fitness, and arterial stiffness of female patients with metabolic syndrome.

    Science.gov (United States)

    Kang, Seol-Jung; Kim, Eon-Ho; Ko, Kwang-Jun

    2016-06-01

    [Purpose] The purpose of this study was to investigate the effects of aerobic exercise on the resting heart rate, physical fitness, and arterial stiffness or female patients with metabolic syndrome. [Subjects and Methods] Subjects were randomly assigned to an exercise group (n=12) or a control group (n=11). Subjects in the exercise group performed aerobic exercise at 60-80% of maximum heart rate for 40 min 5 times a week for 12 weeks. The changes in metabolic syndrome risk factors, resting heart rate, physical fitness, and arterial stiffness were measured and analyzed before and after initiation of the exercise program to determine the effect of exercise. Arterial stiffness was assessed based on brachial-ankle pulse wave velocity (ba-PWV). [Results] Compared to the control group; The metabolic syndrome risk factors (weight, % body fat, waist circumference, systolic blood pressure, diastolic blood pressure, and HDL-Cholesterol) were significantly improved in the exercise: resting heart rate was significantly decreased; VO2max, muscle strength and muscle endurance were significantly increased; and ba-PWV was significantly decreased. [Conclusion] Aerobic exercise had beneficial effects on the resting heart rate, physical fitness, and arterial stiffness of patients with metabolic syndrome.

  20. The Prevalence of Celiac Disease in Down syndrome Children with and without Congenital Heart Defects

    Directory of Open Access Journals (Sweden)

    Noor Mohammad Noori

    2016-07-01

    Full Text Available Background The prevalence of celiac disease (CD is remarkably varied in Down syndrome(DSpatientscompared with other diseases.  This study aimed to assess celiac disease prevalence in Down syndrome children with and without congenital heart defects (CHD and its comparison with controls. Materials and Methods This case-control study was performed at a single center on 132 participants in three groups. Clinical and genetic tests were performed on all patients suspected with Down syndrome to confirm their diseases.  After that in patients with confirmed Down syndrome echocardiography was carried out to diagnosis of CHD. Healthy children selected randomly among those who referred to the center for annual check-up. Statistical evaluation was done using SPSS-16. Results For the factors of age, weight, height and Body Mass Index (BMI not observed significant differences between three groups of participants, but it would be observed statistically differences for the variable of tTG- IgA.  For variables of weight, tTG- IgA and BMI was observed statistically different in the case and controls. The status of tTG- IgA (normal or 20 had significant correlation with three groups of controls, Down syndrome with and without CHD. The status of tTG- IgA also had significant correlation with groups of case and controls. In comparison of tTG- IgA in DS patients with and without CHD, no significant differences were observed. Conclusion The prevalence of CD in DS patients was higher compared the controls population; and in DS patients with CHD was higher compared the DS patients without CHD.

  1. Heart rate variability measurement and clinical depression in acute coronary syndrome patients: narrative review of recent literature

    Directory of Open Access Journals (Sweden)

    Harris PR

    2014-07-01

    Full Text Available Patricia RE Harris,1 Claire E Sommargren,2 Phyllis K Stein,3 Gordon L Fung,4,5 Barbara J Drew6,7 1ECG Monitoring Research Lab, 2Department of Physiological Nursing, School of Nursing, University of California, San Francisco, CA, USA; 3Heart Rate Variability Laboratory, School of Medicine, Washington University, St Louis, MO, USA; 4Asian Heart & Vascular Center at Mount Zion, Division of Cardiology, University of California, 5Cardiology Consultation Service, Cardiac Noninvasive Laboratory, and The Enhanced External Counterpulsation Unit, Department of Medicine, University of California, San Francisco Medical Center, 6Division of Cardiology, 7Department of Physiological Nursing, School of Nursing, University of California, San Francisco, CA, USA Aim: We aimed to explore links between heart rate variability (HRV and clinical depression in patients with acute coronary syndrome (ACS, through a review of recent clinical research literature. Background: Patients with ACS are at risk for both cardiac autonomic dysfunction and clinical depression. Both conditions can negatively impact the ability to recover from an acute physiological insult, such as unstable angina or myocardial infarction, increasing the risk for adverse cardiovascular outcomes. HRV is recognized as a reflection of autonomic function. Methods: A narrative review was undertaken to evaluate state-of-the-art clinical research, using the PubMed database, January 2013. The search terms “heart rate variability” and “depression” were used in conjunction with “acute coronary syndrome”, “unstable angina”, or “myocardial infarction” to find clinical studies published within the past 10 years related to HRV and clinical depression, in patients with an ACS episode. Studies were included if HRV measurement and depression screening were undertaken during an ACS hospitalization or within 2 months of hospital discharge. Results: Nine clinical studies met the inclusion criteria. The

  2. Endothelial dysfunction and reduced heart rate variability in patients with metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Elena Nikolaevna Smirnova

    2018-03-01

    Full Text Available According to experts of the World Health Organization (WHO, metabolic syndrome (MS can be considered as pandemy of the XXI century, because its prevalence among the population of developed countries is about 25-35%. In this study with the purpose of complex investigation of the autonomic nervous system and endothelial function we included 66 patients with MS between the ages of 25 and 61 (46.9±9.9 years. A comparison group of apparently healthy individuals (16 individuals, average age of 45.3±2.3 years; P>0.05 was studied. To evaluate the response of microvascular tone, we used the method of wavelet analysis of skin temperature oscillations during cooling of the limb. All patients underwent the study of heart rate variability. The levels of insulin, endothelin-1, and vascular endothelial growth factor were determined using enzyme immunoassay. Patients with MS had significant differences in all metabolic parameters. Our study showed that in the group of MS there is a decrease of the variability of heart rhythm compared with the healthy group. Conducting cold test revealed signs of endothelial dysfunction in the MS group, which was manifested by the decrease of the index of vasodilation in the endothelial and neurogenic frequency range. In the study group we determined the increase in biochemical markers of endothelial dysfunction, which correlated with parameters of vasodilation. Also, the presence of endothelial dysfunction significantly correlated with signs of reduction of the variability of the heart rhythm.

  3. Churg-Strauss syndrome and persistent heart failure: active disease or damage?

    Science.gov (United States)

    Lin, Yih Chang; Oliveira, Guilherme H M; Villa-Forte, Alexandra

    2013-10-01

    Churg-Strauss syndrome (CSS) is a rare small-vessel vasculitis typically associated with adult-onset asthma, peripheral and tissue hypereosinophilia, migratory pulmonary infiltrates, upper respiratory tract symptoms, and clinical evidence of systemic vasculitis. Cardiac involvement is a well-recognized complication with an estimated prevalence of 60%. Heart disease is associated with poor prognosis, accounting for almost 50% mortality in CSS. We present a case of a 48-year-old woman with CSS complicated by congestive heart failure with left ventricular ejection fraction of 25%, who was initially treated with long course of high-dose steroids without any clinical or echocardiographic improvement. She was referred to our hospital 1 year later and was initiated with cyclophosphamide 2 mg/kg per day and prednisone 60 mg/d followed by slow taper. Subsequently, the patient had remarkable improvement. Patient was then transitioned to azathioprine for 1.5 years with sustained disease remission. It may be difficult to determine myocardial disease activity status versus tissue damage in CSS with prolonged duration of heart failure symptoms. This is the first case report demonstrating that CSS cardiac disease may remain active despite 1 year of corticosteroid therapy, and significant improvement or remission can still be achieved by administering more aggressive cytotoxic immunosuppressive therapy.

  4. Acute Systolic Heart Failure Associated with Complement-Mediated Hemolytic Uremic Syndrome

    Directory of Open Access Journals (Sweden)

    John L. Vaughn

    2015-01-01

    Full Text Available Complement-mediated hemolytic uremic syndrome (otherwise known as atypical HUS is a rare disorder of uncontrolled complement activation that may be associated with heart failure. We report the case of a 49-year-old female with no history of heart disease who presented with microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. Given her normal ADAMSTS13 activity, evidence of increased complement activation, and renal biopsy showing evidence of thrombotic microangiopathy, she was diagnosed with complement-mediated HUS. She subsequently developed acute hypoxemic respiratory failure secondary to pulmonary edema requiring intubation and mechanical ventilation. A transthoracic echocardiogram showed evidence of a Takotsubo cardiomyopathy with an estimated left ventricular ejection fraction of 20%, though ischemic cardiomyopathy could not be ruled out. Treatment was initiated with eculizumab. After several failed attempts at extubation, she eventually underwent tracheotomy. She also required hemodialysis to improve her uremia and hypervolemia. After seven weeks of hospitalization and five doses of eculizumab, her renal function and respiratory status improved, and she was discharged in stable condition on room air and independent of hemodialysis. Our case illustrates a rare association between acute systolic heart failure and complement-mediated HUS and highlights the potential of eculizumab in stabilizing even the most critically-ill patients with complement-mediated disease.

  5. A possible new syndrome with double endocrine tumors in association with an unprecedented type of familial heart-hand syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Yamagishi Masakazu

    2010-10-01

    Full Text Available Abstract Introduction The combination of a pituitary prolactinoma and an aldosterone-producing adrenal adenoma is extremely rare. To the best of our knowledge, double endocrine tumors in association with heart-hand syndrome have not previously been reported. Case presentation A 21-year-old Japanese woman presented with galactorrhea and decreased visual acuity. A large pituitary adenoma with an increased level of serum prolactin was apparent by computed tomography. She additionally showed mild hypertension (136/90 mmHg accompanied by hypokalemia. The plasma aldosterone concentration was increased. Computed tomography showed a mass in the right adrenal gland. No other tumors were found despite extensive imaging studies. Physical and radiographic examinations showed skeletal malformations of the hands and feet, including hypoplasia of the first digit in all four limbs. An atrial septal defect was demonstrated by echocardiography. Similar digital and cardiac abnormalities were detected in our patient's father, and a clinical diagnosis of hereditary heart-hand syndrome was made. Conclusion No established heart-hand syndrome was wholly compatible with the family's phenotype. Her father had no obvious endocrine tumors, implying that the parent of transmission determined variable phenotypic expression of the disease: heart-hand syndrome with multiple endocrine tumors from the paternal transmission or no endocrine tumor from the maternal transmission. This suggests that the gene or genes responsible for the disease may be under tissue-specific imprinting control.

  6. Mutilating keratoderma with concomitant alopecia and keratoses follicularis spinulosa decalvans: X-linked olmsted syndrome and its response to isotretinoin

    Directory of Open Access Journals (Sweden)

    Gunjan Verma

    2017-01-01

    Full Text Available We report a case of mutilating keratoderma with alopecia and keratoses follicularis spinulosa decalvans (KFSD, which was initially diagnosed as ectodermal dysplasia and Olmsted syndrome but was revisited as a case of X-linked Olmsted (XLO syndrome. We focus on this uncommon entity (XLO to highlight the differentials of alopecia with palmoplantar keratoderma.

  7. Study on correspondence between prescription and syndrome and the essence of phlegm and blood stasis syndrome in coronary heart disease based on metabonomics.

    Science.gov (United States)

    Lu, Xiao-yan; Xu, Hao; Li, Geng; Zhao, Tie

    2014-01-01

    Studying the essence of a syndrome has been a key challenge in the field of Chinese medicine. Until now, due to limitations of the methods available, the progress towards understanding such complicated systems has been slow. Metabonomics encompasses the dynamics, composition and analysis of metabolites, enabling the observation of changes in the metabolic network of the human body associated with disease. Being from the point of view of the whole organism, metabonomics provides an opportunity to study the essence of a syndrome to an unprecedented level. Phlegm and blood stasis syndrome is the main syndrome associated with coronary heart disease (CHD), which bring difficulties in clinical treatment due to difficulties associated with differentiation of symptoms and signs. The fundamental differences of material between the two also need to be interpreted. The authors consider that we can use the method of combining a disease (in this case CHD) with associated syndromes (phlegm and blood stasis syndrome) to select patients with phlegm and blood stasis syndrome of CHD, and utilize metabonomics to explore the essence of the syndrome by difference analysis of metabolite spectra. Meanwhile, we can study the syndrome in CM, observe the change regularity of metabolism spectra after the treatment of corresponding and non-corresponding prescription and syndrome, in order to validate the material fundament in the progress of syndrome formation and their differences. This will not only have great significance in enhancing the ability to identify syndrome of phlegm and blood stasis in CHD and to establish the clinical curative criteria, but will also offer a new approach of studying the essence for a syndrome using metabonomics.

  8. Heart failure: a weak link in CHA2 DS2 -VASc.

    Science.gov (United States)

    Friberg, Leif; Lund, Lars H

    2018-02-15

    In atrial fibrillation, stroke risk is assessed by the CHA 2 DS 2 -VASc score. Heart failure is included in CHA 2 DS 2 -VASc, but the rationale is uncertain. Our objective was to test if heart failure is a risk factor for stroke, independent of other risk factors in CHA 2 DS 2 -VASc. We studied 300 839 patients with atrial fibrillation in the Swedish Patient Register 2005-11. Three definitions of heart failure were used in order to assess the robustness of the results. In the main analysis, heart failure was defined by a hospital discharge diagnosis of heart failure as first or second diagnosis and a filled prescription of a diuretic within 3 months before index + 30 days. The second definition counted first or second discharge diagnoses failure diagnosis in open or hospital care before index + 30 days. Associations with outcomes were assessed with multivariable Cox analyses. Patients with heart failure were older (80.5 vs. 74.0 years, P failure and 3.1% without. Adjustment for the cofactors in CHA 2 DS 2 -VASc eradicated the difference in stroke risk between patients with and without heart failure (hazard ratio 1.01 with 95% confidence interval 0.96-1.05). The area under the receiver operating characteristic curve for CHA 2 DS 2 -VASc was not improved by points for heart failure. A clinical diagnosis of heart failure was not an independent risk factor for stroke in patients with atrial fibrillation, which may have implications for anticoagulation management. © 2018 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of the European Society of Cardiology.

  9. Correlation between sleep apnea syndrome and heart failure depending on ejection fraction

    Directory of Open Access Journals (Sweden)

    Carmen Loredana Ardelean

    2016-12-01

    Full Text Available OBJECTIVES The aim of this study was to analyze the correlations between sleep apnea syndrome(SAS and heart failure(HF in patients with preserved or reduced ejection fraction(EF. MATERIALS AND METHODS We evaluated 51 patients with suspected SAS and HF in sleep lab in Timișoara. General data was collected using sleep questionnaires, anthropometric measurements, somnography for apnea-hypopnea index, oxygen desaturation index, echocardiographic data, comorbidities and lab tests. RESULTS Creatinine -1.1±0.2 vs 1.4±0.7, p=0.05; stroke-23% vs 4%, p=0.04; aortic insufficiency-11.5% vs 36%, p=0.04; tricuspid insufficiency-46.1% vs 80%, p=0.01. Differences between groups regarding anthropometric measurements, somnographic index, lipidic profile were not statistically significant.. CONCLUSIONS Patients with SAS-IC with preserved EF have a higher risk of stroke events. Patients with IC with EF<50% had a significantly increased risk of developing a life-long chronic kidney disease. The SAS-IC population with low EF is at a higher risk of developing aortic and tricuspid insufficiency. REFERENCES 1. Douglas T. Sleep Apnea and Heart Failure. Part1: Obstructive Sleep Apnea. Circulation.2003.107:1671-1678. 2. Takatoshi K, Douglas TB. Obstructive Sleep Apnea and Heart Failure-Pathophysiologic and Therapeutic Implication. Journal of the American College of Cardiology. 2011; 57:doi: 10.1016/j.jacc.2010.08.627 3. Ferrier K, Campbell A, Yee B et al. Sleepdisordered breathing occurs frequently in stable outpatients with congestive heart failure. Chest. 2005;128:2116–2122.

  10. Heart rate recovery improves after weight loss in overweight and obese women with polycystic ovary syndrome.

    Science.gov (United States)

    Thomson, Rebecca L; Buckley, Jonathan D; Noakes, Manny; Clifton, Peter M; Norman, Robert J; Brinkworth, Grant D

    2010-03-01

    To determine the effects of weight loss on heart rate recovery (HRR) in overweight women with polycystic ovary syndrome (PCOS). A 10-week prospective clinical intervention. Clinical research unit. Fifty-seven overweight and obese women with PCOS (age: 29.8 +/- 0.8 years; body mass index [BMI] 36.2 +/- 0.7 kg/m(2)). A dietary plan of 5-6 MJ/day ( approximately 30% energy restricted). Heart rate recovery (defined as the reduction in heart rate after 1 minute from peak heart rate after a graded treadmill test to exhaustion), weight, waist circumference, blood pressure, glucose, insulin, homeostasis model assessment of insulin resistance, and sex steroids before and after the intervention. The mean percentage of weight loss was (-6.7 +/- 0.4%). There were significant reductions in waist circumference (-6.9 +/- 0.6 cm), blood pressure (-4.9/-2.5 +/- 1.2/1.2 mm Hg), fasting insulin (-3.4 +/- 0.7 mU/L), fasting glucose (-0.17 +/- 0.05 mmol/L), homeostasis model assessment of insulin resistance (-0.43 +/- 0.09), T (-0.38 +/- 0.07 nmol/L), free androgen index (-2.86 +/- 0.58), and an increase in sex hormone-binding globulin [SHBG] (5.86 +/- 1.12 nmol/L). The HRR improved from 30.9 +/- 1.1 to 38.0 +/- 1.1 beats/min and that was related to the reduction in body weight (r = -0.34) and waist circumference (r = -0.27). Weight loss in overweight and obese women with PCOS is associated with improvements in HRR, which suggests improved autonomic function. This highlights the importance of weight loss to reduce the cardiovascular disease risk in these women. Crown Copyright 2010. Published by Elsevier Inc. All rights reserved.

  11. Impact of cardiac rehabilitation on metabolic syndrome in Iranian patients with coronary heart disease: the role of obesity.

    Science.gov (United States)

    Kabir, Ali; Sarrafzadegan, Nizal; Amini, Afshin; Aryan, Reza Safi; Kerahroodi, Fahimeh Habibi; Rabiei, Katayoun; Taghipour, Hamid Reza; Moghimi, Mehrdad

    2012-01-01

    Due to high prevalence of metabolic syndrome (MetS) and coronary heart disease (CHD) in Iran, and their mutual relationship, we evaluated how comprehensive cardiac rehabilitation (CR) can affect MetS in patients with CHD. In this study (1998-2003), we evaluated 547 patients with CHD undergoing comprehensive CR. Cases with MetS decreased from 42.8% to 33.3% after CR program (p < .001). Decrease in high fasting plasma glucose, triglyceridemia, systolic and diastolic blood pressures, and increase in HDL cholesterol, functional capacity, and left ventricular ejection fraction was more prominent in the "MetS but not obese" group. However, total cholesterol, low-density lipoprotein, weight, body mass index, and waist circumference showed a greater decrease in groups with obesity. Cardiac rehabilitation is an effective treatment of MetS, particularly in the absence of obesity. This represents an additional argument for the prevention of obesity and the linked insulin resistance. © 2012 Association of Rehabilitation Nurses.

  12. Identifying potential functional impact of mutations and polymorphisms: Linking heart failure, increased risk of arrhythmias and sudden cardiac death.

    Directory of Open Access Journals (Sweden)

    BENOIT eJAGU

    2013-09-01

    Full Text Available Researchers and clinicians have discovered several important concepts regarding the mechanisms responsible for increased risk of arrhythmias, heart failure and sudden cardiac death. One major step in defining the molecular basis of normal and abnormal cardiac electrical behaviour has been the identification of single mutations that greatly increase the risk for arrhythmias and sudden cardiac death by changing channel-gating characteristics. Indeed, mutations in several genes encoding ion channels, such as SCN5A, which encodes the major cardiac Na+ channel, have emerged as the basis for a variety of inherited cardiac arrhythmias such as long QT syndrome, Brugada syndrome, progressive cardiac conduction disorder, sinus node dysfunction or sudden infant death syndrome. In addition, genes encoding ion channel accessory proteins, like anchoring or chaperone proteins, which modify the expression, the regulation of endocytosis and the degradation of ion channel α-subunits have also been reported as susceptibility genes for arrhythmic syndromes. The regulation of ion channel protein expression also depends on a fine-tuned balance among different other mechanisms, such as gene transcription, RNA processing, post-transcriptional control of gene expression by miRNA, protein synthesis, assembly and post-translational modification and trafficking.

  13. Comparative cardiac pathological changes of Atlantic salmon (Salmo salar L.) affected with heart and skeletal muscle inflammation (HSMI), cardiomyopathy syndrome (CMS) and pancreas disease (PD)

    DEFF Research Database (Denmark)

    Yousaf, Muhammad Naveed; Koppang, Erling Olaf; Skjødt, Karsten

    2013-01-01

    The heart is considered the powerhouse of the cardiovascular system. Heart and skeletal muscle inflammation (HSMI), cardiomyopathy syndrome (CMS) and pancreas disease (PD) are cardiac diseases of marine farmed Atlantic salmon (Salmo salar) which commonly affect the heart in addition to the skeletal...

  14. Acute heart failure with and without acute coronary syndrome: clinical correlates and prognostic impact (From the HEARTS registry).

    Science.gov (United States)

    AlFaleh, Hussam; Elasfar, Abdelfatah A; Ullah, Anhar; AlHabib, Khalid F; Hersi, Ahmad; Mimish, Layth; Almasood, Ali; Al Ghamdi, Saleh; Ghabashi, Abdullah; Malik, Asif; Hussein, Gamal A; Al-Murayeh, Mushabab; Abuosa, Ahmed; Al Habeeb, Waleed; Kashour, Tarek S

    2016-05-20

    Little is know about the outcomes of acute heart failure (AHF) with acute coronary syndrome (ACS-AHF), compared to those without ACS (NACS-AHF). We conducted a prospective registry of AHF patients involving 18 hospitals in Saudi Arabia between October 2009 and December 2010. In this sub-study, we compared the clinical correlates, management and hospital course, as well as short, and long-term outcomes between AHF patients with and without ACS. Of the 2609 AHF patients enrolled, 27.8 % presented with ACS. Compared to NACS-AHF patients, ACS-AHF patients were more likely to be old males (Mean age = 62.7 vs. 60.8 years, p = 0.003, and 73.8 % vs. 62.7 %, p coronary angiography and had higher prevalence of multi-vessel coronary artery disease (p < 0.001 for all comparisons). The unadjusted hospital and one-month mortality were higher in ACS-AHF patients (OR = 1.6 (1.2-2.2), p = 0.003 and 1.4 (1.0-1.9), p = 0.026 respectively). A significant interaction existed between the level of left ventricular ejection fraction and ACS-AHF status. After adjustment, ACS-AHF status was only significantly associated with hospital mortality (OR = 1.6 (1.1-2.4), p = 0.019). The three-years survival following hospital discharge was not different between the two groups. AHF patients presenting with ACS had worse hospital prognosis, and an equivalent long-term survival compared to AHF patients without ACS. These findings underscore the importance of timely recognition and management of AHF patients with concomitant ACS given their distinct presentation and underlying pathophysiology compared to other AHF patients.

  15. Paradoxical dissociation between heart rate and heart rate variability following different modalities of exercise in individuals with metabolic syndrome: The RESOLVE study.

    Science.gov (United States)

    Boudet, Gil; Walther, Guillaume; Courteix, Daniel; Obert, Philippe; Lesourd, Bruno; Pereira, Bruno; Chapier, Robert; Vinet, Agnès; Chamoux, Alain; Naughton, Geraldine; Poirier, Paul; Dutheil, Frédéric

    2017-02-01

    Aims To analyse the effects of different modalities of exercise training on heart rate variability (HRV) in individuals with metabolic syndrome (MetS). Methods and results Eighty MetS participants (aged 50-70 years) were housed and managed in an inpatient medical centre for 21 days, including weekends. Physical activity and food intake/diet were intensively monitored. Participants were randomly assigned into three training groups, differing only by intensity of exercise: moderate-endurance-moderate-resistance ( re), high-resistance-moderate-endurance ( Re), and moderate-resistance-high-endurance ( rE). HRV was recorded before and after the intervention by 24-hour Holter electrocardiogram. Although mean 24-hour heart rate decreased more in Re than re (-11.6 ± 1.6 vs. -4.8 ± 2.1%; P = 0.010), low frequency/high frequency decreased more in re than Re (-20.4 ± 5.5% vs. + 20.4 ± 9.1%; P = 0.002) and rE (-20.4 ± 5.5% vs. -0.3 ± 11.1%; P = 0.003). Very low frequency increased more in Re than re (+121.2 ± 35.7 vs. 42.9 ± 11.3%; P = 0.004). For all HRV parameters, rE ranged between re and Re values. Low frequency/high frequency changes were linked with visceral fat loss only in re (coefficient 5.9, 95% CI 1.9-10.0; P = 0.004). By day 21, HRV parameters of MetS groups (heart rate -8.6 ± 1.0%, standard deviation of R-R intervals + 34.0 ± 6.6%, total power + 63.3 ± 11.1%; P < 0.001) became closer to values of 50 aged-matched healthy controls. Conclusions A 3-week residential programme with intensive volumes of physical activity (15-20 hours per week) enhanced HRV in individuals with MetS. Participants with moderate intensity of training had greater improvements in sympathovagal balance, whereas those with high intensity in resistance training had greater decreases in heart rate and greater increases in very low frequency. Modality-specific relationships were observed between enhanced HRV

  16. Stress state during fixation determines susceptibility to fatigue-linked biodegradation in bioprosthetic heart valve materials.

    Science.gov (United States)

    Margueratt, Sean D; Lee, J Michael

    2002-01-01

    Mechanical loading contributes to the structural deterioration of bioprosthetic heart valves. The influence of stress state during fixation may play a substantial role in their failure, linking fatigue damage caused by buckling and tension and the enzymatic degradation of glutaraldehyde-crosslinked collagen. Bovine pericardia were obtained immediately postmortem and 100 mm x 15 mm samples were cut in the base-to-apex direction. Half the samples were subjected to a uniaxial tensile stress of 250 kPa and half remained unloaded during a crosslinking treatment in 0.5% glutaraldehyde. Tissue samples were rinsed and cut into 16 mm x 4 mm test strips. Half of these strips were exposed to cyclic compressive buckling and alternating tension at 30 Hz for 20 million cycles (approx. 7.5 days) using a custom-built multi-sample fatigue system. Fatigue-damaged and non-damaged samples were subsequently incubated at 37 C for 48 hrs in: (i) Type I bacterial collagenase (20 U/ml) buffered in 0.05 M Tris, 10 mM CaCl2 2H2O (pH 7.4) or (ii) 0.05 M Tris buffer (pH 7.4) only. In both cases, the samples were loaded sinusoidally between 40 and 80 g using a previously described microtensile culture system. Tissue removed from the bath was rinsed in 0.1 M EDTA solution and mounted in a servo-hydraulic mechanical testing system (MTS). Ultimate tensile strength (UTS), maximum tissue modulus, and fracture strain were determined. The percent collagen solubilized was assessed by a colourmetric hydroxyproline assay of the enzyme bath and tissue sample. All data were analyzed by analysis of variance (ANOVA). The results confirmed the synergy between fatigue damage and collagenase proteolysis in these materials; however, there were no significant differences in this effect between simple fixation and stress-fixation up to 20 million cycles. There were significant decreases in the mechanical properties and an increase in the amount of collagen solubilized with increased exposure to fatigue cycling.

  17. Clinical Characteristics of Down Syndrome Children With Congenital Heart Disease in a Developing Country

    Directory of Open Access Journals (Sweden)

    Mottaghi Moghaddam

    2015-11-01

    Full Text Available Background Down syndrome (DS is the most common chromosomal abnormality in newborns and is associated with other congenital malformations and health problems. The features of Down syndrome differ according to ethnicity and geographic region. Objectives The main aim was to assess the clinical characteristics of DS patients in a referral pediatric cardiology department. Patients and Methods In this cross-sectional study, we assessed the clinical characteristics of children with Down syndrome and heart defects in an educational hospital over 11 years (from September 2001 to September 2012 in Iran. All data were collected according to a checklist created by the researchers, which included the clinical information, genetic characteristics, cardiac and non-cardiac co-existing diseases, and parental variables of the children. An independent t-test and a chi-square test were used to compare qualitative variables such as birth weight and age of diagnosis. P < 0.05 was considered statistically significant. Results 100 patients with Down syndrome and congenital heart disease were evaluated; 52 were female (52% and 48 were male (48%. The average birth weight of the subjects was 2745 ± 523 (mean ± SD grams. The mean age of the patients’ mothers was 32 ± 6 years, and the mean age of the patients’ fathers was 36 ± 6 years. Chromosomal analysis was performed for 61 patients, 60 of whom had free trisomy (98.4%, one of whom had translocation (1.6%, and none of whom had a mosaic pattern of chromosomal abnormality. The parents of 33 the patients in this study were consanguineous. All patients had cardiac disorders, but non-cardiac disorder also was recorded in 37 patients (37%. The most common non-cardiac disorder in patients was hypothyroidism, and the second most common was gastrointestinal problems. Conclusions Parents were blood relatives in 33 (33% of the patient cases, which is a very high rate. Therefore, non-random mating is an important issue in

  18. X-linked cataract and Nance-Horan syndrome are allelic disorders.

    Science.gov (United States)

    Coccia, Margherita; Brooks, Simon P; Webb, Tom R; Christodoulou, Katja; Wozniak, Izabella O; Murday, Victoria; Balicki, Martha; Yee, Harris A; Wangensteen, Teresia; Riise, Ruth; Saggar, Anand K; Park, Soo-Mi; Kanuga, Naheed; Francis, Peter J; Maher, Eamonn R; Moore, Anthony T; Russell-Eggitt, Isabelle M; Hardcastle, Alison J

    2009-07-15

    Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Protein truncation mutations in a novel gene (NHS) have been identified in patients with this syndrome. We previously mapped X-linked congenital cataract (CXN) in one family to an interval on chromosome Xp22.13 which encompasses the NHS locus; however, no mutations were identified in the NHS gene. In this study, we show that NHS and X-linked cataract are allelic diseases. Two CXN families, which were negative for mutations in the NHS gene, were further analysed using array comparative genomic hybridization. CXN was found to be caused by novel copy number variations: a complex duplication-triplication re-arrangement and an intragenic deletion, predicted to result in altered transcriptional regulation of the NHS gene. Furthermore, we also describe the clinical and molecular analysis of seven families diagnosed with NHS, identifying four novel protein truncation mutations and a novel large deletion encompassing the majority of the NHS gene, all leading to no functional protein. We therefore show that different mechanisms, aberrant transcription of the NHS gene or no functional NHS protein, lead to different diseases. Our data highlight the importance of copy number variation and non-recurrent re-arrangements leading to different severity of disease and describe the potential mechanisms involved.

  19. Linking evidence to action on social determinants of health using Urban HEART in the Americas.

    Science.gov (United States)

    Prasad, Amit; Groot, Ana Maria Mahecha; Monteiro, Teofilo; Murphy, Kelly; O'Campo, Patricia; Broide, Emilia Estivalet; Kano, Megumi

    2013-12-01

    To evaluate the experience of select cities in the Americas using the Urban Health Equity Assessment and Response Tool (Urban HEART) launched by the World Health Organization in 2010 and to determine its utility in supporting government efforts to improve health equity using the social determinants of health (SDH) approach. The Urban HEART experience was evaluated in four cities from 2010-2013: Guarulhos (Brazil), Toronto (Canada), and Bogotá and Medellín (Colombia). Reports were submitted by Urban HEART teams in each city and supplemented by first-hand accounts of key informants. The analysis considered each city's networks and the resources it used to implement Urban HEART; the process by which each city identified equity gaps and prioritized interventions; and finally, the facilitators and barriers encountered, along with next steps. In three cities, local governments spearheaded the process, while in the fourth (Toronto), academia initiated and led the process. All cities used Urban HEART as a platform to engage multiple stakeholders. Urban HEART's Matrix and Monitor were used to identify equity gaps within cities. While Bogotá and Medellín prioritized among existing interventions, Guarulhos adopted new interventions focused on deprived districts. Actions were taken on intermediate determinants, e.g., health systems access, and structural SDH, e.g., unemployment and human rights. Urban HEART provides local governments with a simple and systematic method for assessing and responding to health inequity. Through the SDH approach, the tool has provided a platform for intersectoral action and community involvement. While some areas of guidance could be strengthened, Urban HEART is a useful tool for directing local action on health inequities, and should be scaled up within the Region of the Americas, building upon current experience.

  20. Linking evidence to action on social determinants of health using Urban HEART in the Americas

    Directory of Open Access Journals (Sweden)

    Amit Prasad

    2013-12-01

    Full Text Available OBJECTIVE: To evaluate the experience of select cities in the Americas using the Urban Health Equity Assessment and Response Tool (Urban HEART launched by the World Health Organization in 2010 and to determine its utility in supporting government efforts to improve health equity using the social determinants of health (SDH approach METHODS: The Urban HEART experience was evaluated in four cities from 2010-2013: Guarulhos (Brazil, Toronto (Canada, and Bogotá and Medellín (Colombia. Reports were submitted by Urban HEART teams in each city and supplemented by first-hand accounts of key informants. The analysis considered each city's networks and the resources it used to implement Urban HEART; the process by which each city identified equity gaps and prioritized interventions; and finally, the facilitators and barriers encountered, along with next steps RESULTS: In three cities, local governments spearheaded the process, while in the fourth (Toronto, academia initiated and led the process. All cities used Urban HEART as a platform to engage multiple stakeholders. Urban HEART's Matrix and Monitor were used to identify equity gaps within cities. While Bogotá and Medellín prioritized among existing interventions, Guarulhos adopted new interventions focused on deprived districts. Actions were taken on intermediate determinants, e.g., health systems access, and structural SDH, e.g., unemployment and human rights CONCLUSIONS: Urban HEART provides local governments with a simple and systematic method for assessing and responding to health inequity. Through the SDH approach, the tool has provided a platform for intersectoral action and community involvement. While some areas of guidance could be strengthened, Urban HEART is a useful tool for directing local action on health inequities, and should be scaled up within the Region of the Americas, building upon current experience.

  1. Marfan syndrome is closely linked to a marker on chromosome 15q1. 5 r arrow q2. 1

    Energy Technology Data Exchange (ETDEWEB)

    Tsipouras, P.; Sarfarazi, M.; Devi, A. (Univ. of Connecticut Health Center, Farmington (United States)); Weiffenbach, B. (Collaborative Research, Inc., Waltham, MA (United States)); Boxer, M. (Ninewells Hospital and Medical School, Dundee (Scotland))

    1991-05-15

    Marfan syndrome is a systemic disorder of the connective tissue inherited as an autosomal dominant trait. The disorder imparts significant morbidity and martality. The etiology of the disorder remains elusive. A recent study localized the gene for Marfan syndrome on chromosome 15. The authors present data showing that marker D15S48 is genetically linked to Marfan syndrome. Pairwise linkage analysis gave a maximum lod (logarithm of odds) score of Z = 11.78 at {theta} = 0.02. Furthermore our data suggest that the Marfan syndrome locus is possibly flanked on either side by D15S48 and D15S49.

  2. Physician counseling, informed consent and parental decision making for infants with hypoplastic left-heart syndrome.

    Science.gov (United States)

    Paris, J J; Moore, M P; Schreiber, M D

    2012-10-01

    Until the development in 1980 by William Norwood of a staged palliative surgical procedure for hypoplastic left heart syndrome (HPLHS), there was no treatment for that condition. With medical developments in the 1980s, parents had the option of the Norwood procedure, transplantation or comfort care for a child born with HPLHS. With an improvement in the survival rate for the Norwood procedure from an initial 30% to now better than 80%, some physicians believe that comfort care should no longer be an option. If, however, medically sophisticated parents, who know the neurological and motor skills impairments that accompany HPLHS, object to the surgery, they are allowed to opt for comfort care. This two-pronged approach to medical treatment seems to violate the norms on equity and fairness in the care of the patient. Parents need to be informed about long-term neurological and motor skill development as well as survival rates to give informed consent.

  3. Systems biological approach to investigate the lack of familial link between Down's Syndrome & Neural Tube Disorders.

    Science.gov (United States)

    Ragunath, Pk; Abhinand, Pa

    2013-01-01

    Systems Biology involves the study of the interactions of biological systems and ultimately their functions. Down's syndrome (DS) is one of the most common genetic disorders which are caused by complete, or occasionally partial, triplication of chromosome 21, characterized by cognitive and language dysfunction coupled with sensory and neuromotor deficits. Neural Tube Disorders (NTDs) are a group of congenital malformations of the central nervous system and neighboring structures related to defective neural tube closure during the first trimester of pregnancy usually occurring between days 18-29 of gestation. Several studies in the past have provided considerable evidence that abnormal folate and methyl metabolism are associated with onset of DS & NTDs. There is a possible common etiological pathway for both NTDs and Down's syndrome. But, various research studies over the years have indicated very little evidence for familial link between the two disorders. Our research aimed at the gene expression profiling of microarray datasets pertaining to the two disorders to identify genes whose expression levels are significantly altered in these conditions. The genes which were 1.5 fold unregulated and having a p-value disorders were recognized and over representation analysis was carried out for each of the constituent genes. The comprehensive manual analysis of these genes yields a hypothetical understanding of the lack of familial link between DS and NTDs. There were no genes involved with folic acid present in the dense cliques. Only - CBL, EGFR genes were commonly present, which makes the allelic variants of these genes - good candidates for future studies regarding the familial link between DS and NTDs. NTD - Neural Tube Disorders, DS - Down's Syndrome, MTHFR - Methylenetetrahydrofolate reductase, MTRR- 5 - methyltetrahydrofolate-homocysteine methyltransferase reductase.

  4. Chocolate consumption and prevalence of metabolic syndrome in the NHLBI Family Heart Study.

    Science.gov (United States)

    Tokede, Oluwabunmi A; Ellison, Curtis R; Pankow, James S; North, Kari E; Hunt, Steven C; Kraja, Aldi T; Arnett, Donna K; Djoussé, Luc

    2012-08-01

    Previous studies have suggested that cocoa products, which are rich sources of flavonoids, may lower blood pressure, serum cholesterol, fasting blood glucose and improve endothelial function. However, it is unclear whether consumption of cocoa products including chocolate influences the risk of metabolic syndrome (MetS). In a cross-sectional design, we sought to examine the association between chocolate consumption and the prevalence of MetS. We studied 4098 participants from the National Heart, Lung, and Blood Institute (NHLBI) Family Heart Study aged 25-93 years. Chocolate consumption was assessed using a semi-quantitative food-frequency questionnaire. MetS was defined using the NCEP III criteria. Generalized estimating equations were used to estimate prevalence odds ratios of MetS according to frequency of chocolate intake. Of the 4098 participants (mean age 51.7 y) included in the analyses, 2206 (53.8%) were female. The prevalence of metabolic syndrome in our population was 30.2%. Compared with those who did not consume any chocolate, multivariate adjusted odds ratios (95% CI) for MetS were 1.26 (0.94, 1.69), 1.15 (0.85, 1.55), and 0.99 (0.66, 1.51) among women who reported chocolate consumption of 1-3 times/ month, 1-4 times/week, and 5+ times/week, respectively. Corresponding values for men were: 1.13 (0.82, 1.57), 1.02 (0.74, 1.39), and 1.21 (0.79, 1.85). These data do not support an association between chocolate intake and the prevalence of MetS in US adult men and women.

  5. Recovery free of heart failure after acute coronary syndrome and coronary revascularization.

    Science.gov (United States)

    Falkenham, Alec; Saraswat, Manoj K; Wong, Chloe; Gawdat, Kareem; Myers, Tanya; Begum, Jahanara; Buth, Karen J; Haidl, Ian; Marshall, Jean; Légaré, Jean-Francois

    2018-02-01

    Previous studies have examined risk factors for the development of heart failure (HF) subsequent to acute coronary syndrome (ACS). Our study seeks to clarify the clinical variables that best characterize patients who remain free from HF after coronary artery bypass grafting (CABG) surgery for ACS to determine novel biological factors favouring freedom from HF in prospective translational studies. Nova Scotia residents (1995-2012) undergoing CABG within 3 weeks of ACS were included. The primary outcome was freedom from readmission to hospital due to HF. Descriptive statistics were generated, and a Cox proportional hazards model assessed outcome with adjustment for clinical characteristics. Of 11 936 Nova Scotians who underwent isolated CABG, 3264 (27%) had a recent ACS and were included. Deaths occurred in 210 (6%) of subjects prior to discharge. A total of 3054 patients were included in the long-term analysis. During follow-up, HF necessitating readmission occurred in 688 (21%) subjects with a hazard ratio of 12% at 2 years. The adjusted Cox model demonstrated significantly better freedom from HF for younger, male subjects without metabolic syndrome and no history of chronic obstructive pulmonary disease, renal insufficiency, atrial fibrillation, or HF. Our findings have outlined important clinical variables that predict freedom from HF. Furthermore, we have shown that 12% of patients undergoing CABG after ACS develop HF (2 years). Our findings support our next phase in which we plan to prospectively collect blood and tissue specimens from ACS patients undergoing CABG in order to determine novel biological mechanism(s) that favour resolution of post-ACS inflammation. © 2017 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of the European Society of Cardiology.

  6. Viral Heart Disease and Acute Coronary Syndromes - Often or Rare Coexistence?

    Science.gov (United States)

    Pawlak, Agnieszka; Wiligorska, Natalia; Wiligorska, Diana; Frontczak-Baniewicz, Malgorzata; Przybylski, Maciej; Krzyzewski, Rafal; Ziemba, Andrzej; Gil, Robert J

    2018-01-01

    Clinical presentation of viral myocarditis can mimic acute coronary syndrome and making diagnosis of viral heart disease (VHD) may be challenging. The presence of coronary artery disease (CAD) does not always exclude VHD and these entities can coexist. However, the incidence of co-occurrence of CAD and VHD is not precisely known. Moreover, inflammatory process caused by viruses may result in atherosclerotic plaque destabilization. The goal of this work is to summarize the current knowledge about co-occurrence of VHD and CAD. This article presents the importance of inflammatory process in both diseases and helps to understand pathophysiological mechanisms underlying their coexistence. It provides information about making differential diagnosis between these entities, including clinical presentation, noninvasive imaging features and findings in endomyocardial biopsy. Although currently there are no standard therapy strategies in coexistence of VHD and CAD, we present some remarkable aspects of treatment of patients, in whom VHD co-occurs with CAD. Viral heart disease may occur both in patients without and with atherosclerotic plaques in coronary arteries. Destabilization of atherosclerotic plaques in coronary arteries can be facilitated by inflammatory process. Increased inflammatory infiltrates in the coronary lesions of patients with VHD can lead to plaques' instability and consequently trigger acute coronary syndrome. In this article we attempted to present that co-occurrence of VHD and CAD may have therapeutic implications and as specific antiviral treatment is currently available, proper diagnosis and treatment can improve patient's condition and prognosis. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  7. Effects of milk flow on the physiological and behavioural responses to feeding in an infant with hypoplastic left heart syndrome.

    Science.gov (United States)

    Pados, Britt F; Thoyre, Suzanne M; Estrem, Hayley H; Park, Jinhee; Knafl, George J; Nix, Brant

    2017-01-01

    Infants with hypoplastic left heart syndrome often experience difficulty with oral feeding, which contributes to growth failure, morbidity, and mortality. In response to feeding difficulty, clinicians often change the bottle nipple, and thus milk flow rate. Slow-flow nipples have been found to reduce the stress of feeding in other fragile infants, but no research has evaluated the responses of infants with hypoplastic left heart syndrome to alterations in milk flow. The purpose of this study was to evaluate the physiological and behavioural responses of an infant with hypoplastic left heart syndrome to bottle feeding with either a slow-flow (Dr. Brown's Preemie) or a standard-flow (Dr. Brown's Level 2) nipple. A single infant was studied for three feedings: two slow-flow and one standard-flow. Oral feeding, whether with a slow-flow or a standard-flow nipple, was distressing for this infant. During slow-flow feeding, she experienced more coughing events, whereas during standard-flow she experienced more gagging. Disengagement and compelling disorganisation were most common during feeding 3, that is slow-flow, which occurred 2 days after surgical placement of a gastrostomy tube. Clinically significant changes in heart rate, oxygen saturation, and respiratory rate were seen during all feedings. Heart rate was higher during standard-flow and respiratory rate was higher during slow-flow. Further research is needed to examine the responses of infants with hypoplastic left heart syndrome to oral feeding and to identify strategies that will support these fragile infants as they learn to feed. Future research should evaluate an even slower-flow nipple along with additional supportive feeding strategies.

  8. The Influence of Epicardial Fat and Nonalcoholic Fatty Liver Disease on Heart Rate Recovery in Metabolic Syndrome.

    Science.gov (United States)

    Cho, Kyoung Im; Jo, Eun Ah; Cho, Sang Hoon; Kim, Bo Hyun

    2017-06-01

    Epicardial adipose tissues reflecting visceral fat accumulations of the heart are associated with metabolic syndrome (MetS) and can be a predictor of other cardiometabolic diseases. It can adversely influence autonomic nervous system (ANS) of heart. Heart rate recovery (HRR) is an easy method for measuring ANS dysfunction. The purpose of this study was to determine whether epicardial fat thickness (EFT) and nonalcoholic fatty liver disease (NAFLD) are related to HRR in patients with MetS. We enrolled 772 consecutive patients from a health-screening center who underwent abdominal ultrasonography, treadmill test, and cardiac echocardiography. EFT using echocardiography and HRR by symptom-limited exercise testing was assessed. According to the presence of MetS and NAFLD, patients were classified into the four groups. In NAFLD patients, EFT was higher and HRR was lower, especially in patients with MetS and NAFLD, compared to non-MetS participants without NAFLD (MetS with NAFLD, EFT 7.5 ± 4.4 mm, HRR 31.9 ± 12.7; MetS without NAFLD, EFT 4.9 ± 3.0 mm, HRR 39.5 ± 11.1; non-MetS with NAFLD, EFT 5.9 ± 3.6 mm, HRR 36.6 ± 12.7; and non-MetS without NAFLD, EFT 4.4 ± 3.5 mm, HRR 43.4 ± 14.5, p < 0.001). Patients with severe liver steatosis (LS) showed significantly higher EFT than those with moderate LS (14.2 ± 2.0 vs. 7.5 ± 3.1 mm, P < 0.001), and EFT was positively correlated with severity of LS (r = 0.431, P < 0.001). HRR was significantly correlated with EFT (r = -0.386, P < 0.001) and severity of LS (r = -0.324, P < 0.001). EFT and NAFLD were significantly correlated with HRR in patients with MetS and they may be highly related to increased cardiovascular risk. These results suggest a cross-link among EFT, NAFLD, and cardiac autonomic dysfunction in patients with MetS.

  9. Immotile cilia syndrome: A recombinant family at HLA-linked gene locus

    Energy Technology Data Exchange (ETDEWEB)

    Gasparini, P.; Grifa, A.; Oggiano, N.; Fabbrizzi, E.; Giorgi, P.L. [Univsita di Ancona (Israel)

    1994-02-15

    The immotile-cilia syndrome (ICS) is an autosomal recessive trait of congenital dismobility or even complete immobility of cilia in the ciliated epithelia (MIM 244400). Recurrent upper respiratory infections in early childhood are the most common clinical findings. Recently a disease locus was mapped by sib pair analysis in two unrelated families on 6p tightly linked to HLA class II loci, such as DR and DQ. In order to confirm this assignment and to test the presence of possible heterogeneity, the authors analyzed several ICS families utilizing DNA makers of HLA class II region. Here they report the identification of a recombinant family at this locus. 3 refs., 1 fig.

  10. Mortality-related resource utilization in the inpatient care of hypoplastic left heart syndrome.

    Science.gov (United States)

    Danford, David A; Karels, Quentin; Kulkarni, Aparna; Hussain, Aysha; Xiao, Yunbin; Kutty, Shelby

    2015-10-22

    Quantifying resource utilization in the inpatient care of congenital heart diease is clinically relevant. Our purpose is to measure the investment of inpatient care resources to achieve survival in hypoplastic left heart syndrome (HLHS), and to determine how much of that investment occurs in hospitalizations that have a fatal outcome, the mortality-related resource utilization fraction (MRRUF). A collaborative administrative database, the Pediatric Health Information System (PHIS) containing data for 43 children's hospitals, was queried by primary diagnosis for HLHS admissions of patients ≤21 years old during 2004-2013. Institution, patient age, inpatient deaths, billed charges (BC) and length of stay (LOS) were recorded. In all, 11,122 HLHS admissions were identified which account for total LOS of 277,027 inpatient-days and $3,928,794,660 in BC. There were 1145 inpatient deaths (10.3%). LOS was greater among inpatient deaths than among patients discharged alive (median 17 vs. 12, p providers and consumers that current practices often result in major resource expenditure for inpatient care of HLHS that does not result in survival to hospital dismissal. They highlight the need for data-driven critical review of standard practices to identify patterns of care associated with success, and to modify approaches objectively.

  11. The Miracle Baby Grows Up: Hypoplastic Left Heart Syndrome in the Adult.

    Science.gov (United States)

    Lewis, Matthew; Rosenbaum, Marlon

    2017-08-01

    Hypoplastic left heart syndrome (HLHS) is characterized by underdevelopment of the mitral valve, left ventricle, and aorta and is ultimately palliated with a single-ventricle repair. Universally fatal in infancy prior to the advent of modern surgical techniques, the majority of HLHS patients will now reach adulthood. However, despite improvements in early survival, the HLHS population continues to face significant morbidity and early mortality. This review delineates common sources of patient morbidity and highlights areas in need of additional research for this growing segment of the adult congenital heart disease population. It has become increasingly clear that palliated adult single ventricle patients, like those with HLHS, face significant life-long morbidity from elevated systemic venous pressures as a consequence of the Fontan procedure. Downstream organ dysfunction secondary to elevated Fontan pressures has the potential to significantly impact long-term management decisions, including strategies of organ allocation. Because of the presence of a morphologic systemic right ventricle, HLHS patients may be at even higher risk than other adult patients with a Fontan. Because the adult HLHS population continues to grow, recognition of common sources of patient morbidity and mortality is becoming increasingly important. A coordinated effort between patients and providers is necessary to address the many remaining areas of clinical uncertainty to help ensure continued improvement in patient prognosis and quality of life.

  12. Initial heart rate and cardiovascular outcomes in patients presenting with acute coronary syndrome.

    Science.gov (United States)

    Asaad, Nidal; El-Menyar, Ayman; AlHabib, Khalid F; Shabana, Adel; Alsheikh-Ali, Alawi A; Almahmeed, Wael; Al Faleh, Hussam; Hersi, Ahmad; Al Saif, Shukri; Al-Motarreb, Ahmed; Sulaiman, Kadhim; Al Nemer, Khalid; Amin, Haitham; Al Suwaidi, Jassim

    2014-06-01

    To assess the impact of on-admission heart rate (HR) in patients presenting with acute coronary syndrome (ACS). Data were collected retrospectively from the second Gulf Registry of Acute Coronary Events. Patients were divided according to their initial HR into: (I: < 60, II: 60-69, III: 70-79, IV: 80-89 and V: ≥ 90 bpm). Patients' characteristics and hospital and one- and 12-month outcomes were analyzed and compared. Among 7939 consecutive ACS patients, groups I to V represented 7%, 13%, 20%, 23.5%, and 37%, respectively. Mean age was higher in groups I and V. Group V were more likely males, diabetic and hypertensive. ST-elevation myocardial infarction was the main presentation in groups I and V. Reperfusion therapies were less likely given to group V. Beta blockers were more frequently prescribed to group III in comparison to groups with higher HR. Groups I and V were associated with worse hospital outcomes. Multivariate analysis showed initial tachycardia as an independent predictor for heart failure (OR 2.2; 95%CI: 1.39-3.32), while bradycardia was independently associated with higher one-month mortality (OR 2.0; 95%CI: 1.04-3.85) CONCLUSION: The majority of ACS patients present with tachycardia. However, low or high HR is a marker of high risk that needs more attention and management.

  13. Obesity and Prader-Willi Syndrome Affect Heart Rate Recovery from Dynamic Resistance Exercise in Youth

    Directory of Open Access Journals (Sweden)

    Diobel M. Castner

    2016-01-01

    Full Text Available Following exercise, heart rate decline is initially driven by parasympathetic reactivation and later by sympathetic withdrawal. Obesity delays endurance exercise heart rate recovery (HRR in both children and adults. Young people with Prader-Willi Syndrome (PWS, a congenital cause for obesity, have shown a slower 60-s endurance exercise HRR compared to lean and obese children, suggesting compromised regulation. This study further evaluated effects of obesity and PWS on resistance exercise HRR at 30 and 60 s in children. PWS (8–18 years and lean and obese controls (8–11 years completed a weighted step-up protocol (six sets x 10 reps per leg, separated by one-minute rest, standardized using participant stature and lean body mass. HRR was evaluated by calculated HRR value (HRRV = difference between HR at test termination and 30 (HRRV30 and 60 (HRRV60 s post-exercise. PWS and obese had a smaller HRRV30 than lean (p < 0.01 for both. Additionally, PWS had a smaller HRRV60 than lean and obese (p = 0.01 for both. Obesity appears to delay early parasympathetic reactivation, which occurs within 30 s following resistance exercise. However, the continued HRR delay at 60 s in PWS may be explained by either blunted parasympathetic nervous system reactivation, delayed sympathetic withdrawal and/or poor cardiovascular fitness.

  14. Tracheostomy Among Infants With Hypoplastic Left Heart Syndrome Undergoing Cardiac Operations: A Multicenter Analysis.

    Science.gov (United States)

    Prodhan, Parthak; Agarwal, Amit; ElHassan, Nahed O; Bolin, Elijah H; Beam, Brandon; Garcia, Xiomara; Gaies, Michael; Tang, Xinyu

    2017-04-01

    Less than 2.7% of infants undergoing congenital heart disease operations have difficulty weaning from invasive mechanical ventilation. In such instances, clinicians may choose to perform tracheostomy. Limited literature has examined tracheostomy placement specifically in infants with hypoplastic left heart syndrome (HLHS). This study evaluated the risk factors for tracheostomy placement in infants with HLHS and examined the outcomes of these infants before their first hospital discharge. This retrospective analysis of the Pediatric Heath Information System data set included infants with HLHS who underwent stage 1 Norwood operation, a hybrid procedure, or heart transplant from 2004 through 2013. We identified 5721 infants with HLHS, and 126 underwent tracheostomy placement. Infants in the tracheostomy group had more morbidities and a higher mortality rate across the study period. Diagnosis of chromosomal abnormalities, anomalies of the trachea and esophagus, larynx, diaphragm and nervous system, bilateral vocal cord paralysis, and necrotizing enterocolitis, and procedures including extracorporeal membrane oxygenation support, cardiac catheterization, and gastrostomy tube were independently associated with tracheostomy placement in the study population. Despite an overall increase in rates of tracheostomy performed in infants with HLHS during the study period, the mortality rate did not improve among tracheostomy patients. Several risk factors were identified in infants with HLHS in whom a tracheostomy was placed during their first hospitalization. Despite an overall increase in rates of tracheostomies during the study period, the mortality rate did not improve among these patients. Appropriate family counseling and thorough preoperative case selection is suggested when discussing possible tracheostomy placement in infants with HLHS. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  15. Changes in left ventricular systolic function in patients with chronic heart failure with preserved ejection fraction and cardiorenal anemic syndrome

    Directory of Open Access Journals (Sweden)

    Vasylenko V.A.

    2015-09-01

    Full Text Available The feature of chronic heart failure (CHF in elderly people is increasing incidence of heart failure with preserved left ventricular ejection fraction (LVEF which is associated with age. Such patients account for almost half of the total number of patients with heart failure. Cardiorenal syndrome (CRS is associated with an increased risk of mortality in patients with CHF. The impact of CRS on the structural and functional condition of the heart in these patients is studied insufficiently. The study involved 103 patients with CHF II-IV NYHA with preserved LVEF (>45% and CRS (hemoglobin <120 g/l and

  16. A Green Algae Mixture of Scenedesmus and Schroederiella Attenuates Obesity-Linked Metabolic Syndrome in Rats

    Science.gov (United States)

    Kumar, Senthil Arun; Magnusson, Marie; Ward, Leigh C.; Paul, Nicholas A.; Brown, Lindsay

    2015-01-01

    This study investigated the responses to a green algae mixture of Scenedesmus dimorphus and Schroederiella apiculata (SC) containing protein (46.1% of dry algae), insoluble fibre (19.6% of dry algae), minerals (3.7% of dry algae) and omega-3 fatty acids (2.8% of dry algae) as a dietary intervention in a high carbohydrate, high fat diet-induced metabolic syndrome model in four groups of male Wistar rats. Two groups were fed with a corn starch diet containing 68% carbohydrates as polysaccharides, while the other two groups were fed a diet high in simple carbohydrates (fructose and sucrose in food, 25% fructose in drinking water, total 68%) and fats (saturated and trans fats from beef tallow, total 24%). High carbohydrate, high fat-fed rats showed visceral obesity with hypertension, insulin resistance, cardiovascular remodelling, and nonalcoholic fatty liver disease. SC supplementation (5% of food) lowered total body and abdominal fat mass, increased lean mass, and attenuated hypertension, impaired glucose and insulin tolerance, endothelial dysfunction, infiltration of inflammatory cells into heart and liver, fibrosis, increased cardiac stiffness, and nonalcoholic fatty liver disease in the high carbohydrate, high fat diet-fed rats. This study suggests that the insoluble fibre or protein in SC helps reverse diet-induced metabolic syndrome. PMID:25875119

  17. ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Iwase, Shigeki; Xiang, Bin; Ghosh, Sharmistha; Ren, Ting; Lewis, Peter W.; Cochrane, Jesse C.; Allis, C. David; Picketts, David J.; Patel, Dinshaw J.; Li, Haitao; Shi, Yang (Harvard-Med); (Ottawa Hosp.); (MSKCC); (Rockefeller); (CH-Boston); (Tsinghua); (Mass. Gen. Hosp.)

    2011-07-19

    ATR-X (alpha-thalassemia/mental retardation, X-linked) syndrome is a human congenital disorder that causes severe intellectual disabilities. Mutations in the ATRX gene, which encodes an ATP-dependent chromatin-remodeler, are responsible for the syndrome. Approximately 50% of the missense mutations in affected persons are clustered in a cysteine-rich domain termed ADD (ATRX-DNMT3-DNMT3L, ADD{sub ATRX}), whose function has remained elusive. Here we identify ADD{sub ATRX} as a previously unknown histone H3-binding module, whose binding is promoted by lysine 9 trimethylation (H3K9me3) but inhibited by lysine 4 trimethylation (H3K4me3). The cocrystal structure of ADD{sub ATRX} bound to H3{sub 1-15}K9me3 peptide reveals an atypical composite H3K9me3-binding pocket, which is distinct from the conventional trimethyllysine-binding aromatic cage. Notably, H3K9me3-pocket mutants and ATR-X syndrome mutants are defective in both H3K9me3 binding and localization at pericentromeric heterochromatin; thus, we have discovered a unique histone-recognition mechanism underlying the ATR-X etiology.

  18. ATRX ADD Domain Links an Atypical Histone Methylation Recognition Mechanism to Human Mental-Retardation Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    S Iwase; B Xiang; S Ghosh; T Ren; P Lewis; J Cochrane; C Allis; D Picketts; D Patel; et al.

    2011-12-31

    ATR-X (alpha-thalassemia/mental retardation, X-linked) syndrome is a human congenital disorder that causes severe intellectual disabilities. Mutations in the ATRX gene, which encodes an ATP-dependent chromatin-remodeler, are responsible for the syndrome. Approximately 50% of the missense mutations in affected persons are clustered in a cysteine-rich domain termed ADD (ATRX-DNMT3-DNMT3L, ADD{sub ATRX}), whose function has remained elusive. Here we identify ADD{sub ATRX} as a previously unknown histone H3-binding module, whose binding is promoted by lysine 9 trimethylation (H3K9me3) but inhibited by lysine 4 trimethylation (H3K4me3). The cocrystal structure of ADD{sub ATRX} bound to H3{sub 1-15}K9me3 peptide reveals an atypical composite H3K9me3-binding pocket, which is distinct from the conventional trimethyllysine-binding aromatic cage. Notably, H3K9me3-pocket mutants and ATR-X syndrome mutants are defective in both H3K9me3 binding and localization at pericentromeric heterochromatin; thus, we have discovered a unique histone-recognition mechanism underlying the ATR-X etiology.

  19. Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX syndrome: a paradigm of immunodeficiency with autoimmunity

    Directory of Open Access Journals (Sweden)

    Federica eBarzaghi

    2012-07-01

    Full Text Available Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX syndrome is a rare monogenic primary immunodeficiency (PID due to mutations of FOXP3, a key transcription factor for naturally occurring (n regulatory T (Treg cells. The dysfunction of Treg cells is the main pathogenic event leading to the multi-organ autoimmunity that characterizes IPEX syndrome, a paradigm of genetically determined PID with autoimmunity. IPEX has a severe early onset and can become rapidly fatal within the first year of life regardless of the type and site of the mutation. The initial presenting symptoms are severe enteritis and/or type 1 diabetes mellitus, alone or in combination with eczema and elevated serum IgE. Other autoimmune symptoms, such as hypothyroidism, cytopenia, hepatitis, nephropathy, arthritis, and alopecia, can develop in patients who survive the initial acute phase.The current therapeutic options for IPEX patients are limited. Supportive and replacement therapies combined with pharmacological immunosuppression are required to control symptoms at onset. However, these procedures can allow only a reduction of the clinical manifestations without a permanent control of the disease. The only known effective cure for IPEX syndrome is haematopoietic stem cell transplantation, but it is always limited by the availability of a suitable donor and the lack of specific guidelines for bone marrow transplant in the context of this disease.This review aims to summarize the clinical histories and genomic mutations of the IPEX patients described in the literature to date. We will focus on the clinical and immunological features that allow differential diagnosis of IPEX syndrome and distinguish it from other PID with autoimmunity. The efficacy of the current therapies will be reviewed, and possible innovative approaches, based on the latest highlights of the pathogenesis to treat this severe primary autoimmune disease of childhood, will be discussed.

  20. Galectin-3: A Link between Myocardial and Arterial Stiffening in Patients with Acute Decompensated Heart Failure?

    Science.gov (United States)

    Lala, Radu Ioan; Darabantiu, Dan; Pilat, Luminita; Puschita, Maria

    2016-02-01

    Heart failure is accompanied by abnormalities in ventricular-vascular interaction due to increased myocardial and arterial stiffness. Galectin-3 is a recently discovered biomarker that plays an important role in myocardial and vascular fibrosis and heart failure progression. The aim of this study was to determine whether galectin-3 is correlated with arterial stiffening markers and impaired ventricular-arterial coupling in decompensated heart failure patients. A total of 79 inpatients with acute decompensated heart failure were evaluated. Serum galectin-3 was determined at baseline, and during admission, transthoracic echocardiography and measurements of vascular indices by Doppler ultrasonography were performed. Elevated pulse wave velocity and low arterial carotid distensibility are associated with heart failure in patients with preserved ejection fraction (p = 0.04, p = 0.009). Pulse wave velocity, carotid distensibility and Young's modulus did not correlate with serum galectin-3 levels. Conversely, raised galectin-3 levels correlated with an increased ventricular-arterial coupling ratio (Ea/Elv) p = 0.047, OR = 1.9, 95% CI (1.0‑3.6). Increased galectin-3 levels were associated with lower rates of left ventricular pressure rise in early systole (dp/dt) (p=0.018) and raised pulmonary artery pressure (p = 0.046). High galectin-3 levels (p = 0.038, HR = 3.07) and arterial pulmonary pressure (p = 0.007, HR = 1.06) were found to be independent risk factors for all-cause mortality and readmissions. This study showed no significant correlation between serum galectin-3 levels and arterial stiffening markers. Instead, high galectin-3 levels predicted impaired ventricular-arterial coupling. Galectin-3 may be predictive of raised pulmonary artery pressures. Elevated galectin-3 levels correlate with severe systolic dysfunction and together with pulmonary hypertension are independent markers of outcome.

  1. Bad marriage, broken heart? Age and gender differences in the link between marital quality and cardiovascular risks among older adults.

    Science.gov (United States)

    Liu, Hui; Waite, Linda

    2014-12-01

    Working from a life course perspective, we develop hypotheses about age and gender differences in the link between marital quality and cardiovascular risk and test them using data from the first two waves of the National Social Life, Health, and Aging Project. The analytic sample includes 459 married women and 739 married men (aged 57-85 in the first wave) who were interviewed in both waves. We apply Heckman-type corrections for selection bias due to mortality and marriage. Cardiovascular risk is measured as hypertension, rapid heart rate, C-reactive protein, and general cardiovascular events. Results suggest that changes in marital quality and cardiovascular risk are more closely related for older married people than for their younger counterparts and that the link between marital quality and cardiovascular risk is more pronounced among women than among men at older ages. These findings fit with the gendered life course perspective and cumulative disadvantage framework. © American Sociological Association 2014.

  2. Infection and twiddler syndrome in a dog with addison's disease, complete heart block, and wandering artificial pacemakers

    International Nuclear Information System (INIS)

    Hill, R.C.; Buchanan, J.W.

    1990-01-01

    Third degree heart block developed in an obese, 10-year-old Labrador retriever with adrenocortical failure. A permanent transthoracic pacemaker was fitted, but the pulse generator migrated 2 years later, to the ventral part of the flank, where an abscess formed. A new pacemaker was fitted, but also migrated and rotated and a syndrome analogous to Twiddler's syndrome in man developed. After a further 2 years the second pacemaker was located, encapsulated within the right pleural cavity. Culture of the brownish exudate around the pulse generator yielded Pseudomonas sp

  3. Extracorporeal membrane oxygenation in children with heart disease and del22q11 syndrome: a review of the Extracorporeal Life Support Organization Registry.

    Science.gov (United States)

    Prodhan, P; Gossett, J M; Rycus, P T; Gupta, P

    2015-11-01

    The study objective was to evaluate outcomes among children with del22q11 (DiGeorge) syndrome supported on ECMO for heart disease. The ELSO registry database was queried to include all children syndrome and with no del22q11 syndrome. Eighty-eight ECMO runs occurred in children with del22q11 syndrome while 2694 ECMO runs occurred in children without del22q11 syndrome. For patients with heart defects receiving ECMO, del22q11 syndrome did not confer a significant mortality risk or an increased risk of infectious complications before or while on ECMO support. Neither the duration of ECMO nor mechanical ventilation prior to ECMO deployment were prolonged in patients with del22q11 syndrome compared to the controls. © The Author(s) 2015.

  4. Cartilage link protein 1 (Crtl1), an extracellular matrix component playing an important role in heart development.

    Science.gov (United States)

    Wirrig, Elaine E; Snarr, Brian S; Chintalapudi, Mastan R; O'neal, Jessica L; Phelps, Aimee L; Barth, Jeremy L; Fresco, Victor M; Kern, Christine B; Mjaatvedt, Corey H; Toole, Bryan P; Hoffman, Stanley; Trusk, Thomas C; Argraves, W Scott; Wessels, Andy

    2007-10-15

    To expand our insight into cardiac development, a comparative DNA microarray analysis was performed using tissues from the atrioventricular junction (AVJ) and ventricular chambers of mouse hearts at embryonic day (ED) 10.5-11.0. This comparison revealed differential expression of approximately 200 genes, including cartilage link protein 1 (Crtl1). Crtl1 stabilizes the interaction between hyaluronan (HA) and versican, two extracellular matrix components essential for cardiac development. Immunohistochemical studies showed that, initially, Crtl1, versican, and HA are co-expressed in the endocardial lining of the heart, and in the endocardially derived mesenchyme of the AVJ and outflow tract (OFT). At later stages, this co-expression becomes restricted to discrete populations of endocardially derived mesenchyme. Histological analysis of the Crtl1-deficient mouse revealed a spectrum of cardiac malformations, including AV septal and myocardial defects, while expression studies showed a significant reduction in versican levels. Subsequent analysis of the hdf mouse, which carries an insertional mutation in the versican gene (CSPG2), demonstrated that haploinsufficient versican mice display septal defects resembling those seen in Crtl1(-/-) embryos, suggesting that reduced versican expression may contribute to a subset of the cardiac abnormalities observed in the Crtl1(-/-) mouse. Combined, these findings establish an important role for Crtl1 in heart development.

  5. HEART score performance in Asian and Caucasian patients presenting to the emergency department with suspected acute coronary syndrome.

    Science.gov (United States)

    de Hoog, Vince C; Lim, Swee Han; Bank, Ingrid Em; Gijsberts, Crystel M; Ibrahim, Irwani B; Kuan, Win Sen; Ooi, Shirley Bs; Chua, Terrance Sj; Tai, E Shyong; Gao, Fei; Pasterkamp, Gerard; den Ruijter, Hester M; Doevendans, Pieter A; Wildbergh, Thierry X; Mosterd, Arend; Richards, A Mark; de Kleijn, Dominique Pv; Timmers, Leo

    2017-03-01

    The HEART score is a simple and effective tool to predict short-term major adverse cardiovascular events in patients suspected of acute coronary syndrome. Patients are assigned to three risk categories using History, ECG, Age, Risk factors and Troponin (HEART). The purpose is early rule out and discharge is considered safe for patients in the low risk category. Its performance in patients of Asian ethnicity is unknown. We evaluated the performance of the HEART score in patients of Caucasian, Chinese, Indian and Malay ethnicity. The HEART score was assessed retrospectively in 3456 patients presenting to the emergency department with suspected acute coronary syndrome (1791 Caucasians, 1059 Chinese, 344 Indians, 262 Malays), assigning them into three risk categories. The incidence of major adverse cardiovascular events within six weeks after presentation was similar between the ethnic groups. A smaller proportion of Caucasians was in the low risk category compared with Asians (Caucasians 35.8%, Chinese 43.5%, Indians 45.3%, Malays 44.7%, p<0.001). The negative predictive value of a low HEART score was comparable across the ethnic groups, but lower than previously reported (Caucasians 95.3%, Chinese 95.0%, Indians 96.2%, Malays 96.6%). Also the c-statistic for the HEART score was not significantly different between the groups. These results show that the overall performance of the HEART score is equal among Caucasian and Asian ethnic groups. The event rate in the low risk group, however, was higher than reported in previous studies, which queries the safety of early discharge of patients in the low risk category.

  6. Influence of Hypothyroidism on Separate Links of Metabolism, Structure and Function of the Heart in Insulin Resistance

    Directory of Open Access Journals (Sweden)

    T.Yu. Yuzvenko

    2014-05-01

    Full Text Available The article presents research findings of reduced thyroid function impact on the background of insulin resistance on the specific links of metabolism, structure and function of the heart. It is found that in thyroid dysfunction, the main nosological form of myocardial lesion in female patients without concomitant cardiovascular disease is the development of metabolic endocrine cardiomyopathy. Feature of cardiac lesion is the absence of cardiosclerotic, myocardial and ischemic processes in hypothyroidism. Obscure clinical symptoms of the heart both in apparent and subclinical hypothyroidism are detected. Features of clinical, instrumental and laboratory changes in female patients with impaired thyroid function are a trend to systolic blood pressure increase, the absence of significant dyslipidemia, dysglycemia, and cardiocytolysis and hepatocytolysis. Thyroid hormone deficiency is associated with increased myocardial repolarization heterogeneity: subclinical hypothyroidism is accompanied by violation of repolarization processes and the development of electrical heterogeneity of ventricular myocardium, and in the apparent hypothyroidism changes are more linked with the violation of the homogeneity of the electrical impulse to the atria.

  7. Clinical findings in right ventricular noncompaction in hypoplastic left heart syndrome.

    Science.gov (United States)

    Gardner, Monique M; Cohen, Meryl S

    2017-12-01

    Noncompaction is a poorly understood form of cardiomyopathy that typically affects the left ventricle and may be associated with congenital heart disease. Right ventricular noncompaction (RVNC) may occur when the left ventricle is affected but is rarely seen in isolation. RVNC may have clinical significance affecting surgical and long-term outcomes. We describe the diagnosis and clinical course in three patients at our institution. We performed a retrospective review of patients diagnosed with RVNC over a 12-month period at our institution and reviewed their imaging and clinical course. Three patients were identified. All had diagnosis of RVNC by echocardiography (echo) made on postnatal imaging which reviewed degree of trabeculation, and noncompaction-to-compaction ratio of the myocardium. Patient A was a neonate with hypoplastic left heart syndrome (HLHS) who underwent a Norwood operation with Sano modification. Her postoperative course was notable for low-normal RV function. She returned with a pericardial effusion warranting immediate pericardiocentesis. She continued to have effusions, which were medically managed. She was subsequently found to have an RV apical pseudoaneurysm, which required surgical resection. Patient B was a neonate with HLHS who had a Norwood operation with Sano modification. She had low-normal RV function on echo. She required medical management for pericardial effusion. Patient C was a neonate with HLHS who also underwent a Norwood operation with Sano modification. His postoperative course was notable for elevated serum brain natriuretic peptide, which was treated with digoxin. RVNC is a rare diagnosis with limited known clinical impact. One of these patients had a very rare complication after pericardiocentesis (pseudoaneurysm) that may have been related to the RVNC. Our understanding of this disease process is limited and requires additional investigation, but emphasizes the importance of appropriate diagnosis to allow for timely

  8. Indirect and direct costs of acute coronary syndromes with comorbid atrial fibrillation, heart failure, or both

    Directory of Open Access Journals (Sweden)

    Ghushchyan V

    2014-12-01

    Full Text Available Vahram Ghushchyan,1,2 Kavita V Nair,2 Robert L Page II2,3 1College of Business and Economics, American University of Armenia, Yerevan, Armenia; 2Department of Clinical Pharmacy, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado, Aurora, CO, USA; 3Department of Physical Medicine, School of Medicine, University of Colorado, Aurora, CO, USA Background: The objective of this study was to determine the direct and indirect costs of acute coronary syndromes (ACS alone and with common cardiovascular comorbidities. Methods: A retrospective analysis was conducted using the Medical Expenditure Panel Survey from 1998 to 2009. Four mutually exclusive cohorts were evaluated: ACS only, ACS with atrial fibrillation (AF, ACS with heart failure (HF, and ACS with both conditions. Direct costs were calculated for all-cause and cardiovascular-related health care resource utilization. Indirect costs were determined from productivity losses from missed days of work. Regression analysis was developed for each outcome controlling for age, US census region, insurance coverage, sex, race, ethnicity, education attainment, family income, and comorbidity burden. A negative binomial regression model was used for health care utilization variables. A Tobit model was utilized for health care costs and productivity loss variables. Results: Total health care costs were greatest for those with ACS and both AF and HF ($38,484±5,191 followed by ACS with HF ($32,871±2,853, ACS with AF ($25,192±2,253, and ACS only ($17,954±563. Compared with the ACS only cohort, the mean all-cause adjusted health care costs associated with ACS with AF, ACS with HF, and ACS with AF and HF were $5,073 (95% confidence interval [CI] 719–9,427, $11,297 (95% CI 5,610–16,985, and $15,761 (95% CI 4,784–26,738 higher, respectively. Average wage losses associated with ACS with and without AF and/or HF amounted to $5,266 (95% CI -7,765, -2,767, when compared with patients

  9. Associated genetic syndromes and extracardiac malformations strongly influence outcomes of fetuses with congenital heart diseases.

    Science.gov (United States)

    Bensemlali, Myriam; Bajolle, Fanny; Ladouceur, Magalie; Fermont, Laurent; Lévy, Marilyne; Le Bidois, Jérôme; Salomon, Laurent J; Bonnet, Damien

    2016-05-01

    Congenital heart disease (CHD) is often associated with extracardiac malformations (ECMs) and genetic syndromes. To determine the effect of cytogenetic anomalies and/or ECMs associated with CHD on parental decision to choose termination of pregnancy (TOP) or compassionate care (CC), as well as on the outcome of children born alive. This 10-year retrospective study included all prenatally diagnosed cases of CHD in a single tertiary referral centre. From January 2002 to December 2011, 2036 consecutive cases of fetal CHD (798 TOPs and 1238 live births, including 59 with postnatal CC) were included. CHD was associated with a known cytogenetic anomaly in 9.8% of cases and a major ECM in 11.7% of cases. The proportion of prenatally identified associated cytogenetic anomalies was significantly lower in the live-birth group than in the TOP plus CC group (4.2% vs 17.5%; P<0.001); this was also true for ECMs (8.1% vs 16.7%; P<0.001). The mortality rate was higher in the group with an associated cytogenetic anomaly or ECM (29.1%) than in cases with isolated CHD; a 2.4-fold increase in the death rate was observed (95% confidence interval 1.34-4.38; P=0.003). These associations remained significant after multivariable analysis, including the severity of the CHD (uni- or biventricular physiology). Prenatal diagnosis of a known cytogenetic anomaly or major ECM strongly influences parental decision to choose TOP or postnatal CC. Genetic syndromes and ECMs are associated with a higher mortality rate, independent of the complexity of the CHD. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  10. Relationship between legumes consumption and metabolic syndrome: Findings of the Isfahan Healthy Heart Program

    Directory of Open Access Journals (Sweden)

    Firouzeh Sajjadi

    2014-01-01

    Full Text Available BACKGROUND: Epidemiologic studies have shown an inverse association between dietary fiber and metabolic syndrome (MetS. Therefore, the purpose of this study was to investigate the association between MetS and consumption of legumes in adults in Isfahan, Iran. METHODS: This cross-sectional study was carried out on 2027 individuals who were a subsample of the 3rd phase of the Isfahan Healthy Heart Program (IHHP. Basic characteristics information such as age, sex, smoking status, and physical activity were collected using a questionnaire. A validated 48-item food frequency questionnaire was used to assess dietary behaviors. Blood pressure, waist circumference (WC, glucose, triacylglycerols, and high-density lipoprotein cholesterol were measured, and MetS was defined based on Adult Treatment Panel III guidelines. Multiple logistic regression models examined associations of frequency consumption of legumes with MetS occurrence and its components. RESULTS: All MetS components were less prevalent among subjects with regular legume intake (P < 0.01. Legume intake was inversely associated with the risk of MetS, after adjustment for confounding factors in women. Life style adjusted odds ratio of Mets between highest and lowest tertile and no consumption (as reference category of legume intake were 0.31 (0.13, 0.70, 0.38 (0.17, 0.87, respectively, in women (P = 0.01. CONCLUSION: This study showed that age has a crucial role in MetS incidence; therefore, after further age adjustment to lifestyle adjusted model there was no significant difference in lower and higher tertile of legume intake and MetS.   Keywords: Legumes, Metabolic Syndrome, Iran 

  11. Heart type fatty acid binding protein response and subsequent development of atherosclerosis in insulin resistant polycystic ovary syndrome patients

    OpenAIRE

    Cakir Evrim; Ozbek Mustafa; Sahin Mustafa; Cakal Erman; Gungunes Askin; Ginis Zeynep; Demirci Taner; Delibasi Tuncay

    2012-01-01

    Abstract Background Women with polycystic ovary syndrome (PCOS) have higher risk for cardiovascular disease (CVD). Heart type fatty acid binding protein (HFABP) has been found to be predictive for myocardial ischemia.Wet ested whether HFABP is the predictor for CVD in PCOS patients, who have an increased risk of cardiovascular disease. Methods This was a prospective, cross sectional controlled study conducted in a training and research hospital.The study population consisted of 46 reproductiv...

  12. Relationship between heart rate recovery and inflammatory markers in patients with polycystic ovary syndrome: a cross-sectional study

    OpenAIRE

    Giallauria Francesco; Orio Francesco; Lombardi Gaetano; Colao Annamaria; Vigorito Carlo; Tafuri Maria; Palomba Stefano

    2009-01-01

    Abstract Background Polycystic ovary syndrome (PCOS) is an endocrine disease closely related to several risk factors for cardiovascular disease. An abnormal heart rate recovery (HRR), an easily-obtained measure derived from exercise stress test and closely related to an increased risk for cardiovascular mortality, has been recently described in PCOS women. A subclinical increase of the inflammation markers has been also observed in the PCOS. This study was designed to study the relationships ...

  13. Review of the Relationship of Restless Legs Syndrome and Periodic Limb Movements in Sleep to Hypertension, Heart Disease, and Stroke

    OpenAIRE

    Walters, Arthur S.; Rye, David B.

    2009-01-01

    Evidence is reviewed documenting an intimate relationship among restless legs syndrome (RLS) / periodic limb movements in sleep (PLMS) and hypertension and cardiovascular and cerebrovascular disease. Sympathetic overactivity is associated with RLS/PLMS, as manifested by increased pulse rate and blood pressure coincident with PLMS. Causality is far from definitive. Mechanisms are explored as to how RLS/PLMS may lead to high blood pressure, heart disease, and stroke: (a) the sympathetic hyperac...

  14. A systematic method for using 3D echocardiography to evaluate tricuspid valve insufficiency in hypoplastic left heart syndrome

    OpenAIRE

    Mart, Christopher Robin; Eckhauser, Aaron Wesley; Murri, Michael; Su, Jason Thomas

    2014-01-01

    With surgical palliation of hypoplastic left heart syndrome (HLHS), the tricuspid valve (TV) becomes the systemic atrioventricular valve and moderate/severe TV insufficiency (TVI), an adverse risk factor for survival to Fontan, has been reported in up to 35% of patients prior to stage I palliation. Precise echocardiographic identification of the mechanism of TVI cannot be determined by two-dimensional echocardiography. Three-dimensional echocardiography (3DE) can provide significant insight i...

  15. Cardiac Auscultation for Noncardiologists: Application in Cardiac Rehabilitation Programs: PART I: PATIENTS AFTER ACUTE CORONARY SYNDROMES AND HEART FAILURE.

    Science.gov (United States)

    Compostella, Leonida; Compostella, Caterina; Russo, Nicola; Setzu, Tiziana; Iliceto, Sabino; Bellotto, Fabio

    2017-09-01

    During outpatient cardiac rehabilitation after an acute coronary syndrome or after an episode of congestive heart failure, a careful, periodic evaluation of patients' clinical and hemodynamic status is essential. Simple and traditional cardiac auscultation could play a role in providing useful prognostic information.Reduced intensity of the first heart sound (S1), especially when associated with prolonged apical impulse and the appearance of added sounds, may help identify left ventricular (LV) dysfunction or conduction disturbances, sometimes associated with transient myocardial ischemia. If both S1 and second heart sound (S2) are reduced in intensity, a pericardial effusion may be suspected, whereas an increased intensity of S2 may indicate increased pulmonary artery pressure. The persistence of a protodiastolic sound (S3) after an acute coronary syndrome is an indicator of severe LV dysfunction and a poor prognosis. In patients with congestive heart failure, the association of an S3 and elevated heart rate may indicate impending decompensation. A presystolic sound (S4) is often associated with S3 in patients with LV failure, although it could also be present in hypertensive patients and in patients with an LV aneurysm. Careful evaluation of apical systolic murmurs could help identifying possible LV dysfunction or mitral valve pathology, and differentiate them from a ruptured papillary muscle or ventricular septal rupture. Friction rubs after an acute myocardial infarction, due to reactive pericarditis or Dressler syndrome, are often associated with a complicated clinical course.During cardiac rehabilitation, periodic cardiac auscultation may provide useful information about the clinical-hemodynamic status of patients and allow timely detection of signs, heralding possible complications in an efficient and low-cost manner.

  16. Pathophysiology of white-nose syndrome in bats: a mechanistic model linking wing damage to mortality.

    Science.gov (United States)

    Warnecke, Lisa; Turner, James M; Bollinger, Trent K; Misra, Vikram; Cryan, Paul M; Blehert, David S; Wibbelt, Gudrun; Willis, Craig K R

    2013-08-23

    White-nose syndrome is devastating North American bat populations but we lack basic information on disease mechanisms. Altered blood physiology owing to epidermal invasion by the fungal pathogen Geomyces destructans (Gd) has been hypothesized as a cause of disrupted torpor patterns of affected hibernating bats, leading to mortality. Here, we present data on blood electrolyte concentration, haematology and acid-base balance of hibernating little brown bats, Myotis lucifugus, following experimental inoculation with Gd. Compared with controls, infected bats showed electrolyte depletion (i.e. lower plasma sodium), changes in haematology (i.e. increased haematocrit and decreased glucose) and disrupted acid-base balance (i.e. lower CO2 partial pressure and bicarbonate). These findings indicate hypotonic dehydration, hypovolaemia and metabolic acidosis. We propose a mechanistic model linking tissue damage to altered homeostasis and morbidity/mortality.

  17. Unexplored relationship of sleep disturbances linked to suicidal ideation and behavior in postural orthostatic tachycardia syndrome

    Directory of Open Access Journals (Sweden)

    Shafqat MN

    2017-07-01

    Full Text Available Muhammad Nabeel Shafqat,1 Muhammad Aadil,2 Maria Shoaib31Department of Medicine, University of Medical Sciences “Serafin Ruiz de Zarate” Villa Clara (UCMVC, Villa Clara, Cuba; 2Department of Psychiatry, Rush University Medical Center, Chicago, IL, USA; 3Department of Medicine, Dow Medical College, Dow University of Health Sciences, Karachi, PakistanWe read with great interest the currently published article written by Pederson and Brook1 entitled “Sleep disturbance linked to suicidal ideation in postural orthostatic tachycardia syndrome”. Awareness of postural orthostatic tachycardia syndrome (POTS has increased in recent years. However, sleep disturbance has not been thoroughly investigated as a cause of increased suicidal risk in patients with POTS. We would like to applaud the authors on conducting this novel cross-sectional study to understand and highlight the potential relationship between sleep disturbances and increased risk of suicide in patients suffering from POTS.1View the original paper by Pederson and Brook.

  18. X-linked Acrogigantism (X-LAG) Syndrome: Clinical Profile and Therapeutic Responses

    Science.gov (United States)

    Beckers, Albert; Lodish, Maya Beth; Trivellin, Giampaolo; Rostomyan, Liliya; Lee, Misu; Faucz, Fabio R; Yuan, Bo; Choong, Catherine S; Caberg, Jean-Hubert; Verrua, Elisa; Naves, Luciana Ansaneli; Cheetham, Tim D; Young, Jacques; Lysy, Philippe A; Petrossians, Patrick; Cotterill, Andrew; Shah, Nalini Samir; Metzger, Daniel; Castermans, Emilie; Ambrosio, Maria Rosaria; Villa, Chiara; Strebkova, Natalia; Mazerkina, Nadia; Gaillard, Stéphan; Barra, Gustavo Barcelos; Casulari, Luis Augusto; Neggers, Sebastian J.; Salvatori, Roberto; Jaffrain-Rea, Marie-Lise; Zacharin, Margaret; Santamaria, Beatriz Lecumberri; Zacharieva, Sabina; Lim, Ee Mun; Mantovani, Giovanna; Zatelli, Maria Chaira; Collins, Michael T; Bonneville, Jean-François; Quezado, Martha; Chittiboina, Prashant; Oldfield, Edward H.; Bours, Vincent; Liu, Pengfei; De Herder, Wouter; Pellegata, Natalia; Lupski, James R.; Daly, Adrian F.; Stratakis, Constantine A.

    2015-01-01

    X-linked acro-gigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and a microduplication in chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in 2 families was dominant with all Xq26.3 duplication carriers being affected. Patients began to grow rapidly as early as 2–3 months of age (median 12 months). At diagnosis (median delay 27 months), patients had a median height and weight SDS score of >+3.9 SDS. Apart from the increased overall body size, the children had acromegalic symptoms including acral enlargement and facial coarsening. More than a third of cases had increased appetite. Patients had marked hypersecretion of GH/IGF-1 and prolactin, usually due to a pituitary macroadenoma or hyperplasia. Primary neurosurgical control was achieved with extensive anterior pituitary resection but postoperative hypopituitarism was frequent. Control with somatostatin analogs was not readily achieved despite moderate to high somatostatin receptor subtype-2 expression in tumor tissue. Postoperative adjuvant pegvisomant achieved control of IGF-1 all 5 cases in which it was employed. X-LAG is a new infant-onset gigantism syndrome that has a severe clinical phenotype leading to challenging disease management. PMID:25712922

  19. Metabolic syndrome and mortality in stable coronary heart disease: relation to gender

    DEFF Research Database (Denmark)

    Kragelund, Charlotte; Køber, Lars; Faber, Jens

    2007-01-01

    BACKGROUND: Metabolic syndrome (MS) is associated with subsequent development of type 2 diabetes and cardiovascular disease in the general population. The impact of MS on mortality in patients with stable coronary heart disease is less well defined, and the association of prognosis to gender...... follow-up of 9.2 years. RESULTS: At follow-up 296 (28%) patients had died. 315 (30%) patients had MS based on the definition by the World Health Organization. Patients with MS more frequently had diabetes and three-vessel disease of the coronary arteries. Men had a more severe risk profile than women....... In a multivariable Cox regression analysis, MS was not associated with excess mortality risk in the overall population [adjusted HR=1.3 (95% CI: 0.7-2.3), p=0.43]. In gender specific analyses MS increased risk of all-cause mortality in women [adjusted HR=2.2 (95% CI: 1.1-4.3), p=0.02], but not in men [adjusted HR=1...

  20. Association between congenital heart defects and severe infections in children with Down syndrome.

    Science.gov (United States)

    Faria, Paula Foresti; Nicolau, Juliana Augusta Zeglin; Melek, Marina Zaponi; de Oliveira, Nanci de Santa Palmieri; Bermudez, Beatriz Elizabeth Bagatin Veleda; Nisihara, Renato Mitsunori

    2014-01-01

    There is a high prevalence of congenital heart disease (CHD) in Down syndrome (DS) patients. Children with DS and CHD also present greater susceptibility to pulmonary infections than those without CHD. To investigate the prevalence and types of CHD and their association with severe infections in children with DS in southern Brazil seen in a reference outpatient clinic. Children aged between six and 48 months with a diagnosis of DS were included consecutively in the period May 2001 to May 2012, and the presence of CHD and severe infections (pneumonia and sepsis) was investigated, classified and analyzed. A total of 127 patients were included, of whom 89 (70.1%) had some type of CHD, 33 (37.7%) of them requiring surgical correction. Severe infections (pneumonia and sepsis) were seen in 23.6% and 5.5%, respectively. Of the cases of pneumonia, 70% had associated CHD (p=0.001) and of those with sepsis, 85% presented CHD (p=0.001). Our study showed a high prevalence of CHD and its association with severe infections in children with DS seen in southern Brazil. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  1. Effects of Adiposity and Prader-Willi Syndrome on Postexercise Heart Rate Recovery

    Directory of Open Access Journals (Sweden)

    Diobel M. Castner

    2013-01-01

    Full Text Available Heart rate recovery (HRR is an indicator of all-cause mortality in children and adults. We aimed to determine the effect of adiposity and Prader-Willi Syndrome (PWS, a congenital form of obesity, on HRR. Sixteen children of normal weight (NW = body fat % ≤85th percentile, 9.4 ± 1.1 y, 18 children with obesity (OB = body fat % >95th percentile, 9.3 ± 1.1 y, and 11 PWS youth (regardless of body fat %; 11.4 ± 2.5 y completed peak and submaximal bike tests on separate visits. HRR was recorded one minute following peak and submaximal exercises. All groups displayed similar HRR from peak exercise, while NW (54 ± 16 beats and OB (50 ± 12 beats exhibited a significantly faster HRR from submaximal exercise than PWS (37 ± 14 beats. These data suggest that excess adiposity does not influence HRR in children, but other factors such as low cardiovascular fitness and/or autonomic dysfunction might be more influential.

  2. Polycystic ovary syndrome (PCOS) and the risk of coronary heart disease (CHD): a meta-analysis.

    Science.gov (United States)

    Zhao, Luqian; Zhu, Zhigang; Lou, Huiling; Zhu, Guodong; Huang, Weimin; Zhang, Shaogang; Liu, Feng

    2016-06-07

    Some studies reported a significant association between polycystic ovary syndrome (PCOS) and risk of cardiovascular disease (CVD). However, the results are controversial. A systematic search was conducted in the PubMed, Science Direct, EMBASE, and Cochrane Library databases. Five case-control studies and 5 cohort studies were selected, involving a total of 104392 subjects in this meta-analysis. PCOS was significantly associated with the increased risk of CVD (OR = 1.30; 95% CI 1.09 - 1.56; P = 0.004). In the subgroup analysis of study design, both case-control studies and prospective cohort studies showed significant results (OR = 1.79; 95% CI 1.16 - 2.77; P = 0.009; OR = 1.20; 95% CI 1.06 - 1.37; P = 0.005), while retrospective cohort studies did not show positive result (OR = 0.91; 95% CI 0.60 - 1.40; P = 0.68). In a further stratified analysis by type of CVD, a significant association was found between PCOS and coronary heart disease (CHD) (OR = 1.44; 95% CI 1.13 - 1.84; P = 0.004). However, no significant association was observed between PCOS and myocardial infarction (MI) (OR = 1.01; 95% CI 0.68 - 1.51; P = 0.95). In conclusion, this meta-analysis suggested that PCOS is significantly associated with increased CHD risk.

  3. Nordic walking for cardiovascular prevention in patients with ischaemic heart disease or metabolic syndrome.

    Science.gov (United States)

    Vehí, Cristina; Falces, Carles; Sarlat, Miquel Àngel; Gonzalo, Ana; Andrea, Rut; Sitges, Marta

    2016-12-16

    The incidence of atherosclerotic diseases has increased in Europe due in part to the population's sedentary lifestyle. Physical activity is useful for cardiovascular prevention. Nordic walking (NW) mobilizes a great number of muscular groups and is very popular in northern Europe. There is no data available on its impact in the healthcare system of the Mediterranean area. We propose the implementation of a NW program to promote physical activity and control cardiovascular risk factors (CVRF), as well as to improve quality of life and the adherence to medical treatment in patients with a chronic ischemic heart disease or metabolic syndrome. We selected patients with uncontrolled CVRFs. These patients performed 2 weekly sessions of NW over the course of one year. Baseline data extracted from the patients' medical history, quality of life questionnaires and on adherence to treatment was compared with the results obtained at the end of the program. A reduction in the rate of CVRFs from 4.78 to 3 was observed, with an evident trend towards the improvement of the patients' quality of life and a better adherence to the treatment. The implementation of a NW program is feasible in the public healthcare system and can aid in the management of CVRFs. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

  4. The signature of circulating microparticles in heart failure patients with metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Alexander E Berezin

    2016-11-01

    Full Text Available The role of pattern of circulating endothelial cell-derived microparticles, platelet-derived microparticles (PMPs, and monocyte-derived microparticles (MMPs in metabolic syndrome (MetS patients with chronic heart failure (CHF is not still understood. The aim of the study was to investigate a pattern of circulating microparticles (MPs in MetS patients with CHF in relation to neurohumoral and inflammatory activation. The study retrospectively involved 101 patients with MetS and 35 healthy volunteers. Biomarkers were measured at baseline of the study. The results of the study have shown that numerous circulating PMPs- and MMPs in subjects with MetS (with or without CHF insufficiently distinguished from level obtained in healthy volunteers. We found elevated level of CD31+/annexin V+ MPs in association with lower level of CD62E+ MPs. Therefore, we found that biomarkers of biomechanical stress serum N-terminal brain natriuretic peptide and inflammation (high-sensitive C-reactive protein ,osteoprotegerin remain statistically significant predictors for decreased CD62E+ to CD31+/annexin V+ ratio in MetS patients with CHF. In conclusion, decreased CD62E+ to CD31+/annexin V+ ratio reflected that impaired immune phenotype of MPs may be discussed as a surrogate marker of CHF development in MetS population.

  5. Acute heart failure with and without concomitant acute coronary syndromes: patient characteristics, management, and survival.

    Science.gov (United States)

    Tarvasmäki, Tuukka; Harjola, Veli-Pekka; Nieminen, Markku S; Siirilä-Waris, Krista; Tolonen, Jukka; Tolppanen, Heli; Lassus, Johan

    2014-10-01

    Acute coronary syndromes (ACS) may precipitate up to a third of acute heart failure (AHF) cases. We assessed the characteristics, initial management, and survival of AHF patients with (ACS-AHF) and without (nACS-AHF) concomitant ACS. Data from 620 AHF patients were analyzed in a prospective multicenter study. The ACS-AHF patients (32%) more often presented with de novo AHF (61% vs. 43%; P coronary procedures (angiography, percutaneous coronary intervention, coronary artery bypass graft surgery), were more frequent in ACS-AHF (P < .001 for all). Although 30-day mortality was significantly higher for ACS-AHF (13% vs. 8%; P = .03), survival in the 2 groups at 5 years was similar. Overall, ACS was an independent predictor of 30-day mortality (adjusted odds ratio 2.0, 95% confidence interval 1.07-3.79; P = .03). Whereas medical history and the manifestation and initial treatment of AHF between ACS-AHF and nACS-AHF patients differ, long-term survival is similar. ACS is, however, independently associated with increased short-term mortality. Copyright © 2014 Elsevier Inc. All rights reserved.

  6. Heart failure in patients admitted for acute coronary syndromes: A report from a large national registry.

    Science.gov (United States)

    Jeger, Raban V; Pfister, Otmar; Radovanovic, Dragana; Eberli, Franz R; Rickli, Hans; Urban, Philip; Pedrazzini, Giovanni; Stauffer, Jean-Christophe; Nossen, Jörg; Erne, Paul

    2017-10-01

    Data on temporal trends of heart failure (HF) in acute coronary syndrome (ACS) are scarce. Improved treatment options may have led to lower case-fatality rates (CFRs) during the last years in ACS complicated by HF. Patients of the nationwide Acute Myocardial Infarction in Switzerland (AMIS)-Plus ACS registry were analyzed from 2000 to 2014. Of 36 366 ACS patients, 3376 (9.3%) had acute or chronic HF, 2111 (5.8%) de novo acute HF (AHF), 964 (2.7%) chronic HF (CHF), and 301 (0.8%) acute decompensated CHF (ADCHF). In-hospital CFRs were highest in patients with ADCHF (32.6%) and de novo AHF (29.7%), followed by patients with CHF (12.9%) and without HF (3.2%, P acute HF. Although advances in ACS therapy improved in-hospital CFRs in patients with no HF or CHF, CFRs remained unchanged and high in patients with acute HF and ACS over the last decade. © 2017 Wiley Periodicals, Inc.

  7. Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum

    NARCIS (Netherlands)

    Bouman, Arjan; Alders, Mariëlle; Oostra, Roelof Jan; van Leeuwen, Elisabeth; Thuijs, Nikki; van der Kevie-Kersemaekers, Anne-Marie; van Maarle, Merel

    2017-01-01

    Oral-facial-digital syndrome type 1 (OFD1; OMIM# 311200) is an X-linked dominant ciliopathy caused by mutations in the OFD1 gene. This condition is characterized by facial anomalies and abnormalities of oral tissues, digits, brain, and kidneys. Almost all affected patients are female, as OFD1 is

  8. Polycystic ovarian syndrome and low milk supply: Is insulin resistance the missing link?

    Directory of Open Access Journals (Sweden)

    Lora Stanka Kirigin Biloš

    2017-06-01

    Full Text Available Despite the known maternal and infant benefits of breastfeeding, only about two-fifths of infants are exclusively breastfed for the first 6 months of life, with low milk supply among the most commonly cited reasons for breastfeeding cessation. Although anecdotal reports from lactation consultants indicate that polycystic ovarian syndrome (PCOS interferes with lactation, very few studies have examined this relationship, and the association between PCOS and lactation dysfunction remains poorly understood. Moreover, studies have reported conflicting results when examining breastfeeding success in women with PCOS, and divergence of the PCOS phenotype may be responsible for the heterogeneous results to date. Specifically, insulin resistance may have an aggravating or even essential role in the pathogenesis of low milk supply. Recently, protein tyrosine phosphatase, receptor type, F has been identified as a potential biomarker linking insulin resistance with insufficient milk supply. Accordingly, interventions targeting insulin action have been recognized as potentially promising strategies toward the treatment of lactation dysfunction. This review will highlight studies linking PCOS with low milk supply and explore potential mechanisms that contribute to lactation dysfunction in these women.

  9. A Metabonomics Profiling Study on Phlegm Syndrome and Blood-Stasis Syndrome in Coronary Heart Disease Patients Using Liquid Chromatography/Quadrupole Time-of-Flight Mass Spectrometry

    Directory of Open Access Journals (Sweden)

    Linlin Zhao

    2014-01-01

    Full Text Available A metabonomics approach based on liquid chromatography/quadrupole time-of-flight mass spectrometry (LC-Q-TOF/MS was utilized to obtain potential biomarkers of coronary heart disease (CHD patients and investigate the ZHENG types differentiation in CHD patients. The plasma samples of 20 CHD patients with phlegm syndrome, 20 CHD patients with blood-stasis syndrome, and 16 healthy volunteers were collected in the study. 26 potential biomarkers were identified in the plasma of CHD patients and 19 differential metabolites contributed to the discrimination of phlegm syndrome and blood-stasis syndrome in CHD patients (VIP>1.5; P<0.05 which mainly involved purine metabolism, pyrimidine metabolism, amino acid metabolism, steroid biosynthesis, and arachidonic acid metabolism. This study demonstrated that metabonomics approach based on LC-MS was useful for studying pathologic changes of CHD patients and interpreting the differentiation of ZHENG types (phlegm and blood-stasis syndrome in traditional Chinese medicine (TCM.

  10. Exercise training dose differentially alters muscle and heart capillary density and metabolic functions in an obese rat with metabolic syndrome.

    Science.gov (United States)

    Machado, Marcus Vinicius; Vieira, Aline Bomfim; da Conceição, Fabiana Gomes; Nascimento, Alessandro Rodrigues; da Nóbrega, Antonio Claudio Lucas; Tibirica, Eduardo

    2017-12-01

    What is the central question of this study? Regular exercise is recommended as a non-pharmacological approach for the prevention and treatment of metabolic syndrome. However, the impact of different combinations of intensity, duration and frequency of exercise on metabolic syndrome and microvascular density has not been reported. What is the main finding and its importance? We provide evidence on the impact of aerobic exercise dose on metabolic and microvascular alterations in an experimental model of metabolic syndrome induced by high-fat diet. We found that the exercise frequency and duration were the main factors affecting anthropometric and metabolic parameters and microvascular density in the skeletal muscle. Exercise intensity was related only to microvascular density in the heart. We evaluated the effect of the frequency, duration and intensity of exercise training on metabolic parameters and structural capillary density in obese rats with metabolic syndrome. Wistar-Kyoto rats were fed either a standard commercial diet (CON) or a high-fat diet (HFD). Animals that received the HFD were randomly separated into either a sedentary (SED) group or eight different exercise groups that varied according to the frequency, duration and intensity of training. After 12 weeks of aerobic exercise training, the body composition, aerobic capacity, haemodynamic variables, metabolic parameters and capillary density in the heart and skeletal muscle were evaluated. All the exercise training groups showed reduced resting systolic blood pressure and heart rate and normalized fasting glucose. The minimal amount of exercise (90 min per week) produced little effect on metabolic syndrome parameters. A moderate amount of exercise (150 min per week) was required to reduce body weight and improve capillary density. However, only the high amount of exercise (300 min per week) significantly reduced the amount of body fat depots. The three-way ANOVA showed a main effect of exercise

  11. Vascular Cognitive Impairment Linked to Brain Endothelium Inflammation in Early Stages of Heart Failure in Mice.

    Science.gov (United States)

    Adamski, Mateusz G; Sternak, Magdalena; Mohaissen, Tasnim; Kaczor, Dawid; Wierońska, Joanna M; Malinowska, Monika; Czaban, Iwona; Byk, Katarzyna; Lyngsø, Kristina S; Przyborowski, Kamil; Hansen, Pernille B L; Wilczyński, Grzegorz; Chlopicki, Stefan

    2018-03-26

    Although advanced heart failure (HF) is a clinically documented risk factor for vascular cognitive impairment, the occurrence and pathomechanisms of vascular cognitive impairment in early stages of HF are equivocal. Here, we characterize vascular cognitive impairment in the early stages of HF development and assess whether cerebral hypoperfusion or prothrombotic conditions are involved. Tgαq*44 mice with slowly developing isolated HF triggered by cardiomyocyte-specific overexpression of G-αq*44 protein were studied before the end-stage HF, at the ages of 3, 6, and 10 months: before left ventricle dysfunction; at the stage of early left ventricle diastolic dysfunction (with preserved ejection fraction); and left ventricle diastolic/systolic dysfunction, respectively. In 6- to 10-month-old but not in 3-month-old Tgαq*44 mice, behavioral and cognitive impairment was identified with compromised blood-brain barrier permeability, most significantly in brain cortex, that was associated with myelin sheet loss and changes in astrocytes and microglia. Brain endothelial cells displayed increased E-selectin immunoreactivity, which was accompanied by increased amyloid-β 1-42 accumulation in piriform cortex and increased cortical oxidative stress (8-OHdG immunoreactivity). Resting cerebral blood flow measured by magnetic resonance imaging in vivo was preserved, but ex vivo NO-dependent cortical arteriole flow regulation was impaired. Platelet hyperreactivity was present in 3- to 10-month-old Tgαq*44 mice, but it was not associated with increased platelet-dependent thrombogenicity. We report for the first time that vascular cognitive impairment is already present in the early stage of HF development, even before left ventricle systolic dysfunction. The underlying pathomechanism, independent of brain hypoperfusion, involves preceding platelet hyperreactivity and brain endothelium inflammatory activation. © 2018 The Authors. Published on behalf of the American Heart

  12. Linking hearts and minds in couple interactions: intentions, attributions, and overriding sentiments.

    Science.gov (United States)

    Waldinger, Robert J; Schulz, Marc S

    2006-09-01

    This study examined the role of emotion and relationship satisfaction in shaping attributions about a partner's intentions in couple interactions. Using video recall, participants (N = 156 couples) reported on their own and their partner's intentions and emotions during affective moments of a discussion about an upsetting event. Links were found between relationship satisfaction and factor-analytically derived intention and attribution scales. Attributions about a partner's intentions were weakly to moderately correlated with the partner's self-reported intentions. Relationship satisfaction accounted for part of the discrepancy between self-reported intentions and partner attributions. Emotions mediated the links between relationship satisfaction and attributions, suggesting that clinicians working with distressed couples should pay more attention to the emotional climate in which attributions are made. Copyright (c) 2006 APA, all rights reserved.

  13. Alzheimer's disease amyloid-beta links lens and brain pathology in Down syndrome.

    Directory of Open Access Journals (Sweden)

    Juliet A Moncaster

    2010-05-01

    Full Text Available Down syndrome (DS, trisomy 21 is the most common chromosomal disorder and the leading genetic cause of intellectual disability in humans. In DS, triplication of chromosome 21 invariably includes the APP gene (21q21 encoding the Alzheimer's disease (AD amyloid precursor protein (APP. Triplication of the APP gene accelerates APP expression leading to cerebral accumulation of APP-derived amyloid-beta peptides (Abeta, early-onset AD neuropathology, and age-dependent cognitive sequelae. The DS phenotype complex also includes distinctive early-onset cerulean cataracts of unknown etiology. Previously, we reported increased Abeta accumulation, co-localizing amyloid pathology, and disease-linked supranuclear cataracts in the ocular lenses of subjects with AD. Here, we investigate the hypothesis that related AD-linked Abeta pathology underlies the distinctive lens phenotype associated with DS. Ophthalmological examinations of DS subjects were correlated with phenotypic, histochemical, and biochemical analyses of lenses obtained from DS, AD, and normal control subjects. Evaluation of DS lenses revealed a characteristic pattern of supranuclear opacification accompanied by accelerated supranuclear Abeta accumulation, co-localizing amyloid pathology, and fiber cell cytoplasmic Abeta aggregates (approximately 5 to 50 nm identical to the lens pathology identified in AD. Peptide sequencing, immunoblot analysis, and ELISA confirmed the identity and increased accumulation of Abeta in DS lenses. Incubation of synthetic Abeta with human lens protein promoted protein aggregation, amyloid formation, and light scattering that recapitulated the molecular pathology and clinical features observed in DS lenses. These results establish the genetic etiology of the distinctive lens phenotype in DS and identify the molecular origin and pathogenic mechanism by which lens pathology is expressed in this common chromosomal disorder. Moreover, these findings confirm increased Abeta

  14. Rapid recovery from congestive heart failure following successful radiofrequency catheter ablation in a patient with late onset of Wolff-Parkinson-White syndrome.

    Science.gov (United States)

    Yodogawa, Kenji; Ono, Norihiko; Seino, Yoshihiko

    2012-01-01

    A 56-year-old man was admitted because of palpitations and dyspnea. A 12-lead electrocardiogram showed irregular wide QRS complex tachycardia with a slur at the initial portion of the QRS complex. He had preexisting long-standing persistent atrial fibrillation, but early excitation syndrome had never been noted. Chest X-ray showed heart enlargement and pulmonary congestion. He was diagnosed with late onset of Wolff-Parkinson-White syndrome, and congestive heart failure was probably caused by rapid ventricular response of atrial fibrillation through the accessory pathway. Emergency catheter ablation for the accessory pathway was undertaken, and heart failure was dramatically improved.

  15. Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association

    NARCIS (Netherlands)

    Antzelevitch, Charles; Brugada, Pedro; Borggrefe, Martin; Brugada, Josep; Brugada, Ramon; Corrado, Domenico; Gussak, Ihor; LeMarec, Herve; Nademanee, Koonlawee; Perez Riera, Andres Ricardo; Shimizu, Wataru; Schulze-Bahr, Eric; Tan, Hanno; Wilde, Arthur

    2005-01-01

    Since its introduction as a clinical entity in 1992, the Brugada syndrome has progressed from being a rare disease to one that is second only to automobile accidents as a cause of death among young adults in some countries. Electrocardiographically characterized by a distinct ST-segment elevation in

  16. Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network.

    Science.gov (United States)

    Grati, M'hamed; Shin, Jung-Bum; Weston, Michael D; Green, James; Bhat, Manzoor A; Gillespie, Peter G; Kachar, Bechara

    2012-10-10

    Usher syndrome is the leading cause of genetic deaf-blindness. Monoallelic mutations in PDZD7 increase the severity of Usher type II syndrome caused by mutations in USH2A and GPR98, which respectively encode usherin and GPR98. PDZ domain-containing 7 protein (PDZD7) is a paralog of the scaffolding proteins harmonin and whirlin, which are implicated in Usher type 1 and type 2 syndromes. While usherin and GPR98 have been reported to form hair cell stereocilia ankle-links, harmonin localizes to the stereocilia upper tip-link density and whirlin localizes to both tip and ankle-link regions. Here, we used mass spectrometry to show that PDZD7 is expressed in chick stereocilia at a comparable molecular abundance to GPR98. We also show by immunofluorescence and by overexpression of tagged proteins in rat and mouse hair cells that PDZD7 localizes to the ankle-link region, overlapping with usherin, whirlin, and GPR98. Finally, we show in LLC-PK1 cells that cytosolic domains of usherin and GPR98 can bind to both whirlin and PDZD7. These observations are consistent with PDZD7 being a modifier and candidate gene for USH2, and suggest that PDZD7 is a second scaffolding component of the ankle-link complex.

  17. X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

    NARCIS (Netherlands)

    Synofzik, Matthis; Müller Vom Hagen, Jennifer; Haack, Tobias B.; Wilhelm, Christian; Lindig, Tobias; Beck-Wödl, Stefanie; Nabuurs, Sander B.; van Kuilenburg, André B. P.; de Brouwer, Arjan P. M.; Schöls, Ludger

    2014-01-01

    X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-function mutations in PRPS1. As only few families have been

  18. Does Congenital Heart Disease Affect Neurodevelopmental Outcomes in Children with Down Syndrome?

    Science.gov (United States)

    Alsaied, Tarek; Marino, Bradley S; Esbensen, Anna J; Anixt, Julia S; Epstein, Jeffery N; Cnota, James F

    2016-01-01

    The impact that congenital heart disease (CHD) has on the neurodevelopment of children with Down syndrome (DS) is unknown and potentially has implications for targeted early intervention. This study assessed the relationship between CHD that required surgery in the first year of life and neurodevelopmental, behavioral and emotional functioning outcomes in children with DS. A retrospective chart review of 1092 children (0-18 years) with DS who visited a single institution from 8/08-8/13 was performed. Children who underwent at least one of nine neurodevelopmental (cognitive, language, developmental) or academic tests were included in the analysis (N = 178). Cohort was age-divided into infants/toddlers (0-2 years), preschoolers (3-5 years), and school age/adolescent (6-18 years). Test scores of children with DS who underwent cardiac surgery in the first year of life were compared to children with DS without CHD. T test, chi-square and Mann Whitney U tests were used where appropriate. Infants/toddlers with cardiac surgery had lower scores for receptive (P = .01), expressive (P = .021) and composite language (P children with cardiac surgery there were no differences in IQ scores, language scores, or academic achievement scores compared to those without CHD. Also at school-age there was no difference in the incidence of ADHD, executive function or on internalizing and externalizing behavior scores. Children with DS undergoing cardiac surgery during the first year demonstrated poorer neurodevelopmental outcomes as infants/toddler but had no difference at school age compared to children with DS without CHD. These results will guide early interventions to optimize neurodevelopmental outcomes in children with DS and will help with family counseling after CHD repair. © 2016 Wiley Periodicals, Inc.

  19. Population-based metabolic syndrome risk score and its determinants: The Isfahan Healthy Heart Program

    Directory of Open Access Journals (Sweden)

    Mohsen Hosseini

    2014-01-01

    Full Text Available Background: Metabolic syndrome (MetSy, an important predisposing factor for the most of noncommunicable diseases, has become a global pandemic. Given different definitions used for the MetSy, recently using a score termed "continuous MetSy risk score (CMetSyS" is recommended. The aim of this study was to provide a CMetSyS in a population-based sample of Iranian adults and to assess its determinants. Materials and Methods: We used the data of the baseline survey of a community trial entitled "the Isfahan health heart program." The MetSy was defined according to the Revised National Cholesterol Education Program Third Adult Treatment Panel. All probable predictive models and their predictive performance were provided using leave-one-out cross-validated logistic regression and the receiver operation characteristic curve methods. Multiple linear regression was performed to assess factors associated with the CMetSyS. Results: The study population consisted of 8313 persons (49.9% male, mean age 38.54 ± 15.86 years. The MetSy was documented in 1539 persons (21.86%. Triglycerides and waist circumference were the best predictive components, and fasting plasma glucose had the lowest area under curve (AUC. The AUC for our best model was 95.36 (94.83-95.83%. The best predictive cutoff for this risk score was −1.151 with 89% sensitivity and 87.93% specificity. Conclusion: We provided four population-based leave-one-out cross-validated risk score models, with moderate to perfect predictive performance to identify the MetSy in Iranian adults. The CMetSyS had significant associations with high sensitive C-reactive protein, body mass index, leisure time, and workplace physical activity as well as age and gender.

  20. Fetal Aortic Valvuloplasty for Evolving Hypoplastic Left Heart Syndrome: Postnatal Outcomes of the First 100 Patients

    Science.gov (United States)

    Freud, Lindsay R.; McElhinney, Doff B.; Marshall, Audrey C.; Marx, Gerald R.; Friedman, Kevin G.; del Nido, Pedro J.; Emani, Sitaram M.; Lafranchi, Terra; Silva, Virginia; Wilkins-Haug, Louise E.; Benson, Carol B.; Lock, James E.; Tworetzky, Wayne

    2015-01-01

    Background Fetal aortic valvuloplasty (FAV) can be performed for severe mid-gestation aortic stenosis (AS) in an attempt to prevent progression to hypoplastic left heart syndrome (HLHS). A subset of patients has achieved a biventricular (BV) circulation after FAV. The postnatal outcomes and survival of the BV patients, compared to those managed as HLHS, have not been reported. Methods and Results We included 100 patients who underwent FAV for severe mid-gestation AS with evolving HLHS from March 2000 to January 2013. Patients were categorized based on postnatal management as BV or HLHS. Clinical records were reviewed. Eighty-eight fetuses were live-born, and 38 had a BV circulation (31 from birth, 7 converted after initial univentricular palliation). Left-sided structures, namely aortic and mitral valve sizes and LV volume, were significantly larger in the BV group at the time of birth (p-values <0.01). After a median follow-up of 5.4 years, freedom from cardiac death among all BV patients was 96±4% at 5 years and 84±12% at 10 years, which was better than HLHS patients (log-rank p=0.04). There was no cardiac mortality in patients with a BV circulation from birth. All but 1 of the BV patients required postnatal intervention; 42% underwent aortic and/or mitral valve replacement. On most recent echocardiogram, the median LV end-diastolic volume z-score was +1.7 (range: -1.3, +8.2), and 80% had normal ejection fraction. Conclusions Short- and intermediate-term survival among patients who underwent FAV and achieved a BV circulation postnatally is encouraging. However, morbidity still exists, and on-going assessment is warranted. PMID:25052401

  1. Effect of dietary habits on the risk of metabolic syndrome: Yazd Healthy Heart Project.

    Science.gov (United States)

    Sarebanhassanabadi, Mohammadtaghi; Mirhosseini, Seyed Jalil; Mirzaei, Masoud; Namayandeh, Seyedeh Mahdieh; Soltani, Mohammad Hossein; Pakseresht, Mohammadreza; Pedarzadeh, Ali; Baramesipour, Zahra; Faraji, Reza; Salehi-Abargouei, Amin

    2018-04-01

    Metabolic syndrome (MetS) refers to a group of risk factors that increase the risk of cardiovascular mortality and morbidity. Dietary habits are among the most important risk factors for MetS. The current study aimed at assessing the effect of dietary habits on the risk of MetS in a 10-year follow-up study in central Iran. Cohort study. Yazd, Iran. Participants aged 20-74 years without any history of MetS, who were originally recruited for Yazd Healthy Heart Project (YHHP) during 2005-2006, were revisited during 2015-2016. At phase I of YHHP, demographic data, anthropometric measurements, five components of MetS, biochemical tests and dietary habits were evaluated; and the same data were collected in phase II. A total of 1092 participants were eligible to be included in the present study. After follow-up, the 10-year cumulative incidence of MetS was 56·1 %. After adjustment for potential confounders, increased risk of MetS (hazard ratio; 95 % CI) was found in those who did not try to control their body weight (1·57; 1·06, 2·35), did not usually eat salad (1·91; 1·22, 3·00) and added salt to their food (1·57, 1·06, 2·33). These associations were stronger in men than in the total population after subgroup analysis, but were not present in women. Dietary habits affect the risk of MetS in the Iranian population. Lifestyle interventions are needed to improve dietary habits to reduce the risk of MetS. Future studies are highly recommended to confirm our results in other populations.

  2. Indirect and direct costs of acute coronary syndromes with comorbid atrial fibrillation, heart failure, or both.

    Science.gov (United States)

    Ghushchyan, Vahram; Nair, Kavita V; Page, Robert L

    2015-01-01

    The objective of this study was to determine the direct and indirect costs of acute coronary syndromes (ACS) alone and with common cardiovascular comorbidities. A retrospective analysis was conducted using the Medical Expenditure Panel Survey from 1998 to 2009. Four mutually exclusive cohorts were evaluated: ACS only, ACS with atrial fibrillation (AF), ACS with heart failure (HF), and ACS with both conditions. Direct costs were calculated for all-cause and cardiovascular-related health care resource utilization. Indirect costs were determined from productivity losses from missed days of work. Regression analysis was developed for each outcome controlling for age, US census region, insurance coverage, sex, race, ethnicity, education attainment, family income, and comorbidity burden. A negative binomial regression model was used for health care utilization variables. A Tobit model was utilized for health care costs and productivity loss variables. Total health care costs were greatest for those with ACS and both AF and HF ($38,484±5,191) followed by ACS with HF ($32,871±2,853), ACS with AF ($25,192±2,253), and ACS only ($17,954±563). Compared with the ACS only cohort, the mean all-cause adjusted health care costs associated with ACS with AF, ACS with HF, and ACS with AF and HF were $5,073 (95% confidence interval [CI] 719-9,427), $11,297 (95% CI 5,610-16,985), and $15,761 (95% CI 4,784-26,738) higher, respectively. Average wage losses associated with ACS with and without AF and/or HF amounted to $5,266 (95% CI -7,765, -2,767), when compared with patients without these conditions. ACS imposes a significant economic burden at both the individual and society level, particularly when with comorbid AF and HF.

  3. Admission Glycaemia and Acute Insulin Resistance in Heart Failure Complicating Acute Coronary Syndrome.

    Science.gov (United States)

    Lazzeri, Chiara; Valente, Serafina; Chiostri, Marco; D'Alfonso, Maria Grazia; Spini, Valentina; Angelotti, Paola; Gensini, Gian Franco

    2015-11-01

    Few data are so far available on the relation between increased glucose values and insulin resistance and mortality at short-term in patients with acute heart failure (AHF). The present investigation, performed in 409 consecutive patients with AHF complicating acute coronary syndrome (ACS), was aimed at assessing the prognostic role of admission glycaemia and acute insulin resistance (as indicated by the Homeostatic Model Assessment - HOMA index) for death during Intensive Cardiac Care (ICCU) stay. Admission glucose tertiles were considered. In our series, diabetic patients accounted for the 33%. Patients in the third glucose tertiles exhibited the lowest LVEF (both on admission and at discharge), a higher use of mechanical ventilation, intra-aortic balloon pump and inotropic drugs and the highest in-ICCU mortality rate. In the overall population, hyperglycaemic patients (both diabetic and non diabetic) were 227 (227/409, 55.5%). Admission glycaemia was an independent predictor of in-ICCU mortality, together with admission LVEF and eGFR, while acute insulin resistance (as indicated by HOMA-index) was not associated with early death. The presence of admission hyperglycaemia in non-diabetic patients was independently associated with in-ICCU death while hyperglycaemia in diabetic patients was not. According to our results, hyperglycaemia is a common finding in patients with ACS complicated by AHF and it is an independent predictor of early death. Non-diabetic patients with hyperglycaemia are the subgroup with the highest risk of early death. Copyright © 2015 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.

  4. Treatment of right ventricle to pulmonary artery conduit stenosis in infants with hypoplastic left heart syndrome.

    Science.gov (United States)

    Münsterer, Andrea; Kasnar-Samprec, Jelena; Hörer, Jürgen; Cleuziou, Julie; Eicken, Andreas; Malcic, Ivan; Lange, Rüdiger; Schreiber, Christian

    2013-09-01

    To determine the incidence of right ventricle-to-pulmonary artery (RV-PA) conduit stenosis after the Norwood I operation in patients with hypoplastic left heart syndrome (HLHS), and to determine whether the treatment strategy of RV-PA conduit stenosis has an influence on interstage and overall survival. Ninety-six patients had a Norwood operation with RV-PA conduit between 2002 and 2011. Details of reoperations/interventions due to conduit obstruction prior to bidirectional superior cavopulmonary anastomosis (BSCPA) were collected. Overall pre-BSCPA mortality was 17%, early mortality after Norwood, 6%. Early angiography was performed in 34 patients due to desaturation at a median of 8 days after the Norwood operation. Fifteen patients (16%) were diagnosed with RV-PA conduit stenosis that required treatment. The location of the conduit stenosis was significantly different in the patients with non-ringed (proximal) and the patients with ring-enforced conduit (distal), P = 0.004. In 6 patients, a surgical revision of the conduit was performed; 3 of them died prior to BSCPA. Another 6 patients had a stent implantation and 3 were treated with balloon dilatation followed by a BSCPA in the subsequent 2 weeks. All patients who were treated interventionally for RV-PA conduit obstruction had a successful BSCPA. Patients who received a surgical RV-PA conduit revision had a significantly higher interstage (P = 0.044) and overall mortality (P = 0.011) than those who received a stent or balloon dilatation of the stenosis followed by an early BSCPA. RV-PA conduit obstruction after Norwood I procedure in patients with HLHS can be safely and effectively treated by stent implantation, balloon dilatation and early BSCPA. Surgical revision of the RV-PA conduit can be reserved for patients in whom an interventional approach fails, and an early BSCPA is not an option.

  5. Outcomes associated with comorbid atrial fibrillation and heart failure in Medicare beneficiaries with acute coronary syndrome.

    Science.gov (United States)

    Chen, Shih-Yin; Crivera, Concetta; Stokes, Michael; Boulanger, Luke; Schein, Jeff

    2014-02-20

    Atrial fibrillation (AF) and heart failure (HF) are both common comorbid conditions of elderly patients with acute coronary syndrome (ACS), but published data on their associated clinical and economic outcomes are limited. Our study included patients from the Medicare Current Beneficiary Survey with an incident hospitalization for ACS between 03/01/2002 and 12/31/2006. Applying population weights, we identified 795 incident ACS patients, representing more than 2.5 million Medicare beneficiaries. Of this population, 13.1% had comorbid AF, and 22.9% had HF, which were identified from Medicare claims during the 6 months prior to the first ACS event (index date) Subsequent cardiovascular (CV) hospitalizations and mortality were compared using Kaplan-Meier curves. Cox proportional hazards regressions were used to estimate the relative risk of AF and HF on CV events and mortality. Healthcare costs were summarized for the calendar year in which the incident ACS event occurred. HF was associated with a 41% higher risk of mortality (HR = 1.41; 95% confidence interval [CI] 1.05-1.89). Both AF (HR = 1.46; 95% CI 1.14-1.87) and HF (HR = 1.61; 95% CI 1.26-2.06) were associated with higher risks of subsequent CV events. During the year of the incident ACS event, ACS patients with comorbid AF or HF had approximately $18,000 higher total healthcare costs than those without these comorbidities. Using a nationally representative sample of Medicare beneficiaries, we observed a significantly higher clinical and economic burden of patients hospitalized for ACS with comorbid AF and HF compared with those without these conditions.

  6. Risk factors for profuse systemic-to-pulmonary artery collateral burden in hypoplastic left heart syndrome.

    Science.gov (United States)

    Prakash, Ashwin; Satiroglu, Elif; Porras, Diego; McElhinney, Doff B; Keane, John F; Lock, James E; Geva, Tal; King, Wilson; Powell, Andrew J

    2013-08-01

    Risk factors for developing systemic-to-pulmonary artery collaterals (SPCs) in hypoplastic left heart syndrome (HLHS) are unknown. We performed a retrospective case-control study to identify risk factors for developing a profuse SPC burden in HLHS. Angiograms of 439 patients with HLHS (performed <2 years of age) were reviewed using a previously published angiographic grading scale to identify cases (profuse SPC burden, n = 20) and controls (no or minimal SPC burden, n = 35). In univariate analyses, profuse SPC burden was associated with mitral atresia and aortic atresia subtype (MA/AA) (65% vs 14%, p <0.0001), use of a Sano shunt (70% vs 37%, p = 0.03), longer log-transformed durations of intensive care unit stay (p = 0.02), hospital stay (p = 0.002), pleural drainage (p = 0.008) after stage 1 palliation, lower oxygen saturation at discharge after stage 1 palliation (82 ± 4 vs 85 ± 4%, p = 0.03), and a history of severe shunt obstruction (37% vs 11%, p = 0.04). In a multivariate logistic regression model, profuse SPC burden was associated with MA/AA subtype (odds ratio 6.6), Sano shunt type (odds ratio 8.6), and log-transformed duration of hospital stay after stage 1 (odds ratio 7.9, model p <0.0001, area under the curve 0.88). Nonassociated parameters included fetal aortic valve dilation, severe cyanotic episodes, number of days with open sternum or number of additional exploratory thoracotomies after stage 1 palliation, pulmonary vein stenosis, and restrictive atrial septal defect. In conclusion, in the present case-control study of patients with HLHS, the development of a profuse SPC burden was associated with MA/AA subtype, Sano shunt type, and longer duration of hospital stay after stage 1 palliation. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. Initial shunt type at the Norwood operation impacts myocardial function in hypoplastic left heart syndrome.

    Science.gov (United States)

    Ruotsalainen, Hanna K; Pihkala, Jaana; Salminen, Jukka; Hornberger, Lisa K; Sairanen, Heikki; Ojala, Tiina

    2017-08-01

    We investigated the impact of initial shunt type, a Blalock-Taussig (BT) shunt versus a right ventricle to pulmonary artery conduit (RV-PA) on myocardial function at different stages of surgical palliation in patients with hypoplastic left heart syndrome (HLHS). A population-based cohort of 63 Finnish children with HLHS (BT n  = 23, RV-PA n  = 40) born between 2003 and 2010 were studied retrospectively by echocardiography prior to Stages 1, 2 and 3 palliation and 0.5-3 years after Stage 3. For comparison of systolic myocardial function, we evaluated the RV fractional area change (FAC), strain, strain rate and mechanical synchrony from the apical 4-chamber view by velocity vector imaging. There were no intergroup differences in demographics during the study period. At baseline, no intergroup differences were detected in RV systolic myocardial function. Before Stage 2, RV FAC was higher ( P  = 0.03) in the RV-PA conduit group. At Stage 3, an increase in all systolic myocardial functional parameters was observed in the BT shunt group. After Stage 3, the BT shunt group had better RV systolic function. In multiple regression analysis, the shunt type and the stage of palliation had an impact on myocardial function. Although patients with HLHS initially palliated with a BT shunt demonstrate lower RV FAC after Stage I, RV FAC improves after Stage 2 with better systolic performance after Stage 3 compared with those initially palliated with an RV-PA conduit. © The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  8. The Optimal Timing of Stage 2 Palliation for Hypoplastic Left Heart Syndrome: An Analysis of the Pediatric Heart Network Single Ventricle Reconstruction Trial Public Data Set.

    Science.gov (United States)

    Meza, James M; Hickey, Edward J; Blackstone, Eugene H; Jaquiss, Robert D B; Anderson, Brett R; Williams, William G; Cai, Sally; Van Arsdell, Glen S; Karamlou, Tara; McCrindle, Brian W

    2017-10-31

    In infants requiring 3-stage single-ventricle palliation for hypoplastic left heart syndrome, attrition after the Norwood procedure remains significant. The effect of the timing of stage 2 palliation (S2P), a physician-modifiable factor, on long-term survival is not well understood. We hypothesized that an optimal interval between the Norwood and S2P that both minimizes pre-S2P attrition and maximizes post-S2P survival exists and is associated with individual patient characteristics. The National Institutes of Health/National Heart, Lung, and Blood Institute Pediatric Heart Network Single Ventricle Reconstruction Trial public data set was used. Transplant-free survival (TFS) was modeled from (1) Norwood to S2P and (2) S2P to 3 years by using parametric hazard analysis. Factors associated with death or heart transplantation were determined for each interval. To account for staged procedures, risk-adjusted, 3-year, post-Norwood TFS (the probability of TFS at 3 years given survival to S2P) was calculated using parametric conditional survival analysis. TFS from the Norwood to S2P was first predicted. TFS after S2P to 3 years was then predicted and adjusted for attrition before S2P by multiplying by the estimate of TFS to S2P. The optimal timing of S2P was determined by generating nomograms of risk-adjusted, 3-year, post-Norwood, TFS versus the interval from the Norwood to S2P. Of 547 included patients, 399 survived to S2P (73%). Of the survivors to S2P, 349 (87%) survived to 3-year follow-up. The median interval from the Norwood to S2P was 5.1 (interquartile range, 4.1-6.0) months. The risk-adjusted, 3-year, TFS was 68±7%. A Norwood-S2P interval of 3 to 6 months was associated with greatest 3-year TFS overall and in patients with few risk factors. In patients with multiple risk factors, TFS was severely compromised, regardless of the timing of S2P and most severely when S2P was performed early. No difference in the optimal timing of S2P existed when stratified by

  9. Gastrointestinal symptoms and autism spectrum disorder: links and risks – a possible new overlap syndrome

    Directory of Open Access Journals (Sweden)

    Wasilewska J

    2015-09-01

    Full Text Available Jolanta Wasilewska, Mark Klukowski Department of Pediatrics, Gastroenterology and Allergology, Medical University of Bialystok, Bialystok, Poland Abstract: Autism spectrum disorder (ASD is a genetically determined neurodevelopmental brain disorder presenting with restricted, repetitive patterns of behaviors, interests, and activities, or persistent deficits in social communication and social interaction. ASD is characterized by many different clinical endophenotypes and is potentially linked with certain comorbidities. According to current recommendations, children with ASD are at risk of having alimentary tract disorders – mainly, they are at a greater risk of general gastrointestinal (GI concerns, constipation, diarrhea, and abdominal pain. GI symptoms may overlap with ASD core symptoms through different mechanisms. These mechanisms include multilevel pathways in the gut–brain axis contributing to alterations in behavior and cognition. Shared pathogenetic factors and pathophysiological mechanisms possibly linking ASD and GI disturbances, as shown by most recent studies, include intestinal inflammation with or without autoimmunity, immunoglobulin E-mediated and/or cell-mediated GI food allergies as well as gluten-related disorders (celiac disease, wheat allergy, non-celiac gluten sensitivity, visceral hypersensitivity linked with functional abdominal pain, and dysautonomia linked with GI dysmotility and gastroesophageal reflux. Dysregulation of the gut microbiome has also been shown to be involved in modulating GI functions with the ability to affect intestinal permeability, mucosal immune function, and intestinal motility and sensitivity. Metabolic activity of the microbiome and dietary components are currently suspected to be associated with alterations in behavior and cognition also in patients with other neurodegenerative diseases. All the above-listed GI factors may contribute to brain dysfunction and neuroinflammation depending upon

  10. Ocular motility disturbances (Duane retraction syndrome and double elevator palsy with congenital heart disease, a rare association with Goldenhar syndrome-A case report

    Directory of Open Access Journals (Sweden)

    Verma Manju

    1992-01-01

    Full Text Available This report is a case of a 4 year old male child who was admitted for meningitis. On clinical examination he was diagnosed as a case of oculo-suriculo-vertebral dysplasia with congenital heart disease, i.e., tetralogy of Fallots besides his presenting picture of meningitis. During his ophthalmic checkup for the conspicuous presence of epibulbar dermoid, he was discovered to have upper lid coloboma, double elevator palsy, and Grade 1 Duane retraction syndrome in his right eye while the pathognomic feature, a dermolipoma, was present in the left eye. The oculo-auriculo-vertebral dysplasia, as described by Goldenhar, is a disease complex of structures developed from the Ist and IInd branchial arch. The important feature of this case is the bilateral involvement of the disease complex over and above the presence of ocular motility disorders--Duane retraction syndrome and double elevator palsy.

  11. C-reactive protein and lipoprotein-a as markers of coronary heart disease in polycystic ovary syndrome.

    Science.gov (United States)

    Güdücü, Nilgün; Işçi, Herman; Yiğiter, Alin Başgül; Dünder, Ilkkan

    2012-01-01

    The aim of this study was to investigate the risk factors of coronary heart disease, CRP and Lipoprotein-a in polycystic ovary syndrome patients. Prospectively collected data of polycystic ovary syndrome patients (n=62) and control group (n=40) were compared. PCOS patients had higher HOMA-IR, CRP, DHEAS, free testosterone, FAI, LH and prolactin levels when compared to the control group. Lipoprotein-a levels did not differ between the groups. The obese PCOS group had statistically significantly higher fasting blood glucose, total cholesterol, triglyceride, free testosterone, insulin, CRP and HOMA-IR and statistically significantly lower HDL and SHBG when compared to normal weight PCOS persons. Fasting blood glucose, total cholesterol, LDL, SHBG, CRP, Lipoprotein-a, FSH, LH, TSH, DHEAS and prolactin levels did not differ between the normal weight and obese control groups. CRP levels increase in polycystic ovary syndrome patients and can be used as a marker of coronary heart disease. Future studies can be directed at treatments to decrease CRP levels, including antiinflammatory treatments.

  12. Heart Activity and Autistic Behavior in Infants and Toddlers with Fragile X Syndrome

    Science.gov (United States)

    Roberts, Jane E.; Tonnsen, Bridgette; Robinson, Ashley; Shinkareva, Svetlana V.

    2012-01-01

    The present study contrasted physiological arousal in infants and toddlers with fragile X syndrome to typically developing control participants and examined physiological predictors early in development to autism severity later in development in fragile X syndrome. Thirty-one males with fragile X syndrome (ages 8-40 months) and 25 age-matched…

  13. Linking the Congenital Heart Surgery Databases of the Society of Thoracic Surgeons and the Congenital Heart Surgeons’ Society: Part 2—Lessons Learned and Implications

    Science.gov (United States)

    Jacobs, Jeffrey P.; Pasquali, Sara K.; Austin, Erle; Gaynor, J. William; Backer, Carl; Hirsch-Romano, Jennifer C.; Williams, William G.; Caldarone, Christopher A.; McCrindle, Brian W.; Graham, Karen E.; Dokholyan, Rachel S.; Shook, Gregory J.; Poteat, Jennifer; Baxi, Maulik V.; Karamlou, Tara; Blackstone, Eugene H.; Mavroudis, Constantine; Mayer, John E.; Jonas, Richard A.; Jacobs, Marshall L.

    2014-01-01

    Purpose A link has been created between the Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD) and the Congenital Heart Surgeons’ Society Database (CHSS-D). Five matrices have been created that facilitate the automated identification of patients who are potentially eligible for the five active CHSS studies using the STS-CHSD. These matrices are now used to (1) estimate the denominator of patients eligible for CHSS studies and (2) compare “eligible and enrolled patients” to “potentially eligible and not enrolled patients” to assess the generalizability of CHSS studies. Methods The matrices were applied to 40 consenting institutions that participate in both the STS-CHSD and the CHSS to (1) estimate the denominator of patients that are potentially eligible for CHSS studies, (2) estimate the completeness of enrollment of patients eligible for CHSS studies among all CHSS sites, (3) estimate the completeness of enrollment of patients eligible for CHSS studies among those CHSS institutions participating in each CHSS cohort study, and (4) compare “eligible and enrolled patients” to “potentially eligible and not enrolled patients” to assess the generalizability of CHSS studies. The matrices were applied to all participants in the STS-CHSD to identify patients who underwent frequently performed operations and compare “eligible and enrolled patients” to “potentially eligible and not enrolled patients” in following five domains: (1) age at surgery, (2) gender, (3) race, (4) discharge mortality, and (5) postoperative length of stay. Completeness of enrollment was defined as the number of actually enrolled patients divided by the number of patients identified as being potentially eligible for enrollment. Results For the CHSS Critical Left Ventricular Outflow Tract Study (LVOTO) study, for the Norwood procedure, completeness of enrollment at centers actively participating in the LVOTO study was 34%. For the Norwood operation

  14. Linking the Congenital Heart Surgery Databases of the Society of Thoracic Surgeons and the Congenital Heart Surgeons’ Society: Part 1—Rationale and Methodology

    Science.gov (United States)

    Jacobs, Jeffrey P.; Pasquali, Sara K.; Austin, Erle; Gaynor, J. William; Backer, Carl; Hirsch-Romano, Jennifer C.; Williams, William G.; Caldarone, Christopher A.; McCrindle, Brian W.; Graham, Karen E.; Dokholyan, Rachel S.; Shook, Gregory J.; Poteat, Jennifer; Baxi, Maulik V.; Karamlou, Tara; Blackstone, Eugene H.; Mavroudis, Constantine; Mayer, John E.; Jonas, Richard A.; Jacobs, Marshall L.

    2014-01-01

    Purpose The Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD) is the largest Registry in the world of patients who have undergone congenital and pediatric cardiac surgical operations. The Congenital Heart Surgeons’ Society Database (CHSS-D) is an Academic Database designed for specialized detailed analyses of specific congenital cardiac malformations and related treatment strategies. The goal of this project was to create a link between the STS-CHSD and the CHSS-D in order to facilitate studies not possible using either individual database alone and to help identify patients who are potentially eligible for enrollment in CHSS studies. Methods Centers were classified on the basis of participation in the STS-CHSD, the CHSS-D, or both. Five matrices, based on CHSS inclusionary criteria and STS-CHSD codes, were created to facilitate the automated identification of patients in the STS-CHSD who meet eligibility criteria for the five active CHSS studies. The matrices were evaluated with a manual adjudication process and were iteratively refined. The sensitivity and specificity of the original matrices and the refined matrices were assessed. Results In January 2012, a total of 100 centers participated in the STS-CHSD and 74 centers participated in the CHSS. A total of 70 centers participate in both and 40 of these 70 agreed to participate in this linkage project. The manual adjudication process and the refinement of the matrices resulted in an increase in the sensitivity of the matrices from 93% to 100% and an increase in the specificity of the matrices from 94% to 98%. Conclusion Matrices were created to facilitate the automated identification of patients potentially eligible for the five active CHSS studies using the STS-CHSD. These matrices have a sensitivity of 100% and a specificity of 98%. In addition to facilitating identification of patients potentially eligible for enrollment in CHSS studies, these matrices will allow (1) estimation of

  15. Variation in readmission and mortality following hospitalisation with a diagnosis of heart failure: prospective cohort study using linked data.

    Science.gov (United States)

    Korda, Rosemary J; Du, Wei; Day, Cathy; Page, Karen; Macdonald, Peter S; Banks, Emily

    2017-03-21

    Hospitalisation for heart failure is common and post-discharge outcomes, including readmission and mortality, are often poor and are poorly understood. The purpose of this study was to examine patient- and hospital-level variation in the risk of 30-day unplanned readmission and mortality following discharge from hospital with a diagnosis of heart failure. Prospective cohort study using data from the Sax Institute's 45 and Up Study, linking baseline survey (Jan 2006-April 2009) to hospital and mortality data (to Dec 2011). Primary outcomes in those admitted to hospital with heart failure included unplanned readmission, mortality and combined unplanned readmission/mortality, within 30 days of discharge. Multilevel models quantified the variation in outcomes between hospitals and examined associations with patient- and hospital-level characteristics. There were 5074 participants with a heart failure admission discharged from 251 hospitals; 1052 (21%) had unplanned readmissions, 186 (3.7%) died, and 1146 (23%) had either/both outcomes within 30 days of discharge. Crude outcomes varied across hospitals, but between-hospital variation explained little of the total variation in outcomes (intraclass correlation coefficients (ICC) after inclusion of patient factors: 30-day unplanned readmission ICC = 0.0125 (p = 0.24); death ICC = 0.0000 (p > 0.99); unplanned readmission/death ICC = 0.0266 (p = 0.07)). Patient characteristics associated with a higher risk of unplanned readmission included: being male (male vs female, adjusted odds ratio (aOR) = 1.18, 95% CI: 1.00-1.37); prior hospitalisation for cardiovascular disease (aOR = 1.44, 1.08-1.91) and for anemia (aOR = 1.36, 1.14-1.63); comorbidities at admission (severe vs none: aOR = 1.26, 1.03-1.54); lower body-mass-index (obese vs normal weight: aOR = 0.77, 0.63-0.94); and lower social interaction scores. Similarly, risk of 30-day mortality was associated with patient- rather than

  16. Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.

    OpenAIRE

    Naves, Luciana A.; Daly, Adrian Francis; Dias, Luiz Augusto; Yuan, Bo; Zakir, Juliano Coelho Oliveira; Barra, Gustavo Barcellos; Palmeira, Leonor; Villa, Chiara; Trivellin, Giampaolo; Junior, Armindo Jreige; Neto, Florencio Figueiredo Cavalcante; Liu, Pengfei; Pellegata, Natalia S.; Stratakis, Constantine A.; Lupski, James R.

    2016-01-01

    X-linked acro-gigantism (X-LAG) syndrome is a newly described disease caused by microduplications on chromosome Xq26.3 leading to copy number gain of GPR101. We describe the clinical progress of a sporadic male X-LAG syndrome patient with an Xq26.3 microduplication, highlighting the aggressive natural history of pituitary tumor growth in the absence of treatment. The patient first presented elsewhere aged 5 years 8 months with a history of excessive growth for >2 years. His height was 163 cm,...

  17. Comparison of the HEART and TIMI Risk Scores for Suspected Acute Coronary Syndrome in the Emergency Department.

    Science.gov (United States)

    Sun, Benjamin C; Laurie, Amber; Fu, Rongwei; Ferencik, Maros; Shapiro, Michael; Lindsell, Christopher J; Diercks, Deborah; Hoekstra, James W; Hollander, Judd E; Kirk, J Douglas; Peacock, W Frank; Anantharaman, Venkataraman; Pollack, Charles V

    2016-03-01

    The emergency department evaluation for suspected acute coronary syndrome (ACS) is common, costly, and challenging. Risk scores may help standardize clinical care and screening for research studies. The Thrombolysis in Myocardial Infarction (TIMI) and HEART are two commonly cited risk scores. We tested the null hypothesis that the TIMI and HEART risk scores have equivalent test characteristics. We analyzed data from the Internet Tracking Registry of Acute Coronary Syndromes (i*trACS) from 9 EDs on patients with suspected ACS, 1999-2001. We excluded patients with an emergency department diagnosis consistent with ACS, or without sufficient data to calculate TIMI and HEART scores. The primary outcome was 30-day major adverse cardiovascular events, including all-cause death, acute myocardial infarction, and urgent revascularization. We describe test characteristics of the TIMI and HEART risk scores. The study cohort included 8255 patients with 508 (6.2%) 30-day major adverse cardiovascular events. Receiver operating curve and reclassification analyses favored HEART [c statistic: 0.753, 95% confidence interval (CI): 0.733-0.773; continuous net reclassification improvement: 0.608, 95% CI: 0.527-0.689] over TIMI (c statistic: 0.678, 95% CI: 0.655-0.702). A HEART score 0-3 [negative predictive value (NPV) 0.982, 95% CI: 0.978-0.986; positive predictive value (PPV) 0.103, 95% CI: 0.094-0.113; likelihood ratio (LR) positive 1.76; LR negative 0.28] demonstrates similar or superior NPV/PPV/LR compared with TIMI = 0 (NPV 0.978, 95% CI: 0.971-0.983; PPV 0.077, 95% CI: 0.071-0.084; LR positive 1.28; LR negative 0.35) and TIMI = 0-1 (NPV 0.963, 95% CI: 0.958-0.968; PPV 0.102, 95% CI: 0.092-0.113; LR positive 1.73; LR negative 0.58). The HEART score has better discrimination than TIMI and outperforms TIMI within previously published "low-risk" categories.

  18. X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis.

    Science.gov (United States)

    Gallagher, Joel; Adams, Juan; Hintermeyer, Mary; Torgerson, Troy R; Lopez-Guisa, Jesus; Ochs, Hans D; Szabo, Sara; Salib, Mina; Verbsky, James; Routes, John

    2016-08-01

    X-linked hyper IgM syndrome (XHIGM) is a combined immunodeficiency caused by mutations in the CD40 ligand (CD40L) gene that typically results in decreased or absent CD40L expression on activated T cells, leading to defective class switching and somatic hypermutation. We describe an infant who presented with respiratory failure due to pulmonary alveolar proteinosis (PAP) with a novel damaging missense mutation in the CD40L gene. Whole exome sequencing (WES) was used to identify a mutation in the CD40L gene. CD40L expression and function were determined by flow cytometry. A 5-month-old previously-healthy male presented with respiratory failure and diffuse pulmonary ground glass opacities on CT scan of the chest. Laboratory evaluation revealed an undetectable IgG, normal IgA, and elevated IgM. A bronchoalveolar lavage demonstrated pulmonary alveolar proteinosis. WES demonstrated a c.608G > C mutation in the CD40L gene resulting in p.R203T. Flow cytometry demonstrated normal CD40L expression on activated T cells but absent binding of CD40-Ig to CD40L on activated patient T cells. The clinical manifestations of XHIGM in our patient had several unique features, including the presentation with PAP, normal serum IgA, and expression of non-functional CD40L on activated T cells. To our knowledge, this is the first published case of PAP in a patient with XHIGM.

  19. "Gum bug, leave my heart alone!"--epidemiologic and mechanistic evidence linking periodontal infections and atherosclerosis.

    Science.gov (United States)

    Kebschull, M; Demmer, R T; Papapanou, P N

    2010-09-01

    Evidence from epidemiologic studies suggests that periodontal infections are independently associated with subclinical and clinical atherosclerotic vascular disease. Although the strength of the reported associations is modest, the consistency of the data across diverse populations and a variety of exposure and outcome variables suggests that the findings are not spurious or attributable only to the effects of confounders. Analysis of limited data from interventional studies suggests that periodontal treatment generally results in favorable effects on subclinical markers of atherosclerosis, although such analysis also indicates considerable heterogeneity in responses. Experimental mechanistic in vitro and in vivo studies have established the plausibility of a link between periodontal infections and atherogenesis, and have identified biological pathways by which these effects may be mediated. However, the utilized models are mostly mono-infections of host cells by a limited number of 'model' periodontal pathogens, and therefore may not adequately portray human periodontitis as a polymicrobial, biofilm-mediated disease. Future research must identify in vivo pathways in humans that may (i) lead to periodontitis-induced atherogenesis, or (ii) result in treatment-induced reduction of atherosclerosis risk. Data from these studies will be essential for determining whether periodontal interventions have a role in the primary or secondary prevention of atherosclerosis.

  20. Impact of the Heart WATCH Program on Patients at Risk of Developing Metabolic Syndrome, Prediabetes or Cardiovascular Disease

    Directory of Open Access Journals (Sweden)

    Jennifer Fink

    2015-04-01

    Full Text Available Purpose: Metabolic syndrome is a set of metabolic risk factors associated with increased risk of developing cardiovascular disease and type 2 diabetes mellitus. We retrospectively evaluated the effectiveness of a lifestyle modification program (Heart WATCH geared toward reducing development of chronic disease in women deemed at risk for metabolic syndrome, prediabetes and/or cardiovascular disease. Methods: Our institution’s Heart WATCH program consists of screening sessions with a multidisciplinary team (physician/nurse, nutritionist and psychologist, a minimum of three visits with a nurse practitioner and weekly follow-up phone calls for a 14-week period. Sociodemographic variables were obtained at initial visit. Biometric testing indices and self-reported clinical and behavioral health measures were recorded pre- and postintervention, and compared using paired t-tests or McNemar’s test as appropriate. Results: Heart WATCH enrolled 242 women from November 2006 to April 2014, and 193 (80% completed all phases of the 14-week lifestyle intervention. Postintervention, participants demonstrated improved health status in all areas and improved significantly in the following areas: diet/nutrition (P=0.014, exercise (P<0.001, stress (P<0.0001, quality of life (P=0.003, weight (P<0.0001, waist circumference (P=0.01 and total cholesterol (P=0.019. Clinically meaningful improvements were realized by participants who moved to a healthier classification in a number of vital signs and blood panel indices. Conclusions: These findings suggest the “elevated risk profile” for women with components of metabolic syndrome can be reversed through a lifestyle program focused on reducing risk factors associated with cardiovascular disease and prediabetes. Future research is needed to determine mechanisms of risk reduction as well as optimal patient-centered and culturally appropriate approaches to weight management.

  1. Interstage evaluation of homograft-valved right ventricle to pulmonary artery conduits for palliation of hypoplastic left heart syndrome.

    Science.gov (United States)

    Sandeep, Nefthi; Punn, Rajesh; Balasubramanian, Sowmya; Smith, Shea N; Reinhartz, Olaf; Zhang, Yulin; Wright, Gail E; Peng, Lynn F; Wise-Faberowski, Lisa; Hanley, Frank L; McElhinney, Doff B

    2018-04-01

    Palliation of hypoplastic left heart syndrome with a standard nonvalved right ventricle to pulmonary artery conduit results in an inefficient circulation in part due to diastolic regurgitation. A composite right ventricle pulmonary artery conduit with a homograft valve has a hypothetical advantage of reducing regurgitation, but may differ in the propensity for stenosis because of valve remodeling. This retrospective cohort study included 130 patients with hypoplastic left heart syndrome who underwent a modified stage 1 procedure with a right ventricle to pulmonary artery conduit from 2002 to 2015. A composite valved conduit (cryopreserved homograft valve anastomosed to a polytetrafluoroethylene tube) was placed in 100 patients (47 aortic, 32 pulmonary, 13 femoral/saphenous vein, 8 unknown), and a nonvalved conduit was used in 30 patients. Echocardiographic functional parameters were evaluated before and after stage 1 palliation and before the bidirectional Glenn procedure, and interstage interventions were assessed. On competing risk analysis, survival over time was better in the valved conduit group (P = .040), but this difference was no longer significant after adjustment for surgical era. There was no significant difference between groups in the cumulative incidence of bidirectional Glenn completion (P = .15). Patients with a valved conduit underwent more interventions for conduit obstruction in the interstage period, but this difference did not reach significance (P = .16). There were no differences between groups in echocardiographic parameters of right ventricle function at baseline or pre-Glenn. In this cohort of patients with hypoplastic left heart syndrome, inclusion of a valved right ventricle to pulmonary artery conduit was not associated with any difference in survival on adjusted analysis and did not confer an identifiable benefit on right ventricle function. Copyright © 2017 The American Association for Thoracic Surgery. Published by Elsevier

  2. Review of the relationship of restless legs syndrome and periodic limb movements in sleep to hypertension, heart disease, and stroke.

    Science.gov (United States)

    Walters, Arthur S; Rye, David B

    2009-05-01

    Evidence is reviewed documenting an intimate relationship among restless legs syndrome (RLS) / periodic limb movements in sleep (PLMS) and hypertension and cardiovascular and cerebrovascular disease. Sympathetic overactivity is associated with RLS/PLMS, as manifested by increased pulse rate and blood pressure coincident with PLMS. Causality is far from definitive. Mechanisms are explored as to how RLS/PLMS may lead to high blood pressure, heart disease, and stroke: (a) the sympathetic hyperactivity associated with RLS/PLMS may lead to daytime hypertension that in turn leads to heart disease and stroke; (b) in the absence of daytime hypertension, this sympathetic hyperactivity may predispose to heart disease and stroke either directly or indirectly via atherosclerotic plaque formation and rupture; and (c) comorbidities associated with RLS/PLMS, such as renal failure, diabetes, iron deficiency, and insomnia, may predispose to heart disease and stroke. One theoretical cause for sympathetic hyperactivity is insufficient All diencephalospinal dopaminergic neuron inhibition of sympathetic preganglionic neurons residing in the intermediolateral cell columns of the spinal cord. We cannot exclude the possibility that peripheral vascular, cardiovascular, and cerebrovascular disease may also contribute to RLS/PLMS, and mechanisms for these possibilities are also discussed.

  3. Contribution of the human immunodeficiency virus/acquired immunodeficiency syndrome epidemic to de novo presentations of heart disease in the Heart of Soweto Study cohort.

    Science.gov (United States)

    Sliwa, Karen; Carrington, Melinda J; Becker, Anthony; Thienemann, Friedrich; Ntsekhe, Mpiko; Stewart, Simon

    2012-04-01

    The contemporary impact of the human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) epidemic on heart disease in South Africa (>5 million people affected) is unknown. The Heart of Soweto Study provides a unique opportunity to identify the contribution of cardiac manifestations of this epidemic to de novo presentations of heart disease in an urban African community in epidemiological transition. Chris Hani Baragwanath Hospital services the >1 million people living in Soweto, South Africa. A prospective, clinical registry captured data from all de novo cases of heart disease presenting to the Cardiology Unit during 2006-08. We describe all cases where HIV/AIDS was concurrently diagnosed. Overall, 518 of 5328 de novo cases of heart disease were identified as HIV-positive (9.7%) with 54% of these prescribed highly active anti-retroviral therapies on presentation. Women (62%) and Africans (97%) predominated with women being significantly younger than men 38 ± 13 vs. 42 ± 13 years (P = 0.002). The most common primary diagnosis attributable to HIV/AIDS was HIV-related cardiomyopathy (196 cases, 38%); being prescribed more anti-retroviral therapy (127/196 vs. 147/322; odds ratio 2.85, 95% confidence interval 1.81-3.88) with higher viral loads [median 110 000 (inter-quartile range 26 000-510 000) vs. 19 000 (3200-87 000); P = 0.018] and a lower CD4 count [median 180 (71-315) vs. 211 (96-391); P = 0.019] than the rest. An additional 128 cases (25%) were diagnosed with pericarditis/pericardial effusion with a range of other concurrent diagnoses evident, including 42 cases (8.1%) of HIV-related pulmonary arterial hypertension. Only 14 of all 581 cases of coronary artery disease (CAD) (2.4%, mean age 41 ± 13 years) were confirmed HIV-positive. Cardiac manifestations of HIV/AIDS identified within this cohort were relatively infrequent. While HIV-related cardiomyopathy and pericardial disease remain important targets for early detection and treatment in

  4. The role of levosimendan in acute heart failure complicating acute coronary syndrome: A review and expert consensus opinion.

    Science.gov (United States)

    Nieminen, Markku S; Buerke, Michael; Cohen-Solál, Alain; Costa, Susana; Édes, István; Erlikh, Alexey; Franco, Fatima; Gibson, Charles; Gorjup, Vojka; Guarracino, Fabio; Gustafsson, Finn; Harjola, Veli-Pekka; Husebye, Trygve; Karason, Kristjan; Katsytadze, Igor; Kaul, Sundeep; Kivikko, Matti; Marenzi, Giancarlo; Masip, Josep; Matskeplishvili, Simon; Mebazaa, Alexandre; Møller, Jacob E; Nessler, Jadwiga; Nessler, Bohdan; Ntalianis, Argyrios; Oliva, Fabrizio; Pichler-Cetin, Emel; Põder, Pentti; Recio-Mayoral, Alejandro; Rex, Steffen; Rokyta, Richard; Strasser, Ruth H; Zima, Endre; Pollesello, Piero

    2016-09-01

    Acute heart failure and/or cardiogenic shock are frequently triggered by ischemic coronary events. Yet, there is a paucity of randomized data on the management of patients with heart failure complicating acute coronary syndrome, as acute coronary syndrome and cardiogenic shock have frequently been defined as exclusion criteria in trials and registries. As a consequence, guideline recommendations are mostly driven by observational studies, even though these patients have a particularly poor prognosis compared to heart failure patients without signs of coronary artery disease. In acute heart failure, and especially in cardiogenic shock related to ischemic conditions, vasopressors and inotropes are used. However, both pathophysiological considerations and available clinical data suggest that these treatments may have disadvantageous effects. The inodilator levosimendan offers potential benefits due to a range of distinct effects including positive inotropy, restoration of ventriculo-arterial coupling, increases in tissue perfusion, and anti-stunning and anti-inflammatory effects. In clinical trials levosimendan improves symptoms, cardiac function, hemodynamics, and end-organ function. Adverse effects are generally less common than with other inotropic and vasoactive therapies, with the notable exception of hypotension. The decision to use levosimendan, in terms of timing and dosing, is influenced by the presence of pulmonary congestion, and blood pressure measurements. Levosimendan should be preferred over adrenergic inotropes as a first line therapy for all ACS-AHF patients who are under beta-blockade and/or when urinary output is insufficient after diuretics. Levosimendan can be used alone or in combination with other inotropic or vasopressor agents, but requires monitoring due to the risk of hypotension. Copyright © 2016 The Authors. Published by Elsevier Ireland Ltd.. All rights reserved.

  5. Social gradient in the metabolic syndrome not explained by psychosocial and behavioural factors: evidence from the Copenhagen City Heart Study

    DEFF Research Database (Denmark)

    Prescott, Eva; Godtfredsen, Nina; Osler, Merete

    2007-01-01

    BACKGROUND: Psychosocial stressors may mediate the effect of social status on the metabolic syndrome (MS). The paper explores this hypothesis in a random sample of the general population. DESIGN: A total of 3462 women and 2576 men aged 20-97 years from the Copenhagen City Heart Study. METHODS...... and depression, perceived stress, social network and cohabitation. Behavioural factors were smoking, alcohol and physical activity. RESULTS: There was an inverse social gradient in the prevalence of the seven components of the MS. The age-adjusted odds ratio (OR) (95% confidence interval) for occupying the most...

  6. Perioperative Anaesthetic Management of a Patient of Gilbert’s Syndrome with Adult Congenital Heart Disease - A Rare Presentation

    Directory of Open Access Journals (Sweden)

    Sambhunath Das

    2014-11-01

    Full Text Available Gilbert's syndrome is a hereditary condition with the genetic mutation of the enzyme uridine diphosphate glucuronosyltransferase, characterized by intermittent jaundice in the absence of hemolysis or underlying liver disease. These patients develop jaundice when subjected to fasting, stress and exercise. Majority of anaesthetics are metabolized by liver. Anaesthesia, surgery and cardiopulmonary bypass (CPB can act as triggers to hepatic injury. The successful perioperative management of an adult congenital heart disease patient for atrial septal defect closure under cardiopulmonary bypass was discussed in this report.

  7. Parents' perceptions during the transition to home for their child with a congenital heart defect: How can we support families of children with hypoplastic left heart syndrome?

    Science.gov (United States)

    March, Sarita

    2017-07-01

    The aim of the study was to explore the literature related to transitions in healthcare between the hospital and home that caregivers experience with a child who has a congenital heart defect (CHD), specifically related to hypoplastic left heart syndrome (HLHS). A systematic literature review was conducted searching OVID Medline, CINAHL, and PubMed to discover the caregivers' perceptions on their transitions between hospital care and home care of their child with a CHD. Articles included those with focus on the transitions of caregivers between hospital and home care for children with CHD. Excluded articles were studies focused on adolescents, transition to adult healthcare, mortality results, other diseases associated with CHDs, comparison of CHD treatments, feasibility studies, differences in care between hospitals, home monitoring, and comparison of videoconference and telephone home communication. Ten articles were selected. Many parents voiced their concerns with feeding their child, learning medical skills and knowledge, reported a disrupted relationship between parents and their child, and identified stress and anxiety associated with taking care of a child with a CHD. There were limited studies on caregivers' transitions with a child with HLHS, but there also was limited focus on the caregivers' experiences with transitions between hospital and home care for their child with any CHD. Research on the transition experience between hospital care and home care for caregivers of children born with a CHD, and a specific focus on HLHS from the caregivers' viewpoint, would provide insight into the perspective of caregivers during the numerous transitions. © 2017 Wiley Periodicals, Inc.

  8. Anesthetic Implications of Emergent Cesarean Section in a Parturient with Marfan Syndrome Complicated by Ascending Aortic Aneurysm and Heart Failure

    Directory of Open Access Journals (Sweden)

    Young Sung Kim

    2014-07-01

    Full Text Available Cardiovascular comorbidities to the Marfan syndrome may induce hemodynamic instability especially in the parturients during labor or delivery. For anesthesiologists, it is challenging to maintain hemodynamic stability during Cesarean section in those patients with Marfan syndrome. Remifentanil is an ultra-short-acting opioid with rapid onset and offset of action which provides cardiovascular stability during surgery. Together with remifentanil, the use of a laryngeal mask airway can reduce the risk of hypertensive response followed by tracheal intubation. We describe the successful administration of remifentanil and application of laryngeal mask airway for emergent Cesarean section performed under general anesthesia in a patient with Marfan syndrome complicated by ascending aortic aneurysm and heart failure. The use of remifentanil (loading dose of 1 μg/kg for 1 min, 2 min before induction; thereafter continuous infusion dose of 0.1 μg/kg/min was useful to maintain hemodynamic stability of the parturient throughout the surgery without neonatal respiratory depression. Keywords: Ascending Aortic Aneurysm; Cesarean section; Laryngeal mask airway; Marfan syndrome; Remifentanil

  9. High-sensitivity cardiac troponin I and risk of heart failure in patients with suspected acute coronary syndrome: a cohort study.

    Science.gov (United States)

    Stelzle, Dominik; Shah, Anoop S V; Anand, Atul; Strachan, Fiona E; Chapman, Andrew R; Denvir, Martin A; Mills, Nicholas L; McAllister, David A

    2018-01-01

    Heart failure may occur following acute myocardial infarction, but with the use of high-sensitivity cardiac troponin assays we increasingly diagnose patients with minor myocardial injury. Whether troponin concentrations remain a useful predictor of heart failure in patients with acute coronary syndrome is uncertain. We identified all consecutive patients (n = 4748) with suspected acute coronary syndrome (61 ± 16 years, 57% male) presenting to three secondary and tertiary care hospitals. Cox-regression models were used to evaluate the association between high-sensitivity cardiac troponin I concentration and subsequent heart failure hospitalization. C-statistics were estimated to evaluate the predictive value of troponin for heart failure hospitalization. Over 2071 years of follow-up there were 83 heart failure hospitalizations. Patients with troponin concentrations above the upper reference limit (URL) were more likely to be hospitalized with heart failure than patients below the URL (118/1000 vs. 17/1000 person years, adjusted hazard ratio: 7.0). Among patients with troponin concentrations acute coronary syndrome. The strongest associations were observed in patients with troponin concentrations in the normal reference range, in whom high-sensitivity cardiac troponin assays identify those at increased risk of heart failure who may benefit from further investigation and treatment. © The Author 2017. Published on behalf of the European Society of Cardiology

  10. Heart Attack

    Science.gov (United States)

    ... properly causes your body's blood sugar levels to rise, increasing your risk of heart attack. Metabolic syndrome. This occurs when you have obesity, high blood pressure and high blood sugar. Having metabolic ...

  11. Hearts and minds: linking vascular rigidity and aerobic fitness with cognitive aging.

    Science.gov (United States)

    Gauthier, Claudine Joëlle; Lefort, Muriel; Mekary, Saïd; Desjardins-Crépeau, Laurence; Skimminge, Arnold; Iversen, Pernille; Madjar, Cécile; Desjardins, Michèle; Lesage, Frédéric; Garde, Ellen; Frouin, Frédérique; Bherer, Louis; Hoge, Richard D

    2015-01-01

    status in aging is linked to vascular health, and that preservation of vessel elasticity may be one of the key mechanisms by which physical exercise helps to alleviate cognitive aging. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Maximal exercise electrocardiographic responses and coronary heart disease mortality among men with metabolic syndrome.

    Science.gov (United States)

    Lyerly, G William; Sui, Xuemei; Church, Timothy S; Lavie, Carl J; Hand, Gregory A; Blair, Steven N

    2010-03-01

    To examine the association between abnormal exercise electrocardiographic (E-ECG) test results and mortality (all-cause and that resulting from coronary heart disease [CHD] or cardiovascular disease [CVD]) in a large population of asymptomatic men with metabolic syndrome (MetS). A total of 9191 men (mean age, 46.9 years) met the criteria of having MetS. All completed a maximal E-ECG treadmill test (May 14, 1979, through April 9, 2001) and were without a previous CVD event or diabetes at baseline. Main outcomes were all-cause mortality, mortality due to CHD, and mortality due to CVD. Cox regression analysis was used to quantify the mortality risk according to E-ECG responses. During a follow-up of 14 years, 633 deaths (242 CVD and 150 CHD) were identified. Mortality rates and hazard ratios (HRs) across E-ECG responses were the following: for all-cause mortality: HR, 1.36; 95% confidence interval (CI), 1.09-1.70 for equivocal responses and HR, 1.41; 95% CI, 1.12-1.77 for abnormal responses (P(trend)<.001); for mortality due to CVD: HR, 1.29; 95% CI, 0.88-1.88 for equivocal responses and HR, 2.04; 95% CI, 1.46-2.84 for abnormal responses (P(trend)<.001); and for mortality due to CHD: HR, 1.62; 95% CI, 1.02-2.56 for equivocal responses and HR, 2.45; 95% CI, 1.62-3.69 for abnormal responses (P(trend)<.001). A positive gradient for CHD, CVD, and all-cause mortality rates across E-ECG categories within 3, 4, or 5 MetS components was observed (P<.001 for all). Among men with MetS, an abnormal E-ECG response was associated with higher risk of all-cause, CVD, and CHD mortality. These findings underscore the importance of E-ECG tests to identify men with MetS who are at risk of dying.

  13. New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Jouet, M.; Kenwick, S. [Univ. of Cambridge (United Kingdom); Moncla, A. [Hopital d`Enfants de la Timone, Marseillas (United Kingdom)] [and others

    1995-06-01

    The neural cell-adhesion molecule L1 is involved in intercellular recognition and neuronal migration in the CNS. Recently, we have shown that mutations in the gene encoding L1 are responsible for three related disorders; X-linked hydrocephalus, MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome, and spastic paraplegia type I (SPG1). These three disorders represent a clinical spectrum that varies not only between families but sometimes also within families. To date, 14 independent L1 mutations have been reported and shown to be disease causing. Here we report nine novel L1 mutations in X-linked hydrocephalus and MASA-syndrome families, including the first examples of mutations affecting the fibronectin type III domains of the molecule. They are discussed in relation both to phenotypes and to the insights that they provide into L1 function. 39 refs., 5 figs., 3 tabs.

  14. Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome

    DEFF Research Database (Denmark)

    Hertz, Jens Michael; Juncker, I; Persson, U

    2001-01-01

    , three in-frame deletions, four nonsense mutations, and six splice site mutations. Twenty-two of the mutations have not previously been reported. Furthermore, we found one non-pathogenic amino acid substitution, one rare variant in a non-coding region, and one polymorphism with a heterozygosity of 28...... of type IV-collagen. We performed mutation analysis of the COL4A5 gene by PCR-SSCP analysis of each of the 51 exons with flanking intronic sequences in 81 patients suspected of X-linked Alport syndrome including 29 clear X-linked cases, 37 cases from families with a pedigree compatible with X...

  15. Cardiovascular metabolic syndrome: mediators involved in the pathophysiology from obesity to coronary heart disease.

    Science.gov (United States)

    Roos, Cornelis J; Quax, Paul H A; Jukema, J Wouter

    2012-02-01

    Patients with obesity and diabetes mellitus are at increased risk for cardiovascular events and have a higher cardiovascular morbidity and mortality. This worse prognosis is partly explained by the late recognition of coronary heart disease in these patients, due to the absence of symptoms. Early identification of coronary heart disease is vital, to initiate preventive medical therapy and improve prognosis. At present, with the use of cardiovascular risk models, the identification of coronary heart disease in these patients remains inadequate. To this end, biomarkers should improve the early identification of patients at increased cardiovascular risk. The first part of this review describes the pathophysiologic pathway from obesity to coronary heart disease. The second part evaluates several mediators from this pathophysiologic pathway for their applicability as biomarkers for the identification of coronary heart disease.

  16. Atrial and Ventricular Electrocardiographic Dromotropic Disturbances in Down Syndrome Patients with Structurally Normal Heart: A Cross-Sectional Study

    Directory of Open Access Journals (Sweden)

    Yazdan Ghandi

    2018-03-01

    Full Text Available Background: We designed a cross-sectional study to determine electrocardiographic disorders in Down syndrome patients with congenitally normal hearts in a bid to predict fatal cardiac arrhythmia in the future. Materials and Methods: We investigated 60 children with DS without congenital abnormal hearts. Sixty healthy juveniles were also included in the study as a control group. Physical examination, electrocardiography, and echocardiography were performed in all subjects. Corrected QT interval (QTc was measured according to Bazett’s formula. Results: Patients with DS consisted of 32 males (53.33%, and 28 females (46.66%, aged 6–13 (9.21 ± 6.24 years old. Healthy subjects comprised 31 males (51.66%, and 29 females (48.33% with a mean age of 9.15 ± 5.01. The two groups were significantly different in terms of heart rate (P=0.006, maximum P-wave duration (P=0.001, and P-wave dispersion (PWd, P=0.0001. There was no statistically significant difference regarding minimum P-wave duration (P=0.176. The patients with DS had a greater maximum QTc interval, QT dispersion, and corrected QT interval dispersion (QTc-d than the healthy control subjects (P=0.001. However, there was no difference in maximum QT interval and minimum QTc interval between the two groups (P=0.67 and P=0.553, respectively. A positive correlation was found between age, heart rate, and all electrocardiographic variables. Conclusion: All DS patients, even in the absence of concomitant congenital heart disease should be followed up carefully by electrocardiography, looking for increased PWd and QTc-d to detect predisposed cases to arrhythmia.

  17. Docosahexaenoic acid levels in blood and metabolic syndrome in obese children: is there a link?

    OpenAIRE

    Lassandro, C.; Banderali, G.; Radaelli, G.; Borghi, E.; Moretti, F.; Verduci, E.

    2015-01-01

    Prevalence of metabolic syndrome is increasing in the pediatric population. Considering the different existing criteria to define metabolic syndrome, the use of the International Diabetes Federation (IDF) criteria has been suggested in children. Docosahexaenoic acid (DHA) has been associated with beneficial effects on health. The evidence about the relationship of DHA status in blood and components of the metabolic syndrome is unclear. This review discusses the possible association between DH...

  18. Neurodevelopmental Outcome in Children after Fetal Cardiac Intervention for Aortic Stenosis with Evolving Hypoplastic Left Heart Syndrome.

    Science.gov (United States)

    Laraja, Kristin; Sadhwani, Anjali; Tworetzky, Wayne; Marshall, Audrey C; Gauvreau, Kimberlee; Freud, Lindsay; Hass, Cara; Dunbar-Masterson, Carolyn; Ware, Janice; Lafranchi, Terra; Wilkins-Haug, Louise; Newburger, Jane W

    2017-05-01

    To characterize neurodevelopmental outcomes after fetal aortic valvuloplasty for evolving hypoplastic left heart syndrome and determine the risk factors for adverse neurodevelopment. Questionnaires were mailed to families of children who underwent fetal aortic valvuloplasty from 2000 to 2012, and medical records were reviewed retrospectively. The primary outcome was the General Adaptive Composite score of the Adaptive Behavior Assessment System Questionnaire-Second Edition. Other questionnaires included the Behavior Assessment System for Children, Behavior Rating Inventory of Executive Function, Ages and Stages, and Pediatric Quality of Life Inventory. Among 69 eligible subjects, 52 (75%) completed questionnaires at median age of 5.5 (range 1.3-12) years; 30 (58%) had biventricular status circulation. The General Adaptive Composite mean score (92 ± 17) was lower than population norms (P neurodevelopmental questionnaires (Behavior Assessment System for Children, Behavior Rating Inventory of Executive Function, Ages and Stages, Pediatric Quality of Life Inventory), most subscale scores for patients with biventricular and single ventricular status were similar. Children who underwent fetal aortic valvuloplasty have neurodevelopmental delay, similar to patients with hypoplastic left heart syndrome without fetal intervention. Achievement of biventricular circulation was not associated with better outcomes. We infer that innate patient factors and morbidity during infancy have the greatest effect on neurodevelopmental outcomes. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. Parenting a child at home with hypoplastic left heart syndrome: experiences of commitment, of stress, and of love.

    Science.gov (United States)

    Cantwell-Bartl, Annie M; Tibballs, James

    2017-09-01

    To evaluate the experiences of parenting a child with hypoplastic left heart syndrome after the child has been discharged home from hospital. A study of the parents' experiences using face-to-face interviews and psychometric measures with parents whose child had survived stage surgery. Parents were interviewed within the home environment or within the hospital if that was their choice. A total of 29 parents (16 mothers and 13 fathers) of surviving children. Intervention A semi-structured face-to-face interview plus psychometric tests (parent demographics, Maslach Burnout Inventory, Impact on Family Scale, and the Psychological Check List - Civilian). Measurements and main results The parents' experience in supporting a child with hypoplastic left heart syndrome is one of stress, of commitment, and of love. Although parents experienced joy in their child, they were also subjected to anxiety with four parents test positive to post-traumatic stress disorder and hypervigilance while monitoring their child's condition. Parents lived with many difficulties, and demands.

  20. Activation and Inhibition of Sodium-Hydrogen Exchanger Is a Mechanism That Links the Pathophysiology and Treatment of Diabetes Mellitus With That of Heart Failure.

    Science.gov (United States)

    Packer, Milton

    2017-10-17

    The mechanisms underlying the progression of diabetes mellitus and heart failure are closely intertwined, such that worsening of one condition is frequently accompanied by worsening of the other; the degree of clinical acceleration is marked when the 2 coexist. Activation of the sodium-hydrogen exchanger in the heart and vasculature (NHE1 isoform) and the kidneys (NHE3 isoform) may serve as a common mechanism that links both disorders and may underlie their interplay. Insulin insensitivity and adipokine abnormalities (the hallmarks of type 2 diabetes mellitus) are characteristic features of heart failure; conversely, neurohormonal systems activated in heart failure (norepinephrine, angiotensin II, aldosterone, and neprilysin) impair insulin sensitivity and contribute to microvascular disease in diabetes mellitus. Each of these neurohormonal derangements may act through increased activity of both NHE1 and NHE3. Drugs used to treat diabetes mellitus may favorably affect the pathophysiological mechanisms of heart failure by inhibiting either or both NHE isoforms, and drugs used to treat heart failure may have beneficial effects on glucose tolerance and the complications of diabetes mellitus by interfering with the actions of NHE1 and NHE3. The efficacy of NHE inhibitors on the risk of cardiovascular events may be enhanced when heart failure and glucose intolerance coexist and may be attenuated when drugs with NHE inhibitory actions are given concomitantly. Therefore, the sodium-hydrogen exchanger may play a central role in the interplay of diabetes mellitus and heart failure, contribute to the physiological and clinical progression of both diseases, and explain certain drug-drug and drug-disease interactions that have been reported in large-scale randomized clinical trials. © 2017 American Heart Association, Inc.

  1. Lack of association of apolipoprotein E (Apo E) polymorphism with the prevalence of metabolic syndrome: the National Heart, Lung and Blood Institute Family Heart Study.

    Science.gov (United States)

    Lai, Lana Y H; Petrone, Andrew B; Pankow, James S; Arnett, Donna K; North, Kari E; Ellison, R Curtis; Hunt, Steven C; Rosenzweig, James L; Djoussé, Luc

    2015-09-01

    Metabolic syndrome (MetS), characterized by abdominal obesity, atherogenic dyslipidaemia, elevated blood pressure and insulin resistance, is a major public health concern in the United States. The effects of apolipoprotein E (Apo E) polymorphism on MetS are not well established. We conducted a cross-sectional study consisting of 1551 participants from the National Heart, Lung and Blood Institute Family Heart Study to assess the relation of Apo E polymorphism with the prevalence of MetS. MetS was defined according to the American Heart Association-National Heart, Lung and Blood Institute-International Diabetes Federation-World Health Organization harmonized criteria. We used generalized estimating equations to estimate adjusted odds ratios (ORs) for prevalent MetS and the Bonferroni correction to account for multiple testing in the secondary analysis. Our study population had a mean age (standard deviation) of 56.5 (11.0) years, and 49.7% had MetS. There was no association between the Apo E genotypes and the MetS. The multivariable adjusted ORs (95% confidence interval) were 1.00 (reference), 1.26 (0.31-5.21), 0.89 (0.62-1.29), 1.13 (0.61-2.10), 1.13 (0.88-1.47) and 1.87 (0.91-3.85) for the Ɛ3/Ɛ3, Ɛ2/Ɛ2, Ɛ2/Ɛ3, Ɛ2/Ɛ4, Ɛ3/Ɛ4 and Ɛ4/Ɛ4 genotypes, respectively. In a secondary analysis, Ɛ2/Ɛ3 genotype was associated with 41% lower prevalence odds of low high-density lipoprotein [multivariable adjusted ORs (95% confidence interval) = 0.59 (0.36-0.95)] compared with Ɛ3/Ɛ3 genotype. Our findings do not support an association between Apo E polymorphism and MetS in a multicentre population-based study of predominantly White US men and women. Copyright © 2015 John Wiley & Sons, Ltd.

  2. Aortic valve-sparing operation after correction of heart displacement due to pectus excavatum using Nuss procedure in a Marfan syndrome patient.

    Science.gov (United States)

    Fukunaga, Naoto; Yuzaki, Mitsuru; Hamakawa, Hiroshi; Nasu, Michihiro; Takahashi, Yutaka; Okada, Yukikatsu

    2012-01-01

    Cardiovascular surgery in the setting of chest wall deformities is a clinical challenge. Pectus excavatum, for example, can cause heart displacement to the left thoracic cavity, following the poor operative field. This report highlights a case in which a successful aortic valve-sparing operation via conventional median sternotomy after correction of the heart displacement due to pectus excavatum using Nuss procedure in Marfan syndrome. This technique can be one surgical option in Marfan syndrome patients with pectus excavatum and thoracic aortic aneurysm under close follow up.

  3. Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers-Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised.

    Science.gov (United States)

    Sinibaldi, Lorenzo; Ursini, Gianluca; Castori, Marco

    2015-03-01

    Psychological distress is a known feature of generalized joint hypermobility (gJHM), as well as of its most common syndromic presentation, namely Ehlers-Danlos syndrome, hypermobility type (a.k.a. joint hypermobility syndrome - JHS/EDS-HT), and significantly contributes to the quality of life of affected individuals. Most published articles dealt with the link between gJHM (or JHS/EDS-HT) and anxiety-related conditions, and a novel generation of studies is emerging aimed at investigating the psychopathologic background of such an association. In this paper, literature review was carried out with a semi-systematic approach spanning the entire spectrum of psychopathological findings in gJHM and JHS/EDS-HT. Interestingly, in addition to the confirmation of a tight link between anxiety and gJHM, preliminary connections with depression, attention deficit (and hyperactivity) disorder, autism spectrum disorders, and obsessive-compulsive personality disorder were also found. Few papers investigated the relationship with schizophrenia with contrasting results. The mind-body connections hypothesized on the basis of available data were discussed with focus on somatotype, presumed psychopathology, and involvement of the extracellular matrix in the central nervous system. The hypothesis of positive Beighton score and alteration of interoceptive/proprioceptive/body awareness as possible endophenotypes in families with symptomatic gJHM or JHS/EDS-HT is also suggested. Concluding remarks addressed the implications of the psychopathological features of gJHM and JHS/EDS-HT in clinical practice. © 2015 Wiley Periodicals, Inc.

  4. [Neurological syndromes linked with the intake of plants and fungi containing a toxic component (I). Neurotoxic syndromes caused by the ingestion of plants, seeds and fruits].

    Science.gov (United States)

    Carod-Artal, F J

    A wide range of plants, seeds and fruits used for nutritional and medicinal purposes can give rise to neurotoxic symptoms. We review the neurological pathology associated with the acute or chronic consumption of plants, seeds and fruits in human beings and in animals. Of the plants that can trigger acute neurotoxic syndromes in humans, some of the most notable include Mandragora officinalis, Datura stramonium, Conium maculatum (hemlock), Coriaria myrtifolia (redoul), Ricinus communis, Gloriosa superba, Catharanthus roseus, Karwinskia humboldtiana and Podophyllum pelatum. We also survey different neurological syndromes linked with the ingestion of vegetable foodstuffs that are rich in cyanogenic glycosides, Jamaican vomiting sickness caused by Blighia sapida, Parkinson dementia ALS of Guam island and exposition to Cycas circinalis, Guadeloupean parkinsonism and exposition to Annonaceae, konzo caused by ingestion of wild manioc and neurolathyrism from ingestion of Lathyrus sativus, the last two being models of motor neurone disease. Locoism is a chronic disease that develops in livestock feeding on plants belonging to Astragalus and Oxytropis sp., Sida carpinifolia and Ipomea carnea, which are rich in swainsonine, a toxin that inhibits the enzyme alpha mannosidase and induces a cerebellar syndrome. The ingestion of neurotoxic seeds, fruits and plants included in the diet and acute poisoning by certain plants can give rise to different neurological syndromes, some of which are irreversible.

  5. Frequency of Cardiorenal Syndrome Type-I in Hospitalized Children with Acute Heart Failure in a Tertiary-Care Hospital

    International Nuclear Information System (INIS)

    Zaidi, M.; Rahman, A. J.; Haque, A.; Sadqani, S.; Maheshwari, P. K.

    2014-01-01

    Objective: To determine the frequency of cardiorenal syndrome in hospitalized children with acute heart failure. Study Design: Descriptive study. Place and Duration of Study: Paediatric Intensive Care Unit, The Aga Khan University Hospital, Karachi, from December 2010 to December 2011. Methodology: Sixty eight (68) children with acute heart failure fulfilling the selection criteria were evaluated for worsening of renal function (WRF). Serum creatinine was done at baseline and repeated at 72 hours to see the worsening of renal function. Estimated serum creatinine clearance was calculated by Schwartz formula. Results: Mean age of patients was 43.6 +- 55.2 months. There were 43 (63%) males, 70% were under 57 months of age. Mean weight on admission was 14.7 +- 19.13 kg and mean height was 83 cm (+- 31.08 SD). Mean serum creatinine on admission was 0.77 mg/dl (+- 1.18 SD). Worsening renal function was noted in 55 (81%) of children, out of those, majority 36 (70.5%) were under 5 years of age. Conclusion: Worsening renal function was found in 81% of children admitted with the diagnosis of acute heart failure. Majority (70.5%) were under 5 years of age indicating a closer observation of renal status in younger age group to reduce, morbidity and mortality. (author)

  6. Relationship between heart rate recovery and inflammatory markers in patients with polycystic ovary syndrome: a cross-sectional study

    Directory of Open Access Journals (Sweden)

    Giallauria Francesco

    2009-02-01

    Full Text Available Abstract Background Polycystic ovary syndrome (PCOS is an endocrine disease closely related to several risk factors for cardiovascular disease. An abnormal heart rate recovery (HRR, an easily-obtained measure derived from exercise stress test and closely related to an increased risk for cardiovascular mortality, has been recently described in PCOS women. A subclinical increase of the inflammation markers has been also observed in the PCOS. This study was designed to study the relationships between HRR and inflammatory markers in PCOS women. Methods Two-hundred forty-three young PCOS patients without known risk factors for cardiovascular risk were enrolled. All patients underwent hormonal and metabolic profile, white blood cells (WBCs count and C-reactive protein (CRP. HRR was calculated as the difference between heart rate at peak exercise and heart rate at first minute of the cool-down period. Abnormal HRR was defined as ≤18 beats/min for standard exercise testing. Results Eighty-nine out of 243 patients presented abnormal HRR. Serum CRP (1.8 ± 0.7 vs. 1.1 ± 0.4 mg/dl, p 9 cells/l, p versus normal HRR. HRR was significantly associated with both CRP (r = -0.33, p p Conclusion Abnormal HRR and inflammatory markers are closely associated in PCOS women acting probably in concert to increase the cardiovascular risk profile of these patients.

  7. Relationship between heart rate recovery and inflammatory markers in patients with polycystic ovary syndrome: a cross-sectional study.

    Science.gov (United States)

    Giallauria, Francesco; Orio, Francesco; Lombardi, Gaetano; Colao, Annamaria; Vigorito, Carlo; Tafuri, Maria Giovanna; Palomba, Stefano

    2009-02-02

    Polycystic ovary syndrome (PCOS) is an endocrine disease closely related to several risk factors for cardiovascular disease. An abnormal heart rate recovery (HRR), an easily-obtained measure derived from exercise stress test and closely related to an increased risk for cardiovascular mortality, has been recently described in PCOS women. A subclinical increase of the inflammation markers has been also observed in the PCOS. This study was designed to study the relationships between HRR and inflammatory markers in PCOS women. Two-hundred forty-three young PCOS patients without known risk factors for cardiovascular risk were enrolled. All patients underwent hormonal and metabolic profile, white blood cells (WBCs) count and C-reactive protein (CRP). HRR was calculated as the difference between heart rate at peak exercise and heart rate at first minute of the cool-down period. Abnormal HRR was defined as PCOS patients with abnormal versus normal HRR. HRR was significantly associated with both CRP (r = -0.33, p PCOS women acting probably in concert to increase the cardiovascular risk profile of these patients.

  8. [Improvement of biventricular heart failure in a case of obstructive sleep apnea syndrome by nasal CPAP therapy].

    Science.gov (United States)

    Yamamoto, H; Akashiba, T; Minemura, H; Kurashina, K; Yoshizawa, T; Otsuka, K; Horie, T

    1993-08-01

    A 42-year-old male patient with obstructive sleep apnea syndrome (OSAS) suffering from biventricular heart failure is reported. He had been treated for OSAS with conventional therapy. However, he complained of severe dyspnea in association with extreme weight gain and general edema. Therefore, he was admitted to our department. He weighed 168 kg on admission, and marked edema was observed. Chest film revealed significant dilatation of the cardiac silhouette and pleural effusion. PaO2 was 37 mmHg and PaCO2 was 66 mmHg. Polysomnography showed an apnea index of 58.3 and severe oxygen desaturation during sleep. Right heart catheterization showed elevation of mean pulmonary artery pressure mPAP: 55 mmHg) and pulmonary capillary wedge pressure (Pcwp: 33 mmHg) suggesting biventricular heart failure. Digitalization and diuretic therapy were immediately initiated. In addition, nasal CPAP was applied to this patient during sleep, and sleep apnea and oxygen desaturation were almost completely reversed. Significant diuresis was observed, and blood gas data and sleep disturbance were improved. Fifty-nine days after admission, his weight had decreased to 96 kg, and mPAP and Pcwp decreased to 32 and 23 mmHg, respectively. This case demonstrates that nasal CPA is an effective tool for the treatment severe OSAS patients.

  9. Epidemiology, pathophysiology, and in-hospital management of pulmonary edema: data from the Romanian Acute Heart Failure Syndromes registry.

    Science.gov (United States)

    Chioncel, Ovidiu; Ambrosy, Andrew P; Bubenek, Serban; Filipescu, Daniela; Vinereanu, Dragos; Petris, Antoniu; Christodorescu, Ruxandra; Macarie, Cezar; Gheorghiade, Mihai; Collins, Sean P

    2016-02-01

    The objective of this study was to evaluate the clinical presentation, inpatient management, and in-hospital outcome of patients hospitalized for acute heart failure syndromes (AHFS) and classified as pulmonary edema (PE). The Romanian Acute Heart Failure Syndromes (RO-AHFS) study was a prospective, national, multicenter registry of all consecutive patients admitted with AHFS over a 12-month period. Patients were classified at initial presentation by clinician-investigators into the following clinical profiles: acute decompensated HF, cardiogenic shock, PE, right HF, or hypertensive HF. RO-AHFS enrolled 3224 patients and 28.7% (n = 924) were classified as PE. PE patients were more likely to present with pulmonary congestion, tachypnea, tachycardia, and elevated systolic blood pressure and less likely to have peripheral congestion and body weight increases. Mechanical ventilation was required in 8.8% of PE patients. PE patients received higher doses (i.e. 101.4 ± 27.1 mg) of IV furosemide for a shorter duration (i.e. 69.3 ± 22.3 hours). Vasodilators were given to 73.6% of PE patients. In-hospital all-cause mortality (ACM) in PE patients was 7.4%, and 57% of deaths occurred on day one. Increasing age, concurrent acute coronary syndromes, life-threatening ventricular arrhythmias, elevated BUN, left bundle branch block, inotrope therapy, and requirement for invasive mechanical ventilation were independent risk factors for ACM. In this national registry, the PE profile was found to be a high-acuity clinical presentation with distinctive treatment patterns and a poor short-term prognosis. Advances in the management of PE may necessitate both the development of novel targeted therapies as well as systems-based strategies to identify high-risk patients early in their course.

  10. KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation

    NARCIS (Netherlands)

    M.M. Alves (Maria); G.M. Burzynski (Grzegorz); J.-M. Delalande (Jean-Marie); J. Osinga (Jan); A. van der Goot (Annemieke); A.M. Dolga (Amalia); E. de Graaff (Esther); A.S. Brooks (Alice); M. Metzger (Marco); U.L.M. Eisel (Ulrich); I.T. Shepherd (Iain); B.J. Eggen (Bart); R.M.W. Hofstra (Robert)

    2010-01-01

    textabstractGoldberg-Shprintzen syndrome (GOSHS) is a rare clinical disorder characterized by central and enteric nervous system defects. This syndrome is caused by inactivating mutations in the Kinesin Binding Protein (KBP) gene, which encodes a protein of which the precise function is largely

  11. KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation

    NARCIS (Netherlands)

    Alves, Maria M.; Burzynski, Grzegorz; Delalande, Jean-Marie; Osinga, Jan; van der Goot, Annemieke; Dolga, Amalia; de Graaff, Esther; Brooks, Alice S.; Metzger, Marco; Eisel, Ulrich L.M.; Shepherd, Iain; Eggen, Bart J.L.; Hofstra, Robert M.W.

    2010-01-01

    Goldberg-Shprintzen syndrome (GOSHS) is a rare clinical disorder characterized by central and enteric nervous system defects. This syndrome is caused by inactivating mutations in the Kinesin Binding Protein (KBP) gene, which encodes a protein of which the precise function is largely unclear. We show

  12. Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity

    DEFF Research Database (Denmark)

    Belling, Kirstine González-Izarzugaza; Russo, Francesco; Jensen, Anders Boeck

    2017-01-01

    Klinefelter syndrome (KS) (47,XXY) is the most common male sex chromosome aneuploidy. Diagnosis and clinical supervision remain a challenge due to varying phenotypic presentation and insufficient characterization of the syndrome. Here we combine health data-driven epidemiology and molecular level...

  13. Links between Sleep and Daytime Behaviour Problems in Children with Down Syndrome

    Science.gov (United States)

    Esbensen, A. J.; Hoffman, E. K.; Beebe, D. W.; Byars, K. C.; Epstein, J.

    2018-01-01

    Background: In the general population, sleep problems have an impact on daytime performance. Despite sleep problems being common among children with Down syndrome, the impact of sleep problems on daytime behaviours in school-age children with Down syndrome is an understudied topic. Our study examined the relationship between parent-reported and…

  14. Docosahexaenoic Acid Levels in Blood and Metabolic Syndrome in Obese Children: Is There a Link?

    Science.gov (United States)

    Lassandro, Carlotta; Banderali, Giuseppe; Radaelli, Giovanni; Borghi, Elisa; Moretti, Francesca; Verduci, Elvira

    2015-08-21

    Prevalence of metabolic syndrome is increasing in the pediatric population. Considering the different existing criteria to define metabolic syndrome, the use of the International Diabetes Federation (IDF) criteria has been suggested in children. Docosahexaenoic acid (DHA) has been associated with beneficial effects on health. The evidence about the relationship of DHA status in blood and components of the metabolic syndrome is unclear. This review discusses the possible association between DHA content in plasma and erythrocytes and components of the metabolic syndrome included in the IDF criteria (obesity, alteration of glucose metabolism, blood lipid profile, and blood pressure) and non-alcoholic fatty liver disease in obese children. The current evidence is inconsistent and no definitive conclusion can be drawn in the pediatric population. Well-designed longitudinal and powered trials need to clarify the possible association between blood DHA status and metabolic syndrome.

  15. Docosahexaenoic Acid Levels in Blood and Metabolic Syndrome in Obese Children: Is There a Link?

    Directory of Open Access Journals (Sweden)

    Carlotta Lassandro

    2015-08-01

    Full Text Available Prevalence of metabolic syndrome is increasing in the pediatric population. Considering the different existing criteria to define metabolic syndrome, the use of the International Diabetes Federation (IDF criteria has been suggested in children. Docosahexaenoic acid (DHA has been associated with beneficial effects on health. The evidence about the relationship of DHA status in blood and components of the metabolic syndrome is unclear. This review discusses the possible association between DHA content in plasma and erythrocytes and components of the metabolic syndrome included in the IDF criteria (obesity, alteration of glucose metabolism, blood lipid profile, and blood pressure and non-alcoholic fatty liver disease in obese children. The current evidence is inconsistent and no definitive conclusion can be drawn in the pediatric population. Well-designed longitudinal and powered trials need to clarify the possible association between blood DHA status and metabolic syndrome.

  16. Diagnostic Accuracy of Chinese Medicine Diagnosis Scale of Phlegm and Blood Stasis Syndrome in Coronary Heart Disease: A Study Protocol.

    Science.gov (United States)

    Liu, Xiao-Qi; Peng, Dan-Hong; Wang, Yan-Ping; Xie, Rong; Chen, Xin-Lin; Yu, Chun-Quan; Li, Xian-Tao

    2018-05-03

    Phlegm and blood stasis syndrome (PBSS) is one of the main syndromes in coronary heart disease (CHD). Syndromes of Chinese medicine (CM) are lack of quantitative and easyimplementation diagnosis standards. To quantify and standardize the diagnosis of PBSS, scales are usually applied. To evaluate the diagnostic accuracy of CM diagnosis scale of PBSS in CHD. Six hundred patients with stable angina pectoris of CHD, 300 in case group and 300 in control group, will be recruited from 5 hospitals across China. Diagnosis from 2 experts will be considered as the "gold standard". The study design consists of 2 phases: pilot test is used to evaluate the reliability and validity, and diagnostic test is used to assess the diagnostic accuracy of the scale, including sensitivity, specififi city, likelihood ratio and area under the receiver operator characteristic (ROC) curve. This study will evaluate the diagnostic accuracy of CM diagnosis scale of PBSS in CHD. The consensus of 2 experts may not be ideal as a "gold standard", and itself still requires further study. (No. ChiCTR-OOC-15006599).

  17. Anesthetic Considerations for an Adult Patient with Freeman-Sheldon Syndrome Undergoing Open Heart Surgery

    Directory of Open Access Journals (Sweden)

    S. Viehmeyer

    2018-01-01

    Full Text Available Freeman-Sheldon syndrome (FSS or “whistling face” syndrome is a rare congenital disorder complicated by characteristic facial deformities and muscular contractures. We report on a 64-year-old male patient presenting for surgical replacement of his aortic valve and review the available literature on anesthetic considerations and perioperative management principles. FSS frequently poses a significant challenge to airway management and gaining vascular access. Moreover, these patients are reportedly at risk for developing malignant hyperthermia (MH or neuroleptic malignant syndrome.

  18. The Management of Heart Failure in Kidney and Urinary Tract Syndromes

    Directory of Open Access Journals (Sweden)

    Yuri Lopatin

    2017-01-01

    Full Text Available Kidney dysfunction and other related abnormalities are extremely common in all HF syndromes, both because of the similarity of risk factors and the similarity of demography of the two types of patients but also because of the common renal effects of agents used for the treatment of HF. Important renal syndromes for the HF patient include including chronic kidney disease, acute kidney injury, cardio-renal syndrome, and prostatic obstruction. In HF (all types including HFrEF, HFmrEF and especially HFpEF chronic kidney disease (CKD frequently co-exists and almost as frequently complicates the HF management. The two groups of syndromes share many risk factors (diabetes, hypertension, hyperlipidaemia and often interact to worsen the prognosis of each other in a way that makes the patient with combined HF and renal disease at extremely high risk. This article reviews this common co-morbidity and how to manage it.

  19. Heart Failure in the Elderly

    NARCIS (Netherlands)

    B. Cost (Bernard)

    2000-01-01

    textabstractHeart failure is a clinical syndrome with various causes for which no universally accepted definition exists. Packer's definition of heart failure "representing a complex clinical syndrome characterised by abnonnalities of left ventricular function and neurohumoral regulation. which are

  20. Links of gut microbiota composition with alcohol dependence syndrome and alcoholic liver disease.

    Science.gov (United States)

    Dubinkina, Veronika B; Tyakht, Alexander V; Odintsova, Vera Y; Yarygin, Konstantin S; Kovarsky, Boris A; Pavlenko, Alexander V; Ischenko, Dmitry S; Popenko, Anna S; Alexeev, Dmitry G; Taraskina, Anastasiya Y; Nasyrova, Regina F; Krupitsky, Evgeny M; Shalikiani, Nino V; Bakulin, Igor G; Shcherbakov, Petr L; Skorodumova, Lyubov O; Larin, Andrei K; Kostryukova, Elena S; Abdulkhakov, Rustam A; Abdulkhakov, Sayar R; Malanin, Sergey Y; Ismagilova, Ruzilya K; Grigoryeva, Tatiana V; Ilina, Elena N; Govorun, Vadim M

    2017-10-17

    Alcohol abuse has deleterious effects on human health by disrupting the functions of many organs and systems. Gut microbiota has been implicated in the pathogenesis of alcohol-related liver diseases, with its composition manifesting expressed dysbiosis in patients suffering from alcoholic dependence. Due to its inherent plasticity, gut microbiota is an important target for prevention and treatment of these diseases. Identification of the impact of alcohol abuse with associated psychiatric symptoms on the gut community structure is confounded by the liver dysfunction. In order to differentiate the effects of these two factors, we conducted a comparative "shotgun" metagenomic survey of 99 patients with the alcohol dependence syndrome represented by two cohorts-with and without liver cirrhosis. The taxonomic and functional composition of the gut microbiota was subjected to a multifactor analysis including comparison with the external control group. Alcoholic dependence and liver cirrhosis were associated with profound shifts in gut community structures and metabolic potential across the patients. The specific effects on species-level community composition were remarkably different between cohorts with and without liver cirrhosis. In both cases, the commensal microbiota was found to be depleted. Alcoholic dependence was inversely associated with the levels of butyrate-producing species from the Clostridiales order, while the cirrhosis-with multiple members of the Bacteroidales order. The opportunist pathogens linked to alcoholic dependence included pro-inflammatory Enterobacteriaceae, while the hallmarks of cirrhosis included an increase of oral microbes in the gut and more frequent occurrence of abnormal community structures. Interestingly, each of the two factors was associated with the expressed enrichment in many Bifidobacterium and Lactobacillus-but the exact set of the species was different between alcoholic dependence and liver cirrhosis. At the level of

  1. Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.

    Science.gov (United States)

    Xue, Yuan; Schoser, Benedikt; Rao, Aliz R; Quadrelli, Roberto; Vaglio, Alicia; Rupp, Verena; Beichler, Christine; Nelson, Stanley F; Schapacher-Tilp, Gudrun; Windpassinger, Christian; Wilcox, William R

    2016-04-01

    Previously, we reported a rare X-linked disorder, Uruguay syndrome in a single family. The main features are pugilistic facies, skeletal deformities, and muscular hypertrophy despite a lack of exercise and cardiac ventricular hypertrophy leading to premature death. An ≈19 Mb critical region on X chromosome was identified through identity-by-descent analysis of 3 affected males. Exome sequencing was conducted on one affected male to identify the disease-causing gene and variant. A splice site variant (c.502-2A>G) in the FHL1 gene was highly suspicious among other candidate genes and variants. FHL1A is the predominant isoform of FHL1 in cardiac and skeletal muscle. Sequencing cDNA showed the splice site variant led to skipping of exons 6 of the FHL1A isoform, equivalent to the FHL1C isoform. Targeted analysis showed that this splice site variant cosegregated with disease in the family. Western blot and immunohistochemical analysis of muscle from the proband showed a significant decrease in protein expression of FHL1A. Real-time polymerase chain reaction analysis of different isoforms of FHL1 demonstrated that the FHL1C is markedly increased. Mutations in the FHL1 gene have been reported in disorders with skeletal and cardiac myopathy but none has the skeletal or facial phenotype seen in patients with Uruguay syndrome. Our data suggest that a novel FHL1 splice site variant results in the absence of FHL1A and the abundance of FHL1C, which may contribute to the complex and severe phenotype. Mutation screening of the FHL1 gene should be considered for patients with uncharacterized myopathies and cardiomyopathies. © 2016 American Heart Association, Inc.

  2. Xenopus: An Emerging Model for Studying Congenital Heart Disease

    Science.gov (United States)

    Kaltenbrun, Erin; Tandon, Panna; Amin, Nirav M.; Waldron, Lauren; Showell, Chris; Conlon, Frank L.

    2011-01-01

    Congenital heart defects affect nearly 1% of all newborns and are a significant cause of infant death. Clinical studies have identified a number of congenital heart syndromes associated with mutations in genes that are involved in the complex process of cardiogenesis. The African clawed frog, Xenopus, has been instrumental in studies of vertebrate heart development and provides a valuable tool to investigate the molecular mechanisms underlying human congenital heart diseases. In this review, we discuss the methodologies that make Xenopus an ideal model system to investigate heart development and disease. We also outline congenital heart conditions linked to cardiac genes that have been well-studied in Xenopus and describe some emerging technologies that will further aid in the study of these complex syndromes. PMID:21538812

  3. Coronary flow reserve as a link between diastolic and systolic function and exercise capacity in heart failure

    DEFF Research Database (Denmark)

    Snoer, Martin; Monk-Hansen, Tea; Olsen, Rasmus Huan

    2012-01-01

    AIMS: In heart failure, a reduced exercise capacity is the prevailing symptom and an important prognostic marker of future outcome. The purpose of the study was to assess the relation of coronary flow reserve (CFR) to diastolic and systolic function in heart failure and to determine which...

  4. Oral?facial?digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum

    OpenAIRE

    Bouman, Arjan; Alders, Mari?lle; Oostra, Roelof Jan; van Leeuwen, Elisabeth; Thuijs, Nikki; van der Kevie?Kersemaekers, Anne?Marie; van Maarle, Merel

    2017-01-01

    Oral?facial?digital syndrome type 1 (OFD1; OMIM# 311200) is an X?linked dominant ciliopathy caused by mutations in the OFD1 gene. This condition is characterized by facial anomalies and abnormalities of oral tissues, digits, brain, and kidneys. Almost all affected patients are female, as OFD1 is presumed to be lethal in males, mostly in the first or second trimester of pregnancy. Live born males with OFD1 are a rare occurrence, with only five reported patients to date. In four patients the pr...

  5. Million Hearts 2022: Understanding the Links between Environmental Pollutant Exposure and Cardiovascular and Cerebrovascular Events - Justus-Warren Heart Disease and Stroke Prevention Task Force

    Science.gov (United States)

    The webinar was requested by the Justus-Warren Heart Disease and Stroke Prevention Task Force. From their website, “The task force was established in 1995 in North Carolina to provide statewide leadership for the prevention and management of cardiovascular disease. Meetings are...

  6. Improvement of the Dynamic Responses of Heart Rate Variability Patterns after Needle and Laser Acupuncture Treatment in Patients with Burnout Syndrome: A Transcontinental Comparative Study

    Directory of Open Access Journals (Sweden)

    Gerhard Litscher

    2013-01-01

    Full Text Available We investigated manual needle and laser needle acupuncture as a complementary therapy for patients with burnout syndrome. Twenty patients with a mean age ± SD of 38.7 ± 8.4 years were assigned to two groups, each consisting of ten patients. One group was treated with manual needle acupuncture and the other with laser needle acupuncture. Heart rate, heart rate variability (HRV, and a new score called dynamic acupuncture treatment score (DATS served as evaluation parameters. The study documented significant effects on heart rate after needle acupuncture treatment and significant effects on HRV caused by both needle and laser needle acupuncture. Based on new neurovegetative acupuncture treatment evaluation scores, it can be stated that both noninvasive laser needle acupuncture and manual needle acupuncture have the potential to be a powerful approach for evidence-based complementary treatment of patients with burnout syndrome. Further transcontinental studies to verify or refute the preliminary findings are in progress.

  7. Pheochromocytoma presenting as an acute coronary syndrome complicated by acute heart failure: The challenge of a great mimic.

    Science.gov (United States)

    Sanna, Giuseppe Damiano; Talanas, Giuseppe; Fiore, Giuseppina; Canu, Antonella; Terrosu, Pierfranco

    2016-10-01

    Pheochromocytoma is a rare neuroendocrine tumor with a highly variable clinical presentation. The serious and potentially lethal cardiovascular complications of these tumors are related to the effects of secreted catecholamines. We describe a case of a 50-year-old woman urgently admitted to our hospital because of symptoms and clinical and instrumental findings consistent with an acute coronary syndrome complicated by acute heart failure. Urgent coronary angiography showed normal coronary arteries. During her hospital stay, the recurrence of episodes characterized by a sudden increase in blood pressure, cold sweating, and nausea allowed us to hypothesize a pheochromocytoma. The diagnosis was confirmed by elevated levels of urinary catecholamines and by the finding of a left adrenal mass on magnetic resonance imaging. The patient underwent left adrenalectomy. Therefore, the initial diagnosis was critically reappraised and reviewed as a cardiac manifestation of a pheochromocytoma during catecholaminergic crisis.

  8. Heart failure in patients with sick sinus syndrome treated with single lead atrial or dual-chamber pacing

    DEFF Research Database (Denmark)

    Riahi, Sam; Nielsen, Jens Cosedis; Hjortshøj, Søren

    2012-01-01

    AIMS: Previous studies indicate that ventricular pacing may precipitate heart failure (HF). We investigated occurrence of HF during long-term follow-up among patients with sick sinus syndrome (SSS) randomized to AAIR or DDDR pacing. Furthermore, we investigated effects of percentage of ventricular...... patients (17%) with the leads in a non-apical position, HR 0.67, CI 0.45-1.00, P = 0.05. After adjustments this difference was non-significant. The incidence of HF was not associated with %VP (P = 0.57).CONCLUSION: In patients with SSS, HF was not associated with pacing mode, %VP, or ventricular lead...... localization. This suggests that DDDR pacing is safe in patients with SSS without precipitating HF....

  9. Further confirmation of the MED13L haploinsufficiency syndrome

    NARCIS (Netherlands)

    van Haelst, M.M.; Monroe, G.R.; Duran, K.J.; van Binsbergen, E.; Breur, J.M.P.J.; Giltay, J.C.; van Haaften, G.W.

    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

  10. Congenital Heart Disease in Children with Down syndrome in Kermanshah, West of Iran during 2002 - 2016

    Directory of Open Access Journals (Sweden)

    Zahra Jalili

    2017-11-01

    Full Text Available Background Down syndrome is the most common chromosomal anomaly. Dysmorphic features can occur in several organs in this syndrome. Cardiac anomalies with a prevalence of 50% are the most common anomalies responsible for death during the first two years of life. We aimed to determine the prevalence of cardiac anomalies among Down syndrome patients admitted to two tertiary hospitals in Kermanshah, Iran from 2002 to 2016. Materials and Methods In this descriptive study, the medical records of all patients with Down syndrome admitted to two university hospitals namely Imam Ali and Imam Reza, Kermanshah city located in Western part of Iran in the study period were reviewed. All patients had received Echocardiography two-dimensional (2D. The required data including cardiac anomaly type, consanguinity of parents, maternal age, surgical interventions, and survival were collected into a checklist. Results:  During the study period, 166 patients with Down syndrome had received diagnostic and therapeutic services in the studied hospitals. There were 70 males (42.2% and 96 females (57.8%. Familial consanguinity was documented in 95 patients (57.2%. Mean ± standard deviation (SD maternal age at delivery was 26.33 (±4.7 years (range, 15 to 45 years. Of 166 studied patients, 123 (74.1% had cardiac anomaly. Ventricular septal defect (VSD was the most prevalent single defect seen in 32 (26% patients, followed by atrial septal defect (ASD detected in in 22 (17.8% patients. Seventy patients (42.1% required surgical interventions. A total of 74 patients experienced relative improvement of the symptoms. Also, seven patients (10.2% died including five females and two males. Conclusion: The frequency of cardiac anomalies in the studied population of Down syndrome patients was higher than former reported figures. The pattern of the anomalies is compatible with some former reports, but contradicts other reports.

  11. Relationship of renal insufficiency and clinical features or comorbidities with clinical outcome in patients hospitalised for acute heart failure syndromes.

    Science.gov (United States)

    Kajimoto, Katsuya; Sato, Naoki; Takano, Teruo

    2017-12-01

    Renal insufficiency is a well-known predictor of adverse events in patients with acute heart failure syndromes (AHFS). However, it remains unclear whether there are subgroups of AHFS patients in whom renal insufficiency is related to a higher risk of adverse events because of the heterogeneity of this patient population. Therefore, we investigated the relationship between renal insufficiency, clinical features or comorbidities, and the risk of adverse events in patients with AHFS. Of 4842 patients enrolled in the Acute Decompensated Heart Failure Syndromes (ATTEND) registry, 4628 patients (95.6%) were evaluated in the present study in order to assess the relationship of renal insufficiency and clinical features or comorbidities with all-cause mortality after admission. Renal insufficiency was defined as an estimated creatinine clearance of ⩽40 mL/min (calculated by the Cockcroft-Gault formula) at admission. The median follow-up period after admission was 524 (391-789) days. The all-cause mortality rate after admission was significantly higher in patients with renal insufficiency (36.7%) than in patients without renal insufficiency (14.4%). Stratified analysis was performed in order to explore the heterogeneity of the influence of renal insufficiency on all-cause mortality. This analysis revealed that an ischaemic aetiology and a history of diabetes, atrial fibrillation, serum sodium, and anaemia at admission had significant influences on the relationship between renal insufficiency and all-cause mortality. The present study demonstrated that the relationship between renal insufficiency and all-cause mortality of AHFS patients varies markedly with clinical features or comorbidities and the mode of presentation due to the heterogeneity of this patient population.

  12. Characteristics and in-hospital outcomes of patients with acute coronary syndromes and heart failure in the United Arab Emirates.

    Science.gov (United States)

    Shehab, Abdulla; Al-Dabbagh, Bayan; Almahmeed, Wael; Bustani, Nazar; Nagelkerke, Nicolaas; Yusufali, Afzal; Wassef, Adel; Ibrahim, Mohamed; Brek, Azan Bin

    2012-09-26

    Heart failure (HF) is a serious complication of acute coronary syndromes (ACS), and is associated with high in-hospital mortality and poor long-term survival. The aims of this study were to describe the clinical characteristics, management and in-hospital outcomes of coronary syndrome (ACS) patients with HF in the United Arab Emirates. The study was selected from the Gulf Registry of Acute Coronary Events (Gulf RACE), a prospective multi-national, multicenter registry of patients hospitalized with ACS in six Middle East countries. The present analysis was focused on participants admitted to various hospitals in the UAE with a diagnosis of ACS in 2007 and were analyzed in terms of HF (Killip class II/III and IV) on admission. Of 1691 patients (mean age: 52.6 ± 11.7 years; 210 Females, 1481 Males) with ACS, 356 (21%) had an admission diagnosis of HF (Killip class II/III and IV). HF patients were less frequently males (19.2% vs. 34.3%; P < 0.001). HF was more frequently associated with hypertension (64.3% vs. 43.9%; P < 0.001), hyperlipidemia (49.4% vs. 31.8%; P < 0.001) and diabetes mellitus (DM) (51.1% vs. 36.2%; P < 0.001). HF was significantly associated with in-hospital mortality (OR = 11.821; 95% CI: 5.385-25.948; P < 0.001). In multivariate logistic regression, age, hyperlipidemia, heart rate and DM were associated with higher in-hospital HF. HF is observed in about 1 in 5 patients with ACS in the UAE and is associated with a significant increase in in-hospital mortality and other adverse outcomes.

  13. The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females.

    Science.gov (United States)

    Bixler, D; Higgins, M; Hartsfield, J

    1984-07-01

    This report describes two families with the Nance-Horan syndrome, an X-linked trait featuring lenticular cataracts and anomalies of tooth shape and number. Previous reports have described blindness in affected males but posterior sutural cataracts with normal vision as the primary ocular expression in heterozygous females. In one of these two families, the affected female is not only blind in one eye but reportedly had supernumerary central incisors (mesiodens) removed. This constitutes the most severe ocular and dental expression of this gene in heterozygous females yet reported.

  14. Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability.

    Science.gov (United States)

    Houge, G; Rasmussen, I H; Hovland, R

    2012-01-01

    In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the post-synaptic density, and a role in RAS/MAPK-dependent signal transduction.

  15. Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability

    OpenAIRE

    Houge, G.; Rasmussen, I.H.; Hovland, R.

    2011-01-01

    In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the pos...

  16. Heart type fatty acid binding protein response and subsequent development of atherosclerosis in insulin resistant polycystic ovary syndrome patients.

    Science.gov (United States)

    Cakir, Evrim; Ozbek, Mustafa; Sahin, Mustafa; Cakal, Erman; Gungunes, Askin; Ginis, Zeynep; Demirci, Taner; Delibasi, Tuncay

    2012-12-18

    Women with polycystic ovary syndrome (PCOS) have higher risk for cardiovascular disease (CVD). Heart type fatty acid binding protein (HFABP) has been found to be predictive for myocardial ischemia.Wet ested whether HFABP is the predictor for CVD in PCOS patients, who have an increased risk of cardiovascular disease. This was a prospective, cross sectional controlled study conducted in a training and research hospital.The study population consisted of 46 reproductive-age PCOS women and 28 control subjects. We evaluated anthropometric and metabolic parameters, carotid intima media thickness and HFABP levels in both PCOS patients and control group. Mean fasting insulin, homeostasis model assessment insulin resistance index (HOMA-IR), triglyceride, total cholesterol, low density lipoprotein cholesterol, free testosterone, total testosterone, carotid intima media thickness (CIMT) levels were significantly higher in PCOS patients. Although HFABP levels were higher in PCOS patients, the difference did not reach statistically significant in early age groups. After adjustment for age and body mass index, HFABP level was positive correlated with hsCRP, free testosterone levels, CIMT and HOMA-IR. Heart type free fatty acid binding protein appeared to have an important role in metabolic response and subsequent development of atherosclerosis in insulin resistant, hyperandrogenemic PCOS patients.

  17. A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease

    Directory of Open Access Journals (Sweden)

    Anders G. Holst

    2009-01-01

    Full Text Available Brugada syndrome (BrS is a primary electrical heart disease, which can lead to sudden cardiac death. In older patients with BrS, the disease may coexist with ischaemic heart disease (IHD and recent studies support a synergistic proarrhythmic effect of the two disease entities. We report a case that illustrates this. The index patient was a middle-aged patient with BrS traits, IHD, and aborted sudden cardiac death. Mutation analysis discovered a novel mutation P468L in the NaV1.5 sodium channel. Surprisingly, voltage-clamp experiments on the wild-type and mutant NaV1.5 channels expressed in HEK cells revealed no functional effect of the mutation. In a patient like ours, the distinction between IHD and BrS as the cause of an aborted sudden cardiac death is hard to establish and mounting evidence shows that coexistence of the two may have a synergistic proarrhythmic effect.

  18. Heart type fatty acid binding protein response and subsequent development of atherosclerosis in insulin resistant polycystic ovary syndrome patients

    Directory of Open Access Journals (Sweden)

    Cakir Evrim

    2012-12-01

    Full Text Available Abstract Background Women with polycystic ovary syndrome (PCOS have higher risk for cardiovascular disease (CVD. Heart type fatty acid binding protein (HFABP has been found to be predictive for myocardial ischemia.Wet ested whether HFABP is the predictor for CVD in PCOS patients, who have an increased risk of cardiovascular disease. Methods This was a prospective, cross sectional controlled study conducted in a training and research hospital.The study population consisted of 46 reproductive-age PCOS women and 28 control subjects. We evaluated anthropometric and metabolic parameters, carotid intima media thickness and HFABP levels in both PCOS patients and control group. Results Mean fasting insulin, homeostasis model assessment insulin resistance index (HOMA-IR, triglyceride, total cholesterol, low density lipoprotein cholesterol, free testosterone, total testosterone, carotid intima media thickness (CIMT levels were significantly higher in PCOS patients. Although HFABP levels were higher in PCOS patients, the difference did not reach statistically significant in early age groups. After adjustment for age and body mass index, HFABP level was positive correlated with hsCRP, free testosterone levels, CIMT and HOMA-IR. Conclusions Heart type free fatty acid binding protein appeared to have an important role in metabolic response and subsequent development of atherosclerosis in insulin resistant, hyperandrogenemic PCOS patients.

  19. Cancer risks and immunohistochemical profiles linked to the Danish MLH1 Lynch syndrome founder mutation

    DEFF Research Database (Denmark)

    Therkildsen, Christina; Isinger-Ekstrand, Anna; Ladelund, Steen

    2012-01-01

    Founder mutations with a large impact in distinct populations have been described in Lynch syndrome. In Denmark, the MLH1 c.1667+2_1667_+8TAAATCAdelinsATTT mutation accounts for 25 % of the MLH1 mutant families. We used the national Danish hereditary nonpolyposis colorectal cancer register...... to estimate the cumulative lifetime risks for Lynch syndrome-associated cancer in 16 founder mutation families with comparison to 47 other MLH1 mutant families. The founder mutation conferred comparable risks for colorectal cancer (relative risks, RR, of 0.99 for males and 0.79 for females) and lower risks...... in 68 % with extensive inter-tumor variability despite the same underlying germline mutation. In conclusion, the Danish MLH1 founder mutation that accounts for a significant proportion of Lynch syndrome and is associated with a lower risk for extracolonic cancers....

  20. Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

    Science.gov (United States)

    Pehlivan, Davut; Karaca, Ender; Aydin, Hatip; Beck, Christine R; Gambin, Tomasz; Muzny, Donna M; Bilge Geckinli, B; Karaman, Ali; Jhangiani, Shalini N; Gibbs, Richard A; Lupski, James R

    2014-09-01

    Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics research. An efficient and cost-effective method, WES is now widely used as a diagnostic tool for identifying the molecular basis of genetic syndromes that are often challenging to diagnose. Here we report a patient with a clinical diagnosis of cerebro-facio-thoracic dysplasia (CFTD; MIM#213980) in whom we identified a homozygous splice-site mutation in the transmembrane and coiled-coil domains 1 (TMCO1) gene using WES. TMCO1 mutations cause craniofacial dysmorphism, skeletal anomalies characterized by multiple malformations of the vertebrae and ribs, and intellectual disability (MIM#614132). A retrospective review revealed that clinical manifestations of both syndromes are very similar and overlap remarkably. We propose that mutations of TMCO1 are not only responsible for craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome but also for CFTD.

  1. Links between sleep and daytime behaviour problems in children with Down syndrome.

    Science.gov (United States)

    Esbensen, A J; Hoffman, E K; Beebe, D W; Byars, K C; Epstein, J

    2018-02-01

    In the general population, sleep problems have an impact on daytime performance. Despite sleep problems being common among children with Down syndrome, the impact of sleep problems on daytime behaviours in school-age children with Down syndrome is an understudied topic. Our study examined the relationship between parent-reported and actigraphy-measured sleep duration and sleep quality with parent and teacher reports of daytime behaviour problems among school-age children with Down syndrome. Thirty school-age children with Down syndrome wore an actigraph watch for a week at home at night. Their parent completed ratings of the child's sleep during that same week. Their parent and teacher completed a battery of measures to assess daytime behaviour. Parent reports of restless sleep behaviours on the Children's Sleep Habits Questionnaire, but not actigraph-measured sleep efficiency, was predictive of parent and teacher behavioural concerns on the Nisonger Child Behaviour Rating Form and the Vanderbilt ADHD Rating Scales. Actigraph-measured sleep period and parent-reported sleep duration on the Children's Sleep Habits Questionnaire was predictive of daytime parent-reported inattention. Actigraph-measured sleep period was predictive of parent-reported hyperactivity/impulsivity. The study findings suggest that sleep problems have complex relationships to both parent-reported and teacher-reported daytime behaviour concerns in children with Down syndrome. These findings have implications for understanding the factors impacting behavioural concerns and their treatment in school-age children with Down syndrome. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  2. Broken Heart Syndrome – An intra operative complication

    African Journals Online (AJOL)

    Zara Wani

    2017-03-09

    Mar 9, 2017 ... diomyopathy, Stress Cardiomyopathy1 is an acute reversible left ventricular dysfunction in the absence ... acute coronary syndrome with charac- teristics features of typical chest pain, pulmonary edema, ... Beta-blockers5 and intensive care is the prime mode of treatment, which provides good recovery and ...

  3. Middle aortic syndrome as a cause of heart failure in children and its management.

    OpenAIRE

    Gupta, S; Goswami, B; Ghosh, D C; Sen Gupta, A N

    1981-01-01

    Two cases of middle aortic syndrome in children are described along with two other cases reported earlier. In childhood, this disease may present as incipient or overt cardiac failure. Surgical treatment should be undertaken based on an objective assessment of the severity of the stricture and after taking into account the future growth of the child.

  4. Mechanisms of angina pectoris in syndrome X assessed by myocardial perfusion dynamics and heart rate variability

    NARCIS (Netherlands)

    Meeder, JG; Blanksma, PK; Crijns, HJGM; Anthonio, RL; Pruim, J; Brouwer, J; DeJong, RM; VanderWall, EE; Vaalburg, W; Lie, KI

    1995-01-01

    The fundamental abnormality in syndrome X (angina pectoris, ischaemia-like stress ECG despite angiographically normal coronary arteries) might be patchily distributed increased tone in pre-arteriolar coronary vessels with compensatory release of adenosine. The aim of this study was to confirm this

  5. [Metformin and changes in blood pressure and heart rate in lean patients with polycystic ovary syndrome (PCOS)--preliminary study].

    Science.gov (United States)

    Tomczyk, Rita; Ociepka, Agnieszka; Kiałka, Marta; Milewicz, Tomasz; Migacz, Kamila; Kowalczuk, Aleksandra; Klocek, Marek

    2015-01-01

    The aim of our study was to assess the value of blood pressure and heart rate using the 24-hour blood pressure monitoring (ABPM) before and after treatment with metformin to patients with polycystic ovary syndrome (PCOS) and normal lean. 5 patients received metformin 1500 mg per day in three divided doses. ABPM was performed to each patient with PCOS twice: before and after 6 months of treatment with metformin. In patients with PCOS and normal lean after treatment with metformin we observed: statistically significant lower systolic blood pressure (120.2 ± 22.33 mmHg vs 113.22 ± 21.43 mm Hg, p = 0.0248); lower systolic blood pressure of daily measurements (127.1 ± 32.13 mmHg vs 116.1 ± 22.08 mmHg, p = 0.0062); reduction in average arterial pressure MAP in the measurement of the day (95.52 ± 22.76 mmHg vs 88.36 ± 16.41 mmHg, p = 0.048); oscillometric pressure reduction (96.27 ± 27.93 mmHg vs 87.82 ± 21.61, p = 0.0004 mmHg); oscillometric pressure reduction of daily measurements (102.1 ± 27.93 mmHg vs 91.85 ± 21.61 mmHg, p = 0.0032); oscillometric pressure reduction in the measure- ment of the night (88.81 ± 24.85 mmHg vs 82.22 ± 20.54 mmHg, p = 0.0089). In women after treatment with metformin has also been observed higher average heart rate (65.82 ± 13.48 / min vs. 70.71 ± 16.04 min; p PCOS and normal lean leads to lower blood pressure and increases the frequency of heart rate.

  6. Hypoplastic left heart syndrome and the nutmeg lung pattern in utero: a cause and effect relationship or prognostic indicator?

    Energy Technology Data Exchange (ETDEWEB)

    Saul, David; Johnson, Ann M.; Victoria, Teresa [The Children' s Hospital of Philadelphia, Radiology Department, Philadelphia, PA (United States); Degenhardt, Karl; Rychik, Jack [The Children' s Hospital of Philadelphia, Cardiac Center and Fetal Heart Program, Philadelphia, PA (United States); Iyoob, Suzanne D.; Johnson, Mark P. [The Children' s Hospital of Philadelphia, Center for Fetal Diagnosis and Treatment, Philadelphia, PA (United States); Surrey, Lea F. [The Children' s Hospital of Philadelphia, Pathology Department, Philadelphia, PA (United States)

    2016-04-15

    Hypoplastic left heart syndrome (HLHS) is the third most common cause of critical congenital heart disease in newborns, and one of the most challenging forms to treat. Secondary pulmonary lymphangiectasia has been recognized in association with HLHS, an appearance described on fetal MRI as the ''nutmeg lung.'' To investigate the association of fetal nutmeg lung with HLHS survival. A retrospective search of the fetal MRI database was performed. The nutmeg lung pattern was defined as T2 heterogeneous signal with tubular structures radiating peripherally from the hila. Postnatal echocardiograms and charts were reviewed. Forty-four fetal MR studies met inclusion criteria, of which 4 patients (9%) had the nutmeg lung pattern and 3 of whom also had restrictive lesions. Mortality in this nutmeg lung group was 100% by 5 months of age. Of the 40 patients without nutmeg lung, mortality/orthotopic heart transplant (OHT) was 35%. Of these 40 patients without nutmeg lung, 5 had restriction on echo, 3 of whom died/had OHT before 5 months of age (60% of patients with restriction and non-nutmeg lung). There was a significantly higher incidence of restrictive lesions (P = 0.02) and mortality/OHT (P = 0.02) in patients with nutmeg lung compared to those without. The nutmeg lung MR appearance in HLHS fetuses is associated with increased mortality/OHT (100% in the first 5 months of life compared to 35% with HLHS alone). Not all patients with restrictive lesions develop nutmeg lung, and outcome is not as poor when restriction is present in isolation. Dedicated evaluation for nutmeg lung pattern on fetal MR studies may be useful to guide prognostication and aid clinicians in counseling parents of fetuses with HLHS. (orig.)

  7. Is "treat your child normally" helpful advice for parents of survivors of treatment of hypoplastic left heart syndrome?

    Science.gov (United States)

    Rempel, Gwen R; Harrison, Margaret J; Williamson, Deanna L

    2009-04-01

    Developing technology affords children with complex congenitally malformed hearts a chance for survival. Parents gratefully pursue life-saving options on behalf of their children, despite the risks to the life of their child, and uncertainty about outcomes. Little is known about how mothers and fathers experience parenting a child whose new state as a survivor may include less than optimal developmental sequels. Our study involved multiple interactive interviews with 9 mothers and 7 fathers of infants and preschool children with hypoplastic left heart syndrome who had survived the Norwood surgical approach. Qualitative methodology included grounded theory methods of simultaneous collection and analysis of data, and we used open and selective coding of transcribed interviews. Parents used normalization in the context of uncertainty regarding the ongoing survival of their child. Parents described their underweight children as being on their own growth curve, and viewed their developmental progress, however delayed, as reason for celebration, as they had been prepared for their child to die. There is growing evidence that children with congenitally malformed hearts who require surgical intervention during the first year of life may experience developmental delay. The use of normalization by their parents may be effective in decreasing their worry regarding the uncertain future faced by their child, but may negatively affect the developmental progress of the child if they do not seek resources to assist development. Advice from paediatric specialists for parents to view their children as normal needs to be balanced with assistance for parents to access services to support optimal growth and development of their child.

  8. Hypoplastic left heart syndrome and the nutmeg lung pattern in utero: a cause and effect relationship or prognostic indicator?

    International Nuclear Information System (INIS)

    Saul, David; Johnson, Ann M.; Victoria, Teresa; Degenhardt, Karl; Rychik, Jack; Iyoob, Suzanne D.; Johnson, Mark P.; Surrey, Lea F.

    2016-01-01

    Hypoplastic left heart syndrome (HLHS) is the third most common cause of critical congenital heart disease in newborns, and one of the most challenging forms to treat. Secondary pulmonary lymphangiectasia has been recognized in association with HLHS, an appearance described on fetal MRI as the ''nutmeg lung.'' To investigate the association of fetal nutmeg lung with HLHS survival. A retrospective search of the fetal MRI database was performed. The nutmeg lung pattern was defined as T2 heterogeneous signal with tubular structures radiating peripherally from the hila. Postnatal echocardiograms and charts were reviewed. Forty-four fetal MR studies met inclusion criteria, of which 4 patients (9%) had the nutmeg lung pattern and 3 of whom also had restrictive lesions. Mortality in this nutmeg lung group was 100% by 5 months of age. Of the 40 patients without nutmeg lung, mortality/orthotopic heart transplant (OHT) was 35%. Of these 40 patients without nutmeg lung, 5 had restriction on echo, 3 of whom died/had OHT before 5 months of age (60% of patients with restriction and non-nutmeg lung). There was a significantly higher incidence of restrictive lesions (P = 0.02) and mortality/OHT (P = 0.02) in patients with nutmeg lung compared to those without. The nutmeg lung MR appearance in HLHS fetuses is associated with increased mortality/OHT (100% in the first 5 months of life compared to 35% with HLHS alone). Not all patients with restrictive lesions develop nutmeg lung, and outcome is not as poor when restriction is present in isolation. Dedicated evaluation for nutmeg lung pattern on fetal MR studies may be useful to guide prognostication and aid clinicians in counseling parents of fetuses with HLHS. (orig.)

  9. Prevalence, associated factors and heritabilities of metabolic syndrome and its individual components in African Americans: the Jackson Heart Study.

    Science.gov (United States)

    Khan, Rumana J; Gebreab, Samson Y; Sims, Mario; Riestra, Pia; Xu, Ruihua; Davis, Sharon K

    2015-11-01

    Both environmental and genetic factors play important roles in the development of metabolic syndrome (MetS). Studies about its associated factors and genetic contribution in African Americans (AA) are sparse. Our aim was to report the prevalence, associated factors and heritability estimates of MetS and its components in AA men and women. Data of this cross-sectional study come from a large community-based Jackson Heart Study (JHS). We analysed a total of 5227 participants, of whom 1636 from 281 families were part of a family study subset of JHS. Participants were classified as having MetS according to the Adult Treatment Panel III criteria. Multiple logistic regression analysis was performed to isolate independently associated factors of MetS (n=5227). Heritability was estimated from the family study subset using variance component methods (n=1636). About 27% of men and 40% of women had MetS. For men, associated factors with having MetS were older age, lower physical activity, higher body mass index, and higher homocysteine and adiponectin levels (pmetabolism playing a central role in the development of MetS and encourage additional efforts to identify the underlying susceptibility genes for this syndrome in AA. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  10. IGF-I replacement therapy in children with congenital IGF-I deficiency (Laron syndrome) maintains heart dimension and function.

    Science.gov (United States)

    Scheinowitz, Mickey; Feinberg, Micha S; Laron, Zvi

    2009-06-01

    Untreated patients with congenital growth hormone deficiency (GHD) and IGF-I deficiency are characterized not only by dwarfism but also by acromicria and organomicria, such as the heart. We assessed cardiac dimensions and function in very young patients with Laron syndrome (LS) undergoing IGF-I replacement therapy. Two to seven echocardiographic measurements were performed during IGF-I replacement therapy on male (n=4) and female (n=4) LS -patients, mean+/-SD age of 7.1+/-3.6 years (range 1.6-11.6 years), weight 16.1+/-9.7 kg, and height 89.9+/-18.5 cm. As aged- and gender-matched controls served 44 healthy children, age: 8.7+/-5.5 years, weight: 36.1+/-22.4 kg, and height: 129.7+/-33.1cm. Data of LS patients were normalized to body surface area and compared to the control group as well as nomograms of normal echocardiographic parameters for this age group. Left ventricular diastolic and systolic dimensions (LVDD/ LVSD, mm) and LV mass (gr) were significantly smaller in boys and girls with IGF-I treated LS compared with controls while the shortening fraction (%) and intraventricular septum thickness (mm) were similar. When compared with standard values for this age group, all treated LS patients were within 1 standard deviation of the mean. IGF-I therapy of young patients with Laron syndrome maintain LV dimensions and function within the normal range of aged-matched controls.

  11. Metabolomic profiling reveals distinct patterns of tricarboxylic acid disorders in blood stasis syndrome associated with coronary heart disease.

    Science.gov (United States)

    Wang, Yong; Li, Chun; Chang, Hong; Lu, Ling-Hui; Qiu, Qi; Ouyang, Yu-Lin; Yu, Jun-da; Guo, Shu-Zhen; Han, Jing; Wang, Wei

    2016-08-01

    To investigate the underlying metabolomic profifiling of coronary heart disease (CHD) with blood stasis syndrome (BSS). CHD model was induced by a nameroid constrictor in Chinese miniature swine. Fifteen miniature swine were randomly divided into a model group (n=9) and a control group (n=6), respectively according to arandom number table. After 4 weeks, plasma hemorheology was detected by automatic hemorheological analyzer, indices including hematocrit, plasma viscosity, blood viscosity, rigidity index and erythrocyte sedimentation rate; cardiac function was assessed by echocardiograph to detect left ventricular end-systolic diameter (LVED), left ventricular end-diastolic diameter (LVEDd), ejection fraction (EF), fractional shortening (FS) and other indicators. Gas chromatography coupled with mass spectrometry (GC-MS) and bioinformatics were applied to analyze spectra of CHD plasma with BSS. The results of hemorheology analysis showed signifificant changes in viscosity, with low shear whole blood viscosity being lower and plasma viscosity higher in the model group compared with the control group. Moreover, whole blood reduction viscosity at high shear rate and whole blood reduction viscosity at low shear rate increased signifificantly (P patterns involved were associated with dysfunction of energy metabolism including glucose and lipid disorders, especially in glycolysis/gluconeogenesis, galactose metabolism and adenosine-triphosphate-binding cassette transporters. Glucose metabolism and lipid metabolism disorders were the major contributors to the syndrome classifification of CHD with BSS.

  12. Integrated Modules Analysis to Explore the Molecular Mechanisms of Phlegm-Stasis Cementation Syndrome with Ischemic Heart Disease

    Science.gov (United States)

    Xu, Wei-Ming; Yang, Kuo; Jiang, Li-Jie; Hu, Jing-Qing; Zhou, Xue-Zhong

    2018-01-01

    Background: Ischemic heart disease (IHD) has been the leading cause of death for several decades globally, IHD patients usually hold the symptoms of phlegm-stasis cementation syndrome (PSCS) as significant complications. However, the underlying molecular mechanisms of PSCS complicated with IHD have not yet been fully elucidated. Materials and Methods: Network medicine methods were utilized to elucidate the underlying molecular mechanisms of IHD phenotypes. Firstly, high-quality IHD-associated genes from both human curated disease-gene association database and biomedical literatures were integrated. Secondly, the IHD disease modules were obtained by dissecting the protein-protein interaction (PPI) topological modules in the String V9.1 database and the mapping of IHD-associated genes to the PPI topological modules. After that, molecular functional analyses (e.g., Gene Ontology and pathway enrichment analyses) for these IHD disease modules were conducted. Finally, the PSCS syndrome modules were identified by mapping the PSCS related symptom-genes to the IHD disease modules, which were further validated by both pharmacological and physiological evidences derived from published literatures. Results: The total of 1,056 high-quality IHD-associated genes were integrated and evaluated. In addition, eight IHD disease modules (the PPI sub-networks significantly relevant to IHD) were identified, in which two disease modules were relevant to PSCS syndrome (i.e., two PSCS syndrome modules). These two modules had enriched pathways on Toll-like receptor signaling pathway (hsa04620) and Renin-angiotensin system (hsa04614), with the molecular functions of angiotensin maturation (GO:0002003) and response to bacterium (GO:0009617), which had been validated by classical Chinese herbal formulas-related targets, IHD-related drug targets, and the phenotype features derived from human phenotype ontology (HPO) and published biomedical literatures. Conclusion: A network medicine

  13. Integrated Modules Analysis to Explore the Molecular Mechanisms of Phlegm-Stasis Cementation Syndrome with Ischemic Heart Disease

    Directory of Open Access Journals (Sweden)

    Wei-Ming Xu

    2018-01-01

    Full Text Available Background: Ischemic heart disease (IHD has been the leading cause of death for several decades globally, IHD patients usually hold the symptoms of phlegm-stasis cementation syndrome (PSCS as significant complications. However, the underlying molecular mechanisms of PSCS complicated with IHD have not yet been fully elucidated.Materials and Methods: Network medicine methods were utilized to elucidate the underlying molecular mechanisms of IHD phenotypes. Firstly, high-quality IHD-associated genes from both human curated disease-gene association database and biomedical literatures were integrated. Secondly, the IHD disease modules were obtained by dissecting the protein-protein interaction (PPI topological modules in the String V9.1 database and the mapping of IHD-associated genes to the PPI topological modules. After that, molecular functional analyses (e.g., Gene Ontology and pathway enrichment analyses for these IHD disease modules were conducted. Finally, the PSCS syndrome modules were identified by mapping the PSCS related symptom-genes to the IHD disease modules, which were further validated by both pharmacological and physiological evidences derived from published literatures.Results: The total of 1,056 high-quality IHD-associated genes were integrated and evaluated. In addition, eight IHD disease modules (the PPI sub-networks significantly relevant to IHD were identified, in which two disease modules were relevant to PSCS syndrome (i.e., two PSCS syndrome modules. These two modules had enriched pathways on Toll-like receptor signaling pathway (hsa04620 and Renin-angiotensin system (hsa04614, with the molecular functions of angiotensin maturation (GO:0002003 and response to bacterium (GO:0009617, which had been validated by classical Chinese herbal formulas-related targets, IHD-related drug targets, and the phenotype features derived from human phenotype ontology (HPO and published biomedical literatures.Conclusion: A network medicine

  14. Integrated Modules Analysis to Explore the Molecular Mechanisms of Phlegm-Stasis Cementation Syndrome with Ischemic Heart Disease.

    Science.gov (United States)

    Xu, Wei-Ming; Yang, Kuo; Jiang, Li-Jie; Hu, Jing-Qing; Zhou, Xue-Zhong

    2018-01-01

    Background: Ischemic heart disease (IHD) has been the leading cause of death for several decades globally, IHD patients usually hold the symptoms of phlegm-stasis cementation syndrome (PSCS) as significant complications. However, the underlying molecular mechanisms of PSCS complicated with IHD have not yet been fully elucidated. Materials and Methods: Network medicine methods were utilized to elucidate the underlying molecular mechanisms of IHD phenotypes. Firstly, high-quality IHD-associated genes from both human curated disease-gene association database and biomedical literatures were integrated. Secondly, the IHD disease modules were obtained by dissecting the protein-protein interaction (PPI) topological modules in the String V9.1 database and the mapping of IHD-associated genes to the PPI topological modules. After that, molecular functional analyses (e.g., Gene Ontology and pathway enrichment analyses) for these IHD disease modules were conducted. Finally, the PSCS syndrome modules were identified by mapping the PSCS related symptom-genes to the IHD disease modules, which were further validated by both pharmacological and physiological evidences derived from published literatures. Results: The total of 1,056 high-quality IHD-associated genes were integrated and evaluated. In addition, eight IHD disease modules (the PPI sub-networks significantly relevant to IHD) were identified, in which two disease modules were relevant to PSCS syndrome (i.e., two PSCS syndrome modules). These two modules had enriched pathways on Toll-like receptor signaling pathway (hsa04620) and Renin-angiotensin system (hsa04614), with the molecular functions of angiotensin maturation (GO:0002003) and response to bacterium (GO:0009617), which had been validated by classical Chinese herbal formulas-related targets, IHD-related drug targets, and the phenotype features derived from human phenotype ontology (HPO) and published biomedical literatures. Conclusion: A network medicine

  15. Neuroleptic malignant syndrome during zuclopenthixol therapy in X-linked cerebral adrenoleukodystrophy.

    NARCIS (Netherlands)

    Rubio Gozalbo, M.E.; Waardenburg, D.A. van; Forget, P.P.; Spaapen, L.J.; Verrips, A.; Vroomen, P.C.

    2001-01-01

    An 8 year-old boy with X-ALD under treatment with simvastatin developed a severe adverse reaction when the dose of his other medication, zuclopenthixol was increased. Both drugs were withdrawn after a diagnosis of neuroleptic malignant syndrome was made.

  16. Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.

    Science.gov (United States)

    Gasparini, P; De Fazio, A; Croce, A I; Stanziale, P; Zelante, L

    1998-08-01

    We report an Italian family affected by Usher type III syndrome. Linkage study, performed using markers corresponding to the Usher loci already mapped, clearly showed linkage with markers on chromosome 3q24-25. Our data further support the presence of an Usher III locus on chromosome 3, as recently reported in a Finnish population.

  17. Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.

    OpenAIRE

    Gasparini, P; De Fazio, A; Croce, A I; Stanziale, P; Zelante, L

    1998-01-01

    We report an Italian family affected by Usher type III syndrome. Linkage study, performed using markers corresponding to the Usher loci already mapped, clearly showed linkage with markers on chromosome 3q24-25. Our data further support the presence of an Usher III locus on chromosome 3, as recently reported in a Finnish population.

  18. Neuronal activation by mucosal biopsy supernatants from irritable bowel syndrome patients is linked to visceral sensitivity

    NARCIS (Netherlands)

    Buhner, Sabine; Braak, Breg; Li, Qin; Kugler, Eva Maria; Klooker, Tamira; Wouters, Mira; Donovan, Jemma; Vignali, Sheila; Mazzuoli-Weber, Gemma; Grundy, David; Boeckxstaens, Guy; Schemann, Michael

    2014-01-01

    Based on the discomfort/pain threshold during rectal distension, irritable bowel syndrome (IBS) patients may be subtyped as normo- or hypersensitive. We previously showed that mucosal biopsy supernatants from IBS patients activated enteric and visceral afferent neurons. We tested the hypothesis that

  19. Interaction between the helicases genetically linked to Fanconi anemia group J and Bloom's syndrome

    DEFF Research Database (Denmark)

    Suhasini, Avvaru N; Rawtani, Nina A; Wu, Yuliang

    2011-01-01

    Bloom's syndrome (BS) and Fanconi anemia (FA) are autosomal recessive disorders characterized by cancer and chromosomal instability. BS and FA group J arise from mutations in the BLM and FANCJ genes, respectively, which encode DNA helicases. In this work, FANCJ and BLM were found to interact...

  20. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions ... agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  1. Aarskog syndrome

    Science.gov (United States)

    Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

  2. Usefulness of admission gamma-glutamyltransferase level for predicting new-onset heart failure in patients with acute coronary syndrome with left ventricular systolic dysfunction.

    Science.gov (United States)

    Sarıkaya, Savaş; Aydın, Gülay; Yücel, Hasan; Kaya, Hakkı; Yıldırımlı, Kutay; Başaran, Ahmet; Zorlu, Ali; Sahin, Safak; Akyol, Lütfü; Bulut, Musa

    2014-04-01

    Our aim was to determine whether there is a relationship between admission gamma-glutamyltransferase (GGT) and subsequent heart failure hospitalizations in patients with acute coronary syndrome. We selected 123 patients with newly diagnosed acute coronary syndrome of ejection fraction (EF) 49 IU/L on admission, presence of hypertension and hyperlipidemia, left ventricular ejection fraction (LVEF), right ventricular dysfunction, moderate-to-severe mitral regurgitation, alanine aminotransferase level, and antiplatelet agent usage were found to have prognostic significance in univariate Cox proportional hazards analysis. In multivariate Cox proportional-hazards model, increased GGT >49 IU/L on admission (hazard ratio [HR] 2.663, p=0.047), presence of hypertension (HR 4.107, p=0.007), and LVEF (HR 0.911, p=0.002) were found to be independent factors to predict new-onset heart failure requiring hospitalization. Hospitalization in heart failure was associated with increased admission GGT levels. Increased admission GGT level in acute coronary syndrome with heart failure should be monitored closely and treated aggressively.

  3. Prophylactic milrinone for the prevention of low cardiac output syndrome and mortality in children undergoing surgery for congenital heart disease.

    Science.gov (United States)

    Burkhardt, Barbara E U; Rücker, Gerta; Stiller, Brigitte

    2015-03-25

    Children with congenital heart disease often undergo heart surgery at a young age. They are at risk for postoperative low cardiac output syndrome (LCOS) or death. Milrinone may be used to provide inotropic and vasodilatory support during the immediate postoperative period. This review examines the effectiveness of prophylactic postoperative use of milrinone to prevent LCOS or death in children having undergone surgery for congenital heart disease. Electronic and manual literature searches were performed to identify randomised controlled trials. We searched CENTRAL, MEDLINE, EMBASE and Web of Science in February 2014 and conducted a top-up search in September 2014 as well as clinical trial registries and reference lists of published studies. We did not apply any language restrictions. Only randomised controlled trials were selected for analysis. We considered studies with newborn infants, infants, toddlers, and children up to 12 years of age. Two review authors independently extracted data according to a pre-defined protocol. We obtained additional information from all study authors. Three of the five included studies compared milrinone versus levosimendan, one study compared milrinone with placebo, and one compared milrinone verus dobutamine, with 101, 242, and 50 participants, respectively. Three trials were at low risk of bias while two were at higher risk of bias. The number and definitions of outcomes were non-uniform as well. In one study comparing two doses of milrinone and placebo, there was some evidence in an overall comparison of milrinone versus placebo that milrinone lowered risk for LCOS (risk ratio (RR) 0.52, 95% confidence interval (CI) 0.28 to 0.96; 227 participants). The results from two small studies do not provide enough information to determine whether milrinone increases the risk of LCOS when compared to levosimendan (RR 1.22, 95% CI 0.32 to 4.65; 59 participants). Mortality rates in the studies were low, and there was insufficient evidence to

  4. [Clinical demonstrations: Heart rupture in acute myocardial infarct. Infectious endocarditis. Wolff-Parkinson-White syndrome].

    Science.gov (United States)

    Nager, F

    1984-12-08

    This clinical demonstration includes three topics of clinical cardiology: myocardial rupture in acute myocardial infarction, infective endocarditis, and WPW-syndrome with paroxysmal supraventricular tachycardia. In the first part three cases with septal perforation or papillary muscle rupture are demonstrated. Our experience with myocardial rupture (free wall, septum, papillary muscle) during the last six years is summarized with special reference to the significance and the differential diagnosis of systolic regurgitant murmurs after myocardial infarction. Special features of acute mitral incompetence (papillary muscle dysfunction) in myocardial infarction are outlined and diagnostic guidelines for differentiation between septal perforation and papillary muscle rupture are discussed. In the second part two patients with aortic (e.g. mitral) valve rupture in the course of infective endocarditis are presented. The synoptic comparison of these two patients is related to the results of our own clinical studies on the changing pattern of infective endocarditis (epidemiologically, clinically) during the last three decades. The clinical picture of acute aortic valve rupture is outlined and the bedside signs indicating catastrophic complications of infective endocarditis are summarized. In the third part the odyssey of a patient with WPW-syndrome and consecutive paroxysmal supraventricular tachycardia is described. Progress in electrophysiological analysis of the re-entry circles in preexcitation syndromes is outlined.

  5. Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.

    Science.gov (United States)

    Naves, Luciana A; Daly, Adrian F; Dias, Luiz Augusto; Yuan, Bo; Zakir, Juliano Coelho Oliveira; Barra, Gustavo Barcellos; Palmeira, Leonor; Villa, Chiara; Trivellin, Giampaolo; Júnior, Armindo Jreige; Neto, Florêncio Figueiredo Cavalcante; Liu, Pengfei; Pellegata, Natalia S; Stratakis, Constantine A; Lupski, James R; Beckers, Albert

    2016-02-01

    X-linked acro-gigantism (X-LAG) syndrome is a newly described disease caused by microduplications on chromosome Xq26.3 leading to copy number gain of GPR101. We describe the clinical progress of a sporadic male X-LAG syndrome patient with an Xq26.3 microduplication, highlighting the aggressive natural history of pituitary tumor growth in the absence of treatment. The patient first presented elsewhere aged 5 years 8 months with a history of excessive growth for >2 years. His height was 163 cm, his weight was 36 kg, and he had markedly elevated GH and IGF-1. MRI showed a non-invasive sellar mass measuring 32.5 × 23.9 × 29.1 mm. Treatment was declined and the family was lost to follow-up. At the age of 10 years and 7 months, he presented again with headaches, seizures, and visual disturbance. His height had increased to 197 cm. MRI showed an invasive mass measuring 56.2 × 58.1 × 45.0 mm, with compression of optic chiasma, bilateral cavernous sinus invasion, and hydrocephalus. His thyrotrope, corticotrope, and gonadotrope axes were deficient. Surgery, somatostatin analogs, and cabergoline did not control vertical growth and pegvisomant was added, although vertical growth continues (currently 207 cm at 11 years 7 months of age). X-LAG syndrome is a new genomic disorder in which early-onset pituitary tumorigenesis can lead to marked overgrowth and gigantism. This case illustrates the aggressive nature of tumor evolution and the challenging clinical management in X-LAG syndrome.

  6. A population-based analysis of mortality in patients with Turner syndrome and hypoplastic left heart syndrome using the Texas Birth Defects Registry.

    Science.gov (United States)

    Lara, Diego A; Ethen, Mary K; Canfield, Mark A; Nembhard, Wendy N; Morris, Shaine A

    2017-01-01

    Hypoplastic left heart syndrome (HLHS) is strongly associated with Turner syndrome (TS); outcome data when these conditions coexist is sparse. We aimed to investigate long-term survival and causes of death in this population. The Texas Birth Defects Registry was queried for all live born infants with HLHS during 1999-2007. We used Kaplan-Meier and Cox regression analyses to compare survival among patients with HLHS with TS (HLHS/TS+) to patients who had HLHS without genetic disorders or extracardiac birth defects (HLHS/TS-). Of the 542 patients with HLHS, 11 had TS (2.0%), 71 had other extracardiac birth defects or genetic disorders, and 463 had neither. The median follow-up time was 4.2 y (interquartile range [IQR] 2.1-6.5). Comparing those with HLHS/TS+ to HLHS/TS-, 100% versus 35% were female (P < .001), and median birth weight was 2140 g (IQR 1809-2650) versus 3196 g (IQR 2807-3540, P < .001). Neonatal mortality was 36% in HLHS/TS+ versus 27% in HLHS/TS- (log rank = 0.431). Ten of the 11 TS+ patients died during the study period for cumulative mortality of 91% versus 50% (hazard ratio (HR) for TS+: 2.90, 95% CI 1.53-5.48). Six patients died prior to surgery, 5 underwent Stage 1 palliation (S1P), 3 died after S1P, 2 survived past S2P, and one of these died at age 19 mo. The underlying cause of death was listed as congenital heart disease on all the death certificates of HLHS/TS+ patients. In multivariable analysis controlling for low birth weight (<2500 g), TS remained associated with significantly increased cumulative mortality, although females without TS had higher mortality than males (HR for TS+ versus males: 2.42, 95% CI 1.24-4.73; HR for TS- females versus males: 1.41, 95% CI 1.08-1.83). TS with HLHS is associated with significant mortality. The increased mortality in females without documented TS calls to question if TS is undetected in a portion of females with HLHS. © 2016 Wiley Periodicals, Inc.

  7. Short- and Long-Term Prognostic Utility of the HEART Score in Patients Evaluated in the Emergency Department for Possible Acute Coronary Syndrome.

    Science.gov (United States)

    Jain, Tarun; Nowak, Richard; Hudson, Michael; Frisoli, Tiberio; Jacobsen, Gordon; McCord, James

    2016-06-01

    The HEART score is a risk-stratification tool that was developed and validated for patients evaluated for possible acute coronary syndrome (ACS) in the emergency department (ED). We sought to determine the short-term and long-term prognostic utility of the HEART score. A retrospective single-center analysis of 947 patients evaluated for possible ACS in the ED in 1999 was conducted. Patients were followed for major adverse cardiac events (MACEs) at 30 days: death, acute myocardial infarction, or revascularization procedure. All-cause mortality was assessed at 5 years. The HEART score was compared with the Thrombolysis in Myocardial Infarction (TIMI) score. At 30 days, 14% (135/947) of patients had an MACE: 48 deaths (5%), 84 acute myocardial infarctions (9%), and 48 (5%) revascularization procedures. The MACE rate in patients with HEART score ≤3 was 0.6% (1/175) involving a revascularization procedure, 9.5% (53/557) in patients with HEART score between 4 and 6, and 38% (81/215) with HEART score ≥7. The C-statistic for the HEART score was 0.82 and 0.68 for the TIMI score for predicting 30-day MACE (P < 0.05). Patients with HEART score ≤3 had lower 5-year mortality rate compared with those with TIMI score of 0 (10.6% vs. 20.5%, P = 0.02). The HEART score is a valuable risk-stratification tool in predicting not only short-term MACE but also long-term mortality in patients evaluated for possible ACS in the ED. The HEART score had a superior prognostic value compared with the TIMI score.

  8. IN SEARCH OF THE MISSING LINK: SERUM LIPID PROFILE, TROPONIN T AND ACUTE CORONARY SYNDROME.

    OpenAIRE

    Basabdatta Samanta; Bharti Kawatra; Sandip

    2014-01-01

    Acute coronary syndrome is one of the leading causes of morbidity and mortality worldwide , hyperlipidemias being a major predisposing factor. Cardiac Troponin T (cTnT) is one of the most sensitive and specific biomarkers of myocardial injury. The aim of the study was to evaluate the relationship among TnT levels and lipid profiles of different age groups of patients with ACS , and to determine if any the association of age with lipid profile and TnT levels. The ...

  9. The association of congenital neuroblastoma and congenital heart disease

    International Nuclear Information System (INIS)

    Bellah, R.; D'Andrea, A.; Children's Hospital, Boston, MA; Darillis, E.; Fellows, K.E.

    1989-01-01

    Several authors have reported an association between neuroblastoma and congenital heart disease; others contend that, unlike specific wellknown associations between malignancy and congenital defects (Wilm's tumor and aniridia, leukemia and Down's syndrome), no real relationship exists. We present three cases of cyanotic congenital heart disease in which subclinical neuroblastoma was found. We speculate that abnormal neural crest cell migration and development may be a common link between cardiac malformations and congenital neuroblastoma. (orig.)

  10. A novel heart rate control model provides insights linking LF-HRV behavior to the open-loop gain.

    Science.gov (United States)

    Dvir, Hila; Bobrovsky, Ben Zion; Gabbay, Uri

    2013-09-20

    Low-frequency heart rate variability (LF-HRV) at rest has already been successfully modeled as self-sustained oscillations in a nonlinear control loop, but these models fail to simulate LF-HRV decreases either during aerobic exercise or in heart failure patients. Following control engineering practices, we assume the existence of a biological excitation (dither) within the heart rate control loop that softens the nonlinearity and studied LF-HRV behavior in a dither-embedded model. We adopted the Ottesen model with some revisions and induced a dither of high-frequency stochastic perturbations. We simulated scenarios of a healthy subject at rest and during aerobic exercise (by decreasing peripheral vascular resistance) and a heart failure patient (by decreasing stroke volume). The simulations resembled physiological LF-HRV behavior, i.e., LF-HRV decreased during aerobic exercise and in the heart failure patient. The simulations exhibited LF-HRV dependency on the open-loop gain, which is related to the product of the feedback gain and the feed forward gain. We are the first to demonstrate that LF-HRV may be dependent on the open-loop gain. Accordingly, reduced open-loop gain results in decreased LF-HRV, and vice versa. Our findings explain a well-known but unexplained observed phenomenon of reduced LF-HRV both in heart failure patients and in healthy subjects performing aerobic exercise. These findings have implications on how changes in LF-HRV can be interpreted physiologically, a necessary step towards the clinical utilization of LF-HRV. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  11. Independent associations between a metabolic syndrome severity score and future diabetes by sex and race: the Atherosclerosis Risk In Communities Study and Jackson Heart Study.

    Science.gov (United States)

    Gurka, Matthew J; Golden, Sherita H; Musani, Solomon K; Sims, Mario; Vishnu, Abhishek; Guo, Yi; Cardel, Michelle; Pearson, Thomas A; DeBoer, Mark D

    2017-07-01

    The study aimed to assess for an association between the degree of severity of the metabolic syndrome and risk of type 2 diabetes beyond that conferred by the individual components of the metabolic syndrome. We assessed HRs for an Adult Treatment Panel III (ATP-III) metabolic syndrome score (ATP-III MetS) and a sex- and race-specific continuous metabolic syndrome severity z score related to incident diabetes over a median of 7.8 years of follow-up among participants of two observational cohorts, the Atherosclerosis Risk in Communities study (n = 10,957) and the Jackson Heart Study (n = 2137). The ATP-III MetS had an HR for incident diabetes of 4.36 (95% CI 3.83, 4.97), which was attenuated in models that included the individual metabolic syndrome components. By contrast, participants in the fourth quartile of metabolic syndrome severity (compared with the first quartile) had an HR of 17.4 (95% CI 12.6, 24.1) for future diabetes; in models that also included the individual metabolic syndrome components, this remained significant, with an HR of 3.69 (95% CI 2.42, 5.64). There was a race × metabolic syndrome interaction in these models such that HR was greater for black participants (5.30) than white participants (2.24). When the change in metabolic syndrome severity score was included in the hazard models, this conferred a further association, with changes in metabolic syndrome severity score of ≥0.5 having a HR of 2.66 compared with changes in metabolic syndrome severity score of ≤0. Use of a continuous sex- and race-specific metabolic syndrome severity z score provided an additional prediction of risk of diabetes beyond that of the individual metabolic syndrome components, suggesting an added risk conferred by the processes underlying the metabolic syndrome. Increases in this score over time were associated with further risk, supporting the potential clinical utility of following metabolic syndrome severity over time.

  12. Polycystic ovary syndrome (PCOS) and the risk of coronary heart disease (CHD): a meta-analysis

    OpenAIRE

    Zhao, Luqian; Zhu, Zhigang; Lou, Huiling; Zhu, Guodong; Huang, Weimin; Zhang, Shaogang; Liu, Feng

    2016-01-01

    Some studies reported a significant association between polycystic ovary syndrome (PCOS) and risk of cardiovascular disease (CVD). However, the results are controversial. A systematic search was conducted in the PubMed, Science Direct, EMBASE, and Cochrane Library databases. Five case-control studies and 5 cohort studies were selected, involving a total of 104392 subjects in this meta-analysis. PCOS was significantly associated with the increased risk of CVD (OR = 1.30; 95% CI 1.09 ? 1.56; P ...

  13. Síndrome do coração partido (síndrome de Takotsubo Broken-heart syndrome (Takotsubo syndrome

    Directory of Open Access Journals (Sweden)

    Alessandra Edna Teófilo Lemos

    2008-01-01

    Full Text Available A cardiopatia induzida por estresse (precipitada por estresse emocional, também chamada de balonamento apical transitório do ventrículo esquerdo, síndrome do coração partido e, no Japão, síndrome de takotsubo, é caracterizada pela presença de movimento discinético transitório da parede anterior do ventrículo esquerdo, com acentuação da cinética da base ventricular. O curso clínico da cardiomiopatia de takotsubo pode se assemelhar ao do infarto agudo do miocárdio, com dor torácica típica e alterações eletrocardiográficas, sendo a cineangiocoronariografia realizada para distinguir as duas condições na fase aguda.Stress-induced cardiomyopathy, also know as reversible left ventricular apical ballooning, " Broken-Heart" syndrome, and in Japan, Takotsubo, is characterized by the presence of a transient left ventricular dyskinetic movement of the anterior wall of with hypercontraction of the ventricular basilar segments precipitated by emotional stress. The clinical course of Takotsubo cardiomyopathy is similar to that of an acute myocardial infarct with typical chest pain and electrocardiographic changes, and during the acute phase, coronary angiography is used to distinguish between the two conditions.

  14. Heart rate at admission is a predictor of in-hospital mortality in patients with acute coronary syndromes: Results from 58 European hospitals: The European Hospital Benchmarking by Outcomes in acute coronary syndrome Processes study.

    Science.gov (United States)

    Jensen, Magnus T; Pereira, Marta; Araujo, Carla; Malmivaara, Anti; Ferrieres, Jean; Degano, Irene R; Kirchberger, Inge; Farmakis, Dimitrios; Garel, Pascal; Torre, Marina; Marrugat, Jaume; Azevedo, Ana

    2018-03-01

    The purpose of this study was to investigate the relationship between heart rate at admission and in-hospital mortality in patients with ST-segment elevation myocardial infarction (STEMI) and non-ST-segment elevation acute coronary syndrome (NSTE-ACS). Consecutive ACS patients admitted in 2008-2010 across 58 hospitals in six participant countries of the European Hospital Benchmarking by Outcomes in ACS Processes (EURHOBOP) project (Finland, France, Germany, Greece, Portugal and Spain). Cardiogenic shock patients were excluded. Associations between heart rate at admission in categories of 10 beats per min (bpm) and in-hospital mortality were estimated by logistic regression in crude models and adjusting for age, sex, obesity, smoking, hypertension, diabetes, known heart failure, renal failure, previous stroke and ischaemic heart disease. In total 10,374 patients were included. In both STEMI and NSTE-ACS patients, a U-shaped relationship between admission heart rate and in-hospital mortality was found. The lowest risk was observed for heart rates between 70-79 bpm in STEMI and 60-69 bpm in NSTE-ACS; risk of mortality progressively increased with lower or higher heart rates. In multivariable models, the relationship persisted but was significant only for heart rates >80 bpm. A similar relationship was present in both patients with or without diabetes, above or below age 75 years, and irrespective of the presence of atrial fibrillation or use of beta-blockers. Heart rate at admission is significantly associated with in-hospital mortality in patients with both STEMI and NSTE-ACS. ACS patients with admission heart rate above 80 bpm are at highest risk of in-hospital mortality.

  15. Twenty years of vasoplegic syndrome treatment in heart surgery. Methylene blue revised

    Directory of Open Access Journals (Sweden)

    Paulo Roberto Barbosa Evora

    2015-02-01

    Full Text Available Objective: This study was conducted to reassess the concepts established over the past 20 years, in particular in the last 5 years, about the use of methylene blue in the treatment of vasoplegic syndrome in cardiac surgery. Methods: A wide literature review was carried out using the data extracted from: MEDLINE, SCOPUS and ISI WEB OF SCIENCE. Results: The reassessed and reaffirmed concepts were 1 MB is safe in the recommended doses (the lethal dose is 40 mg/kg; 2 MB does not cause endothelial dysfunction; 3 The MB effect appears in cases of NO up-regulation; 4 MB is not a vasoconstrictor, by blocking the cGMP pathway it releases the cAMP pathway, facilitating the norepinephrine vasoconstrictor effect; 5 The most used dosage is 2 mg/kg as IV bolus, followed by the same continuous infusion because plasma concentrations sharply decrease in the first 40 minutes; and 6 There is a possible "window of opportunity" for MB's effectiveness. In the last five years, major challenges were: 1 Observations about side effects; 2 The need for prophylactic and therapeutic guidelines, and; 3 The need for the establishment of the MB therapeutic window in humans. Conclusion: MB action to treat vasoplegic syndrome is time-dependent. Therefore, the great challenge is the need, for the establishment the MB therapeutic window in humans. This would be the first step towards a systematic guideline to be followed by possible multicenter studies.

  16. Prenatal diagnosis of hypoplastic left heart syndrome: impact of counseling patterns on parental perceptions and decisions regarding termination of pregnancy.

    Science.gov (United States)

    Hilton-Kamm, Debra; Chang, Ruey-Kang; Sklansky, Mark

    2012-12-01

    An online survey for parents of children with congenital heart disease (CHD) was developed to study parents' experiences at the time of diagnosis. The survey was distributed to online support groups. A total of 841 responses from parents of children with CHD were received during a 4-week period. The current study examined those respondents (211 [25 %]) who reported their child's diagnosis as hypoplastic left heart syndrome (HLHS). Among these, 138 (65 %) reported receiving the diagnosis prenatally. 32 % of those receiving a prenatal diagnosis reported that after they declined to terminate the pregnancy, termination was mentioned again by their physicians. Parents who had termination mentioned again after their initial decline reported significantly lower optimism regarding their child's life expectancy than those who did not have it mentioned again (66 vs. 94 %, p survival" (34 vs. 13 %, p = 0.01); and were more likely to change pediatric cardiologists (PCs) (43 vs. 12 %, p parents, when termination of pregnancy was mentioned after the parents declined it, or if the parents felt pressure to terminate, the parents perceived a lower chance of survival, felt less optimistic about their child's life expectancy, and were more likely to choose another PC for long-term follow-up care. Our study could not determine whether repeated discussions of the possibility for termination of pregnancy independently impacts parental optimism regarding prognosis or whether those who counsel with repeated discussions of termination tend to have more guarded notions of the prognosis of children with HLHS. Further study is warranted to identify the implications of counseling patterns on parental perceptions and decisions regarding termination of pregnancy.

  17. Prevalence and prognosis of congestive heart failure in Saudi patients admitted with acute coronary syndrome (from SPACE registry).

    Science.gov (United States)

    Albackr, Hanan B; Alhabib, Khalid F; Ullah, Anhar; Alfaleh, Hussam; Hersi, Ahmad; Alshaer, Fayez; Alnemer, Khalid; Al Saif, Shukri; Taraben, Amir; Kashour, Tarek

    2013-11-01

    The aim of this study was to assess the prevalence, clinical features, and in-hospital outcomes of heart failure in patients with acute coronary syndrome (ACS). The Saudi Project for Assessment of Coronary Events recruited patients admitted with ACS from 17 hospitals in Saudi Arabia from 2005 to 2007. The outcomes of ACS patients with congestive heart failure (CHF) compared with those without CHF were analyzed. A total of 4523 patients with ACS were identified, of whom 905 (20%) had CHF. Compared with no CHF, patients with CHF were older (62±13.1 vs. 57±12.9 years; P=0.001), less likely to be men (70 vs. 79%; P=0.001), likely to present with non-ST-segment elevation myocardial infarction (48 vs. 36%; P=0.001), likely to have diabetes (71 vs. 54%; P=0.001), hypertension (64 vs. 54%; P=0.001) and previous history of coronary artery disease (53 vs. 43%; P=0.001), and likely to have significant left ventricular systolic dysfunction (left ventricular ejection fraction coronary intervention (19 vs. 50%; P=0.001). Adjusted in-hospital mortality and cardiogenic shock were higher in the CHF group (odds ratio 4.43, 95% confidence interval 2.52-7.78; and odds ratio 3.51, 95% confidence interval 2.23-5.52), respectively. ACS patients with CHF in the Saudi Project for Assessment of Coronary Events were older, more likely to have more cardiac risk factors, and less likely to be treated with optimum medical treatment on admission. These findings were associated with higher incidence of their in-hospital adverse outcomes. More aggressive treatment is warranted to improve prognosis.

  18. Heart rate variability measured early in patients with evolving acute coronary syndrome and 1-year outcomes of rehospitalization and mortality.

    Science.gov (United States)

    Harris, Patricia R E; Stein, Phyllis K; Fung, Gordon L; Drew, Barbara J

    2014-01-01

    This study sought to examine the prognostic value of heart rate variability (HRV) measurement initiated immediately after emergency department presentation for patients with acute coronary syndrome (ACS). Altered HRV has been associated with adverse outcomes in heart disease, but the value of HRV measured during the earliest phases of ACS related to risk of 1-year rehospitalization and death has not been established. Twenty-four-hour Holter recordings of 279 patients with ACS were initiated within 45 minutes of emergency department arrival; recordings with ≥18 hours of sinus rhythm were selected for HRV analysis (number [N] =193). Time domain, frequency domain, and nonlinear HRV were examined. Survival analysis was performed. During the 1-year follow-up, 94 patients were event-free, 82 were readmitted, and 17 died. HRV was altered in relation to outcomes. Predictors of rehospitalization included increased normalized high frequency power, decreased normalized low frequency power, and decreased low/high frequency ratio. Normalized high frequency >42 ms(2) predicted rehospitalization while controlling for clinical variables (hazard ratio [HR] =2.3; 95% confidence interval [CI] =1.4-3.8, P=0.001). Variables significantly associated with death included natural logs of total power and ultra low frequency power. A model with ultra low frequency power 0.3 ng/mL (HR =4.0; 95% CI =1.3-12.1; P=0.016) revealed that each contributed independently in predicting mortality. Nonlinear HRV variables were significant predictors of both outcomes. HRV measured close to the ACS onset may assist in risk stratification. HRV cut-points may provide additional, incremental prognostic information to established assessment guidelines, and may be worthy of additional study.

  19. 'Hearts and minds': association, causation and implication of cognitive impairment in heart failure.

    Science.gov (United States)

    Cannon, Jane A; McMurray, John Jv; Quinn, Terry J

    2015-01-01

    The clinical syndrome of heart failure is one of the leading causes of hospitalisation and mortality in older adults. An association between cognitive impairment and heart failure is well described but our understanding of the relationship between the two conditions remains limited. In this review we provide a synthesis of available evidence, focussing on epidemiology, the potential pathogenesis, and treatment implications of cognitive decline in heart failure. Most evidence available relates to heart failure with reduced ejection fraction and the syndromes of chronic cognitive decline or dementia. These conditions are only part of a complex heart failure-cognition paradigm. Associations between cognition and heart failure with preserved ejection fraction and between acute delirium and heart failure also seem evident and where data are available we will discuss these syndromes. Many questions remain unanswered regarding heart failure and cognition. Much of the observational evidence on the association is confounded by study design, comorbidity and insensitive cognitive assessment tools. If a causal link exists, there are several potential pathophysiological explanations. Plausible underlying mechanisms relating to cerebral hypoperfusion or occult cerebrovascular disease have been described and it seems likely that these may coexist and exert synergistic effects. Despite the prevalence of the two conditions, when cognitive impairment coexists with heart failure there is no specific guidance on treatment. Institution of evidence-based heart failure therapies that reduce mortality and hospitalisations seems intuitive and there is no signal that these interventions have an adverse effect on cognition. However, cognitive impairment will present a further barrier to the often complex medication self-management that is required in contemporary heart failure treatment.

  20. The relationship between heart rate and mortality of patients with acute coronary syndromes in the coronary intervention era: Meta-analysis.

    Science.gov (United States)

    Xu, Tan; Zhan, Youqin; Xiong, Jianping; Lu, Nan; He, Zhuoqiao; Su, Xi; Tan, Xuerui

    2016-11-01

    Most of acute coronary syndromes (ACS) were receiving intervention treatment a high overall rate of coronary angiography in the modern medical practice.Consequently, we conduct a review to determine the heart rate (HR) on the prognosis of ACS in the coronary intervention era. PubMed, EMBASE, MEDLINE, and the Cochrane Library was systematically searched up to May 2016 using the search terms "heart rate," "acute coronary syndrome," "acute myocardial infarction," "ST elevation myocardial infarction," "non-ST-segment elevation." The outcome of interest was all-cause mortality. All analyses were performed using Review Manager. Database searches retrieved 2324 citations. Eleven studies enrolling 156,374 patients were included. In-hospital mortality was significantly higher in the elevated HR group compared to the lower HR group (pooled RR 2.04, 95%CI 1.80-2.30, P coronary intervention era.

  1. Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome.

    Directory of Open Access Journals (Sweden)

    Christoph Kampmann

    Full Text Available Mucopolysaccharidosis (MPS IVA is a rare lysosomal storage disorder with multiple skeletal and non-skeletal abnormalities requiring multiple surgical interventions. It is well known that patients with MPS IVA suffer from tachycardia, but cardiac and hemodynamic alterations have not been reported to date. We investigated the cardiovascular and hemodynamic alterations in patients with MPS IVA and developed a possible patho-mechanism for cardiovascular deterioration during anesthesia.In this observational study, serial cardiac examinations were performed in 54 patients with MPS IVA who were followed at the Children's Hospital of the Mainz Medical University (Mainz, Germany between 1991 and 2014 (follow-up 1-24 years; median 5.8 years. Results were compared with data from a large central European cohort of more than 2000 healthy infants and children.None of the patients had arterial hypertension, but 4% had evidence of increased pulmonary artery pressure. Patients developed aortic root extension up to 6.9 standard deviations above normal. Left-sided valve leaflet thickening occurred in 26 patients (five with valve disease. Patients had lower left ventricular dimensions (z: -1.02±0.1, lower stroke volumes (z: -2.3±0.17, lower left ventricular mass (z: -1.5±0.21, but higher wall thickness (z: +0.8±0.16, and higher work index (z: +2.5±0.2 compared to healthy control subjects. Cardiac output was preserved by an increase in heart rate of 21%. Sixty % of patients showed impaired diastolic filling; heart rate (99.0±1.8 vs. 92.0±2.1 bpm, age (18.0±1.8 vs. 14.2±1 years, and cardiothoracic ratio (61.6±3.6% vs. 55±4.2% of these patients were higher compared to those with normal filling.The results of this study suggest an age-progressive disproportion of the intra-thoracic organs of patients with MPS IVA, which is accompanied by aortic root extension and thickened left ventricles, with reduced stroke volumes, impaired diastolic filling patterns, and

  2. Down's syndrome and inflammatory bowel disease: is there a real link?

    Directory of Open Access Journals (Sweden)

    Raquel Souto-Rodríguez

    Full Text Available Down's syndrome (DS is a genetic disease that has been associated with several immune and autoimmune diseases, including digestive and liver diseases, like celiac disease, autoimmune chronic hepatitis and sclerosing cholangitis. Despite in inflammatory bowel disease (IBD pathogenesis, genetics and immune mechanism play an important role, the association among DS and IBD has been poorly studied. Data about IBD diagnosis in DS patients is very scarce with only some individual case-reports. We report three cases of DS patients diagnosed of IBD and we discuss the possible association of these two entities.

  3. The Link between Hypersensitivity Syndrome Reaction Development and Human Herpes Virus-6 Reactivation

    Directory of Open Access Journals (Sweden)

    Joshua C. Pritchett

    2012-01-01

    Data Sources and Extraction. Drugs identified as causes of (i idiosyncratic reactions, (ii drug-induced hypersensitivity, drug-induced hepatotoxicity, acute liver failure, and Stevens-Johnson syndrome, and (iii human herpes virus reactivation in PubMed since 1997 have been collected and discussed. Results. Data presented in this paper show that HHV-6 reactivation is associated with more severe organ involvement and a prolonged course of disease. Conclusion. This analysis of HHV-6 reactivation associated with drug-induced severe cutaneous reactions and hepatotoxicity will aid in causality assessment and clinical diagnosis of possible life-threatening events and will provide a basis for further patient characterization and therapy.

  4. Heart rate variability measured early in patients with evolving acute coronary syndrome and 1-year outcomes of rehospitalization and mortality

    Directory of Open Access Journals (Sweden)

    Harris PR

    2014-08-01

    Full Text Available Patricia R E Harris,1 Phyllis K Stein,2 Gordon L Fung,3 Barbara J Drew4 1Electrocardiographic Monitoring Research Laboratory, School of Nursing, Department of Physiological Nursing, University of California, San Francisco, CA, USA; 2Heart Rate Variability Laboratory, School of Medicine, Division of Cardiology, Washington University, St Louis, MO, USA; 3Cardiology Services, Mount Zion, Department of Medicine, Division of Cardiology, University of California, San Francisco, CA, USA; 4School of Nursing, Department of Physiological Nursing, Division of Cardiology, University of California, San Francisco, CA, USA Objective: This study sought to examine the prognostic value of heart rate variability (HRV measurement initiated immediately after emergency department presentation for patients with acute coronary syndrome (ACS. Background: Altered HRV has been associated with adverse outcomes in heart disease, but the value of HRV measured during the earliest phases of ACS related to risk of 1-year rehospitalization and death has not been established. Methods: Twenty-four-hour Holter recordings of 279 patients with ACS were initiated within 45 minutes of emergency department arrival; recordings with ≥18 hours of sinus rhythm were selected for HRV analysis (number [N] =193. Time domain, frequency domain, and nonlinear HRV were examined. Survival analysis was performed. Results: During the 1-year follow-up, 94 patients were event-free, 82 were readmitted, and 17 died. HRV was altered in relation to outcomes. Predictors of rehospitalization included increased normalized high frequency power, decreased normalized low frequency power, and decreased low/high frequency ratio. Normalized high frequency >42 ms2 predicted rehospitalization while controlling for clinical variables (hazard ratio [HR] =2.3; 95% confidence interval [CI] =1.4–3.8, P=0.001. Variables significantly associated with death included natural logs of total power and ultra low frequency

  5. Possible Link between Metabolic Syndrome and Chronic Kidney Disease in the Development of Cardiovascular Disease

    Directory of Open Access Journals (Sweden)

    Kosaku Nitta

    2011-01-01

    Full Text Available Metabolic syndrome (MetS is a clinical syndrome that consists of visceral obesity, dyslipidemia, hypertension, and impaired insulin sensitivity. Although individual components of MetS have been implicated in the development of chronic kidney disease (CKD, few studies have examined the effect of combinations of the components of MetS on the development of CKD and cardiovascular disease (CVD. The prevalence of MetS is increasing worldwide in both developing and developed countries, and early detection and treatment of MetS would be a cost-effective strategy for preventing the development of CKD. Visceral obesity and insulin resistance are two important features of MetS that may be associated with renal damage. Lifestyle modifications, including caloric restriction and exercise, are necessary to treat MetS. Initial antihypertensive therapy should consist of an angiotensin-converting enzyme inhibitor or angiotensin receptor blocker. An improved understanding of the mechanism responsible for the association between MetS and renal damage should be helpful in determining the treatment regimens directed at cardiovascular and renal protection.

  6. Molecular role of dopamine in anhedonia linked to reward deficiency syndrome (RDS) and anti- reward systems.

    Science.gov (United States)

    Gold, Mark S; Blum, Kenneth; Febo, Marcelo; Baron, David; Modestino, Edward Justin; Elman, Igor; Badgaiyan, Rajendra D

    2018-03-01

    Anhedonia is a condition that leads to the loss of feelings pleasure in response to natural reinforcers like food, sex, exercise, and social activities. This disorder occurs in addiction, and an array of related neuropsychiatric syndromes, including schizophrenia, depression, and Post Traumatic Stress Disorder (PTSD). Anhedonia may by due to derangements in mesolimbic dopaminergic pathways and their terminal fields (e.g., striatum, amygdala, and prefrontal cortex) that persist long after the traces of the causative drugs are eliminated (pharmacokinetically). Here we postulate that anhedonia is not a distinct entity but is rather an epiphenomenon of hypodopaminergic states and traits arising from the interaction of genetic traits and epigenetic neurobiological alterations in response to environmental influences. Moreover, dopaminergic activity is rather complex, and so it may give rise to differential pathophysiological processes such as incentive sensitization, aberrant learning and stress-like "anti-reward" phenomena. These processes may have additive, synergistic or antagonistic interactions with the concurrent reward deficiency states leading in some instances to more severe and long-lasting symptoms. Operant understanding of the neurogenetic antecedents to reward deficiency syndrome (RDS) and the elucidation of reward gene polymorphisms may provide a map for accessing an individual's genetic risk for developing Anhedonia. Prevention techniques that can restore homeostatic balance via physiological activation of dopaminergic receptors (D2/D3) may be instrumental for targeting not only anhedonia per se but also drug craving and relapse.

  7. Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder.

    Science.gov (United States)

    Evans, K L; Lawson, D; Meitinger, T; Blackwood, D H; Porteous, D J

    2000-04-03

    Bipolar affective disorder (BPAD) is a complex disease with a significant genetic component. Heterozygous carriers of Wolfram syndrome (WFS) are at increased risk of psychiatric illness. A gene for WFS (WFS1) has recently been cloned and mapped to chromosome 4p, in the general region we previously reported as showing linkage to BPAD. Here we present sequence analysis of the WFS1 coding sequence in five affected individuals from two chromosome 4p-linked families. This resulted in the identification of six polymorphisms, two of which are predicted to change the amino acid sequence of the WFS1 protein, however none of the changes segregated with disease status. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:158-160, 2000. Copyright 2000 Wiley-Liss, Inc.

  8. Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations.

    Science.gov (United States)

    Ponti, G; Ponz de Leon, M; Maffei, S; Pedroni, M; Losi, L; Di Gregorio, C; Gismondi, V; Scarselli, A; Benatti, P; Roncari, B; Seidenari, S; Pellacani, G; Varotti, C; Prete, E; Varesco, L; Roncucci, L

    2005-11-01

    Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations.Peculiar dermatologic manifestations are present in several heritable gastrointestinal disorders. Muir-Torre syndrome (MTS) is a genodermatosis whose peculiar feature is the presence of sebaceous gland tumors associated with visceral malignancies. We describe one patient in whom multiple sebaceous gland tumors were associated with early onset colon and thyroid cancers and attenuated polyposis coli. Her family history was positive for colonic adenomas. She had a daughter presenting with yellow papules in the forehead region developed in the late infancy. Skin and visceral neoplasms were tested for microsatellite instability and immunohistochemical status of mismatch repair (MMR), APC and MYH proteins. The proband colon and skin tumors were microsatellite stable and showed normal expression of MMR proteins. Cytoplasmic expression of MYH protein was revealed in colonic cancer cells. Compound heterozygosity due to biallelic mutations in MYH, R168H and 379delC, was identified in the proband. The 11-year-old daughter was carrier of the monoallelic constitutional mutation 379delC in the MYH gene; in the sister, the R168H MYH gene mutation was detected. This report presents an interesting case of association between MYH-associated polyposis and sebaceous gland tumors. These findings suggest that patients with MTS phenotype that include colonic polyposis should be screened for MYH gene mutations.

  9. Nationwide trends in use and timeliness of diagnostic coronary angiography in acute coronary syndromes from 2005 to 2011: Does distance to invasive heart centres matter?

    Science.gov (United States)

    Hansen, Kim W; Sørensen, Rikke; Madsen, Mette; Madsen, Jan K; Jensen, Jan S; von Kappelgaard, Lene M; Mortensen, Poul E; Galatius, Søren

    2015-08-01

    To examine trends in the use of diagnostic coronary angiography according to distance from home to the nearest invasive heart centre following implementation of fast-track protocols and extensive pre-hospital triaging of acute coronary syndrome patients. We performed a register-based cohort study of all patients admitted to Danish hospitals with incident acute coronary syndrome in 2005-2011. Diagnostic coronary angiography within 60 days of admission was investigated according to distance tertiles (DTs) calculated as range from each patient's home to the nearest invasive heart centre (short DT: 65 km). Cox proportional hazards models were applied.Among the 52,409 patients included, diagnostic coronary angiography was increasingly used during 2005-2011 (short DT: 76% to 81%; medium DT: 74% to 81%; long DT: 69% to 78%; all p-values for trend coronary angiography, and 60-day mortality decreased in all DT. This nationwide study found significant increases in diagnostic coronary angiography use over time in incident acute coronary syndrome patients with a relatively larger increase in patients residing farthest from an invasive heart centre. Additionally, selected quality of care measures improved in the entire cohort, suggesting a benefit of national clinical protocols. © The European Society of Cardiology 2014.

  10. Fluid status monitoring with a wireless network to reduce cardiovascular-related hospitalizations and mortality in heart failure: rationale and design of the OptiLink HF Study (Optimization of Heart Failure Management using OptiVol Fluid Status Monitoring and CareLink)

    Science.gov (United States)

    Brachmann, Johannes; Böhm, Michael; Rybak, Karin; Klein, Gunnar; Butter, Christian; Klemm, Hanno; Schomburg, Rolf; Siebermair, Johannes; Israel, Carsten; Sinha, Anil-Martin; Drexler, Helmut

    2011-01-01

    Aims The Optimization of Heart Failure Management using OptiVol Fluid Status Monitoring and CareLink (OptiLink HF) study is designed to investigate whether OptiVol fluid status monitoring with an automatically generated wireless CareAlert notification via the CareLink Network can reduce all-cause death and cardiovascular hospitalizations in an HF population, compared with standard clinical assessment. Methods Patients with newly implanted or replacement cardioverter-defibrillator devices with or without cardiac resynchronization therapy, who have chronic HF in New York Heart Association class II or III and a left ventricular ejection fraction ≤35% will be eligible to participate. Following device implantation, patients are randomized to either OptiVol fluid status monitoring through CareAlert notification or regular care (OptiLink ‘on' vs. ‘off'). The primary endpoint is a composite of all-cause death or cardiovascular hospitalization. It is estimated that 1000 patients will be required to demonstrate superiority of the intervention group to reduce the primary outcome by 30% with 80% power. Conclusion The OptiLink HF study is designed to investigate whether early detection of congestion reduces mortality and cardiovascular hospitalization in patients with chronic HF. The study is expected to close recruitment in September 2012 and to report first results in May 2014. ClinicalTrials.gov Identifier: NCT00769457 PMID:21555324

  11. Saturated Fat Intake Is Related to Heart Rate Variability in Women with Polycystic Ovary Syndrome.

    Science.gov (United States)

    Graff, Scheila K; Mario, Fernanda M; Magalhães, Jose A; Moraes, Ruy S; Spritzer, Poli Mara

    2017-01-01

    There is a heightened risk for cardiovascular diseases in women with polycystic ovary syndrome (PCOS). Alterations in heart rate variability (HRV) may reflect subclinical cardiovascular disease, with a putative association between HRV and dietary fat. This study evaluated HRV in PCOS and control women based on the dietary intake of saturated fatty acid (SFA). Biochemical/hormonal profile, resting metabolic rate, physical activity, HRV in response to the Stroop test, and dietary intake were assessed in 84 PCOS and 54 control women stratified by median SFA intake in the PCOS group (8.5% of daily energy intake). Body mass index (p = 0.041), blood pressure (p PCOS vs. PCOS women had higher testosterone (p = 0.001), dehydroepiandrosterone sulfate (p = 0.012), and free androgen index (p = 0.001), and lower sex hormone-binding globulin levels than controls (p = 0.001). In both groups, the clinical profile and calorie intake were similar between SFA categories. In PCOS, testosterone was lower when SFA intake PCOS women with SFA PCOS, age and SFA intake were independent predictors of HRV. Lower SFA intake is related to improved cardiovascular autonomic function in PCOS. © 2017 S. Karger AG, Basel.

  12. A systematic method for using 3D echocardiography to evaluate tricuspid valve insufficiency in hypoplastic left heart syndrome.

    Science.gov (United States)

    Mart, Christopher Robin; Eckhauser, Aaron Wesley; Murri, Michael; Su, Jason Thomas

    2014-09-01

    With surgical palliation of hypoplastic left heart syndrome (HLHS), the tricuspid valve (TV) becomes the systemic atrioventricular valve and moderate/severe TV insufficiency (TVI), an adverse risk factor for survival to Fontan, has been reported in up to 35% of patients prior to stage I palliation. Precise echocardiographic identification of the mechanism of TVI cannot be determined by two-dimensional echocardiography. Three-dimensional echocardiography (3DE) can provide significant insight into the mechanisms of TVI. It is the intent of this report to propose a systematic method on how to evaluate and display 3DE images of the TV in HLHS which has not been done previously. TV anatomy, function, and the known mechanisms of insufficiency are reviewed. We defined three regions of the TV (anterior, posterior, septal) that can help define valve "leaflets" that incorporates the many variations of TV anatomy. To determine how the surgeon views the TV, a picture of a pathologic specimen of the TV was placed on a computer screen and rotated until it was oriented as it appears during surgery, the "surgeons view." We have proposed a systematic method for evaluating and displaying the TV using 3DE which can provide significant insight into the mechanisms causing TVI in HLHS. This has the potential to improve both the surgical approach to repairing the valve and, ultimately, patient outcomes.

  13. Influence of race/ethnicity on cardiovascular risk factors in polycystic ovary syndrome, the Dallas Heart Study.

    Science.gov (United States)

    Chang, Alice Y; Oshiro, June; Ayers, Colby; Auchus, Richard J

    2016-07-01

    Polycystic ovarian syndrome (PCOS) is estimated to affect up to 20% of women. PCOS is associated with insulin resistance and cardiovascular (CV) risk factors. We aimed to evaluate the impact of race/ethnicity on the prevalence of CV risk factors and subclinical predictors of CV events. Cross-sectional analysis of data collected by the Dallas Heart Study, an urban, population-based cohort oversampled for blacks. A previously described cohort of women with PCOS and control subjects of the same racial/ethnic group, matched for age and body mass index. Hormonal and clinical measures associated with PCOS and CV risk factors. The study included 117 women with PCOS and 204 controls. Women with PCOS had significant differences across racial/ethnic groups in the prevalence of hypertension, hypercholesterolaemia, hypertriglyceridaemia and impaired fasting glucose (P PCOS than controls after adjusting for race/ethnicity (odds ratio, 1·50 [95% CI, 1·03-2·30]; P = 0·04). However, we did not see an interaction of race/ethnicity that significantly changed CV risk factor prevalence between PCOS and controls. In addition, subclinical measures of CV disease were not different between women with PCOS vs controls, even among hypertensive women. Race/ethnicity affects the prevalence of CV risk factors for women with and without PCOS. However, race/ethnicity does not interact with PCOS to additionally increase CV risk factor prevalence or subclinical CV disease. © 2015 John Wiley & Sons Ltd.

  14. Coronary heart disease risk factors in adult premenopausal white women with polycystic ovary syndrome compared with a healthy female population.

    Science.gov (United States)

    Glueck, Charles J; Morrison, John A; Goldenberg, Naila; Wang, Ping

    2009-05-01

    Our specific aim was to determine whether coronary heart disease (CHD) risk factors in polycystic ovary syndrome (PCOS) patients were independent of their higher body mass index (BMI) and centripetal obesity. In adult, premenopausal, white women, CHD risk factors were compared between 488 patients with well-defined PCOS and 351 healthy free-living population controls from the Princeton Follow-up Study (PFS). After excluding women with irregular menses (putative PCOS phenotypes), comparisons were also made between the 261 PFS women with a history of regular menses and the 488 women with PCOS. Fasting lipids, insulin, glucose, homeostasis model assessment of insulin resistance (HOMA-IR), HOMA insulin secretion, blood pressure, BMI, and waist circumference were measured. Compared with both the full cohort of 351 PFS women and the subgroup of 261 PFS women with regular menses, women with PCOS had higher BMI, waist circumference, total and low-density lipoprotein cholesterol, triglyceride, systolic blood pressure, diastolic blood pressure, insulin, glucose, and HOMA-IR (all Ps PCOS, compared with the 351 and 261 PFS women, had lower high-density lipoprotein cholesterol (P PCOS women with normal BMI (PCOS cannot be exclusively attributed to their preponderant centripetal obesity. Identification of women with clinical features of PCOS should alert the clinician to potentially increased risk for CHD and prompt CHD risk factor testing.

  15. A clinical perspective of the link between metabolic syndrome and hepatocellular carcinoma

    Directory of Open Access Journals (Sweden)

    Cauchy F

    2015-02-01

    Full Text Available François Cauchy, Jacques BelghitiHPB and Liver Transplantation Unit, Hôpital Beaujon, Assistance Publique-Hôpitaux de Paris, Clichy, FranceAbstract: Metabolic syndrome (MS, which is defined as a constellation of clinico-biological features closely related to insulin-resistance has reached epidemic levels in Western Europe and Northern America. Non-alcoholic fatty liver disease (NAFLD represents the hepatic manifestation of MS. As its incidence parallels that of MS, NAFLD is currently becoming one of the most frequent chronic liver diseases in Western countries. On one hand, MS favors the development of hepatocellular carcinoma (HCC either through NAFLD liver parenchymal alterations (steatosis; steatohepatitis; fibrosis, or in the absence of significant underlying liver parenchyma changes. In this setting, HCC are often diagnosed incidentally, tend to be larger than in patients developing HCC on cirrhosis and therefore frequently require major liver resections. On the other hand, MS patients are at increased risk of both liver-related postoperative complications and increased cardiorespiratory events leading to non-negligible mortality rates following liver surgery. These deleterious effects seem to be related to the existence of impaired liver function even in the absence of severe fibrosis but also higher cardiorespiratory sensitivity in a setting of MS/NAFLD. Hence, specific medical and surgical improvements in the perioperative management of these patients are required. These include complete preoperative cardiorespiratory work-up and the wide use of preoperative liver volume modulation. Finally, the long-term prognosis after curative surgery for MS-related HCC does not seem to be worse than for other HCC occurring on classical chronic liver diseases. This is probably related to less aggressive tumor behavior with lower micro vascular invasion and decreased rates of poorly differentiated lesions. In this setting, several medical therapies

  16. Broken heart syndrome triggered by an obstructive goiter not associated with thyrotoxicosis.

    Science.gov (United States)

    Hatzakorzian, Roupen; Bui, Helen; Schricker, Thomas; Backman, Steven B

    2013-08-01

    Takotsubo cardiomyopathy (TC) is described as transient ventricular dysfunction following emotional or physical trauma. A few reports have described patients with TC in association with various circumstances of thyrotoxicosis. We report an unusual case of TC in a patient with a large retrosternal goiter and normal thyroid function. We speculate that TC was triggered by compromise of tracheal flow induced by the goiter. A 68-yr-old woman without primary heart disease presented with cardiorespiratory collapse requiring ventilatory and cardiovascular support, including placement of an intra-aortic balloon pump. She was diagnosed with a severe form of TC based on characteristic echocardiography findings and clinical course. Within less than a week, her myocardial function completely normalized. The patient was later found to have a large retrosternal goiter compressing her trachea, though her thyroid function was normal. A total thyroidectomy was eventually performed, and she made a full recovery. Subsequently, the patient was found to have a positive JAK2 mutation for a myeloproliferative disorder. Takotsubo cardiomyopathy may be regarded as the final common pathway of cardiac dysfunction triggered by various stress conditions, in this case, a large retrosternal goiter not associated with thyrotoxicosis and likely exacerbated by severe leukocytosis related to a myeloproliferative disorder.

  17. Is reporting on interventions a weak link in understanding how and why they work? A preliminary exploration using community heart health exemplars

    Directory of Open Access Journals (Sweden)

    Kurtz Donna

    2008-05-01

    Full Text Available Abstract Background The persistent gap between research and practice compromises the impact of multi-level and multi-strategy community health interventions. Part of the problem is a limited understanding of how and why interventions produce change in population health outcomes. Systematic investigation of these intervention processes across studies requires sufficient reporting about interventions. Guided by a set of best processes related to the design, implementation, and evaluation of community health interventions, this article presents preliminary findings of intervention reporting in the published literature using community heart health exemplars as case examples. Methods The process to assess intervention reporting involved three steps: selection of a sample of community health intervention studies and their publications; development of a data extraction tool; and data extraction from the publications. Publications from three well-resourced community heart health exemplars were included in the study: the North Karelia Project, the Minnesota Heart Health Program, and Heartbeat Wales. Results Results are organized according to six themes that reflect best intervention processes: integrating theory, creating synergy, achieving adequate implementation, creating enabling structures and conditions, modifying interventions during implementation, and facilitating sustainability. In the publications for the three heart health programs, reporting on the intervention processes was variable across studies and across processes. Conclusion Study findings suggest that limited reporting on intervention processes is a weak link in research on multiple intervention programs in community health. While it would be premature to generalize these results to other programs, important next steps will be to develop a standard tool to guide systematic reporting of multiple intervention programs, and to explore reasons for limited reporting on intervention

  18. Is reporting on interventions a weak link in understanding how and why they work? A preliminary exploration using community heart health exemplars.

    Science.gov (United States)

    Riley, Barbara L; MacDonald, JoAnne; Mansi, Omaima; Kothari, Anita; Kurtz, Donna; vonTettenborn, Linda I; Edwards, Nancy C

    2008-05-20

    The persistent gap between research and practice compromises the impact of multi-level and multi-strategy community health interventions. Part of the problem is a limited understanding of how and why interventions produce change in population health outcomes. Systematic investigation of these intervention processes across studies requires sufficient reporting about interventions. Guided by a set of best processes related to the design, implementation, and evaluation of community health interventions, this article presents preliminary findings of intervention reporting in the published literature using community heart health exemplars as case examples. The process to assess intervention reporting involved three steps: selection of a sample of community health intervention studies and their publications; development of a data extraction tool; and data extraction from the publications. Publications from three well-resourced community heart health exemplars were included in the study: the North Karelia Project, the Minnesota Heart Health Program, and Heartbeat Wales. Results are organized according to six themes that reflect best intervention processes: integrating theory, creating synergy, achieving adequate implementation, creating enabling structures and conditions, modifying interventions during implementation, and facilitating sustainability. In the publications for the three heart health programs, reporting on the intervention processes was variable across studies and across processes. Study findings suggest that limited reporting on intervention processes is a weak link in research on multiple intervention programs in community health. While it would be premature to generalize these results to other programs, important next steps will be to develop a standard tool to guide systematic reporting of multiple intervention programs, and to explore reasons for limited reporting on intervention processes. It is our contention that a shift to more inclusive reporting of

  19. Diagnostic Challenge of Hepatopulmonary Syndrome in a Patient with Coexisting Structural Heart Disease

    Directory of Open Access Journals (Sweden)

    Jorge M. Hurtado-Cordovi

    2011-01-01

    Full Text Available Hepatopulmonary syndrome (HPS is a severe complication seen in advance liver disease. Its prevalence among cirrhotic patients varies from 4–47 percent. HPS exact pathogenesis remains unknown. Patient presents with signs/symptoms of chronic liver disease, and dypsnea of variable severity. Our patient is a 62 years old white male with a known history of chronic hepatitis C, cirrhosis, ascites, and hypothyroidism who presented to GI/liver clinic complaining of 1 episode BRBPR, and exacerbating dypsnea associated with nausea and few episodes of non-bloody vomit. Physical exam showed, icterus, jaundice, few small spider angiomas on the chest, decrease breath sounds bilateral right more than left, and mild tachycardic. Abdominal exam revealed mid-line scar, moderated size ventral hernia, distention, diffused tenderness, and dullness to percussion. Laboratory result: CBC 5.2/13.2/37.6/83, LFTs 83/217/125/5.2/4.7/7.4, Pt 22.6 INR 1.9 PTT35.4. CT scan showed liver cirrhosis, abdominal varices, and moderated ascites collection around ventral hernia. Calculated A-a gradient was 49.5. Echocardiography revealed patent foramen ovale (PFO with predominant left to right shunt. In our case, existence of paten foramen ovale (PFO and atelectasis precludes definitive diagnosis of HPS. Presence of cardiopulmonary shunt could be partially responsible for the patient’s dypsnea exacerbation.

  20. Heart rate variability analysed by Poincaré plot in patients with metabolic syndrome.

    Science.gov (United States)

    Kubičková, Alena; Kozumplík, Jiří; Nováková, Zuzana; Plachý, Martin; Jurák, Pavel; Lipoldová, Jolana

    2016-01-01

    The SD1 and SD2 indexes (standard deviations in two orthogonal directions of the Poincaré plot) carry similar information to the spectral density power of the high and low frequency bands but have the advantage of easier calculation and lesser stationarity dependence. ECG signals from metabolic syndrome (MetS) and control group patients during tilt table test under controlled breathing (20 breaths/minute) were obtained. SD1, SD2, SDRR (standard deviation of RR intervals) and RMSSD (root mean square of successive differences of RR intervals) were evaluated for 31 control group and 33 MetS subjects. Statistically significant lower values were observed in MetS patients in supine position (SD1: p=0.03, SD2: p=0.002, SDRR: p=0.006, RMSSD: p=0.01) and during tilt (SD2: p=0.004, SDRR: p=0.007). SD1 and SD2 combining the advantages of time and frequency domain methods, distinguish successfully between MetS and control subjects. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Visualizing Mutation-Specific Differences in the Trafficking-Deficient Phenotype of Kv11.1 Proteins Linked to Long QT Syndrome Type 2.

    Science.gov (United States)

    Hall, Allison R; Anderson, Corey L; Smith, Jennifer L; Mirshahi, Tooraj; Elayi, Claude S; January, Craig T; Delisle, Brian P

    2018-01-01

    KCNH2 encodes the Kv11.1 α-subunit that underlies the rapidly activating delayed-rectifier K + current in the heart. Loss-of-function KCNH2 mutations cause long QT syndrome type 2 (LQT2), and most LQT2-linked missense mutations inhibit the trafficking of Kv11.1 channel protein to the cell surface membrane. Several trafficking-deficient LQT2 mutations (e.g., G601S) generate Kv11.1 proteins that are sequestered in a microtubule-dependent quality control (QC) compartment in the transitional endoplasmic reticulum (ER). We tested the hypothesis that the QC mechanisms that regulate LQT2-linked Kv11.1 protein trafficking are mutation-specific. Confocal imaging analyses of HEK293 cells stably expressing the trafficking-deficient LQT2 mutation F805C showed that, unlike G601S-Kv11.1 protein, F805C-Kv11.1 protein was concentrated in several transitional ER subcompartments. The microtubule depolymerizing drug nocodazole differentially affected G601S- and F805C-Kv11.1 protein immunostaining. Nocodazole caused G601S-Kv11.1 protein to distribute into peripheral reticular structures, and it increased the diffuse immunostaining of F805C-Kv11.1 protein around the transitional ER subcompartments. Proteasome inhibition also affected the immunostaining of G601S- and F805C-Kv11.1 protein differently. Incubating cells in MG132 minimally impacted G601S-Kv11.1 immunostaining, but it dramatically increased the diffuse immunostaining of F805C-Kv11.1 protein in the transitional ER. Similar results were seen after incubating cells in the proteasome inhibitor lactacystin. Differences in the cellular distribution of G601S-Kv11.1 and F805C-Kv11.1 protein persisted in transfected human inducible pluripotent stem cell derived cardiomyocytes. These are the first data to visually demonstrate mutation-specific differences in the trafficking-deficient LQT2 phenotype, and this study has identified a novel way to categorize trafficking-deficient LQT2 mutations based on differences in intracellular

  2. Corneal cross-linking in a child with osteogenesis imperfecta syndrome and keratoconus

    Directory of Open Access Journals (Sweden)

    Sergio Kwitko

    2017-07-01

    Full Text Available Cross-linking (CXL is a well-established procedure in children with keratoconus (KC, but cases of CXL and osteogenesis imperfecta (OI have not been published in the literature, despite the association between physiopathology of these diseases. This is the first case, to the best of our knowledge, of a young girl with both OI and KC that underwent a CXL treatment. In this case, CXL was performed at 6-years-old prior to an expected progression, without complications and probably stopped further keratoconus progression.

  3. Physical Fitness and Metabolic Syndrome in Children with Repaired Congenital Heart Disease Compared with Healthy Children.

    Science.gov (United States)

    Zaqout, Mahmoud; Vandekerckhove, Kristof; Michels, Nathalie; Bove, Thierry; François, Katrien; De Wolf, Daniel

    2017-12-01

    To determine whether children who underwent surgery for congenital heart disease (CHD) are as fit as their peers. We studied 66 children (6-14 years) who underwent surgery for ventricular septal defect (n = 19), coarctation of aorta (n = 10), tetralogy of Fallot (n = 15), and transposition of great arteries (n = 22); and 520 healthy children (6-12 years). All children performed physical fitness tests: cardiorespiratory fitness, muscular strength, balance, flexibility, and speed. Metabolic score was assessed through z-score standardization using 4 components: waist circumference, blood pressure, blood lipids, and insulin resistance. Assessment also included self-reported and accelerometer-measured physical activity. Linear regression analyses with group (CHD vs control) as a predictor were adjusted for age, body mass index, physical activity, and parental education. Measured physical activity level, body mass index, cardiorespiratory fitness, flexibility, and total metabolic score did not differ between children with CHD and controls, whereas reported physical activity was greater in the CHD group than control group. Boys with CHD were less strong in upper muscular strength, speed, and balance, whereas girls with CHD were better in lower muscular strength and worse in balance. High-density lipoprotein was greater in boys and girls with CHD, whereas boys with CHD showed unhealthier glucose homeostasis. Appropriate physical fitness was achieved in children after surgery for CHD, especially in girls. Consequently, children with CHD were not at increased total metabolic risk. Lifestyle counseling should be part of every patient interaction. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Evaluation of heart rate reserve and high-sensitivity C-reactive protein in individuals with and without metabolic syndrome in Isfahan, Iran

    Directory of Open Access Journals (Sweden)

    Yosef Khaledi

    2012-06-01

    Full Text Available    BACKGROUND: Lack of heart rate increase proportionate to exercise causes poor prognosis. Moreover, inflammatory factors such as C-reactive protein (CRP are associated with atherosclerosis. The current study compared these two indices in individuals with and without metabolic syndrome in Isfahan, Iran.    METHODS: This study was performed on 203 people without and 123 patients with metabolic syndrome who were randomly selected from the participants of the Isfahan Cohort Study. The demographic data, waist circumference, blood pressure, height, and weight of the participants were recorded. Moreover, serum triglyceride (TG, fasting blood sugar (FBS, total cholesterol, high density lipoprotein (HDL, low density lipoprotein (LDL, and high-sensitivity CRP (hs-CRP levels were measured. Exercise test was carried out according to the Bruce standard protocol and heart rate reserve (HRR was determined and recorded. The age-adjusted data was analyzed using generalized linear regression and student's t-test in SPSS15.    RESULTS: The mean ages of participants without and with metabolic syndrome were 54.16 ± 8.61 and 54.29 ± 7.6 years, respectively. The corresponding values for mean LDL levels were 116.17 ± 24.04 and 120.12 ± 29.55 mg/dl. TG levels were 140.38 ± 61.65 and 259.99 ± 184.49 mg/dl for subjects without and with the metabolic syndrome, respectively. The mean FBS levels were 81.81 ± 9.90 mg/dl in the participants without the syndrome and 107.13 ± 48.46 mg/dl in those with metabolic syndrome. The mean systolic blood pressure was 116.06 ± 13.69 mmHg in persons without metabolic syndrome and 130.73 ± 15.15 mmHg in patients with the syndrome. The values for mean diastolic levels in the two groups were 76.52 ± 6.69 and 82.84 ± 8.7 mmHg, respectively. While the two groups were not significantly different in terms of HRR (P = 0.27, hs-CRP levels in the metabolic syndrome group was significantly higher than the other group (P = 0.02.

  5. Relationship of hypovitaminosis d and insulin resistance in patients with coronary heart disease and metabolic syndrome

    Directory of Open Access Journals (Sweden)

    V. F. Orlovsky

    2013-08-01

    Full Text Available BACKGROUND: Insulin resistance (IR - is one of the predictors of cardiovascular disease and progression of atherosclerosis, regardless of major classical risk factors. IR has become a global epidemic. Experimental data indicate that low concentration of vitamin D associated with IR, diabetes mellitus type 2, by reducing the sensitivity of peripheral tissues to insulin and dysfunction of β-pancreatic cells. Randomized studies showed that vitamin D supplements have a preventive role in the development of type 2 diabetes mellitus (DM. The present study aims to examine the association between serum vitamin D concentrations and indicators of carbohydrate metabolism, indexes of insulin resistance and insulin sensitivity in the patients with coronary artery disease. METHODS: This study included 135 patients with CHD stable angina pectoris class II – III. The mean age was 64,7±0,97 years, 40% were women (n = 54. Patients were divided into two groups: I – with isolated CHD (70 patients and II - CHD combined with MS (65 patients. MS was diagnosed according to the criteria of the International Diabetes Federation (IDF, 2005. The study did not include patients who received vitamin D2, D3 and multivitamins containing these vitamins for last 6 months, patients with malabsorption fat syndrome, acute and chronic liver disease, chronic renal failure, nephrotic syndrome, urolithiasis, and primary hyperparathyroidism. Also excluded from the study were patients with DM type 1 and type 2 taking glucose-lowering drugs. Serum 25(OHD and insulin were measured by enzyme immunoassay (25-OH Vitamin D Immunodiagnostics Systems Limited (UK; DRG (USA. RESULT: Vitamin D deficiency or insufficiency was present in 91,9 % of the tested patients. Among subnormal values prevailed insufficiency in 51,9 % (70 pers., deficit diagnosed in 40.0% of patients (54 pers.. Established that patients with CHD associated with MS have a significantly more pronounced hypovitaminosis D

  6. Optimal right heart filling pressure in acute respiratory distress syndrome determined by strain echocardiography.

    Science.gov (United States)

    Garcia-Montilla, Romel; Imam, Faryal; Miao, Mi; Stinson, Kathryn; Khan, Akram; Heitner, Stephen

    2017-06-01

    Right ventricular (RV) systolic dysfunction is common in acute respiratory distress syndrome (ARDS). While preload optimization is crucial in its management, dynamic fluid responsiveness indices lack reliability, and there is no consensus on target central venous pressure (CVP). We analyzed the utility of RV free wall longitudinal strain (RVFWS) in the estimation of optimal RV filling pressure in ARDS. A retrospective cross-sectional analysis of clinical data and echocardiograms of patients with ARDS was performed. Tricuspid annular plane systolic excursion (TAPSE), tricuspid peak systolic velocity (S'), RV fractional area change (RVFAC), RVFWS, CVP, systolic pulmonary artery pressure (SPAP), and left ventricular ejection fraction (LVEF) were measured. Fifty-one patients with moderate-severe ARDS were included. There were inverse correlations between CVP and TAPSE, S', RVFAC, RVFWS, and LVEF. The most significant was with RVFWS (r:.74, R 2 :.55, P:.00001). Direct correlations with creatinine and lactate were noted. Receiver operating characteristic analysis showed that RVFWS -21% (normal reference value) was associated with CVP: 13 mm Hg (AUC: 0.92, 95% CI: 0.83-1.00). Regression model analysis of CVP, and RVFWS interactions established an RVFWS range from -18% to -24%. RVFWS -24% corresponded to CVP: 11 mm Hg and RVFWS -18% to CVP: 15 mm Hg. Beyond a CVP of 15 mm Hg, biventricular systolic dysfunction rapidly ensues. Our data are the first to show that an RV filling pressure of 13±2 mm Hg-as by CVP-correlates with optimal RV mechanics as evaluated by strain echocardiography in patients with moderate-severe ARDS. © 2017, Wiley Periodicals, Inc.

  7. Is there any link between joint hypermobility and mitral valve prolapse in patients with fibromyalgia syndrome?

    Science.gov (United States)

    Kozanoglu, Erkan; Coskun Benlidayi, Ilke; Eker Akilli, Rabia; Tasal, Abdurrahman

    2016-04-01

    The objective of the present study is to determine whether benign joint hypermobility syndrome (BJHS) modifies the risk of mitral valve prolapse (MVP) in patients with fibromyalgia (FM). Female patients fulfilling the 1990 American College of Rheumatology (ACR) diagnostic criteria for FM were included into the study. Joint hypermobility and BJHS were assessed using Beighton's scoring system and Brighton criteria, respectively. Echocardiograpic evaluation was performed in order to test the presence of MVP. Of the 75 female FM patients, 68.0 % (n = 51) and 20.0 % (n = 15) were diagnosed with BJHS and MVP, respectively. The frequencies of both MVP and BJHS seemed higher than the general population prevalence (p = 0.000 for both). The frequency of MVP was significantly higher in patients with BJHS than that in patients without BJHS (p = 0.028). In addition, BJHS was found to increase the risk of MVP approximately ninefold [odds ratio (OR) 8.7, 95 % confidence interval (CI) 1.1-70.7]. As a result, BJHS and MVP are both common in female patients with FM. Moreover, among the female patients with FM, those with BJHS are about nine times more prone to MVP than those without BJHS. Cardiologic assessment might be added to the routine follow-up strategies in FM patients with BJHS in order to exclude the cardiac pathologies, especially MVP.

  8. Four Cases of Atopic Dermatitis Complicated by Sjogren's Syndrome: Link between Dry Skin and Autoimmune Anhidrosis

    Directory of Open Access Journals (Sweden)

    Shun Kitaba

    2011-01-01

    Full Text Available We report four adult cases of atopic dermatitis (AD complicated by Sjogren's syndrome (SS. The patients fulfilled diagnostic criteria for AD and SS. All cases showed persistent itchy dry skin and eczematous lesions complicated by sicca symptoms including dry eyes and dry mouth with moderate joint pain. One case manifested annular erythema and another manifested widespread discoid erythema. To investigate the underlying cause of dry skin in these cases, sweating function was evaluated using a quantitative sudomotor axon reflex test (QSART in which the axon reflex is stimulated by acetylcholine iontophoresis. The sweating latency time was significantly prolonged in eczematous skin of AD and AD/SS compared to normal controls. Axon reflex (AXR sweat volume was also significantly reduced in AD (normal and eczematous skin and AD/SS (normal and eczema compared to normal control. In contrast, the direct sweat volume of lesional or non-lesional AD skin induced by direct stimulation with acetylcholine was only slightly reduced compared to that in normal controls, but not in SS and lesional skin of AD/SS patients. These results suggest that the impaired sweat response in AD is attributable to an abnormal sudomotor axon reflex, which is accelerated and modulated when complicated by SS resulting in dry skin in the present cases.

  9. Psychosocial impact on families with an infant with a hypoplastic left heart syndrome during and after the interstage monitoring period - a prospective mixed-method study.

    Science.gov (United States)

    Stoffel, Gaby; Spirig, Rebecca; Stiasny, Brian; Bernet, Vera; Dave, Hitendu; Knirsch, Walter

    2017-11-01

    To investigate parents' experiences, coping ability and quality of life while monitoring their sick child with hypoplastic left heart syndrome at home. Interstage home monitoring for children with hypoplastic left heart syndrome reduces interstage mortality between Norwood stages I and II. Little is known about the psychosocial impact of interstage home monitoring. Prospective mixed-method study. This study assessed the psychosocial impact on parents during interstage home monitoring. This contains for quantitative assessment the Short Form Health Survey questionnaire and the Impact of Family Scale administered one and five weeks following discharge before and after stage II. For qualitative assessment, semi-structured interviews focussing on the postdischarge coping strategies were conducted twice, five weeks after hospital discharge before and after stage II. Ten infants (eight males) with hypoplastic left heart syndrome (n = 7) or other types of univentricular heart malformations (n = 3), and their parents (nine mother/father two-parent households, one single mother) were included. There were no interstage deaths. Mental Health Composite Summary scores were low in both parents (mothers: 40·45 ± 9·07; fathers: 40·58 ± 9·69) and lowest for the item 'vitality' (mothers: 37·0 ± 19·46; fathers: 43·12 ± 25·9) before and after stage II. Impact of Family Scale values showed higher daily and social burdens for mothers. 'Becoming a family' was the most important task as coping strategy to equilibrate the fragile emotional balance. The parents judged interstage home monitoring as a protective intervention. Although psychosocial burden before and after stage II remains high, becoming a family is an essential experience for parents and confirms their parenthood. Healthcare professionals must be aware of parents' needs during this vulnerable interstage period and to provide psychosocial and nursing support. © 2016 John Wiley & Sons Ltd.

  10. Design and baseline characteristics of a coronary heart disease prospective cohort: two-year experience from the strategy of registry of acute coronary syndrome study (ERICO study

    Directory of Open Access Journals (Sweden)

    Alessandra C. Goulart

    2013-01-01

    Full Text Available OBJECTIVES: To describe the ERICO study (Strategy of Registry of Acute Coronary Syndrome, a prospective cohort to investigate the epidemiology of acute coronary syndrome. METHODS: The ERICO study, which is being performed at a secondary general hospital in São Paulo, Brazil, is enrolling consecutive acute coronary syndrome patients who are 35 years old or older. The sociodemographic information, medical assessments, treatment data and blood samples are collected at admission. After 30 days, the medical history is updated, and additional blood and urinary samples are collected. In addition, a retinography, carotid intima-media thickness, heart rate variability and pulse-wave velocity are performed. Questionnaires about food frequency, physical activity, sleep apnea and depression are also applied. At six months and annually after an acute event, information is collected by telephone. RESULTS: From February 2009 to September 2011, 738 patients with a diagnosis of an acute coronary syndrome were enrolled. Of these, 208 (28.2% had ST-elevation myocardial infarction (STEMI, 288 (39.0% had non-ST-elevation myocardial infarction (NSTEMI and 242 (32.8% had unstable angina (UA. The mean age was 62.7 years, 58.5% were men and 77.4% had 8 years or less of education. The most common cardiovascular risk factors were hypertension (76% and sedentarism (73.4%. Only 29.2% had a prior history of coronary heart disease. Compared with the ST-elevation myocardial infarction subgroup, the unstable angina and non-ST-elevation myocardial infarction patients had higher frequencies of hypertension, diabetes, prior coronary heart disease (p<0.001 and dyslipidemia (p = 0.03. Smoking was more frequent in the ST-elevation myocardial infarction patients (p = 0.006. CONCLUSIONS: Compared with other hospital registries, our findings revealed a higher burden of CV risk factors and less frequent prior CHD history.

  11. Depression as a risk factor for poor prognosis among patients with acute coronary syndrome: systematic review and recommendations: a scientific statement from the American Heart Association.

    Science.gov (United States)

    Lichtman, Judith H; Froelicher, Erika S; Blumenthal, James A; Carney, Robert M; Doering, Lynn V; Frasure-Smith, Nancy; Freedland, Kenneth E; Jaffe, Allan S; Leifheit-Limson, Erica C; Sheps, David S; Vaccarino, Viola; Wulsin, Lawson

    2014-03-25

    Although prospective studies, systematic reviews, and meta-analyses have documented an association between depression and increased morbidity and mortality in a variety of cardiac populations, depression has not yet achieved formal recognition as a risk factor for poor prognosis in patients with acute coronary syndrome by the American Heart Association and other health organizations. The purpose of this scientific statement is to review available evidence and recommend whether depression should be elevated to the status of a risk factor for patients with acute coronary syndrome. Writing group members were approved by the American Heart Association's Scientific Statement and Manuscript Oversight Committees. A systematic literature review on depression and adverse medical outcomes after acute coronary syndrome was conducted that included all-cause mortality, cardiac mortality, and composite outcomes for mortality and nonfatal events. The review assessed the strength, consistency, independence, and generalizability of the published studies. A total of 53 individual studies (32 reported on associations with all-cause mortality, 12 on cardiac mortality, and 22 on composite outcomes) and 4 meta-analyses met inclusion criteria. There was heterogeneity across studies in terms of the demographic composition of study samples, definition and measurement of depression, length of follow-up, and covariates included in the multivariable models. Despite limitations in some individual studies, our review identified generally consistent associations between depression and adverse outcomes. Despite the heterogeneity of published studies included in this review, the preponderance of evidence supports the recommendation that the American Heart Association should elevate depression to the status of a risk factor for adverse medical outcomes in patients with acute coronary syndrome.

  12. Blood pressure regulation and resting heart rate abnormalities in adolescent girls with polycystic ovary syndrome.

    Science.gov (United States)

    Zachurzok-Buczynska, Agnieszka; Szydlowski, Leslaw; Gawlik, Aneta; Wilk, Krzysztof; Malecka-Tendera, Ewa

    2011-12-01

    To assess the risk of cardiovascular disease on the basis of biochemical, echocardiographic, and 24-hour blood pressure (BP) monitoring parameters in adolescent girls with polycystic ovary syndrome (PCOS). Cross-sectional study. Academic and research institution. Thirty-four obese and nonobese girls with PCOS were evaluated and compared with body mass index-matched girls with regular menses. None. Androgens, gonadotropins, lipids, and fasting and oral glucose tolerance test-stimulated glucose and insulin concentrations were measured. Echocardiographic assessment and 24-hour BP monitoring were done. Compared with obese controls, obese girls with PCOS had significantly higher 24-hour mean BP, day mean BP, day diastolic BP, and diastolic BP nighttime dip (75.5 ± 4.5 mm Hg vs. 71.7 ± 3.7 mm Hg; 78.2 ± 5.0 mm Hg vs. 73.6 ± 4.0 mm Hg; 67.6 ± 4.9 mm Hg vs. 63.7 ± 3.7 mm Hg; and 20.2% ± 5.2% vs. 15.0% ± 6.6%, respectively). Obese girls with PCOS had significantly higher night heart rate than obese controls (60.4 ± 5.6 beats per minute vs. 61.7 ± 4.8 beats per minute). Left ventricle end-diastolic (4.6 ± 0.3 cm vs. 4.2 ± 0.2 cm) and end-systolic diameter (3.0 ± 0.3 cm vs. 2.7 ± 0.2 cm) were also significantly higher in nonobese girls with PCOS than in nonobese controls; however, all values were still within the accepted range of normal limits. Higher night heart rate in obese girls with PCOS and higher day BP but preserved diastolic nocturnal dip in nonobese girls with PCOS may be regarded as early cardiovascular disease risk factors. Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  13. Impact of heart rate in atrial fibrillation versus sinus rhythm on mortality in octogenarian patients with acute coronary syndrome.

    Science.gov (United States)

    Li, Shijun; Barywani, Salim; Fu, Michael

    2017-01-01

    Association of heart rate (HR) with mortality in patients with acute coronary syndrome (ACS) and aged ≥ 80 years are underrepresented in clinical trials. We therefore aimed to investigate the association of HR in atrial fibrillation (AF) versus sinus rhythm (SR) with all-cause mortality in octogenarian patients with ACS. A total of 336 patients with ACS patients and aged ≥ 80 years were enrolled into the current study. The end point of interest was death from any cause. Association of HR in AF versus SR with mortality was analyzed by Kaplan-Meier curve following log-rank test and multivariable Cox regression analysis. In total, 63 (87.5%) of patients with AF were dead and 147 (59.8%) of patients with SR were dead during the follow-up period. The best cut-off was 80 bpm, with a sensitivity of 62% and specificity of 66%. HR ≤ 80 bpm in SR but not in AF was associated with better outcome as compared with HR > 80 bpm (Chi-Square = 26.55, Log rank P < 0.001). In SR subgroup, the hazard ratios of HR ≤ 80 bpm were 0.51(95% CI 0.37-0.70, P < 0.001) adjusted for age, 0.46 (95%CI 0.33-0.63, P < 0.001) adjusted for gender, 0.62 (95%CI 0.42- 0.93, P = 0.020) adjusted for multivariables respectively. In AF subgroup, the hazard ratios of HR ≤ 80 bpm were 0.83(95% CI 0.49-1.38, P = 0.464) adjusted for age, 0.96 (95%CI 0.59-1.58, P = 0.882) adjusted for gender, 0.72(95% CI 0.41-1.26, P = 0.249) adjusted for multivariables respectively. The current study demonstrates that heart rate is an independent prognostic predictor for all-cause mortality, and HR ≤ 80 bpm is associated with improved outcome in SR but not in AF in octogenarian patients with ACS.

  14. Creation of aorto-pulmonary window with pulmonary artery band is not good palliation for hypoplastic left heart syndrome.

    Science.gov (United States)

    Hosein, Riad B M; Mehta, Chetan; Stickley, John; Mcguirk, Simon P; Jones, Timothy J; Brawn, William J; Barron, David J

    2007-11-01

    A small sub-group of patients with hypoplastic left heart syndrome (HLHS) have normal-sized ascending aorta and arch. An alternative to the Norwood I procedure in these patients is the creation of an aorto-pulmonary (AP) window with a distal pulmonary artery band (PAB). We reviewed our experience with this technique and compared outcomes to the Norwood procedure for HLHS. All patients treated for HLHS in a single institution between 1992 and 2005 were analysed. This identified 13 patients treated with AP window and PAB compared to 333 patients undergoing stage I Norwood procedure. An unrestrictive AP window was created and the main PA was banded. Patient records and echocardiograms were analysed. Median follow-up was 10 (IQR 0-655) days and 100% complete. There were seven early deaths (54%) in the AP window group and two conversions to Norwood circulation. This was a significantly worse outcome than for the Norwood procedure over the same period, which had an early mortality of 29% (p=0.03). Kaplan-Meier actuarial analysis demonstrated a continued survival benefit of the Norwood group at 6 months (p=0.0005). Deaths were due to either low cardiac output syndrome (n=4) or sudden unheralded arrest (n=3). This occurred despite aortic cross-clamp and circulatory arrest times being significantly lower in the AP window group compared to the Norwood group (35+/-27 vs 55+/-16 min, p<0.01 and 16+/-29 vs 55+/-20 min, p<0.01, respectively). No differences in arterial saturations or systolic blood pressure existed between the groups, but diastolic blood pressure was significantly lower in the AP window group at 27+/-10 mmHg compared to 42+/-8 mmHg in the Norwood group (p=0.01) with evidence of flow reversal in the descending aorta. Differences in diastolic blood pressure between groups were abolished after conversion to stage II. Despite favourable anatomy and shorter ischaemic times, the AP window/PAB technique has a poor outcome compared to the Norwood procedure for HLHS. Low

  15. Negative Affectivity, Depression, and Resting Heart Rate Variability (HRV as Possible Moderators of Endogenous Pain Modulation in Functional Somatic Syndromes

    Directory of Open Access Journals (Sweden)

    Maaike Van Den Houte

    2018-03-01

    Full Text Available Background: Several studies have shown that patients with functional somatic syndromes (FSS have, on average, deficient endogenous pain modulation (EPM, as well as elevated levels of negative affectivity (NA and high comorbidity with depression and reduced resting heart rate variability (HRV compared to healthy controls (HC. The goals of this study were (1 to replicate these findings and (2 to investigate the moderating role of NA, depression, and resting HRV in EPM efficiency within a patient group with fibromyalgia and/or chronic fatigue syndrome (CFS. Resting HRV was quantified as the root mean square of successive differences between inter-beat intervals (RMSSD in rest, a vagally mediated time domain measure of HRV.Methods: Seventy-eight patients with fibromyalgia and/or CFS and 33 HC completed a counter-irritation paradigm as a measure of EPM efficiency. Participants rated the painfulness of electrocutaneous stimuli (of individually calibrated intensity on the ankle before (baseline phase, during (counter-irritation phase and after (recovery phase the application of a cold pain stimulus on the forearm. A larger reduction in pain in the counter-irritation phase compared to the baseline phase reflects a more efficient EPM.Results: In contrast to our expectations, there was no difference between pain ratings in the baseline compared to counter-irritation phase for both patients and HC. Therefore, reliable conclusions on the moderating effect of NA, depression, and RMSSD could not be made. Surprisingly, patients reported more pain in the recovery compared to the counter-irritation and baseline phase, while HC did not. This latter effect was more pronounced in patients with comorbid depression, patients who rated the painfulness of the counter-irritation stimulus as high and patients who rated the painfulness of the electrocutaneous stimuli as low. We did not manage to successfully replicate the counter-irritation effect in HC or FSS patients

  16. "Liking" and "wanting" linked to Reward Deficiency Syndrome (RDS): hypothesizing differential responsivity in brain reward circuitry.

    Science.gov (United States)

    Blum, Kenneth; Gardner, Eliot; Oscar-Berman, Marlene; Gold, Mark

    2012-01-01

    In an attempt to resolve controversy regarding the causal contributions of mesolimbic dopamine (DA) systems to reward, we evaluate the three main competing explanatory categories: "liking,"learning," and "wanting" [1]. That is, DA may mediate (a) the hedonic impact of reward (liking), (b) learned predictions about rewarding effects (learning), or (c) the pursuit of rewards by attributing incentive salience to reward-related stimuli (wanting). We evaluate these hypotheses, especially as they relate to the Reward Deficiency Syndrome (RDS), and we find that the incentive salience or "wanting" hypothesis of DA function is supported by a majority of the evidence. Neuroimaging studies have shown that drugs of abuse, palatable foods, and anticipated behaviors such as sex and gaming affect brain regions involving reward circuitry, and may not be unidirectional. Drugs of abuse enhance DA signaling and sensitize mesolimbic mechanisms that evolved to attribute incentive salience to rewards. Addictive drugs have in common that they are voluntarily selfadministered, they enhance (directly or indirectly) dopaminergic synaptic function in the nucleus accumbens (NAC), and they stimulate the functioning of brain reward circuitry (producing the "high" that drug users seek). Although originally believed simply to encode the set point of hedonic tone, these circuits now are believed to be functionally more complex, also encoding attention, reward expectancy, disconfirmation of reward expectancy, and incentive motivation. Elevated stress levels, together with polymorphisms of dopaminergic genes and other neurotransmitter genetic variants, may have a cumulative effect on vulnerability to addiction. The RDS model of etiology holds very well for a variety of chemical and behavioral addictions.

  17. Is nocturnal eating in restless legs syndrome linked to a specific psychopathological profile? A pilot study.

    Science.gov (United States)

    Marconi, Sara; Scarlatti, Fabiano; Rizzo, Giovanni; Antelmi, Elena; Innamorati, Marco; Pompili, Maurizio; Brugnoli, Roberto; Belvederi Murri, Martino; Amore, Mario; Provini, Federica

    2015-11-01

    The purpose of the study was to evaluate psychological comorbidity in drug-naive or drug-free primary restless legs syndrome (p-RLS) patients with nocturnal eating disorder (NED), and to analyze the association of comorbid p-RLS and NED with obsessive-compulsive, mood and anxiety symptoms, and personality. Participants comprised 20 consecutive female outpatients with p-RLS, 10 without NED and 10 with NED, and 10 female controls matched for age. Both patients and controls were evaluated by the Hamilton Depression and the Anxiety Rating Scales, the State-Trait Anxiety Inventory, the Maudsley Obsessive Compulsive Inventory and the temperament and character inventory-revised. Compared to controls, p-RLS patients without and with NED had higher trait anxiety and current anxiety and obsessive-compulsive symptoms. p-RLS patients with NED also had significantly higher doubting compared to p-RLS patients without NED. Furthermore, groups differed for harm avoidance (HA), with p-RLS patients with and without NED having higher scores than controls. Untreated p-RLS patients, particularly those with nocturnal eating, report anxiety and obsessive-compulsive symptoms, perceive stressful situations as dangerous and threatening and tend to respond with anxiety to such situations. They have higher tendency to respond intensely to aversive stimuli, inhibiting behavior to avoid punishment, novelty, and frustrative omission of expected rewards. We hypothesize that higher levels of HA, a biologically determined personality trait, might constitute a diathesis predisposing individuals to display obsessive-compulsive symptoms, namely increasingly severe compulsive nocturnal eating.

  18. Association of polycystic ovary syndrome and Graves′ disease: Is autoimmunity the link between the two diseases

    Directory of Open Access Journals (Sweden)

    Sobia Nisar

    2012-01-01

    Full Text Available Introduction: Polycystic ovary syndrome (PCOS is a common endocrinopathy of women of child-bearing age. Although some studies have suggested an association between PCOS and autoimmune thyroiditis, to our knowledge, only a few cases indicating association between PCOS and Graves′ disease are reported. Objective: We aim to describe this first case series of six women presenting with PCOS and Graves′ disease together. Materials and Methods: Women attending the endocrinology clinic at a tertiary care centre in north India and fulfilling the AE-PCOS criteria for diagnosis of PCOS were studied using a predefined proforma for any clinical, biochemical and imaging features of Graves′ disease. Results: The series consisted of six women with a mean age of 27.5 years and menarche as 12.6 years. All women were lean with mean BMI of 22.73 kg / m 2 and three out of six had waist circumference <80 cm. The mean FG score of subjects was 16.66 and average total testosterone was 77.02 ng / dl (25.0-119.64. All the patients had suppressed TSH, the average being 0.052 μIU/ml (0.01-0.15. Thyroid gland was enlarged in all clinically and on ultrasonography and imaging with 99m Tc and/or RAIU revealed diffuse increased uptake. Conclusions: The association of a rare disorder like Graves′ disease with a relatively common disorder like PCOS is unlikely to be because of a chance alone and may point to a common aetiopathogenic linkage leaving a scope for molecular characterization.

  19. [CARDIOREABILITATION PECULIARITIES AND CORRECTION OF VIOLATIONS OF SISTOLIC, DIASOLIC FUNCTION AND HEART RATE VARIABILITY IN PATIENTS WITH ACUTE CORONARY SYNDROME AND CORONARY ARTERY REVASCULARIZATION].

    Science.gov (United States)

    Shved, M; Tsuglevych, L; Kyrychok, I; Levytska, L; Boiko, T; Kitsak, Ya

    2017-04-01

    In patients with acute coronary syndrome (ACS) who underwent coronary arteries revascularization, violations of hemodynamics, metabolism and heart rate variability often develop in the postoperative period, therefore, the goal of the study was to establish the features of disturbances and the effectiveness of correction of left ventricular systolic and diastolic dysfunction and heart rate variability in stages of cardiorehabilitation in patients with acute coronary syndrome who underwent coronary arteries revascularization. The experimental group included 40 patients with ACS in the postoperative period who underwent balloon angioplasty and stenting of the coronary arteries (25 patients with ST-segment elevation ACS and 15 patients without ST-segment elevation ACS). The age of examined patients was 37 to 74 years, an average of 52.6±6.7 years. The control group consisted of 20 patients, comparable in age and clinico-laboratory manifestations of ACS, who underwent drug treatment with direct anticoagulants, double antiplatelet therapy, β-blockers, ACE inhibitors and statins. Clinical efficacy of cardiorespiratory process in patients of both groups was assessed by the dynamics of general clinical symptoms and parameters of natriuretic propeptide, systolic and diastolic function of the left ventricle and heart rate variability. In the initial state, clinical and laboratory-instrumental signs of myocardial ischemia disappear in patients with ACS undergoing surgical revascularization of the coronary arteries, but clinical and subclinical manifestations of heart failure were diagnosed. The use of the accelerated program of cardiac rehabilitation already during the first month of studies leads to a decreasement of the signs of systolic and diastolic dysfunction, the level of NT-proBNP and improve in the variability of the heart rhythm wich significantly improves the life quality of patients with ACS. To monitor the effectiveness and safety of cardiac rehabilitation in

  20. The Association of Arsenic Exposure and Arsenic Metabolism with the Metabolic Syndrome and its Individual Components: Prospective Evidence from the Strong Heart Family Study.

    Science.gov (United States)

    Spratlen, Miranda J; Grau-Perez, Maria; Best, Lyle G; Yracheta, Joseph; Lazo, Mariana; Vaidya, Dhananjay; Balakrishnan, Poojitha; Gamble, Mary V; Francesconi, Kevin A; Goessler, Walter; Cole, Shelley A; Umans, Jason G; Howard, Barbara V; Navas-Acien, Ana

    2018-03-15

    Inorganic arsenic exposure is ubiquitous and both exposure and inter-individual differences in its metabolism have been associated with cardiometabolic risk. The association between arsenic exposure and arsenic metabolism with metabolic syndrome and its individual components, however, is relatively unknown. We used poisson regression with robust variance to evaluate the association between baseline arsenic exposure (urine arsenic levels) and metabolism (relative percentage of arsenic species over their sum) with incident metabolic syndrome and its individual components (elevated waist circumference, elevated triglycerides, reduced HDL, hypertension, elevated fasting plasma glucose) in 1,047 participants from the Strong Heart Family Study, a prospective family-based cohort in American Indian communities (baseline visits in 1998-1999 and 2001-2003, follow-up visits in 2001-2003 and 2006-2009). 32% of participants developed metabolic syndrome over follow-up. An IQR increase in arsenic exposure was associated with 1.19 (95% CI: 1.01, 1.41) greater risk for elevated fasting plasma glucose but not with other individual components or overall metabolic syndrome. Arsenic metabolism, specifically lower MMA% and higher DMA% was associated with higher risk of overall metabolic syndrome and elevated waist circumference, but not with any other component. These findings support there is a contrasting and independent association between arsenic exposure and arsenic metabolism with metabolic outcomes which may contribute to overall diabetes risk.

  1. Elevated serum advanced glycation endproducts in obese indicate risk for the metabolic syndrome: a link between healthy and unhealthy obesity?

    Science.gov (United States)

    Uribarri, Jaime; Cai, Weijing; Woodward, Mark; Tripp, Elizabeth; Goldberg, Laurie; Pyzik, Renata; Yee, Kalle; Tansman, Laurie; Chen, Xue; Mani, Venkatesh; Fayad, Zahi A; Vlassara, Helen

    2015-05-01

    Although obesity can predispose to the metabolic syndrome (MS), diabetes, and cardiovascular disease, not all obese subjects develop MS, hence the need for new indicators of risk for this syndrome. Advanced glycation end products (AGEs) correlate with factors involved in the MS, including inflammation and insulin resistance (IR). Because AGEs can be derived from food and are modifiable, it is important to determine whether they are a risk factor for MS. The objective of this study was to assess the association of endogenous and exogenous AGEs with MS criteria. The following data were collected in a cross-sectional study of subjects with and without the MS: serum AGEs (sAGEs) and mononuclear cell AGEs, metabolites, pro- and antiinflammatory markers, body fat mass measures, including abdominal magnetic resonance imaging, and caloric and dietary AGE (dAGE) consumption. The study was conducted in the general community. Participants included 130 MS and 139 non-MS subjects of both sexes, older than 50 years. sAGEs ((ϵ)N-carboxymethyllysine, methylglyoxal) were markedly elevated in obese persons with more than one other MS criteria but not in obese without MS criteria. sAGEs directly correlated with markers of IR (HOMA) and inflammation (leptin, TNFα, RAGE) and inversely with innate defenses (SIRT1, AGE receptor 1 [AGER1], glyoxalase-I, adiponectin). sAGEs correlated with dAGEs but not with calories, nutrient consumption, or fat mass measures. Consumption of dAGE, but not of calories, was markedly higher in MS than in non-MS. High sAGEs, a modifiable risk factor for IR, may indicate risk for the MS, type 2 diabetes, and cardiovascular disease. High dietary AGE consumption and serum AGE levels may link healthy obesity to at-risk obesity.

  2. Role of optimal medication given to patients with hypertension and ischemic heart disease prior to an acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Călin Pop

    2017-10-01

    Full Text Available IntroductionAdministering optimal cardiovascular medication (OCM to patients with hypertension (HBP and ischemic heart disease (IHD lowers cardiovascular morbidity and mortality.The main objective of this study was to compare in-hospital cardiac mortality among patients with HBP and/or IHD, treated or untreated with OCM, who developed a first episode of acute coronary syndrome (ACS.MethodsThe study was carried out retrospectively and included patients admitted with a first episode of ACS between 2013 and 2016. The patients were divided into three groups: those with HBP, IHD, and a history of HBP + IHD. Patients were then divided into two subgroups: subgroup A consisted of patients undergoing optimal anti-ischemic and/or antihypertensive therapy, while subgroup B consisted of patients without OCM.ResultsThis analysis comprised 1096 patients. Mean age was 64.3 ± 18 years. There were 581 patients in subgroup A – 53%, and 515 patients in subgroup B – 47%. Total cardiac mortality was 9.98%, different depending on the groups and subgroups studied: HBP group total – 7%, subgroup A – 5.1%, significantly lower compared to subgroup B – 9.4% (p = 0.05; IHD group total – 12.2%, subgroup A – 9.07%, significantly lower compared to subgroup B – 15.8% (p = 0.05; HBP + IHD group total – 14.35%, subgroup A – 9.9%, significantly lower compared to subgroup B – 18.8% (p = 0.05.ConclusionsThe lack of OCM in patients with HBP and/or IHD is correlated to a significant increase in in-hospital cardiac mortality among patients who develop a first-episode ACS.

  3. Hyperhomocysteinemia, coronary heart disease, and diabetes mellitus as predicted by various definitions for metabolic syndrome in a hypertensive Saudi population

    International Nuclear Information System (INIS)

    Al-Daghri, Nasser M.

    2007-01-01

    From the emergence of different definitions of metabolic syndrome (MS) we aim to determine the prevalence of such a condition among hypertensive Saudi population and to identify which definition can best assess the risk of hyperhomocysteinemia, coronary heart disease (CHD), and diabetes mellitus. In this cross-sectional study, we studied 581 hypertensive Saudis, aged 21-70, at the King Abdul-Aziz University Hospital, from June 2005 to December 2005 Each participant completed the questionnaire and underwent a complete physical examination. Metabolic parameters were measured using routine laboratory procedures and homocysteine using HPLC by the electrochemical detection method. According to the International Diabetes Federation (IDF) definition we diagnosed 222 males and 256 females. There is an increased risk for hyperhomocystenemia using the Adult Treatment Panel III (ATPIII) guidelines (odds ratio [OR] 3.30, 95% confidence interval [CI] 0.87-12.56; p=0.08) compared to IDF (OR 0.59, CI 0.17-2.10; p=0.41) and WHO (OR 0.45, CI 0.16-1.25; p=0.12); increased risk for probable CHD in patients with MS by WHO (OR 2.17, CI 1.11-4.25; p=0.02) compared to ATPIII (OR 2.14, CI 1.05-4.35; p=0.035) and IDF (OR 0.81, CI 0.37-1.78; p=0.6); risk of DM is highest with IDF (OR 13.07, CI 1.66-102.94; p=0.015). There is a high prevalence of MS among hypertensive Saudis regardless of definition used; it is most prevalent using the IDF definition as well as the risk for diabetes Patients diagnosed with ATPIII guidelines have greater risk of hyperhomocysteinemia. We recommend the WHO definition for Arabs since it predicts increased risk for CHD. (author)

  4. Modeling single ventricle physiology: review of engineering tools to study first stage palliation of hypoplastic left heart syndrome.

    Science.gov (United States)

    Biglino, Giovanni; Giardini, Alessandro; Hsia, Tain-Yen; Figliola, Richard; Taylor, Andrew M; Schievano, Silvia

    2013-10-30

    First stage palliation of hypoplastic left heart syndrome, i.e., the Norwood operation, results in a complex physiological arrangement, involving different shunting options (modified Blalock-Taussig, RV-PA conduit, central shunt from the ascending aorta) and enlargement of the hypoplastic ascending aorta. Engineering techniques, both computational and experimental, can aid in the understanding of the Norwood physiology and their correct implementation can potentially lead to refinement of the decision-making process, by means of patient-specific simulations. This paper presents some of the available tools that can corroborate clinical evidence by providing detailed insight into the fluid dynamics of the Norwood circulation as well as alternative surgical scenarios (i.e., virtual surgery). Patient-specific anatomies can be manufactured by means of rapid prototyping and such models can be inserted in experimental set-ups (mock circulatory loops) that can provide a valuable source of validation data as well as hydrodynamic information. Such models can be tuned to respond to differing the patient physiologies. Experimental set-ups can also be compatible with visualization techniques, like particle image velocimetry and cardiovascular magnetic resonance, further adding to the knowledge of the local fluid dynamics. Multi-scale computational models include detailed three-dimensional (3D) anatomical information coupled to a lumped parameter network representing the remainder of the circulation. These models output both overall hemodynamic parameters while also enabling to investigate the local fluid dynamics of the aortic arch or the shunt. As an alternative, pure lumped parameter models can also be employed to model Stage 1 palliation, taking advantage of a much lower computational cost, albeit missing the 3D anatomical component. Finally, analytical techniques, such as wave intensity analysis, can be employed to study the Norwood physiology, providing a mechanistic

  5. Very early screening for sleep-disordered breathing in acute coronary syndrome in patients without acute heart failure.

    Science.gov (United States)

    Van den Broecke, Sandra; Jobard, Olivier; Montalescot, Gilles; Bruyneel, Marie; Ninane, Vincent; Arnulf, Isabelle; Similowski, Thomas; Attali, Valérie

    2014-12-01

    Obstructive sleep apnea (OSA) is frequently associated with acute coronary syndrome (ACS). Screening of sleep-disordered breathing (SDB) has not been previously evaluated in ACS within 72 h in intensive care settings and its management could potentially enhance patients' prognosis. This pilot study assessed the feasibility of SDB screening at the early phase of ACS. All consecutive patients admitted to the coronary care unit (CCU) for ACS without acute heart failure underwent one overnight-attended polysomnography (PSG) within 72 h after admission. A telemonitoring (TM) system was set up to remotely monitor the signals and repair faulty sensors. The 27 recordings were analyzed as respiratory polygraphy (RP) and as PSG, and the results were compared. The TM system allowed successful intervention in 48% of recordings, resulting in excellent quality PSG for 89% of cases. The prevalence of SDB [apnea-hypopnea index (AHI) ≥ 15/h] was 82% and mainly consisted of central SDB and periodic breathing, except three patients with OSA. Compared with PSG, RP underestimated AHI, probably due to the poor sleep efficiency, reduction of slow-wave sleep, and alteration of rapid eye movement sleep. An early SDB screening by remote-attended PSG is feasible in ACS patients shortly after admission to CCU. The TM enhanced the quality of PSG. A high prevalence of central SDB was noticed, for which the etiology remains unknown. Further large-scale studies are needed to determine whether central SDB is an incidental finding in early ACS and whether the presence and severity of SDB have a prognostic impact. Copyright © 2014 Elsevier B.V. All rights reserved.

  6. Healing the heart: a randomized pilot study of a spiritual retreat for depression in acute coronary syndrome patients.

    Science.gov (United States)

    Warber, Sara L; Ingerman, Sandra; Moura, Vera L; Wunder, Jenna; Northrop, Alyssa; Gillespie, Brenda W; Durda, Kate; Smith, Katherine; Rhodes, Katherine S; Rubenfire, Melvyn

    2011-01-01

    Depression is associated with increased risk of cardiovascular morbidity and mortality in coronary heart disease. Numerous conventional and complementary therapies may address depression. Few involving spirituality have been tested. The aim of this study was to compare the effects of a nondenominational spiritual retreat, Medicine for the Earth (MFTE), on depression and other measures of well-being six- to 18-months post acute coronary syndrome (ACS). A randomized controlled pilot study of MFTE, Lifestyle Change Program (LCP), or usual cardiac care (control) was conducted in Southeastern Michigan. ACS patients were recruited via local and national advertising (n = 58 enrolled, 41 completed). The four-day MFTE intervention included guided imagery, meditation, drumming, journal writing, and nature-based activities. The four-day LCP included nutrition education, exercise, and stress management. Both retreat groups received follow-up phone coaching biweekly for three months. Validated self-report scales of depression, spiritual well-being, perceived stress, and hope were collected at baseline, immediately post-retreat, and at three and six months. Depression was not significantly different among groups (P = .21). However, the MFTE group had the highest depression scores at baseline and had significantly lower scores at all postintervention time points (P ≤ .002). Hope significantly improved among MFTE participants, an effect that persisted at three- and six-month follow-up (P = .014). Although several measures showed improvement in all groups by six months, the MFTE group had immediate improvement post-retreat, which was maintained. This pilot study shows that a nondenominational spiritual retreat, MFTE, can be used to increase hope while reducing depression in patients with ACS. Copyright © 2011 Elsevier Inc. All rights reserved.

  7. Periodontal bacteria DNA findings in human cardiac tissue - Is there a link of periodontitis to heart valve disease?

    Science.gov (United States)

    Ziebolz, D; Jahn, C; Pegel, J; Semper-Pinnecke, E; Mausberg, R F; Waldmann-Beushausen, R; Schöndube, F A; Danner, B C

    2018-01-15

    The aim of the study was to detect periodontal pathogens DNA in atrial and myocardial tissue, and to investigate periodontal status and their connection to cardiac tissue inflammation. In 30 patients, biopsy samples were taken from the atrium (A) and the ventricle myocardium (M) during aortic valve surgery. The dental examination included the dental and periodontal status (PS) and a collection of a microbiological sample. The detection of 11 periodontal pathogens DNA in oral and heart samples was carried out using PCR. The heart samples were prepared for detecting the LPS-binding protein (LBP), and for inflammation scoring on immunohistochemistry (IHC), comprising macrophages (CD68), LPS-binding protein receptor (CD14), and LBP (big42). 28 (93%) patients showed moderate to severe periodontitis. The periodontal pathogens in the oral samples of all patients revealed a similar distribution (3-93%). To a lesser extent and with a different distribution, these bacteria DNA were also detected in atrium and myocardium (3-27%). The LBP was detected in higher amount in atrium (0.22±0.16) versus myocardium (0.13±0.13, p=0.001). IHC showed a higher inflammation score in atrial than myocardial tissue as well as for CD14, CD68 and for LBP. Additional, periodontal findings showed a significant correlation to CD14 and CD68. The results provide evidence of the occurrence of oral bacteria DNA at the cardiac tissue, with a different impact on atrial and myocardial tissue inflammation. Influence of periodontal findings was identified, but their relevance is not yet distinct. Therefore further clinical investigations with long term implication are warranted. Copyright © 2017 Elsevier B.V. All rights reserved.

  8. Management and Long-Term Outcome of Acute Coronary Syndrome Patients Presenting with Heart Failure in a Contemporary New Zealand Cohort (ANZACS-QI 4).

    Science.gov (United States)

    Kueh, Shaw Hua Anthony; Devlin, Gerry; Lee, Mildred; Doughty, Rob N; Kerr, Andrew J

    2016-08-01

    Acute heart failure (HF) associated with an acute coronary syndrome (ACS) predicts adverse outcome. There have been important recent improvements in ACS management. Our aim was to describe the management and outcomes in those with and without HF in a contemporary ACS cohort. Consecutive patients presenting with ACS between 2007 and 2011 were enrolled in the All New Zealand Acute Coronary Syndrome Quality Improvement (ANZACS-QI) registry. Outcomes and medication dispensing were obtained using anonymised linkage to national data sets. A summary pharmacotherapy measure of "quadruple therapy" was defined as dispensing of at least one agent from each of the four evidence-based classes - anti-platelet, statin, angiotensin converting enzyme inhibitor/angiotensin receptor blocker and beta blocker. Of 3743 ACS patients 14% had acute HF. Acute heart failure patients were older (69.2±12.6 vs 62.3±12.8 years, pcoronary angiography (66% vs 86%, pAcute heart failure complicating ACS is associated with heightened risk of short-term and long-term mortality. One in three ACS patients with HF did not have coronary angiography and less than half received quadruple therapy a year after presentation. Copyright © 2016. Published by Elsevier B.V.

  9. A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX).

    Science.gov (United States)

    Zhou, Qi; Yao, Fengxia; Wang, Feng; Li, Hui; Chen, Rui; Sui, Ruifang

    2018-01-01

    Turner syndrome with retinitis pigmentosa (RP) is rare, with only three cases reported based on clinical examination alone. We summarized the 4-year follow-up and molecular findings in a 28-year-old patient with Turner syndrome and the typical features of short stature and neck webbing, who also had X-linked RP. Her main complaints were night blindness and progressive loss of vision since the age of 9 years. Ophthalmologic examination, optical coherent tomographic imaging, and visual electrophysiology tests showed classic manifestations of RP. The karyotype of peripheral blood showed mosaicism (45,X [72%]/46,XX[28%]). A novel heterozygous frameshift mutation (c.2403_2406delAGAG, p.T801fsX812) in the RP GTPase regulator (RPGR) gene was detected using next generation sequencing and validated by Sanger sequencing. We believe that this is the first report of X-linked RP in a patient with Turner syndrome associated with mosaicism, and an RPGR heterozygous mutation. We hypothesize that X-linked RP in this woman is not related to Turner syndrome, but may be a manifestation of the lack of a normal paternal X chromosome with intact but mutated RPGR. © 2017 Wiley Periodicals, Inc.

  10. Dysregulation of X-Linked Gene Expression in Klinefelter’s Syndrome and Association With Verbal Cognition

    Science.gov (United States)

    Vawter, Marquis P.; Harvey, Philip D.; DeLisi, Lynn E.

    2007-01-01

    Klinefelter’s Syndrome (KS) is a chromosomal karyotype with one or more extra X chromosomes. KS individuals often show language impairment and the phenotype might be due to overexpression of genes on the extra X chromosome(s). We profiled mRNA derived from lymphoblastoid cell lines from males with documented KS and control males using the Affymetrix U133P microarray platform. There were 129 differentially expressed genes (DEGs) in KS group compared with controls after Benjamini–Hochberg false discovery adjustment. The DEGs included 14 X chromosome genes which were significantly over-represented. The Y chromosome had zero DEGs. In exploratory analysis of gene expression–cognition relationships, 12 DEGs showed significant correlation of expression with measures of verbal cognition in KS. Overexpression of one pseudoautosomal gene, GTPBP6 (GTP binding protein 6, putative) was inversely correlated with verbal IQ (r = −0.86, P < 0.001) and four other measures of verbal ability. Overexpression of XIST was found in KS compared to XY controls suggesting that silencing of many genes on the X chromosome might occur in KS similar to XX females. The microarray findings for eight DEGs were validated by quantitative PCR. The 14 X chromosome DEGs were not differentially expressed in prior studies comparing female and male brains suggesting a dysregulation profile unique to KS. Examination of X-linked DEGs, such as GTPBP6, TAF9L, and CXORF21, that show verbal cognition–gene expression correlations may establish a causal link between these genes, neurodevelopment, and language function. A screen of candidate genes may serve as biomarkers of KS for early diagnosis. PMID:17347996

  11. A family with unusual Waardenburg syndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to PAX 3.

    Science.gov (United States)

    Pierpont, J W; St Jacques, D; Seaver, L H; Erickson, R P

    1995-03-01

    An unusual family with Waardenburg syndrome type 1 (WSI), cleft lip (palate), and Hirschsprung disease is not linked to the PAX 3 gene since there is an obligate crossover which has occurred between PAX 3 DNA markers and the disorder in this family. This family may also have anticipation of the WSI traits as the proband's grandmother is nonpenetrant, his mother has dystopia canthorum, and severe cleft lip (palate), while the proband has dystopia canthorum, severe cleft lip (palate), and Hirschsprung disease. Thus, a locus other than PAX 3 is implicated in this Waardenburg-like syndrome with Hirschsprung disease and cleft lip (palate).

  12. Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).

    Science.gov (United States)

    Brooks, Simon; Ebenezer, Neil; Poopalasundaram, Subathra; Maher, Eamonn; Francis, Peter; Moore, Anthony; Hardcastle, Alison

    2004-06-01

    The X-linked congenital cataract (CXN) locus has been mapped to a 3-cM (approximately 3.5 Mb) interval on chromosome Xp22.13, which is syntenic to the mouse cataract disease locus Xcat and encompasses the recently refined Nance-Horan syndrome (NHS) locus. A positional cloning strategy has been adopted to identify the causative gene. In an attempt to refine the CXN locus, seven microsatellites were analysed within 21 individuals of a CXN family. Haplotypes were reconstructed confirming disease segregation with markers on Xp22.13. In addition, a proximal cross-over was observed between markers S3 and S4, thereby refining the CXN disease interval by approximately 400 Kb to 3.2 Mb, flanked by markers DXS9902 and S4. Two known genes (RAI2 and RBBP7) and a novel gene (TL1) were screened for mutations within an affected male from the CXN family and an NHS family by direct sequencing of coding exons and intron- exon splice sites. No mutations or polymorphisms were identified, therefore excluding them as disease-causative in CXN and NHS. In conclusion, the CXN locus has been successfully refined and excludes PPEF1 as a candidate gene. A further three candidates were excluded based on sequence analysis. Future positional cloning efforts will focus on the region of overlap between CXN, Xcat, and NHS.

  13. Site-Specific Gene Editing of Human Hematopoietic Stem Cells for X-Linked Hyper-IgM Syndrome

    Directory of Open Access Journals (Sweden)

    Caroline Y. Kuo

    2018-05-01

    Full Text Available X-linked hyper-immunoglobulin M (hyper-IgM syndrome (XHIM is a primary immunodeficiency due to mutations in CD40 ligand that affect immunoglobulin class-switch recombination and somatic hypermutation. The disease is amenable to gene therapy using retroviral vectors, but dysregulated gene expression results in abnormal lymphoproliferation in mouse models, highlighting the need for alternative strategies. Here, we demonstrate the ability of both the transcription activator-like effector nuclease (TALEN and clustered regularly interspaced short palindromic repeats-associated protein 9 (CRISPR/Cas9 platforms to efficiently drive integration of a normal copy of the CD40L cDNA delivered by Adeno-Associated Virus. Site-specific insertion of the donor sequence downstream of the endogenous CD40L promoter maintained physiologic expression of CD40L while overriding all reported downstream mutations. High levels of gene modification were achieved in primary human hematopoietic stem cells (HSCs, as well as in cell lines and XHIM-patient-derived T cells. Notably, gene-corrected HSCs engrafted in immunodeficient mice at clinically relevant frequencies. These studies provide the foundation for a permanent curative therapy in XHIM.

  14. Thrombin activatable fibrinolysis inhibitor (TAFI) - A possible link between coagulation and complement activation in the antiphospholipid syndrome (APS).

    Science.gov (United States)

    Grosso, Giorgia; Vikerfors, Anna; Woodhams, Barry; Adam, Mariette; Bremme, Katarina; Holmström, Margareta; Ågren, Anna; Eelde, Anna; Bruzelius, Maria; Svenungsson, Elisabet; Antovic, Aleksandra

    2017-10-01

    Thrombosis and complement activation are pathogenic features of antiphospholipid syndrome (APS). Their molecular link is Plasma carboxypeptidase-B, also known as thrombin activatable fibrinolysis inhibitor (TAFIa), which plays a dual role: anti-fibrinolytic, by cleaving carboxyl-terminal lysine residues from partially degraded fibrin, and anti-inflammatory, by downregulating complement anaphylatoxins C3a and C5a. To investigate the levels of TAFI (proenzyme) and TAFIa (active enzyme) in relation to complement activation, fibrin clot permeability and fibrinolytic function in clinical and immunological subsets of 52 APS patients and 15 controls. TAFI (pAPS patients compared to controls. Furthermore, TAFIa was increased (pAPS patients affected by arterial thrombosis compared to other APS-phenotypes. Positive associations were found between TAFI and age, fibrinogen and C5a, and between TAFIa and age, fibrinogen and thrombomodulin. TAFI and TAFIa levels were increased in patients with APS as a potential response to complement activation. Interestingly, TAFI activation was associated with arterial thrombotic APS manifestations. Thus, TAFIa may be considered a novel biomarker for arterial thrombosis in APS. Copyright © 2017 Elsevier Ltd. All rights reserved.

  15. Adiponectin and its receptors in the ovary: further evidence for a link between obesity and hyperandrogenism in polycystic ovary syndrome.

    Directory of Open Access Journals (Sweden)

    Fabio V Comim

    Full Text Available Polycystic ovary syndrome (PCOS, characterized by ovarian androgen excess, is the commonest endocrine disorder in women. Obesity increases androgen synthesis, a phenomenon attributed to the accompanying hyperinsulinemia. Our hypothesis was that adipokines, fat cell-derived hormones, play a direct role in modulating ovarian androgen secretion. Therefore, the aims of this study were to explore the effects of adipokines (in particular, adiponectin on ovarian steroidogenesis and compare the expression of adiponectin receptors in ovaries from women with and without PCO. Sections of archived human ovaries (nine from women with normal ovaries and 16 with PCOS, classified histologically, with reference to menstrual history and ultrasound were analysed by quantitative morphometry and the proportion of positive-labelling cells compared. In addition, studies of androgen production in relation to adipokine function in primary bovine theca cell culture were also performed. A significantly lower proportion of theca cells expressed adiponectin receptors 1 and 2 (AdipoR1, AdipoR2 in polycystic ovaries than in normal ovaries. In cultured theca cells, adiponectin suppressed androstenedione production and gene expression of LH receptor and key enzymes in the androgen synthesis pathway. Moreover, knockdown of genes for AdipoR1 and AdipoR2 was associated with increased androstenedione secretion by bovine theca cells. These results provide evidence for a direct link between fat cell metabolism and ovarian steroidogenesis, suggesting that disruption of adiponectin and/or its receptors plays a key role in pathogenesis of hyperandrogenism in PCOS.

  16. Adiponectin and Its Receptors in the Ovary: Further Evidence for a Link between Obesity and Hyperandrogenism in Polycystic Ovary Syndrome

    Science.gov (United States)

    Comim, Fabio V.; Hardy, Kate; Franks, Stephen

    2013-01-01

    Polycystic ovary syndrome (PCOS), characterized by ovarian androgen excess, is the commonest endocrine disorder in women. Obesity increases androgen synthesis, a phenomenon attributed to the accompanying hyperinsulinemia. Our hypothesis was that adipokines, fat cell-derived hormones, play a direct role in modulating ovarian androgen secretion. Therefore, the aims of this study were to explore the effects of adipokines (in particular, adiponectin) on ovarian steroidogenesis and compare the expression of adiponectin receptors in ovaries from women with and without PCO. Sections of archived human ovaries (nine from women with normal ovaries and 16 with PCOS, classified histologically, with reference to menstrual history and ultrasound) were analysed by quantitative morphometry and the proportion of positive-labelling cells compared. In addition, studies of androgen production in relation to adipokine function in primary bovine theca cell culture were also performed. A significantly lower proportion of theca cells expressed adiponectin receptors 1 and 2 (AdipoR1, AdipoR2) in polycystic ovaries than in normal ovaries. In cultured theca cells, adiponectin suppressed androstenedione production and gene expression of LH receptor and key enzymes in the androgen synthesis pathway. Moreover, knockdown of genes for AdipoR1 and AdipoR2 was associated with increased androstenedione secretion by bovine theca cells. These results provide evidence for a direct link between fat cell metabolism and ovarian steroidogenesis, suggesting that disruption of adiponectin and/or its receptors plays a key role in pathogenesis of hyperandrogenism in PCOS. PMID:24260388

  17. Autonomic components of Complex Regional Pain Syndrome (CRPS) are favourably affected by Electrical Twitch-Obtaining Intramuscular Stimulation (ETOIMS): effects on blood pressure and heart rate.

    Science.gov (United States)

    Chu, Jennifer; Bruyninckx, Frans; Neuhauser, Duncan V

    2017-07-01

    Favourable pain relief results on evoking autonomous twitches at myofascial trigger points with Electrical Twitch Obtaining Intramuscular Stimulation (ETOIMS). To document autonomic nervous system (ANS) dysfunction in Complex Regional Pain Syndrome (CRPS) from blood pressure (BP) and pulse/heart rate changes with ETOIMS. A patient with persistent pain regularly received serial ETOIMS sessions of 60, 90, 120 or ≥150 min over 24 months. Outcome measures include BP: systolic, diastolic, pulse pressure and pulse/heart rate, pre-session/immediate-post-session summed differences (SDPPP index), and pain reduction. His results were compared with that of two other patients and one normal control. Each individual represented the following maximal elicitable twitch forces (TWF) graded 1-5: maximum TWF2: control subject; maximum TWF3: CRPS patient with suspected ANS dysfunction; and maximum TWF4 and TWF5: two patients with respective slow-fatigue and fast-fatigue twitches who during ETOIMS had autonomous twitching at local and remote myotomes simultaneously from denervation supersensitivity. ETOIMS results between TWFs were compared using one-way analysis of variance test. The patients showed immediate significant pain reduction, BP and pulse/heart rate changes/reduction(s) except for diastolic BP in the TWF5 patient. TWF2 control subject had diastolic BP reduction with ETOIMS but not with rest. Linear regression showed TWF grade to be the most significant variable in pain reduction, more so than the number of treatments, session duration and treatment interval. TWF grade was the most important variable in significantly reducing outcome measures, especially pulse/heart rate. Unlike others, the TWF3 patient had distinctive reductions in SDPPP index. Measuring BP and pulse/heart rate is clinically practical for alerting ANS dysfunction maintained CRPS. SDPPP index (≥26) and pulse/heart rate (≥8) reductions with almost every ETOIMS treatment, plus inability to evoke

  18. Perioperative Management of a Child with Hypoplastic Left Heart Syndrome of the Jehovah's Witness Faith Presenting for Hybrid Comprehensive Stage II Procedure.

    Science.gov (United States)

    Karuppiah, Sathappan; Mckee, Christopher; Hodge, Ashley; Galantowicz, Mark; Tobias, Joseph; Naguib, Aymen

    2016-09-01

    Over the years, there has been a growing recognition of the potential negative sequelae of allogeneic blood products on postoperative outcomes following cardiac surgery. In addition, followers of the Jehovah's Witness (JW) faith have a religious restriction against receiving blood or blood components. Advances in perioperative care, cardiopulmonary bypass (CPB), and surgical technique have minimized the need for allogeneic blood products. Specific blood conservation strategies include maximizing the preoperative hematocrit and coagulation function as well as intraoperative strategies, such as acute normovolemic hemodilution and adjustments of the technique of CPB. We report a 7-month-old patient whose parents were of the JW faith who underwent a comprehensive stage II procedure for hypoplastic left heart syndrome without exposure to blood or blood products during his hospital stay. Perioperative techniques for blood avoidance are discussed with emphasis on their application to infants undergoing surgery for congenital heart disease.

  19. Cardiac Autonomic Modulation and the Kinetics of Heart Rate Responses in the On- and Off-Transient during Exercise in Women with Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Lucas R. B. E. Silva

    2017-07-01

    Full Text Available Objective: To test whether women with metabolic syndrome (MS have impairments in the on- and off-transients during an incremental test and to study whether any of the MS components are independently associated with the observed responses.Research Design and Methods: Thirty-six women aged 35–55 years were divided into a group with MS (MSG, n = 19 and a control group (CG, n = 17. R-R intervals (RRi and heart rate variability (HRV were calculated on a beat-to-beat basis and the heart rate (HR at the on- and off-transient were analyzed during an incremental cardiopulmonary exercise test (CPET.Results: MSG showed lower aerobic capacity and lower parasympathetic cardiac modulation at rest compared with CG. HR values in on-transient phase were significantly lower in MSG compared with CG. The exponential amplitudes “amp” and the parameters “τ” [speed of heart rate recovery (HRR] were lower in MSG. MSG exhibited higher HR values in comparison to CG during the off-transient indicating a slower HRR. In MSG, there was an inverse and significant correlation between fasting plasma vs. ΔF and glucose vs. exponential “τ” of HRR dynamics.Conclusion: MS is associated with poor heart rate kinetics. The altered HR kinetics seems to be related to alterations in cardiac parasympathetic modulation, and glucose metabolism seems to be the major determinant.

  20. Task Force on Catastrophic Antiphospholipid Syndrome (APS) and Non-criteria APS Manifestations (I): catastrophic APS, APS nephropathy and heart valve lesions.

    Science.gov (United States)

    Cervera, R; Tektonidou, M G; Espinosa, G; Cabral, A R; González, E B; Erkan, D; Vadya, S; Adrogué, H E; Solomon, M; Zandman-Goddard, G; Shoenfeld, Y

    2011-02-01

    The objectives of the 'Task Force on Catastrophic Antiphospholipid Syndrome (APS) and Non-criteria APS Manifestations' were to assess the clinical utility of the international consensus statement on classification criteria and treatment guidelines for the catastrophic APS, to identify and grade the studies that analyse the relationship between the antiphospholipid antibodies and the non-criteria APS manifestations and to present the current evidence regarding the accuracy of these non-criteria APS manifestations for the detection of patients with APS. This article summarizes the studies analysed on the catastrophic APS, APS nephropathy and heart valve lesions, and presents the recommendations elaborated by the Task Force after this analysis.

  1. Novel syndrome of cataracts, retinitis pigmentosa, late onset deafness and sperm abnormalities: a new Usher syndrome subtype with X-linked inheritance?

    Science.gov (United States)

    Malekpour, Mahdi; Shahidi, Arash; Khorsandi Ashtiani, Mohammad Taghi; Motasaddi Zarandy, Masoud

    2007-07-15

    Tissues of the auditory, ocular and reproductive systems have some similarities in their protein families and structures. Consequently, syndromes comprising these systems are described. Hearing loss alone is a component of more than 400 known syndromes and is a common nonsyndromic congenital disorder. Here we describe a syndrome in five brothers with the distinctive presentation of late-onset progressive hearing loss, cataracts, retinitis pigmentosa, sperm motility and shape problems in a family from the Kurdish population in Iran. The clinical findings of these patients are presented in detail and compared to the classical Usher syndromes. (c) 2007 Wiley-Liss, Inc

  2. Intestinal congestion and right ventricular dysfunction: a link with appetite loss, inflammation, and cachexia in chronic heart failure.

    Science.gov (United States)

    Valentova, Miroslava; von Haehling, Stephan; Bauditz, Juergen; Doehner, Wolfram; Ebner, Nicole; Bekfani, Tarek; Elsner, Sebastian; Sliziuk, Veronika; Scherbakov, Nadja; Murín, Ján; Anker, Stefan D; Sandek, Anja

    2016-06-01

    Mechanisms leading to cachexia in heart failure (HF) are not fully understood. We evaluated signs of intestinal congestion in patients with chronic HF and their relationship with cachexia. Of the 165 prospectively enrolled outpatients with left ventricular ejection fraction ≤40%, 29 (18%) were cachectic. Among echocardiographic parameters, the combination of right ventricular dysfunction and elevated right atrial pressure (RAP) provided the best discrimination between cachectic and non-cachectic patients [area under the curve 0.892, 95% confidence interval (CI): 0.832-0.936]. Cachectic patients, compared with non-cachectic, had higher prevalence of postprandial fullness, appetite loss, and abdominal discomfort. Abdominal ultrasound showed a larger bowel wall thickness (BWT) in the entire colon and terminal ileum in cachectic than in non-cachectic patients. Bowel wall thickness correlated positively with gastrointestinal symptoms, high-sensitivity C-reactive protein, RAP, and truncal fat-free mass, the latter serving as a marker of the fluid content. Logistic regression analysis showed that BWT was associated with cachexia, even after adjusting for cardiac function, inflammation, and stages of HF (odds ratio 1.4, 95% CI: 1.0-1.8; P-value = 0.03). Among the cardiac parameters, only RAP remained significantly associated with cachexia after multivariable adjustment. Cardiac cachexia was associated with intestinal congestion irrespective of HF stage and cardiac function. Gastrointestinal discomfort, appetite loss, and pro-inflammatory activation provide probable mechanisms, by which intestinal congestion may trigger cardiac cachexia. However, our results are preliminary and larger studies are needed to clarify the intrinsic nature of this relationship. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2016. For permissions please email: journals.permissions@oup.com.

  3. Physical self-concept and its link to cardiopulmonary exercise tolerance among adolescents with mild congenital heart disease.

    Science.gov (United States)

    Chen, Chi-Wen; Su, Wen-Jen; Wang, Jou-Kou; Yang, Hsiao-Ling; Chiang, Yueh-Tao; Moons, Philip

    2015-06-01

    Due to medical advances, most children with congenital heart disease (CHD) are expected to survive into adulthood. Establishing adequate physical self-concept and cardiopulmonary tolerance during the adolescent period can primarily enhance overall well-being. The purpose of this study was to undertake a gender-specific evaluation of the domain of physical self-concept among adolescents with mild CHD, and to examine the relationships between physical self-concept and cardiopulmonary exercise tolerance among adolescents with mild CHD. Four hundred and thirteen adolescents 12-20 years of age, whose cardiologists had not recommended any limitation of exercise, completed Physical Self-Description Questionnaires and three-minute step tests in two outpatient cardiology departments. The male participants had significantly greater scores in measures of overall physical self-concept, competence in sports, physical appearance, body fat, physical activity, endurance, and strength than did the female participants. More than 80% of the participants had at least an average cardiopulmonary exercise tolerance index. The perception of not being 'too fat' and being more physically active were significant correlates of better cardiopulmonary exercise tolerance for adolescents with mild CHD. The results provided evidence for gender-specific evaluation of domains of physical self-concept among adolescents with mild CHD. The three-minute step test to measure cardiopulmonary exercise tolerance in adolescents with mild CHD may be an appropriate objective measure for use in future research. Continued efforts are needed in early intervention to promote cardiopulmonary exercise tolerance. © The European Society of Cardiology 2014.

  4. The association of metabolic syndrome and Chlamydia pneumoniae, Helicobacter pylori, cytomegalovirus, and herpes simplex virus type 1: The Persian Gulf Healthy Heart Study

    Directory of Open Access Journals (Sweden)

    Pazoki Raha

    2006-12-01

    Full Text Available Abstract Background The metabolic syndrome together with insulin resistance and their consequences are basic factors in pathogenesis of atherosclerosis. Chronic infections with herpes simplex virus type 1 (HSV-1, cytomegalovirus (CMV, and Chlamydia pneumoniae are associated with the development of atherosclerosis and coronary heart disease. The infectious aspects of metabolic syndrome have not been investigated. Methods In a cross-sectional, population-based study, we used National Cholesterol Education Program (NCEP-Adult Treatment Panel (ATP-III criteria in 1791 subjects, aged 25 years and over, selected by cluster random sampling in three Iranian ports in the northern Persian Gulf. Sera were analyzed for IgG antibodies to Chlamydia pneumoniae, HSV-1, Helicobacter pylori (H. pylori and CMV using ELISA. Results In multiple logistic regression analysis, of the infectious agents, CMV [OR = 1.81 (1.05–3.10; p = 0.03], H. pylori [OR = 1.50 (1.12–2.00; p = 0.007] and Chlamydia pneumoniae [OR = 1.69 (1.27–2.25; p Conclusion The metabolic syndrome, which occurs very frequently in the general population, has a significant association with prior infection with Chlamydia pneumoniae, Helicobacter pylori, cytomegalovirus and herpes simplex virus type 1. Hypothesis about participation of infection in pathogenesis of metabolic syndrome should be investigated.

  5. Harmonizing the metabolic syndrome: a joint interim statement of the International Diabetes Federation Task Force on Epidemiology and Prevention; National Heart, Lung, and Blood Institute; American Heart Association; World Heart Federation; International Atherosclerosis Society; and International Association for the Study of Obesity.

    Science.gov (United States)

    Alberti, K G M M; Eckel, Robert H; Grundy, Scott M; Zimmet, Paul Z; Cleeman, James I; Donato, Karen A; Fruchart, Jean-Charles; James, W Philip T; Loria, Catherine M; Smith, Sidney C

    2009-10-20

    A cluster of risk factors for cardiovascular disease and type 2 diabetes mellitus, which occur together more often than by chance alone, have become known as the metabolic syndrome. The risk factors include raised blood pressure, dyslipidemia (raised triglycerides and lowered high-density lipoprotein cholesterol), raised fasting glucose, and central obesity. Various diagnostic criteria have been proposed by different organizations over the past decade. Most recently, these have come from the International Diabetes Federation and the American Heart Association/National Heart, Lung, and Blood Institute. The main difference concerns the measure for central obesity, with this being an obligatory component in the International Diabetes Federation definition, lower than in the American Heart Association/National Heart, Lung, and Blood Institute criteria, and ethnic specific. The present article represents the outcome of a meeting between several major organizations in an attempt to unify criteria. It was agreed that there should not be an obligatory component, but that waist measurement would continue to be a useful preliminary screening tool. Three abnormal findings out of 5 would qualify a person for the metabolic syndrome. A single set of cut points would be used for all components except waist circumference, for which further work is required. In the interim, national or regional cut points for waist circumference can be used.

  6. Frank-ter Haar syndrome--additional findings?

    Science.gov (United States)

    Köse, Taha Emre; İşler, Cemil; Şenel, Ş Neslihan; Şitilci, Tolga; Özcan, İlknur; Aksakallı, Nihan

    2016-01-01

    Frank-ter Haar syndrome is a genetic disease that is transmitted by autosomal recessive pattern with characteristic features such as megalocornea or glaucoma, a prominent coccyx, heart defects, developmental delays, brachycephaly, a wide anterior fontanel, finger flexion deformities, full cheeks and micrognathia. Dentomaxillofacial features of this syndrome are not well documented in the literature. We present of a 21-year-old male with Frank-ter Haar syndrome and some features that may be linked with this syndrome not reported before in the literature.

  7. Reliability of the CARE rule and the HEART score to rule out an acute coronary syndrome in non-traumatic chest pain patients.

    Science.gov (United States)

    Moumneh, Thomas; Richard-Jourjon, Vanessa; Friou, Emilie; Prunier, Fabrice; Soulie-Chavignon, Caroline; Choukroun, Jacques; Mazet-Guilaumé, Betty; Riou, Jérémie; Penaloza, Andréa; Roy, Pierre-Marie

    2018-03-02

    In patients consulting in the Emergency Department for chest pain, a HEART score ≤ 3 has been shown to rule out an acute coronary syndrome (ACS) with a low risk of major adverse cardiac event (MACE) occurrence. A negative CARE rule (≤ 1) that stands for the first four elements of the HEART score may have similar rule-out reliability without troponin assay requirement. We aim to prospectively assess the performance of the CARE rule and of the HEART score to predict MACE in a chest pain population. Prospective two-center non-interventional study. Patients admitted to the ED for non-traumatic chest pain were included, and followed-up at 6 weeks. The main study endpoint was the 6-week rate of MACE (myocardial infarction, coronary angioplasty, coronary bypass, and sudden unexplained death). 641 patients were included, of whom 9.5% presented a MACE at 6 weeks. The CARE rule was negative for 31.2% of patients, and none presented a MACE during follow-up [0, 95% confidence interval: (0.0-1.9)]. The HEART score was ≤ 3 for 63.0% of patients, and none presented a MACE during follow-up [0% (0.0-0.9)]. With an incidence below 2% in the negative group, the CARE rule seemed able to safely rule out a MACE without any biological test for one-third of patients with chest pain and the HEART score for another third with a single troponin assay.

  8. Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

    Science.gov (United States)

    Khan, Arif O; Aldahmesh, Mohammed A; Mohamed, Jawahir Y; Alkuraya, Fowzan S

    2012-06-01

    To correlate clinical examination with underlying genotype in asymptomatic females who are potential carriers of X-linked developmental cataract (Nance-Horan syndrome). An ophthalmologist blind to the pedigree performed comprehensive ophthalmic examination for 16 available family members (two affected and six asymptomatic females, five affected and three asymptomatic males). Facial features were also noted. Venous blood was collected for sequencing of the gene NHS. All seven affected family members had congenital or infantile cataract and facial dysmorphism (long face, bulbous nose, abnormal dentition). The six asymptomatic females ranged in age from 4-35 years old. Four had posterior Y-suture centered lens opacities; these four also exhibited the facial dysmorphism of the seven affected family members. The fifth asymptomatic girl had scattered fine punctate lens opacities (not centered on the Y-suture) while the sixth had clear lenses, and neither exhibited the facial dysmorphism. A novel NHS mutation (p.Lys744AsnfsX15 [c.2232delG]) was found in the seven patients with congenital or infantile cataract. This mutation was also present in the four asymptomatic girls with Y-centered lens opacities but not in the other two asymptomatic girls or in the three asymptomatic males (who had clear lenses). Lens opacities centered around the posterior Y-suture in the context of certain facial features were sensitive and specific clinical signs of carrier status for NHS mutation in asymptomatic females. Lens opacities that did not have this characteristic morphology in a suspected female carrier were not a carrier sign, even in the context of her affected family members.

  9. Possible Link Between Stress-related Factors and Altered Body Composition in Women with Polycystic Ovarian Syndrome.

    Science.gov (United States)

    Basu, Barnali Ray; Chowdhury, Olivia; Saha, Sudip Kumar

    2018-01-01

    Stress is an invisible factor affecting modern day living and is strongly associated with many disease pathogenesis including polycystic ovarian syndrome (PCOS) in women. PCOS is the most frequent endocrinological disorder that affects women of reproductive age, leading to metabolic dysfunction and body composition alterations. Salivary amylase and cortisol are major stress mediators that have been implicated in PCOS. However, their role in altering body composition in PCOS is yet to be deciphered. The present study aimed at understanding the relation between stress-associated factors and alterations in body composition among PCOS patients. This study enrolled a total of 100 patients (PCOS) and 60 age-matched controls. The female patients were of ages between 13 and 30 years. Standard assay kits were used to evaluate the α-amylase activity and cortisol level in saliva. The participants were chosen on the basis of the Rotterdam American Society for Reproductive Medicine/European Society of Human Reproduction criteria. Saliva was collected from each participant as per the protocol of Salimetrics, USA. Statistical analysis was performed using SPSS version 20 for Windows. The quantitative variables are described as mean ± standard deviation. P stress scenario in their system. Moreover, overweight PCOS participants reflected higher amylase activity than the lean patients participants. Pulse rate, body mass index (BMI), visceral adiposity, and waist-hip ratio (WHR) was considerably higher in the PCOS patients participants compared to controls. A significant correlation could be drawn between the α-amylase activity and BMI or WHR, respectively, among PCOS patients. These observations indicate a strong link between the stress marker and alterations in the body composition parameters of PCOS patients participants. Higher prevalence of stress in PCOS patients participants has a critical role in their altered body composition.

  10. The quality of hospital work environments and missed nursing care is linked to heart failure readmissions: a cross-sectional study of US hospitals

    Science.gov (United States)

    Carthon, J Margo Brooks; Lasater, Karen B; Sloane, Douglas M; Kutney-Lee, Ann

    2015-01-01

    Introduction Threats to quality and patient safety may exist when necessary nursing care is omitted. Empirical research is needed to determine how missed nursing care is associated with patient outcomes. Aim The aim of this study was to examine the relationship between missed nursing care and hospital readmissions. Methods Cross-sectional examination, using three linked data sources—(1) nurse survey, (2) patient discharge data from three states (California, New Jersey and Pennsylvania) and (3) administrative hospital data— from 2005 to 2006. We explored the incidence of 30-day readmission for 160 930 patients with heart failure in 419 acute care hospitals in the USA. Logistic regression was used to assess the effect of missed care on the odds of readmission, adjusting for patient and hospital characteristics. Results The most frequently missed nursing care activities across all hospitals in our sample included talking to and comforting patients (42.0%), developing and updating care plans (35.8%) and educating patients and families (31.5%). For 4 of the 10 studied care activities, each 10 percentage-point increase in the number of nurses reporting having missed the activity was associated with an increase in the odds of readmission by 2–8% after adjusting for patient and hospital characteristics. However, missed nursing care was no longer a significant predictor of readmission once adjusting for the nurse work environment, except in the case of the delivery of treatments and procedures (OR 1.08, 95% CI 1.02 to 1.14). Conclusions Missed care is an independent predictor of heart failure readmissions. However, once adjusting for the quality of the nurse work environment, this relationship is attenuated. Improvements in nurses’ working conditions may be one strategy to reduce care omissions and improve patient outcomes. PMID:25672342

  11. Wernekink Commissure Syndrome Secondary to Bilateral Caudal Paramedian Midbrain Infarction Presenting with a Unique “Heart or V” Appearance Sign: Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Chenguang Zhou

    2017-08-01

    Full Text Available Wernekink commissure syndrome secondary to caudal paramedian midbrain infarction (CPMI is a rare midbrain syndrome involving the decussation of the superior cerebellar peduncle in the caudal paramedian midbrain tegmentum. The central characteristics are constant bilateral cerebellar dysfunction, variable eye movement disorders, and rare delayed palatal myoclonus. Following is a description of the case of a 60-year-old man who presented with dizziness, slurred speech, and difficulty walking. Neurological examination revealed bilateral cerebellar dysfunction and bilateral internuclear ophthalmoplegia (bilateral INO. Serial magnetic resonance imaging (MRI revealed a lesion in the caudal paramedian midbrain with a “heart-shaped” sign on fluid-attenuation inversion recovery images and a “V-shaped” appearance on diffusion-weighted imaging (DWI. An acute CPMI with a “heart or V” appearance sign was diagnosed. Upon follow-up evaluation 3 months later, a palatal tremor accompanied by involuntary head tremor was discovered. Hypertrophy and increased signal of the bilateral inferior olivary nucleus, compatible with hypertropic olivary degeneration (HOD were revealed during a subsequent MRI study.

  12. Heart rate at discharge and long-term prognosis following percutaneous coronary intervention in stable and acute coronary syndromes--results from the BASKET PROVE trial.

    Science.gov (United States)

    Jensen, Magnus Thorsten; Kaiser, Christoph; Sandsten, Karl Erik; Alber, Hannes; Wanitschek, Maria; Iversen, Allan; Jensen, Jan Skov; Pedersen, Sune; Soerensen, Rikke; Rickli, Hans; Zurek, Marzena; Fahrni, Gregor; Bertel, Osmund; De Servi, Stefano; Erne, Paul; Pfisterer, Matthias; Galatius, Søren

    2013-10-09

    Elevated heart rate (HR) is associated with mortality in a number of heart diseases. We examined the long-term prognostic significance of HR at discharge in a contemporary population of patients with stable angina (SAP), non-ST-segment elevation acute coronary syndromes (NSTE-ACS), and ST-segment elevation myocardial infarction (STEMI) revascularized with percutaneous coronary intervention (PCI). Patients from the BASKET-PROVE trial, an 11-center randomized all-comers trial comparing bare-metal and drug-eluting stenting in large coronary vessels, were included. Discharge HR was determined from a resting ECG. Long-term outcomes (7 days to 2 years) were evaluated for all-cause mortality and cardiovascular death and non-fatal myocardial infarction. A total of 2029 patients with sinus rhythm were included, 722 (35.6%) SAP, 647 (31.9%) NSTE-ACS, and 660 (32.5%) STEMI. Elevated discharge HR was associated significantly with all-cause mortality: when compared to a reference of 90 bpm. For cardiovascular death/myocardial infarction, a discharge HR >90 bpm was associated with a hazard ratio of 6.2 (2.5-15.5, pacute coronary syndromes an elevated discharge HR was independently associated with poor prognosis. Conversely, a HR <60 bpm at discharge was associated with a good long-term prognosis irrespective of indication for PCI. © 2013.

  13. Trends, causes and timing of 30-day readmissions after hospitalization for heart failure: 11-year population-based analysis with linked data.

    Science.gov (United States)

    Fernandez-Gasso, Lucía; Hernando-Arizaleta, Lauro; Palomar-Rodríguez, Joaquín A; Abellán-Pérez, M Victoria; Pascual-Figal, Domingo A

    2017-12-01

    Reliable data are necessary if the burden of early readmissions following hospitalization for heart failure (HF) is to be addressed. We studied unplanned 30-day readmissions, their causes and timing over an 11-year period, using population-based linked data. All hospitalizations from 2003 to 2013 were analyzed by using administrative linked data based on the Minimum Basic Set discharge registry of the Department of Health (Region of Murcia, Spain). Index hospitalizations with HF as principal diagnosis (n=27,581) were identified. Transfers between centers were merged into one discharge. Readmissions were defined as unplanned admissions to any hospital within 30-days after discharge. In the 2003-2013 period, 30-day readmission rates had a relative mean annual growth of +1.36%, increasing from 17.6% to 22.1%, with similar trends for cardiovascular and non-cardiovascular causes. The figure of 22.1% decreased to 19.8% when only same-hospital readmissions were considered. Most readmissions were due to cardiovascular causes (60%), HF being the most common single cause (34%). The timing of readmission shows an early peak on the fourth day post discharge (+13.29%) due to causes other than HF, followed by a gradual decline (-3.32%); readmission for HF decreased steadily from the first day (-2.22%). Readmission for HF (12.7%) or non-cardiovascular causes (13.3%) had higher in-hospital mortality rates than the index hospitalization (9.2%, p<0.001). Age and comorbidity burden were the main predictors of any readmission, but the performance of a predictive model was poor. These findings support the need for population-based strategies to reduce the burden of early-unplanned readmissions. Copyright © 2017 Elsevier B.V. All rights reserved.

  14. Genetics Home Reference: Duane-radial ray syndrome

    Science.gov (United States)

    ... it appears to be important for the normal development of the eyes, heart, and limbs. Mutations in the SALL4 gene prevent cells from ... Additional Information & Resources MedlinePlus (3 links) Encyclopedia: ... Human Genome Research Institute: Duane Syndrome Educational Resources (5 ...

  15. Heart Health - Brave Heart

    Science.gov (United States)

    ... Bar Home Current Issue Past Issues Cover Story Heart Health Brave Heart Past Issues / Winter 2009 Table of Contents For ... you can have a good life after a heart attack." Lifestyle Changes Surviving—and thriving—after such ...

  16. Possible link between stress-related factors and altered body composition in women with polycystic ovarian syndrome

    Directory of Open Access Journals (Sweden)

    Barnali Ray Basu

    2018-01-01

    Full Text Available Background: Stress is an invisible factor affecting modern day living and is strongly associated with many disease pathogenesis including polycystic ovarian syndrome (PCOS in women. PCOS is the most frequent endocrinological disorder that affects women of reproductive age, leading to metabolic dysfunction and body composition alterations. Salivary amylase and cortisol are major stress mediators that have been implicated in PCOS. However, their role in altering body composition in PCOS is yet to be deciphered. Aim: The present study aimed at understanding the relation between stress-associated factors and alterations in body composition among PCOS patients. Design: This study enrolled a total of 100 patients (PCOS and 60 age-matched controls. The female patients were of ages between 13 and 30 years. Materials and Methods: Standard assay kits were used to evaluate the α-amylase activity and cortisol level in saliva. The participants were chosen on the basis of the Rotterdam American Society for Reproductive Medicine/European Society of Human Reproduction criteria. Saliva was collected from each participant as per the protocol of Salimetrics, USA. Statistical Analysis: Statistical analysis was performed using SPSS version 20 for Windows. The quantitative variables are described as mean ± standard deviation. P < 0.05 was considered significant. Results: Increased salivary cortisol level and α-amylase activity were seen in the PCOS population as compared to age-matched controls suggesting patients a sustained stress scenario in their system. Moreover, overweight PCOS participants reflected higher amylase activity than the lean patients participants. Pulse rate, body mass index (BMI, visceral adiposity, and waist-hip ratio (WHR was considerably higher in the PCOS patients participants compared to controls. A significant correlation could be drawn between the α-amylase activity and BMI or WHR, respectively, among PCOS patients. These observations

  17. Increased vulnerability of human ventricle to re-entrant excitation in hERG-linked variant 1 short QT syndrome.

    Directory of Open Access Journals (Sweden)

    Ismail Adeniran

    2011-12-01

    Full Text Available The short QT syndrome (SQTS is a genetically heterogeneous condition characterized by abbreviated QT intervals and an increased susceptibility to arrhythmia and sudden death. This simulation study identifies arrhythmogenic mechanisms in the rapid-delayed rectifier K(+ current (I(Kr-linked SQT1 variant of the SQTS. Markov chain (MC models were found to be superior to Hodgkin-Huxley (HH models in reproducing experimental data regarding effects of the N588K mutation on KCNH2-encoded hERG. These ionic channel models were then incorporated into human ventricular action potential (AP models and into 1D and 2D idealised and realistic transmural ventricular tissue simulations and into a 3D anatomical model. In single cell models, the N588K mutation abbreviated ventricular cell AP duration at 90% repolarization (APD(90 and decreased the maximal transmural voltage heterogeneity (δV during APs. This resulted in decreased transmural heterogeneity of APD(90 and of the effective refractory period (ERP: effects that are anticipated to be anti-arrhythmic rather than pro-arrhythmic. However, with consideration of transmural heterogeneity of I(Kr density in the intact tissue model based on the ten Tusscher-Noble-Noble-Panfilov ventricular model, not only did the N588K mutation lead to QT-shortening and increases in T-wave amplitude, but δV was found to be augmented in some local regions of ventricle tissue, resulting in increased tissue vulnerability for uni-directional conduction block and predisposing to formation of re-entrant excitation waves. In 2D and 3D tissue models, the N588K mutation facilitated and maintained re-entrant excitation waves due to the reduced substrate size necessary for sustaining re-entry. Thus, in SQT1 the N588K-hERG mutation facilitates initiation and maintenance of ventricular re-entry, increasing the lifespan of re-entrant spiral waves and the stability of scroll waves in 3D tissue.

  18. Klippel – Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature

    Directory of Open Access Journals (Sweden)

    Ramush Bejiqi

    2015-03-01

    Since first classification from Feil in three categories (I – III other classification systems have been advocated to describe the anomalies, predict the potential problems, and guide treatment decisions. Patients with Klippel-Feil syndrome usually present with the disease during childhood, but may present later in life. The challenge to the clinician is to recognize the associated anomalies that can occur with Klippel-Feil syndrome and to perform the appropriate workup for diagnosis.

  19. Klippel – Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature

    OpenAIRE

    Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana; Zeka, Naim

    2015-01-01

    First time described in 1912, from Maurice Klippel and Andre Feil independently, Klippel-Feil syndrome (synonyms: cervical vertebra fusion syndrome, Klippel-Feil deformity, Klippel-Feil sequence disorder) is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back ...

  20. Genetics Home Reference: Cockayne syndrome

    Science.gov (United States)

    ... Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some ... link) National Institute of Neurological Disorders and Stroke: Cerebro-Oculo-Facio-Skeletal Syndrome Educational Resources (8 links) ...

  1. Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS).

    Science.gov (United States)

    Kuebler, Bernd; Aran, Begoña; Miquel-Serra, Laia; Muñoz, Yolanda; Ars, Elisabet; Bullich, Gemma; Furlano, Monica; Torra, Roser; Marti, Merce; Veiga, Anna; Raya, Angel

    2017-12-01

    Skin biopsies were obtained from two male patients with X-linked Alport syndrome (XLAS) with hemizygous COL4A5 mutations in exon 41 or exon 46. Dermal fibroblasts were extracted and reprogrammed by nucleofection with episomal plasmids carrying OCT3/4, SOX2, KLF4 LIN28, L-MYC and p53 shRNA. The generated induced Pluripotent Stem Cell (iPSC) lines AS-FiPS2-Ep6F-28 and AS-FiPS3-Ep6F-9 were free of genomically integrated reprogramming genes, had the specific mutations, a stable karyotype, expressed pluripotency markers and generated embryoid bodies which were differentiated towards the three germ layers in vitro. These iPSC lines offer a useful resource to study Alport syndrome pathomechanisms and drug testing. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

  2. Noonan syndrome

    OpenAIRE

    Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

    2013-01-01

    Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid ris...

  3. Acute Coronary Syndrome

    Science.gov (United States)

    ... heart cells are dying. An electrocardiogram (ECG or EKG) can diagnose an acute coronary syndrome by measuring ... Privacy Policy Popular Articles 1 Understanding Blood Pressure Readings 2 Sodium and Salt 3 Heart Attack Symptoms ...

  4. Embryonic Stem Cell Therapy of Heart Failure in Genetic Cardiomyopathy

    OpenAIRE

    Yamada, Satsuki; Nelson, Timothy J.; Crespo-Diaz, Ruben J.; Perez-Terzic, Carmen; Liu, Xiao-Ke; Miki, Takashi; Seino, Susumu; Behfar, Atta; Terzic, Andre

    2008-01-01

    Pathogenic causes underlying nonischemic cardiomyopathies are increasingly being resolved, yet repair therapies for these commonly heritable forms of heart failure are lacking. A case in point is human dilated cardiomyopathy 10 (CMD10; Online Mendelian Inheritance in Man #608569), a progressive organ dysfunction syndrome refractory to conventional therapies and linked to mutations in cardiac ATP-sensitive K+ (KATP) channel sub-units. Embryonic stem cell therapy demonstrates benefit in ischemi...

  5. The Metabolic Syndrome and Risk of Sudden Cardiac Death: The Atherosclerosis Risk in Communities Study.

    Science.gov (United States)

    Hess, Paul L; Al-Khalidi, Hussein R; Friedman, Daniel J; Mulder, Hillary; Kucharska-Newton, Anna; Rosamond, Wayne R; Lopes, Renato D; Gersh, Bernard J; Mark, Daniel B; Curtis, Lesley H; Post, Wendy S; Prineas, Ronald J; Sotoodehnia, Nona; Al-Khatib, Sana M

    2017-08-23

    Prior studies have demonstrated a link between the metabolic syndrome and increased risk of cardiovascular mortality. Whether the metabolic syndrome is associated with sudden cardiac death is uncertain. We characterized the relationship between sudden cardiac death and metabolic syndrome status among participants of the ARIC (Atherosclerosis Risk in Communities) Study (1987-2012) free of prevalent coronary heart disease or heart failure. Among 13 168 participants, 357 (2.7%) sudden cardiac deaths occurred during a median follow-up of 23.6 years. Participants with the metabolic syndrome (n=4444) had a higher cumulative incidence of sudden cardiac death than those without it (n=8724) (4.1% versus 2.3%, P metabolic syndrome, the metabolic syndrome was independently associated with sudden cardiac death (hazard ratio, 1.70, 95% confidence interval, 1.37-2.12, P metabolic syndrome criteria components. The risk of sudden cardiac death varied according to the number of metabolic syndrome components (hazard ratio 1.31 per additional component of the metabolic syndrome, 95% confidence interval, 1.19-1.44, P metabolic syndrome was associated with a significantly increased risk of sudden cardiac death irrespective of sex or race. The risk of sudden cardiac death was proportional to the number of metabolic syndrome components. © 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.

  6. Klippel – Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature

    Science.gov (United States)

    Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana; Zeka, Naim

    2015-01-01

    First time described in 1912, from Maurice Klippel and Andre Feil independently, Klippel-Feil syndrome (synonyms: cervical vertebra fusion syndrome, Klippel-Feil deformity, Klippel-Feil sequence disorder) is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition. Since first classification from Feil in three categories (I – III) other classification systems have been advocated to describe the anomalies, predict the potential problems, and guide treatment decisions. Patients with Klippel-Feil syndrome usually present with the disease during childhood, but may present later in life. The challenge to the clinician is to recognize the associated anomalies that can occur with Klippel-Feil syndrome and to perform the appropriate workup for diagnosis. PMID:27275209

  7. Serial changes in anatomy and ventricular function on dual-source cardiac computed tomography after the Norwood procedure for hypoplastic left heart syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Goo, Hyun Woo [University of Ulsan College of Medicine, Asan Medical Center, Department of Radiology and Research Institute of Radiology, Seoul (Korea, Republic of)

    2017-12-15

    Accurate evaluation of anatomy and ventricular function after the Norwood procedure in hypoplastic left heart syndrome is important for treatment planning and prognostication, but echocardiography and cardiac MRI have limitations. To assess serial changes in anatomy and ventricular function on dual-source cardiac CT after the Norwood procedure for hypoplastic left heart syndrome. In 14 consecutive patients with hypoplastic left heart syndrome, end-systolic and end-diastolic phase cardiac dual-source CT was performed before and early (average: 1 month) after the Norwood procedure, and repeated late (median: 4.5 months) after the Norwood procedure in six patients. Ventricular functional parameters and indexed morphological measurements including pulmonary artery size, right ventricular free wall thickness, and ascending aorta size on cardiac CT were compared between different time points. Moreover, morphological features including ventricular septal defect, endocardial fibroelastosis and coronary ventricular communication were evaluated on cardiac CT. Right ventricular function and volumes remained unchanged (indexed end-systolic and end-diastolic volumes: 38.9±14.0 vs. 41.1±21.5 ml/m{sup 2}, P=0.7 and 99.5±30.5 vs. 105.1±33.0 ml/m{sup 2}, P=0.6; ejection fraction: 60.1±7.3 vs. 63.8±7.0%, P=0.1, and indexed stroke volume: 60.7±18.0 vs. 64.0±15.6 ml/m{sup 2}, P=0.5) early after the Norwood procedure, but function was decreased (ejection fraction: 64.2±2.6 vs. 58.1±7.1%, P=0.01) and volume was increased (indexed end-systolic and end-diastolic volumes: 39.2±14.9 vs. 68.9±20.6 ml/m{sup 2}, P<0.003 and 107.8±36.5 vs. 162.9±36.2 ml/m{sup 2}, P<0.006, and indexed stroke volume: 68.6±21.7 vs. 94.0±21.3 ml/m{sup 2}, P=0.02) later. Branch pulmonary artery size showed a gradual decrease without asymmetry after the Norwood procedure. Right and left pulmonary artery stenoses were identified in 21.4% (3/14) of the patients. Indexed right ventricular free wall

  8. Congenital Heart Defects and CCHD

    Science.gov (United States)

    ... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Congenital heart defects and ... in congenital heart defects. You have a family history of congenital heart ... syndrome or VCF. After birth Your baby may be tested for CCHD as ...

  9. Carcinoid heart disease.

    Science.gov (United States)

    Hassan, Saamir A; Banchs, Jose; Iliescu, Cezar; Dasari, Arvind; Lopez-Mattei, Juan; Yusuf, Syed Wamique

    2017-10-01

    Rare neuroendocrine tumours (NETs) that most commonly arise in the gastrointestinal tract can lead to carcinoid syndrome and carcinoid heart disease. Patients with carcinoid syndrome present with vasomotor changes, hypermotility of the gastrointestinal system, hypotension and bronchospasm. Medical therapy for carcinoid syndrome, typically with somatostatin analogues, can help control symptoms, inhibit tumour progression and prolong survival. Carcinoid heart disease occurs in more than 50% of these patients and is the initial presentation of carcinoid syndrome in up to 20% of patients. Carcinoid heart disease has characteristic findings of plaque-like deposits composed of smooth muscle cells, myofibroblasts, extracellular matrix and an overlying endothelial layer which can lead to valve dysfunction. Valvular dysfunction can lead to oedema, ascites and right-sided heart failure. Medical therapy of carcinoid heart disease is limited to symptom control and palliation. Valve surgery for carcinoid heart disease should be considered for symptomatic patients with controlled metastatic carcinoid syndrome. A multidisciplinary approach is needed to guide optimal management. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  10. Polycystic Ovary Syndrome

    Science.gov (United States)

    Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. PCOS causes cysts ( ... PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. PCOS is ...

  11. Heart MRI

    Science.gov (United States)

    Magnetic resonance imaging - cardiac; Magnetic resonance imaging - heart; Nuclear magnetic resonance - cardiac; NMR - cardiac; MRI of the heart; Cardiomyopathy - MRI; Heart failure - MRI; Congenital heart disease - MRI

  12. Ultra high-resolution gene centric genomic structural analysis of a non-syndromic congenital heart defect, Tetralogy of Fallot.

    Directory of Open Access Journals (Sweden)

    Douglas C Bittel

    Full Text Available Tetralogy of Fallot (TOF is one of the most common severe congenital heart malformations. Great progress has been made in identifying key genes that regulate heart development, yet approximately 70% of TOF cases are sporadic and nonsyndromic with no known genetic cause. We created an ultra high-resolution gene centric comparative genomic hybridization (gcCGH microarray based on 591 genes with a validated association with cardiovascular development or function. We used our gcCGH array to analyze the genomic structure of 34 infants with sporadic TOF without a deletion on chromosome 22q11.2 (n male = 20; n female = 14; age range of 2 to 10 months. Using our custom-made gcCGH microarray platform, we identified a total of 613 copy number variations (CNVs ranging in size from 78 base pairs to 19.5 Mb. We identified 16 subjects with 33 CNVs that contained 13 different genes which are known to be directly associated with heart development. Additionally, there were 79 genes from the broader list of genes that were partially or completely contained in a CNV. All 34 individuals examined had at least one CNV involving these 79 genes. Furthermore, we had available whole genome exon arrays from right ventricular tissue in 13 of our subjects. We analyzed these for correlations between copy number and gene expression level. Surprisingly, we could detect only one clear association between CNVs and expression (GSTT1 for any of the 591 focal genes on the gcCGH array. The expression levels of GSTT1 were correlated with copy number in all cases examined (r = 0.95, p = 0.001. We identified a large number of small CNVs in genes with varying associations with heart development. Our results illustrate the complexity of human genome structural variation and underscore the need for multifactorial assessment of potential genetic/genomic factors that contribute to congenital heart defects.

  13. An essential role of intestinal cell kinase in lung development is linked to the perinatal lethality of human ECO syndrome

    Science.gov (United States)

    Tong, Yixin; Park, So Hyun; Wu, Di; Xu, Wenhao; Guillot, Stacey J.; Jin, Li; Li, Xudong; Wang, Yalin; Lin, Chyuan-Sheng; Fu, Zheng

    2017-01-01

    Human endocrine-cerebro-osteodysplasia (ECO) syndrome, caused by the loss-of-function mutation R272Q in the ICK (intestinal cell kinase) gene, is a neonatal-lethal developmental disorder. To elucidate the molecular basis of ECO syndrome, we constructed an Ick R272Q knock-in mouse model that recapitulates ECO pathological phenotypes. Newborns bearing Ick R272Q homozygous mutations die at birth due to respiratory distress. Ick mutant lungs exhibit not only impaired branching morphogenesis associated with reduced mesenchymal proliferation, but also significant airspace deficiency in primitive alveoli concomitant with abnormal interstitial mesenchymal differentiation. ICK dysfunction induces elongated primary cilia and perturbs ciliary Hedgehog signaling and autophagy during lung sacculation. Our study identifies an essential role for ICK in lung development and advances the mechanistic understanding of ECO syndrome. PMID:28380258

  14. Diabetes, Heart Disease, and Stroke

    Science.gov (United States)

    ... Disease, & Other Dental Problems Diabetes, Sexual, & Bladder Problems Diabetes, Heart Disease, and Stroke Having diabetes means that ... help to stop. What is the link between diabetes, heart disease, and stroke? Over time, high blood ...

  15. Dietary patterns associated with metabolic syndrome, sociodemographic and lifestyle factors in young adults: the Bogalusa Heart Study

    Science.gov (United States)

    Our objective was to examine the association between dietary patterns (DP) and risk for metabolic syndrome (MetS); and to identify differences in DP by socio-economic, demographic and lifestyle factors. Dietary intake (from an FFQ), anthropometric/biochemical parameters and sociodemographic/lifestyl...

  16. Chronic psychological stress seems associated with elements of the metabolic syndrome in patients with ischaemic heart disease

    DEFF Research Database (Denmark)

    Bergmann, Natasha; Ballegaard, Søren; Krogh, Jesper

    2017-01-01

    at the sternum known to be associated to elements of the chronic stress syndrome. Elements of MS were evaluated by dual-energy X-ray absorptiometry, body weight, HOMA-IR and blood lipids. Results: Depressive symptoms were associated with a high percentage of body fat (β = 0.179, p =.001), and high level...

  17. Dietary therapy in heart failure with preserved ejection fraction and/or left ventricular diastolic dysfunction in patients with metabolic syndrome.

    Science.gov (United States)

    von Bibra, Helene; Ströhle, Alexander; St John Sutton, Martin; Worm, Nicolai

    2017-05-01

    Heart failure is an ongoing epidemic of left ventricular (LV) dilatation and/or dysfunction due to the increasing prevalence of predisposing risk factors such as age, physical inactivity, (abdominal) obesity, and type-2-diabetes. Approximately half of these patients have diastolic heart failure (HFpEF). The prognosis of HFpEF is comparable to that of systolic heart failure, but without any known effective treatment. A biomathematically corrected diagnostic approach is presented that quantifies diastolic dysfunction via the predominant age dependency of LV diastolic function and unmasks (metabolic) risk factors, that are independent of age and, therefore, potential targets for therapy. Patients with HFpEF have reduced cardiac energy reserve that is frequently caused by insulin resistance. Consequently, HFpEF and/or LV diastolic dysfunction may be regarded as a cardiac manifestation of the metabolic syndrome (MetS). Accordingly, a causal therapy for metabolically induced dysfunction aims at normalizing insulin sensitivity by improving postprandial glucose and lipid metabolism. The respective treatments include 1) weight loss induced by dietary energy restriction that is often not sustained long-term and 2) independent of weight loss, focus on carbohydrate modification in exchange for an increase in protein and fat, ideally combined with an aerobic exercise program. Hence, beneficial effects of different macronutrient compositions in the dietary therapy of the underlying MetS are discussed together with the most recently available publications and meta-analyses. Modulation/restriction of carbohydrate intake normalizes postprandial hyperglycemic and insulinemic peaks and has been shown to improve all manifestations of the MetS and also to reduce cardiovascular risk. Copyright © 2017 Elsevier B.V. All rights reserved.

  18. E valuation and clinical significance of serum C-reactive protein and homocysteine level in obstructive sleep apnea/hypopnea syndrome complicated with coronary heart disease patients

    International Nuclear Information System (INIS)

    Su Yingrui; Zha Jinshun; Xu Chaoxiang; Chen Xiaoyang; Wang Yaoguo; Du Xinqing

    2011-01-01

    Objective: To explore the relationship between homocysteine (HCY) and C-reactive protein (CRP) in obstructive sleep apnea/hypopnea syndrome (OSAHS) patients and OSAHS patients complicated with coronary heart disease by detecting the scrum level of HCY and CRP on the mechanism of OSAHS complicated with coronary heart disease. Methods: Ninety-one patients were divided into three groups, 30 patients as control group, 36 patients as OSAHS group, and 25 patients as OSAHS complicated with CHD group. Serum HCY level was detected through chemiluminescence. Serum CRP level was detected through radioimmunity. The serum level of HCY and CRP was compared among these groups. OSAHS patients were divided into mild OSAHS subgroup, moderate OSAHS subgroup and severe OSAHS subgroup. The morbidity rate of CHD and the serum level of HCY and CRP were compared among these subgroups. Meanwhile the parameters of polysomnogram such as activity apnea-hypopnea index (AHI) and blood oxygen saturation (SaO 2 ) were compared between OSAHS group and OSAHS complicated with coronary heart disease group. Results: (1) There was significant difference among the serum level of HCY and CRP of control group, OSAHS group and OSAHS complicated with CHD group (F HCY =15.80, F CRP =19.21, P all HCY =4.74, t CRP =5.14, P all HCY =7.31, t CRP =8.17, P all 2 =6.96, χ 2 =4.18, P HCY =16.38, F CRP =12.97, P all 2 of OSAHS group and OSAHS complicated with CHD group (t AHI =5.46, percentage of SaO 2 2 : t=4.68, average lowest SaO 2 : t=3.65, longest duration of disordered breathing events: t=4.73, P all<0.01 ). Conclusion: The serum level of HCY and CRP rose because of hypoxia in OSAHS patients,and might play an important role in the mechanism of OSAHS complicated with CHD. (authors)

  19. Mass Media Campaigns' Influence on Prehospital Behavior for Acute Coronary Syndromes: An Evaluation of the Australian Heart Foundation's Warning Signs Campaign.

    Science.gov (United States)

    Bray, Janet E; Stub, Dion; Ngu, Philip; Cartledge, Susie; Straney, Lahn; Stewart, Michelle; Keech, Wendy; Patsamanis, Harry; Shaw, James; Finn, Judith

    2015-07-06

    The aim of this study was to examine the awareness of a recent mass media campaign, and its influence on knowledge and prehospital times, in a cohort of acute coronary syndrome (ACS) patients admitted to an Australian hospital. We conducted 199 semistructured interviews with consecutive ACS patients who were aged 35 to 75 years, competent to provide consent, and English speaking. Questions addressed the factors known to predict prehospital delay, awareness of the campaign, and whether it increased knowledge and influenced actions. Multivariable logistic regression was used to examine the association between campaign awareness and a 1-hour delay in deciding to seek medical attention (patient delay) and a 2-hour delay in presenting to hospital (prehospital delay). The median age was 62 years (IQR=53 to 68 years), and 68% (n=136) were male. Awareness of the campaign was reported by 127 (64%) patients, with most of these patients stating the campaign (1) increased their understanding of what is a heart attack (63%), (2) increased their awareness of the signs and symptoms of heart attack (68%), and (3) influenced their actions in response to symptoms (43%). After adjustment for other predictors, awareness of the campaign was significantly associated with patient delay time of ≤1 hour (adjusted odds ratio [AOR]=2.25, 95% CI: 1.03 to 4.91, P=0.04) and prehospital delay time ≤2 hours (AOR=3.11, 95% CI: 1.36 to 7.08, P=0.007). Our study showed reasonably high awareness of the warning signs campaign, which was significantly associated with shorter prehospital decision-making and faster presentation to hospital. © 2015 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  20. A heart-hand syndrome gene: Tfap2b plays a critical role in the development and remodeling of mouse ductus arteriosus and limb patterning.

    Directory of Open Access Journals (Sweden)

    Feng Zhao

    Full Text Available BACKGROUND: Patent ductus arteriosus (PDA is one of the most common forms of congenital heart disease. Mutations in transcription factor TFAP2B cause Char syndrome, a human disorder characterized by PDA, facial dysmorphysm and hand anomalies. Animal research data are needed to understand the mechanisms. The aim of our study was to elucidate the pathogenesis of Char syndrome at the molecular level. METHODOLOGY/PRINCIPAL FINDINGS: Gene expression of Tfap2b during mouse development was studied, and newborns of Tfap2b-deficient mice were examined to identify phenotypes. Gel shift assays had been carried out to search for Tfap2 downstream genes. Promoters of candidate genes were cloned into a reporter construct and used to demonstrate their regulation by Tfap2b in cell transfection. In situ hybridizations showed that the murine transcription factor Tfap2b was expressed during the entire development of mouse ductus arteriosus. Histological examination of ductus arteriosus from Tfap2b knockout mice 6 hours after birth revealed that they were not closed. Consequently, the lungs of Tfap2b(-/- mice demonstrated progressive congestion of the pulmonary capillaries, which was postulated to result secondarily from PDA. In addition, Tfap2b was expressed in the limb buds, particularly in the posterior limb field during development. Lack of Tfap2b resulted in bilateral postaxial accessory digits. Further study indicated that expressions of bone morphogenetic protein (Bmp genes, which are reported to be involved in the limb patterning and ductal development, were altered in limb buds of Tfap2b-deficient embryos, due to direct control of Bmp2 and Bmp4 promoter activity by Tfap2b. CONCLUSIONS/SIGNIFICANCE: Tfap2b plays important roles in the development of mouse ductus arteriosus and limb patterning. Loss of Tfap2b results in altered Bmp expression that may cause the heart-limb defects observed in Tfap2b mouse mutants and Char syndrome patients. The Tfap2b knockout

  1. FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.

    Science.gov (United States)

    Rajan-Babu, Indhu-Shree; Lian, Mulias; Cheah, Felicia S H; Chen, Min; Tan, Arnold S C; Prasath, Ethiraj B; Loh, Seong Feei; Chong, Samuel S

    2017-07-19

    Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome. This novel strategy utilises whole-genome amplification, followed by triplet-primed polymerase chain reaction (TP-PCR) for robust detection of expanded FMR1 alleles, in parallel with linked multi-marker haplotype analysis of 13 highly polymorphic microsatellite markers located within 1 Mb of the FMR1 CGG repeat, and the AMELX/Y dimorphism for gender identification. The assay was optimised and validated on single lymphoblasts isolated from fragile X reference cell lines, and applied to a simulated PGD case and a clinical in vitro fertilisation (IVF)-PGD case. In the simulated PGD case, definitive diagnosis of the expected results was achieved for all 'embryos'. In the clinical IVF-PGD case, delivery of a healthy baby girl was achieved after transfer of an expansion-negative blastocyst. FMR1 TP-PCR reliably detects presence of expansion mutations and obviates reliance on informative normal alleles for determining expansion status in female embryos. Together with multi-marker haplotyping and gender determination, misdiagnosis and diagnostic ambiguity due to allele dropout is minimised, and couple-specific assay customisation can be avoided.

  2. A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene

    DEFF Research Database (Denmark)

    Højlund, Kurt; Hansen, Torben; Lajer, Maria

    2004-01-01

    a missense mutation (Arg1174Gln) in the tyrosine kinase domain of the insulin receptor gene that cosegregated with the disease phenotype (logarithm of odds [LOD] score 3.21). In conclusion, we report a novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia. The findings demonstrate...

  3. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.

    NARCIS (Netherlands)

    Reiners, J.; Wijk, E. van; Marker, T.; Zimmermann, U.; Jurgens, K.; Brinke, H. te; Overlack, N.; Roepman, R.; Knipper, M.; Kremer, J.M.J.; Wolfrum, U.

    2005-01-01

    Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. USH is clinically and genetically heterogeneous with at least 11 chromosomal loci assigned to the three USH types (USH1A-G, USH2A-C, USH3A). Although the different USH types exhibit almost the same phenotype in human,

  4. Prophylactic levosimendan for the prevention of low cardiac output syndrome and mortality in paediatric patients undergoing surgery for congenital heart disease.

    Science.gov (United States)

    Hummel, Johanna; Rücker, Gerta; Stiller, Brigitte

    2017-08-02

    Low cardiac output syndrome remains a serious complication, and accounts for substantial morbidity and mortality in the postoperative course of paediatric patients undergoing surgery for congenital heart disease. Standard prophylactic and therapeutic strategies for low cardiac output syndrome are based mainly on catecholamines, which are effective drugs, but have considerable side effects. Levosimendan, a calcium sensitiser, enhances the myocardial function by generating more energy-efficient myocardial contractility than achieved via adrenergic stimulation with catecholamines. Thus potentially, levosimendan is a beneficial alternative to standard medication for the prevention of low cardiac output syndrome in paediatric patients after open heart surgery. To review the efficacy and safety of the postoperative prophylactic use of levosimendan for the prevention of low cardiac output syndrome and mortality in paediatric patients undergoing surgery for congenital heart disease. We identified trials via systematic searches of CENTRAL, MEDLINE, Embase, and Web of Science, as well as clinical trial registries, in June 2016. Reference lists from primary studies and review articles were checked for additional references. We only included randomised controlled trials (RCT) in our analysis that compared prophylactic levosimendan with standard medication or placebo, in infants and children up to 18 years of age, who were undergoing surgery for congenital heart disease. Two review authors independently extracted data and assessed risk of bias according to a pre-defined protocol. We obtained additional information from all but one of the study authors of the included studies. We used the five GRADE considerations (study limitations, consistency of effect, imprecision, indirectness, and publication bias) to assess the quality of evidence from the studies that contributed data to the meta-analyses for the prespecified outcomes. We created a 'Summary of findings' table to

  5. Ellis-Van Creveld syndrome

    Directory of Open Access Journals (Sweden)

    Le Merrer Martine

    2007-06-01

    Full Text Available Abstract Ellis-van Creveld syndrome (EVC is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP and these SRPs, especially type III (Verma-Naumoff syndrome, are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict.

  6. Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3.

    Science.gov (United States)

    Lewis, R A; Nussbaum, R L; Stambolian, D

    1990-01-01

    The Nance-Horan syndrome (NHS) is an infrequent X-linked disorder typified by dense congenital central cataracts, microcornea, anteverted and simplex pinnae, brachymetacarpalia, and numerous dental anomalies. The regional location of the genetic mutation causing NHS is unknown. The authors applied the modern molecular techniques of analysis of restriction fragment length polymorphisms to five multigenerational kindreds in which NHS segregated. Provisional linkage is established to two DNA markers--DXS143 at Xp22.3-p22.2 and DXS43 at Xp22.2. Regional localization of NHS will provide potential antenatal diagnosis in families at risk for the disease and will enhance understanding of the multifaceted genetic defects.

  7. Heart murmurs

    Science.gov (United States)

    Chest sounds - murmurs; Heart sounds - abnormal; Murmur - innocent; Innocent murmur; Systolic heart murmur; Diastolic heart murmur ... The heart has 4 chambers: Two upper chambers (atria) Two lower chambers (ventricles) The heart has valves that close ...

  8. Prenatal diagnosis of congenital heart disease using four-dimensional spatio-temporal image correlation (STIC) telemedicine via an Internet link: a pilot study.

    Science.gov (United States)

    Viñals, F; Mandujano, L; Vargas, G; Giuliano, A

    2005-01-01

    To assess whether the spatio-temporal image correlation (STIC) acquisition technique can be taught to a general obstetrician by e-mail; whether STIC volume datasets can be transmitted over the Internet; and whether STIC volume datasets analyzed offline at a remote setting can be used to confirm or exclude major cardiac defects (TELE-STIC). This was a prospective study involving 50 pregnant women with gestational ages ranging between 20 and 36 weeks. These patients were selected by two general obstetricians (operators) working in geographically remote areas of Chile. Although both obstetricians were users of equipment capable of four-dimensional (4D) ultrasound with STIC, they lacked skill in the performance of fetal cardiac examination. A dedicated web disk was created to upload the acquired volume datasets using an Internet broadband connection. Offline analysis was performed by a single investigator experienced in fetal echocardiography (the administrator). A telemedicine link via the Internet was possible in all cases. Seventy-seven volume datasets were sent to the web server. A complete cardiac examination according to set criteria was achieved by the administrator in 86% of the cases scanned by one operator and 95% of the cases scanned by the other operator. Three patients had cardiac defects confirmed postnatally, two fetuses had extracardiac anomalies and one fetus had a suspected cardiac defect unconfirmed by second-opinion TELE-STIC. There were two isolated major congenital heart defects. Both patients were given advice by e-mail and teleconference using a web camera about the likely outcome and benefits of scheduling in utero transport to a tertiary care center. STIC volumes can be obtained by operators inexperienced in fetal echocardiography, transmitted via the Internet, and their analysis enables recognition of most of the structures and views necessary to assess fetal cardiac anatomy. The preliminary use of TELE-STIC allowed us to demonstrate that

  9. Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA.

    Science.gov (United States)

    Scheibye-Knudsen, Morten; Tseng, Anne; Borch Jensen, Martin; Scheibye-Alsing, Karsten; Fang, Evandro Fei; Iyama, Teruaki; Bharti, Sanjay Kumar; Marosi, Krisztina; Froetscher, Lynn; Kassahun, Henok; Eckley, David Mark; Maul, Robert W; Bastian, Paul; De, Supriyo; Ghosh, Soumita; Nilsen, Hilde; Goldberg, Ilya G; Mattson, Mark P; Wilson, David M; Brosh, Robert M; Gorospe, Myriam; Bohr, Vilhelm A

    2016-11-01

    Cockayne syndrome is a neurodegenerative accelerated aging disorder caused by mutations in the CSA or CSB genes. Although the pathogenesis of Cockayne syndrome has remained elusive, recent work implicates mitochondrial dysfunction in the disease progression. Here, we present evidence that loss of CSA or CSB in a neuroblastoma cell line converges on mitochondrial dysfunction caused by defects in ribosomal DNA transcription and activation of the DNA damage sensor poly-ADP ribose polymerase 1 (PARP1). Indeed, inhibition of ribosomal DNA transcription leads to mitochondrial dysfunction in a number of cell lines. Furthermore, machine-learning algorithms predict that diseases with defects in ribosomal DNA (rDNA) transcription have mitochondrial dysfunction, and, accordingly, this is found when factors involved in rDNA transcription are knocked down. Mechanistically, loss of CSA or CSB leads to polymerase stalling at non-B DNA in a neuroblastoma cell line, in particular at G-quadruplex structures, and recombinant CSB can melt G-quadruplex structures. Indeed, stabilization of G-quadruplex structures activates PARP1 and leads to accelerated aging in Caenorhabditis elegans In conclusion, this work supports a role for impaired ribosomal DNA transcription in Cockayne syndrome and suggests that transcription-coupled resolution of secondary structures may be a mechanism to repress spurious activation of a DNA damage response.

  10. Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome.

    Science.gov (United States)

    Stambolian, D; Favor, J; Silvers, W; Avner, P; Chapman, V; Zhou, E

    1994-07-15

    The Xcat mutation in the mouse, an X-linked inherited disorder, is characterized by the congenital onset of cataracts. The cataracts have morphologies similar to those of cataracts found in the human Nance Horan (X-linked cataract dental) syndrome, suggesting that Xcat is an animal model for Nance Horan. The Xcat mutation provides an opportunity to investigate, at the molecular level, the pathogenesis of cataract. As a first step to cloning the Xcat gene, we report the localization of the Xcat mutation with respect to known molecular markers on the mouse X chromosome. Back-cross progeny carrying the Xcat mutation were obtained from an interspecific cross. Genomic DNA from each mouse was subjected to Southern and PCR analysis to identify restriction fragment length polymorphisms and simple sequence length polymorphisms, respectively. Our results refine the location of Xcat to a 2-cM region, eliminate several genes from consideration as the Xcat mutation, identify molecular probes tightly linked with Xcat, and suggest candidate genes responsible for the Xcat phenotype.

  11. Isolated congenital heart block in undifferentiated connective tissue disease and in primary Sjögren’s syndrome: a clinical study of 81 pregnancies in 41 patients

    Directory of Open Access Journals (Sweden)

    S. Todesco

    2011-09-01

    Full Text Available Objective: To study the incidence and the features of congenital heart block (CHB in patients with undifferentiated connective tissue disease (UCTD and primary Sjögren’s syndrome (pSS. Methods: We studied 81 pregnancies of 41 women attending the Outpatients’ Clinic of the Rheumatology Unit of University Hospital of Padova from July 1989 to March 2004. Twenty five of these (61% were affected with UCTD and 16 (39% with pSS. Serologic inclusion criteria was anti-Ro/La positivity, assessed by counterimmunoelectrophoresis and ELISA. Results: CHB was found in 2 out of the 46 (4,3% pregnancies followed by our Staff and in 2 out of the 35 (5,7% included in the retrospective part of the study. In 3 cases CHB was a 3rd degree block, causing pregnancy termination in 2. The only 2nd degree block was identified in one patient at the 22nd week of gestation and treated with dexamethasone and plasma-exchange. All of the women were positive to 52 kd and 60 kd Ro autoantibodies. CHB mothers had higher titer antibodies to 52 kd Ro protein than did the mothers with healthy infants (P = 0,026. Electrocardiographic abnormalities at birth were found in 3 out of 29 asymptomatic infants. One presented sinus bradycardia, the second abnormalities of ventricular repolarization, both regressed spontaneously, while the third ventricular extrasystoles which continue even now at 5 months. Conclusion: These results showed that in UCTD and pSS there is a higher incidence of CHB than that reported in Systemic Lupus Erythematosus. Electrocardiographic screening in all infants born to mothers with anti-Ro/La antibodies would seem an important measure to identify those with irreversible heart conduction abnormalities.

  12. Obtaining a follow-up appointment before discharge protects against readmission for patients with acute coronary syndrome and heart failure: A quality improvement project.

    Science.gov (United States)

    Baky, Vidagay; Moran, Dane; Warwick, Tessa; George, Alice; Williams, Tammy; McWilliams, Eric; Marine, Joseph E

    2018-04-15

    Cardiac patients have a high risk of readmission following hospital discharge. The aim of our project was to examine the factors associated with increased readmission rate, with a view to eventually decrease the rate of readmission for patients admitted to the hospital due to acute coronary syndrome (ACS) or heart failure. Patients admitted to the cardiac step-down unit at a single private hospital from 2015 to 2016 were included in our study. Interventions that were employed included: (1) improved pre-discharge follow-up appointment scheduling, (2) medication education by a pharmacist, and (3) timely discharge planning. Our primary outcome of interest was all-cause rate of hospital readmission within 30days. We conducted a multivariate analysis to determine the factors that were predictive of readmission rate. 578 patients were included in the study and 402 were diagnosed with ACS (69.9%). The rate of readmission was 14.2% for patients with heart failure, compared to 7.5% for patients with ACS. Following the bundle of interventions, patients were significantly more likely to receive an appointment (45.6% vs. 75.4%, pReadmission rate was comparable following the intervention (8.6% vs. 9.7%), but patients that received an appointment had 0.374 times lower odds of being readmitted (p=0.004). While our package of interventions did not lead to a significant decline in our readmission rate, patients who received a follow-up appointment prior to discharge were strongly protected against readmission. Copyright © 2017. Published by Elsevier B.V.

  13. Down Syndrome: A Cardiovascular Perspective

    Science.gov (United States)

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

  14. Down syndrome: a cardiovascular perspective

    NARCIS (Netherlands)

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skilful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart

  15. Utility of ApneaLinkTM for the diagnosis of sleep apnea-hypopnea syndrome Utilidad del ApneaLinkT para el diagnóstico del síndrome apnea-hipopnea del sueño

    Directory of Open Access Journals (Sweden)

    Carlos A. Nigro

    2010-02-01

    Full Text Available Portable sleep studies may play an important role to take decisions on patients referred for suspicion of Sleep Apnea-Hypopnea Syndrome (SAHS. The aim of this study was to evaluate the diagnostic accuracy of automated analysis of ApneaLinkT in patients with suspicion of SAHS. All participants (75 performed the ApneaLink and polysomnography (PSG simultaneously in the sleep laboratory. The two recordings were interpreted blindly. The ApneaLink software calculated: (1 risk indicator (RI-a combination of apnea/hypopnea index (AHI plus inspiratory flow limitation events and (2 the AHI. ApneaLinkT and SAHS were defined in three ways: AHI or respiratory disturbance index (RDI = 5, 10 and 15 respectively. ROC curves analysis was performed. The sensitivity (S, specificity (E and positive and negative likelihood ratio (LR+, LR- for the different thresholds for RI or AHI were calculated; 66 patients were included (47 men, mean age 51, median RDI 10.6, mean BMI 29.3 kg/m². The best cut off points of RI were: SAHS = RDI = 5: RI > 9 (S 80%, E 100%, LR- 0.20; SAHS = RDI = 10: RI > 13 (S 92%, E 93%, LR+ 13.7 LR- 0.089; SAHS = RDI = 15 =: RI > 16 (S 93.5%, E 91%, LR+ 10.9, LR- 0.071. The AHI had a similar diagnostic accuracy to RI for the different definitions of SAHS. The RI and AHI obtained from automated analysis of ApneaLinkT were highly sensitive and specific to diagnose moderate to severe SAHS.Los equipos portátiles para estudios del sueño pueden tener un rol importante para tomar decisiones en pacientes con sospecha de Síndrome Apneas-Hipopneas del Sueño (SAHS. El objetivo del estudio fue evaluar la exactitud diagnóstica del análisis automático del ApneaLinkT en pacientes con sospecha de SAHS. Setenta y cinco sujetos realizaron simultáneamente el ApneaLinkT y una polisomnografía (PSG en el laboratorio de sueño. Los dos registros fueron interpretados en forma ciega. Un programa calculó: (1 el índice apnea/hipopnea (IAH, (2 el indicador de

  16. Diagnostic investigation of porcine periweaning failure-to-thrive syndrome: lack of compelling evidence linking to common porcine pathogens.

    Science.gov (United States)

    Huang, Yanyun; Gauvreau, Henry; Harding, John

    2012-01-01

    Porcine periweaning failure-to-thrive syndrome (PFTS), an increasingly recognized syndrome in the swine industry of North America, is characterized by the anorexia of nursery pigs noticeable within 1 week of weaning, and progressive loss of body condition and lethargy during the next 1-2 weeks. Morbidity caused by PFTS is moderate, but case fatality is high. The etiology of PFTS is presently unknown and may include infectious agent(s), noninfectious factors, or both. PFTS was identified in a high health status farm with good management in early 2007. A diagnostic investigation was undertaken to identify the pathological lesions of, and infectious agents associated with, pigs demonstrating typical clinical signs. Affected (PFTS-SICK) and unaffected (PFTS-HLTHY) pigs from an affected farm, and unaffected pigs from 2 unaffected farms, were examined. The most prevalent lesions in PFTS-SICK pigs were superficial lymphocytic fundic gastritis, atrophic enteritis, superficial colitis, lymphocytic and neutrophilic rhinitis, mild nonsuppurative meningoencephalitis, and thymic atrophy. Rotavirus A and Betacoronavirus 1 (Porcine hemagglutinating encephalomyelitis virus) were identified only in PFTS-SICK pigs, but the significance of the viruses is uncertain because PFTS is not consistent with the typical presentation following infection by these pathogens. Porcine reproductive and respiratory syndrome virus, Porcine circovirus-2, Influenza A virus, Alphacoronavirus 1 (Transmissible gastroenteritis virus), Torque teno virus 1, Brachyspira hyodysenteriae, and Brachyspira pilosicoli were not identified in PFTS-SICK pigs. Suid herpesvirus 2 (Porcine cytomegalovirus), Porcine enteric calicivirus, Torque teno virus 2, pathogenic Escherichia coli, and coccidia were detected in both PFTS-SICK and PFTS-HLTHY pigs. It was concluded that there is a lack of compelling evidence that PFTS is caused by any of these pathogens.

  17. Effects of short-term rosuvastatin therapy on heart and kidney function in patients with acute coronary syndrome combining diabetes mellitus and concomitant chronic kidney disease

    Directory of Open Access Journals (Sweden)

    Heng WU

    2014-08-01

    Full Text Available Objective To observe the effects and safety of rosuvastatin therapy on protecting the renal and heart function in patients with acute coronary syndrome (ACS combining diabetes mellitus (DM and concomitant chronic kidney disease (CKD undergoing contrast media injection. Methods Concurrent parallel control and before-after self-control method were employed in present study. From Dec. 2008 to Oct. 2011, 2998 patients from 53 central hospitals in China were enrolled in a TRACK-D project. Out of 2998, 2309 patients with ACS combining DM and concomitant CKD were randomly assigned to rosuvastatin group (n=1183 or control group (n=1126. Patients in rosuvastatin group were given rosuvastatin 10mg/d for five days (two days before and three days post-procedure, while those in control group received no treatment. Isotonic non-ionic contrast medium (iodixanol was used in both groups when angiography, left ventriculography and percutaneous vascular intervention were started. Serum creatinine (Scr, estimated glomerular filtration rate (eGFR and urinary albumin/creatinine ratio (ACR were measured before and 48h, 72h after exposure to contrast medium. A 30-day clinical follow-up was conducted including the evaluation of aggravated heart failure, acute renal failure, dialysis/hemofiltration and all-cause mortality. Results No significant difference existed between the two groups at the preoperative levels of Scr (95.11±23.79μmol/L vs 94.88±20.31μmol/L, P=0.80 and eGFR [73.98±14.52ml/(min.1.73m2 vs 74.10±13.80ml/(min.1.73m2, P=0.85]. The postoperative Scr level showed no significant difference between the two groups (94.87±25.15μmol/L vs 95.74±30.50μmol/L, P=0.45, however, the postoperative Scr value presented a decline tendency in rosuvastatin group, while an upward trend in control group. The 30-day clinical follow-up found that the incidence of aggravated heart failure was significantly lower in rosuvastatin group than in control group (2.4% vs

  18. The "overweight paradox" in the prognosis of acute coronary syndrome for patients with heart failure-A truth for all? A 10-year follow-up study.

    Science.gov (United States)

    Kouvari, Matina; Chrysohoou, Christina; Tsiamis, Eleptherios; Kosyfa, Hara; Kalogirou, Lemonia; Filippou, Androniki; Iosifidis, Stelios; Aggelopoulos, Panagiotis; Pitsavos, Christos; Tousoulis, Dimitris

    2017-08-01

    In established acute coronary syndrome (ACS) with major complications (i.e. heart failure), overweight/obese patients usually have a survival advantage. To what extent this is irrespective of other characteristics remains inconclusive. The role of body mass index (BMI) in ACS prognosis (fatal/recurrent non-fatal cardiac episodes) and background potential interactions were evaluated. In 2006-2009, 1000 consecutive patients, hospitalized at First Cardiology Clinic of Athens with a diagnosis of ACS were enrolled in the study. All patients were classified according to heart failure phenotypes. One-month, 1-, 2- and 10-year follow-up examinations were performed (75% participation rate). Overweight was defined as 25≤BMI≤29.9kg/m2 and obesity as BMI >29.9kg/m2. BMI status and 10-year ACS prognosis followed a J-shape association (p=0.009). Overweight patients had significantly better ACS prognosis than their normal-weight counterparts (OR=0.45, 95% CI (0.23, 0.90)). Significant interactions were observed between sociodemographic, clinical and lifestyle parameters and BMI on 10-year ACS prognosis (all ps for interaction≤10%); the aforementioned paradoxical association was retained only in patients who: were female (OR=0.37, 95% CI (0.16, 0.82)); were aged ≤65 years (OR=0.25, 95% CI (0.09, 0.69)), HFrEF (OR=0.35, 95% CI (0.13, 0.89)); were hypercholesterolemic (OR=0.23, 95% CI (0.07, 0.81)); had no hypertension (OR=0.31, 95% CI (0.12, 0.82)) or diabetes mellitus (OR=0.29, 95% CI (0.09, 0.95)); had moderate/high adherence to a Mediterranean diet (OR=0.43, 95% CI (0.22, 0.86)); and were physically active (OR=0.37, 95% CI (0.15, 0.88)). Although the overweight paradox was observed in the 10-year ACS prognosis of heart failure patients, this paradoxical association was not the case for all. Copyright © 2017 Elsevier B.V. All rights reserved.

  19. Anticoagulant therapy and outcomes in patients with prior or acute heart failure and acute coronary syndromes: Insights from the APixaban for PRevention of Acute ISchemic Events 2 trial.

    Science.gov (United States)

    Cornel, Jan H; Lopes, Renato D; James, Stefan; Stevens, Susanna R; Neely, Megan L; Liaw, Danny; Miller, Julie; Mohan, Puneet; Amerena, John; Raev, Dimitar; Huo, Yong; Urina-Triana, Miguel; Gallegos Cazorla, Alex; Vinereanu, Dragos; Fridrich, Viliam; Harrington, Robert A; Wallentin, Lars; Alexander, John H

    2015-04-01

    Clinical outcomes and the effects of oral anticoagulants among patients with acute coronary syndrome (ACS) and either a history of or acute heart failure (HF) are largely unknown. We aimed to assess the relationship between prior HF or acute HF complicating an index ACS event and subsequent clinical outcomes and the efficacy and safety of apixaban compared with placebo in these populations. High-risk patients were randomly assigned post-ACS to apixaban 5.0 mg or placebo twice daily. Median follow-up was 8 (4-12) months. The primary outcome was cardiovascular death, myocardial infarction, or stroke. The main safety outcome was thrombolysis in myocardial infarction major bleeding. Heart failure was reported in 2,995 patients (41%), either as prior HF (2,076 [28%]) or acute HF (2,028 [27%]). Patients with HF had a very high baseline risk and were more often managed medically. Heart failure was associated with a higher rate of the primary outcome (prior HF: adjusted hazard ratio [HR] 1.73, 95% CI 1.42-2.10, P acute HF: adjusted HR 1.65, 95% CI 1.35-2.01, P acute HF: adjusted HR 2.52, 95% CI 1.82-3.50). Patients with acute HF also had significantly higher rates of thrombolysis in myocardial infarction major bleeding (prior HF: adjusted HR 1.22, 95% CI 0.65-2.27, P = .54, acute HF: adjusted HR 1.78, 95% CI 1.03-3.08, P = .04). There was no statistical evidence of a differential effect of apixaban on clinical events or bleeding in patients with or without prior HF; however, among patients with acute HF, there were numerically fewer events with apixaban than placebo (14.8 vs 19.3, HR 0.76, 95% CI 0.57-1.01, interaction P = .13), a trend that was not seen in patients with prior HF or no HF. In high-risk patients post-ACS, both prior and acute HFs are associated with an increased risk of subsequent clinical events. Apixaban did not significantly reduce clinical events and increased bleeding in patients with and without HF; however, there was a tendency toward fewer clinical

  20. DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.

    Science.gov (United States)

    Tummala, Hemanth; Walne, Amanda J; Williams, Mike; Bockett, Nicholas; Collopy, Laura; Cardoso, Shirleny; Ellison, Alicia; Wynn, Rob; Leblanc, Thierry; Fitzgibbon, Jude; Kelsell, David P; van Heel, David A; Payne, Elspeth; Plagnol, Vincent; Dokal, Inderjeet; Vulliamy, Tom

    2016-07-07

    A substantial number of individuals with bone marrow failure (BMF) present with one or more extra-hematopoietic abnormality. This suggests a constitutional or inherited basis, and yet many of them do not fit the diagnostic criteria of the known BMF syndromes. Through exome sequencing, we have now identified a subgroup of these individuals, defined by germline biallelic mutations in DNAJC21 (DNAJ homolog subfamily C member 21). They present with global BMF, and one individual developed a hematological cancer (acute myeloid leukemia) in childhood. We show that the encoded protein associates with rRNA and plays a highly conserved role in the maturation of the 60S ribosomal subunit. Lymphoblastoid cells obtained from an affected individual exhibit increased sensitivity to the transcriptional inhibitor actinomycin D and reduced amounts of rRNA. Characterization of mutations revealed impairment in interactions with cofactors (PA2G4, HSPA8, and ZNF622) involved in 60S maturation. DNAJC21 deficiency resulted in cytoplasmic accumulation of the 60S nuclear export factor PA2G4, aberrant ribosome profiles, and increased cell death. Collectively, these findings demonstrate that mutations in DNAJC21 cause a cancer-prone BMF syndrome due to corruption of early nuclear rRNA biogenesis and late cytoplasmic maturation of the 60S subunit. Copyright © 2016. Published by Elsevier Inc.

  1. Simultaneous Occurence of an Autosomal Dominant Inherited MSX1 Mutation and an X-linked Recessive Inherited EDA Mutation in One Chinese Family with Non-syndromic Oligodontia.

    Science.gov (United States)

    Zhang, Xiao Xia; Wong, Sing Wai; Han, Dong; Feng, Hai Lan

    2015-01-01

    To describe the simultaneous occurence of an autosomal dominant inherited MSX1 mutation and an X-linked recessive inherited EDA mutation in one Chinese family with nonsyndromic oligodontia. Clinical data of characteristics of tooth agenesis were collected. MSX1 and EDA gene mutations were detected in a Chinese family of non-syndromic oligodontia. Mild hypodontia in the parents and severe oligodontia in the son was recorded. A novel missense heterozygous mutation c.517C>A (p.Arg173Ser) was detected in the MSX1 gene in the boy and the father. A homozygous missense mutation c.1001G>A (p.Arg334His) was detected in the EDA gene in the boy and the same mutant occurred heterozygously in the mother. Simultaneous occurence of two different gene mutations with different inheritence patterns, which both caused oligodontia, which occurred in one subject and in one family, was reported.

  2. PPM-X: A new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28

    Energy Technology Data Exchange (ETDEWEB)

    Lindsay, S.; Splitt, M.; Edney, S. [Univ. of Newcastle upon Tyne (United Kingdom)] [and others

    1996-06-01

    We report a three-generation family manifesting a previously undescribed X-linked mental retardation syndrome. Four of the six moderately retarded males have had episodes of manic-depressive psychosis. The phenotype also includes pyramidal signs, Parkinsonian features, and macroorchidism, but there are no characteristic dysmorphic facial features. Affected males do not show fragile sites at distal Xq on cytogenetic analysis, nor do they have expansions of the CGG repeats at the FRAXA, FRAXE, or FRAXF loci. Linkage analyses were undertaken, and a maximal LOD score of 3.311 at {theta} = .0 was observed with the microsatellite marker DXS1123 in Xq28. A recombination was detected in one of the affected males with DXS1691 (Xq28), which gives the proximal boundary of the localization. No distal recombination has been detected at any of the loci tested. 31 refs., 2 figs., 2 tabs.

  3. Enlarged Heart

    Science.gov (United States)

    ... rheumatic fever, a heart defect, infections (infectious endocarditis), connective tissue disorders, certain medications or radiation treatments for cancer, your heart may enlarge. Disease of the heart ...

  4. Juvenile muscular atrophy of the distal upper extremities associated with x-linked periventricular heterotopia with features of Ehlers-Danlos syndrome.

    Science.gov (United States)

    Hommel, Alyson L; Jewett, Tamison; Mortenson, Megan; Caress, James B

    2016-10-01

    Juvenile muscular atrophy of the distal upper extremities (JMADUE) is a rare, sporadic disorder that affects adolescent males and is characterized by progressive but self-limited weakness of the distal upper extremities. The etiology is unknown, but cervical hyperflexion has been hypothesized. We report a case of an adolescent male who presented with typical JMADUE but also had joint hypermobility and multiple congenital anomalies, including periventricular heterotopias, suggesting a multisystem syndrome. Subsequent diagnostic testing confirmed a diagnosis of JMADUE, and sequencing of the filamin-A gene showed a novel, pathogenic mutation that confirmed an additional diagnosis of X-linked periventricular heterotopias with features of Ehlers-Danlos syndrome (XLPH-EDS). The concurrent diagnosis of these 2 rare conditions suggests a pathogenic connection. It is likely that the joint hypermobility from XLPH-EDS predisposed this patient to developing JMADUE. This supports the cervical hyperflexion theory of pathogenesis. This case also expands the phenotype associated with FLNA mutations. Muscle Nerve 54: 794-797, 2016. © 2016 Wiley Periodicals, Inc.

  5. Gender Differences in Risks of Coronary Heart Disease and Stroke in Patients with Type 2 Diabetes Mellitus and Their Association with Metabolic Syndrome in China

    Directory of Open Access Journals (Sweden)

    Mei-Fang Yao

    2016-01-01

    Full Text Available Coronary heart disease (CHD and stroke are common complications of type 2 diabetes mellitus (T2DM. We aimed to explore the differences in the risks of CHD and stroke between Chinese women and men with T2DM and their association with metabolic syndrome (MS. This study included 1514 patients with T2DM. The Asian Guidelines of ATPIII (2005 were used for MS diagnosis, and the UKPDS risk engine was used to evaluate the 10-year CHD and stroke risks. Women had lower CHD risk (15.3% versus 26.3%, fatal CHD risk (11.8% versus 19.0%, stroke risk (8.4% versus 10.3%, and fatal stroke risk (1.4% versus 1.6% compared with men with T2DM (p<0.05–0.001. The CHD risk (28.4% versus 22.6%, p<0.001 was significantly higher in men with MS than in those without MS. The CHD (16.2% versus 11.0%, p<0.001 and stroke risks (8.9% versus 5.8%, p<0.001 were higher in women with MS than in those without MS. In conclusion, our findings indicated that Chinese women with T2DM are less susceptible to CHD and stroke than men. Further, MS increases the risk of both these events, highlighting the need for comprehensive metabolic control in T2DM.

  6. Right-ventricular global longitudinal strain may predict neo-aortic arch obstruction after Norwood/Sano procedure in children with hypoplastic left heart syndrome.

    Science.gov (United States)

    Raucci, Frank J; Seckeler, Michael D; Saunders, Christine; Gangemi, James J; Peeler, Benjamin B; Jayakumar, K Anitha

    2013-01-01

    Neo-aortic arch obstruction (NAAO) is a common complication following the Norwood/Sano procedure (NP) for hypoplastic left heart syndrome (HLHS) and is associated with increased morbidity and mortality. However, there is currently no objective method for predicting which patients will develop NAAO. This study was designed to test the hypothesis that hemodynamic changes from development of NAAO after NP in patients with HLHS will lead to changes in myocardial dynamics that could be detected before clinical symptoms develop with strain analysis using velocity vector imaging. Patients with HLHS who had at least one cardiac catheterization after NP were identified retrospectively. Strain analysis was performed on all echocardiograms preceding the first catheterization and any subsequent catheterization performed for intervention on NAAO. Twelve patients developed NAAO and 30 patients never developed NAAO. Right ventricular strain was worse in the group that developed NAAO (-6.2 vs. -8.6 %, p = 0.040) at a median of 59 days prior to diagnosis of NAAO. Those patients that developed NAAO following NP were significantly younger at the time of first catheterization than those that did not develop NAAO (92 ± 50 vs. 140 ± 36 days, p = 0.001). This study demonstrates that right ventricular GLS is abnormal in HLHS patients following NP and worsening right ventricular strain may be predictive of the future development of NAAO.

  7. Resting heart rate associates with one-year risk of major adverse cardiovascular events in patients with acute coronary syndrome after percutaneous coronary intervention.

    Science.gov (United States)

    Wang, Shao-Li; Wang, Cheng-Long; Wang, Pei-Li; Xu, Hao; Du, Jian-Peng; Zhang, Da-Wu; Gao, Zhu-Ye; Zhang, Lei; Fu, Chang-Geng; Chen, Ke-Ji; Shi, Da-Zhuo

    2016-03-01

    The study was to access the association between resting heart rate (RHR) and one-year risk of major adverse cardiovascular events (MACE) in acute coronary syndrome (ACS) patients after percutaneous coronary intervention (PCI). Patients with ACS after PCI (n = 808) were prospectively followed-up for MACE. RHR was obtained from electrocardiogram. MACE was defined as a composite of cardiac death, nonfatal recurrent myocardial infarction, ischemic-driven revascularization, and ischemic stroke. The association between RHR and one-year risk of MACE was assessed using Cox proportional hazards regression model. Compared with patients with RHR >76 bpm, the adjusted hazard ratio (AHR) was 0.51 (95% confidence intervals [CI]: 0.23-1.14; P = 0.100) for patients with RHR 76 bpm were at higher risk of MACE during one-year follow-up compared with patients with RHR 61-76 bpm. An elevated RHR ≥ 61 bpm was associated with increased risk of one-year MACE in ACS patients. © 2015 by the Society for Experimental Biology and Medicine.

  8. Prognostic impact of renal dysfunction does not differ according to the clinical profiles of patients: insight from the acute decompensated heart failure syndromes (ATTEND registry.

    Directory of Open Access Journals (Sweden)

    Taku Inohara

    Full Text Available BACKGROUND: Renal dysfunction associated with acute decompensated heart failure (ADHF is associated with impaired outcomes. Its mechanism is attributed to renal arterial hypoperfusion or venous congestion, but its prognostic impact based on each of these clinical profiles requires elucidation. METHODS AND RESULTS: ADHF syndromes registry subjects were evaluated (N = 4,321. Logistic regression modeling calculated adjusted odds ratios (OR for in-hospital mortality for patients with and without renal dysfunction. Renal dysfunction risk was calculated for subgroups with hypoperfusion-dominant (eg. cold extremities, a low mean blood pressure or a low proportional pulse pressure or congestion-dominant clinical profiles (eg. peripheral edema, jugular venous distension, or elevated brain natriuretic peptide to evaluate renal dysfunction's prognostic impact in the context of the two underlying mechanisms. On admission, 2,150 (49.8% patients aged 73.3 ± 13.6 years had renal dysfunction. Compared with patients without renal dysfunction, those with renal dysfunction were older and had dominant ischemic etiology jugular venous distension, more frequent cold extremities, and higher brain natriuretic peptide levels. Renal dysfunction was associated with in-hospital mortality (OR 2.36; 95% confidence interval 1.75-3.18, p0.05. CONCLUSIONS: Baseline renal dysfunction was significantly associated with in-hospital mortality in ADHF patients. The prognostic impact of renal dysfunction was the same, regardless of its underlying etiologic mechanism.

  9. Congenital Heart Defects (For Parents)

    Science.gov (United States)

    ... to be associated with genetic disorders, such as Down syndrome . But the cause of most congenital heart defects isn't known. While they can't be prevented, many treatments are available for the defects and related health ...

  10. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  11. A new dietary strategy for long-term treatment of the metabolic syndrome is compared with the American Heart Association (AHA) guidelines: the MEtabolic Syndrome REduction in NAvarra (RESMENA) project.

    Science.gov (United States)

    de la Iglesia, Rocio; Lopez-Legarrea, Patricia; Abete, Itziar; Bondia-Pons, Isabel; Navas-Carretero, Santiago; Forga, Luis; Martinez, J Alfredo; Zulet, M Angeles

    2014-02-01

    The long-term effects of dietary strategies designed to combat the metabolic syndrome (MetS) remain unknown. The present study evaluated the effectiveness of a new dietary strategy based on macronutrient distribution, antioxidant capacity and meal frequency (MEtabolic Syndrome REduction in NAvarra (RESMENA) diet) for the treatment of the MetS when compared with the American Heart Association guidelines, used as Control. Subjects with the MetS (fifty-two men and forty-one women, age 49 (se 1) years, BMI 36·11 (se 0·5) kg/m²) were randomly assigned to one of two dietary groups. After a 2-month nutritional-learning intervention period, during which a nutritional assessment was made for the participants every 15 d, a 4-month self-control period began. No significant differences were found between the groups concerning anthropometry, but only the RESMENA group exhibited a significant decrease in body weight ( - 1·7%; P= 0·018), BMI ( - 1·7%; P= 0·019), waist circumference ( - 1·8%; P= 0·021), waist:hip ratio ( - 1·4%; P= 0·035) and android fat mass ( - 6·9%; P= 0·008). The RESMENA group exhibited a significant decrease in alanine aminotransferase and aspartate aminotransferase (AST) concentrations ( - 26·8%; P= 0·008 and - 14·0%; P= 0·018, respectively), while the Control group exhibited a significant increase in glucose (7·9%; P= 0·011), AST (11·3%; P= 0·045) and uric acid (9·0%; Ptreatment for the MetS.

  12. Reduced sulfation of muc5b is linked to xerostomia in patients with Sjögren syndrome

    DEFF Research Database (Denmark)

    Alliende, C; Kwon, Y-J; Brito, M

    2008-01-01

    OBJECTIVES: MUC5B contains sulfated and sialylated oligosaccharides that sequester water required for moisturising the oral mucosa. Xerostomia, in patients with Sjögren syndrome, is generally associated with reduced quantities, rather than altered properties, of saliva. Here, we determined...... the amount of MUC5B (mRNA and protein) as well as sulfation levels in salivary glands of patients with normal or altered unstimulated salivary flow. Localisation of MUC5B and sulfated MUC5B, as well as total levels sulfated groups were determined and compared with acini basal lamina disorganisation. PATIENTS...... AND METHODS: In all, 18 patients with normal or altered unstimulated salivary flow and 16 controls were studied. MUC5B mRNA and protein were evaluated in salivary glands by semiquantitative RT-PCR and Western blot analysis. MUC5B sulfation was determined by Western blotting. MUC5B and sulfo-Lewis(a) antigen...

  13. Face and emotion recognition deficits in Turner syndrome: a possible role for X-linked genes in amygdala development.

    Science.gov (United States)

    Lawrence, Kate; Kuntsi, Jonna; Coleman, Michael; Campbell, Ruth; Skuse, David

    2003-01-01

    Face recognition is thought to rely on configural visual processing. Where face recognition impairments have been identified, qualitatively delayed or anomalous configural processing has also been found. A group of women with Turner syndrome (TS) with monosomy for a single maternal X chromosome (45, Xm) showed an impairment in face recognition skills compared with normally developing women. However, normal configural face-processing abilities were apparent. The ability to recognize facial expressions of emotion, particularly fear, was also impaired in this TS subgroup. Face recognition and fear recognition accuracy were significantly correlated in the female control group but not in women with TS. The authors therefore suggest that anomalies in amygdala function may be a neurological feature of TS of this karyotype.

  14. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome

    NARCIS (Netherlands)

    Narumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Neri, Giovanni; Cave, Helene; Verloes, Alain; Nava, Caroline; Kavamura, Maria Ines; Okamoto, Nobuhiko; Kurosawa, Kenji; Hennekam, Raoul C. M.; Wilson, Louise C.; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Lapunzina, Pablo; Ohashi, Hirofumi; Makita, Yoshio; Kondo, Ikuko; Tsuchiya, Shigeru; Ito, Etsuro; Sameshima, Kiyoko; Kato, Kumi; Kure, Shigeo; Matsubara, Yokhi

    2007-01-01

    Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are

  15. Heart failure in women and men during acute coronary syndrome and long-term cardiovascular mortality (the ABC-3* Study on Heart Disease) (*Adria, Bassano, Conegliano, and Padova Hospitals).

    Science.gov (United States)

    Berton, Giuseppe; Cordiano, Rocco; Cavuto, Fiorella; Bagato, Francesco; Pellegrinet, Marco; Cati, Arianna

    2016-10-01

    We investigated the gender-based differences in the association between heart failure (HF) during acute coronary syndrome (ACS) and post-discharge, long-term cardiovascular (CV) mortality. The present study included 557 patients enrolled in three intensive coronary care units and discharged alive. HF during ACS was evaluated by Killip class and left ventricular ejection fraction (LVEF). Interaction between gender and HF after 15years of follow up was studied using Cox models including a formal interaction term. Median age was 67 (interquartile range [IQR], 59-75) years, 29% were females, 37% had non-ST elevation myocardial infarction and 32% Killip class>1, and median LVEF was 53% (IQR 46-61). All but five patients were followed up to 15years, representing 5332 person-years. Of these, 40.2% died of CV-related causes. Crude CV mortality rate was higher among women (52.2%) than men (35.3%; Pcoronary reperfusion, the interaction was significant across all models [HR=0.63 (0.42-0.95), P=0.02 in the fully adjusted model]. LVEF showed no significant hazard associated with female gender on univariable analysis [HR=1.4 (0.9-0.2.0), P=0.11] but did so in all adjusted models [HR=1.7 (1.2-2.5), P=0.005 in the fully adjusted model]. Gender is a consistent, independent effect modifier in the association between HF and long-term CV mortality after ACS. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  16. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

    Science.gov (United States)

    Wang, Xia; Charng, Wu-Lin; Chen, Chun-An; Rosenfeld, Jill A; Al Shamsi, Aisha; Al-Gazali, Lihadh; McGuire, Marianne; Mew, Nicholas Ah; Arnold, Georgianne L; Qu, Chunjing; Ding, Yan; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Walkiewicz, Magdalena; Xia, Fan; Plon, Sharon E; Lupski, James R; Schaaf, Christian P; Yang, Yaping

    2017-04-01

    ABL1 is a proto-oncogene well known as part of the fusion gene BCR-ABL1 in the Philadelphia chromosome of leukemia cancer cells. Inherited germline ABL1 changes have not been associated with genetic disorders. Here we report ABL1 germline variants cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities, and failure to thrive. The variant c.734A>G (p.Tyr245Cys) was found to occur de novo or cosegregate with disease in five individuals (families 1-3). Additionally, a de novo c.1066G>A (p.Ala356Thr) variant was identified in a sixth individual (family 4). We overexpressed the mutant constructs in HEK 293T cells and observed increased tyrosine phosphorylation, suggesting increased ABL1 kinase activities associated with both the p.Tyr245Cys and p.Ala356Thr substitutions. Our clinical and experimental findings, together with previously reported teratogenic effects of selective BCR-ABL inhibitors in humans and developmental defects in Abl1 knockout mice, suggest that ABL1 has an important role during organismal development.

  17. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

    Science.gov (United States)

    Wang, Xia; Charng, Wu-Lin; Chen, Chun-An; Rosenfeld, Jill A.; Shamsi, Aisha Al; Al-Gazali, Lihadh; McGuire, Marianne; Mew, Nicholas Ah; Arnold, Georgianne L.; Qu, Chunjing; Ding, Yan; Muzny, Donna M.; Gibbs, Richard A.; Eng, Christine M.; Walkiewicz, Magdalena; Xia, Fan; Plon, Sharon E.; Lupski, James R.; Schaaf, Christian P.; Yang, Yaping

    2017-01-01

    ABL1 is a proto-oncogene well known as part of the fusion gene BCR-ABL in the Philadelphia chromosome of leukemia cancer cells1. Inherited germline ABL1 changes have not been associated with genetic disorders. Here we report ABL1 germline variants co-segregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities, and failure to thrive. The variant c.734A>G (p.Tyr245Cys) was found as de novo or co-segregating with disease in five individuals (families 1-3). Additionally, a de novo c.1066G>A (p.Ala356Thr) variant was identified in the sixth individual (family 4). We overexpressed the mutant constructs in HEK 293T cells and observed increased tyrosine phosphorylation, suggesting increased ABL1 kinase activities associated with both p.Tyr245Cys and p.Ala356Thr substitutions. Our clinical and laboratory findings, together with previously reported teratogenic effects of selective BCR-ABL inhibitors in humans2-5 and developmental defects in Abl1 knock-out mice6,7, suggest ABL1 plays an important role during organismal development. PMID:28288113

  18. The Carmat Bioprosthetic Total Artificial Heart Is Associated With Early Hemostatic Recovery and no Acquired von Willebrand Syndrome in Calves.

    Science.gov (United States)

    Smadja, David M; Susen, Sophie; Rauch, Antoine; Cholley, Bernard; Latrémouille, Christian; Duveau, Daniel; Zilberstein, Luca; Méléard, Denis; Boughenou, Marie-Fazia; Belle, Eric Van; Gaussem, Pascale; Capel, Antoine; Jansen, Piet; Carpentier, Alain

    2017-10-01

    To determine hemostasis perturbations, including von Willebrand factor (VWF) multimers, after implantation of a new bioprosthetic and pulsatile total artificial heart (TAH). Preclinical study SETTING: Single-center biosurgical research laboratory. Female Charolais calves, 2-to-6 months old, weighing 102-to-122 kg. Surgical implantation of TAH through a mid-sternotomy approach. Four of 12 calves had a support duration of several days (4, 4, 8, and 10 days), allowing for the exploration of early steps of hemostasis parameters, including prothrombin time; coagulation factor levels (II, V, VII+X, and fibrinogen); and platelet count. Multimeric analysis of VWF was performed to detect a potential loss of high-molecular weight (HMW) multimers, as previously described for continuous flow rotary blood pumps. Despite the absence of anticoagulant treatment administered in the postoperative phase, no signs of coagulation activation were detected. Indeed, after an immediate postsurgery decrease of prothrombin time, platelet count, and coagulation factor levels, most parameters returned to baseline values. HMW multimers of VWF remained stable either after initiation or during days of support. Coagulation parameters and platelet count recovery in the postoperative phase of the Carmat TAH (Camat SA, Velizy Villacoublay Cedex, France) implantation in calves, in the absence of anticoagulant treatment and associated with the absence of decrease in HMW multimers of VWF, is in line with early hemocompatibility that is currently being validated in human clinical studies. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. X-Linked Lymphoproliferative Syndrome and Common Variable Immunodeficiency May Not Be Differentiated by SH2D1A and XIAP/BIRC4 Genes Sequence Analysis

    Directory of Open Access Journals (Sweden)

    Nesrin Gulez

    2011-01-01

    Full Text Available The X-linked lymphoproliferative syndrome (XLP is a rare, inherited immunodeficiency characterized by recurrent episodes of hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, and/or lymphomas. Recently, X-linked inhibitor of apoptosis (XIAP/BIRC4 gene defects, in families with XLP but without SH2D1A gene defects, has been defined. The distinction from primary immunodeficiencies with a defined genetic cause is mandatory