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Sample records for heart syndrome links

  1. Heart and Down Syndrome

    Science.gov (United States)

    ... Associated Conditions » The Heart & Down Syndrome The Heart & Down Syndrome Abnormalities of the cardiovascular system are common in ... the Most Common Heart Defects in Children With Down Syndrome? The most common defects are Atrioventricular Septal Defect ( ...

  2. 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.

  3. Hypoplastic left heart syndrome (image)

    Science.gov (United States)

    Hypoplastic left heart syndrome is a congenital heart condition that occurs during the development of the heart in the ... womb. During the heart's development, parts of the left side of the heart (mitral valve, left ventricle ...

  4. Acute heart failure syndrome

    African Journals Online (AJOL)

    tandfonline.com/ ... When heart failure develops gradually, there is time for the compensatory ... of this can be seen in acute brain injury, some forms of takotsubo syndrome or .... reduce blood pressure in cases presenting with elevated blood pressure.

  5. 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

  6. What is Broken Heart Syndrome

    Science.gov (United States)

    ... having a heart attack , a more common medical emergency caused by a blocked coronary (heart) artery. The two conditions have similar symptoms, ... after exposure to the unexpected stress. Many seek emergency care, concerned they are having a heart attack. Often, patients who have broken heart syndrome ...

  7. Hypoplastic left heart syndrome

    Science.gov (United States)

    HLHS; Congenital heart - hypoplastic left heart; Cyanotic heart disease - hypoplastic left heart ... Hypoplastic left heart is a rare type of congenital heart disease. It is more common in males than in ...

  8. Gallstones Linked to Higher Heart Disease Risk

    Science.gov (United States)

    ... news/fullstory_160497.html Gallstones Linked to Higher Heart Disease Risk Researcher says study highlights a connection between ... may have a slightly increased risk of developing heart disease down the road, a large new study suggests. ...

  9. Heart Disease Linked to Anxiety, Negative Feelings

    Science.gov (United States)

    ... page: https://medlineplus.gov/news/fullstory_163702.html Heart Disease Linked to Anxiety, Negative Feelings And that's especially ... Feb. 21, 2017 (HealthDay News) -- People with mild heart disease are more likely to say they have poorer ...

  10. 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...

  11. Takotsubo syndrome and brachydactyly: a new heart-hand syndrome?

    Science.gov (United States)

    Danese, C; Bocchini, S; Rubini, G; Nardi, M; Amato, S

    2011-01-01

    The Takotsubo syndrome (TTS) is a transient myocardic hypoadyskinesis so called for its typically aspect like the cages used by Japanese fisherman to trap octopus. Presently, several etiologies were considered for the development of TTS, the most accredited ones suggest that stress, adrenoreceptor hyperactivity and estrogens are the most important causes of transient morphofunctional alterations of left ventricle. We describe the case of 60 year-old woman with a chest pain occurred after a quarrel. Because of this, she went to the Emergency Department (ED) where T wave flat in lead D-I, increase of CK-MB mass and Troponin I were found. Subsequently, a coronary-ventriculography was performed and a diagnosis of Takotsubo syndrome was made. Also a bilateral IV toe brachydactyly was noted. In medical literature, there are many syndromes described about the association between skeletal alteration of the hands and heart abnormalities (heart-hand syndrome). The Authors wonder if this case can belong to this kind of complex malformations as well as if a molecular-genetic trait can link the two clinical aspects.

  12. 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...... defects developed in 75%, 28%, and 15%, respectively. The probability of developing end-stage renal disease or deafness before the age of 40 yr was 12% and 10%, respectively, in girls and women versus 90 and 80%, respectively, in boys and men. The risk of progression to end-stage renal disease appears...... 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...

  13. 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...... of age was approximately 60% in patients with missense mutations, contrary to 90% for the other types of mutations. The natural history of X-linked AS and correlations with COL4A5 mutations have been established in a large cohort of male patients. These data could be used for further evaluation...

  14. Heart-touching Chilaiditi's syndrome

    Institute of Scientific and Technical Information of China (English)

    Dario Sorrentino; Massimo Bazzocchi; Luigi Badano; Francesco Toso; Pietro Giagu

    2005-01-01

    Symptomatic hepato-diaphragmatic interposition of a bowel loop or Chilaiditi's syndrome is a peculiar anatomical condition most often found by chance. Its described symptoms range from intermittent, mild abdominal pain and dyspepsia to acute intestinal obstruction. We report a case of hepato-diaphragmatic migration of the hepatic flexure of the colon associated to an unusual, heretofore unreported, angina-like pain exclusively evoked by the left lateral decubitus. To maximize the chance of observing anatomical changes in different postures, computed tomography of the chest and abdomen was performed after air insufflation into the colon. While frank herniation into the chest was excluded, the scan showed that the hepatic flexure-with the interposition of the diaphragm-came in contact with the right side of the heart in the left lateral, but not in the supine, decubitus. This finding was reproduced by echocardiography which also showed virtually unaltered hemodynamics after the change of posture. ECG, left and right ventricular global and regional function as well as cardiac injury markers also remained unchanged during the maneuver, indicating that the pain evoked by the latter was unlikely due to myocardial ischemia. This case suggests that Chilaiditi's syndrome should be included among the possible, although rare,causes of unexplained angina-like symptoms.

  15. Heart failure complicating with SAPHO syndrome.

    Science.gov (United States)

    Nishimura, Takeshi; Kikuta, Shota; Ishihara, Satoshi; Nakayama, Shinichi

    2017-02-23

    A 65-year-old man was referred to our hospital with dyspnoea due to acute heart failure. He presented with swelling in the left clavicle and pustulosis on both soles. An antihypertensive drug and non-invasive positive pressure ventilation improved his condition rapidly. Since all his physical symptoms were compatible with the criteria of SAPHO (synovitis, acne, pustulosis, hyperostosis, osteomyelitis) syndrome, we suspected that the SAPHO syndrome might cause acute heart failure. The aetiology between SAPHO syndrome and heart failure is unclear. Further studies are needed to clarify their relationship.

  16. X-linked Alport syndrome

    DEFF Research Database (Denmark)

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

    2000-01-01

    . 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......-linked transmission, were collected. Characteristics of the 401 male patients belonging to the 195 families with COL4A5 mutation are presented. All male patients were hematuric, and the rate of progression to end-stage renal failure and deafness was mutation-dependent. Large deletions, non-sense mutations, or small...... mutations changing the reading frame conferred to affected male patients a 90% probability of developing end-stage renal failure before 30 yr of age, whereas the same risk was of 50 and 70%, respectively, in patients with missense or splice site mutation. The risk of developing hearing loss before 30 yr...

  17. Study Challenges Touted Link Between Eczema and Heart Disease

    Science.gov (United States)

    ... html Study Challenges Touted Link Between Eczema and Heart Disease Researcher now probing whether more severe cases of ... a link between eczema and increased risk of heart disease, researchers report. The findings challenge recent studies suggesting ...

  18. 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.

  19. 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.

  20. [Hypoplastic left heart syndrome (general review)].

    Science.gov (United States)

    Tláskal, T; Povýsilová, V; Vondrys, D; Skovránek, J

    1999-05-01

    The hypoplastic left heart syndrome (HLHS) is a critical congenital heart lesion with a small left ventricle in combination with stenosis or atresia of the aortic and the mitral valve. This heart disease is associated with a nearly 100% mortality at neonatal age. Until recently, this heart lesion was considered inoperable because of extremely unfavourable morphology. Introduction of the Norwood three-step reconstructive operation on one hand, and heart transplantation in neonates, on the other hand, improved the prognosis of patients with this complex heart lesion. In our country, however, this heart disease, if found during the first months of pregnancy, represents an indication for its termination, and neonates with HLHS are offered only symptomatic medical treatment. On basis of good experience from several most experienced cardiac centres we believe that it is necessary to reassess the statement considering HLHS as an inoperable disease. The main change from this aspect necessitates, however, a detailed analysis of the whole problem not only from the morphological, clinical and surgical point of view but also from philosophical, psychological, socio-economic and health care organisation aspects.

  1. Cardiorenal syndrome in children with heart failure.

    Science.gov (United States)

    Price, Jack F; Goldstein, Stuart L

    2009-09-01

    Concomitant cardiac and renal dysfunction has been termed the cardiorenal syndrome (CRS). This clinical condition usually manifests as heart failure with worsening renal function and occurs frequently in the acute care setting. A consistent definition of CRS has not been universally agreed upon, although a recent classification of CRS describes several subtypes depending on the primary organ injured and the chronicity of the injury. CRS may develop in adults and children and is a strong predictor of morbidity and mortality in hospitalized and ambulatory patients. The underlying physiology of CRS is not well understood, creating a significant challenge for clinicians when treating heart failure patients with renal insufficiency. This review summarizes recent data characterizing the incidence, physiology, and management of children who have heart failure and acute kidney injury.

  2. 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.

  3. [Cardiorenal syndrome: limits of heart failure therapy].

    Science.gov (United States)

    Großekettler, L; Schmack, B; Schwenger, V

    2013-09-01

    The cardiorenal syndrome is an interdisciplinary challenge with increasing health economic relevance. Renal failure is a strong predictor for mortality in patients with severe congestive heart failure (CHF) and CHF is one of the fastest increasing morbidities in western countries. For successful therapy a close cooperation between cardiology und nephrology is required. Moreover, a good compliance of the patient is needed to improve symptoms and to reduce the frequency of cardiac decompensation. A broad cardiological and nephrological evaluation and consideration of optimal conservative options according to national and international guidelines are essential. However, a renal replacement therapy might be helpful in patients with refractory heart failure even if they are not dialysis-dependent. In cases of acute heart and renal failure an intensive care management might be necessary to reduce volume overload with the help of extracorporeal ultrafiltration or a dialysis modality. Nevertheless, in cases of chronic refractory CHF peritoneal dialysis should be preferred. The first analysis of the registry of the German Society of Nephrology (http://www.herz-niere.de) confirmed that there is a benefit for health-related quality of life in chronic CHF patients treated with peritoneal dialysis.

  4. Heart failure accompanied by sick euthyroid syndrome and exercise training.

    Science.gov (United States)

    Psirropoulos, D; Lefkos, N; Boudonas, G; Efthimiadis, A; Vogas, V; Keskilidis, C; Tsapas, G

    2002-05-01

    Sick euthyroid syndrome is defined as the decrease of serum free triiodothyronine with normal free L-thyroxin and thyrotropin. Its appearance in patients with chronic heart failure is an indicator of severity. Exercise training through a wide variety of mechanisms reverses sick euthyroid syndrome (normalization of free triiodothyronine levels) and improves the ability to exercise. There is a connection during exercise among dyspnea, hyperventilation, fatigue, catecholamines, a decrease in the number and function of beta-blocker receptors, and elevation of serum free triiodothyronine. It is not known whether sick euthyroid syndrome contributes to the development of heart failure or is only an attendant syndrome.

  5. 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.

  6. Facts about Hypoplastic Left Heart Syndrome

    Science.gov (United States)

    ... left and right sides of the heart: the patent ductus arteriosus and the patent foramen ovale . Normally, these openings ... functioning left side of the heart through the patent ductus arteriosus and the patent foramen ovale. The right side ...

  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. BRUGADA SYNDROME: FROM PRIMARY ELECTRIC HEART DISEASE TO MORPHOLOGICAL SUBSTRATE

    Directory of Open Access Journals (Sweden)

    T. A. Pavlenko

    2016-01-01

    Full Text Available Nowadays interest in channelopathies is growing, and developing diagnostic capabilities make Brugada syndrome much more actual problem than ever. Conception of «primary electric heart disease», which earlier was so popular, now couldn’t explain the absence of single genetic syndromes’ substrate, its’ common combinations with another arrhythmias and the presence of Brugada phenocopy. Conjunction of Brugada syndrome with morphological changes in myocardium , especially myocarditis, is an area of special interest. Infl ammation associates with clinical manifestation of the syndrome, and this situation forces to think about channelopathies’ primacy and to look for another possible mechanisms of Brugada syndrome.

  9. Blood Proteins Linked to Severity of Chronic Fatigue Syndrome

    Science.gov (United States)

    ... https://medlineplus.gov/news/fullstory_167505.html Blood Proteins Linked to Severity of Chronic Fatigue Syndrome Inflammation ... it to changes in 17 immune-system signaling proteins called cytokines. That suggests inflammation plays a part ...

  10. Congenital Heart Disease in an Infant with 49,XXXXY Syndrome

    Directory of Open Access Journals (Sweden)

    Mustafa Argun

    2015-04-01

    Full Text Available 49,XXXXY syndrome which is characterized with the addition of three extra X chromosomes to 46,XY is the rarest sex chromosome aneuploidy syndrome. Its classical findings were defined as a triad of mental retardation, hypogonadism and radioulnar synostosis. In 49,XXXXY syndrome, congenital heart defects like patent ductus arteriosus, atrial septal defect, ventricular septal defect, pulmonary stenosis, Fallot’s tetralogy have been reported. We present a case diagnosed in the newborn stage with low birth weight, short stature, dysmorphic craniofacial findings and hypoplastic male genitalia who was found to have severe pulmonary hypertension and medium patent ductus arteriosus when admitted at 4 months of age with heart failure and who underwent transcathater ductus closure with Amplatzer Duct Occluder I. To our knowledge, our case is the first reported 49,XXXXY syndrome with patent ductus arteriosus closed with the transcathater route.

  11. Clinical features of adult patients with Eisenmenger syndrome associated with different types of congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    陈果

    2013-01-01

    Objective To explore the clinical features and hemodynamics of adult patients with Eisenmenger syndrome in different types of congenital heart diseases (CHD) .Methods Patients with Eisenmenger syndrome with different types of CHD diagnosed by right heart

  12. Pathogenetic relationship between coronary heart disease and osteopenic syndrome

    Directory of Open Access Journals (Sweden)

    N. S. Mykhailovskaya

    2015-02-01

    Full Text Available The importance of the comorbidity problem of coronary heart disease and osteoporosis is caused by the rising prevalence, lack of early detection, prevention, severe complications and significant impact on the quality of life of the patients. Aim. In order to compile and submit a current point of view on the pathogenetic relationship between the coronary heart disease and the osteopenic syndrome we reviewed specialized literature. Conclusion. We established that coronary heart disease and osteoporosis have common mechanisms of progression involving a cascade of proinflammatory cytokines, osteoprotegerin, endothelial dysfunction, estrogen, calcium deficiency, the renin-angiotensin-aldosterone and sympathetic nervous system.

  13. Differential diagnostic algorithm for diseases manifested with heart murmurs syndrome.

    Science.gov (United States)

    Naumov, Leonid B

    2009-08-01

    Diagnostic interpretation at auscultation of heart murmurs is accompanied by frequent errors. It creates serious clinical, pedagogical, organizational and social problems. The standard nosological principle of a clinical information description from the diagnosis (a disease name) to the description of symptoms/signs contradicts to real clinical practice from revealing of symptoms through differential diagnostics to a diagnosis establishment. The differential diagnostic algorithm or diagnostic algorithm developed by the author, is based on the opposite syndromic principle of thinking - from the signs to the diagnosis. It completely corresponds to the practical purposes of reliable diagnostics of 35 illnesses, manifested by heart murmurs at a heart auscultation.

  14. Hypoplastic left heart syndrome with dextrocardia and situs solitus.

    Science.gov (United States)

    Szczechowicz, Marcin; Januszewska, Katarzyna; Jux, Christian; Malec, Edward

    2014-04-01

    Hypoplastic left heart syndrome with dextrocardia and situs solitus is a very rare condition. We describe a 3.5-year-old male child with this constellation who underwent multistage repair and a successful extracardiac Fontan operation in our hospital.

  15. Overview of emerging pharmacologic agents for acute heart failure syndromes

    NARCIS (Netherlands)

    De Luca, Leonardo; Mebazaa, Alexandre; Filippatos, Gerasimos; Parissis, John T.; Bohm, Michael; Voors, Adriaan A.; Nieminen, Markku; Zannad, Faiez; Rhodes, Andrew; El-Banayosy, Ali; Dickstein, Kenneth; Gheorghiade, Mihai

    2008-01-01

    Background: Several therapies commonly used for the treatment of acute heart failure syndromes (AHFS) present some well-known limitations and have been associated with an early increase in the risk of death. There is, therefore, an unmet need for new pharmacologic agents for the early management of

  16. 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...

  17. Broken Heart Syndrome: Is The Heart Really Broken?

    Directory of Open Access Journals (Sweden)

    Mallya D

    2016-01-01

    Full Text Available Stress induced cardiomyopathy, which is also known as Takotsubo cardiomyopathy, is a cardiac syndrome of a transient, reversible left ventricular dysfunction that is caused by emotional and/or physical stress. Its clinical manifestations are similar to those of myocardial ischemia without a coronary artery lesion. Stress-induced cardiomyopathy is more common in middle-aged women, and the prognosis is favorable. We report the case of a 54-year-old female who had consulted a psychiatrist regarding her problematic son and were in the process of venting her feelings when she had an episode of cardiomyopathy. She fulfilled the ICD criteria for a Double Depression. Implications of condition are discussed.

  18. [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.

  19. Heart rate recovery in patients with obstructive sleep apnea syndrome

    OpenAIRE

    KARAŞEN, Rıza Murat; ÇİFTÇİ, Bülent; Baran ACAR; YALÇIN, Ahmet Arif; GÜVEN, Selma FIRAT

    2012-01-01

    To demonstrate the effects of obstructive sleep apnea syndrome (OSAS) on baroregulatory function by using heart rate recovery (HRR) parameters. Materials and methods: Fifty-four moderate and severe OSAS patients were included in the study. HRR was defined as the difference in heart rate between peak exercise and 1 min later; a value of 18 beats/min was considered abnormal. OSAS patients were enrolled in the study as group 1 (normal HRR; n = 12) and group 2 (abnormal HRR, n = 42). Left ventr...

  20. Heart rate recovery in patients with obstructive sleep apnea syndrome

    OpenAIRE

    KARAŞEN, Rıza Murat; ÇİFTÇİ, Bülent; Acar,Baran; YALÇIN, Ahmet Arif; GÜVEN, Selma FIRAT

    2014-01-01

    To demonstrate the effects of obstructive sleep apnea syndrome (OSAS) on baroregulatory function by using heart rate recovery (HRR) parameters. Materials and methods: Fifty-four moderate and severe OSAS patients were included in the study. HRR was defined as the difference in heart rate between peak exercise and 1 min later; a value of 18 beats/min was considered abnormal. OSAS patients were enrolled in the study as group 1 (normal HRR; n = 12) and group 2 (abnormal HRR, n = 42). Left ventr...

  1. Heart-lung transplantation for end-stage heart disease with Eisenmenger's syndrome: report of two cases

    Institute of Scientific and Technical Information of China (English)

    ZHANG Xi; XIONG Mai; WANG Zhi-ping; YIN Sheng-li; WU Zhong-kai; XU Ying-qi; TANG Bai-yun; YAO Jian-ping; CHEN Guang-xian

    2009-01-01

    @@ From September 2006 to January 2007, 2 patients with end-staged heart and lung disease (congenital disease, Eisenmenger's syndrome, severe pulmonary artery hypertension and heart failure) underwent heart and lung transplantation (HLT) at the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.

  2. Testosterone and metabolic syndrome: The link

    Directory of Open Access Journals (Sweden)

    Ranabir Salam

    2012-01-01

    Full Text Available Metabolic syndrome (MetS or "Syndrome X" which is a constellation of insulin resistance, hyperglycemia, hypertension, low high-density lipoprotein cholesterol (HDL-C, and increased very-low-density lipoprotein (VLDL and triglyceride (TG levels. It is one of the main threats for public health in the 21st century with its associated risk of cardiovascular disease. This condition affects a major chunk of mankind. International Diabetes Federation (IDF estimated that around 20-25% of the adult population of the world has MetS. Several definitions have been put forward by different expert bodies leading to confusion. To overcome this, joint new statement of many expert group have been issued. Serum testosterone (T has been shown to be associated with MetS. Several studies have shown a higher prevalence of MetS in subjects with low testosterone. There are also several studies showing a significant difference in serum T between those with MetS and those without. Serum T has also been shown to be associated with components of MetS and testosterone replacement therapy (TRT improves various metabolic and anthropometric parameters in MetS. Patients with androgen deprivation for treatment of various cancers have also been reported to have higher prevalence of MetS. But the evidence of association is not sufficient evidence for the causation of MetS by low testosterone and long-term studies are needed to confirm whether T deficiency is the cause or is a feature of MetS.

  3. Facets of Parenting a Child with Hypoplastic Left Heart Syndrome

    OpenAIRE

    Rempel, Gwen R.; Rogers, Laura G.; Vinitha Ravindran; Joyce Magill-Evans

    2012-01-01

    The purpose of the study was to conceptualize the needs of parents of young children with hypoplastic left heart syndrome (HLHS) to provide a theoretical framework to inform the development of future parent interventions. Participants were parents and grandparents (n = 53) of 15 young children who had undergone the Sano surgical approach for HLHS. Analysis of recorded and transcribed single interviews with each participant was done as directed by interpretive description methodology. A model ...

  4. Reversible cerebral vasoconstriction syndrome combined with posterior reversible encephalopathy syndrome after heart transplantation.

    Science.gov (United States)

    Ban, Seung Pil; Hwang, Gyojun; Kim, Chang Hyeun; Kwon, O-Ki

    2017-08-01

    Reversible cerebral vasoconstriction syndrome (RCVS) combined with posterior reversible encephalopathy syndrome (PRES) is a rare complication in patients treated with immunosuppressants. A 52-year-old male patient presented with seizures after heart transplantation. The patient was suspected of having PRES on brain images. Despite the strict blood pressure control, the patient presented with altered mentality and the brain images showed a newly developed large acute infarction. Digital subtraction angiography (DSA) revealed the classic "sausage on a string" appearance of the cerebral arteries - potential feature of RCVS. To our knowledge, this is the first case report to describe RCVS combined with PRES after heart transplantation. Copyright © 2017 Elsevier Ltd. All rights reserved.

  5. Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

    Science.gov (United States)

    Suzumori, Nobuhiro; Kaname, Tadashi; Muramatsu, Yukako; Yanagi, Kumiko; Kumagai, Kyoko; Mizuno, Seiji; Naritomi, Kenji; Saitoh, Shinji; Sugiura-Ogasawara, Mayumi

    2013-11-01

    Lenz microphthalmia syndrome comprises microphthalmia-anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern. In 2004, it was reported that the missense mutation (BCL-6 co-repressor gene [BCOR] c.254C>T, p.P85L) in a single family with Lenz microphthalmia syndrome co-segregated with the disease phenotype. We report a case of prenatal diagnosis for X-linked recessive Lenz microphthalmia syndrome with the mutation. A 32-year-old gravida 5, para 2 Japanese woman was referred to Nagoya City University Hospital at 15 weeks of gestation. After genetic counseling and informed consent, amniocentesis was performed for fetal karyotyping, which was 46,XY. Using the extracted DNA from cultured amniotic cells, fetal search for BCOR c.254C>T mutation was undertaken. The couple requested medical termination of pregnancy, and the postabortion examination confirmed the diagnosis. This is the third report of a BCOR mutation, associated with X-linked syndromic microphthalmia, and most importantly, it is always the same mutation. The prenatal genetic diagnosis of the Lenz microphthalmia syndrome allowed time for parental counseling and delivery planning.

  6. Anemic syndrome in patients with ischemic heart disease and chronic heart failure (review

    Directory of Open Access Journals (Sweden)

    Shvarts Y.G.

    2011-12-01

    Full Text Available Anemic syndrome of different severity often accompanies ischemic heart disease (IHD and chronic heart failure (CHF. Anemia has association with unfavorable prognosis in patients with all forms of CVD — acute and chronic. In this article the authors summarize a literature review of English articles dedicated to the problem of anemia and ischemic heart disease (IHD and the results of original research on the relationship between anemic syndrome and prognosis in the hospitalized patients with IHD and chronic heart failure (CHF. Anemia is frequently observed in patients with CHF, and evidence suggests that anemia might be associated with an increased mortality in both systolic and diastolic chronic heart failure (CHF, morbidity and rate of hospitalization in CHF patients. Moreover, CHF itself could be involved in the pathogenesis of anemia. Early studies suggested a pathogenic role of inflammation mediators. The normalization of hemoglobin concentration by EPO and iron supply in patients with CHF and chronic renal insufficiency results in improved exercise capacity by increasing oxygen delivery and improving cardiac function. However, there is limited information concerning the association of hemoglobin concentration and new onset of clinically recognized coronary artery disease, and lack of information about the effect of anemia treatment on prognosis of acute forms of IHD

  7. 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 publishe...

  8. X-Linked agammaglobulinemia in a child with Klinefelter's syndrome.

    Science.gov (United States)

    Cochino, Alexis-Virgil; Janda, Ales; Ravcukova, Barbora; Plaiasu, Vasilica; Ochiana, Diana; Gherghina, Ioan; Freiberger, Tomas

    2014-02-01

    Bruton's agammaglobulinemia is a rare X-linked humoral immunodeficiency manifesting with recurrent bacterial infections early in life. Klinefelter's syndrome caused by an additional X chromosome is the most common sex chromosome disorder. A previously unreported association of these two conditions is described here.

  9. Multipoint linkage analysis in X-linked Alport syndrome

    DEFF Research Database (Denmark)

    Hertz, Jens Michael; Kruse, T A; Thomsen, A

    1991-01-01

    In order to localize the gene for the X-linked form of Alport syndrome (ATS) more precisely, we performed restriction fragment length polymorphism analysis with nine different X-chromosomal DNA markers in 107 members of twelve Danish families segregating for classic ATS or progressive hereditary ...

  10. Heart rate variability in infants with West syndrome

    DEFF Research Database (Denmark)

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

    2015-01-01

    with WS the heart rate variability (HRV) was investigated by examining time- and frequency-domain parameters of HRV at the time of the diagnosis of hypsarrhythmia and compared to 22 age-matched controls. For the WS patients the same dataset was obtained and compared again at the end of the study period......PURPOSE: West syndrome (WS) is a severe age-related acute epileptic encephalopathy of infancy characterized by infantile spasms, hypsarrhythmia and psychomotor delay. The aim of this study was to investigate if patients with WS had an altered autonomic output to the heart. METHODS: In 23 patients......-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...

  11. 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.

  12. Central sleep apnoea syndrome in chronic heart failure : an underestimated and treatable comorbidity

    NARCIS (Netherlands)

    Muller, M.; de Jong, M.; Jaarsma, T.; Voors, A. A.; Nieuwenhuis, J. A.; Wijkstra, P. J.; Koops, A.

    Chronic heart failure is a clinical syndrome with a high mortality and morbidity. Despite optimal therapy, five-year survival is still only 50%. Central sleep apnoea syndrome is seen in approximately 40% of patients with congestive heart failure. Sleep apnoea syndrome can be divided into two forms

  13. Dermatomyositis-like syndrome in x-linked agammaglobulinemia

    Directory of Open Access Journals (Sweden)

    Pedro David Carvalho

    2016-01-01

    Full Text Available Primary immunodeficiencies (PIDs encompass more than 250 different pathological conditions. X-linked agammaglobulinemia (XLA has been occasionally associated with cutaneous and muscular manifestations resembling dermatomyositis, often termed dermatomyositis-like syndrome (DLS. This syndrome has been associated with cutaneous, muscular and central nervous system manifestations, accompanying a persistent infection by an Echovirus. According to sixteen previously reported cases, this syndrome has a poor prognosis. We report the case of a 27-years old male, with XLA and DLS, successfully treated with 6 cycles of human immunoglobulin and methotrexate. Clinical symptoms improved dramatically with a complete resolution of the musculoskeletal manifestations. Despite this clinical response, prognosis should remain reserved. The evolution of this syndrome remains unpredictable and therapeutic options are limited. To the best of our knowledge, there are only a few reports of similar cases which have survived so many months after the diagnosis.

  14. Vitamin D linked to PFAPA syndrome.

    Science.gov (United States)

    Mahamid, Mahmud; Agbaria, Khaled; Mahamid, Ammad; Nseir, William

    2013-03-01

    the etiology and pathogenesis of PFAPA is still unknown, the rapid response to corticosteroids treatment suggested an immune mechanism. The role of vitamin D in the development of immune mediated diseases is widely investigated. In this study we aimed to look for possible association between serum 25-hydroxy vitamin D levels and PFAPA syndrome. Twenty-two patients diagnosed with PFAPA followed up at our private clinics between June 2010 and May 2012 were enrolled in the study in addition to 20 patients' age and gender-matched control group. All subjects had complete work-up medical examination and laboratory tests. Laboratory tests included complete blood count, C-reactive protein (CRP), throat culture, and vitamin D levels. mean WBC and CRP values were significantly higher in the PFAPA group (WBC=13.9±2.3×10(3) /mm(2) versus 5.8±3.4×10(3) /mm(2) in the control group (P<0.05) and CRP 37.9±25.7mg/dl versus0.7±1.23mg/dl in the control group (P<0.05)). Vitamin D levels were significantly decreased in PFAPA group as compared with the control (12.27±11.02ng/ml in the PFAPA group versus 20.34±12.64ng/ml in the control group (P<0.05)). Multivariate analysis showed that CRP (odd ratio (OR)=3.0, 95% confidence interval (CI)=2.6-4.2, P=0.01 and serum vitamin D levels <30ng/ml OR=2.6, 95% CI=2.4-3.2, P=0.02 were associated with PFAPA. we found a significant correlation between PFAPA and vitamin D deficiency. Vitamin D deficiency can be significant risk factor for PFAPA occurrence. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  15. "Young at heart": Regenerative potential linked to immature cardiac phenotypes.

    Science.gov (United States)

    Gomes, Renata S M; Skroblin, Philipp; Munster, Alex B; Tomlins, Hannah; Langley, Sarah R; Zampetaki, Anna; Yin, Xiaoke; Wardle, Fiona C; Mayr, Manuel

    2016-03-01

    The adult human myocardium is incapable of regeneration; yet, the zebrafish (Danio rerio) can regenerate damaged myocardium. Similar to the zebrafish heart, hearts of neonatal, but not adult mice are capable of myocardial regeneration. We performed a proteomics analysis of adult zebrafish hearts and compared their protein expression profile to hearts from neonatal and adult mice. Using difference in-gel electrophoresis (DIGE), there was little overlap between the proteome from adult mouse (>8weeks old) and adult zebrafish (18months old) hearts. Similarly, there was a significant degree of mismatch between the protein expression in neonatal and adult mouse hearts. Enrichment analysis of the selected proteins revealed over-expression of DNA synthesis-related proteins in the cardiac proteome of the adult zebrafish heart similar to neonatal and 4days old mice, whereas in hearts of adult mice there was a mitochondria-related predominance in protein expression. Importantly, we noted pronounced differences in the myofilament composition: the adult zebrafish heart lacks many of the myofilament proteins of differentiated adult cardiomyocytes such as the ventricular isoforms of myosin light chains and nebulette. Instead, troponin I and myozenin 1 were expressed as skeletal isoforms rather than cardiac isoforms. The relative immaturity of the adult zebrafish heart was further supported by cardiac microRNA data. Our assessment of zebrafish and mammalian hearts challenges the assertions on the translational potential of cardiac regeneration in the zebrafish model. The immature myofilament composition of the fish heart may explain why adult mouse and human cardiomyocytes lack this endogenous repair mechanism.

  16. The heart in the primary antiphospholipid syndrome.

    Science.gov (United States)

    Badui, E; Solorio, S; Martinez, E; Bravo, G; Enciso, R; Barile, L; Gutierrez-Vogel, S; Miranda, J

    1995-01-01

    Twenty consecutive female patients (mean age 30.1 years) with Primary Antiphospholipid Syndrome (PAPS) were studied cardiologically through noninvasive methods and compared with 20 age-and sex-matched healthy subjects. On physical examination 13/20 patients (65%) with PAPS had a valvular abnormality. In 12/20 (60%) patients with PAPS the ECG was abnormal, mainly due to sinus tachycardia in 5 (25%) and acute myocardial infarction in 3 (15%). In 7/20 patients with PAPS (35%) abnormal pulmonary findings were detected by X-ray and in 6 (30%) they were related to dilated pulmonary arch and pulmonary hypertension. In 14/20 cases (70%) with PAPS, abnormal echocardiographic findings were present; 13/20 patients (65%) had valvular complications attributable to PAPS: mitral insufficiency in six cases; mitral valve prolapse in three and aortic insufficiency in three. Two had pulmonary artery hypertension and two, tricuspid regurgitation (one attributable to PAPS). All valve diseases were regurgitant with mild to moderate hemodynamic repercussion. No stenotic lesions were detected. The mean mitral thickness in patients with mitral valve involvement was 7.0 +/- 1.6 mm, compared to 2.8 +/- 0.7 mm in patients with normal valves and 3.1 +/- 0.9 mm in the control group (p < 0.001). The mean aortic valve thickness in patients with aortic valve involvement was 3.6 +/- 0.5 mm compared to 1.5 +/- 0.3 mm in patients with normal valves and 1.4 +/- 0.4 in the control group (p < 0.001). None of the patients from the control group had valve disease (p < 0.0001). Three cases (15%) had pericardial effusion diagnosed by echo. Two patients with PAPS died during the 4.7 +/- 1.2 years of cardiological follow up, due to acute myocardial infarction and embolic cerebrovascular accident, respectively. In conclusion, cardiologic complications are common in PAPS, including left side regurgitant lesions that might be hemodynamically significant, acute myocardial infarction, pericardial effusion and

  17. [X-linked Kallmann's syndrome: intra and interfamilial heterogeneity].

    Science.gov (United States)

    Vidal, Alfonso; Loidi, Lourdes; Colino, Esmeralda; del Carmen Miranda, María; Barrio, Raquel

    2007-05-26

    Hypogonadotropic hypogonadism and anosmia characterize Kallmann's syndrome, whose X-linked form is due to mutations in the KAL1 gene. We studied a family with 6 affected members. We compare their clinical (chryptorchidism, micropenis, puberty, associated malformations), analytical (gonadotrophin releasing hormone test, and human chorionic gonadotropin test), genetic (cariotype), and radiological data of the described familiar cases with other reported sporadic cases. The described cases carried the R191X mutation. We found phenotypic heterogeneity between the patients. We report the first familiar cases of Kallmann's syndrome due to the R191X mutation. Probably other genes and/or epigenetic factors determine the phenotype.

  18. 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

    2017-02-22

    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.

  19. Decreased autonomic modulation of heart rate and altered cardiac sympathovagal balance in patients with Cushing's syndrome: role of endogenous hypercortisolism.

    Science.gov (United States)

    Chandran, Dinu S; Ali, Naseer; Jaryal, Ashok Kumar; Jyotsna, Viveka P; Deepak, Kishore Kumar

    2013-01-01

    Endogenous Cushing's syndrome is associated with a higher risk of cardiovascular morbidity and mortality. Previous literature suggested multiple possible links by which hypercortisolism may alter the autonomic control of cardiovascular functions. We investigated the impact of chronic endogenous hypercortisolism on the autonomic regulation of cardiac functions by short-term heart rate variability analysis. Eighteen patients with endogenous Cushing's syndrome and 20 age-, gender- and BMI-matched controls participated in the study. ECG signal was acquired in lead II configuration for 5 min and heart rate variability assessment was made in both time and frequency domain using the extracted RR interval data. All time and frequency domain measures of heart rate variability were significantly (p heart rate variability and basal cortisol levels (r = -0.6594; p = 0.0029). Multiple linear regression analysis identified age, disease duration (in months), basal cortisol levels and systolic blood pressure as independent predictors of normalized high frequency power. Findings of the study clearly portrayed the diminished autonomic modulation of heart rate in endogenous Cushing's syndrome and its possible relationship with hypercortisolism as the main causative factor. Diminished heart rate variability may be an indicator of the increased risk of cardiac mortality in these patients. Copyright © 2013 S. Karger AG, Basel.

  20. Facets of Parenting a Child with Hypoplastic Left Heart Syndrome

    Directory of Open Access Journals (Sweden)

    Gwen R. Rempel

    2012-01-01

    Full Text Available The purpose of the study was to conceptualize the needs of parents of young children with hypoplastic left heart syndrome (HLHS to provide a theoretical framework to inform the development of future parent interventions. Participants were parents and grandparents (n=53 of 15 young children who had undergone the Sano surgical approach for HLHS. Analysis of recorded and transcribed single interviews with each participant was done as directed by interpretive description methodology. A model of five facets of parenting was conceptualized. These included survival parenting, “hands-off” parenting, expert parenting, uncertain parenting, and supported parenting. The facets of parenting delineated through this study provide a theoretical framework that can be used to guide the development and evaluation of interventions for parents of children with complex congenital heart disease and potentially other life-threatening conditions. Each facet constitutes a critical component for educational or psychosocial intervention for parents.

  1. Pathophysiology of cardiorenal syndrome in decompensated heart failure: role of lung-right heart-kidney interaction.

    Science.gov (United States)

    Guazzi, M; Gatto, P; Giusti, G; Pizzamiglio, F; Previtali, I; Vignati, C; Arena, R

    2013-11-30

    Cardiorenal syndrome (CRS) is defined as an interaction of cardiac disease with renal dysfunction that leads to diuretic resistance and renal function worsening, mainly with heart failure (HF) exacerbation. Hemodynamic variables linking heart and kidney are renal blood flow (cardiac output) and perfusion pressure, i.e., the aortic - renal venous pressure gradient. CRS has traditionally been interpreted as related to defective renal perfusion and arterial underfilling and, more recently, to elevation in central venous pressure transmitted back to renal veins. Our suggestion is that in a setting where aortic pressure is generally low, due to heart dysfunction and to vasodrepressive therapy, the elevated central venous pressure (CVP) contributes to lower the renal perfusion pressure below the threshold of kidney autoregulation (≤80mm Hg) and causes renal perfusion to become directly pressure dependent. This condition is associated with high neurohumoral activation and preglomerular vasoconstriction that may preserve pressure, but may decrease filtration fraction and glomerular filtration rate and enhance proximal tubular sodium absorption. Thus, congestion worsens and drives the vicious cycle of further sodium retention and HF exacerbation. Lowering CVP by targeting the lung-right heart interaction that sustains elevated CVP seems to be a more rational approach rather than reducing intravascular volume. This interaction is crucial and consists of a cascade with stepwise development of pulmonary post-capillary hypertension, precapillary arteriolar hypertone, right ventricular overload and enlargement with tricuspid incompetence and interference with left ventricular filling (interdependence). The resultant CVP rise is transmitted to the renal veins, eventually drives CRS and leads to a positive feedback loop evolving towards HF refractoriness.

  2. Common Virus May Be Linked to Heart Disease, Diabetes in Some Women

    Science.gov (United States)

    ... https://medlineplus.gov/news/fullstory_163761.html Common Virus May Be Linked to Heart Disease, Diabetes in ... THURSDAY, Feb. 23, 2017 (HealthDay News) -- A common virus may make some women more susceptible to both ...

  3. Heart rate variability and the metabolic syndrome: a systematic review of the literature.

    Science.gov (United States)

    Stuckey, Melanie I; Tulppo, Mikko P; Kiviniemi, Antti M; Petrella, Robert J

    2014-11-01

    A number of cross-sectional studies have examined associations between heart rate variability and metabolic syndrome, but differences in study populations, data collection and analysis methodologies make synthesis difficult. The purpose of this study was to systematically review published primary research examining associations between heart rate variability and metabolic syndrome or its individual risk factors. A systematic literature search of PubMed and EMBASE was conducted to identify relevant articles published from January 1999 to December 2012. Studies were included if they examined associations between heart rate variability analysed by standard protocols and metabolic syndrome risk factors according to published definitions. All papers were scored with a modified Downs and Black instrument, and data were extracted. Fourteen studies were included. Heart rate variability generally was reduced in women with metabolic syndrome compared to those without, while results in men were inconsistent. Time and frequency domain heart rate variability parameters were associated with individual metabolic syndrome risk factors, though sex differences exist. Only two studies considered nonlinear and Poincaré plot heart rate variability parameters, which were reduced in metabolic syndrome. Heart rate variability is altered differently in men and women with metabolic syndrome. Future studies should follow consistent heart rate variability analysis protocols and metabolic syndrome definitions and include more comprehensive analyses to investigate potential mechanisms. Copyright © 2014 John Wiley & Sons, Ltd.

  4. Depression: links with ischemic heart disease and erectile dysfunction.

    Science.gov (United States)

    Roose, Steven P

    2003-01-01

    This article examines the relationships among depression, ischemic heart disease, and erectile dysfunction. Depression is an independent risk factor for the development of ischemic heart disease, and depression in the post-myocardial infarction patient is associated with increased morbidity and mortality. Ischemic heart disease and erectile dysfunction are also frequently comorbid and share many common risk factors including age, hypertension, diabetes, dyslipidemia, obesity, sedentary lifestyle, and smoking. Depression and erectile dysfunction often occur together; however, the causal relation may be difficult to determine because erectile dysfunction may be a symptom of depression, social distress accompanying erectile dysfunction may precipitate depressive symptoms, or both conditions may result from a common factor such as vascular disease.

  5. [Valvular heart disease in patients with anti-phospholipid syndrome].

    Science.gov (United States)

    Muñoz-Rodríguez, F J; Reverter Calatayud, J C; Font Franco, J; Espinosa Garriga, G; Tàssies Penella, D; Ingelmo Morin, M

    2002-10-01

    Anti-phospholipid antibodies (APA) may involve heart and valvular heart disease seems to be the most common clinical manifestation. To study the prevalence and characteristics of valvular heart disease in a large patient population with anti-phospholipid syndrome (APS) and also to analyze the clinical and immunological profile of patients with valvular involvement compared with those without involvement. Patients and methods. Retrospective analysis of 113 patients diagnosed of APS. Eighty-one percent were females and the mean age was 39 years (SD:14). Sixty-two percent of patients were diagnosed of primary APS (70 patients) and the remaining 38% (43 patients) corresponded to patients with APS associated with systemic lupus erythematosus (SLE). The median follow-up of patients was 55 months (range: 7-144 months). The cardiologic assessment was performed by means of transthoracic echocardiogram. The study of anti-lupus anticoagulant (AL) was performed by means of coagulometric assays and measurement of anticardiolipin antibodies (aCL), anti-beta2 glycoprotein I (abeta2-PGI) and anti-prothrombin (aPT) by ELISA. The prevalence of valvular heart disease was 19%. The mitral valve was mostly involved (91%) and the most common structural abnormality corresponded to mitral insufficiency. Valvular replacement was required in 24% of patients. In the subgroup of patients with valvular heart disease, a significantly higher prevalence was observed in the following parameters: total thrombosis (71% versus 49%; p = 0.05), arterial thrombosis (57% versus 23%; p = 0.002), stroke (38% versus 13%; p = 0.01), trombocitopenia (71% versus 45%; p = 0.02), hemolytic anemia (29% versus 9%; p = 0.02), and livedo reticularis (48% versus 3%; p < 0.0001). As for immunological differences, only a higher prevalence of LA was found (81% versus 59%; p= 0.04) and abeta2-GPI (IgG isotype) (43% versus 22%; p = 0.05) in patients with valvular heart disease. Valvular heart disease is more frequent in pa

  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. Takotsubo Cardiomyopathy (Broken-Heart Syndrome): A Short Review.

    Science.gov (United States)

    Potu, Kalyan Chakravarthy; Raizada, Amol; Gedela, Maheedhar; Stys, Adam

    2016-04-01

    Takotsubo cardiomyopathy, also called "broken heart" syndrome or apical ballooning syndrome, is a reversible cardiomyopathy characterized by left ventricular dysfunction and ballooning of the left ventricular apex on imaging during systole. It predominantly occurs in post-menopausal women and is commonly associated with emotional or physical stress. Patients commonly present with chest pain and electrocardiographic evidence of ST segment elevation or T-wave-mimicking acute coronary syndrome, but with an absence of angiographic evidence of obstructive coronary disease. The exact cause is unknown, but potential contributors include catecholamine excess and sympathetic nervous system hyperactivity. There is no consensus on pharmacological treatment of takotsubo cardiomyopathy. Based on the suspected pathophysiology of the disease, adrenergic blockade using beta-blocker therapy is employed. Near complete resolution of left ventricular wall motion dyskinesis occurs in the majority of takotsubo cardiomyopathy patients within a month. Although the prognosis is generally favorable, there are reports of complications during the acute phase, including cardiogenic shock, pulmonary edema, ventricular tachycardia, apical thrombus formation, and death. This review article will briefly discuss the epidemiology, etiology, clinical features, diagnostic evaluation, and treatment of this condition.

  8. TAR (THROMBOCYTOPENIA WITH ABSENT RADIUS SYNDROME WITH CONGENITAL ACYANOTIC HEART DISEASE: A RARE CASE REPORT

    Directory of Open Access Journals (Sweden)

    Ashok S

    2016-03-01

    Full Text Available It is a rare genetic disorder characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count. This syndrome may occur as a part of the 1q21.1 deletion syndrome. Symptoms of thrombocytopenia or a lowered platelet count leads to bruising and potentially life-threatening haemorrhage. Affected children who survive this period and do not have damaging haemorrhages in the brain usually have a normal life expectancy and normal intellectual development. Other common links between with TAR seem to include heart problems, kidney problems, knee joint problems, frequently lactose intolerance and often thumb hypoplasia. The incidence is 0.5-1 per 100,000 live births. Mutations in the RBM8A gene cause TAR syndrome. It is inherited in an autosomal recessive pattern. This disorder is to be differentiated from Holt-Oram syndrome, which has similar presentation. Prevention of bleeding with physiotherapy and occupational therapy are mainstay of management. With this case report we try to discuss the complexity of the condition and its management in the neonatal period.

  9. Genes Tied to Belly Size Also Linked to Heart Disease

    Science.gov (United States)

    ... he said, that the genes that contribute to abdominal obesity also feed the development of diabetes and heart disease -- through mechanisms other than extra belly fat. Still, everyone agreed on what the findings imply: ... vulnerable to abdominal obesity, that does not mean it's destiny. It's ...

  10. CONGENITAL COMPLETE HEART BLOCK IN DOWN SYNDROME: A RARE CASE REPORT

    Directory of Open Access Journals (Sweden)

    Vishwanath

    2015-06-01

    Full Text Available Down syndrome ( T risomy 21 is the commonest disorder among chromosomal anomalies having incidence of 1:650 – 1:1000 live births. [1] The clinical manifestations of Down syndrome are numerous and can present in any body system. Down association of congenital heart disease is well known. Among all cases of congenital heart diseases, 4% - 10% are with Down syndrome, and 40% - 60% of Down syndrome patients have congenital heart disease. The most common congenital cardiac anomaly in Down syndrome is Atrioventricular septal defects, followed by patent ductus arteriosus and atrial septal defects. Oth er forms of complex heart disease can occur including overriding aorta and Tetralogy of fallot. [2] The pure Conduction defect are very rare to have association with the Down syndrome and is not reported in infancy so far.

  11. Heart defects and ocular anomalies in children with Down’s syndrome

    OpenAIRE

    Bromham, Nathan R.; Woodhouse, J M; Cregg, M.; Webb, Elspeth Valma Jocelyn; Fraser, William

    2002-01-01

    Aims: To investigate whether ocular anomalies are associated with congenital heart defects in children with Down’s syndrome. \\ud \\ud Methods: 58 children with Down’s syndrome were entered into a retrospective observational study. Children were assigned to heart defect groups based on medical records. Optometric tests had previously been carried out at the homes of the children. \\ud \\ud Results: A relation between congenital cardiac defects, myopia, and nystagmus was observed. Heart proble...

  12. How Normal Is a 'Normal' Heart in Fetuses and Infants with Down Syndrome?

    NARCIS (Netherlands)

    Calkoen, E.; Adriaanse, B.; Haak, M. van den; Bartelings, M.; Kolesnik, A.; Niszczota, C.; Vugt, J.M.G. van; Roest, A.; Blom, N.; Groot, A.; Jongbloed, M.

    2016-01-01

    BACKGROUND: Congenital heart disease is present in 44-56% of fetuses with Down syndrome (DS). There are, however, signs that hearts in DS without apparent structural heart defects also differ from those in the normal population. We aimed to compare the atrioventricular (AV) septum and valves in 3

  13. Can folic acid protect against congenital heart defects in Down syndrome?

    NARCIS (Netherlands)

    Meijer, Willemijn M.; Werler, Martha M.; Louik, Carol; Hernandez-Diaz, Sonia; de Jong-van den Berg, Lolkje T. W.; Mitchell, Allen A.

    2006-01-01

    BACKGROUND: Several studies have suggested a protective effect of folic acid (FA) on congenital heart anomalies. Down syndrome (DS) infants are known to have a high frequency of heart anomalies. Not all children with DS suffer from heart anomalies, which raises the question whether maternal factors

  14. 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.

  15. 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.

  16. [Metabolic syndrome and bipolar disorder: Is sleep the missing link?

    Science.gov (United States)

    Brochard, H; Boudebesse, C; Henry, C; Godin, O; Leboyer, M; Étain, B

    2016-12-01

    To examine the pathophysiologic mechanisms that may link circadian disorder and metabolic syndrome in bipolar disorder (BP). A systematic review of the literature was conducted from January 2013 to January 2015, using the Medline and Cochrane databases, using the keywords "metabolic syndrome", "obesity", "leptin" and "circadian disorders", "sleeping disorders" and cross-referencing them with "bipolar disorder". The following types of publications were candidates for review: (i) clinical trials; (ii) studies involving patients diagnosed with bipolar disorder; (iii) studies involving patients with sleeping disorder; or (iv) data about metabolic syndrome. Forty articles were selected. The prevalence of metabolic syndrome in BP was significantly higher compared to the general population (from 36 to 49% in the USA [Vancampfort, 2013]), and could be explained by several factors including reduced exercise and poor diet, genetic vulnerability, frequent depressive episodes, psychiatric comorbidity and psychotropic treatment. This high frequency of metabolic syndrome worsens the prognosis of these patients, increasing morbidity and mortality. Secondly, patients with BP experienced circadian and sleep disturbance, including modification in melatonin secretion. These perturbations are known to persist in periods of mood stabilization and are found in patients' relatives. Circadian disturbances are factors of relapse in bipolar patients, and they may also have a role in the metabolic comorbidities of these patients. Recent studies show that in populations of patients with bipolar disorder, a correlation between circadian disturbance and metabolic parameters are found. To identify the pathophysiological pathway connecting both could lead to a better comprehension of the disease and new therapeutics. In the overall population, mechanisms have been identified linking circadian and metabolic disorder involving hormones like leptin and ghrelin. These hormones are keys to

  17. [Congenital sick sinus syndrome in a healthy heart: case report].

    Science.gov (United States)

    Ben Ameur, Youssef; Hmam, Mohamed; Battikh, Kaïes; Mlika, Azmi; Terras, Mouna; Longo, Salma; Kraïem, Sondes; Slimane, Mohamed L

    2003-06-01

    Isolated congenital sick sinusal syndrome on non harmed heart is a rare affection. Its association with an atrio-ventricular block is exceptional. The authors report a case of a 19 year-old patient, with an early history of bradycardia, hospitalised for effort intolerance. His electrocardiogram reveals a high degree sino-atrial block replaced by a junctional rhythm at 30/mn. During Treadmill test, the sinusal acceleration is satisfactory and an effort atrio-ventricular block was present. He later had a definitive stimulation under DDDR. This report shows that the sinusal node, in the same way as the atrio-ventricular node may be injured by congenital dysimmunitary process. The coexistence of these two conductive troubles worsen the prognosis and should lead more often to the practice of definitive stimulation by the only mode DDDR.

  18. Adiponectin: linking the metabolic syndrome to its cardiovascular consequences.

    Science.gov (United States)

    Rabin, Karen R; Kamari, Yehuda; Avni, Irit; Grossman, Ehud; Sharabi, Yehonatan

    2005-05-01

    Obesity and its related disorders, glucose intolerance, hypertension and hyperlipidemia, collectively named the metabolic syndrome, result in substantial cardiovascular morbidity and mortality. Recent data point to several underlying regulatory mechanisms through which obesity links these various outcomes. Adipose tissue is now understood to function not merely as a passive energy storage depot but as an active endocrine organ, producing a variety of bioactive substances termed adipocytokines. Adiponectin, an adipocytokine first described as the most abundant protein produced by adipocytes, appears to serve as a central regulatory protein in many of the physiologic pathways controlling lipid and carbohydrate metabolism, and to mediate various vascular processes. Adiponectin displays both anti-inflammatory and antiatherogenic properties. Unlike other adipocytokines, its levels are paradoxically decreased in obesity and insulin-resistance states including metabolic syndrome and diabetes, as well as hypertension and coronary artery disease. This review will detail the relationship of adiponectin to various features of obesity and insulin-resistance syndromes, as well as its relationship to the cardiovascular complications of these disorders.

  19. X-linked albinism-deafness syndrome and Waardenburg syndrome type II: A hypothesis

    Energy Technology Data Exchange (ETDEWEB)

    Zlotogora, J. [Hadassah Univ. Hospital, Jerusalem (Israel)

    1995-11-20

    Margolis reported on a large pedigree with a {open_quotes}new{close_quotes} X-linked syndrome of profound deafness and albinism (MIM 300700, albinism-deafness syndrome). The affected males presented with profound deafness and severe pigmentary abnormalities of the skin. At birth the skin appeared as almost albinotic except for areas of light pigmentation over the gluteal and scrotal areas, and thereafter pigmentation gradually increased over the body. Skin changes ultimately included areas of hypopigmentation and spots of hyperpigmentation. Some of the affected males also had blue irides, heterochromia, or segmental color iris changes. In carrier females, variable hearing impairment was documented without any pigmentary changes. 9 refs., 1 fig.

  20. 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.

  1. Direct evidence of complement activation in HELLP syndrome: A link to atypical hemolytic uremic syndrome.

    Science.gov (United States)

    Vaught, Arthur J; Gavriilaki, Eleni; Hueppchen, Nancy; Blakemore, Karin; Yuan, Xuan; Seifert, Sara M; York, Sarah; Brodsky, Robert A

    2016-05-01

    HELLP syndrome (hemolysis, elevated liver enzymes, and low platelets) is a severe variant of pre-eclampsia whose pathogenesis remains unclear. Recent evidence and clinical similarities suggest a link to atypical hemolytic uremic syndrome, a disease of excessive activation of the alternative complement pathway effectively treated with a complement inhibitor, eculizumab. Therefore, we used a functional complement assay, the modified Ham test, to analyze sera of women with classic or atypical HELLP syndrome, pre-eclampsia with severe features, normal pregnancies, and healthy nonpregnant women. Sera were also evaluated using levels of the terminal product of complement activation (C5b-9). We tested the in vitro ability of eculizumab to inhibit complement activation in HELLP serum. Increased complement activation was observed in participants with classic or atypical HELLP compared with those with normal pregnancies and nonpregnant controls. Mixing HELLP serum with eculizumab-containing serum resulted in a significant decrease in cell killing compared with HELLP serum alone. We found that HELLP syndrome is associated with increased complement activation as assessed with the modified Ham test. This assay may aid in the diagnosis of HELLP syndrome and could confirm that its pathophysiology is related to that of atypical hemolytic uremic syndrome.

  2. Assesment of Autonomic Function in Metabolic Syndrome using Combination Heart Rate Variability and Heart Rate Turbulence

    Directory of Open Access Journals (Sweden)

    Gülay Aydın

    2013-12-01

    Full Text Available INTRODUCTION: Metabolic syndrome (MetS is described as a group of various abnormal metabolic risk factors such as obesity, dyslipidemia, increased blood pressure, increased plasma glucose levels, prothrombotic condition and proinflammatory state. These parameters are related to decreased parasympathetic and increased sympathetic activity. We aimed to evaluate autonomic function using a combination with heart rate variability (HRV and heart rate turbulence (HRT in metabolic syndrome to compare non-metabolic syndrome(non-MetS. METHODS: We selected consecutive 50 patients with MetS and 50 patients with healthy non-MetS individuals. All patients underwent 24 hours holter monitoring to evaluate HRT and HRV parameters. RESULTS: Age of patients was not different in two groups. Mean age of MetS patients was 57,50±12,13 and 54,6±10,25 in non- MetS individuals. Sex of patients was non different in MetS compared to non-MetS (37 female and 13 male vs. 22 female, 28 male p<0,05 respectively. SDNN and RMSSD was lower in MetS compared to those without MetS (131,96±49,12 vs 179,59±85,83 p=0,03 and 78,64±35,22 vs 112,73±81,24 p=0,08 respectively. SDANN, pNN50,Mean RR, mean heart rate, count of ventricular premature complex(VPC were not different between two groups. Turbulence Slope(TS was not different in two groups. Turbulence Onset(TO was higher in MetS compared to non-MetS (2,01±15,29 and -6,21±13,5 p=0,005. DISCUSSION AND CONCLUSION: We showed that autonomic function in MetS was impaired using a combination with HRT and HRV. These patients should be followed closely for adverse cardiovascular outcome especially including cardiac arrhythmia.

  3. 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,...

  4. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.

    Science.gov (United States)

    Hills, Christine B; Kochilas, Lazaros; Schimmenti, Lisa A; Moller, James H

    2011-10-01

    Ellis-van Creveld (EVC) syndrome is a rare genetic abnormality that has been linked to a mutation in the EVC or EVC2 genes. Common atrium (CA) is an uncommon cardiac malformation, and yet it is commonly found in patients with EVC. We performed a retrospective review of the cases submitted to the Pediatric Cardiac Care Consortium (PCCC) between 1982 and 2007. A review of the English-language literature for previously published cases, as well as current genetic research findings, was also performed. Thirty-two pediatric patients with congenital heart disease (CHD) and EVC syndrome were identified in the PCCC database. Twenty-eight (88%) had an endocardial cushion defect, with 15 of these having primary failure of atrial septation resulting in CA. Persistent left superior vena cava (LSVC) and pulmonary venous connection abnormalities were common. The incidence of persistent LSVC and pulmonary venous abnormalities were greater than previously reported for patients with EVC. Our study reviews the reported literature and adds 32 additional cases from the PCCC database. Review of the cardiac phenotype in patients with EVC syndrome reveals a characteristic pattern of atrioventricular canal defects with systemic and pulmonary venous abnormalities. The frequent association of these abnormalities is strongly reminiscent of the cardiac phenotype found in patients with heterotaxy syndromes. Emerging molecular and developmental studies suggest that EVC and EVC2 proteins may be important for cilia function, which is implicated in the pathogenesis of heterotaxy syndromes. It is speculated that coordinate function between the EVC proteins is required for a cilia-dependent cardiac morphogenesis.

  5. [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.

  6. "Sagging heart syndrome": a cause of acute lead dislodgment in two patients.

    Science.gov (United States)

    Iskos, D; Lurie, K G; Shultz, J J; Fabian, W H; Benditt, D G

    1999-02-01

    Acute passive fixation atrial lead dislodgment occurred due to an unexpected and marked postural descent of the heart after permanent pacemaker implantation in two patients. Sagging of the heart in these two individuals may have been related to a history of morbid obesity followed by weight loss of over 100 pounds. Lead replacement with active fixation leads was required in both cases. The term "sagging heart syndrome" is proposed to describe this clinical entity. In certain adult populations, such as in patients with a history of significant weight loss, the "sagging heart syndrome" may represent a previously unrecognized cause of acute lead dislodgment.

  7. Heart disease link to fetal hypoxia and oxidative stress.

    Science.gov (United States)

    Giussani, Dino A; Niu, Youguo; Herrera, Emilio A; Richter, Hans G; Camm, Emily J; Thakor, Avnesh S; Kane, Andrew D; Hansell, Jeremy A; Brain, Kirsty L; Skeffington, Katie L; Itani, Nozomi; Wooding, F B Peter; Cross, Christine M; Allison, Beth J

    2014-01-01

    The quality of the intrauterine environment interacts with our genetic makeup to shape the risk of developing disease in later life. Fetal chronic hypoxia is a common complication of pregnancy. This chapter reviews how fetal chronic hypoxia programmes cardiac and endothelial dysfunction in the offspring in adult life and discusses the mechanisms via which this may occur. Using an integrative approach in large and small animal models at the in vivo, isolated organ, cellular and molecular levels, our programmes of work have raised the hypothesis that oxidative stress in the fetal heart and vasculature underlies the mechanism via which prenatal hypoxia programmes cardiovascular dysfunction in later life. Developmental hypoxia independent of changes in maternal nutrition promotes fetal growth restriction and induces changes in the cardiovascular, metabolic and endocrine systems of the adult offspring, which are normally associated with disease states during ageing. Treatment with antioxidants of animal pregnancies complicated with reduced oxygen delivery to the fetus prevents the alterations in fetal growth, and the cardiovascular, metabolic and endocrine dysfunction in the fetal and adult offspring. The work reviewed offers both insight into mechanisms and possible therapeutic targets for clinical intervention against the early origin of cardiometabolic disease in pregnancy complicated by fetal chronic hypoxia.

  8. 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.

  9. Spectral analysis of heart rate and blood pressure variability in primary Sjogren's syndrome

    NARCIS (Netherlands)

    P.J. Barendregt (Pieternella); J.H.M. Tulen (Joke); A.H. van den Meiracker (Anton); H.M. Markusse

    2002-01-01

    textabstractBACKGROUND: Autonomic dysfunction has been described in primary Sjogren's syndrome (SS). OBJECTIVE: To investigate the circulatory autonomic regulation in patients with primary SS by power spectral analysis of heart rate and blood pressure variability. METHODS: Forty th

  10. Heart failure: not a single organ disease but a multisystem syndrome.

    Science.gov (United States)

    Warriner, David; Sheridan, Paul; Lawford, Patricia

    2015-06-01

    Heart failure is not simply a single organ disease; rather it is a complex multi-system clinical syndrome, with impairment of endocrine, haematological, musculoskeletal, renal, respiratory and vascular systems, which influence morbidity and mortality.

  11. 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

    2017-04-01

    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.

  12. Spectral analysis of heart rate and blood pressure variability in primary Sjogren's syndrome

    NARCIS (Netherlands)

    P.J. Barendregt (Pieternella); J.H.M. Tulen (Joke); A.H. van den Meiracker (Anton); H.M. Markusse

    2002-01-01

    textabstractBACKGROUND: Autonomic dysfunction has been described in primary Sjogren's syndrome (SS). OBJECTIVE: To investigate the circulatory autonomic regulation in patients with primary SS by power spectral analysis of heart rate and blood pressure variability. METHODS: Forty th

  13. Extracorporeal membrane oxygenation in children with heart disease and down syndrome: a multicenter analysis.

    Science.gov (United States)

    Gupta, Punkaj; Gossett, Jeffrey M; Rycus, Peter T; Prodhan, Parthak

    2014-12-01

    The data on the outcomes of children with heart disease and Down syndrome receiving extracorporeal membrane oxygenation (ECMO) for cardiac or respiratory failure are limited. This study aimed to evaluate morbidity and mortality associated with ECMO in children with Down syndrome and heart disease. Children younger than 18 years undergoing heart surgery and ECMO reported in the Extracorporeal Life Support Organization (ELSO) registry (1998-2011) were included in the study. The registry was queried for the following five heart defects: common atrioventricular (AV) canal, tetralogy of Fallot, truncus arteriosus, transposition of great vessels, and interrupted aortic arch. Data collection included patient characteristics, ECMO characteristics, and outcomes. The outcomes evaluated included mortality, ECMO duration, and length of hospital stay for patients with Down syndrome and those with no Down syndrome. The study enrolled 2,815 patients qualified for inclusion. Of these patients, 121 had Down syndrome, whereas 2,694 had no genetic syndrome and were included in the control group. The median age of the patients was 45 days (interquartile range [IQR] 9-192 days), and the median weight was 3.8 kg (IQR 3.0-6.1 kg). The most common cardiac defects in Down syndrome group were common AV canal (63 %) and tetralogy of Fallot (40 %). The Down syndrome group included older patients with greater body weight than the control group. The mortality rate was lower in the Down syndrome group than in the control group (44 vs. 56 %; p = 0.01). The duration of ECMO and length of hospital stay were similar in the two groups. The findings showed that ECMO can be used for children with heart disease and Down syndrome with good results. The outcomes were comparable between the children with Down syndrome and the children without Down syndrome.

  14. Heart rate variability during "alarm stage" of burnout syndrome in emergency doctors.

    Science.gov (United States)

    Kotov, A V; Revina, N E

    2012-09-01

    The parameters of heart rate variations were examined in emergency care doctors that demonstrated the initial signs of defensive psychological burnout syndrome related to their professional activity. These parameters were compared within each of two groups with different individual typological features. The differences in the heart rate variability parameters were revealed between the examinees that were at the compensation or alarm stages of the burnout syndrome.

  15. Pulmonary artery dissection in a patient with Eisenmenger syndrome treated with heart and lung transplantation

    DEFF Research Database (Denmark)

    Tønder, Niels; Køber, Lars; Hassager, Christian

    2004-01-01

    We report the case of a patient with known Eisenmenger syndrome due to congenital ventricular septal defect, who developed pulmonary artery dissection. The patient was successfully treated with heart and lung transplantation.......We report the case of a patient with known Eisenmenger syndrome due to congenital ventricular septal defect, who developed pulmonary artery dissection. The patient was successfully treated with heart and lung transplantation....

  16. Congenital heart defects in two siblings in an Axenfeld-Rieger syndrome family.

    Science.gov (United States)

    Akkus, Mehmet Necdet; Argin, Atilla

    2010-04-01

    Axenfeld-Rieger syndrome is a genetically heterogeneous, autosomal dominant disorder characterized by anomalies of the anterior segment of the eye, face, teeth, and umbilicus. Many other extraocular findings, including congenital heart defects, have been reported in association with this syndrome. It has been suggested by some investigators that the coexistence of Axenfeld-Rieger syndrome and congenital heart defects is not a chance event but it represents a distinct entity. We report a family in which four members in three generations have typical ocular features of Axenfeld-Rieger syndrome. Two of them, who are siblings, also have congenital heart defects. The congenital heart defect was bicuspid aortic valve anomaly with severe stenosis and mild regurgitation in one sibling and ostium secundum atrial septal defect in the other. To our knowledge, the combination of congenital heart defects with Axenfeld-Rieger syndrome in siblings has not been reported previously. Our observation further strengthens the notion that Axenfeld-Rieger syndrome associated with congenital heart defects is not a chance event.

  17. Eisenmenger syndrome and long-term survival in patients with Down syndrome and congenital heart disease.

    Science.gov (United States)

    Körten, Marc-André; Helm, Paul C; Abdul-Khaliq, Hashim; Baumgartner, Helmut; Kececioglu, Deniz; Schlensak, Christian; Bauer, Ulrike M M; Diller, Gerhard-Paul

    2016-10-01

    To characterise patients with trisomy 21 (Down syndrome, DS) based on the data of the German National Register for Congenital Heart Defects, to identify changes in the availability of surgical therapy over time and to analyse the impact of these changes on developing Eisenmenger syndrome (ES) as well as survival. Out of 1549 patients with DS with congenital heart disease in the National Register for Congenital Heart Defects, 894 patients (55% female, mean age 17.5 years) had a post-tricuspid shunt lesion (atrioventricular septal defect 69.5%, ventricular septal defect 27.7%, patent arterial duct 2.6%) and were included in the current study. The likelihood of being treated interventionally or surgically before the age of 1 year increased significantly over time. In parallel, the likelihood of developing ES decreased over time (53% birth cohort during 1950s/1960s vs 0.5% birth cohort during 2000-2009, p<0.0001). Overall survival after 1, 10, 20 and 40 years was 96.8%, 94.1%, 92.6% and 75.5%, respectively. Patients with ES had a significantly worse survival compared with those without ES (HR 18.1; 95% CI 7.2 to 45.4; p<0.0001). The availability of surgical correction was associated with a decrease in the likelihood of developing ES. Patients with DS still have reduced survival prospects compared with the general population, but this effect is largely driven by patients developing ES who still have a very poor prognosis. 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/

  18. Cornelia de Lange syndrome: Congenital heart disease in 149 patients.

    Science.gov (United States)

    Ayerza Casas, Ariadna; Puisac Uriol, Beatriz; Teresa Rodrigo, María Esperanza; Hernández Marcos, María; Ramos Fuentes, Feliciano J; Pie Juste, Juan

    2017-06-16

    Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables. A percentage of 34.9 had CHD (septal defects 50%, pulmonary stenosis 27%, aortic coarctation 9.6%). The presence of CHD was related with neonatal hospitalisation (P=.04), hearing loss (P=.002), mortality (P=.09) and lower hyperactivity (P=.02), it being more frequent in HDAC8+ patients (60%), followed by NIPBL+ (33%) and SMC1A+ (28.5%). While septal defects predominate in NIPBL+, pulmonary stenosis is more common in HDAC8+. Patients with CdLS have a high incidence of CHD, which varies according to the affected gene, the most frequent findings being septal defects and pulmonary stenosis. Perform a cardiologic study in all these patients is suggested. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  19. Prognostic factors in patients hospitalized with acute heart failure syndrome

    Institute of Scientific and Technical Information of China (English)

    Liviu Klein; John B. O'Connell

    2006-01-01

    Each year, there are over one million hospitalizations for acute heart failure syndrome (AHFS) in the United States alone,with a similar number in Western Europe. These patients have very high short-term (2-6 months) mortality and readmission rates, while the healthcare system incurs substantial costs. Until recently, the clinical characteristics, management patterns, and outcomes of these patients have been poorly understood and, in consequence, risk stratification for these patients has not been well defined. Several risk prediction models that can accurately identify high-risk patients have been developed in the last year using data from clinical trials, large registries or administrative databases. Use of multi-variable risk models at the time of hospital admission or discharge offers better risk stratification and should be encouraged, as it allows for appropriate allocation of existing resources and development of clinical trials testing new treatment strategies for patients admitted with AHFS. The emerging observation that the prognosis for the ensuing three to six months may be obtained at presentation for AHFS has major implications for development of future therapies.

  20. Prenatal Diagnosis of Non-Syndromic Congenital Heart Defects

    Science.gov (United States)

    Ailes, Elizabeth C.; Gilboa, Suzanne M.; Riehle-Colarusso, Tiffany; Johnson, Candice Y.; Hobbs, Charlotte A.; Correa, Adolfo; Honein, Margaret A.

    2015-01-01

    Objectives Congenital heart defects (CHDs) occur in nearly 1% of live births. We sought to assess factors associated with prenatal CHD diagnosis in the National Birth Defects Prevention Study (NBDPS). Methods We analyzed data from mothers with CHD-affected pregnancies from 1998–2005. Prenatal CHD diagnosis was defined as affirmative responses to questions about abnormal prenatal ultrasounds and/or fetal echocardiography obtained during a structured telephone interview. Results Fifteen percent (1,097/7,299) of women with CHD-affected pregnancies (excluding recognized syndromes and single-gene disorders) reported receiving a prenatal CHD diagnosis. Prenatal CHD diagnosis was positively associated with advanced maternal age, family history of CHD, type 1 or type 2 diabetes, twin or higher order gestation, CHD complexity and presence of extracardiac defects. Prenatal CHD diagnosis was inversely associated with maternal Hispanic race/ethnicity, prepregnancy overweight or obesity, and pre-existing hypertension. Prenatal CHD diagnosis varied by time to NBDPS interview and NBDPS study site. Conclusions Further work is warranted to identify reasons for the observed variability in maternal reports of prenatal CHD diagnosis and the extent to which differences in health literacy or health system factors such as access to specialized prenatal care and/or fetal echocardiography may account for such variability. PMID:24222433

  1. Survival of Children With Hypoplastic Left Heart Syndrome

    Science.gov (United States)

    Siffel, Csaba; Riehle-Colarusso, Tiffany; Oster, Matthew E.; Correa, Adolfo

    2015-01-01

    OBJECTIVE To examine the survival of infants with hypoplastic left heart syndrome (HLHS) and potential influence of demographic and clinical characteristics on survival using population-based data. METHODS Infants with nonsyndromic HLHS (n = 212) born between 1979 and 2005 were identified through the Metropolitan Atlanta Congenital Defects Program. Vital status was ascertained through 2009 based on linkage with vital records. We estimated Kaplan-Meier survival probabilities stratified by select demographic and clinical characteristics. RESULTS The overall survival probability to 2009 was 24% and significantly improved over time: from 0% in 1979–1984 to 42% in 1999–2005. Survival probability was 66% during the first week, 27% during the first year of life, and 24% during the first 10 years. Survival of very low and low birth weight or preterm infants and those born in high-poverty neighborhoods was significantly poorer. For children with information on surgical intervention (n = 88), the overall survival was 52%, and preterm infants had significantly poorer survival (31%) compared with term infants (56%). For children who survived to 1 year of age, long-term survival was ~90%. CONCLUSIONS Survival to adolescence of children with nonsyndromic HLHS born in metropolitan Atlanta has significantly improved in recent years, with those born full term, with normal birth weight, or in a low-poverty neighborhood having a higher survival probability. Survival beyond infancy to adolescence is high. A better understanding of the growing population of survivors with HLHS is needed to inform resource planning. PMID:26391936

  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. Left thoracic sympathectomy in a premature infant with long QT syndrome and heart failure.

    Science.gov (United States)

    Surendran, Sushitha; Kumar, Thittamaranahalli K S; Knott-Craig, Christopher J

    2017-01-01

    Left thoracic sympathectomy has been shown to be an effective treatment for adults with long QT syndrome who are refractory to medical therapy. We report the successful use of left thoracic sympathectomy for the management of a 10-week-old premature baby with long QT syndrome and heart failure from a large ventricular septal defect and patent ductus arteriosus.

  4. ASSOCIATION BETWEEN HEART RATE VARIABILITY AND COMPONENTS OF THE METABOLIC SYNDROME IN WOMEN WITH RHEUMATOID ARTHRITIS

    Directory of Open Access Journals (Sweden)

    D. S. Novikova

    2014-01-01

    Full Text Available Aim. To study the relationship between heart rate variability (HRV and components of the metabolic syndrome (MS in women with rheumatoid arthritis (RA.Material and methods. Female patients (n=291 with a firm RA diagnosis under 60 years of age were examined. Evaluation of traditional cardiovascular risk factors, MS components (International Diabetes Federation criteria, 24-hour ECG monitoring were performed along with the assessment of clinical symptoms, the degree of activity and severity of RA.Results. Weak associations of HRV with waist circumference, blood pressure level, hypertriglyceridemia, hypoalphalipoproteinemia and smoking were found in the correlation analysis. Patients with RA were divided into three groups depending on the number of existing MS components. Group 1 (0-1 component included 113 women (39%, group 2 (2-3 components – 109 women (37% and group 3 (4-5 components – included 69 women with RA (24%. Progressive decrease in the absolute values and the increase in the percentage of the low values of all the studied time and frequency HRV indices, adjusted by age and heart rate, from the 1st to the 3rd group of women with RA were determined. Significant increase in sympathovagal index from the 1st to the 3rd group was also shown.Conclusion. A combination of several components of the MS in RA plays a greater role in the development of disorders of neurovegetative autonomic control of heart activity (increased influence of the sympathetic and/or reduced influence of the parasympathetic nervous system on cardiac function than each traditional cardiovascular risk factor taken separately. Abnormality in autonomic regulation of cardiac activity may be an important link in the pathogenesis of cardiac arrhythmias, sudden cardiac death and overall cardiovascular mortality in women with RA.

  5. Cardiac rehabilitation programs improve metabolic parameters in patients with the metabolic syndrome and coronary heart disease.

    Science.gov (United States)

    Pérez, Ignacio P; Zapata, Maria A; Cervantes, Carlos E; Jarabo, Rosario M; Grande, Cristina; Plaza, Rose; Garcia, Sara; Rodriguez, Miriam L; Crespo, Silvia; Perea, Jesús

    2010-05-01

    This study was performed to determine the effectiveness of a cardiac rehabilitation and exercise training program on metabolic parameters and coronary risk factors in patients with the metabolic syndrome and coronary heart disease. The study involved 642 patients with coronary heart disease. Of them, 171 (26.7%) fulfilled criteria for the metabolic syndrome. Clinical data, laboratory tests, and exercise testing were performed before and after the program, which lasted 2 to 3 months. Except for waist circumference, there were no significant differences between groups; blood pressure, high-density lipoprotein cholesterol, triglycerides, and fasting glucose improvements during the follow-up were higher in patients with the metabolic syndrome (all Pmetabolic syndrome, functional capacity increased by 26.45% ( Pmetabolic equivalents, with a slight increase of 1.25% ( P=not significant) in the double product. Patients with the metabolic syndrome who took part in this secondary prevention program reported improvements in cardiovascular risk profile and functional capacity.

  6. Electrical storm in the brain and in the heart: epilepsy and Brugada syndrome.

    Science.gov (United States)

    Sandorfi, Gabor; Clemens, Bela; Csanadi, Zoltan

    2013-10-01

    We describe a patient with the coincidence of 2 ion channel disorders with autosomal dominant inheritance: Brugada syndrome, a potentially fatal cardiac condition, and cryptogenic focal epilepsy, likely due to a neurologic channelopathy. Although Brugada syndrome was discovered incidentally, most of the clinical features of epilepsy in this patient shared the risk factor characteristics of sudden unexplained death in epilepsy syndrome. This case provides additional information on the potential interaction between ion channel abnormalities in the heart and in the brain. Furthermore, it may suggest that patients with epilepsy at increased risk for sudden unexplained death in epilepsy syndrome should undergo a careful cardiac evaluation.

  7. Geographic clustering of emergency department presentations for acute coronary syndromes and heart failure in Alberta: a population-based study.

    Science.gov (United States)

    Rosychuk, Rhonda J; Rowe, Brian H; McAlister, Finlay A

    2017-05-18

    Collectively, the most common acute cardiac presentations to emergency departments are acute coronary syndromes (ACSs) and heart failure. We examined geographic variation and clustering in emergency department presentations by adults for ACS or heart failure in Alberta in 2010/11. All emergency department presentations for ACS or heart failure made by Alberta residents aged 35 years or more during 2010/11 were extracted from 5 linked population-based Alberta administrative health databases. Data extracted included demographic characteristics, hospital admissions and physician claims. Spatial scan tests and logistic regression analyses were performed. There were 6342 patients with ACS (mean age 65.9 yr, 63.1% male) and 4780 patients with heart failure (mean age 76.6 yr, 49.9% male). For both ACS and heart failure, a primary cluster and 2 secondary clusters were identified. Different clusters were identified for the 2 conditions. For both conditions, patients living in the clusters had more primary care physician claims, prior emergency department visits and prior hospital admissions than did patients living outside the clusters. However, they were less likely to have had a specialist claim in the prior 2 years (odds ratio 0.64 [95% confidence interval 0.56-0.73] for ACS and 0.51 [95% confidence interval 0.43-0.61] for heart failure). Geographic areas were identified with higher numbers than expected of patients presenting to the emergency department for ACS or heart failure. Lower specialist access in these areas was associated with increased emergency department use. Copyright 2017, Joule Inc. or its licensors.

  8. Peutz-Jeghers syndrome and cancer linked by LKB1

    NARCIS (Netherlands)

    S.E. Korsse (Susanne)

    2013-01-01

    textabstractPeutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder, characterized by mucocutaneous pigmentations, hamartomas presenting as gastrointestinal polyps, and an increased cancer risk.

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

    Science.gov (United States)

    Clement, Lionel C; Macé, Camille; Avila-Casado, Carmen; Joles, Jaap A; Kersten, Sander; Chugh, Sumant 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 minimal change disease, we observed localized secretion by podocytes of hyposialylated Angptl4, a pro-proteinuric form of the protein. But in this study we noted high serum levels of Angptl4 (presumably normosialylated based on a neutral isoelectric point) in other glomerular diseases as well. Circulating Angptl4 was secreted by extrarenal organs in response to an elevated plasma ratio of free fatty acids (FFAs) to albumin when proteinuria reached nephrotic range. In a systemic feedback loop, these circulating pools of Angptl4 reduced proteinuria by interacting with glomerular endothelial αvβ5 integrin. Blocking the Angptl4–β5 integrin interaction or global knockout of Angptl4 or β5 integrin delayed recovery from peak proteinuria in animal models. But at the same time, in a local feedback loop, the elevated extrarenal pools of Angptl4 reduced tissue FFA uptake in skeletal muscle, heart and adipose tissue, subsequently resulting in hypertriglyceridemia, by inhibiting lipoprotein lipase (LPL)-mediated hydrolysis of plasma triglycerides to FFAs. Injecting recombinant human ANGPTL4 modified at a key LPL interacting site into nephrotic Buffalo Mna and Zucker Diabetic Fatty rats reduced proteinuria through the systemic loop but, by bypassing the local loop, without increasing plasma triglyceride levels. These data show that increases in circulating Angptl4 in response to nephrotic-range proteinuria reduces the degree of this pathology, but at the cost of inducing hypertriglyceridemia, while also suggesting a possible therapy to treat these linked pathologies. PMID:24317117

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

    DEFF Research Database (Denmark)

    Nieminen, Markku S; Buerke, Michael; Cohen-Solál, Alain

    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 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...

  11. 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...

  12. 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.

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

    OpenAIRE

    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

    2009-01-01

    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 ...

  14. Apparently previously undescribed X-linked dominant syndrome with facial and skeletal anomalies.

    Science.gov (United States)

    Kapur, S; Swinford, A; Freimanis, A K; Lachman, R S

    1989-07-01

    We report on a syndrome of widow's peak, ptosis, skeletal abnormalities and other minor anomalies in a large family. The condition appears to be inherited in an X-linked dominant fashion. No similar cases have been found in the literature, suggesting that this is a "new" syndrome. Study of 5 generations of the family documents information on the natural history of the condition.

  15. Treacher Collins syndrome with multiple congenital heart defects after paroxetine exposure: case report.

    Science.gov (United States)

    Dinlen, N; Zenciroğlu, A; Dilli, D; Aydin, B; Beken, S; Okumuş, N

    2014-01-01

    Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development with an incidence of I in 40,000 to in 70,000 live births. It is characterized by abnormalities of the pinnae which are frequently associated with atresia of the external auditory canals and anomalies of the middle ear ossicles. Rarely congenital heart defects can be present. Prenatal paroxetine exposure may enhance the risks of major malformation, particularly cardiac defects. This article reports a newborn, whose mother used paroxetine during pregnancy, presenting with multiple congenital heart defects associated to typical physical characteristics of Treacher Collins syndrome.

  16. Relation of impaired interorgan communication and parasympathetic activity in chronic heart failure and multiple-organ dysfunction syndrome.

    Science.gov (United States)

    Schmidt, H; Lotze, U; Ghanem, A; Anker, S D; Said, S M; Braun-Dullaeus, R; Oltmanns, G; Rose, S; Buerke, M; Müller-Werdan, U; Werdan, K; Rauchhaus, M

    2014-06-01

    We investigated the relationship of impaired autonomic function and severity of illness in chronic heart failure (CHF) and multiple-organ dysfunction syndrome (MODS) as an end stage of CHF. Furthermore, we assessed the link of parasympathetic modulation of the heart rate and inflammatory activation in CHF and MODS. Sixty-five patients admitted for worsening of CHF were retrospectively enrolled in this study. In addition, 65 age- and sex-matched patients with pronounced MODS were assigned for comparison of autonomic function and C-reactive protein in patients with CHF or MODS, respectively. Heart rate variability (HRV) parameters of the time and frequency domain as markers of autonomic function were analyzed from 24-hour Holter electrocardiograms. The more pronounced the severity of illness as expressed by the Acute Physiology and Chronic Health Evaluation score, the more the HRV was impaired. This effect was particularly seen for overall variability (SD of RR intervals) and HRV parameters characterizing the parasympathetic modulations of the heart rate (high, very low frequency power). C-reactive protein levels as markers of inflammation were inversely related to high and very low frequencies. Our results allow for speculation that autonomic dysfunction in CHF indicates a beginning of uncoupled interorgan communication potentially leading to MODS as characterized by disruption of communication between the organs. Copyright © 2014 Elsevier Inc. All rights reserved.

  17. The complexity of the cardio-renal link : taxonomy, syndromes, and diseases

    NARCIS (Netherlands)

    Zoccali, Carmine; Goldsmith, David; Agarwal, Rajiv; Blankestijn, Peter J.; Fliser, Danilo; Wiecek, Andrzej; Suleymanlar, Gultekin; Ortiz, Alberto; Massy, Ziad; Covic, Adrian; Martinez-Castelao, Alberto; Jager, Kitty J.; Dekker, Friedo W.; Lindholm, Bengt; London, Gerard

    2011-01-01

    Bidirectional mechanisms exist that link diseases affecting the heart and kidney. This link is complex and remains poorly understood; therefore, charting the shared territory of cardiovascular (CV) and renal medicine poses major problems. Until now, no convincing rationale for delineating new syndro

  18. The complexity of the cardio-renal link : taxonomy, syndromes, and diseases

    NARCIS (Netherlands)

    Zoccali, Carmine; Goldsmith, David; Agarwal, Rajiv; Blankestijn, Peter J.; Fliser, Danilo; Wiecek, Andrzej; Suleymanlar, Gultekin; Ortiz, Alberto; Massy, Ziad; Covic, Adrian; Martinez-Castelao, Alberto; Jager, Kitty J.; Dekker, Friedo W.; Lindholm, Bengt; London, Gerard

    2011-01-01

    Bidirectional mechanisms exist that link diseases affecting the heart and kidney. This link is complex and remains poorly understood; therefore, charting the shared territory of cardiovascular (CV) and renal medicine poses major problems. Until now, no convincing rationale for delineating new syndro

  19. Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome

    DEFF Research Database (Denmark)

    Therkildsen, C; Ladelund, S; Rambech, E

    2015-01-01

    BACKGROUND AND PURPOSE: Brain tumors represent a rare and relatively uncharacterized tumor type in Lynch syndrome. METHODS: The national Danish Hereditary Nonpolyposis Colorectal Cancer Register was utilized to estimate the cumulative life-time risk for brain tumors in Lynch syndrome...... staining suggestive of the IDH1 R132H mutation. CONCLUSION: In Lynch syndrome brain tumors occurred in 14% of the families with significantly higher risks for individuals with MSH2 gene mutations and development of childhood brain tumors in individuals with constitutional MMR defects....

  20. Syndromic and non-syndromic disease-linked Cx43 mutations.

    Science.gov (United States)

    Laird, Dale W

    2014-04-17

    There are now at least 14 distinct diseases linked to germ line mutations in the 21 genes that encode the connexin (Cx) family of gap junction proteins. This review focuses on the links between germ-line mutations in the gene encoding Cx43 (GJA1) and the human disease termed oculodentodigital dysplasia (ODDD). This disease is clinically characterized by soft tissue fusion of the digits, abnormal craniofacial bone development, small eyes and loss of tooth enamel. However, the disease is considerably more complex and somewhat degenerative as patients often suffer from other syndromic effects that include incontinence, glaucoma, skin diseases and neuropathies that become more pronounced during aging. The challenge continues to be understanding how distinct Cx43 gene mutations cause such a diverse range of tissue phenotypes and pathophysiological changes while other Cx43-rich organs are relatively unaffected. This review will provide an overview of many of these studies and distill some themes and outstanding questions that need to be addressed in the coming years. Copyright © 2014 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.

  1. Combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in Meckel-Gruber syndrome: a case report.

    Science.gov (United States)

    Taweevisit, Mana; Treetipsatit, Jitsupa; Tantbirojn, Patou; Thorner, Paul Scott

    2009-01-01

    Meckel-Gruber syndrome (MKS) is a fatal, autosomal recessive disorder characterized by malformation of central nervous system, particularly occipital encephalocele, bilateral renal dysplasia, and polydactyly. However, the clinical findings of this syndrome encompass various organ abnormalities as a result of genetic heterogeneity. The associated heart anomaly in MKS is inconstant. Its prevalence is rare and no striking or specific cardiac defects have been documented. We present a case of MKS with combined cor triatriatum sinistrum (left atrium divided into upper and lower compartment by a thin membrane) and hypoplastic left heart syndrome (underdeveloped mitral valve, left ventricle, and aorta) in a 33-week male fetus that was ultrasonographically detected and confirmed by autopsy. In addition to the cardiac defects, the patient was found to have postaxial polydactyly of 4 extremities, Dandy-Walker malformation, bilateral renal cystic dysplasia, and hepatic plate malformation. To the best of our knowledge, this is the first time that a combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in MKS has been reported in the literature.

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

    Science.gov (United States)

    Sih, Andrew; Del Giudice, Marco

    2012-10-01

    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.

  3. THE INFLUENCE OF METABOLIC SYNDROME ON HEART ABNORMALITIES IN PATIENTS WITH ARTERIAL HYPERTENSION

    Directory of Open Access Journals (Sweden)

    G. Kh. Sharipova

    2015-01-01

    Full Text Available Aim: To evaluate structural and functional heart abnormalities in patients with arterial hypertension (AH with and without metabolic syndrome.Materials and methods: The study included 303  patients with AH I, II and III, aged from 25 to  70  years (mean±SD 52±18 years. All patients were categorized into 3 groups according to severity of AH (AH I, II and III corresponded to groups 1, 2 and 3, respectively. Within each group, patients were subdivided into 2 subgroups: without metabolic syndrome (n=151 and with metabolic syndrome (n=152. Assessments included measurements of blood glucose and lipids, 24-hour monitoring of blood pressure, echocardiography with calculation of myocardial mass index of left ventricle and the use of conventional and tissue myocardial dopplerography.Results: Already at early stage of AH (gr. I, 60% patients with metabolic syndrome and 32% patients without metabolic abnormalities had some degree of left ventricular remodeling, including concentric type of remodeling in 12 and 20%, excentric hypertrophy in 18 and 6%, concentric left ventricular hypertrophy in 30 and 6%, respectively. In AH I, an increase of myocardial mass index of left ventricle was found in 39% of patients with metabolic syndrome and in 12% patients without it. In patients with AH I, abnormalities of left ventricular diastolic function according to the results of tissue myocardial dopplerography was seen in 82% of patients with metabolic syndrome and in 42% of patients without metabolic syndrome. Patients with AH I–III and metabolic syndrome had almost 5-fold higher probability of heart abnormalities than AH patients without metabolic disturbances (odds ratio 4.8, 95% confidence interval 1.9–6.4, p< 50 and>50 years.Conclusion: Metabolic syndrome contributes to heart abnormalities irrespective of gender, age and AH grade. 

  4. Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-07-01

    Full Text Available Abstract The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population. The syndrome is associated with mild to moderate mental retardation, distinct facial dysmorphism (long narrow face, maxillary hypoplasia, small mandible and prominent forehead, tall marfanoid stature and long slender extremities, and behavioural problems. The genetic defect is not known. The diagnosis is based on the presence of the clinical manifestations. Genetic counselling is according to X-linked recessive inheritance. Prenatal testing is not possible. There is no specific treatment for this condition. Patients need special education and psychological follow-up, and attention should be given to diagnose early psychiatric disorders.

  5. Heart failure and cardiogenic shock associated with the TB-immune reconstitution inflammatory syndrome.

    Science.gov (United States)

    Kenyon, Chris; Schrueder, Neshaad; Ntsekhe, Mpiko; Meintjes, Graeme

    2012-04-12

    Heart failure has not been described in the setting of TB-immune reconstitution inflammatory syndrome (IRIS). We describe a case of cardiogenic shock in the setting of TB-IRIS four weeks after commencement of antiretroviral therapy. Possible aetiologies and pathophysiology as well as suggested diagnostic and therapeutic approaches to this problem are discussed.

  6. 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...

  7. Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association.

    OpenAIRE

    1988-01-01

    We report a sibship of two brothers and one sister with the osteoporosis-pseudoglioma syndrome and congenital heart disease. They presented in infancy with visual impairment and psychomotor retardation. Major features included bilateral cataracts, generalised osteopenia, severe platyspondyly, borderline mental retardation, muscular hypotonia, joint laxity, and ventricular septal defect. Parental consanguinity and affected sibs of both sexes strongly suggested autosomal recessive inheritance. ...

  8. 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…

  9. Effect of Congenital Heart Defects on Language Development in Toddlers with Down Syndrome

    Science.gov (United States)

    Visootsak, J.; Hess, B.; Bakeman, R.; Adamson, L. B.

    2013-01-01

    Background: Down syndrome (DS, OMIM #190685) is the most commonly identified genetic form of intellectual disability with congenital heart defect (CHD) occurring in 50% of cases. With advances in surgical techniques and an increasing lifespan, this has necessitated a greater understanding of the neurodevelopmental consequences of CHDs. Herein, we…

  10. Heart Rate Complexity in Response to Upright Tilt in Persons with Down Syndrome

    Science.gov (United States)

    Agiovlasitis, Stamatis; Baynard, Tracy; Pitetti, Kenneth H.; Fernhall, Bo

    2011-01-01

    People with Down syndrome (DS) show altered autonomic response to sympatho-excitation. Cardiac autonomic modulation may be examined with heart rate (HR) complexity which is associated uniquely with cardiovascular risk. This study examined whether the response of HR complexity to passive upright tilt differs between persons with and without DS and…

  11. 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…

  12. Life and Death of a Child with Down Syndrome and a Congenital Heart Condition: Experiences of Six Couples

    Science.gov (United States)

    Reilly, Deirdre; Huws, Jaci; Hastings, Richard; Vaughan, Frances

    2010-01-01

    Individuals with Down syndrome are at increased risk of congenital heart conditions (CHCs), and mortality is higher in people with Down syndrome and a CHC than those without (J. C. Vis et al., 2009). As a consequence, parents of children with Down syndrome and a CHC are more likely to outlive their child. In this research, semistructured…

  13. Heart involvement in systemic lupus erythematosus, anti-phospholipid syndrome and neonatal lupus.

    Science.gov (United States)

    Tincani, A; Rebaioli, C B; Taglietti, M; Shoenfeld, Y

    2006-10-01

    Cardiac involvement is one of the main complications substantially contributing to the morbidity and mortality of patients suffering from systemic autoimmune diseases. All the anatomical heart structures can be affected, and multiple pathogenic mechanisms have been reported. Non-organ-specific autoantibodies have been implicated in immune complex formation and deposition as the initial triggers for inflammatory processes responsible for Libman-Sacks verrucous endocarditis, myocarditis and pericarditis. Anti-phospholipid antibodies have been associated with thrombotic events in coronary arteries, heart valve involvement and intra-myocardial vasculopathy in the context of primary and secondary anti-phospholipid syndrome. Antibodies-SSA/Ro and anti-SSB/La antigens play a major pathogenic role in affecting the heart conduction tissue leading to the electrocardiographic abnormalities of the neonatal lupus syndrome and have been closely associated with endocardial fibroelastosis.

  14. 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.

  15. Angelman syndrome and isovaleric acidemia: What is the link?

    Directory of Open Access Journals (Sweden)

    Alix Lambrecht

    2015-06-01

    Full Text Available We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA. Such association was due to paternal uniparental isodisomy (UPD of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both diseases may have severe impact on neurodevelopment, adequate treatment of IVA should be discussed. In our patient however, the variant identified likely causes asymptomatic organic aciduria. Such findings emphasize that paternal UPD 15 can rarely lead to co-occurrence of Angelman syndrome and potentially treatable inborn errors of metabolism.

  16. 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...

  17. Growth hormone and the heart in Noonan syndrome

    NARCIS (Netherlands)

    Noordam, C.

    2009-01-01

    BACKGROUND: The clinical hallmarks of Noonan syndrome (NS) are facial dysmorphism, short stature and cardiac defects. As one of the common cardiac defects in NS is hypertrophic cardiomyopathy, there have been concerns regarding cardiac safety since the start of human growth hormone (hGH) therapy for

  18. Growth hormone and the heart in Noonan syndrome

    NARCIS (Netherlands)

    Noordam, C.

    2009-01-01

    BACKGROUND: The clinical hallmarks of Noonan syndrome (NS) are facial dysmorphism, short stature and cardiac defects. As one of the common cardiac defects in NS is hypertrophic cardiomyopathy, there have been concerns regarding cardiac safety since the start of human growth hormone (hGH) therapy for

  19. Current Surgical Outcomes of Congenital Heart Surgery for Patients With Down Syndrome in Japan.

    Science.gov (United States)

    Hoashi, Takaya; Hirahara, Norimichi; Murakami, Arata; Hirata, Yasutaka; Ichikawa, Hajime; Kobayashi, Junjiro; Takamoto, Shinichi

    2017-09-12

    Current surgical outcomes of congenital heart surgery for patients with Down syndrome are unclear.Methods and Results:Of 29,087 operations between 2008 and 2012 registered in the Japan Congenital Cardiovascular Surgery Database (JCCVSD), 2,651 were carried out for patients with Down syndrome (9%). Of those, 5 major biventricular repair procedures [ventricular septal defect repair (n=752), atrioventricular septal defect repair (n=452), patent ductus arteriosus closure (n=184), atrial septal defect repair (n=167), tetralogy of Fallot (TOF) repair (n=108)], as well as 2 major single ventricular palliations [bidirectional Glenn (n=21) and Fontan operation (n=25)] were selected and their outcomes were compared. The 90-day and in-hospital mortality rates for all 5 major biventricular repair procedures and bidirectional Glenn were similarly low in patients with Down syndrome compared with patients without Down syndrome. On the other hand, mortality after Fontan operation in patients with Down syndrome was significantly higher than in patients without Down syndrome (42/1,558=2.7% vs. 3/25=12.0%, P=0.005). Although intensive management of pulmonary hypertension is essential, analysis of the JCCVSD revealed favorable early prognostic outcomes after 5 major biventricular procedures and bidirectional Glenn in patients with Down syndrome. Indication of the Fontan operation for patients with Down syndrome should be carefully decided.

  20. 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...... 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...... for histologic subtype, hierarchical clustering confirmed distinct differences related to heredity in the endometrioid and serous subtypes. Furthermore, separate clustering was achieved in an independent, publically available data set. The distinct genetic signatures in Lynch syndrome-associated and sporadic...

  1. Role of sirtuins in linking metabolic syndrome with depression

    OpenAIRE

    Juhyun eSong; JONGPIL eKIM

    2016-01-01

    Depression is now widely regarded as a common disabling disorder that affects negatively the social functioning all over the world. Depression is associated with diverse phenomenon in brain such as neuroinflammation, synaptic dysfunction, and cognitive deficit. Recent studies reported that depression occurs by various metabolic changes, leading to metabolic syndrome. Sirtuins are NAD+-dependent class III histone deacetylases, known to regulate diverse biological mechanism such as longevity, g...

  2. The microbiota link to irritable bowel syndrome: An emerging story

    OpenAIRE

    2012-01-01

    Irritable Bowel Syndrome (IBS) is a clinically heterogeneous disorder which is likely to involve a number of causative factors. The contribution of altered intestinal microbiota composition or function to this disorder is controversial, and is the subject of much current research. Until recently, the technical limitations of the methodologies available have not permitted an adequate survey of low-abundance microbial species. Recent technological developments have enabled the analysis of the g...

  3. 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.

  4. 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.

  5. 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.

  6. Isolated cardiac involvement in primary amyloidosis: presenting as sick sinus syndrome and heart failure.

    Science.gov (United States)

    Pattanshetty, Deepak J; Bhat, Pradeep K; Chamberlain, Wendy A; Lyons, Matthew R

    2013-01-01

    Cardiac amyloidosis is an infiltrative cardiomyopathy with a grave prognosis. Its clinical manifestations include restrictive cardiomyopathy, diastolic heart failure, conduction defects, and arrhythmias. Isolated cardiac involvement and significant conduction disturbances are reported very infrequently. We report a rare case of isolated cardiac involvement in primary amyloidosis, in a 76-year-old man who initially presented with sick sinus syndrome that necessitated permanent pacemaker insertion. Subsequent symptoms of heart failure led to additional evaluation, including an endomyocardial biopsy that revealed primary cardiac amyloidosis. Medical therapy improved the patient's symptoms, and he was discharged from the hospital in stable condition. In addition to discussing the patient's case, we review the relevant medical literature.

  7. Genetic analysis of Down syndrome-associated heart defects in mice

    OpenAIRE

    Liu, Chunhong; Morishima, Masae; Yu, Tao; Matsui, Sei-ichi; ZHANG Li; Fu, Dawei; Pao, Annie; Costa, Alberto C.; Gardiner, Katheleen J.; Cowell, John K; Nowak, Norma J; Parmacek, Michael S.; Liang, Ping; Baldini, Antonio; Yu, Y. Eugene

    2011-01-01

    Human trisomy 21, the chromosomal basis of Down syndrome (DS), is the most common genetic cause of heart defects. Regions on human chromosome 21 (Has21) are syntenically conserved with three regions located on mouse chromosome 10 (Mmu10), Mmu16 and Mmu17. In this study, we have analyzed the impact of duplications of each syntenic region on cardiovascular development in mice and have found that only the duplication on Mmu16, i.e., Dp(16)1Yey, is associated with heart defects. Furthermore, we g...

  8. 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.

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

    Science.gov (United States)

    Tain, You-Lin; Hsu, Chien-Ning; Chan, Julie Y. H.

    2015-01-01

    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. PMID:26712739

  10. Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association.

    Science.gov (United States)

    Teebi, A S; Al-Awadi, S A; Marafie, M J; Bushnaq, R A; Satyanath, S

    1988-01-01

    We report a sibship of two brothers and one sister with the osteoporosis-pseudoglioma syndrome and congenital heart disease. They presented in infancy with visual impairment and psychomotor retardation. Major features included bilateral cataracts, generalised osteopenia, severe platyspondyly, borderline mental retardation, muscular hypotonia, joint laxity, and ventricular septal defect. Parental consanguinity and affected sibs of both sexes strongly suggested autosomal recessive inheritance. Analysis of the present and previously reported cases showed a wide range of interfamilial variability which may point to the existence of multiple allelism or genetic heterogeneity in this syndrome.

  11. 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.

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

    Science.gov (United States)

    VanWormer, Jeffrey J; Boucher, Jackie L; Sidebottom, Abbey C; Sillah, Arthur; Knickelbine, Thomas

    2017-06-01

    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 metabolic syndrome over the two-year study timeframe.

  13. What ever happened to developmental Gerstmann's syndrome? Links to other pediatric, genetic, and neurodevelopmental syndromes.

    Science.gov (United States)

    Miller, Carlin J; Hynd, George W

    2004-04-01

    Developmental Gerstmann's syndrome is a neurodevelopmental disorder infrequently described in the literature. The limited literature might result from controversy surrounding developmental Gerstmann's syndrome as a "true syndrome." Developmental Gerstmann's syndrome requires a tetrad of symptoms: left-right confusion, finger agnosia, dyscalculia, and dysgraphia, with constructional dyspraxia often included as a fifth symptom. The etiology of developmental Gerstmann's syndrome is unknown, but several hypotheses have been proposed, and none have been conclusively confirmed. Based on the paucity of recent research on developmental Gerstmann's syndrome, individuals who meet the criteria for the disorder could be given other diagnoses. A clustering of neuropsychologic features across other seemingly related disorders suggests that the conceptualization of the tetrad of symptoms traditionally associated with developmental Gerstmann's syndrome more appropriately reflects soft signs that are commonly associated with a number of other neurodevelopmental disorders. Thus, although developmental Gerstmann's syndrome is of historical interest to neurodevelopmental specialists, there appears to be no basis for considering this disorder as a unique syndrome.

  14. Thyroxine treatment for elderly patients with heart failure and sick euthyroid syndrome

    Institute of Scientific and Technical Information of China (English)

    Yi ZHU; Ling GONG; Kailei SHI; Jin LI; Zhaohui QIU; Wenliang LU; Yu ZHANG; Jianying YANG

    2006-01-01

    Objectives To evaluate the effect of thyroid hormone therapy with low dose of thyroxin on cardiac function in elderly patients with heart failure and sick euthyroid syndrome. Methods Forty-seven patients (33 males and 14 females, mean age 85.9+4.6 years,ranging from 80 to 99 years) with chronic heart failure (NYHA Ⅱ-Ⅳ) and low triiodothyronine (T3) state were randomly allocated to the treatment group or control group. The treatment group patients received oral administration of levothyroxine sodium (Euthyrox) 25-50mg/d in addition to conventional therapy of heart failure, whereas patients in control group were given conventional therapy only. Serum level of total T3 (TT3), free T3 (FT3), total thyroxine (TT4), free thyroxine (FT4), and thyroid-stimulating hormone (TSH) were determined. For both groups, left ventricular ejection fraction (LVEF) and stroke volume (SV) were assessed by two-dimensional echocardiography before and at 8 weeks after treatment. The changes of these parameters after the treatment were evaluated by adjusting heart rate in the two groups. Results The reduced serum T3 level in the treatment group was corrected after thyroid hormone therapy,and these patients had a significant improvement in cardiac function after treatment. By contrast, in the control group only changes of serum TT3 and TT4 levels and SV and LVEF after treatment were statistically significant. The heart rate-adjusted mean SV and LVEF in both groups were also increased, which was significantly greater in the treatment group than in the control group. Conclusion In the elderly patients with heart failure and sick euthyroid syndrome, addition of thyroxine at a low dosage to the conventional treatment could effectively improve the low T3 state and cardiac function independent of changes of heart rate.

  15. Spectral Heart Rate Variability analysis using the heart timing signal for the screening of the Sleep Apnea-Hypopnea Syndrome.

    Science.gov (United States)

    Alvarez-Estevez, Diego; Moret-Bonillo, Vicente

    2016-04-01

    Some approaches have been published in the past using Heart Rate Variability (HRV) spectral features for the screening of Sleep Apnea-Hypopnea Syndrome (SAHS) patients. However there is a big variability among these methods regarding the selection of the source signal and the specific spectral components relevant to the analysis. In this study we investigate the use of the Heart Timing (HT) as the source signal in comparison to the classical approaches of Heart Rate (HR) and Heart Period (HP). This signal has the theoretical advantage of being optimal under the Integral Pulse Frequency Modulation (IPFM) model assumption. Only spectral bands defined as standard for the study of HRV are considered, and for each method the so-called LF/HF and VLFn features are derived. A comparative statistical analysis between the different resulting methods is performed, and subject classification is investigated by means of ROC analysis and a Naïve-Bayes classifier. The standard Apnea-ECG database is used for validation purposes. Our results show statistical differences between SAHS patients and controls for all the derived features. In the subject classification task the best performance in the testing set was obtained using the LF/HF ratio derived from the HR signal (Area under ROC curve=0.88). Only slight differences are obtained due to the effect of changing the source signal. The impact of using the HT signal in this domain is therefore limited, and has not shown relevant differences with respect to the use of the classical approaches of HR or HP.

  16. Genetics Home Reference: Jervell and Lange-Nielsen syndrome

    Science.gov (United States)

    ... Congenital Heart Defects Health Topic: Hearing Disorders and Deafness Genetic and Rare Diseases Information Center (1 link) ... list from the University of Kansas Medical Center Sudden Arrhythmia Death Syndromes (SADS) Foundation: Long QT Syndrome ...

  17. Isolated Cardiac Involvement in Primary Amyloidosis: Presenting as Sick Sinus Syndrome and Heart Failure

    OpenAIRE

    Pattanshetty, Deepak J.; Bhat,Pradeep K; Chamberlain, Wendy A.; Lyons, Matthew R.

    2013-01-01

    Cardiac amyloidosis is an infiltrative cardiomyopathy with a grave prognosis. Its clinical manifestations include restrictive cardiomyopathy, diastolic heart failure, conduction defects, and arrhythmias. Isolated cardiac involvement and significant conduction disturbances are reported very infrequently. We report a rare case of isolated cardiac involvement in primary amyloidosis, in a 76-year-old man who initially presented with sick sinus syndrome that necessitated permanent pacemaker insert...

  18. 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.

  19. Aldosterone does not predict cardiovascular events following acute coronary syndrome in patients initially without heart failure

    OpenAIRE

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

    2017-01-01

    Background: 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.\\ud \\ud Methods and Results: To address this question, we exa...

  20. Genetic Modifiers Predisposing to Congenital Heart Disease in the Sensitized Down Syndrome Population

    Science.gov (United States)

    Li, Huiqing; Cherry, Sheila; Klinedinst, Donna; DeLeon, Valerie; Redig, Jennifer; Reshey, Benjamin; Chin, Michael T.; Sherman, Stephanie L.; Maslen, Cheryl L.; Reeves, Roger H.

    2012-01-01

    Background About half of people with Down syndrome (DS) exhibit some form of congenital heart disease (CHD). However, trisomy for human chromosome 21 (Hsa21) alone is insufficient to cause CHD as half of all people with DS have a normal heart, suggesting that genetic modifiers interact with dosage sensitive gene(s) on Hsa21 to result in CHD. We hypothesize that a threshold exists in both Down syndrome and euploid populations for the number of genetic perturbations that can be tolerated before CHD results. Methods and Results We ascertained a group of individuals with DS and complete atrioventricular septal defect (AVSD) and sequenced two candidate genes for CHD, CRELD1, which is associated with AVSD in people with or without DS, and HEY2, whose mouse ortholog produces septal defects when mutated. Several deleterious variants were identified but the frequency of these potential modifiers was low. We crossed mice with mutant forms of these potential modifiers to the Ts65Dn mouse model of Down syndrome. Crossing loss-of-function alleles of either Creld1 or Hey2 onto the trisomic background caused a significant increase in the frequency of CHD, demonstrating an interaction between the modifiers and trisomic genes. We showed further that although either of these mutant modifiers is benign by itself, they interact to affect heart development when inherited together. Conclusions Using mouse models of Down syndrome and of genes associated with congenital heart disease we demonstrate a biological basis for an interaction that supports a threshold hypothesis for additive effects of genetic modifiers in the sensitized trisomic population. PMID:22523272

  1. Soluble Guanylate Cyclase Stimulators: a Novel Treatment Option for Heart Failure Associated with Cardiorenal Syndromes?

    Science.gov (United States)

    Dubin, Ruth F; Shah, Sanjiv J

    2016-06-01

    Heart failure in the setting of chronic kidney disease (CKD) is an increasingly common scenario and carries a poor prognosis. Clinicians lack tools for primary or secondary heart failure prevention in patients with cardiorenal syndromes. In patients without CKD, angiotensin-converting enzyme inhibitors (ACE-I) or angiotensin receptor blockers (ARB) and statins mitigate cardiovascular risk in large part due to salutary effects on the endothelium. In the setting of CKD, use of these therapies is limited by adverse effects of hyperkalemia in pre-dialysis CKD (ACE-I/ARB), or potential increased risk of stroke in end-stage renal disease (statins). The soluble guanylate cyclase (sGC) stimulators are a novel class of medications that promote endothelial and myocardial function with no known risk of hyperkalemia or stroke. In this review, we discuss the evidence emerging from recent clinical trials of sGC stimulators in pulmonary hypertension and heart failure, the diseased pathways involved in cardiorenal syndromes likely to be restored by sGC stimulators, and several strategies for designing future clinical trials of cardiorenal syndromes that might shorten the timeline for discovery and approval of effective cardiovascular therapies in these high-risk patients.

  2. Down syndrome: Molecular mapping of the congenital heart disease and duodenal stenosis

    Energy Technology Data Exchange (ETDEWEB)

    Korenburg, J.R. (University of California, Los Angeles (United States)); Bradley, C.; Disteche, C.M. (University of Washington, Seattle (United States))

    1992-02-01

    Down syndrome (DS) is a major cause of congenital heart and gut disease and mental retardation. DS individuals also have characteristic facies, hands, and dermatoglyphics, in addition to abnormalities of the immune system, and increased risk of leukemia, and an Alzheimer-like dementia. Although their molecular basis is unknown, recent work on patients with DS and partial duplications of chromosome 21 has suggested small chromosomal regions located in band q22 that are likely to contain the genes for some of these features. The authors now extend these analyses to define molecular markers for the congenital heart disease, the duodenal stenosis, and an 'overlap' region for the facial and some of the skeletal features. They report the clinical, cytogenetic, and molecular analysis of two patients. These studies provide the molecular basis for the construction of a DS phenotypic map and focus the search for genes responsible for the physical features, congenital heart disease, and duodenal stenosis of DS.

  3. Self-induced vomiting in X-linked {alpha}-thalassemia/mental retardation syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kurosawa, Kenji; Akatsuka, Akira; Ochiai, Yukikatsu [Jikei Univ. School of Medicine, Tokyo (Japan)] [and others

    1996-06-14

    This report poses the question of whether the vomiting observed in X-linked {alpha}-thalassemia/mental retardation syndrome could be self-induced. The authors present a case history which seems to support this hypothesis. 5 refs., 1 fig.

  4. 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 chromosom

  5. [Effect of landiolol on heart rate control of atrial fibrillation in a patient with sick sinus syndrome under ventricular pacing].

    Science.gov (United States)

    Satoh, Nobuo; Kobayashi, Koichi; Kitoh, Takeshi; Otagiri, Tetsutaro

    2006-09-01

    A 62-year-old man with an ventricular pacemaker for sick sinus syndrome received right shoulder arthroplasty. During the intraoperative discrepancy between heart rate and pulse rate, continuous infusion of low dose landiolol was useful to control his heart rate of atrial fibrillation.

  6. 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...

  7. [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.

  8. 76. Profile and spectrum of congenital heart defect in pediatric patient with down syndrome

    Directory of Open Access Journals (Sweden)

    G. Alsuhaibani

    2016-07-01

    Full Text Available Down syndrome is one of the most common chromosomal abnormality worldwide. It occurs in 1 of every 800 live births. Almost one-half of patients with Down Syndrome have congenital heart defect. Our objective is to describe the frequency and spectrum of congenital heart defect (CHD among children with Down Syndrome in Saudi Arabia and identify the rate of primary and secondary pulmonary hypertension among pediatric patients with Down syndrome. Cross-sectional, retrospective study of the cardiac anomalies among 331 pediatric patients (0–18 years with Down Syndrome in King Khalid University Hospital (KKUH from August 2001 till October 2014. The demographic data, reason for referral, echocardiography data including systolic function parameters, the presence of CHD, type and details of CHD, presence of pulmonary hypertension (PHTN, history of cardiac surgeries or transcatheter interventions. Among the 331 pediatric patients with Down Syndrome; 230 patients (69.5% have Congenital Heart Defect (CHD. The patients with CHD were significantly younger (median age 3 months with lower weight (P-value <0.05 and height (P-value <0.05 compared to patients with no CHD. The median age at first assessment was 3 months. The most common type of CHDs among DS pediatric patients was atrial septal defect secundum (ASD II which account for 33.5% of all CHD followed by ventricular septal defect (VSD which account for 26.5%, then atrioventricular septal defect (AVSD 21.7% and moderate to large patent ductus arteriosus (PDA 21.7%. There is another (11.7% who have other CHDs. Pulmonary hypertension was present in 32% of patients with CHD vs 4% among patients with no CHD. There is significant relationship between CHD and pulmonary hypertension with odds ratio 11.3 (CI 3.99–31.83, P-value <0.05. 15% of patients underwent either cardiac surgery or transcatheter intervention. Almost two thirds of Down Syndrome patients have CHD with pulmonary hypertension affecting almost

  9. Myocardial infarction and ischemic heart disease in overweight and obesity with and without metabolic syndrome.

    Science.gov (United States)

    Thomsen, Mette; Nordestgaard, Børge G

    2014-01-01

    Overweight and obesity likely cause myocardial infarction (MI) and ischemic heart disease (IHD); however, whether coexisting metabolic syndrome is a necessary condition is unknown. To test the hypothesis that overweight and obesity with and without metabolic syndrome are associated with increased risk of MI and IHD. We examined 71,527 individuals from the Copenhagen General Population Study and categorized them according to body mass index (BMI) as normal weight, overweight, or obese and according to absence or presence of metabolic syndrome. Hazard ratios for incident MI and IHD according to combinations of BMI category and absence or presence of metabolic syndrome. 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, 1.81-3.00) in obese individuals with metabolic syndrome. For IHD, results were similar but attenuated. Normal weight vs overweight vs obesity and presence vs absence of metabolic syndrome did not interact on risk of MI or IHD (P = .90 and P = .44). Among individuals both with and without metabolic syndrome there were increasing cumulative incidences of MI and IHD from normal weight through overweight to obese individuals (log-rank trend P = .006 to P metabolic syndrome was 1.54 (95% CI, 1.32-1.81) across all BMI categories, addition of metabolic syndrome to a multivariable model including BMI and other clinical characteristics improved the Harell C-statistic only slightly for risk of MI (comparison P = .03) but not for IHD (P = .41). These findings suggest that overweight and obesity are risk factors for MI and IHD regardless of the presence or absence of metabolic syndrome and that

  10. The link between iron, metabolic syndrome, and Alzheimer's disease.

    Science.gov (United States)

    Grünblatt, Edna; Bartl, Jasmin; Riederer, Peter

    2011-03-01

    Both Alzheimer's disease (AD), the most common form of dementia, and type-2 diabetes mellitus (T2DM), a disease associated with metabolic syndrome (MetS), affect a great number of the world population and both have increased prevalence with age. Recently, many studies demonstrated that pre-diabetes, MetS, and T2DM are risk factors in the development of AD and have many common mechanisms. The main focus of studies is the insulin resistance outcome found both in MetS as well as in brains of AD subjects. However, oxidative stress (OS)-related mechanisms, which are well known to be involved in AD, including mitochondrial dysfunction, elevated iron concentration, reactive oxygen species (ROS), and stress-related enzyme or proteins (e.g. heme oxygenase-1, transferrin, etc.), have not been elucidated in MetS or T2DM brains although OS and iron are involved in the degeneration of the pancreatic islet β cells. Therefore, this review sets to cover the current literature regarding OS and iron in MetS and T2DM and the similarities to mechanisms in AD both in human subjects as well as in animal models.

  11. Current state of knowledge on Takotsubo syndrome: a Position Statement from the Taskforce on Takotsubo Syndrome of the Heart Failure Association of the European Society of Cardiology.

    Science.gov (United States)

    Lyon, Alexander R; Bossone, Eduardo; Schneider, Birke; Sechtem, Udo; Citro, Rodolfo; Underwood, S Richard; Sheppard, Mary N; Figtree, Gemma A; Parodi, Guido; Akashi, Yoshihiro J; Ruschitzka, Frank; Filippatos, Gerasimos; Mebazaa, Alexandre; Omerovic, Elmir

    2016-01-01

    Takotsubo syndrome is an acute reversible heart failure syndrome that is increasingly recognized in modern cardiology practice. This Position Statement from the European Society of Cardiology Heart Failure Association provides a comprehensive review of the various clinical and pathophysiological facets of Takotsubo syndrome, including nomenclature, definition, and diagnosis, primary and secondary clinical subtypes, anatomical variants, triggers, epidemiology, pathophysiology, clinical presentation, complications, prognosis, clinical investigations, and treatment approaches. Novel structured approaches to diagnosis, risk stratification, and management are presented, with new algorithms to aid decision-making by practising clinicians. These also cover more complex areas (e.g. uncertain diagnosis and delayed presentation) and the management of complex cases with ongoing symptoms after recovery, recurrent episodes, or spontaneous presentation. The unmet needs and future directions for research in this syndrome are also discussed. © 2015 The Authors European Journal of Heart Failure © 2015 European Society of Cardiology.

  12. 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 heart rate and greater increases in very low frequency. Modality-specific relationships were observed between enhanced HRV and visceral fat loss. Clinical Trial Registration URL: http://www.clinicaltrials.gov . Unique identifier: NCT00917917.

  13. Links between Metabolic Syndrome and Cardiovascular Autonomic Dysfunction

    Directory of Open Access Journals (Sweden)

    G. Garruti

    2012-01-01

    Full Text Available Background. Type 2 diabetes (T2D might occur within metabolic syndrome (MbS. One of the complications of T2D is an impaired (imp cardiovascular autonomic function (CAF. Aims. In subjects with T2D and age ≤ 55 years, the prevalence of impCAF and its relationship with BMI, waist, HbA1c values, MbS, hypertension, and family history of T2D and/or hypertension were analysed. Methods. 180 subjects consecutively undergoing a day hospital for T2D were studied. The IDF criteria were used to diagnose MbS. To detect impCAF, 5 tests for the evaluation of CAF were performed with Cardionomic (Meteda, Italy. Univariate and multivariate analyses were performed. Results. The prevalence of impCAF and MbS were 33.9% and 67.8%, respectively. Among diabetics with impCAF, 86.9% had MbS. ImpCAF was significantly associated with MbS, overweight, and HbA1c>7%. Both logistic (P=0.0009 and Poisson (P=0.0113 models showed a positive association between impCAF and MbS. The degree of ImpCAF showed a positive linear correlation with BMI and HbA1c values. Conclusions. The study demonstrates that glycaemic control and overweight influence CAF and that T2D + MbS is more strongly associated with impCAF than isolated T2D. We suggest that MbS not only increases the cardiovascular risk of relatively young subjects with T2D but is also associated with impCAF.

  14. Genetic analysis of Down syndrome-associated heart defects in mice.

    Science.gov (United States)

    Liu, Chunhong; Morishima, Masae; Yu, Tao; Matsui, Sei-Ichi; Zhang, Li; Fu, Dawei; Pao, Annie; Costa, Alberto C; Gardiner, Katheleen J; Cowell, John K; Nowak, Norma J; Nowak, Normal J; Parmacek, Michael S; Liang, Ping; Baldini, Antonio; Yu, Y Eugene

    2011-11-01

    Human trisomy 21, the chromosomal basis of Down syndrome (DS), is the most common genetic cause of heart defects. Regions on human chromosome 21 (Hsa21) are syntenically conserved with three regions located on mouse chromosome 10 (Mmu10), Mmu16 and Mmu17. In this study, we have analyzed the impact of duplications of each syntenic region on cardiovascular development in mice and have found that only the duplication on Mmu16, i.e., Dp(16)1Yey, is associated with heart defects. Furthermore, we generated two novel mouse models carrying a 5.43-Mb duplication and a reciprocal deletion between Tiam1 and Kcnj6 using chromosome engineering, Dp(16Tiam1-Kcnj6)Yey/+ and Df(16Tiam1-Kcnj6)Yey/+, respectively, within the 22.9-Mb syntenic region on Mmu16. We found that Dp(16Tiam1-Kcnj6)Yey/+, but not Dp(16)1Yey/Df(16Tiam1-Kcnj6)Yey, resulted in heart defects, indicating that triplication of the Tiam1-Knj6 region is necessary and sufficient to cause DS-associated heart defects. Our transcriptional analysis of Dp(16Tiam1-Kcnj6)Yey/+ embryos confirmed elevated expression levels for the genes located in the Tiam-Kcnj6 region. Therefore, we established the smallest critical genomic region for DS-associated heart defects to lay the foundation for identifying the causative gene(s) for this phenotype.

  15. Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies.

    Science.gov (United States)

    Wang, Gang; McCain, Megan L; Yang, Luhan; He, Aibin; Pasqualini, Francesco Silvio; Agarwal, Ashutosh; Yuan, Hongyan; Jiang, Dawei; Zhang, Donghui; Zangi, Lior; Geva, Judith; Roberts, Amy E; Ma, Qing; Ding, Jian; Chen, Jinghai; Wang, Da-Zhi; Li, Kai; Wang, Jiwu; Wanders, Ronald J A; Kulik, Wim; Vaz, Frédéric M; Laflamme, Michael A; Murry, Charles E; Chien, Kenneth R; Kelley, Richard I; Church, George M; Parker, Kevin Kit; Pu, William T

    2014-06-01

    Study of monogenic mitochondrial cardiomyopathies may yield insights into mitochondrial roles in cardiac development and disease. Here, we combined patient-derived and genetically engineered induced pluripotent stem cells (iPSCs) with tissue engineering to elucidate the pathophysiology underlying the cardiomyopathy of Barth syndrome (BTHS), a mitochondrial disorder caused by mutation of the gene encoding tafazzin (TAZ). Using BTHS iPSC-derived cardiomyocytes (iPSC-CMs), we defined metabolic, structural and functional abnormalities associated with TAZ mutation. BTHS iPSC-CMs assembled sparse and irregular sarcomeres, and engineered BTHS 'heart-on-chip' tissues contracted weakly. Gene replacement and genome editing demonstrated that TAZ mutation is necessary and sufficient for these phenotypes. Sarcomere assembly and myocardial contraction abnormalities occurred in the context of normal whole-cell ATP levels. Excess levels of reactive oxygen species mechanistically linked TAZ mutation to impaired cardiomyocyte function. Our study provides new insights into the pathogenesis of Barth syndrome, suggests new treatment strategies and advances iPSC-based in vitro modeling of cardiomyopathy.

  16. Acute decompensated heart failure is routinely treated as a cardiopulmonary syndrome.

    Directory of Open Access Journals (Sweden)

    Kumar Dharmarajan

    Full Text Available BACKGROUND: Heart failure as recognized and treated in typical practice may represent a complex condition that defies discrete categorizations. To illuminate this complexity, we examined treatment strategies for patients hospitalized and treated for decompensated heart failure. We focused on the receipt of medications appropriate for other acute conditions associated with shortness of breath including acute asthma, pneumonia, and exacerbated chronic obstructive pulmonary disease. METHODS AND RESULTS: Using Premier Perspective(®, we studied adults hospitalized with a principal discharge diagnosis of heart failure and evidence of acute heart failure treatment from 2009-2010 at 370 US hospitals. We determined treatment with acute respiratory therapies during the initial 2 days of hospitalization and daily during hospital days 3-5. We also calculated adjusted odds of in-hospital death, admission to the intensive care unit, and late intubation (intubation after hospital day 2. Among 164,494 heart failure hospitalizations, 53% received acute respiratory therapies during the first 2 hospital days: 37% received short-acting inhaled bronchodilators, 33% received antibiotics, and 10% received high-dose corticosteroids. Of these 87,319 hospitalizations, over 60% continued receiving respiratory therapies after hospital day 2. Respiratory treatment was more frequent among the 60,690 hospitalizations with chronic lung disease. Treatment with acute respiratory therapy during the first 2 hospital days was associated with higher adjusted odds of all adverse outcomes. CONCLUSIONS: Acute respiratory therapy is administered to more than half of patients hospitalized with and treated for decompensated heart failure. Heart failure is therefore regularly treated as a broader cardiopulmonary syndrome rather than as a singular cardiac condition.

  17. 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.

  18. Adipokines in reproductive function: a link between obesity and polycystic ovary syndrome.

    Science.gov (United States)

    Chen, Xinwang; Jia, Xiao; Qiao, Jie; Guan, Youfei; Kang, Jihong

    2013-04-01

    Polycystic ovary syndrome (PCOS) is the most common endocrinopathy associated with infertility and metabolic disorder in women of reproductive age. Dysfunction of adipose tissue has been implicated in the pathophysiology of PCOS. Increasing evidence shows that the dysregulated expression of adipokines, the secreted products of adipose tissue, plays an important role in the pathology of PCOS. Here, we review the role of several identified adipokines that may act as a link between obesity and PCOS. PCOS also reciprocally influences the profile of adipokines. Insight into the underlying mechanisms will help better understand the pathology of PCOS and identify new therapeutic targets of this syndrome.

  19. 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.

  20. A novel approach in cross-linking of bioprosthetic heart valves

    NARCIS (Netherlands)

    Everaerts, Fransiscus Joannes Leonardus

    2007-01-01

    Due to some form of heart valve disease, approximately 250000 patients worldwide undergo surgery to receive a new heart-valve each year. In about 70% of the cases a mechanical heart valve is used despite the fact that permanent anticoagulant therapy for the patient is required. The remaining 30% of

  1. A novel approach in cross-linking of bioprosthetic heart valves

    NARCIS (Netherlands)

    Everaerts, Fransiscus Joannes Leonardus

    2007-01-01

    Due to some form of heart valve disease, approximately 250000 patients worldwide undergo surgery to receive a new heart-valve each year. In about 70% of the cases a mechanical heart valve is used despite the fact that permanent anticoagulant therapy for the patient is required. The remaining 30% of

  2. Sertraline exposure leads to small left heart syndrome in adult mice

    OpenAIRE

    Haskell, Sarah E.; Hermann, Gregory M; Benjamin E Reinking; Volk, Kenneth A.; Peotta, Veronica A.; Zhu, Vivian; Roghair, Robert D

    2012-01-01

    Background Sertraline, a selective serotonin reuptake inhibitor (SSRI), is the most commonly prescribed therapy for maternal depression. Epidemiologic studies have linked SSRI exposure with decreased fetal growth, altered autonomic regulation, and cardiac malformations. We hypothesized SSRI exposure decreases left ventricular volumes and increases adult sympathetic nervous system activation, resulting in increased adult heart rates. Methods C57BL/6 mice received saline or sertraline (5 or 15 ...

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

    Science.gov (United States)

    Lu, Dai-Yin; Yang, Albert C; Cheng, Hao-Min; Lu, Tse-Min; Yu, Wen-Chung; Chen, Chen-Huan; Sung, Shih-Hsien

    2016-01-01

    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.

  4. Congenital heart disease and cardiac procedural outcomes in patients with trisomy 21 and Turner syndrome.

    Science.gov (United States)

    Morales-Demori, Raysa

    2017-07-24

    Congenital heart disease (CHD) is present in approximately 50% of patients with trisomy 21 (T21) and Turner syndrome (TS). According to the American Academy of Pediatrics, every patient with these genetic disorders should have a postnatal echocardiogram. T21 is usually associated with atrioventricular (30%-60%), atrial (16%-21%), or ventricular septal defects (14%-27%). TS is usually associated with left-sided heart disease. However, the spectrum of CHD in these genetic disorders is wider than those mentioned lesions. More cardiac surgical procedures are offered to these patients and that has influenced positively their life expectancy for some CHD conditions. Single ventricular anatomy is associated with high mortality in these genetic disorders (49% in T21 and 83%-91% in TS). The goal of this article is to describe the spectrum of CHD, screening guidelines, and cardiac surgical outcomes in patients with T21 or TS with CHD. © 2017 Wiley Periodicals, Inc.

  5. A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome.

    Directory of Open Access Journals (Sweden)

    Barshagul T Baikara

    Full Text Available Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy. Approximately 80% of Alport syndrome cases are caused by X-linked mutations in the COL4A5 gene encoding type IV collagen. The objective of this study was to define the SNP profiles for COL4A5 in patients with hereditary nephritis and hematuria. For this, we examined four subjects from one Kazakh family clinically affected with X-linked Alport syndrome due to COL4A5 gene mutations. All 51 exons of the COL4A5 gene were screened by linkage analysis and direct DNA sequencing, resulting in the identification of a novel mutation (G641E in exon 25. The mutation was found only in two affected family individuals but was not present in healthy family members or 200 unrelated healthy controls. This result demonstrates that this novel mutation is pathogenic and has meaningful implications for the diagnosis of patients with Alport syndrome.

  6. [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.

  7. 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.

  8. Neomycin and pentagalloyl glucose enhanced cross-linking for elastin and glycosaminoglycans preservation in bioprosthetic heart valves.

    Science.gov (United States)

    Tripi, Daniel R; Vyavahare, Naren R

    2014-01-01

    Glutaraldehyde cross-linked bioprosthetic heart valves fail within 12-15 years of implantation due to limited durability. Glutaraldehyde does not adequately stabilize extracellular matrix components such as glycosaminoglycans and elastin, and loss of these components could be a major cause of degeneration of valve after implantation. We have shown earlier that neomycin-based cross-linking stabilizes glycosaminoglycans in the tissue but fails to stabilize elastin component. Here, we report a new treatment where neomycin and pentagalloyl glucose (PGG) were incorporated into glutaraldehyde cross-linking neomycin-PGG-Glutaraldehyde (NPG) to stabilize both glycosaminoglycans and elastin in porcine aortic valves. In vitro studies demonstrated a marked increase in extracellular matrix stability against enzymatic degradation after cross-linking and 10 month storage in NPG group when compared to glutaraldehyde controls. Tensile properties showed increased lower elastic modulus in both radial and circumferential directions in NPG group as compared to glutaraldehyde, probably due to increased elastin stabilization with no changes in upper elastic modulus and extensibility. The enhanced extracellular matrix stability was further maintained in NPG-treated tissues after rat subdermal implantation for three weeks. NPG group also showed reduced calcification when compared to glutaraldehyde controls. We conclude that NPG cross-linking would be an excellent alternative to glutaraldehyde cross-linking of bioprosthetic heart valves to improve its durability.

  9. Advanced glycation end products: A link between metabolic and endothelial dysfunction in polycystic ovary syndrome?

    Science.gov (United States)

    Pertynska-Marczewska, Magdalena; Diamanti-Kandarakis, Evanthia; Zhang, John; Merhi, Zaher

    2015-11-01

    Polycystic ovary syndrome (PCOS), a heterogeneous syndrome of reproductive and metabolic alterations, is associated with increased long-term risk of cardiovascular complications. This phenomenon has been linked to an increase in oxidative stress and inflammatory markers. Advanced glycation end products (AGEs) are pro-inflammatory molecules that trigger a state of intracellular oxidative stress and inflammation after binding to their cell membrane receptors RAGE. The activation of the AGE-RAGE axis has been well known to play a role in atherosclerosis in both men and women. Women with PCOS have systemic chronic inflammatory condition even at the ovarian level as represented by elevated levels of serum/ovarian AGEs and increased expression of the pro-inflammatory RAGE in ovarian tissue. Data also showed the presence of sRAGE in the follicular fluid and its potential protective role against the harmful effect of AGEs on ovarian function. Thus, whether AGE-RAGE axis constitutes a link between metabolic and endothelial dysfunction in women with PCOS is addressed in this review. Additionally, we discuss the role of hormonal changes observed in PCOS and how they are linked with the AGE-RAGE axis in order to better understand the nature of this complex syndrome whose consequences extend well beyond reproduction.

  10. Cerebral Blood Flow, Heart Rate, and Blood Pressure Patterns during the Tilt Test in Common Orthostatic Syndromes

    Directory of Open Access Journals (Sweden)

    Peter Novak

    2016-01-01

    Full Text Available Objective. The head-up tilt test is widely used for evaluation of orthostatic intolerance. Although orthostatic symptoms usually reflect cerebral hypoperfusion, the cerebral blood flow velocity (CBFv profile in orthostatic syndromes is not well described. This study evaluated CBFv and cardiovascular patterns associated with the tilt test in common orthostatic syndromes. Methods. This retrospective study analyzed the tilt test of patients with history of orthostatic intolerance. The following signals were recorded: ECG, blood pressure, CBFv using transcranial Doppler, respiratory signals, and end tidal CO2. Results. Data from 744 patients were analyzed. Characteristic pattern associated with a particular orthostatic syndrome can be grouped into abnormalities predominantly affecting blood pressure (orthostatic hypotension, orthostatic hypertension syndrome, vasomotor oscillations, and neurally mediated syncope—cardioinhibitory, vasodepressor, and mixed, cerebral blood flow (orthostatic hypoperfusion syndrome, primary cerebral autoregulatory failure, and heart rate (tachycardia syndromes: postural tachycardia syndrome, paroxysmal sinus tachycardia, and inappropriate sinus tachycardia. Psychogenic pseudosyncope is associated with stable CBFv. Conclusions. The tilt test is useful add-on in diagnosis of several orthostatic syndromes. However diagnostic criteria for several syndromes had to be modified to allow unambiguous pattern classification. CBFv monitoring in addition to blood pressure and heart rate may increase diagnostic yield of the tilt test.

  11. Cerebral Blood Flow, Heart Rate, and Blood Pressure Patterns during the Tilt Test in Common Orthostatic Syndromes

    Science.gov (United States)

    2016-01-01

    Objective. The head-up tilt test is widely used for evaluation of orthostatic intolerance. Although orthostatic symptoms usually reflect cerebral hypoperfusion, the cerebral blood flow velocity (CBFv) profile in orthostatic syndromes is not well described. This study evaluated CBFv and cardiovascular patterns associated with the tilt test in common orthostatic syndromes. Methods. This retrospective study analyzed the tilt test of patients with history of orthostatic intolerance. The following signals were recorded: ECG, blood pressure, CBFv using transcranial Doppler, respiratory signals, and end tidal CO2. Results. Data from 744 patients were analyzed. Characteristic pattern associated with a particular orthostatic syndrome can be grouped into abnormalities predominantly affecting blood pressure (orthostatic hypotension, orthostatic hypertension syndrome, vasomotor oscillations, and neurally mediated syncope—cardioinhibitory, vasodepressor, and mixed), cerebral blood flow (orthostatic hypoperfusion syndrome, primary cerebral autoregulatory failure), and heart rate (tachycardia syndromes: postural tachycardia syndrome, paroxysmal sinus tachycardia, and inappropriate sinus tachycardia). Psychogenic pseudosyncope is associated with stable CBFv. Conclusions. The tilt test is useful add-on in diagnosis of several orthostatic syndromes. However diagnostic criteria for several syndromes had to be modified to allow unambiguous pattern classification. CBFv monitoring in addition to blood pressure and heart rate may increase diagnostic yield of the tilt test. PMID:27525257

  12. 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.

  13. 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

  14. Neutrophil proteolytic activation cascades: a possible mechanistic link between chronic periodontitis and coronary heart disease.

    Science.gov (United States)

    Alfakry, Hatem; Malle, Ernst; Koyani, Chintan N; Pussinen, Pirkko J; Sorsa, Timo

    2016-01-01

    Cardiovascular diseases are chronic inflammatory diseases that affect a large segment of society. Coronary heart disease (CHD), the most common cardiovascular disease, progresses over several years and affects millions of people worldwide. Chronic infections may contribute to the systemic inflammation and enhance the risk for CHD. Periodontitis is one of the most common chronic infections that affects up to 50% of the adult population. Under inflammatory conditions the activation of endogenous degradation pathways mediated by immune responses leads to the release of destructive cellular molecules from both resident and immigrant cells. Matrix metalloproteinases (MMPs) and their regulators can activate each other and play an important role in immune response via degrading extracellular matrix components and modulating cytokines and chemokines. The action of MMPs is required for immigrant cell recruitment at the site of inflammation. Stimulated neutrophils represent the major pathogen-fighting immune cells that upregulate expression of several proteinases and oxidative enzymes, which can degrade extracellular matrix components (e.g. MMP-8, MMP-9 and neutrophil elastase). The activity of MMPs is regulated by endogenous inhibitors and/or candidate MMPs (e.g. MMP-7). The balance between MMPs and their inhibitors is thought to mirror the proteolytic burden. Thus, neutrophil-derived biomarkers, including myeloperoxidase, may activate proteolytic destructive cascades that are involved in subsequent immune-pathological events associated with both periodontitis and CHD. Here, we review the existing studies on the contribution of MMPs and their regulators to the infection-related pathology. Also, we discuss the possible proteolytic involvement and role of neutrophil-derived enzymes as an etiological link between chronic periodontitis and CHD.

  15. [The relation between the low T3 syndrome in the clinical course of myocardial infarction and heart failure].

    Science.gov (United States)

    Frączek, Magdalena Maria; Gackowski, Andrzej; Przybylik-Mazurek, Elwira; Nessler, Jadwiga

    2016-06-01

    It has been proven that either excess or deficiency of thyroid hormones has harmful influence on the cardiovascular system function. On the other hand, severe systemic conditions like myocardial infarction or severe heart failure may affect thyroid hormones secretion and their peripheral conversion, leading to low T3 syndrome. Amongst many mechanisms causing T4 to T3 conversion disturbances, important role plays decreased activity of D1 deiodinase and increased activity of D3 deiodinase. The animal research confirmed that thyroid hormones influence cardiomiocytes phenotype and morphology. They inhibit inflammation, apoptosis and cardiac remodelling after myocardial infarction. It was also proven that free triiodothyronine similarly to brain natriuretic peptide predict long-term prognosis in chronic and acute heart failure patients. Potential influence of low T3 syndrome on the course of myocardial infarction and heart failure may have significant impact on the future research on individualization of myocardial infarction and heart failure treatment depending on patient's thyroid status.

  16. Thrombocytosis in asplenia syndrome with congenital heart disease: a previously unrecognized risk factor for thromboembolism.

    Science.gov (United States)

    Yamamura, Kenichiro; Joo, Kunitaka; Ohga, Shouichi; Nagata, Hazumu; Ikeda, Kazuyuki; Muneuchi, Jun; Watanabe, Mamie; Hara, Toshiro

    2013-09-01

    Thrombocytosis and thromboembolic complications occur after splenectomy. However, there is no previous report investigating the presence of thrombocytosis and its association with thromboembolic events in patients having asplenia syndrome with congenital heart disease. Enrolled were 161 consecutive patients with functionally single ventricle who underwent cardiac catheterization between 1997 and 2010. They were divided into two groups: patients having asplenia (Group A, n=46) and patients having no asplenia (Group B, n=115). Aspirin therapy was employed in all patients after surgical interventions except for pulmonary artery banding. We retrospectively reviewed the platelet counts at each seven stage of cardiac catheterization (for pre- and postoperative evaluation of the first palliation, Glenn operation, and Fontan operation, and for late evaluation after Fontan operation), incidence of thromboembolic events, and other possible risk factors for thromboembolism. The median platelet counts in Group A were consistently higher than those in Group B at any of the seven stages of cardiac catheterizations (pthrombocytosis is present in patients with asplenia syndrome. It may greatly contribute to the development of thromboembolism during the management of congenital heart disease than expected. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  17. A "Trapped Heart" in an Octopus Pot: Takotsubo Cardiomyopathy; Review of a Rare Clinical Syndrome Following Solid-Organ Transplant.

    Science.gov (United States)

    Vailas, Michail G; Moris, Demetrios; Papalampros, Alexandros; Sotiropoulou, Maria; Schizas, Demetrios; Davakis, Spiridon; Vernadakis, Spiridon

    2017-10-01

    Takotsubo cardiomyopathy, also known as "broken heart syndrome," "apical ballooning syndrome," and "stress-induced cardiomyopathy," was first des cribed in Japanese patients in 1990 by Sato and colleagues. Takotsubo cardiomyopathy is an increasingly recognized syndrome characterized by transient and reversible systolic dysfunction of the apical and middle segments of the left ventricle. This syndrome resembles acute myocardial infarction in the absence of evident coronary artery occlusion. Although the precise pathophysiology of takotsubo cardiomyopathy is still unknown, it seems that it is associated with excessive sympathetic stimulation, microvascular dysfunction, coronary artery vasospasm, and abnormal myocardial tissue metabolism. Herein, we sought to recognize and summarize the available literature data on Takotsubo cardiomyopathy regarding solid-organ transplant, in an attempt to provide the demographic and morphologic functional characteristics of patients with Takotsubo cardiomyopathy and related clinical implications. Transplant surgeons should maintain a high index of clinical suspicion and never underestimate takotsubo cardiomyopathy as a potential cause of heart failure following solid-organ transplant.

  18. Prevalence and profile of congenital heart disease and pulmonary hypertension in Down syndrome in a pediatric cardiology service

    Directory of Open Access Journals (Sweden)

    Felipe Alves Mourato

    2014-06-01

    Full Text Available OBJECTIVE:To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis.METHODS:Cross-sectional study with retrospective data collection of 138 patients with Down syndrome from a total of 17,873 records. Descriptive analysis of the data was performed, using Epi-Info version 7.RESULTS: Among the 138 patients with Down syndrome, females prevailed (56.1% and 112 (81.2% were diagnosed with congenital heart disease. The most common lesion was ostium secundum atrial septal defect, present in 51.8%, followed by atrioventricular septal defect, in 46.4%. Ventricular septal defects were present in 27.7%, while tetralogy of Fallot represented 6.3% of the cases. Other cardiac malformations corresponded to 12.5%. Pulmonary hypertension was associated with 37.5% of the heart diseases. Only 35.5% of the patients were referred before six months of age.CONCLUSIONS: The low percentage of referral until six months of age highlights the need for a better tracking of patients with Down syndrome in the context of congenital heart disease, due to the high frequency and progression of pulmonary hypertension.

  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. Correlation Study of PtfV1 with Heart-Qi Deficiency Syndrome in Patients with Hypertensive Left Ventricular Hypertrophy

    Institute of Scientific and Technical Information of China (English)

    杨传华; 陆峰

    2002-01-01

    @@ It is generally believed that the change of p-wave terminal force in lead V1 (PtfV1) is associated with the inner diameter of left atrium, left ventricular compliance,and ventricular diastolic function. The increase of negative value of PtfV1 in essential hypertensive (EH) patients with left ventricular hypertrophy (LVH) indicates the cardiac function may be damaged. In order to explore the relationship between Heart-Qi Deficiency Syndrome (HQDS) of TCM and PtfV1 level in hypertensive LVH patients, correlation analysis of scores of Heart-Qi Deficiency Syndrome and negative value of PtfV1 was made by the authors.

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

    OpenAIRE

    Kang, Seol-Jung; Kim, DE; Ko, Kwang-Jun

    2016-01-01

    [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 he...

  2. 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

  3. 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.

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

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    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. Hypereosinophilic syndrome, Churg-Strauss syndrome and parasitic diseases: possible links between eosinophilia and thrombosis.

    Science.gov (United States)

    Maino, Alberto; Rossio, Raffaella; Cugno, Massimo; Marzano, Angelo V; Tedeschi, Alberto

    2012-09-01

    Throughout the past decade, a possible role of eosinophils in blood coagulation and thrombosis has been suggested. We conducted a Pubmed (MEDLINE) search of case and series referring to any kind of thrombotic events described in three conditions characterised by persistent blood eosinophilia, i.e. the hypereosinophilic syndrome (HES), the Churg Strauss syndrome (CSS), and parasitic infestations from 1966 to date. One hundred and ninety-two articles were found regarding thrombotic events in HES and CSS, and 209 cases of thrombosis were extracted. One hundred and seventy- seven articles dealing with parasitic diseases and thrombosis were found, but only 15 manuscripts reporting thrombosis of unknown origin in 22 patients were selected. In HES, arterial thromboses were more frequent than in CSS (p=0.006), representing almost half of the cases (45%), while venous and mixed artero-venous thrombosis were respectively 28% and 27%. In contrast, in CSS there was a predominance of venous thrombosis (56%, p=0.006), with arterial thrombosis representing 38% of total thrombotic events, and mixed thrombosis being the least frequent (4%). The higher incidence of arterial thrombosis in HES patients can be explained by the common cardiac involvement (64% of patients). In the 22 patients with parasitoses and thrombosis, 15 had arterial thrombosis (68%) and 7 had venous thrombosis (32 %). Literature analysis shows that there are numerous reports of thrombotic events in patients with eosinophil-related disorders supporting a role for eosinophils in thrombosis. This observation raises the problem of prevention and treatment of thromboembolism particularly in HES and CSS patients.

  6. Chromosome 21-Encoded microRNAs (mRNAs): Impact on Down's Syndrome and Trisomy-21 Linked Disease.

    Science.gov (United States)

    Alexandrov, P N; Percy, M E; Lukiw, Walter J

    2017-07-07

    Down's syndrome (DS; also known as trisomy 21; T21) is caused by a triplication of all or part of human chromosome 21 (chr21). DS is the most common genetic cause of intellectual disability attributable to a naturally-occurring imbalance in gene dosage. DS incurs huge medical, healthcare, and socioeconomic costs, and there are as yet no effective treatments for this incapacitating human neurogenetic disorder. There is a remarkably wide variability in the 'phenotypic spectrum' associated with DS; the progression of symptoms and the age of DS onset fluctuate, and there is further variability in the biophysical nature of the chr21 duplication. Besides the cognitive disruptions and dementia in DS patients other serious health problems such as atherosclerosis, altered lipogenesis, Alzheimer's disease, amyotrophic lateral sclerosis (Lou Gehrig's disease), autoimmune disease, various cancers including lymphoma, leukemia, glioma and glioblastoma, status epilepticus, congenital heart disease, hypotonia, manic depression, prostate cancer, Usher syndrome, motor disorders, Hirschsprung disease, and various physical anomalies such as early aging occur at elevated frequencies, and all are part of the DS 'phenotypic spectrum.' This communication will review the genetic link between these fore-mentioned diseases and a small group of just five stress-associated microRNAs (miRNAs)-that include let-7c, miRNA-99a, miRNA-125b, miRNA-155, and miRNA-802-encoded and clustered on the long arm of human chr21 and spanning the chr21q21.1-chr21q21.3 region.

  7. 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.

  8. Platelet abnormalities in adults with severe pulmonary arterial hypertension related to congenital heart defects (Eisenmenger syndrome).

    Science.gov (United States)

    Remková, Anna; Šimková, Iveta; Valkovičová, Tatiana; Kaldarárová, Monika

    2016-12-01

    Patients with severe pulmonary arterial hypertension suffer from life-threatening thrombotic and bleeding complications. The aim of this study was to compare selected platelet, endothelial, and coagulation parameters in healthy volunteers and patients with severe pulmonary arterial hypertension because of congenital heart defects. The study included healthy volunteers (n = 50) and patients with cyanotic congenital heart defects classified as Eisenmenger syndrome (n = 41). We investigated platelet count, mean platelet volume, and platelet aggregation - spontaneous and induced by various concentrations of five agonists. Von Willebrand factor (vWF), fibrinogen, factor VIII and XII, plasminogen activator inhibitor, antithrombin, D-dimer, and antiphospholipid antibodies were also investigated. We found a decreased platelet count [190 (147-225) vs. 248 (205-295) 10 l, P < 0.0001], higher mean platelet volume [10.9 (10.1-12.0) vs. 10.2 (9.4-10.4) fl, P < 0.0001], and significantly decreased platelet aggregation (induced by five agonists, in various concentrations) in patients with Eisenmenger syndrome compared with controls. These changes were accompanied by an increase of plasma vWF antigen [141.6 (108.9-179.1) vs. 117.4 (9.2-140.7) IU/dl, P = 0.022] and serum anti-β2-glycoprotein [2.07 (0.71-3.41) vs. 0.47 (0.18-0.99) U/ml, P < 0.0001]. Eisenmenger syndrome is accompanied by platelet abnormalities. Thrombocytopenia with increased platelet size is probably due to a higher platelet turnover associated with platelet activation. Impaired platelet aggregation can reflect specific platelet behaviour in patients with Eisenmenger syndrome. These changes can be related both to bleeding and to thrombotic events. A higher vWF antigen may be a consequence of endothelial damage in Eisenmenger syndrome, but the cause for an increase of anti-β2-glycoprotein is unknown.

  9. 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.

  10. Diabetic Dead-in-Bed Syndrome: A Possible Link to a Cardiac Ion Channelopathy

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    Jonathan R. Skinner

    2014-01-01

    Full Text Available Sudden unexpected nocturnal death among patients with diabetes occurs approximately ten times more commonly than in the general population. Malignant ventricular arrhythmia due to Brugada syndrome has been postulated as a cause, since a glucose-insulin bolus can unmask the Brugada electrocardiographic signature in genetically predisposed individuals. In this report we present a 16-year-old male with insulin-dependent diabetes who died suddenly at night. His diabetes had been well controlled, without significant hypoglycaemia. At autopsy, he had a full stomach and a glucose level of 7 mmol/L in vitreous humor, excluding hypoglycaemia. Genetic analysis of autopsy DNA revealed a missense mutation, c.370A>G (p.Ile124Val, in the GPD1L gene. A parent carried the same mutation and has QT prolongation. Mutations in this gene have been linked to Brugada syndrome and sudden infant death. The patient may have died from a ventricular arrhythmia, secondary to occult Brugada syndrome, triggered by a full stomach and insulin. The data suggest that molecular autopsies are warranted to investigate other cases of the diabetic dead-in-bed syndrome.

  11. A mouse model to study the link between hypoxia, long QT interval and sudden infant death syndrome.

    Science.gov (United States)

    Neary, Marianne T; Mohun, Timothy J; Breckenridge, Ross A

    2013-03-01

    The pathology of sudden infant death syndrome (SIDS) is poorly understood. Many risk factors, including hypoxia, have been identified. Prolongation of the ECG QTc interval is associated with elevated risk of SIDS but its aetiology in most cases remains unknown. We have characterised ECG changes in the newborn mouse in the hours and days following birth. There was a steady increase in heart rate alongside significant decreases in QTc interval, QRS duration and QTc dispersion over the first 10 postnatal days. Birth into hypoxia (10% FiO2) prevented electrocardiac maturation, downregulated cardiac ion-channel expression and led to neonatal death. We found that risk of death decreased with increasing age of exposure to hypoxia. Genetic elevation of cardiac hypoxia-signalling after birth in αMHC-Cre::VHL(fl/fl) mice also prevented electrocardiographic maturation, leading to arrhythmia and death before weaning. Immunohistochemistry and western blotting revealed internalisation and dephosphorylation of Connexin43. We conclude that increased ambient oxygen concentration after birth drives maturation of the cardiac electrical conduction system, failure of which leads to aberrant ion channel and Connexin43 expression and predisposes to arrhythmia and sudden death. This is consistent with known risk factors of SIDS and provides a link between neonatal hypoxia, ECG abnormalities and sudden death.

  12. 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.

    2009-01-01

    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. PMID:19414485

  13. [Quality of life and iron metabolism in patients with anemic syndrome developed on the background of chronic heart failure].

    Science.gov (United States)

    Ryndina, N; Kravchun, P; Tytova, G

    2013-03-01

    The presence of concomitant anemia in many aspects defines an unfavorable course of chronic heart failure, affects patient's quality of life. Among anemic patients with chronic heart failure prevailed persons with a relative deficiency of iron. Aim of the study - to evaluate the quality of life for patients with anemia on the background of chronic heart failure, using a questionnaire FACT-An, and to analyze the existence and nature of the relations between quality of life and indicators of the iron metabolism, based on the study of transferrin saturation and ferritin. Ferritin concentration was determined by ELISA. Transferrin saturation were determined by the formula. Questionnaire FACT-An was used for assess the quality of life in anemic patients with chronic heart failure. The presence of functional iron deficiency in patients with chronic heart failure and anemic syndrome is accompanied by deterioration of parameters of quality of life mainly due to the scale of physical activity and social functioning.

  14. The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.

    Science.gov (United States)

    d'Hennezel, Eva; Bin Dhuban, Khalid; Torgerson, Troy; Piccirillo, Ciriaco A; Piccirillo, Ciriaco

    2012-05-01

    Immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome is a rare disorder in humans caused by germ-line mutations in the FOXP3 gene, a master transcriptional regulator for the development of CD4 regulatory T (Treg) cells. This T cell subset has global inhibitory functions that maintain immune homeostasis and mediate self-tolerance. Treg developmental deficiency or dysfunction is a hallmark of IPEX. It leads to severe, multi-organ, autoimmune phenomena including enteropathy, chronic dermatitis, endocrinopathy and other organ-specific diseases such as anaemia, thrombocytopenia, hepatitis and nephritis. In this review, the genetic, immunological and clinical characteristics of IPEX syndrome are described, and the impact of heritable mutations on the function of Treg cells highlighted.

  15. Sex differences in a shoaling-boldness behavioral syndrome, but no link with aggression.

    Science.gov (United States)

    Way, Gregory P; Kiesel, Alexis L; Ruhl, Nathan; Snekser, Jennifer L; McRobert, Scott P

    2015-04-01

    A behavioral syndrome is observed in a population when specific behaviors overlap at the individual level in different contexts. Here, we explore boldness and aggression personality spectra, the repeatability of shoaling, and possible associated correlations between the behaviors in a population of lab-reared zebrafish (Danio rerio). Our findings describe a sex-specific boldness-shoaling behavioral syndrome, as a link between boldness and shoaling behaviors is detected. The results indicate that bold males are likely to have a stronger shoaling propensity than shy males for unfamiliar conspecifics. Conversely, bold females are more likely to shoal than shy females, but only when presented with heterospecific individuals. Additionally, aggression does not correlate with boldness or shoaling propensity for either sex. A positive relationship between boldness and shoaling that differs by sex is contrary to most of the present literature, but could help to explain population dynamics and may also have evolutionary implications.

  16. A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation.

    Science.gov (United States)

    Mutesa, Leon; Jamar, Mauricette; Hellin, Anne Cecile; Pierquin, Genevieve; Bours, Vincent

    2012-09-01

    While the XYY and XXYY syndromes have been several time described in patients, the combination of both syndromes in an individual is a rare event and may result in a severe phenotype. In the present observation, a boy with congenital scoliosis due to segmented thoracic hemivertebra associated with radioulnar synostosis and congenital heart disease is described. Chromosome G-banding and FISH analysis demonstrated a de novo mosaic karyotype 48, XXYY/47, XYY in this patient. To the best of our knowledge, this is the first report of a combination of XYY and XXYY syndromes.

  17. A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation

    Directory of Open Access Journals (Sweden)

    Leon Mutesa

    2012-01-01

    Full Text Available While the XYY and XXYY syndromes have been several time described in patients, the combination of both syndromes in an individual is a rare event and may result in a severe phenotype. In the present observation, a boy with congenital scoliosis due to segmented thoracic hemivertebra associated with radioulnar synostosis and congenital heart disease is described. Chromosome G-banding and FISH analysis demonstrated a de novo mosaic karyotype 48, XXYY/47, XYY in this patient. To the best of our knowledge, this is the first report of a combination of XYY and XXYY syndromes.

  18. Genetics Home Reference: Mowat-Wilson syndrome

    Science.gov (United States)

    ... Diseases Health Topic: Congenital Heart Defects Health Topic: Developmental Disabilities Genetic and Rare Diseases Information Center (1 link) Mowat-Wilson syndrome Additional NIH Resources (2 ... Intellectual and Developmental Disabilities National Institute of Diabetes and Digestive and ...

  19. DNA Isn't Destiny: Healthy Living Can Overcome Genes Linked to Heart Disease

    Science.gov (United States)

    ... page: https://medlineplus.gov/news/fullstory_161999.html DNA Isn't Destiny: Healthy Living Can Overcome Genes ... unhealthy lifestyle choices. "For heart attack at least, DNA is not destiny," Kathiresan said. "You have control ...

  20. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.

    Science.gov (United States)

    Gilfillan, Gregor D; Selmer, Kaja K; Roxrud, Ingrid; Smith, Raffaella; Kyllerman, Mårten; Eiklid, Kristin; Kroken, Mette; Mattingsdal, Morten; Egeland, Thore; Stenmark, Harald; Sjøholm, Hans; Server, Andres; Samuelsson, Lena; Christianson, Arnold; Tarpey, Patrick; Whibley, Annabel; Stratton, Michael R; Futreal, P Andrew; Teague, Jon; Edkins, Sarah; Gecz, Jozef; Turner, Gillian; Raymond, F Lucy; Schwartz, Charles; Stevenson, Roger E; Undlien, Dag E; Strømme, Petter

    2008-04-01

    Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na(+)/H(+) exchanger NHE6. Subsequently, other mutations were found in a male with mental retardation (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and ataxia, including the family designated as having Christianson syndrome. Therefore, mutations in SLC9A6 cause X-linked mental retardation. Additionally, males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations.

  1. Pulse pressure and heart rate in patients with metabolic syndrome across Europe: insights from the GOOD survey.

    Science.gov (United States)

    Perlini, S; Naditch-Brule, L; Farsang, C; Zidek, W; Kjeldsen, S E

    2013-07-01

    The Global Cardiometabolic Risk Profile in Patients with hypertension disease (GOOD) survey investigated the global cardiometabolic risk profile in 3464 adult outpatients with hypertension across 289 sites in 12 European countries. The pulse pressure and heart rate profile of the survey population was evaluated according to the presence or absence of metabolic syndrome and/or type 2 diabetes mellitus. History and treatment of hypertension were not counted as criteria for metabolic syndrome as they applied to all patients. Out of the 3370 recruited patients, 1033 had metabolic syndrome and 1177 had neither metabolic syndrome nor diabetes. When compared with patients with no metabolic syndrome or diabetes, patients with metabolic syndrome had higher pulse pressure (59±14 vs. 55±14 mm Hg) and heart rate (75.2±11.0 vs. 72.5±10.0 beats per min) (Ppulse pressure, which may at least in part reflect increased arterial stiffness and increased sympathetic tone. This may contribute, to some extent, to explaining the increased cardiovascular risk attributed to the presence of metabolic syndrome.

  2. Trend in the prevalence of the metabolic syndrome and its impact on cardiovascular disease incidence: the San Antonio Heart Study.

    Science.gov (United States)

    Lorenzo, Carlos; Williams, Ken; Hunt, Kelly J; Haffner, Steven M

    2006-03-01

    With the current obesity epidemic, one would expect a prevalence increase in the metabolic syndrome. Therefore, in the San Antonio Heart Study, a population-based study with worsening obesity, we examined the metabolic syndrome and its effect on incident cardiovascular disease (CVD). We enrolled 5,158 subjects in two cohorts: 1979-1982 and 1984-1988. We reexamined 3,682 (71.4%) subjects in 1987-1990 (cohort 1) and 1991-1996 (cohort 2) and assessed a 7.5-year incidence of CVD in 4,635 (90.0%) participants. We used the metabolic syndrome definition of the National Cholesterol Education Program-Adult Treatment Panel III. At baseline, the metabolic syndrome was less prevalent in cohort 1 than in cohort 2: in men, 20.4 vs. 29.3% (P women, 16.3 vs. 26.3% (P women of both Mexican-American and non-Hispanic white ethnic groups between 1979-1982 and 1991-1996 (P for trend diabetes, total cholesterol, smoking, and family history of heart attack. Further adjustment for the metabolic syndrome reduced this difference (1.26 [0.93-1.71]) because the metabolic syndrome predicted incident CVD (1.58 [1.14-2.18]). In San Antonio, Texas, an increase in the prevalence of the metabolic syndrome between 1979-1982 and 1984-1988 contributes to explain a higher CVD incidence.

  3. Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.

    Science.gov (United States)

    Li, Bijun; Zhou, Tianhong; Zou, Yi

    2016-01-01

    Opitz syndrome (OS) is a genetic disorder that affects mainly the development of midline structures, including the craniofacial region, embryonic heart, and urogenital system. The manifestations of X-linked OS are believed to be results of a malfunctioned gene, MID1, whose product has been shown to have ubiquitin E3 ligase activity and regulate the turnover of microtubular protein phosphatase 2Ac. MID2, a homolog of MID1, shares high structural and functional similarities with MID1. Identification of a missense mutation in MID2 in an Indian family causing overlapping phenotypes with OS provided the first evidence that MID2 might be involved in similar pathogenesis. The clinic features and the genetic findings of all reported X-linked OS were collectively summarized in this research. Real-time RT-PCR and in situ hybridization were used in the expression studies of Mid1/Mid2 in mouse embryos. Up-to-date, 88 different mutations have been identified in MID1 and most mutations occurred on the conserved amino acids of MID1 and MID2. Expression studies using real-time RT-PCR implicated a tendency of a mutually repressive expression pattern between Mid1 and Mid2 in mouse embryos. Further investigations using in situ hybridization revealed strong expressions of Mid1 and Mid2 in the epithelium of approaching facial prominences and downregulated expressions after fusion in mouse embryos. Our results support the hypothesis of functional redundancy of Mid1/Mid2 and their potential roles in regulating tissue remodelling in early development.

  4. Transient myelodysplastic syndrome in X-linked agammaglobulinemia with a novel Btk mutation.

    Science.gov (United States)

    Narula, Gaurav; Currimbhoy, Zinet

    2008-12-01

    X-linked agammaglobulinemia (XLA) is a rare disorder in which recurrent infections occur due to low serum globulins and circulating B lymphocytes caused by a mutation in the Bruton tyrosine kinase (Btk) gene. While myelodysplastic syndrome (MDS) associated with low B lymphocyte counts has been described, clonal cytogenetic abnormalities in confirmed cases of XLA have never been reported. We describe a case of XLA with a novel Btk mutation who also had a persistent clonal population in the bone marrow with abnormal cytogenetics in multiple chromosomes that resolved 1(1/2) years after treatment with IVIG, mimicking a picture of transient MDS.

  5. Persistence of left supracardinal vein in an adult patient with heart-hand syndrome and cardiac pacemaker.

    Science.gov (United States)

    Nemec, Jan; Heifetz, Steven

    2008-01-01

    A patient with a sporadic heart-hand syndrome, which includes thumb hypoplasia, septum primum atrial septal defect, and cleft mitral valve is described. During attempted placement of a pacemaker lead, persistence of left superior and inferior vena cava was found in addition to the right-sided caval veins. This corresponds to persistence of left-sided supracardinal vein present during fetal development.

  6. Acute Effects of a Therapeutic Mobility Device on Physical Activity and Heart Rate in Children with Down Syndrome

    Science.gov (United States)

    Hauck, Janet L.; Ulrich, Dale A.

    2015-01-01

    Purpose: The purpose of this feasibility study was to provide an opportunity to increase physical activity (PA) and heart rate (HR) for children with Down syndrome (DS) during unstructured group exercise utilizing a riding device called the Power Pumper®. Method: Twenty-four children aged 5 to 7 years old participated in this case-control study,…

  7. The link between neurosteroids and syndromic/syndromal components of the mood spectrum disorders in women during the premenstrual phase

    Directory of Open Access Journals (Sweden)

    Dell'Osso Liliana

    2008-02-01

    Full Text Available Abstract Objectives Females with a lifetime diagnosis of major mood disorder (Bipolar Disorder BD, Major Depressive Disorder MMD investigated during the luteal phase of their menstrual cycle and in a condition of clinical well-being showed higher blood serum concentrations of progesterone and allopregnanolone compared to healthy controls. Women with BD presented even higher levels than those affected by MDD. This study attempted to verify, in line with a dimensional approach, if the possible differences in neurohormonal levels may be directly linked to some syndromal clusters (dimensions of the mood spectrum disorders indipendently of diagnosis. Methods Premenstrual concentrations of allopregnanolone, THDOC, progesterone, and cortisol were measured in 3 groups of women: 17 BD and 14 MDD outpatients, and 16 control subjects. Psychiatric evaluation was performed with the SCID-I interview and the SCI-MOODS-SR questionnaire. The correlation between steroid levels and mood disorder syndromal cluster (SCI-MOODS-SR domains and sub-domains was evaluated by means of analysis of main components with Varimax rotation and Kaiser's normalization (which provided for inclusion of all components with an Eigen value >1. Results Analysis of the main components evidenced the presence of 3 components: 1 mania, 2 depression both with mixed component 3 steroid + manic cognitivity and suicidal ideas. Conclusion Levels of allopregnanolone and progesterone do not correlate with the association of the depressive and manic syndromes, but rather with mixed symptomatological aspects, and in particular with cognitive manic and depressive (with suicidal thoughts dimensions. Further studies should be carried out to confirm these findings.

  8. 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

  9. Growth signals, inflammation, and vascular perturbations: mechanistic links between obesity, metabolic syndrome, and cancer.

    Science.gov (United States)

    Hursting, Stephen D; Hursting, Marcie J

    2012-08-01

    Nearly 35% of adults and 20% of children in the United States are obese, defined as a body mass index ≥ 30 kg/m(2). Obesity, which is accompanied by metabolic dysregulation often manifesting in the metabolic syndrome, is an established risk factor for many cancers. Within the growth-promoting, proinflammatory environment of the obese state, cross talk between macrophages, adipocytes, and epithelial cells occurs via obesity-associated hormones, cytokines, and other mediators that may enhance cancer risk and progression. This review synthesizes the evidence on key biological mechanisms underlying the obesity-cancer link, with particular emphasis on obesity-associated enhancements in growth factor signaling, inflammation, and vascular integrity processes. These interrelated pathways represent possible mechanistic targets for disrupting the obesity-cancer link.

  10. How the Heart Works

    Science.gov (United States)

    ... Works Explore How the Heart Works What Is... Anatomy Contraction Circulation Electrical System Heart Disease Related Topics Arrhythmia Congenital Heart Defects Coronary Heart Disease Heart Valve Disease How the Lungs Work Send a link to NHLBI to someone ...

  11. 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.

  12. 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

    2014-01-01

    SUMMARY Background & aims 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. Methods 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. Results 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). Conclusion These data do not support an association between chocolate intake and the prevalence of MetS in US adult men and women. PMID:25126517

  13. 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.

  14. 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.

  15. Common links between metabolic syndrome and inflammatory bowel disease: Current overview and future perspectives.

    Science.gov (United States)

    Michalak, Arkadiusz; Mosińska, Paula; Fichna, Jakub

    2016-08-01

    Metabolic syndrome (MS) features a constellation of central obesity, dyslipidemia, impaired glucose metabolism and often hypertension joined by insulin resistance and chronic inflammation. All these elements greatly raise patient's risk of cardiovascular disease and type 2 diabetes, resulting in an increased mortality. Metabolic syndrome affects approximately 20-25% of the world's adult population and thus it is essential to study its pathophysiology and seek new pharmacological targets. There is a thoroughly studied link between MS and inflammatory diseases of the gastrointestinal (GI) system, i.e. steatohepatitis. However, recent findings also indicate similarities in pathophysiological features between MS and inflammatory bowel disease (IBD), including adipose tissue dysregulation, inadequate immune response, and inflammation. In this review we aim to outline the pathophysiology of MS and emphasize the aspects revealed recently, such as mineralocorticoid activity, involvement of sex hormones and an accompanying increase in prolactin secretion. More importantly, we focus on the common links between MS and IBD. Finally, we describe new strategies and drug targets that may be utilized in MS therapy, namely adiponectin mimetics, GLP-1-based multi agonists, ABCA1 agonists and possible role of miRNA. We also discuss the possible utility of selected agents as adjuvants in IBD therapy.

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

    Directory of Open Access Journals (Sweden)

    Senthil Arun Kumar

    2015-04-01

    Full Text Available 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.

  17. 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

    2015-04-14

    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.

  18. 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.

  19. Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?

    Science.gov (United States)

    Ng, David; Hadley, Donald W; Tifft, Cynthia J; Biesecker, Leslie G

    2002-07-15

    Nonsyndromic congenital microphthalmia or anophthalmia is a heterogeneous malformation with autosomal dominant, autosomal recessive, and X-linked modes of inheritance. Lenz microphthalmia syndrome comprises microphthalmia with mental retardation, malformed ears, skeletal anomalies, and is inherited in an X-linked recessive pattern. Prior studies have shown linkage of both isolated (or nonsyndromic) anophthalmos (ANOP1, [MIM 301590]) and Lenz syndrome [MIM 309800] to Xq27-q28. Nonsyndromic colobomatous microphthalmia [MIM 300345] has been linked to Xp11.4-Xq11.1. We describe a five-generation African-American family with microphthalmia or anophthalmia, mental retardation, and urogenital anomalies, in an X-linked recessive inheritance pattern, consistent with Lenz syndrome. Initial linkage analysis with microsatellite markers excluded the region in Xq27-q28 previously reported as a candidate region for ANOP1 [MIM 301590]. An X-chromosome scan revealed linkage to a 10-cM region between markers DXS228 and DXS992 in Xp11.4-p21.2. Multipoint analysis gave a maximum LOD score of 2.46 at marker DXS993. These data show that X-linked recessive syndromic microphthalmia exhibits genetic heterogeneity. In addition, it suggests that Lenz microphthalmia syndrome, previously thought to be a single disorder, may represent an amalgam of two distinct disorders.

  20. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

    Science.gov (United States)

    Sifrim, Alejandro; Hitz, Marc-Phillip; Wilsdon, Anna; Breckpot, Jeroen; Turki, Saeed H Al; Thienpont, Bernard; McRae, Jeremy; Fitzgerald, Tomas W; Singh, Tarjinder; Swaminathan, Ganesh Jawahar; Prigmore, Elena; Rajan, Diana; Abdul-Khaliq, Hashim; Banka, Siddharth; Bauer, Ulrike M M; Bentham, Jamie; Berger, Felix; Bhattacharya, Shoumo; Bu'Lock, Frances; Canham, Natalie; Colgiu, Irina-Gabriela; Cosgrove, Catherine; Cox, Helen; Daehnert, Ingo; Daly, Allan; Danesh, John; Fryer, Alan; Gewillig, Marc; Hobson, Emma; Hoff, Kirstin; Homfray, Tessa; Kahlert, Anne-Karin; Ketley, Ami; Kramer, Hans-Heiner; Lachlan, Katherine; Lampe, Anne Katrin; Louw, Jacoba J; Manickara, Ashok Kumar; Manase, Dorin; McCarthy, Karen P; Metcalfe, Kay; Moore, Carmel; Newbury-Ecob, Ruth; Omer, Seham Osman; Ouwehand, Willem H; Park, Soo-Mi; Parker, Michael J; Pickardt, Thomas; Pollard, Martin O; Robert, Leema; Roberts, David J; Sambrook, Jennifer; Setchfield, Kerry; Stiller, Brigitte; Thornborough, Chris; Toka, Okan; Watkins, Hugh; Williams, Denise; Wright, Michael; Mital, Seema; Daubeney, Piers E F; Keavney, Bernard; Goodship, Judith; Abu-Sulaiman, Riyadh Mahdi; Klaassen, Sabine; Wright, Caroline F; Firth, Helen V; Barrett, Jeffrey C; Devriendt, Koenraad; FitzPatrick, David R; Brook, J David; Hurles, Matthew E

    2016-09-01

    Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (∼2.7%), suggesting a considerable role for de novo mutations (DNMs) and/or incomplete penetrance. De novo protein-truncating variants (PTVs) have been shown to be enriched among the 10% of 'syndromic' patients with extra-cardiac manifestations. We exome sequenced 1,891 probands, including both syndromic CHD (S-CHD, n = 610) and nonsyndromic CHD (NS-CHD, n = 1,281). In S-CHD, we confirmed a significant enrichment of de novo PTVs but not inherited PTVs in known CHD-associated genes, consistent with recent findings. Conversely, in NS-CHD we observed significant enrichment of PTVs inherited from unaffected parents in CHD-associated genes. We identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1. Our study finds evidence for distinct genetic architectures underlying the low sibling recurrence risk in S-CHD and NS-CHD.

  1. Effects of inhaled iloprost on congenital heart disease with Eisenmenger syndrome.

    Science.gov (United States)

    Yang, Song I; Chung, Wook Jin; Jung, Sung Hwan; Choi, Deok Young

    2012-06-01

    Identification of the pathophysiology associated with Eisenmenger syndrome has led to the evaluation of targeted therapies. Iloprost is one such targeted therapy used for patients with Eisenmenger syndrome. This study aimed to assess the efficacy and safety of iloprost used for patients with Eisenmenger syndrome. In this study, 12 patients with Eisenmenger syndrome (mean age, 33.2 ± 12.1 years; 75% female) started receiving iloprost 10 μg/dose administered six times a day. Of the 12 patients, 9 were classified as New York Heart Association (NYHA) functional class 3, and three were categorized as functional class 4. Changes in 6-min walk distance, NYHA functional class, oxygen saturation at resting, and results after the 6-min walk test were checked, as well as changes in right ventricle diameter and pulmonary arterial pressure shown by echocardiography. The distance during a 6-min walk increased from 255.8 ± 120.4 to 349.4 ± 134.7 m (p = 0.013), and 10 patients improved their NYHA functional class by one grade (p = 0.007). The mean resting oxygen saturation (SpO(2)) increased from 80.6 ± 14.2 to 84.9 ± 13.0% (p = 0.040), and after the 6-min walk test, it increased from 63.8 ± 22.9 to 68.8 ± 21.5% (p = 0.007). The mean right ventricle diameter during the diastolic phase changed from 53.7 ± 4.8 to 51.4 ± 3.9 mm (p = 0.068), and the mean pulmonary arterial pressure changed from 62.8 ± 13.7 to 58.9 ± 11.7 mmHg (p = 0.059). Neither death nor critical adverse effects occurred for any patients. Mild headache and dyspnea were common reports during the iloprost treatments. No patients stopped the therapy due to these adverse effects. Iloprost is well tolerated and appears to be beneficial in the management of patients with Eisenmenger syndrome.

  2. 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.

  3. Linking the Heart and the Head: Humanism and Professionalism in Medical Education and Practice.

    Science.gov (United States)

    Montgomery, Lynda; Loue, Sana; Stange, Kurt C

    2017-05-01

    This paper articulates a practical interpretive framework for understanding humanism in medicine through the lens of how it is taught and learned. Beginning with a search for key tensions and relevant insights in the literature on humanism in health professions education, we synthesized a conceptual model designed to foster reflection and action to realize humanistic principles in medical education and practice. The resulting model centers on the interaction between the heart and the head. The heart represents the emotive domains of empathy, compassion, and connectedness. The head represents the cognitive domains of knowledge, attitudes, and beliefs. The cognitive domains often are associated with professionalism, and the emotive domains with humanism, but it is the connection between the two that is vital to humanistic education and practice. The connection between the heart and the head is nurtured by critical reflection and conscious awareness. Four provinces of experience nurture humanism: (1) personal reflection, (2) action, (3) system support, and (4) collective reflection. These domains represent potential levers for developing humanism. Critical reflection and conscious awareness between the heart and head through personal reflection, individual and collective behavior, and supportive systems has potential to foster humanistic development toward healing and health.

  4. Childhood Psychopathology and Autonomic Dysregulation: Exploring the Links Using Heart Rate Variability

    Science.gov (United States)

    Srinivasan, Krishnamachari

    2007-01-01

    Changes in cardiovascular reactivity have been used as a psychophysiological marker of various emotional states in both children and adults. Recent decades have seen increasing use of heart rate variability as a non-invasive marker of cardiac autonomic function and of central processes involved in autonomic function regulation. Developmental…

  5. 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

  6. Reduced heart rate variability predicts poor sleep quality in a case-control study of chronic fatigue syndrome.

    Science.gov (United States)

    Burton, A R; Rahman, K; Kadota, Y; Lloyd, A; Vollmer-Conna, U

    2010-07-01

    Parasympathetic function is important in the induction and maintenance of sleep. We examined whether nocturnal vagal modulation of heart rate is related to the poor sleep quality commonly reported in chronic fatigue syndrome (CFS). Heart rate (HR, as R-R intervals) was continuously monitored during sleep in 20 patients with CFS and 20 matched control subjects. Questionnaires assessed demographic information, symptoms, functional impairment, and subjective sleep quality. CFS was associated with more sleep problems in general and poorer subjective sleep quality on the study night (all p sleep were significantly lower in patients with CFS (all p heart rate variability (HRV) parameters were the best predictors of subjective sleep measures. This study identified significant reductions in vagal modulation of heart rate during sleep in CFS. Low HRV strongly predicted sleep quality-suggesting a pervasive state of nocturnal sympathetic hypervigilance in CFS.

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

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    Radu Ioan Lala

    2016-01-01

    Full Text Available Abstract Background: 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. Objectives: 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. Methods: 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. Results: 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. Conclusions: 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

  8. 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.

  9. Associations of adiponectin with metabolic and vascular risk parameters in the British Regional Heart Study reveal stronger links to insulin resistance-related than to coronory heart disease risk-related parameters.

    Science.gov (United States)

    Wannamethee, S G; Tchernova, J; Whincup, P; Lowe, G D; Rumley, A; Brown, K; Cherry, L; Sattar, N

    2007-07-01

    Adiponectin is considered by many to be part of the 'common soil' linking type 2 diabetes and coronary heart disease (CHD). We examined the relationship between adiponectin and insulin resistance, metabolic, inflammatory and haemostatic risk factors and hepatic function. The study was carried out in 3640 non-diabetic men aged 60-79 years drawn from general practices in 24 British towns and who were not on warfarin. Adiponectin was associated with waist circumference (inversely), alcohol intake (positively) and physical activity (nonlinearly); no association was seen with cigarette smoking, prevalent CHD or stroke. After adjustment for these factors, adiponectin was significantly inversely associated with insulin resistance, triglyceride, C-reactive protein (but not interleukin 6), tissue plasminogen activator and alanine aminotransferase and positively associated with high-density lipoprotein cholesterol (HDL-cholesterol) and Factor VIII, factors associated with diabetes. No association was seen with cholesterol, smoking, systolic blood pressure or coagulation factors. Risk of the metabolic syndrome decreased significantly with increasing adiponectin. Adiponectin is inversely associated with factors strongly associated with the development of diabetes. Limited associations with the established major risk factors for CHD suggest adiponectin may be a stronger marker of risk for diabetes than for CHD.

  10. Linking restless legs syndrome with Parkinson's disease: clinical, imaging and genetic evidence

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    Peeraully Tasneem

    2012-02-01

    Full Text Available Abstract Restless legs syndrome (RLS and Parkinson's disease (PD are both common neurological disorders. There has been much debate over whether an etiological link between these two diseases exists and whether they share a common pathophysiology. Evidence pointing towards a link includes response to dopaminergic agents in PD and RLS, suggestive of underlying dopamine dysfunction in both conditions. The extrastriatal dopaminergic system, in particular altered spinal dopaminergic modulation, may be variably involved in PD patients with RLS symptoms. In addition, there is now evidence that the nigrostriatal system, primarily involved in PD, is also affected in RLS. Furthermore, an association of RLS with the parkin mutation has been suggested. The prevalence of RLS has also been reported to be increased in other disorders of dopamine regulation. However, clinical association studies and functional imaging have produced mixed findings. Conflicting accounts of emergence of RLS and improvement in RLS symptoms after deep brain stimulation (DBS also contribute to the uncertainty surrounding the issue. Among the strongest arguments against a common pathophysiology is the role of iron in RLS and PD. While elevated iron levels in the substantia nigra contribute to oxidative stress in PD, RLS is a disorder of relative iron deficiency, with symptoms responding to replacement therapy. Recent ultrasonography studies have suggested that, despite overlapping clinical features, the mechanisms underlying idiopathic RLS and RLS associated with PD may differ. In this review, we provide a concise summary of the clinical, imaging and genetic evidence exploring the link between RLS and PD.

  11. The association of metabolic syndrome and ischemic heart disease using resting electrocardiogram in the Northern Persian Gulf adults

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    Ebrahim Shafiee

    2005-02-01

    Full Text Available Metabolic syndrome comprises insulin resistance, abdominal fat distribution, dyslipidemia, and hypertension. The metabolic syndrome is expected to be diagnosed in millions of subjects in the near future worldwide. There are very few data in literature clearly documenting that subjects with metabolic syndrome have an increased cardiovascular risk. In a cross-sectional study, we used National Cholesterol Education Program (NCEP-Adult Treatment Panel (ATP-III criteria and Minnesota Code of a 12-lead resting electrocardiogram (ECG to assess in 3723 subjects, aged 25 years and over, selected by cluster random sampling in three Iranian ports in the northern Persian Gulf. Electrocardiogram with evidence of IHD (IHD ECG was defined as myocardial infarction (Codes 1.1 and 1.2 and ischemia (Codes 1.3, 4.1-4.4, 5.1-5.3 and 7.1 together. An estimated 49.08% (52.04% of males and 46.34% of females were identified as fulfilling NCEP-ATP III criteria for diagnosing the metabolic syndrome. Prevalence of EKG with evidence of ischemic heart disease (IHD ECG was 12.7% (10.4% for men and 14.7% for women p<0.0001. In multiple logistic regression analysis, metabolic syndrome was found to have a significant association with IHD ECG [OR=1.35, C.I (1.09-1.66 p=0.005] after adjusting for sex and age. The association of metabolic syndrome and IHD ECG in the study population increased monotonically with increasing number of metabolic syndrome components. In conclusion, the metabolic syndrome, which occurs very frequently in the general population, has a significant association with nonfatal ischemic heart disease by electrocardiogram criteria.

  12. A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.

    Science.gov (United States)

    Lederer, Damien; Shears, Debbie; Benoit, Valérie; Verellen-Dumoulin, Christine; Maystadt, Isabelle

    2014-05-01

    Kabuki syndrome is a rare malformation syndrome characterized by a typical facial appearance, skeletal anomalies, cardiac malformation, and mild to moderate intellectual disability. In 55-80% of patients with Kabuki syndrome, a mutation in MLL2 is identified. Recently, eight patients with Kabuki syndrome and a mutation in KDM6A were described. In this report, we describe two brothers with a mutation in KDM6A inherited from their mother and maternal grandmother. The two boys have Kabuki-like phenotypes whereas the mother and grandmother present with attenuated phenotypes. This family represents the first instance of hereditary X-linked Kabuki syndrome. We present a short literature review of the patients described with a mutation in KDM6A.

  13. Exploration of Syndrome Differentiation Patterns in Coronary Heart Disease Patients during Peri-Operative Stage of Coronary Artery Bypass Graft

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Objective: To explore the patterns of Syndrome Differentiation (SD) of coronary heart disease (CHD) patients in peri-operative stage of coronary artery bypass graft (CABG). Methods: One week after operation, thirty-seven CHD patients, who received CABG of internal mammary artery or great saphena vein under conventional general anesthesia with low or middle temperature extracorporeal circulation were differentiated as various syndromes, with the pre- or post-operational EKG, color Doppler echocardiography were done during and after operation. The hemodynamic parameters were monitored. Results: In the CHD patients, 64.9% were differentiated as Qi-Yin deficiency, 67.6% were complicated with phlegm syndrome and 62.2% with blood stasis, suggesting that Qi-deficiency, phlegm and stasis are the basic pathogenetic factors in patients with CABG. Moreover, the peri-operative syndrome was correlated with the condition of coronary artery lesion, heart and lung functions before operation, and the extracorporeal circulation time during the operation. Conclusion: TCM SD conducting in peri-operative stage might be useful in exploring the patterns of syndrome alteration which provided a basis for preventing peri-operative complications and elevating success rate of operation.

  14. Craniosynostosis, ectopia lentis, and congenital heart defects: further delineation of an autosomal dominant syndrome with incomplete penetrance.

    Science.gov (United States)

    Quercia, Nada L; Teebi, Ahmad S

    2002-01-01

    The association of craniosynostosis with ectopia lentis is extremely rare. This was recently reported in monozygotic twin sisters, supporting a genetic etiology for this syndromic association. We report on female first cousins once removed who were born with unilateral coronal synostosis. One cousin also had peripheral pulmonic branch stenosis at birth and was later found to have ectopia lentis and severe myopia. The other cousin had an atrial septal defect, mitral valve prolapse, and only mild myopia. Their intelligence is normal. The inheritance is likely autosomal dominant with variable expression and incomplete penetrance and further defines this syndrome to include congenital heart defects. These findings will have important implications for genetic counseling.

  15. 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.

    2013-01-01

    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.

  16. X-Linked Agammaglobulinemia Presenting with Secondary Hemophagocytic Syndrome: A Case Report

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    Can Ozturk

    2013-01-01

    Full Text Available Introduction. Coincidence of X-linked agammaglobulinemia (XLA and secondary hemophagocytic syndrome (sHS is atypical. Both diseases are rare and pathogenesis of the latter one is not clearly known. Case Presentation. A 5-year-old boy was diagnosed both with XLA and sHS. However, in his history, he did not have severe and recurrent infections. Bruton tyrosine kinase (BTK gene mutation was present (c.1581_1584delTTTG. To the best of the authors’ knowledge, coincidence of XLA and sHS had not been reported in the literature before. Conclusion. Patients with XLA are extremely vulnerable to recurrent bacterial infections. The diagnosis of XLA with sHS at any time of life is both an interesting and challenging situation without history of recurrent bacterial infections.

  17. Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia

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    Göksel Leblebisatan

    2011-06-01

    Full Text Available Wiskott-Aldrich syndrome (WAS is a clinical condition characterized by thrombocytopenia, eczema, and life-threatening infections. In some cases autoimmunity-related problems and even malignancy might be seen; however, some patients have milder clinical manifestations due to mutations in the same gene family, such as in X-linked thrombocytopenia (XLT, which is generally not associated with serious symptoms of disease, except for thrombocytopenia. Herein we report 2 siblings with chronic thrombocytopenia that were diagnosed with XLT based on a missense mutation in the WASP gene (223G>A, Val75Met. To the best of our knowledge this mutation has not been previously reported in a Turkish patient with XLT.

  18. 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.

  19. 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

  20. Molecular basis for the Kallmann syndrome-linked fibroblast growth factor receptor mutation

    Energy Technology Data Exchange (ETDEWEB)

    Thurman, Ryan D.; Kathir, Karuppanan Muthusamy; Rajalingam, Dakshinamurthy [Department of Chemistry and Biochemistry, University of Arkansas, Fayetteville, AR 72701 (United States); Kumar, Thallapuranam K. Suresh, E-mail: sthalla@uark.edu [Department of Chemistry and Biochemistry, University of Arkansas, Fayetteville, AR 72701 (United States)

    2012-08-31

    Highlights: Black-Right-Pointing-Pointer The structural basis of the Kallmann syndrome is elucidated. Black-Right-Pointing-Pointer Kallmann syndrome mutation (A168S) induces a subtle conformational change(s). Black-Right-Pointing-Pointer Structural interactions mediated by beta-sheet G are most perturbed. Black-Right-Pointing-Pointer Ligand (FGF)-receptor interaction(s) is completely abolished by Kallmann mutation. Black-Right-Pointing-Pointer Kallmann mutation directly affects the FGF signaling process. -- Abstract: Kallmann syndrome (KS) is a developmental disease that expresses in patients as hypogonadotropic hypogonadism and anosmia. KS is commonly associated with mutations in the extracellular D2 domain of the fibroblast growth factor receptor (FGFR). In this study, for the first time, the molecular basis for the FGFR associated KS mutation (A168S) is elucidated using a variety of biophysical experiments, including multidimensional NMR spectroscopy. Secondary and tertiary structural analysis using far UV circular dichroism, fluorescence and limited trypsin digestion assays suggest that the KS mutation induces subtle tertiary structure change in the D2 domain of FGFR. Results of isothermal titration calorimetry experiments show the KS mutation causes a 10-fold decrease in heparin binding affinity and also a complete loss in ligand (FGF-1) binding. {sup 1}H-{sup 15}N chemical perturbation data suggest that complete loss in the ligand (FGF) binding affinity is triggered by a subtle conformational change that disrupts crucial structural interactions in both the heparin and the FGF binding sites in the D2 domain of FGFR. The novel findings reported in this study are expected to provide valuable clues toward a complete understanding of the other genetic diseases linked to mutations in the FGFR.

  1. Corneal Cross-Linking in a 4-Year-Old Child With Keratoconus and Down Syndrome.

    Science.gov (United States)

    Sabti, Saad; Tappeiner, Christoph; Frueh, Beatrice E

    2015-09-01

    To describe the clinical outcome of corneal cross-linking (CXL) in a young child with keratoconus. This is a case report of a young girl with keratoconus with ophthalmologic findings and 3-year follow-up. Follow-up visits included visual acuity measurement, retinoscopy, corneal tomography, and topography. A girl with Down syndrome was diagnosed with bilateral keratoconus and relative amblyopia at the age of 4 years. The best-corrected near visual acuity was 20/100 binocularly. Corneal tomography showed the following parameters: OD K(max) 47.2 diopters (D), thinnest location 442 μm; OS K(max) 49.6 D, thinnest location 432 μm. Three months later, the keratoconus in the left eye progressed (K(max) 50.2 D, thinnest location 424 μm), and CXL was performed. One year later, CXL was necessary also in the right eye because of progression. The girl was most recently reexamined at the age of 7 years. The corrected near visual acuity was 20/80 in both eyes. The corneal curvature slightly flattened, and the corneal thickness stabilized (OD K(max) 46.8 D, thinnest location 389 μm; OS K(max) 49.4 D, thinnest location 360 μm). Onset of keratoconus can occur in early childhood, especially in patients with Down syndrome. In this case, CXL was performed at 4 and 5 years of age without complications and stopped further keratoconus progression.

  2. Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci

    Energy Technology Data Exchange (ETDEWEB)

    Carmi, R.; Elbedour, K. [Ben-Gurion Univ., Beer-Sheva (Israel); Stone, E.M.; Sheffield, V.C. [Univ. of Iowa, IA (United States)

    1995-11-06

    Bardet-Biedl syndrome (BBS) is an autosomal-recessive disorder of mental retardation, obesity, retinal dystrophy, polydactyly, and hypogenitalism. Renal and cardiac abnormalities are also frequent in this disorder. Previous clinical suggestions of heterogeneity of BBS were confirmed recently by the identification of four different chromosome loci linked to the disease. In this study we compared clinical manifestations of the syndrome in patients form 3 unrelated, extended Arab-Bedouin kindreds which were used for the linkage mapping of the BBS loci to chromosomes 3, 15, and 16. The observed differences included the limb distribution of the postaxial polydactyly and the extent and age-association of obesity. It appears that the chromosome 3 locus is associated with polydactyly of all four limbs, while polydactyly of the chromosome 15 type is mostly confined to the hands. On the other hand, the chromosome 15 type is associated with early-onset morbid obesity, while the chromosome 16 type appears to present the {open_quotes}leanest{close_quotes} form of BBS. Future cloning of the various BB genes will contribute to the understanding of the molecular basis of limb development and the identification of human obesity-related genes. 22 refs., 1 fig., 4 tabs.

  3. Systemic inflammatory response syndrome after pediatric congenital heart surgery: Incidence, risk factors, and clinical outcome.

    Science.gov (United States)

    Boehne, Martin; Sasse, Michael; Karch, André; Dziuba, Friederike; Horke, Alexander; Kaussen, Torsten; Mikolajczyk, Rafael; Beerbaum, Philipp; Jack, Thomas

    2017-02-01

    Systemic inflammatory response syndrome (SIRS) is frequent after cardiac surgery, but data on its incidence and perioperative risk factors are scarce for children with congenital heart disease. SIRS incidence within 72 hours following cardiac surgery was evaluated in a secondary analysis of children enrolled to a treatment-free control group of a randomized controlled trial. Intraoperative parameters were investigated for their association with SIRS using multivariable fractional polynomial logistic regression models. Effects of SIRS on various organ functions and length of stay were evaluated using time-varying Cox regression models. In 116 children after cardiac surgery (median age [range]: 7.4 month [1 day-16.2 years]) SIRS occurred in n = 39/102 with and n = 1/14 without cardiopulmonary bypass (CPB). Duration of CPB (hazard ratio [HR]: 2.28 per hour; 95% confidence interval [CI] 1.17; 4.42) and amount of fresh frozen plasma (HR: 1.23 per 10 mL/kg; 95%CI 1.06; 1.42) were identified as predictors for SIRS; neonates seemed to be less susceptible for SIRS development (HR: 0.86; 95%CI 0.79; 0.95). SIRS was associated with organ dysfunction (HR: 2.69; 95%CI 1.41; 5.12) and extended stay in the pediatric intensive care unit (PICU) (median: 168 vs. 96 hours; p = 0.007). SIRS is a frequent complication after pediatric congenital heart surgery; it affects nearly one third of children and prolongs PICU stay significantly. Duration of CPB and amount of fresh frozen plasma were identified as important risk factors. Neonates seem to be less susceptible to SIRS development. © 2016 Wiley Periodicals, Inc.

  4. Cardiorenal Anemia Syndrome and Survival among Heart Failure Patients in Tanzania: A Prospective Cohort Study.

    Science.gov (United States)

    Pallangyo, Pedro; Fredrick, Francis; Bhalia, Smita; Nicholaus, Paulina; Kisenge, Peter; Mtinangi, Benjamin; Janabi, Mohamed; Humphrey, Stephen

    2017-02-14

    Cardiorenal anemia syndrome (CRAS) is an evolving global epidemic associated with increased morbimortality and cost of care. The management of patients with CRAS remains a challenging undertaking worldwide and the lack of evidence-based clinical guidelines adds to the challenge. We aimed to explore the prevalence and survival rates of heart failure patients with CRAS in Tanzania. We screened 789 patients and consecutively recruited 463 who met the inclusion criteria. Each participant underwent an interview, physical examination, anthropometric measurements, anemia, renal functions and echocardiographic assessment. All participants were followed until death or for up-to 180 days, whichever came first. Bivariate comparison and subsequent Cox proportional-hazards regression model were used to compare the CRAS and non-CRAS groups with respect to the primary end point. The mean age of participants was 46.4 ± 18.9 years, and 56.5% were women. Overall, 51.9% of participants had renal insufficiency, 72.8% were anemic and 44.4% had CRAS. During a mean follow-up of 103 ± 75 days, 57.8% of participants died. Patients with CRAS displayed a higher mortality rate (73.5%) compared to those free of CRAS (45.8%), (p renal dysfunction (HR 1.9; 95% CI 1.0-3.5; p = 0.03), severe anemia (HR 1.8; 95% CI 1.0-3.1; p = 0.04), hyponatremia (HR 2.2; 95% CI 1.3-3.7; p = 0.004) and rehospitalization (HR 4.3; 95% CI 2.2-8.4; p anemia syndrome is considerably prevalent and is associated with an increase in mortality amongst patients with heart failure. In view of this, timely, aggressive and collaborative measures to improve renal functions and/or correct anemia are crucial in the management of CRAS patients. Furthermore, these findings call for guideline committees to revise and/or develop evidence-based recommendations for management of patients with CRAS.

  5. High-Frequency Heart Rate Variability Linked to Affiliation with a New Group.

    Directory of Open Access Journals (Sweden)

    Baljinder K Sahdra

    Full Text Available This study tests the hypothesis that high levels of high-frequency heart rate variability (HF-HRV predisposes individuals to affiliate with new groups. Resting cardiac physiological recordings were taken before and after experimental sessions to measure trait high-frequency heart rate variability as an index of dispositional autonomic influence on heart rate. Following an experimental manipulation of priming of caring-related words, participants engaged in a minimal group paradigm, in which they imagined being a member of one of two arbitrary groups, allocated money to members of the two groups, and rated their affiliation with the groups. High levels of HF-HRV were associated with ingroup favouritism while allocating money, an effect largely attributable to a positive relationship between HF-HRV and allocation of money to the ingroup, and less due to a negative relationship between HF-HRV and money allocation to the outgroup. HF-HRV was also associated with increased self-reported affiliation feelings for the ingroup but was unrelated to feelings towards the outgroup. These effects remained substantial even after controlling for age, gender, BMI, mood, caffeine consumption, time of day of data collection, smoking and alcohol behaviour, and respiration rate. Further, the effects were observed regardless of whether participants were primed with caring-related words or not. This study is the first to bridge a long history of research on ingroup favouritism to the relatively recent body of research on cardiac vagal tone by uncovering a positive association between HF-HRV and affiliation with a novel group.

  6. Linking Epigenetics to Human Disease and Rett Syndrome: The Emerging Novel and Challenging Concepts in MeCP2 Research

    OpenAIRE

    Robby Mathew Zachariah; Mojgan Rastegar

    2012-01-01

    Epigenetics refer to inheritable changes beyond DNA sequence that control cell identity and morphology. Epigenetics play key roles in development and cell fate commitments and highly impact the etiology of many human diseases. A well-known link between epigenetics and human disease is the X-linked MECP2 gene, mutations in which lead to the neurological disorder, Rett Syndrome. Despite the fact that MeCP2 was discovered about 20 years ago, our current knowledge about its molecular function is ...

  7. Prognostic impact of atrial fibrillation on clinical outcomes of acute coronary syndromes,heart failure and chronic kidney disease

    Institute of Scientific and Technical Information of China (English)

    Nileshkumar; J; Patel; Aashay; Patel; Kanishk; Agnihotri; Dhaval; Pau; Samir; Patel; Badal; Thakkar; Nikhil; Nalluri; Deepak; Asti; Ritesh; Kanotra; Sabeeda; Kadavath; Shilpkumar; Arora; Nilay; Patel; Achint; Patel; Azfar; Sheikh; Neil; Patel; Apurva; O; Badheka; Abhishek; Deshmukh; Hakan; Paydak; Juan; Viles-Gonzalez

    2015-01-01

    Atrial fibrillation(AF) is the most common type of sustained arrhythmia,which is now on course to reach epidemic proportions in the elderly population. AF is a commonly encountered comorbidity in patients with cardiac and major non-cardiac diseases. Morbidity and mortality associated with AF makes it a major healthcare burden. The objective of our article is to determine the prognostic impact of AF on acute coronary syndromes,heart failure and chronic kidney disease. Multiple studies have been conducted to determine if AF has an independent role in the overall mortality of such patients. Our review suggests that AF has an independent adverse prognostic impact on the clinical outcomes of acute coronary syndromes,heart failure and chronic kidney disease.

  8. The Effect of Ivabradine on the Heart Rate and Sympathovagal Balance in Postural Tachycardia Syndrome Patients

    Directory of Open Access Journals (Sweden)

    Merav Barzilai

    2015-07-01

    Full Text Available Background: Postural tachycardia syndrome (POTS is a common form of chronic orthostatic intolerance. The remarkable increase in heart rate (HR upon standing is the hallmark of this syndrome. Treatment of POTS patients is challenging and includes drugs that slow the HR. Ivabradine is a selective If channel blocker designed to slow the HR, as an anti-anginal agent. In view of its ability to slow the HR, we posited that ivabradine may be an ideal medication for treating POTS patients. This report provides the results of an investigation in which we studied ivabradine’s effect on the hemodynamics and sympathovagal balance in POTS patients. Methods: An open-label trial, without a placebo control, was performed in eight patients with POTS of two years’ standing. Characterization of symptoms, hemodynamics, autonomic function tests, and HR and blood pressure (BP variability were determined while patients were in a supine position and during a 20-minute head-up tilt before and after a single oral dose of 7.5 mg ivabradine. Results: Ivabradine slowed the HR of POTS patients at rest by 4±1 bpm (P<0.05. During a 5-minute head-up tilt, the HR decreased from 118±4 bpm to 101±5 bpm (P<0.01. Ivabradine did not affect the BP when patients were at rest in a supine position or in head-up tilt position. Cardiovascular vagal and sympathetic tone, extrapolated from the time and frequency domains of the HR and BP variability, were also not affected by ivabradine. Conclusions: Ivabradine is an effective drug for slowing the HR of POTS patients at rest and during tilting, without producing significant adverse effects. Moreover, ivabradine exerts its effects without influencing the sympathovagal balance.

  9. In vitro white spot syndrome virus (WSSV) replication in explants of the heart of freshwater crab, Paratelphusa hydrodomous.

    Science.gov (United States)

    Nathiga Nambi, K S; Abdul Majeed, S; Sundar Raj, N; Taju, G; Madan, N; Vimal, S; Sahul Hameed, A S

    2012-08-01

    Explants from different organs of freshwater crab, Paratelphusa hydrodomous were prepared to establish an in vitro system for replication of white spot syndrome virus (WSSV) of shrimp. Heart explants were maintained for 53 days without any morphological changes in EX-CELL™ 405 medium with and without serum whereas the explants of eye muscle, gill, shell membrane and appendage muscle died within 15 days of culture period. The heart explants on different days of culture were exposed to WSSV for 10 days to study the viral replication. The infection of WSSV in explants of the heart was confirmed by PCR, RT-PCR, Western blot, histology, immunohistochemistry, bioassay and transmission electron microscopy. The WSSV was quantified by real-time PCR and indirect ELISA. The WSSV inoculum prepared from the heart explants of crab caused significant mortality in Penaeus monodon in challenge experiments and the results indicate that the WSSV which replicated in the heart explants of freshwater crab maintains its infectivity as in marine shrimp. The results indicate that the heart explants of P. hydrodomous would be a good alternative to whole animals for production of WSSV.

  10. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    National Research Council Canada - National Science Library

    Mohan Makwana; R. K. Vishnoi; Jai Prakash Soni; Kapil Jetha; Suresh Kumar Verma; Pradeep Singh Rathore; Monika Choudhary

    2017-01-01

    ...,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease...

  11. Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).

    Science.gov (United States)

    Herman, Gail E; Kelley, Richard I; Pureza, V; Smith, D; Kopacz, Kevin; Pitt, James; Sutphen, Rebecca; Sheffield, Leslie J; Metzenberg, Aida B

    2002-01-01

    Human X-linked dominant chondrodysplasia punctata (CDPX2) or Happle syndrome is associated with mutations in the human emopamil binding protein (EBP), a delta8-delta7-sterol isomerase involved in cholesterol biosynthesis. The purpose of the current study was to determine the spectrum of EBP mutations in females with CDPX2 and the utility of biochemical screening for the disorder by analysis of plasma sterols. Genomic sequencing of the coding exons of the human delta8-delta7-sterol isomerase gene was performed on DNA from 26 females with suspected X-linked dominant chondrodysplasia punctata. Clinical data and sterol analyses were obtained for 24 and 23 of the patients, respectively. Mutations in the human EBP delta8-delta7-sterol isomerase gene were found in 22 (85%) of 26 females studied, including 20 (91%) of 22 patients who demonstrated an abnormal sterol profile. Thirteen of the mutations have not been reported previously. All of the females in whom mutations were found demonstrated typical skin manifestations of CDPX2, and all but one had a skeletal dysplasia. Plasma sterol analysis was a highly specific and sensitive indicator of the presence of an EBP mutation in females with suspected CDPX2, including a clinically unaffected mother of a sporadic case. No clear genotype/phenotype correlations were ascertained, probably because phenotypic expression is influenced substantially by the pattern of X-inactivation in an affected female.

  12. Interstage Home Monitoring After Newborn First-Stage Palliation for Hypoplastic Left Heart Syndrome: Family Education Strategies.

    Science.gov (United States)

    Nieves, Jo Ann; Uzark, Karen; Rudd, Nancy A; Strawn, Jennifer; Schmelzer, Anne; Dobrolet, Nancy

    2017-04-01

    Children born with hypoplastic left heart syndrome are at high risk for serious morbidity, growth failure, and mortality during the interstage period, which is the time from discharge home after first-stage hypoplastic left heart syndrome palliation until the second-stage surgical intervention. The single-ventricle circulatory physiology is complex, fragile, and potentially unstable. Multicenter initiatives have been successfully implemented to improve outcomes and optimize growth and survival during the interstage period. A crucial focus of care is the comprehensive family training in the use of home surveillance monitoring of oxygen saturation, enteral intake, weight, and the early recognition of "red flag" symptoms indicating potential cardiopulmonary or nutritional decompensation. Beginning with admission to the intensive care unit of the newborn with hypoplastic left heart syndrome, nurses provide critical care and education to prepare the family for interstage home care. This article presents detailed nursing guidelines for educating families on the home care of their medically fragile infant with single-ventricle circulation. ©2017 American Association of Critical-Care Nurses.

  13. Emergency coronary artery bypass graft surgery for acute coronary syndrome: beating heart versus conventional cardioplegic cardiac arrest strategies.

    Science.gov (United States)

    Rastan, Ardawan Julian; Eckenstein, Judith Isabell; Hentschel, Bettina; Funkat, Anne Kathrin; Gummert, Jan Fritz; Doll, Nicolas; Walther, Thomas; Falk, Volkmar; Mohr, Friedrich Wilhelm

    2006-07-04

    Aim of this study was to compare the outcome of beating heart versus conventional coronary artery bypass graft (CABG) strategies in acute coronary syndromes for emergency indications. 638 consecutive patients with acute coronary syndrome (ACS) receiving emergency CABG surgery via midline sternotomy from January 2000 to September 2005 were evaluated. Propensity score analysis was used to predict the probability of undergoing beating heart (BH) (n=240) versus cardioplegic cardiac arrest (CA) (n=398) strategies. Patients presented with stable hemodynamics (n=531) or in cardiogenic shock (CS) (n=107). Hospital and follow-up outcome was compared by propensity score adjusted multiregression analysis. BH included 116 on-pump and 124 off-pump (OPCAB) procedures. There was a propensity to operate CS patients on the beating heart (multivariate odds ratio [OR], 3.8; P=0.001). Under stable hemodynamics significant predictors for BH selection were logEuroSCORE >20% (OR, 2.05), creatinine >1.8 mg/dL (OR, 4.12), complicated percutaneous coronary intervention (OR, 1.88), ejection fraction coronary syndrome with or without CS.

  14. Upregulation of skeletal muscle inflammatory genes links inflammation with insulin resistance in women with the metabolic syndrome

    NARCIS (Netherlands)

    Poelkens, F.; Lammers, G.; Pardoel, E.M.; Tack, C.J.J.; Hopman, M.T.E.

    2013-01-01

    The metabolic syndrome, a combination of interrelated metabolic risk factors, is associated with insulin resistance and promotes the development of cardiovascular diseases and type 2 diabetes mellitus. There is a close link between inflammation and metabolic disease, but the responsible mechanisms r

  15. Heart rate at discharge and long-term prognosis following percutaneous coronary intervention in stable and acute coronary syndromes - results from the BASKET PROVE trial

    DEFF Research Database (Denmark)

    Jensen, Magnus Thorsten; Kaiser, Christoph; Sandsten, Karl Erik;

    2013-01-01

    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...

  16. Congenital Heart Disease in Cornelia de Lange Syndrome: Phenotype and Genotype Analysis

    Science.gov (United States)

    Chatfield, Kathryn C.; Schrier, Samantha A.; Li, Jennifer; Clark, Dinah; Kaur, Maninder; Kline, Antonie D.; Deardorff, Matthew A.; Jackson, Laird S.; Goldmuntz, Elizabeth; Krantz, Ian D.

    2013-01-01

    Congenital heart disease (CHD) has been reported to occur in 14–70% of individuals with Cornelia de Lange syndrome (CdLS, OMIM 122470) and accounts for significant morbidity and mortality when present. Charts from a cohort of 479 patients with CdLS were reviewed for cardiac evaluations, gene testing and information to determine phenotypic severity. Two hundred fifty-nine individuals had either documented structural defects or minor cardiac findings. The presence of CHD was then quantified as a function of mutation status and severity of CdLS: mild, moderate, or severe. Different types of CHD were also evaluated by mutation status to assess for any genotype –phenotype correlation. NIPBL, SMC1A, and SMC3 mutation-positive patients were equally likely to have CHD, although the number of SMC1A and SMC3 mutation-positive patients were small in comparison. Structural CHDs were more likely to be present in individuals with moderate and severe CdLS than in the mild phenotype. This study evaluates the trends of CHD seen in the CdLS population and correlates these findings with genotype. PMID:22965847

  17. 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.

  18. Myocardial tissue Doppler velocities in fetuses with hypoplastic left heart syndrome

    Directory of Open Access Journals (Sweden)

    Himesh V Vyas

    2011-01-01

    Full Text Available Background : Tissue Doppler Imaging (TDI is a sensitive index of myocardial function. Its role in the fetus has not been extensively evaluated. Objective: To compare myocardial tissue Doppler velocities in fetuses with hypoplastic left heart syndrome (HLHS to those of normal fetuses (matched for gestational age. Methods: Cross-sectional retrospective study conducted at 2 large perinatal centers (2003-2007. Fetuses with HLHS ( n = 13 were compared with normal fetuses ( n = 207 in 5 gestational age groups. TDI data included peak systolic (s′, peak early (e′, and late diastolic velocities (a′. Linear regression was used to compare TDI parameters in fetuses with HLHS to normal fetuses matched for gestational age. Results: Fetuses with HLHS had significantly reduced lateral tricuspid annular e′ as compared to normal fetuses. Both normal fetuses and those with HLHS had linear increase in TDI velocities with advancing gestational age. Conclusions: TDI velocities are abnormal in fetuses with HLHS. TDI can be useful in serial follow-up of cardiac function in fetuses with HLHS.

  19. 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.

  20. Neonatal lupus syndrome: the heart as a target of the immune system

    Directory of Open Access Journals (Sweden)

    GARCIA SIMONE

    2000-01-01

    Full Text Available Neonatal lupus erythematosus (NLE is an auto-immune disease related to systemic lupus erythematosus (SLE. Unlike SLE it is not a spontaneous syndrome but rather an acquired one. In NLE the most common disease manifestations are a transient cutaneous lesion and cardiac conduction disturbances. The cutaneous lesions and other non-cardiac manifestations of NLE are transient and disappear about six months after birth, at the time when maternal antibodies disappear from the neonatal circulation. This fact suggests that maternal antibodies may cross the placenta leading to an inflamatory reaction in the fetal tissues. NLE is the principal cause of atria-ventricular block, when it is not associated with congenital birth defects. All the clinical studies to date correlate the heart block in NLE with the presence of certain types of circulating maternal antibodies, against the Ro/SSA nuclear proteins, in the serum of the newborn. In this paper we discuss animal models that have been developed by our and others groups to study the participation of the anti-Ro/SSA antibodies in the pathogenesis of the cardiac conduction blockades that occur in NLE.

  1. Pulmonary hypertension in adults with congenital heart disease and Eisenmenger syndrome: current advanced management strategies.

    Science.gov (United States)

    D'Alto, Michele; Diller, Gerhard-Paul

    2014-09-01

    The presence of pulmonary arterial hypertension (PAH) increases morbidity and reduces survival in patients with congenital heart disease (CHD). PAH-CHD is a heterogeneous condition, depending on the type of the underlying defect and previous repair strategies. There is growing evidence of the benefits of PAH-specific therapy in the PAH-CHD population, but despite recent advances mortality rates remain relatively high. In the last years, an increasing focus has been placed on patients with PAH-CHD and net left-to-right shunt. Currently, there are limited data to guide the management of these patients and uncertainty on the cut-off values for eventual defect closure. Pregnancy conveys significant risks in PAH-CHD patients: appropriate counselling and care, including psychological support and a multidisciplinary team, should be part of the routine management of women with PAH-CHD of reproductive age. Some subgroups, such as patients with Down's syndrome, Fontan circulation and 'segmental' pulmonary hypertension, present particular challenges in terms of management and therapy. The current review focuses on contemporary treatment strategies in PAH-CHD patients with particular emphasis on challenging patient groups and conditions.

  2. Excessive heart rate response to orthostatic stress in postural tachycardia syndrome is not caused by anxiety.

    Science.gov (United States)

    Masuki, Shizue; Eisenach, John H; Johnson, Christopher P; Dietz, Niki M; Benrud-Larson, Lisa M; Schrage, William G; Curry, Timothy B; Sandroni, Paola; Low, Phillip A; Joyner, Michael J

    2007-03-01

    Postural tachycardia syndrome (POTS) is characterized by excessive increases in heart rate (HR) without hypotension during orthostasis. The relationship between the tachycardia and anxiety is uncertain. Therefore, we tested whether the HR response to orthostatic stress in POTS is primarily related to psychological factors. POTS patients (n = 14) and healthy controls (n = 10) underwent graded venous pooling with lower body negative pressure (LBNP) to -40 mmHg while wearing deflated antishock trousers. "Sham" venous pooling was performed by 1) trouser inflation to 5 mmHg during LBNP and 2) vacuum pump activation without LBNP. HR responses to mental stress were also measured in both groups, and a questionnaire was used to measure psychological parameters. During LBNP, HR in POTS patients increased 39 +/- 5 beats/min vs. 19 +/- 3 beats/min in control subjects at -40 mmHg (P inflation markedly blunted the HR responses in the patients (9 +/- 2 beats/min) and controls (2 +/- 1 beats/min), and there was no HR increase during vacuum application without LBNP in either group. HR responses during mental stress were not different in the patients and controls (18 +/- 2 vs. 19 +/- 1 beats/min; P > 0.6). Anxiety, somatic vigilance, and catastrophic cognitions were significantly higher in the patients (P 0.1). These results suggest that the HR response to orthostatic stress in POTS patients is not caused by anxiety but that it is a physiological response that maintains arterial pressure during venous pooling.

  3. 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

    2016-01-01

    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 = 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. PMID:27220885

  4. Prevalence of congenital heart defects associated with Down syndrome in Korea.

    Science.gov (United States)

    Kim, Min-A; Lee, You Sun; Yee, Nan Hee; Choi, Jeong Soo; Choi, Jung Yun; Seo, Kyung

    2014-11-01

    Congenital heart defect (CHD) is common in infants with Down syndrome (DS), which is the principle cause of mortality. However, there is no data available for the frequency and types of CHD in infants with DS in Korea. We investigated the frequency of CHD in infants with DS in Korea. After the survey on birth defects was conducted throughout the country, the prevalence of CHD in DS in 2005-2006 was calculated. This study was conducted based on the medical insurance claims database of the National Health Insurance Corporation. The number of total births in Korea was 888,263 in 2005-2006; of them, 25,975 cases of birth defects were identified. The prevalence of DS was 4.4 per 10,000 total births, accounting for 1.5% of all birth defects. Of the 394 infants with DS, 224 (56.9%) had a CHD. Atrial septal defect was the most common defect accounting for 30.5% of DS followed by ventricular septal defect (19.3%), patent duct arteriosus (17.5%), and atrioventricular septal defect (9.4%). Our study will be helpful to demonstrate the current status of DS and to identify the distribution of CHD in infants with DS in Korea.

  5. 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

    2016-06-01

    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 = 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.

  6. 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.

  7. Heart rate variability during sleep and subsequent sleepiness in patients with chronic fatigue syndrome.

    Science.gov (United States)

    Togo, Fumiharu; Natelson, Benjamin H

    2013-06-01

    We determined whether alterations in heart rate dynamics during sleep in patients with chronic fatigue syndrome (CFS) differed from controls and/or correlated with changes of sleepiness before and after a night in the sleep laboratory. We compared beat-to-beat RR intervals (RRI) during nocturnal sleep, sleep structure, and subjective scores on visual analog scale for sleepiness in 18 CFS patients with 19 healthy controls aged 25-55 after excluding subjects with sleep disorders. A short-term fractal scaling exponent (α1) of RRI dynamics, analyzed by the detrended fluctuation analysis (DFA) method, was assessed after stratifying patients into those who reported more or less sleepiness after the night's sleep (a.m. sleepier or a.m. less sleepy, respectively). Patients in the a.m. sleepier group showed significantly (psleep (Stages 1, 2, and 3 sleep) than healthy controls, although standard polysomnographic measures did not differ between the groups. The fractal scaling index α1 during non-REM sleep was significantly (psleep onset for healthy controls and patients in the a.m. less sleepy group, but did not differ between sleep stages for patients in the a.m. sleepier group. For patients, changes in self-reported sleepiness before and after the night correlated positively with the fractal scaling index α1 during non-REM sleep (psleep might be associated with disrupted sleep in patients with CFS.

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

    Directory of Open Access Journals (Sweden)

    Juliet A Moncaster

    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

  9. The interlinked depression, erectile dysfunction, and coronary heart disease syndrome in older men: a triad often underdiagnosed.

    Science.gov (United States)

    Tan, Robert S; Pu, Shou-Jin

    2003-01-01

    The prevalence of depression, erectile dysfunction (ED), and coronary heart disease (CHD) increases with age, and the symptoms related to these three illnesses are closely interlinked. The term "DEC syndrome" is introduced to refer to this triad of comorbid conditions. When a patient presents with one component of the DEC syndrome, physicians should also screen for the other two components. Studies have shown that depression may predispose an individual to an increased risk of developing CHD, and older men with CHD are more likely to be depressed. Likewise, patients with ED are more likely to be clinically depressed, and patients with clinical depression often have ED. Furthermore, patients presenting with ED are often hypertensive, and thus have a significantly higher prevalence of cardiovascular complications. Multifactorial problems require multifactorial approaches, and the care of older men can improve if physicians are aware of this interlinked syndrome.

  10. Side effects of using nitrates to treat heart failure and the acute coronary syndromes, unstable angina and acute myocardial infarction.

    Science.gov (United States)

    Thadani, Udho; Ripley, Toni L

    2007-07-01

    Nitrates are potent venous dilators and anti-ischemic agents. They are widely used for the relief of chest pain and pulmonary congestion in patients with acute coronary syndromes and heart failure. Nitrates, however, do not reduce mortality in patients with acute coronary syndromes. Combination of nitrates and hydralazine when given in addition to beta-blockers and angiotensin-converting enzyme (ACE) inhibitors reduce mortality and heart failure hospitalizations in patients with heart failure due to left ventricular systolic dysfunction who are of African-American origin. Side effects during nitrate therapy are common but are less well described in the literature compared with the reported side effects in patients with stable angina pectoris. The reported incidence of side effects varies highly among different studies and among various disease states. Headache is the most commonly reported side effect with an incidence of 12% in acute heart failure, 41-73% in chronic heart failure, 3-19% in unstable angina and 2-26% in acute myocardial infarction. The reported incidence of hypotension also differs: 5-10% in acute heart failure, 20% in chronic heart failure, 9% in unstable angina and < 1-48% in acute myocardial infarction, with the incidence being much higher with concomitant nitrate therapy plus angiotensin-converting enzyme inhibitors. Reported incidence of dizziness is as low as 1% in patients with acute myocardial infarction to as high as 29% in patients with heart failure. Severe headaches and/or symptomatic hypotension may necessitate discontinuation of nitrate therapy. Severe life threatening hypotension or even death may occur when nitrates are used in patients with acute inferior myocardial infarction associated with right ventricular dysfunction or infarction, or with concomitant use of phosphodiesterase-5 inhibitors or N-acetylcysteine. Despite the disturbing observational reports in the literature that continuous and prolonged use of nitrates may lead to

  11. 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

  12. G protein-gated IKACh channels as therapeutic targets for treatment of sick sinus syndrome and heart block.

    Science.gov (United States)

    Mesirca, Pietro; Bidaud, Isabelle; Briec, François; Evain, Stéphane; Torrente, Angelo G; Le Quang, Khai; Leoni, Anne-Laure; Baudot, Matthias; Marger, Laurine; Chung You Chong, Antony; Nargeot, Joël; Striessnig, Joerg; Wickman, Kevin; Charpentier, Flavien; Mangoni, Matteo E

    2016-02-16

    Dysfunction of pacemaker activity in the sinoatrial node (SAN) underlies "sick sinus" syndrome (SSS), a common clinical condition characterized by abnormally low heart rate (bradycardia). If untreated, SSS carries potentially life-threatening symptoms, such as syncope and end-stage organ hypoperfusion. The only currently available therapy for SSS consists of electronic pacemaker implantation. Mice lacking L-type Cav1.3 Ca(2+) channels (Cav1.3(-/-)) recapitulate several symptoms of SSS in humans, including bradycardia and atrioventricular (AV) dysfunction (heart block). Here, we tested whether genetic ablation or pharmacological inhibition of the muscarinic-gated K(+) channel (IKACh) could rescue SSS and heart block in Cav1.3(-/-) mice. We found that genetic inactivation of IKACh abolished SSS symptoms in Cav1.3(-/-) mice without reducing the relative degree of heart rate regulation. Rescuing of SAN and AV dysfunction could be obtained also by pharmacological inhibition of IKACh either in Cav1.3(-/-) mice or following selective inhibition of Cav1.3-mediated L-type Ca(2+) (ICa,L) current in vivo. Ablation of IKACh prevented dysfunction of SAN pacemaker activity by allowing net inward current to flow during the diastolic depolarization phase under cholinergic activation. Our data suggest that patients affected by SSS and heart block may benefit from IKACh suppression achieved by gene therapy or selective pharmacological inhibition.

  13. Heart failure and dysrhythmias after maternal placental syndromes: HAD MPS Study.

    Science.gov (United States)

    Ray, Joel G; Schull, Michael J; Kingdom, John C; Vermeulen, Marian J

    2012-08-01

    Maternal placental syndromes (MPS)-gestational hypertension, pre-eclampsia and placental abruption/infarction-are more prevalent in women with features of the metabolic syndrome (MetSyn). Both MPS and the MetSyn predispose to left ventricular impairment and sympathetic dominance after delivery. Whether this translates into a higher risk of heart failure (HF) and cardiac dysrhythmias is not known. To determine the risk of new onset of HF and dysrhythmias among women after a prior MPS-affected pregnancy. A retrospective cohort study was carried out of 1,130,764 individual women with a delivery in Ontario between 1992 and 2009, excluding those with cardiac or thyroid disease 1 year before delivery. The risk of a composite outcome of a hospitalisation for HF or an atrial or ventricular dysrhythmia was compared in women with and without MPS, starting 1 year after delivery. 75,242 individuals (6.7%) experienced a MPS. After a median duration of 7.8 years, the composite outcome occurred in 148 women with MPS (2.54 per 10,000 person-years) and 1062 women without MPS (1.28 per 10,000 person-years) (crude HR=2.00, 95% CI 1.68 to 2.38). The mean age at composite outcome was 37.8 years. The HR was 1.61 (95% CI 1.35 to 1.91) after adjustment for demographic characteristics, diabetes, obesity, dyslipidaemia and drug dependence or tobacco use, as well as coronary artery disease or thyroid disease >1 year after delivery. The adjusted HRs were minimally reduced by further adjusting for chronic hypertension (1.51, 95% CI 1.26 to 1.80) and were higher in women with MPS plus preterm delivery and poor fetal growth (2.42, 95% CI 1.25 to 4.67). Women with MPS are at higher risk of premature HF and dysrhythmias, especially when perinatal morbidity is present.

  14. Inter-relations between osteoarthritis and metabolic syndrome: A common link?

    Science.gov (United States)

    Le Clanche, S; Bonnefont-Rousselot, D; Sari-Ali, E; Rannou, F; Borderie, D

    2016-02-01

    Osteoarthritis (OA) is a degenerative disorder of the joint, principally occurring during aging, and characterized by a focal degradation of cartilage. It is the most prevalent rheumatic disease in industrialized countries and represents the second cause of disability in France. However, the etiology of OA remains unclear. There is only one cell type found in cartilage, chondrocyte, which is responsible for its repair and the synthesis of the elements of the extra-cellular matrix. A dysfunction of these cells results in an imbalance between repair and degradation in cartilage, leading to its destruction. Recently, a link between OA and metabolic syndrome (MetS) has been suggested, introducing a notion of metabolic OA, and a new vision of the disease. MetS is characterized by a cluster of factors (insulin resistance, hypertension, dyslipidemia, visceral obesity), although there is still no clear definition of it. During the 20th century, MetS dramatically increased with changes in population lifestyle, becoming a major health issue in industrialized countries. MetS concerns 10-30% of the worldwide population, but is prevalent in 59% of OA patients. Patients with both OA and MetS have more severe symptoms, occurring sooner than in the general population. Indeed, OA is generally a disease concerning the population over 65 years old, but with an associated MetS the target population is around 50 years old. In this review, we will focus on common factors in OA and MetS, such as hypertension, obesity, dyslipidemia, mitochondrial dysfunction and hyperglycemia, linking one disease to the other. Copyright © 2015 Elsevier B.V. and Société Française de Biochimie et Biologie Moléculaire (SFBBM). All rights reserved.

  15. Neuronal activation by mucosal biopsy supernatants from irritable bowel syndrome patients is linked to visceral sensitivity.

    Science.gov (United States)

    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

    2014-10-01

    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 visceral sensitivity is linked to the degree of neuronal activation. Normo- and hypersensitive IBS patients were distinguished by their discomfort/pain threshold to rectal balloon distension with a barostat. Using potentiometric and Ca(2+) dye imaging, we recorded the response of guinea-pig enteric submucous and mouse dorsal root ganglion (DRG) neurons, respectively, to mucosal biopsy supernatants from normosensitive (n = 12 tested in enteric neurons, n = 9 tested in DRG) and hypersensitive IBS patients (n = 9, tested in both types of neurons). In addition, we analysed the association between neuronal activation and individual discomfort/pain pressure thresholds. The IBS supernatants evoked Ca(2+) transients in DRG neurons and spike discharge in submucous neurons. Submucous and DRG neurons showed significantly stronger responses to supernatants from hypersensitive IBS patients as reflected by higher spike frequency or stronger [Ca(2+)]i transients in a larger proportion of neurons. The neuroindex as a product of spike frequency or [Ca(2+)]i transients and proportion of responding neurons correlated significantly with the individual discomfort/pain thresholds of the IBS patients. Supernatants from hypersensitive IBS patients caused stronger activation of enteric and DRG neurons. The level of activation correlated with the individual discomfort/pain threshold pressure values. These findings support our hypothesis that visceral sensitivity is linked to activation of peripheral neurons by biopsy supernatants.

  16. sTNF-R Levels: Apical Periodontitis Linked to Coronary Heart Disease

    Science.gov (United States)

    Singhal, Rajnish K.; Rai, Balwant

    2017-01-01

    BACKGROUND: Different studies have implicated the exposure to systemic conditions in the aetiology of cardiovascular diseases like chronic inflammation including chronic periodontitis. AIM: The present study has been conducted to examine whether biomarker sTNF-R was elevated in apical periodontitis as sTNF-R is a systemic marker of inflammation and has been identified as risk factors for cardiovascular diseases. MATERIAL AND METHODS: sTNF-R levels were measured in 52 patients with apical periodontitis (M:F::25:27), aged 20-45 years and in 20 control patients without periodontitis (M:F::10:10, aged 20-48 years). Measurement of sTNF-R1 and sTNF-R2 was carried out in duplicate with standardised, commercially available enzyme immunoassays (R&D Systems Europe, Abingdon, UK). RESULTS: The mean sTNF-R1 and sTNF-R2 levels in periodontitis were 820 (240) pg/ml (413 – 1620 pg/ml) and 1309 (403) pg/ml (540 – 2430 pg/ml), while in normal sTNF-R1 and sTNF – R2 levels were 740 (340) pg/ml (407-1240 pg/ml) and 1283 (414) pg (480 – 2340 pg/ml) respectively. Results indicated a positive high relationship between cardiovascular markers such as sTNF-R1 and sTNF – R2 and apical periodontitis. CONCLUSION: Elevated levels of sTNF-R1 and sTNF – R2 in apical periodontitis patients indicate an increased independent risk of coronary heart disease. PMID:28293320

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

    Directory of Open Access Journals (Sweden)

    Malathi

    2015-03-01

    Full Text Available 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 Variability (HRV parameters and metabolic risk with serum lipid parameters among ideal and lean weight PCOS patients. Settings and Design: case control study. 24 classical PCOS diagnosed by Rotterdam 2003 Diagnostic criteria and were ideal and lean as per WHO criter ia and 24 BMI matched, age matched normally menstruating women served as study participants. Methods and Material: 5 min of Electrocar - diogram (ECG was taken which was evaluated for HRV. Power spectral analysis was done to calculate the time and frequency domain measures of HRV. Fasting serum lipid profile was done. Statistical analysis: Independent sample‘t’ test was used. RESULTS: The results of the present study showed that cardiac autonomic innervations can be affected in lean and ideal weight PCOS wit h increased sympathetic and decreased parasympathetic components of HRV. As a result, sympathetic to parasympathetic ratio may increase in PCOS. Fasting blood sugar was also increased. Of the lipid parameters total cholesterol and LDL - C was increased. Othe r parameters were not altered. CONCLUSION: This study gives a solid and strong evidence of altered cardiac autonomic activity and unfavorable metabolic profile, which are the important risk factors for cardiovascular disease even in lean and ideal weight P COS. Our data suggest that all PCOS patients should undergo periodic screening for normal cardiac activity and lipid profiles irrespective of obesity.

  18. Reliability of heart period and systolic arterial pressure variabilities in women with fibromyalgia syndrome.

    Science.gov (United States)

    Andrade, Carolina Pieroni; Zamunér, Antonio Roberto; Forti, Meire; de França, Thalita Fonseca; da Silva, Ester

    2016-09-01

    The aim of this study is to define absolute and relative reliability of spectral indices of cardiovascular autonomic control in the supine position in women with fibromyalgia syndrome (FMS). Twenty-three women with FMS (age 48 ± 7 years) took part in the study. ECG, finger blood pressure, and respiration were continuously recorded in all participants at rest in baseline 1 (BL1) and after 15 days from BL1 (BL2). The power spectrum analysis provided two oscillatory components: low frequency (LF, 0.04-0.15 Hz) and high frequency (HF, 0.15-0.4 Hz) from the heart period (HP) variability and the LF oscillatory component from SAP variability (LFSAP). Absolute and relative reliability were rated by 95 % of the limit of random variation and intraclass correlation coefficient (ICC), respectively. No significant differences were observed between BL1 and BL2 for the spectral indices of HP and SAP variabilities. The 95 % limit of the random variation of these indices indicated that the values of repeated measurements were between 22 % higher and 0.2 % lower (more reliable parameter; average of HP variability) and 912.9 % higher and 0.2 % lower (less reliable parameter; LFSAP) than BL1. Conversely, the index of relative reliability (ICC) ranged from 0.23 to 0.70 indicating a good reliability. The spectral indices of cardiovascular autonomic control in women with FMS seem to present good relative reliability. Therefore, these indices can be useful as parameters to quantify if a variation was consistent and accurate in the retest besides adding crucial information for clinical research and clinical evaluation of FMS patients.

  19. Heart rate complexity in response to upright tilt in persons with Down syndrome.

    Science.gov (United States)

    Agiovlasitis, Stamatis; Baynard, Tracy; Pitetti, Kenneth H; Fernhall, Bo

    2011-01-01

    People with Down syndrome (DS) show altered autonomic response to sympatho-excitation. Cardiac autonomic modulation may be examined with heart rate (HR) complexity which is associated uniquely with cardiovascular risk. This study examined whether the response of HR complexity to passive upright tilt differs between persons with and without DS and whether potential between-group differences in this response are accounted for by differences in body mass index (BMI). The electrocardiogram of 16 persons with DS (8 women, 8 men) and 16 persons without DS (8 women, 8 men) was recorded during 10 min of supine rest and 10 min of upright tilt. For each participant, 550 continuous, steady state, and ectopy-free R-R intervals under each condition were analyzed. Dependent variables were approximate entropy, correlation dimension, StatAv, and the mean R-R interval. In response to tilt, changes in approximate entropy and correlation dimension were reduced in participants with DS (p<0.05). These differences were explained by higher BMI in participants with DS. StatAv increased in persons with DS (p < 0.05) and stayed the same in those without DS even when controlling for BMI. The response of R-R interval did not differ between groups. None of the variables differed between groups at rest. Therefore, people with DS show smaller decrease in HR complexity in response to upright tilt than people without DS partially due to their higher BMI. Resting HR complexity does not differ between persons with and without DS. These results may have implications for cardiovascular risk in people with DS.

  20. CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome

    Directory of Open Access Journals (Sweden)

    Barbara eBardoni

    2014-03-01

    Full Text Available Intellectual disability (ID and autism spectrum disorders (ADS have in common alterations in some brain circuits and brain abnormalities, such as synaptic transmission and dendritic spines morphology. Recent studies have indicated a differential expression for specific categories of genes as a cause for both types of disease, while an increasing number of genes is recognized to produce both disorders. An example is the Fragile X Mental retardation gene, FMR1, whose silencing causes the Fragile X syndrome, the most common form of intellectual disability and autism, also characterized by physical hallmarks. FMRP, the protein encoded by FMR1, is an RNA-binding protein with an important role in translational control. Among the interactors of FMRP, CYFIP1/2 proteins are good candidates for intellectual disability and autism, on the bases of their genetic implication and functional properties, even if the precise functional significance of the CYFIP/FMRP interaction is not understood yet. CYFIP1 and CYFIP2 represent a link between Rac1, the Wave complex and FMRP, favoring the cross talk between actin polymerization and translational control

  1. Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.

    Science.gov (United States)

    Bartsch, Oliver; Gebauer, Konstanze; Lechno, Stanislav; van Esch, Hilde; Froyen, Guy; Bonin, Michael; Seidel, Jörg; Thamm-Mücke, Barbara; Horn, Denise; Klopocki, Eva; Hertzberg, Christoph; Zechner, Ulrich; Haaf, Thomas

    2010-02-01

    The Lubs X-linked mental retardation syndrome (MRXSL) is caused by small interstitial duplications at distal Xq28 including the MECP2 gene. Here we report on four novel male patients with MRXSL and different Xq28 duplications delineated by microarray-based chromosome analysis. All mothers were healthy carriers of the duplications. Consistent with an earlier report [Bauters et al. (2008); Genome Res 18: 847-858], the distal breakpoints of all four Xq28 duplications were located in regions containing low-copy repeats (LCRs; J, K, and L groups), which may facilitate chromosome breakage and reunion events. The proximal breakpoint regions did not contain known LCRs. Interestingly, we identified apparent recurrent breakage sites in the proximal and distal breakpoint regions. Two of the four patients displayed more complex rearrangements. Patient 2 was endowed with a quadruplicated segment and a small triplication within the duplication, whereas patient 3 displayed two triplicated segments within the duplication, supporting that the Fork Stalling and Template Switching (FoSTeS) model may explain a subset of the structural rearrangements in Xq28. Clinically, muscular hypertonia and contractures of large joints may present a major problem in children with MRXSL. Because injection of botulinum toxin (BT-A; Botox) proved to be extremely helpful for patient 1, we recommend consideration of Botox treatment in other patients with MRXSL and severe joint contractures.

  2. 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......) and TUNEL, and moderate levels of caspase 3 immuno-reactivity suggested a high cell turnover where DNA damage/repair might be occurring in the diseased hearts. Interestingly, the apparently similar cardiac diseases exhibited differences in the immunopathological responses in Atlantic salmon....

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. Insulin resistance as a key link for the increased risk of cognitive impairment in the metabolic syndrome

    OpenAIRE

    Kim, Bhumsoo; Feldman, Eva L.

    2015-01-01

    Metabolic syndrome (MetS) is a cluster of cardiovascular risk factors that includes obesity, diabetes, and dyslipidemia. Accumulating evidence implies that MetS contributes to the development and progression of Alzheimer's disease (AD); however, the factors connecting this association have not been determined. Insulin resistance (IR) is at the core of MetS and likely represent the key link between MetS and AD. In the central nervous system, insulin plays key roles in learning and memory, and ...

  8. 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.

  9. Respiratory Collapse of the Inferior Vena Cava Reflects Volume Shift and Subsequent Fluid Refill in Acute Heart Failure Syndrome.

    Science.gov (United States)

    Asahi, Tomohiro; Nakata, Marohito; Higa, Namio; Manita, Mamoru; Tabata, Kazuhiko; Shimabukuro, Michio

    2016-04-25

    Fluid redistribution rather than fluid accumulation plays an important role in the development of acute heart failure (HF) syndrome. Patients with fluid redistribution develop acute HF without prominent volume overload. We investigated volume status by measuring the diameter of the inferior vena cava (IVC) and examining variations in hemoglobin and hematocrit. Seventy-four consecutive patients admitted for acute HF syndrome were analyzed. Blood tests and measurement of IVC diameter after stabilization of respiratory distress were performed on admission and were repeated after 24 h. IVC collapsibility index (IVC-CI) was calculated as (maximum IVC-minimum IVC)/maximum IVC. According to the initial IVC-CI, the patients were divided into the collapse group (IVC-CI ≥0.5: n=34) and the non-collapse group (IVC-CI Fluid refill occurs within 24 h after admission. This observation could be helpful in selecting strategies for diuretic use. (Circ J 2016; 80: 1171-1177).

  10. 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......: An MS index was defined from the seven components: waist-hip ratio, high-density lipoprotein (HDL)-cholesterol, triglycerides, systolic blood pressure (SBP), blood glucose, C-reactive protein (CRP) and fibrinogen. Social status was measured by educational level. Psychosocial factors included fatigue...

  11. Use of the soluble form of AXL in the diagnosis and/or prognosis of heart failure syndrome

    OpenAIRE

    Battle Perales, Montserrat; García de Frutos, Pablo

    2012-01-01

    [EN] The present invention refers to a method for diagnosing and/or prognosing a heart failure syndrome (HF), which comprises the step of measuring, in vitro, the amount of the soluble form of AXL (sAXL) in a test sample. The invention furthermore provides methods for deciding or recommending whether to initiate a medical regimen, as well as for determining the efficacy of said medical regimen. The invention also provides the use of sAXL as a marker for the diagnosis and/or prognosis of HF sA...

  12. Technical Description of the Use of Selective Perfusion Techniques During the Norwood Procedure for Hypoplastic Left Heart Syndrome

    Science.gov (United States)

    Chabot, David Leonard; Polimenakos, Anastasios C.

    2011-01-01

    Abstract: Since the introduction of the Norwood procedure for surgical palliation of hypoplastic left heart syndrome in 1983, refinements have been made to the original procedure to improve patient outcomes while still accomplishing the original goals of the procedure. One of these refinements has been the introduction of regional selective perfusion to limit the duration of circulatory arrest times and optimize the regional flow distribution. In this paper we describe our technique for performing selective cerebral and lower body perfusion during the Norwood procedure. PMID:22416608

  13. Feasibility for the enhancement of an online support system for persons with metabolic syndrome, aimed at applications for ischemic heart disease and heart failure.

    Science.gov (United States)

    Tani, Shoko; Narazaki, Hiroshi; Iwata, Michiaki; Haraguchi, Ryo; Kuwata, Shigeki; Inada, Hiroshi; Nakazawa, Kazuo

    2013-01-01

    Previously, we developed of an online support system for persons with metabolic syndrome. In this study, we investigated the possibility of enhancing our system for applications in ischemic heart disease (IHD) and heart failure (HF). The main causes of IHD are obesity, hypertension, arteriosclerosis, hyperglycemia and other metabolic disorders. These conditions are related to lifestyle issues, such as diet and exercise. Dietary management becomes more difficult as the patient's condition worsens. We primarily focused on behavior changes. To raise the user's awareness of food intake, we improved a number of functions of the developed system: an entry of the user's lifestyle information, a calculation of the total calorie intake and a reference of food model pictures in 80 kcal standard quantities. IHD encompasses many of the causes of HF. Management tools appropriate for HF are few. We describe the main functions of our system and promote self-management as a requirement for IHD and HF. We expect that the framework of our system is applicable to the management of patients with chronic HF.

  14. Characteristics of the redox-linked proton ejection in beef-heart cytochrome c oxidase reconstituted in liposomes.

    Science.gov (United States)

    Papa, S; Capitanio, N; De Nitto, E

    1987-05-04

    In this paper a study is presented of the characteristics of redox-linked proton ejection exhibited by isolated beef-heart cytochrome c oxidase incorporated in asolectin vesicles. The enzyme was 90% oriented 'right-side out' as in the mitochondrial membrane. The effects on the H+/e- stoichiometry of the modalities of activation of electron flow, the pH of the medium and its ionic composition were investigated. The results obtained show that, whilst ferrocytochrome c pulses of the aerobic oxidase vesicles at neutral pH and in the presence of saturating concentrations of valinomycin and K+ to ensure charge compensation produced H+/e- ratios around 1 (as has been shown previously), oxygen pulses of reduced anaerobic vesicles supplemented with cytochrome c, gave H+/e- ratios around 0.3. The H+/e- ratios exhibited, with both reductant and oxidant pulses, a marked pH dependence. Maximum values were observed at pH 7.0-7.7, which decreased to negligible values at acidic pH with apparent pKa of 6.7-6.3. Mg2+ and Ca2+ caused a marked depression of the H+/e- ratio, which in the presence of these cations and after a few ferrocytochrome pulses, became negligible. Analysis of cytochrome c oxidation showed that the modalities of activation of electron flow and divalent cations exerted profound effects on the kinetics of cytochrome c oxidation by oxidase vesicles. The observations presented seem to provide interesting clues for the nature and mechanism of redox-linked proton ejection in reconstituted cytochrome c oxidase.

  15. 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

  16. Exploring the possible link between MeCP2 and oxidative stress in Rett syndrome.

    Science.gov (United States)

    Filosa, Stefania; Pecorelli, Alessandra; D'Esposito, Maurizio; Valacchi, Giuseppe; Hajek, Joussef

    2015-11-01

    Rett syndrome (RTT, MIM 312750) is a rare and orphan progressive neurodevelopmental disorder affecting girls almost exclusively, with a frequency of 1/15,000 live births of girls. The disease is characterized by a period of 6 to 18 months of apparently normal neurodevelopment, followed by early neurological regression, with a progressive loss of acquired cognitive, social, and motor skills. RTT is known to be caused in 95% of the cases by sporadic de novo loss-of-function mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene encoding methyl-CpG binding protein 2 (MeCP2), a nuclear protein able to regulate gene expression. Despite almost two decades of research into the functions and role of MeCP2, little is known about the mechanisms leading from MECP2 mutation to the disease. Oxidative stress (OS) is involved in the pathogenic mechanisms of several neurodevelopmental and neurodegenerative disorders, although in many cases it is not clear whether OS is a cause or a consequence of the pathology. Fairly recently, the presence of a systemic OS has been demonstrated in RTT patients with a strong correlation with the patients' clinical status. The link between MECP2 mutation and the redox imbalance found in RTT is not clear. Animal studies have suggested a possible direct correlation between Mecp2 mutation and increased OS levels. In addition, the restoration of Mecp2 function in astrocytes significantly improves the developmental outcome of Mecp2-null mice and reexpression of Mecp2 gene in the brain of null mice restored oxidative damage, suggesting that Mecp2 loss of function can be involved in oxidative brain damage. Starting from the evidence that oxidative damage in the brain of Mecp2-null mice precedes the onset of symptoms, we evaluated whether, based on the current literature, the dysfunctions described in RTT could be a consequence or, in contrast, could be caused by OS. We also analyzed whether therapies that at least partially treated some RTT

  17. The role of collagen cross-links in biomechanical behavior of human aortic heart valve leaflets - Relevance for tissue engineering

    NARCIS (Netherlands)

    Balguid, A.; Rubbens, M.P.; Mol, A.; Bank, R.A.; Bogers, A.J.J.C.; Kats, J.P. van; Mol, B.A.J.M. de; Baaijens, F.P.T.; Bouten, C.V.C.

    2007-01-01

    A major challenge in tissue engineering of functional heart valves is to determine and mimic the dominant tissue structures that regulate heart valve function and in vivo survival. In native heart valves, the anisotropic matrix architecture assures sustained and adequate functioning under

  18. Relationship between coronary artery calcification and osteopenic syndrome in men with coronary heart disease

    Directory of Open Access Journals (Sweden)

    T. A. Raskina

    2016-01-01

    Full Text Available Objective: to investigate the relationship between coronary artery calcification (CAC and osteopenic syndrome in men with coronary heart disease (CHD.Subjects and methods. A total of 102 men aged 51 to 75 years (mean age 61 (55; 65 years with verified CHD were examined. Bone mineral density (BMD and its T-score of LI–IV and femoral neck were determined by dual-energy X-ray absorptiometry. According to the T-score, the men were divided into 3 groups: 1 33 (32.4% patients with osteoporosis (OP (T-score <-2.5; 2 48 (47.0% patients with osteopenia (OSP (T-score -1 to -2.5 and 3 21 (20.6% examinees with normal BMD (NBMD (T-score ≥-1. In all the patients, CAC was quantified by multislice spiral computed tomography. The investigators calculated CA calcium scores by the Agatston method and rated the extent of calcification: none (0, minimal (1–10, mild (11–100, moderate (101–400, or severe (>400.Results and discussion. Severe CAC was detected in 57.8% of the men; moderate CAC was in 25.5%; mild CAC was in 6.9; minimal CAC was in 2.0%; and none CAC was in 7.8%. In the OP group, the majority (69.7% of the patients had severe CAC; 15.1% had moderate CAC, 6.1% had mild CAC; 3.0% had minimal CAC; CAC was undetected in 6.1% of cases. In the OSP group, there was severe CAC in 60.4%, moderate CAC in 33.3%, mild CAC in 4.2%, and minimal CAC in 2.1%. The patients without CAC were absent in this group. In the NBMD group, 33.3% of the examinees were recorded to have severe CAC; 23.8% had moderate CAC; 14.3% had mild CAC; CAC was undetected in 28.6%. Minimal CAC was also undetected in the patients of this group. There was a preponderance of patients with severe CAC in all the groups of those identified by the T-score. The extent of CAC was significantly lower in the NBMD group than in the OSP group (p<0.05. CAC was significantly more frequently absent in the NBMD group than in the low BMD group (p<0.05. There was an inverse correlation between

  19. Endogenous RGS proteins modulate SA and AV nodal functions in isolated heart: implications for sick sinus syndrome and AV block.

    Science.gov (United States)

    Fu, Ying; Huang, Xinyan; Piao, Lin; Lopatin, Anatoli N; Neubig, Richard R

    2007-05-01

    G protein-coupled receptors play a pivotal role in regulating cardiac automaticity. Their function is controlled by regulator of G protein signaling (RGS) proteins acting as GTPase-activating proteins for Galpha subunits to suppress Galpha(i) and Galpha(q) signaling. Using knock-in mice in which Galpha(i2)-RGS binding and negative regulation are disrupted by a genomic Galpha(i2)G184S (GS) point mutation, we recently (Fu Y, Huang X, Zhong H, Mortensen RM, D'Alecy LG, Neubig RR. Circ Res 98: 659-666, 2006) showed that endogenous RGS proteins suppress muscarinic receptor-mediated bradycardia. To determine whether this was due to direct regulation of cardiac pacemakers or to alterations in the central nervous system or vascular responses, we examined isolated, perfused hearts. Isoproterenol-stimulated beating rates of heterozygote (+/GS) and homozygote (GS/GS) hearts were significantly more sensitive to inhibition by carbachol than were those of wild type (+/+). Even greater effects were seen in the absence of isoproterenol; the potency of muscarinic-mediated bradycardia was enhanced fivefold in GS/GS and twofold in +/GS hearts compared with +/+. A(1)-adenosine receptor-mediated bradycardia was unaffected. In addition to effects on the sinoatrial node, +/GS and GS/GS hearts show significantly increased carbachol-induced third-degree atrioventricular (AV) block. Atrial pacing studies demonstrated an increased PR interval and AV effective refractory period in GS/GS hearts compared with +/+. Thus loss of the inhibitory action of endogenous RGS proteins on Galpha(i2) potentiates muscarinic inhibition of cardiac automaticity and conduction. The severe carbachol-induced sinus bradycardia in Galpha(i2)G184S mice suggests a possible role for alterations of Galpha(i2) or RGS proteins in sick sinus syndrome and pathological AV block.

  20. 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.

  1. 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; Goot, Annemieke van der; Dolga, Amalia; Graaff, Esther de; 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

  2. Heart Failure with Multi-organ Thrombosis: A Case of Antiphospholipid Syndrome Co-existing with Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Xueqi Li and Shipeng Wei

    2012-09-01

    Full Text Available Antiphospholipid Syndrome (APS is an autoimmune disease featured by venous or arterial thrombosis, fetal losses and thrombocytopenia in the presence of antiphospholipid antibodies. Here we reported one case of antiphospholipid syndrome together with dilated cardiomyopathy. A 46-year-old female patient complaining short of breath was found enlargement of atrial and ventricular compartments. The ecletrocardiogram and blood test revealed anteroseptal myocardial infarction, while no pulmonary thrombosis was present and therefore diagnosis of dilated cardiomyopathy was made. There were also thrombi formed in the cardial chambers and deep venous. During hospitalization, there was an onset of ischemic brain stroke and head MRI showed newly developed small infarctions. An elevation of anticardiolipin immunoglobulin A (ACAIGA was detected from the blood sample. The patient was discharged after being treated with anticoagulant, corticosteroid and other medicines for improving heart function. In our case, APS is the basic cause leading to multi-organ thrombosis and heart failure is mainly due to dilated cardiomyopathy, thus independent of APS. So this is the first time that cardiomyopathy co-existing with APS was reported.

  3. Engineered chromosome-based genetic mapping establishes a 3.7-Mb critical genomic region for Down syndrome-associated heart defects in mice

    OpenAIRE

    Liu, Chunhong; Morishima, Masae; Jiang,Xiaoling; Yu, Tao; Meng, Kai; Ray, Debjit; Pao, Annie; Ye, Ping; Parmacek, Michael S.; Yu, Y. Eugene

    2013-01-01

    Trisomy 21 (Down syndrome, DS) is the most common human genetic anomaly associated with heart defects. Based on evolutionary conservation, DS-associated heart defects have been modeled in mice. By generating and analyzing mouse mutants carrying different genomic rearrangements in human chromosome 21 (Hsa21) syntenic regions, we found the triplication of the Tiam1-Kcnj6 region on mouse chromosome 16 (Mmu16) resulted in DS-related cardiovascular abnormalities. In this study, we developed two ta...

  4. Complex Networks Approach for Analyzing the Correlation of Traditional Chinese Medicine Syndrome Evolvement and Cardiovascular Events in Patients with Stable Coronary Heart Disease

    Directory of Open Access Journals (Sweden)

    Zhuye Gao

    2015-01-01

    Full Text Available This is a multicenter prospective cohort study to analyze the correlation of traditional Chinese medicine (TCM syndrome evolvement and cardiovascular events in patients with stable coronary heart disease (CHD. The impact of syndrome evolvement on cardiovascular events during the 6-month and 12-month follow-up was analyzed using complex networks approach. Results of verification using Chi-square test showed that the occurrence of cardiovascular events was positively correlated with syndrome evolvement when it evolved from toxic syndrome to Qi deficiency, blood stasis, or sustained toxic syndrome, when it evolved from Qi deficiency to blood stasis, toxic syndrome, or sustained Qi deficiency, and when it evolved from blood stasis to Qi deficiency. Blood stasis, Qi deficiency, and toxic syndrome are important syndrome factors for stable CHD. There are positive correlations between cardiovascular events and syndrome evolution from toxic syndrome to Qi deficiency or blood stasis, from Qi deficiency to blood stasis, or toxic syndrome and from blood stasis to Qi deficiency. These results indicate that stable CHD patients with pathogenesis of toxin consuming Qi, toxin leading to blood stasis, and mutual transformation of Qi deficiency and blood stasis are prone to recurrent cardiovascular events.

  5. 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.

  6. 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.

  7. End-stage ischemic heart failure and Williams-Beuren syndrome: A unique scenario for pediatric heart transplantation.

    Science.gov (United States)

    González-López, María-Teresa; Pérez-Caballero-Martínez, Ramón; Granados-Ruiz, Miguel-Ángel; García-Torres, Enrique; Álvarez-García-Rovés, Reyes; Gil-Villanueva, Nuria; Camino-López, Manuela; Gil-Jaurena, Juan-Miguel

    2016-05-01

    WBS is a rare disorder caused by mutations in the chromosomal sub-band 7q11.23 involving the elastin gene. The clinical features (craniofacial, developmental, and cardiovascular abnormalities) are variable. The association with cardiac anomalies is a well-recognized feature, and SVAS is the most common cardiac defect found. End-stage ischemic heart disease is unusual in this setting but when it occurs, OHT remains the final therapeutic option. This decision can be difficult to determine, and it must be tailored to the individual patient based on the clinical status and concomitant cardiovascular and multisystem lesions. To date, no cases of OHT in patients with WBS have been described. We present a 14-month-old patient with WBS who developed severe LV dysfunction secondary to ischemia following a complex staged surgery for SVAS repair. He underwent successful OHT with no post-operative complications, and at three-month follow-up, he remains asymptomatic on standard immunosuppressive therapy. This case constitutes the first demonstration that OHT may be indicated for extended survival in selected children with WBS and we discuss the basic principles for extending the indication for OHT to this scenario as well as the particularities for post-transplant care.

  8. Klinefelter syndrome with fabry disease--a case of nondisjunction of the X-chromosome with sex-linked recessive mutation.

    Science.gov (United States)

    Sadick, Victoria J; Fietz, Michael J; Tchan, Michel C; Kovoor, Pramesh; Thomas, Liza; Sadick, Norman

    2014-12-01

    A 52 year-old male with Klinefelter syndrome presented with chest tightness and rapid atrial fibrillation with hypotension. His echocardiogram demonstrated symmetrical left ventricular hypertrophy with minimal diastolic dysfunction. Subsequent investigations confirmed the diagnosis of Fabry cardiomyopathy. This is the first reported case of Klinefelter syndrome with homozygous sex-linked recessive mutation presenting primarily with cardiac manifestation.

  9. Temporary left ventricular assistance for extreme postoperative heart failure in two infants with Bland-White-Garland syndrome

    Science.gov (United States)

    Pawlak, Szymon; Grzybowski, Adam; Śliwka, Joanna; Rycaj, Jarosław; Obersztyn-Zawiślan, Anna; Wierzyk, Arkadiusz; Przybylski, Roman

    2016-01-01

    Anomalous origin of the left coronary artery from the pulmonary artery (Bland-White-Garland syndrome – BWG) is a serious congenital cardiac anomaly leading to myocardial ischemia with severe heart failure. Immediate surgical correction is the treatment of choice, and the risk of postoperative complications depends on the degree of myocardial injury. The authors present two cases of infants with BWG, in whom long-term (175 and 26 days) left ventricular assistance with a Berlin Heart device was used, resulting in successful weaning from the support and subsequent hospital discharge. Because of serious hemorrhagic complications and their neurological consequences observed in the first patient, the anticoagulation protocol was modified in the second patient, providing more stable support and allowing the device to be removed after a shorter period of time. The Berlin Heart left ventricular assist device may be treated not only as a bridge for transplantation but also, considering the shortage of donors in this age group, as a bridge to recovery.

  10. 慢性心力衰竭三焦辨证观%Triple Energizer Syndrome Differentiation on Chronic Heart Failure

    Institute of Scientific and Technical Information of China (English)

    白颖舜

    2011-01-01

    慢性心力衰竭是指心室充盈及(或)射血功能受损,使心排血量降低,不足以满足机体代谢需要的一种临床综合征,文章以三焦理论为指导,从人体全身水液代谢角度简单对此病辨证分析,提出对慢性心衰的治疗当在温补心气的基础上,加以疏导三焦,行气利水,为临床提供新的更为有效的治疗方案.%Chronic heart failure means ventricular filling and ( or ) ejection function, make damaged heart row, low health body metabolization need enough to satisfy a clinical syndrome, taking triple theory as the guide, from human body water metabolism Angle this disease dialectically analyzes simple, and puts forward the treatment of chronic heart failure in the head when based on factors,. Guidance, the dredging of the triple water for clinical provide new and more effective treatments.

  11. Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.

    Science.gov (United States)

    Bacino, C A; Stockton, D W; Sierra, R A; Heilstedt, H A; Lewandowski, R; Van den Veyver, I B

    2000-09-11

    We describe a new syndrome of distal limb anomalies and pigmentary skin defects in 10 females of a large, four-generation pedigree. The family was ascertained through a 4-month-old infant girl with multiple anomalies, including hypertelorism, iris colobomas, low-set ears, midface hypoplasia, punched-out pigmentary abnormalities over the face and scalp, generalized brachydactyly, and digital fibromatosis. No affected males were identified in this pedigree. Affected females had a lower than normal male-to-female ratio of liveborn offspring, and some of them also had a history of several miscarriages. These findings, together with a significant variability in the phenotype of the affected females, suggest that this condition is inherited in an X-linked dominant fashion, with prenatal male lethality, and that X-inactivation plays an important role in the phenotypic expression of the disease. The syndrome has been described twice in the literature, but only in sporadic cases; it was therefore not recognized as a mendelian entity. Because the most consistent findings are anomalies of the distal skeleton of the limbs and localized pigmentary abnormalities of the skin, we named the syndrome "terminal osseous dysplasia with pigmentary defects." This condition, though rare, can be added to the small group of male lethal X-linked dominant disorders in humans.

  12. Evaluation of latent links between irritable bowel syndrome and sleep quality

    Institute of Scientific and Technical Information of China (English)

    Massimo Bellini; Remo Bedini; Nicola de Bortoli; Santino Marchi; Angelo Gemignani; Dario Gambaccini; Simona Toti; Danilo Menicucci; Cristina Stasi; Francesco Costa; Maria Gloria Mumolo; Angelo Ricchiuti

    2011-01-01

    AIM: To examine the links between quality of sleep and the severity of intestinal symptoms in irritable bowel syndrome (IBS). METHODS: One hundred and forty-two outpatients (110 female, 32 male) who met the Rome Ⅲ criteria for IBS with no psychiatric comorbidity were consecutively enrolled in this study. Data on age, body mass index (BMI), and a set of life-habit variables were recorded, and IBS symptoms and sleep quality were evaluated using the questionnaires IBS Symptom Severity Score (IBS-SSS) and Pittsburgh Sleep Quality Index (PSQI). The association between severity of IBS and sleep disturbances was evaluated by comparing the global IBS-SSS and PSQI score (Pearson's correlation and Fisher's exact test) and then analyzing the individual items of the IBS-SSS and PSQI questionnaires by a unitary bowel-sleep model based on item response theory (IRT). RESULTS: IBS-SSS ranged from mild to severe (120- 470). The global PSQI score ranged from 1 to 17 (median 5), and 60 patients were found to be poor sleepers (PSQI > 5). The correlation between the global IBS-SSS and PSQI score indicated a weak association (r = 0.2 and 95% CI: -0.03 to 0.35, P < 0.05), which becomes stronger using our unitary model. Indeed, the IBS and sleep disturbances severities, estimated as latent variables, resulted significantly high intra-subject correlation (posterior mean of r = 0.45 and 95% CI: 0.17 to 0.70, P < 0.05). Moreover, the correlations between patient features (age, sex, BMI, daily coffee and alcohol intake) and IBS and sleep disturbances were also analyzed through our unitary model. Age was a significant regressor, with patients ≤ 50 years old showing more severe bowel disturbances (posterior mean = -0.38, P < 0.05) and less severe sleep disturbances (posterior mean = 0.49, P < 0.05) than older patients. Higher daily coffee intake was correlated with a lower severity of bowel disturbances (posterior mean = -0.31, P < 0.05). Sex (female) and daily alcohol intake (modest) were

  13. Upregulation of skeletal muscle inflammatory genes links inflammation with insulin resistance in women with the metabolic syndrome.

    Science.gov (United States)

    Poelkens, Fleur; Lammers, Gerwen; Pardoel, Elisabeth M; Tack, Cees J; Hopman, Maria T E

    2013-10-01

    The metabolic syndrome, a combination of interrelated metabolic risk factors, is associated with insulin resistance and promotes the development of cardiovascular diseases and type 2 diabetes mellitus. There is a close link between inflammation and metabolic disease, but the responsible mechanisms remain elusive. The aim of this study was to identify differentially expressed genes in insulin-resistant skeletal muscle tissue of women with the metabolic syndrome compared with healthy control women. Women with the metabolic syndrome (n = 19) and healthy control women (n = 20) were extensively phenotyped, insulin sensitivity was measured using a hyperinsulinaemic euglycaemic clamp, and a skeletal muscle biopsy was obtained. Gene expression levels were compared between the two groups by microarrays. The upregulated genes in skeletal muscle of the women with the metabolic syndrome were primarily enriched for inflammatory response-associated genes. The three most significantly upregulated of this group, interleukin 6 receptor (IL6R), histone deacetylase 9 (HDAC9) and CD97 molecule (CD97), were significantly correlated with insulin resistance. Taken together, these findings suggest an important role for a number of inflammatory-related genes in the development of skeletal muscle insulin resistance.

  14. Genetics Home Reference: immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

    Science.gov (United States)

    ... involving the pancreas and is the most common endocrine disorder present in people with IPEX syndrome . It usually ... to those that involve the intestines, skin, and endocrine glands. Autoimmune blood disorders are common; about half of affected individuals have ...

  15. 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

  16. A modified HEART risk score in chest pain patients with suspected non-ST-segment elevation acute coronary syndrome

    Institute of Scientific and Technical Information of China (English)

    Chun-Peng MA; Xiao WANG; Qing-Sheng WANG; Xiao-Li LIU; Xiao-Nan HE; Shao-Ping NIE

    2016-01-01

    ObjectiveTo validate a modified HEART [History, Electrocardiograph (ECG), Age, Risk factors and Troponin] risk score in chest pain patients with suspected non-ST-segment elevation acute coronary syndrome (NSTE-ACS) in the emergency department (ED).Methods This retrospective cohort study used a prospectively acquired database and chest pain patients admitted to the emergency department with suspected NSTE-ACS were enrolled. Data recorded on arrival at the ED were used. The serum sample of high-sensitivity cardiac Troponin I other than conventional cardiac Troponin I used in the HEART risk score was tested. The modified HEART risk score was calculated. The end point was the occurrence of major adverse cardiac events (MACE) defined as a composite of acute myocardial infarction (AMI), percu-taneous intervention (PCI), coronary artery bypass graft (CABG), or all-cause death, within three months after initial presentation.Results A total of 1,300 patients were enrolled. A total of 606 patients (46.6%) had a MACE within three months: 205 patients (15.8%) were diag-nosed with AMI, 465 patients (35.8%) underwent PCI, and 119 patients (9.2%) underwent CABG. There were 10 (0.8%) deaths. A progres-sive, significant pattern of increasing event rate was observed as the score increased (P < 0.001 byχ2 for trend). The area under the receiver operating characteristic curve was 0.84. All patients were classified into three groups: low risk (score 0–2), intermediate risk (score 3–4), and high risk (score 5–10). Event rates were 1.1%, 18.5%, and 67.0%, respectively (P < 0.001).ConclusionsThe modified HEART risk score was validated in chest pain patients with suspected NSTE-ACS and may complement MACE risk assessment and patients triage in the ED. A prospective study of the score is warranted.

  17. Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

    OpenAIRE

    Mlynarski, Elisabeth E.; Sheridan, Molly B.; Xie, Michael; Guo, Tingwei; Racedo, Silvia E.; McDonald-McGinn, Donna M.; Gai, Xiaowu; Chow, Eva W.C.; Vorstman, Jacob; Swillen, Ann; Devriendt, Koen; Breckpot, Jeroen; Digilio, Maria Cristina; Marino, Bruno; Dallapiccola, Bruno

    2015-01-01

    The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic presentation is highly variable. Approximately 65% of individuals with 22q11DS have a congenital heart defect (CHD), mostly of the conotruncal type, and/or an aortic arch defect. The etiology of this phenotypic variability is not currently known. We hypothesized that copy-number variants (CNVs) outside the 22q11.2 deleted region might increase the ...

  18. TAR (THROMBOCYTOPENIA WITH ABSENT RADIUS) SYNDROME WITH CONGENITAL ACYANOTIC HEART DISEASE: A RARE CASE REPORT

    OpenAIRE

    Ashok S; Ankit; Aundhakar; Lekha; Umardand

    2016-01-01

    It is a rare genetic disorder characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count. This syndrome may occur as a part of the 1q21.1 deletion syndrome. Symptoms of thrombocytopenia or a lowered platelet count leads to bruising and potentially life-threatening haemorrhage. Affected children who survive this period and do not have damaging haemorrhages in the brain usually have a normal life expectancy and normal intellectual develo...

  19. "Prevalence and criteria of metabolic syndrome in an urban population: Yazd Healthy Heart Project "

    Directory of Open Access Journals (Sweden)

    Sadrbafoghi SM

    2007-04-01

    Full Text Available Background: Metabolic syndrome is a complex of metabolic disorders that contemporary occurrence in a person is more than the risk of occurrence of each one separately. this syndrome has gained researcher's attention because of its relationship with cardiovascular disease and diabetes type II and its high prevalence in populations Methods: A cross-sectional study performed on 1110 participants, 20-74 years old with cluster sampling. All of them had interview and special questionnaire were filled. Epidemiologic and demographic data were about hypertention cardio vascular disease and related lab data. Results: The prevalence of metabolic syndrome was 32.1% that it was significantly more in women than men .this prevalence increased with age and BMI in both sexes .the most common metabolic disorder was TG>=150. 19.2% have none, 21.1% have one, 27.6% have two, 20.8% have three,9% have four and 2.3% have all criteria of metabolic syndrome. Conclusion: Approximately one third of population of Yazd have metabolic syndrome and according to other statistics of Iran, this prevalence is more than U.S and Europe. It seems there is an urgent need for a national multicenter program for determinding risk factors for metabolic syndrome.

  20. Picturing the Heart

    Science.gov (United States)

    ... Links for Students Glossary Picturing the Heart SCIENCE EDUCATION Science Topics Resource Links for General Public Resource Links for Parents/Teachers Resource Links for Students Glossary Government Resources Kids.gov – Science Information and services on the web ...

  1. Ovarian cancer linked to lynch syndrome typically presents as early-onset, non-serous epithelial tumors

    DEFF Research Database (Denmark)

    Bartuma, Katarina; Bernstein, Inge; Malander, Susanne

    2011-01-01

    OBJECTIVE: Heredity is a major cause of ovarian cancer and during recent years the contribution from germline mismatch repair (MMR) gene mutations linked to Lynch syndrome has gradually been recognized. METHODS: We characterized clinical features, tumor morphology and mismatch repair defects in all....... The underlying MMR gene mutations in these families affected MSH2 in 49%, MSH6 in 33% and MLH1 in 17%. Immunohistochemical loss of the corresponding MMR protein was demonstrated in 33/36 (92%) tumors analyzed. CONCLUSION: The combined data from our cohorts demonstrate that ovarian cancer associated with Lynch...

  2. 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.

    2015-01-01

    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 intelle

  3. 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

  4. Further confirmation of the MED13L haploinsufficiency syndrome

    NARCIS (Netherlands)

    van Haelst, M.M.|info:eu-repo/dai/nl/33889392X; Monroe, G.R.; Duran, K.J.|info:eu-repo/dai/nl/304814385; van Binsbergen, E.|info:eu-repo/dai/nl/337990336; Breur, J.M.P.J.|info:eu-repo/dai/nl/26368850X; Giltay, J.C.|info:eu-repo/dai/nl/074049089; van Haaften, G.W.|info:eu-repo/dai/nl/304075515

    2015-01-01

    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 intelle

  5. A systematic review of selective and non-selective beta blockers for prevention of vascular events in patients with acute coronary syndrome or heart failure

    NARCIS (Netherlands)

    De Peuter, O.R.; Lussana, F.; Peters, R.J.G.; Büller, H.R.; Kamphuisen, P.W.

    2009-01-01

    Background: To assess the influence of β2-receptor suppression on top of selective β1-receptor blockade on the occurrence of vascular events and on all-cause mortality in patients with acute coronary syndrome (ACS) or heart failure (HF). Methods: Systematic review of studies published since 1980. Ra

  6. CE: Original Research: Examining the Links Between Lifestyle Factors and Metabolic Syndrome.

    Science.gov (United States)

    Chang, Shu-Hung; Chen, Miao-Chuan; Chien, Nai-Hui; Wu, Li-Yu

    2016-12-01

    : Background: As it is in many other developed countries, obesity is a growing health concern in Taiwan, affecting nearly 20% of the adult population. Obesity can increase the risk of developing metabolic syndrome, diabetes, and cardiovascular disease. Recent data indicate that the prevalence of metabolic syndrome in Taiwan is 25.5%. Yet some overweight and obese individuals have normal metabolic profiles. It's not clear why some overweight or obese people remain metabolically healthy while others do not. The purpose of this study was to examine lifestyle risk factors for metabolic syndrome in people who are overweight or obese. We were particularly interested in distinguishing those lifestyle factors associated with metabolic health in this population. Data collected from community-based physical examinations in northern Taiwan were used for this cross-sectional study. A survey was conducted from 2013 to 2014. We collected data on demographic variables, clinically pertinent measures (weight; height; waist circumference; blood pressure; and levels of fasting blood glucose, triglycerides, and high-density lipoprotein cholesterol), and lifestyle factors (smoking, drinking, exercise, and dietary habits). To analyze the data, we used percentage, mean, standard deviation, χ test, independent t test, the Fisher exact test, phi correlation, and logistic regression. The overall prevalence of metabolic syndrome among all 734 participants was 36.4%. For the normal weight, overweight, and obese groups, the prevalence of metabolic syndrome was 12.4%, 36.4%, and 61.6%, respectively. The results of logistic regression showed, however, that obese individuals who exercised regularly and ate sufficient amounts of fruit were less likely to have metabolic syndrome, and that overweight individuals who were nonsmokers and ate sufficient amounts of vegetables were also less likely to have metabolic syndrome. Lifestyle factors may significantly affect the development of metabolic

  7. A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome.

    Science.gov (United States)

    Ruiter, Mariken; Kamsteeg, Erik-Jan; Meroni, Germana; de Vries, Bert B A

    2010-10-01

    The X-linked Opitz G/BBB syndrome (OS) is a congenital malformation disorder characterized by hypertelorism, swallowing difficulties, hypospadias, and additional midline malformations. Loss of function mutations in the MID1 gene at Xp22.3 are responsible for the X-linked form of OS. Various mutations are found all over the gene but without a clear genotype-phenotype correlation. We describe additional family studies of a previously reported boy with a relatively mild form of OS, caused by the unique p.Lys370Glu (c.1108A>G) mutation in MID1. The same mutation was found in his clinically affected brother but also in the healthy maternal uncle. To our knowledge, this is the first report of a MID1 missense mutation causing non-penetrance in a male.

  8. 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.

  9. 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.

  10. 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....

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

    Directory of Open Access Journals (Sweden)

    Giuseppe Damiano Sanna

    2016-10-01

    Full Text Available 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.

  12. Apraxia in anti-glutamic acid decarboxylase-associated stiff person syndrome: link to corticobasal degeneration?

    Science.gov (United States)

    Bowen, Lauren N; Subramony, S H; Heilman, Kenneth M

    2015-01-01

    Corticobasal syndrome (CBS) is associated with asymmetrical rigidity as well as asymmetrical limb-kinetic and ideomotor apraxia. Stiff person syndrome (SPS) is characterized by muscle stiffness and gait difficulties. Whereas patients with CBS have several forms of pathology, many patients with SPS have glutamic acid decarboxylase antibodies (GAD-ab), but these 2 disorders have not been reported to coexist. We report 2 patients with GAD-ab-positive SPS who also had signs suggestive of CBS, including asymmetrical limb rigidity associated with both asymmetrical limb-kinetic and ideomotor apraxia. Future studies should evaluate patients with CBS for GAD-ab and people with SPS for signs of CBS.

  13. Isolated Left Ventricular Noncompaction in a Case of Sotos Syndrome: A Casual or Causal Link?

    Directory of Open Access Journals (Sweden)

    Patrizia Saccucci

    2011-01-01

    Full Text Available A 16-year-old boy affected by Sotos syndrome was referred to our clinic for cardiac evaluation in order to play noncompetitive sport. Physical examination was negative for major cardiac abnormalities and rest electrocardiogram detected only minor repolarization anomalies. Transthoracic echocardiography showed left ventricular wall thickening and apical trabeculations with deep intertrabecular recesses, fulfilling criteria for isolated left ventricular noncompaction (ILVNC. Some sporadic forms of ILVNC are reported to be caused by a mutation on CSX gene, mapping on chromosome 5q35. To our knowledge, this is the first report of a patient affected simultaneously by Sotos syndrome and ILVNC.

  14. Impact of obesity and Down syndrome on peak heart rate and aerobic capacity in youth and adults.

    Science.gov (United States)

    Wee, Sang Ouk; Pitetti, Kenneth H; Goulopoulou, Styliani; Collier, Scott R; Guerra, Myriam; Baynard, Tracy

    2014-10-24

    Individuals with Down syndrome (DS) exhibit reduced aerobic capacity with reduced peak heart rate (HRpeak). This condition is often coexistent with higher level of obesity compared to individuals without DS. The purpose of this study is to investigate the effects of obesity and Down syndrome (DS) on peak heart rate (HRpeak) and peak oxygen consumption (VO2peak) in children and adults both with and without intellectual disabilities (ID)s. VO2peak and HRpeak from individualized treadmill tests on 654 individuals were analyzed. Body mass index was used to categorize individuals' weight status using standard cut-offs. DS groups had the lowest HRpeak (167bpm±14, pObesity did not affect HRpeak among adults and children with DS. VO2peak was lower among individuals with DS (25.2mL/kg/min±6.3, pObese adults with DS had lower VO2peak (24.3mL/kg/min±6.9, p=0.001) compared to the normal weight (26.7±7.1mL/kg/min) and overweight groups (27.0mL/kg/min±6.1) with DS. Conversely, in children, obesity level did not impact VO2peak in individuals with DS. Our results suggest that DS attenuates both VO2peak and HRpeak, regardless of obesity status and age group. However, obesity was associated with lower VO2peak in all adults, but not in children with DS.

  15. 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.

  16. Blau Syndrome-Related CARD15/NOD2 Mutations Are Not Linked to Idiopathic Uveitis in Spanish Patients

    Directory of Open Access Journals (Sweden)

    Noelia Rodríguez-Pérez

    2009-01-01

    Full Text Available Uveitis is a clinical feature of the Blau syndrome, a disease linked to CARD15 (also referred to as NOD2 mutations. Three main mutations in this gene (R334W, R334Q and L469F have been reported as Blau syndrome risk factors, a disease that manifests uveitis as one of its clinical features. However, little is known on the involvement of this gene in idiopathic uveitis. We thus sought to determine the frequency of these Blau-related CARD15 mutations in a cohort of Spanish patients with idiopathic uveitis. To this aim, 110 patients with idiopathic uveitis, followed at the Department of Ophtalmology of a tertiary hospital (Hospital Universitario Alcalá de Henares, Madrid. Spain were enrolled. As a control population, 104 healthy subjects were used. DNA was extracted from blood samples and the Blau-related CARD15 mutations were analysed either by PCR-RFLP or direct DNA sequencing. None of the mutations studied was found in any of the individuals tested, whether diseased or healthy. It seems thus that Blau syndrome-related CARD15 mutations are not involved in idiopathic uveitis, a finding which allows us to suggest that the genetic aetiology of the idiopathic uveitis or the Blau-associated uveitis is different.

  17. 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...... are the limiting factors for exercise capacity. METHODS AND RESULTS: Forty-seven patients with left ventricular ejection fraction (LVEF)...

  18. Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhauser syndrome and central corneal thickness.

    Directory of Open Access Journals (Sweden)

    Alice E Davidson

    Full Text Available We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1. Our mutation-positive cohort enabled us to establish ultrasonography as a reliable clinical diagnostic tool to distinguish between MGC1 and primary congenital glaucoma (PCG. Megalocornea is also a feature of Neuhäuser or megalocornea-mental retardation (MMR syndrome, a rare condition of unknown etiology. In a male patient diagnosed with MMR, we performed targeted and whole exome sequencing (WES and identified a novel missense mutation in CHRDL1 that accounts for his MGC1 phenotype but not his non-ocular features. This finding suggests that MMR syndrome, in some cases, may be di- or multigenic. MGC1 patients have reduced central corneal thickness (CCT; however no X-linked loci have been associated with CCT, possibly because the majority of genome-wide association studies (GWAS overlook the X-chromosome. We therefore explored whether variants on the X-chromosome are associated with CCT. We found rs149956316, in intron 6 of CHRDL1, to be the most significantly associated single nucleotide polymorphism (SNP (p = 6.81×10(-6 on the X-chromosome. However, this association was not replicated in a smaller subset of whole genome sequenced samples. This study highlights the importance of including X-chromosome SNP data in GWAS to identify potential loci associated with quantitative traits or disease risk.

  19. Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clincal review with six additional families

    Energy Technology Data Exchange (ETDEWEB)

    Schrander-Stumpel, C.; Hoeweler, C. [Univ. of Limburg (Netherlands); Jones, M. [Children`s Hospital, Sandiego, CA (United States)] [and others

    1995-05-22

    X-linked hydrocephalus (HSAS) (MIM{sup *}307000), MASA syndrome (MIM {sup *}303350), and complicated spastic paraplegia (SPG1) (MIM {sup *}3129000) are closely related. Soon after delineation, SPG1 was incorporated into the spectrum of MASA syndrome. HSAS and MASA syndrome show great clinical overlap; DNA linkage analysis places the loci at Xq28. In an increasing number of families with MASA syndrome or HSAS, mutations in L1CAM, a gene located at Xq28, have been reported. In order to further delineate the clinical spectrum, we studied 6 families with male patients presenting with MASA syndrome, HSAS, or a mixed phenotype. We summarized data from previous reports and compared them with our data. Clinical variability appears to be great, even within families. Problems in genetic counseling and prenatal diagnosis, the possible overlap with X-linked corpus callosum agenesis and FG syndrome, and the different forms of X-linked complicated spastic paraplegia are discussed. Since adducted thumbs and spastic paraplegia are found in 90% of the patients, the condition may be present in males with nonspecific mental retardation. We propose to abandon the designation MASA syndrome and use the term HSAS/MASA spectrum, incorporating SPG1. 79 refs., 6 figs., 2 tabs.

  20. 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...

  1. Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation.

    Science.gov (United States)

    Marzano, A V; Borghi, A; Meroni, P L; Cugno, M

    2016-11-01

    Pyoderma gangrenosum is a rare inflammatory neutrophilic dermatosis manifesting as painful ulcers with violaceous, undermined borders on the lower extremities. It may occur in the context of classic syndromes like PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) and SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis), as well as in a recently described entity named PASH (pyoderma gangrenosum, acne and suppurative hidradenitis). Pyoderma gangrenosum has recently been included within the spectrum of autoinflammatory diseases, which are characterized by recurrent episodes of sterile inflammation, without circulating autoantibodies and autoreactive T cells. In PAPA syndrome, different mutations involving the PSTPIP1 gene, via an increased binding affinity to pyrin, induce the assembly of inflammasomes. These are molecular platforms involved in the activation of caspase 1, a protease that cleaves inactive prointerleukin (pro-IL)-1β to its active isoform IL-1β. The overproduction of IL-1β triggers the release of a number of proinflammatory cytokines and chemokines, which are responsible for the recruitment and activation of neutrophils, leading to neutrophil-mediated inflammation. In SAPHO syndrome, the activation of the PSTPIP2 inflammasome has been suggested to play a role in inducing the dysfunction of the innate immune system. Patients with PASH have recently been reported to present alterations of genes involved in well-known autoinflammatory diseases, such as PSTPIP1, MEFV, NOD2 and NLRP3. Pyoderma gangrenosum and its syndromic forms can be regarded as a single clinicopathological spectrum in the context of autoinflammation.

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

    NARCIS (Netherlands)

    Rubio-Gozalbo, ME; van Waardenburg, DA; Forget, PP; Spaapen, LJM; Verrips, A; Vroomen, PCAJ

    2001-01-01

    An 8 year-old boy with X-ALD under treatment with sinavastatin 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.

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

    NARCIS (Netherlands)

    Rubio-Gozalbo, ME; van Waardenburg, DA; Forget, PP; Spaapen, LJM; Verrips, A; Vroomen, PCAJ

    2001-01-01

    An 8 year-old boy with X-ALD under treatment with sinavastatin 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.

  4. Subglottic stenosis in Shwachman-Diamond syndrome - is there a link?

    Science.gov (United States)

    Keereweer, S; Appel, I M; Hoeve, L J

    2012-10-01

    Clinically relevant cartilaginous subglottic stenosis was found in 2 patients with Shwachman-Diamond syndrome (SDS) for which tracheotomy was required in one case. Considering the pathogenesis of SDS, including deficient chondrogenesis, we hypothesise that subglottic stenosis may be a rare symptom of SDS. Otorhinolaryngologist and paediatricians should be aware of the risk of airway pathology in patients with SDS.

  5. Paracentric inversion of chromosome 7 (46,XX,inv(7)(q21.2q22)) in a newborn with hypoplastic left heart syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kuforjii, T.A.; Pillers, D.M.; Silberbach, M. [Oregon Health Sciences Univ., Portland, OR (United States)] [and others

    1994-09-01

    Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease that is uniformly fatal without surgical intervention. Fetal echocardiography allows prenatal diagnosis, but this condition may not become apparent until after the mid-second trimester. We report a term baby with severe HLHS who had an 18 week fetal ultrasound that reportedly demonstrated a normal heart. There was no family history of congenital heart disease. She was phenotypically female with no dysmorphic features. Physical examination was otherwise normal. She expired at 48 hours of age. The autopsy was noncontributory. The karyotype was 46,XX, but there was an apparently balanced paracentric inversion of the long arm of chromosome 7 (46,XX,inv(7)(q21.2q22)). The mother`s chromosome study was normal without any inversion, and the father was not available for study. Hypoplastic left heart syndrome has been associated with extracardiac anomalies and chromosomal abnormalities including 45,XO,11q-, and trisomy 18. It has also been reported in 5 members spanning 3 generations of a family with a spectrum of left heart defects suggesting an autosomal dominant pattern with high penetrance. First-degree relatives of infants with HLHS have a thirteen percent incidence of related cardiovascular malformations, a frequency higher than predicted by a multifactorial model of inheritance, suggesting that at least a portion of HLHS have a genetic basis. Karyotype analysis, including high resolution banding, may help define the etiology of this condition. Chromosome 7 has not been implicated in HLHS. This case emphasizes the need for genetic analysis, including a pedigree, of affected families. It also underscores the importance of screening by karyotype analysis to determine whether defects of the long arm of chromosome 7 are important in the pathogenesis of hypoplastic left heart syndrome.

  6. 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 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.

  7. Fetal reprogramming and senescence in hypoplastic left heart syndrome and in human pluripotent stem cells during cardiac differentiation.

    Science.gov (United States)

    Gaber, Naila; Gagliardi, Mark; Patel, Pranali; Kinnear, Caroline; Zhang, Cindy; Chitayat, David; Shannon, Patrick; Jaeggi, Edgar; Tabori, Uri; Keller, Gordon; Mital, Seema

    2013-09-01

    Hypoplastic left heart syndrome (HLHS) is a severe cardiac malformation characterized by left ventricle (LV) hypoplasia and abnormal LV perfusion and oxygenation. We studied hypoxia-associated injury in fetal HLHS and human pluripotent stem cells during cardiac differentiation to assess the effect of microenvironmental perturbations on fetal cardiac reprogramming. We studied LV myocardial samples from 32 HLHS and 17 structurally normal midgestation fetuses. Compared with controls, the LV in fetal HLHS samples had higher nuclear expression of hypoxia-inducible factor-1α but lower angiogenic growth factor expression, higher expression of oncogenes and transforming growth factor (TGF)-β1, more DNA damage and senescence with cell cycle arrest, fewer cardiac progenitors, myocytes and endothelial lineages, and increased myofibroblast population (P cells (SMCs) had less DNA damage compared with endothelial cells and myocytes. We recapitulated the fetal phenotype by subjecting human pluripotent stem cells to hypoxia during cardiac differentiation. DNA damage was prevented by treatment with a TGF-β1 inhibitor (P cells). The hypoplastic LV in fetal HLHS samples demonstrates hypoxia-inducible factor-1α up-regulation, oncogene-associated cellular senescence, TGF-β1-associated fibrosis and impaired vasculogenesis. The phenotype is recapitulated by subjecting human pluripotent stem cells to hypoxia during cardiac differentiation and rescued by inhibition of TGF-β1. This finding suggests that hypoxia may reprogram the immature heart and affect differentiation and development.

  8. Kidney disease in heart failure: the importance of novel biomarkers for type 1 cardio-renal syndrome detection.

    Science.gov (United States)

    Palazzuoli, Alberto; McCullough, Peter A; Ronco, Claudio; Nuti, Ranuccio

    2015-08-01

    Chronic kidney disease (CKD) in heart failure (HF) has been recognized as an independent risk factor for adverse outcome, although the most important clinical trials tend to exclude patients with moderate and severe renal insufficiency. Despite this common association, the precise pathophysiological connection and liaison between heart and kidney is partially understood. Moreover, is it not enough considering how much cardio-renal syndrome type 1 is attributable to previous CKD, and how much to new-onset acute kidney injury (AKI). Neither development of AKI, its progression and time nor duration is related to an adverse outcome. An AKI definition is not universally recognized, and many confounding terms have been used in literature: "worsening renal function", "renal impairment", "renal dysfunction", etc., are all names that contribute to misunderstanding, and do not facilitate an universal classification. Therefore, AKI development should be the consequence of the basal clinical characteristics of patients, different primitive kidney disease and hemodynamic status. AKI could also be the mirror of several underlying associated diseases poorly controlled. Finally, it is not clear which is the optimal laboratory tool for identifying patients with an increased risk of AKI. In the current report, we review the different kidney diseases' impact in HF, and we analyze the modalities for AKI recognition during HF focusing our attention about some new biomarkers with potential application in the current setting.

  9. Application of Mathematical Modeling for Simulation and Analysis of Hypoplastic Left Heart Syndrome (HLHS in Pre- and Postsurgery Conditions

    Directory of Open Access Journals (Sweden)

    Ali Jalali

    2015-01-01

    Full Text Available This paper is concerned with the mathematical modeling of a severe and common congenital defect called hypoplastic left heart syndrome (HLHS. Surgical approaches are utilized for palliating this heart condition; however, a brain white matter injury called periventricular leukomalacia (PVL occurs with high prevalence at or around the time of surgery, the exact cause of which is not known presently. Our main goal in this paper is to study the hemodynamic conditions under which HLHS physiology may lead to the occurrence of PVL. A lumped parameter model of the HLHS circulation has been developed integrating diffusion modeling of oxygen and carbon dioxide concentrations in order to study hemodynamic variables such as pressure, flow, and blood gas concentration. Results presented include calculations of blood pressures and flow rates in different parts of the circulation. Simulations also show changes in the ratio of pulmonary to systemic blood flow rates when the sizes of the patent ductus arteriosus and atrial septal defect are varied. These changes lead to unbalanced blood circulations and, when combined with low oxygen and carbon dioxide concentrations in arteries, result in poor oxygen delivery to the brain. We stipulate that PVL occurs as a consequence.

  10. Diagnosis and management of fluid overload in heart failure and cardio-renal syndrome: the "5B" approach.

    Science.gov (United States)

    Ronco, Claudio; Kaushik, Manish; Valle, Roberto; Aspromonte, Nadia; Peacock, W Frank

    2012-01-01

    Cardio-Renal syndrome may occur as a result of either primarily renal or cardiac dysfunction. This complex interaction requires a tailored approach to manage the underlying pathophysiology while optimizing the patient's symptoms and thus providing the best outcomes. Patients often are admitted to the hospital for signs and symptoms of congestion and fluid overload is the most frequent cause of subsequent re-admission. Fluid management is of paramount importance in the strategy of treatment for heart failure patients. Adequate fluid status should be obtained but a target value should be set according to objective indicators and biomarkers. Once the fluid excess is identified, a careful prescription of fluid removal by diuretics or extracorporeal therapies must be made. While delivering these therapies, adequate monitoring should be performed to prevent unwanted effects such as worsening of renal function or other complications. There is a very narrow window of optimal hydration for heart failure patients. Overhydration can result in myocardial stretching and potential decompensation. Inappropriate dehydration or relative reduction of circulating blood volume may result in distant organ damage caused by inadequate perfusion. We suggest consideration of the "5B" approach. This stands for balance of fluids (reflected by body weight), blood pressure, biomarkers, bioimpedance vector analysis, and blood volume. Addressing these parameters ensures that the most important issues affecting symptoms and outcomes are addressed. Furthermore, the patient is receiving the best possible care while avoiding unwanted side effects of the treatment. Copyright © 2012 Elsevier Inc. All rights reserved.

  11. 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.)

  12. 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 h

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

    OpenAIRE

    S. Gupta; B. Goswami; 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.

  14. 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.

  15. Correlation among obstructive sleep apnea syndrome, coronary atherosclerosis and coronary heart disease

    Institute of Scientific and Technical Information of China (English)

    LU Gan; XU Zhuo-wen; ZHANG Yu-lin; YANG Zhi-jian; ZHANG Xi-long; YIN Kai-sheng

    2007-01-01

    @@ Epidemiologic investigations have shown that the morbidity of obstructive sleep apnea syndrome (OSAS) among adults is 2%-4%, among the population aged 30 years and over is 4.63%, and among patients with hypertension or coronary atherosclerostic disease (CAD) is as high as 30%-50%.

  16. 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.

  17. High Density Lipoprotein Phospholipids as a Marker of Coronary Heart Disease of Shen-Yang Deficiency Syndrome

    Institute of Scientific and Technical Information of China (English)

    GUO Ping-qing (郭平清); LIN Qiu-cheng (林求诚); GUO Yin-geng (郭银庚); SHEN Zong-guo (沈宗国)

    2003-01-01

    Objective: To seek a new biochemical index for diagnosis of coronary heart disease (CHD)of shen-Yang deficiency syndrom (CHD-SYD). Methods: Sixty-one patients with CHD were divided into 3 groups according to their TCM Syndrome type, 10 patients in the group without Xin-Qi deficiency (Group A), 25 in the group with Xin-Qi deficiency but without Shen-Yang deficiency (Group B) and 26 in the group both with Xin-Qi deficiency and Shen-Yang deficiency (Group C). Levels of 17-hydroxy-corticosteroid in urine (urinary 17-OHCS) per 24 hrs, and serum level of high density lipoprotein cholesterol (HDL-C) and high density lipoprotein phospholipid (HDL-PL) in them were determined in synchrostep and compared with those in the control group of 23 healthy aged persons. urinary 17-OHCS per 24 hrs was taken as the diagnostic standard to screen a new index for diagnosis of Shen-Yang deficiency Syndrome, and preliminary appraisal to the index was made. Results: Serum HDL-PL in the CHD-SYD patients( Group C) was 616±157 mg/L, which was obviously lower than that in the patients of Group A and B. With low HDL-PL (<650 mg/L) used as the index to diagnose CHD-SYD, the sensitivity was 73%, the specificity 86% and the accuracy 80%. Conclusion: HDL-PL <650 mg/L could be adopted as an index for CHD-SYD diagnosis, which is simple and practical.

  18. Examining the relationship between heart rate and problem behavior: a case study of severe skin picking in Prader-Willi syndrome.

    Science.gov (United States)

    Hall, Scott S; Hammond, Jennifer L; Hustyi, Kristin M

    2013-11-01

    Few studies have examined the relationship between heart rate and self-injurious behavior (SIB) shown by individuals with IDD (intellectual and developmental disabilities). In this single-case study, we simultaneously monitored heart rate and activity levels during a functional analysis of severe skin picking behavior exhibited by a young man with Prader-Willi syndrome (PWS). Results of the functional analysis indicated that the participant's skin picking was maintained by automatic reinforcement. A within-session analysis of the data indicated that skin picking bouts resulted in an increase in heart rate, suggesting a positive- automatic reinforcement function. These data indicate that inclusion of heart rate and activity-level monitoring during a functional analysis may provide important additional information concerning the determinants of SIB.

  19. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  20. Renal dysfunction and anemia in patients with heart failure — the cardio-renal anemia syndrome

    OpenAIRE

    Malić, Daniela; Matijević, Sanja; Bubić, Ivan; Rački, Sanjin; Zaputović, Luka

    2011-01-01

    Cardiovascular diseases are the leading cause of morbidity and mortality in patients with chronic kidney disease. The appearance of cardiovascular complications is strongly in positive correlation with the severity of kidney disease. About 40% of patients with moderate or severe kidney disease and even 60% of patients in the terminal phase have some degree of chronic heart failure. “The Cardio-Renal Syndrome” represents a variety of pathophysiological abnormalities of ...

  1. Overactive bladder: Is there a link to the metabolic syndrome in men?

    Science.gov (United States)

    Kirby, Michael G; Wagg, Adrian; Cardozo, Linda; Chapple, Christopher; Castro-Diaz, David; de Ridder, Dirk; Espuna-Pons, Montserrat; Haab, Francois; Kelleher, Con; Kölbl, Heinz; Milsom, Ian; Van Kerrebroeck, Philip; Vierhout, Mark; Salvatore, Stefano; Tubaro, Andrea

    2010-11-01

    It is becoming increasingly clear that a variety of metabolic, cardiovascular, and endocrine factors contribute to male pelvic health. In particular, a growing body of evidence suggests a relationship between lower urinary tract symptoms, benign prostatic hyperplasia, overactive bladder, erectile dysfunction, and the metabolic syndrome. This article explores these relationships, focusing on the role of the autonomic nervous system and hyperinsulinemia, together with their implications for urological practice.

  2. Obstructive sleep apnea syndrome and fatty liver: Association or causal link?

    Institute of Scientific and Technical Information of China (English)

    Mohamed; H; Ahmed; Christopher; D; Byrne

    2010-01-01

    Obstructive sleep apnea (OSA) is a complex disorder that consists of upper airway obstruction, chronic intermittent hypoxia and sleep fragmentation. OSA is well known to be associated with hypoxia, insulin resistance and glucose intolerance, and these factors can occur in the presence or absence of obesity and metabolic syndrome. Although it is well established that insulin resistance, glucose intolerance and obesity occur frequently with non-alcoholic fatty liver disease (NAFLD), it is now becoming apparen...

  3. Effects of beta 1-->4 linked galactooligosaccharides on use of magnesium and calcification of the kidney and heart in rats fed excess dietary phosphorous and calcium.

    Science.gov (United States)

    Chonan, O; Takahashi, R; Yasui, H; Watanuki, M

    1996-10-01

    Magnesium deficiency was induced in male Wistar rats by adding an excess of phosphorous and calcium to the diet (1.195 g of phosphorous and 1.04 g of calcium/100 g of diet). Feeding of these animals with a diet containing beta 1-->4 linked galactooligosaccharides (4'-GOS) (5 g of 4'-GOS/100 g of diet) increased the apparent magnesium absorption ratios and the concentrations of magnesium in the serum and femur, and reduced accumulation of calcium in the kidney and heart. We speculate that the use of magnesium increased by feeding 4'-GOS to a limited extent prevented the lower magnesium status and the severity of calcification of the kidney and heart caused by excess dietary phosphorous and calcium.

  4. Advanced glycation end products: possible link between metabolic syndrome and periodontal diseases.

    Science.gov (United States)

    Pietropaoli, D; Monaco, A; Del Pinto, R; Cifone, M G; Marzo, G; Giannoni, M

    2012-01-01

    On a planetary scale, Metabolic Syndrome (MetS)is the third cause of inability after malnutrition and nicotinism, even higher than water shortage and sedentariness. In the USA, the prevalence is estimated at over 25 percent of the population; in Italy, it involves approximately 25 percent of men and even 27 percent of women. These are very high figures, corresponding to approximately 14 million affected individuals. The prevalence is alarming and must not be underestimated, particularly in the dental field, where more than one patient out of four sitting in a dentist chair is affected. The etiology of periodontal disease has not yet been clarified, and recently the idea to consider it as a multifactor pathology has been developed. Cofactors such as the formation of free radicals of oxygen (ROS), oxidative stress, lipid peroxidation, and formation of glycation end-products (AGEs) probably play an important role in the onset of periodontal disease. The AGEs are compounds physiologically produced by the cells. However, they accumulate and cause pro-inflammatory conditions, when the cellular clearance fails, or in hyperglycemic and oxidative states. All these conditions can be clinically summarized as Metabolic Syndrome. The purpose of this literature review is to establish a relationship between two pathologies with very high prevalence: Metabolic Syndrome and Periodontal Disorder. The literature seems to have clarified that MetS involves a pro-oxidation status, which induces AGE formation. AGEs play a very important role in the course and severity of periodontal diseases.

  5. Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

    Science.gov (United States)

    Parenti, Ilaria; Teresa-Rodrigo, María E; Pozojevic, Jelena; Ruiz Gil, Sara; Bader, Ingrid; Braunholz, Diana; Bramswig, Nuria C; Gervasini, Cristina; Larizza, Lidia; Pfeiffer, Lutz; Ozkinay, Ferda; Ramos, Feliciano; Reiz, Benedikt; Rittinger, Olaf; Strom, Tim M; Watrin, Erwan; Wendt, Kerstin; Wieczorek, Dagmar; Wollnik, Bernd; Baquero-Montoya, Carolina; Pié, Juan; Deardorff, Matthew A; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J

    2017-03-01

    The coordinated tissue-specific regulation of gene expression is essential for the proper development of all organisms. Mutations in multiple transcriptional regulators cause a group of neurodevelopmental disorders termed "transcriptomopathies" that share core phenotypical features including growth retardation, developmental delay, intellectual disability and facial dysmorphism. Cornelia de Lange syndrome (CdLS) belongs to this class of disorders and is caused by mutations in different subunits or regulators of the cohesin complex. Herein, we report on the clinical and molecular characterization of seven patients with features overlapping with CdLS who were found to carry mutations in chromatin regulators previously associated to other neurodevelopmental disorders that are frequently considered in the differential diagnosis of CdLS. The identified mutations affect the methyltransferase-encoding genes KMT2A and SETD5 and different subunits of the SWI/SNF chromatin-remodeling complex. Complementary to this, a patient with Coffin-Siris syndrome was found to carry a missense substitution in NIPBL. Our findings indicate that mutations in a variety of chromatin-associated factors result in overlapping clinical phenotypes, underscoring the genetic heterogeneity that should be considered when assessing the clinical and molecular diagnosis of neurodevelopmental syndromes. It is clear that emerging molecular mechanisms of chromatin dysregulation are central to understanding the pathogenesis of these clinically overlapping genetic disorders.

  6. Clinical Use of Diuretics in Heart Failure, Cirrhosis, and Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    Ahmed Hassaan Qavi

    2015-01-01

    Full Text Available Diuretics play significant role in pharmacology and treatment options in medicine. This paper aims to review and evaluate the clinical use of diuretics in conditions that lead to fluid overload in the body such as cardiac failure, cirrhosis, and nephrotic syndrome. To know the principles of treatment it is essential to understand the underlying pathophysiological mechanisms that cause the need of diuresis in the human body. Various classes of diuretics exist, each having a unique mode of action. A systemic approach for management is recommended based on the current guidelines, starting from thiazides and proceeding to loop diuretics. The first condition for discussion in the paper is cardiac failure. Treatment of ascites in liver cirrhosis with spironolactone as the primary agent is highlighted with further therapeutic options. Lastly, management choices for nephrotic syndrome are discussed and recommended beginning from basic sodium restriction to combined diuretic therapies. Major side effects are discussed.

  7. Infant feeding and components of the metabolic syndrome: findings from the European Youth Heart Study

    DEFF Research Database (Denmark)

    Lawlor, D.A.; Riddoch, C.J.; Page, A.S.

    2005-01-01

    -response in this association with decreasing mean systolic blood pressure across categories from never exclusively breast fed to breast fed for more than six months. Exclusive breast feeding was not associated with other components of the metabolic syndrome. Results were similar when examined separately in each country......Aims: To assess the associations of type and duration of infant feeding with components of the metabolic syndrome in children aged 9 and 15. Methods: A total of 2192 randomly selected schoolchildren aged 9 and 15 years from Estonia (n = 1174) and Denmark (n = 1018) were studied. Insulin resistance...... (homoeostasis model assessment), triglyceride levels, high density lipoprotein cholesterol, and systolic blood pressure were measured. Results: Children who had ever been exclusively breast fed had lower systolic blood pressures than those who were not. With full adjustment for age, sex, country, birth weight...

  8. 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.

  9. Your heart on a chip: iPSC-based modeling of Barth-syndrome-associated cardiomyopathy.

    Science.gov (United States)

    Zweigerdt, Robert; Gruh, Ina; Martin, Ulrich

    2014-07-03

    Disease-specific induced pluripotent stem cells (iPSCs) are invaluable tools for studying genetic disorders in a dish. A recent paper by Wang et al. (2014) powerfully combines analysis of human iPSCs with genome editing and tissue engineering, in conjunction with biochemical and physiological assays, to provide insights into Barth-syndrome-associated cardiomyopathy. Copyright © 2014 Elsevier Inc. All rights reserved.

  10. X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene.

    Science.gov (United States)

    Massin, Nathalie; Pêcheux, Christophe; Eloit, Corinne; Bensimon, Jean-Louis; Galey, Julie; Kuttenn, Frédérique; Hardelin, Jean-Pierre; Dodé, Catherine; Touraine, Philippe

    2003-05-01

    Kallmann syndrome (KS) is characterized by the association of hypogonadotropic hypogonadism and anosmia. The gene underlying the X chromosome-linked form of the disease, KAL-1, consists of 14 coding exons. It encodes a glycoprotein, anosmin-1, which is involved in the embryonic migration of GnRH-synthesizing neurons and the differentiation of the olfactory bulbs. We describe herein the clinical heterogeneity in three affected brothers who carry a large deletion (exons 3-13) in KAL-1. All three had a history of hypogonadotropic hypogonadism with delayed puberty. Although brain magnetic resonance imaging showed hypoplastic olfactory bulbs in the three siblings, variable degrees of anosmia/hyposmia were shown by olfactometry. In addition, these brothers had different phenotypic anomalies, i.e. unilateral renal aplasia (siblings B and C), high-arched palate (sibling A), brachymetacarpia (sibling A), mirror movements (siblings A and B), and abnormal eye movements (sibling C). Last but not least, sibling A suffered from a severe congenital hearing impairment, a feature that had been reported in KS but had not yet been ascribed unambiguously to the X-linked form of the disease. The variable phenotype, both qualitatively and quantitatively, in this family further emphasizes the role of putative modifier genes, and/or epigenetic factors, in the expressivity of the X-linked KS.

  11. Is primary prevention of rheumatic fever the missing link in the control of rheumatic heart disease in Africa?

    Science.gov (United States)

    Karthikeyan, Ganesan; Mayosi, Bongani M

    2009-08-25

    Rheumatic fever and rheumatic heart disease continue to be major public health problems in the developing world, particularly in the countries of sub-Saharan Africa. Because of its cost effectiveness, secondary prophylaxis is advocated as the principal means of disease prevention and control. However, in developing countries, valvular damage, due to earlier, unrecognized episodes of rheumatic fever, has already occurred by the time secondary prophylaxis is instituted. Secondary prophylaxis cannot reduce the incidence of new cases of rheumatic fever and has not been shown to alter the natural history of rheumatic valvular disease. Experience from several regions of the world suggests that incorporation of a strategy of primary antibiotic prophylaxis into a comprehensive program for disease control can reduce the incidence of rheumatic fever and rheumatic heart disease. In this article, we argue that a strategy of primary antibiotic prophylaxis, with appropriate modifications, can be successfully implemented in resource-poor settings across the world and should be a key component of any rheumatic heart disease control program. This, we believe, is essential for reducing the global burden of rheumatic heart disease.

  12. 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

    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...... fissures, thin upper lip, and ear tags. Very distal deletions including region LCR22-6 to LCR22-7 encompassing the SMARCB1-gene are associated with an increased risk of malignant rhabdoid tumors....

  13. Progressive neurodegenerative syndrome in a patient with X-linked agammaglobulinemia receiving intravenous immunoglobulin therapy.

    Science.gov (United States)

    Sag, Aslihan Taskiran; Saka, Esen; Ozgur, Tuba Turul; Sanal, Ozden; Ayvaz, Deniz Cagdas; Elibol, Bulent; Kurne, Asli Tuncer

    2014-09-01

    A progressive encephalopathy of unknown etiology has been described in patients with primary immunodeficiency disorders. In this report, we characterize the clinical features of this progressive neurodegenerative dementing disorder in a young man with Bruton agammaglobulinemia, through neuropsychological tests and a video sequence. The clinical course of the encephalopathy seems rather uniform: Cognition, especially frontal lobe function, is affected in the early stages, and some patients develop movement disorders. The syndrome causes severe cognitive and physical disability, and can eventually be fatal. The autoimmunity results from dysregulated immune responses, but the underlying mechanism has not yet been fully explained.

  14. 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.

  15. Barth Syndrome (BTHS)

    Science.gov (United States)

    ... may be prescribed to control heart problems. The dietary supplement carnitine has aided some children with Barth syndrome but ... may be prescribed to control heart problems. The dietary supplement carnitine has aided some children with Barth syndrome but ...

  16. Apheresis in high risk antiphospholipid syndrome pregnancy and autoimmune congenital heart block.

    Science.gov (United States)

    Ruffatti, Amelia; Favaro, Maria; Brucato, Antonio; Ramoni, Veronique; Facchinetti, Myriam; Tonello, Marta; Del Ross, Teresa; Calligaro, Antonia; Hoxha, Ariela; Grava, Chiara; De Silvestro, Giustina

    2015-12-01

    In the first part a prospective cohort study was reported to evaluate the efficacy and safety of a treatment protocol including plasma exchange (PE) or PE plus intravenous immunoglobulins (IVIG) or immunoadsorption (IA) plus IVIG administered in addition to conventional therapy to 22 pregnant women with high-risk APS. The results indicate that PE or IA treatments administered along with IVIG and conventional antithrombotic therapy could be a valuable and safe therapeutic option in pregnant APS women with triple antiphospholipid antibody positivity along with a history of thrombosis and/or one or more severe pregnancy complications. In the second part the efficacy and safety of PE combined with IVIG and steroids were evaluated for the treatment of 10 patients with autoimmune congenital heart block (CHB) by comparing maternal features, pregnancy outcome and side effects with those of 24 CHB patients treated with steroids only. The patients treated with the combined therapy showed a statistically significant regression of 2nd degree blocks, an increase in heart rate at birth and a significantly lower prevalence of pacing in the first year of life. Moreover, no side effects were observed except for a few steroid-related events. If these results are confirmed by large-scale studies, the apheretic procedures could lead to improved outcomes in the treatment of these devastating diseases.

  17. Mechanisms of Chronic State of Inflammation as Mediators That Link Obese Adipose Tissue and Metabolic Syndrome

    Science.gov (United States)

    Fuentes, Eduardo; Fuentes, Francisco; Badimon, Lina; Palomo, Iván

    2013-01-01

    The metabolic syndrome is a cluster of cardiometabolic alterations that include the presence of arterial hypertension, insulin resistance, dyslipidemia, and abdominal obesity. Obesity is associated with a chronic inflammatory response, characterized by abnormal adipokine production, and the activation of proinflammatory signalling pathways resulting in the induction of several biological markers of inflammation. Macrophage and lymphocyte infiltration in adipose tissue may contribute to the pathogenesis of obesity-mediated metabolic disorders. Adiponectin can either act directly on macrophages to shift polarization and/or prime human monocytes into alternative M2-macrophages with anti-inflammatory properties. Meanwhile, the chronic inflammation in adipose tissue is regulated by a series of transcription factors, mainly PPARs and C/EBPs, that in conjunction regulate the expression of hundreds of proteins that participate in the metabolism and storage of lipids and, as such, the secretion by adipocytes. Therefore, the management of the metabolic syndrome requires the development of new therapeutic strategies aimed to alter the main genetic pathways involved in the regulation of adipose tissue metabolism. PMID:23843680

  18. Is prolactin the missing link in adipose tissue dysfunction of polycystic ovary syndrome patients?

    Science.gov (United States)

    Albu, Alice; Florea, Suzana; Fica, Simona

    2016-01-01

    The aims of the study were to evaluate whether adiposity was among the determinants of circulating prolactin levels and to determine whether serum prolactin independently predicted metabolic abnormalities in patients with polycystic ovary syndrome (PCOS). A total of 322 PCOS patients with normal serum prolactin levels were recruited between January 2007 and January 2014. Anthropometric, metabolic, and hormonal parameters were measured in all of the patients. HOMA-IR was calculated as an index of insulin resistance. Serum prolactin was negatively correlated with age (p prolactin after adjustment for age, leptin, and anthropometrical adiposity parameters. Of the adiposity parameters, only WHR and VAI were independent predictors of serum prolactin after adjustment for adiponectin. Circulating prolactin was also negatively correlated with fasting glycemia (only in patients with normal glucose metabolism, p = 0.037) and was inversely correlated with the presence of metabolic syndrome (p prolactin level was related to adipose tissue quantity and function, and adiponectin was a possible mediator of this relationship. Low serum prolactin levels were associated with an unfavorable metabolic profile, but this association seemed to be due to the complex interplay among prolactin, adiposity, and insulin resistance rather than to a direct metabolic effect of prolactin.

  19. The dangerous link between childhood and adulthood predictors of obesity and metabolic syndrome.

    Science.gov (United States)

    Faienza, Maria Felicia; Wang, David Q H; Frühbeck, Gema; Garruti, Gabriella; Portincasa, Piero

    2016-03-01

    The purpose of this review is to evaluate whether some risk factors in childhood work as significant predictors of the development of obesity and the metabolic syndrome in adulthood. These factors include exposures to risk factors in the prenatal period, infancy and early childhood, as well as other socio-demographic variables. We searched articles of interest in PubMed using the following terms: 'predictors AND obesity OR Metabolic syndrome AND (children OR adolescents) AND (dyslipidemia OR type 2 diabetes OR atherosclerosis OR hypertension OR hypercholesterolemia OR cardiovascular disease)' AND genetic OR epigenetic. Maternal age, smoking and weight gain during pregnancy, parental body mass index, birth weight, childhood growth patterns (early rapid growth and early adiposity rebound), childhood obesity and the parents' employment have a role in early life. Furthermore, urbanization, unhealthy diets, increasingly sedentary lifestyles and genetic/epigenetic variants play a role in the persistence of obesity in adulthood. Health promotion programs/agencies should consider these factors as reasonable targets to reduce the risk of adult obesity. Moreover, it should be a clinical priority to correctly identify obese children who are already affected by metabolic comorbidities.

  20. A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene

    Science.gov (United States)

    Meunier, Isabelle; Bocquet, Béatrice; Labesse, Gilles; Zeitz, Christina; Defoort-Dhellemmes, Sabine; Lacroux, Annie; Mauget-Faysse, Martine; Drumare, Isabelle; Gamez, Anne-Sophie; Mathieu, Cyril; Marquette, Virginie; Sagot, Lola; Dhaenens, Claire-Marie; Arndt, Carl; Carroll, Patrick; Remy-Jardin, Martine; Cohen, Salomon Yves; Sahel, José-Alain; Puech, Bernard; Audo, Isabelle; Mrejen, Sarah; Hamel, Christian P.

    2016-01-01

    To revisit the autosomal dominant Sorsby fundus dystrophy (SFD) as a syndromic condition including late-onset pulmonary disease. We report clinical and imaging data of ten affected individuals from 2 unrelated families with SFD and carrying heterozygous TIMP3 mutations (c.572A > G, p.Y191C, exon 5, in family 1 and c.113C > G, p.S38C, exon 1, in family 2). In family 1, all SFD patients older than 50 (two generations) had also a severe emphysema, despite no history of smoking or asthma. In the preceding generation, the mother died of pulmonary emphysema and she was blind after the age of 50. Her two great-grandsons (<20 years), had abnormal Bruch Membrane thickness, a sign of eye disease. In family 2, eye and lung diseases were also associated in two generations, both occurred later, and lung disease was moderate (bronchiectasis). This is the first report of a syndromic SFD in line with the mouse model uncovering the role of TIMP3 in human lung morphogenesis and functions. The TIMP3 gene should be screened in familial pulmonary diseases with bronchiectasis, associated with a medical history of visual loss. In addition, SFD patients should be advised to avoid tobacco consumption, to practice sports, and to undergo regular pulmonary examinations. PMID:27601084

  1. Birth weight and polycystic ovary syndrome in adult life: is there a causal link?

    Directory of Open Access Journals (Sweden)

    Stavroula A Paschou

    Full Text Available Several studies have demonstrated associations of birth weight with metabolic and reproductive abnormalities in adults. The aim of this study was to investigate the birth weight in women with PCOS and its correlation with clinical and biochemical characteristics of the syndrome.We studied 288 women with PCOS according to the NIH criteria and 166 women with normal cycle and without clinical hyperandrogenism. Birth weight and anthropometric characteristics were recorded, and levels of serum androgens, SHBG, insulin and fasting glucose were measured.Birth weight data were available for 243/288 women with PCOS and age- and BMI-matched 101/166 controls. No differences were found (p> 0.05 in birth weight among women with PCOS and normal controls. Birth weight of PCOS women was negatively correlated with DHEAS levels (p = 0.031, r = -0.143 and positively correlated with waist circumference (p 4.500 gr. No statistically significant differences were observed in the distribution percentages between PCOS women and controls. (A. 7% vs 7.9%, B. 26.8% vs 20.8%, C. 39.1% vs 48.5%, D. 21.4% vs 20.8%, E. 4.9% vs 2%, F. 0.8% vs 0%, (in all comparisons, p> 0.05.Women with PCOS do not differ from controls in birth weight distribution. However, birth weight may contribute to subtypes of the syndrome that are characterized by adrenal hyperandrogenism and central obesity.

  2. 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.

  3. [X-linked lymphoproliferative syndrome type 1 complicated with secondary hemophagocytic lymphohistiocytosis and ileal perforation: case report and literature review].

    Science.gov (United States)

    Xiao, L; Guan, X M; Meng, Y; Zhao, X D; Xian, Y; An, Y F; Yu, J

    2016-04-01

    To analyze and summarize the clinical characteristics, laboratory tests and treatment of X-linked lymphoproliferative syndrome type 1 (XLP-1). A retrospective study was done in 2012 on an XLP-1 patient to collect the data on clinical manifestation, laboratory examination, gene and protein expression, complications and prognosis. Literatures were reviewed in Pubmed with the key word"X-linked lymphoproliferative syndrome". The patient with persistent high fever, jaundice, abdominal distension, hepatosplenomegaly and lymphadenectasis, rash and suspicious positive family history; the patient eventually died of hemophagocytic lymphohistiocytosis (HLH), with intestinal perforation, intestinal infection and bleeding after being infected with EB virus. This patient with SH2D1A gene exon 1 large fragment of the coding region of the nucleotide deletion and insertion mutations causing missense mutations (p.Leu25Lys) and nonsense mutations (stop codon TAG was inserted after missense mutation so that the protein encoded by the early termination of the 25 amino acids), which led to SAP protein missing. The expression of SAP in his mother was also partly missing. Retrieval of reports on XLP-1 was conducted through literature search (included totally 157 cases) at home and abroad, positive family history accounted for 60.6%(40/66); lymphoma incidence accounted for 49.7%(72/145); low gamma globulin occurred in 24.8%(39/157) of cases; secondary HLH ratio accounted for 43.3%(68/157); XLP-1 in patients with hemorrhagic enteritis and gastritis was low, accounted for only 2.6%(3/116). XLP-1 patients occasionally develop necrotic enteritis complicated with ileal perforation.XLP-1 with large fragment deletion of SH2D1A gene might be associated with serious gastrointestinal manifestations.

  4. Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome

    Science.gov (United States)

    Bondy, Carolyn; Bakalov, Vladimir K; Cheng, Clara; Olivieri, Laura; Rosing, Douglas R; Arai, Andrew E

    2013-01-01

    Background Congenital heart disease (CHD) is a cardinal feature of X chromosome monosomy, or Turner syndrome (TS). Haploinsufficiency for gene(s) located on Xp have been implicated in the short stature characteristic of the syndrome, but the chromosomal region related to the CHD phenotype has not been established. Design We used cardiac MRI to diagnose cardiovascular abnormalities in four non-mosaic karyotype groups based on 50-metaphase analyses: 45,X (n=152); 46,X,del(Xp) (n=15); 46,X,del(Xq) (n=4); and 46,X,i(Xq) (n=14) from peripheral blood cells. Results Bicuspid aortic valves (BAV) were found in 52/152 (34%) 45,X study subjects and aortic coarctation (COA) in 19/152 (12.5%). Isolated anomalous pulmonary veins (APV) were detected in 15/152 (10%) for the 45,X study group, and this defect was not correlated with the presence of BAV or COA. BAVs were present in 28.6% of subjects with Xp deletions and COA in 6.7%. APV were not found in subjects with Xp deletions. The most distal break associated with the BAV/COA trait was at cytologic band Xp11.4 and ChrX:41,500 000. One of 14 subjects (7%) with the 46,X,i(Xq) karyotype had a BAV and no cases of COA or APV were found in this group. No cardiovascular defects were found among four patients with Xq deletions. Conclusions The high prevalence of BAV and COA in subjects missing only the X chromosome short arm indicates that haploinsufficiency for Xp genes contributes to abnormal aortic valve and aortic arch development in TS. PMID:23825392

  5. Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation.

    Science.gov (United States)

    Wu, Gang; Hitchen, Paul G; Panico, Maria; North, Simon J; Barbouche, Mohamed-Ridha; Binet, Daniel; Morris, Howard R; Dell, Anne; Haslam, Stuart M

    2016-06-01

    Glycans serve as important regulators of antibody activities and half-lives. IgE is the most heavily glycosylated antibody, but in comparison to other antibodies little is known about its glycan structure function relationships. We therefore describe the site specific IgE glycosylation from a patient with a novel hyper IgE syndrome linked to mutations in PGM3, which is an enzyme involved in synthesizing UDP-GlcNAc, a sugar donor widely required for glycosylation. A two-step method was developed to prepare two IgE samples from less than 1 mL of serum collected from a patient with PGM3 mutation and a patient with atopic dermatitis as a control subject. Then, a glycoproteomic strategy was used to study the site-specific glycosylation. No glycosylation was found at Asn264, whilst high mannose glycans were only detected at Asn275, tri-antennary glycans were exclusively observed at Asn99 and Asn252, and non-fucosylated complex glycans were detected at Asn99. The results showed similar glycosylation profiles between the two IgE samples. These observations, together with previous knowledge of IgE glycosylation, imply that IgE glycosylation is similarly regulated among healthy control, allergy and PGM3 related hyper IgE syndrome.

  6. Association of endothelial nitric oxide synthase promoter region (T-786C gene polymorphism with acute coronary syndrome and coronary heart disease

    Directory of Open Access Journals (Sweden)

    Kılıçgedik M

    2008-02-01

    Full Text Available Abstract Background Nitric oxide (NO is an endothelium derived relaxing factor (EDRF which has an important role for regulating the heart-vessel physiology. The objective of this study was to evaluate the effects of the eNOS T-786C polymorphism on lipid parameters and the development of acute coronary syndrome (ACS and coronary heart disease (CHD for the first time in a Turkish study group. We have analyzed the genotype frequencies of the T-786C polymorphism of the eNOS gene in 10 ACS patients (5 men, 5 women, 20 CHD patients (14 men, 6 women, and 31 controls (10 men, 21 women, who were angiographically proven to have normal coronaries. Results The demographic, biochemical and left ventricule systolic dysfunction data of the ACS, CHD patients and controls were analyzed as a function of eNOS T-786C genotypes. The eNOS gene T-786C polymorphism frequencies for T/T, C/T and C/C genotypes were respectively 10%, 40%, 50% in subjects with ACS; 75%, 20%, 5% in subjects with CHD and 67.7%, 25.8%, 6.5% in the control group. Significant difference was observed in genotype frequencies between the study groups for T-786C polymorphism (p = 0.001. The CC genotype frequency was found to be the most prevalent in ACS group in comparison to CHD and control groups (p = 0.001. TT was the most frequently observed genotype in both CHD patients and controls (p = 0.001. Left ventricule systolic dysfunction frequency was found to be highest in C/T genotype carriers (66.7% in patients (ACS+CHD. None of the patients with LVSD were carrying the normal genotype (T/T. The eNOS T-786C polymorphism was not found to be effective over any analyzed lipid variable in patients (ACS+CHD. The HDL-cholesterol levels were found to be lower in CHD group were compared to controls (p Conclusion The significantly high frequency of eNOS -786C/C genotype in ACS patients than in those of controls, indicate the genotype association with ACS. The finding of significantly high frequency of T

  7. Associations of Guideline Recommended Medications for Acute Coronary Syndromes With Fall-Related Hospitalizations and Cardiovascular Events in Older Women With Ischemic Heart Disease.

    Science.gov (United States)

    Peeters, Geeske; Tett, Susan E; Hollingworth, Samantha A; Gnjidic, Danijela; Hilmer, Sarah N; Dobson, Annette J; Hubbard, Ruth E

    2017-02-01

    Guidelines for acute coronary syndrome recommend statins, β-blockers, angiotensin-converting-enzyme inhibitors or renin-angiotensin system blockers, and antiplatelet agents for the secondary prevention of cardiovascular events. The aim was to examine associations between guideline recommended medications and fall-related hospitalizations and cardiovascular events in robust and frail older women. 2002-2011 surveys from the Australian Longitudinal Study on Women's Health linked with administrative hospital, pharmaceutical and death registry data (2003-mid-2011) were used. Eight hundred eighty-five women (82.7±2.7 years, range 76-90) had prior admission for ischemic heart disease and ≥1 claims for any of the four medication classes. Four hundred thirteen (46.7%) were robust and 472 (53.3%) were frail. Fall-related admissions; cardiovascular event-related admissions or death; and cardiovascular death were recorded. Associations between each of the exposures and outcomes were analyzed using survival analyses with noncardiovascular death as a competing risk. There were 192 fall-related admissions and 314 cardiovascular events including 82 deaths. Using four recommended classes (compared to using one) was associated with increased risks of fall-related admissions (hazard ratio [HR] = 2.57, 95% confidence interval [CI] = 1.24-5.33), but not with cardiovascular events (HR = 1.41, CI = 0.97-2.05) or cardiovascular death (HR = 0.68, CI = 0.35-1.34). Associations for fall-related admissions were stronger in frail participants (HR = 5.46, CI = 1.34-22.30) than robust (HR = 1.37, CI = 0.48-3.95). In older women with ischemic heart disease, the combination of the four recommended medication classes was associated with increased risk of falls, particularly among frail women, with no statistically significant gain in cardiovascular health. The risks of falls and consequential morbidity in women over 75 needs consideration when prescribing medications after myocardial infarction

  8. Metabolic syndrome in patients with atrial fibrillation in the absence of structural heart disease from a tertiary hospital in China

    Institute of Scientific and Technical Information of China (English)

    TANG Ri-bo; MA Chang-sheng; GAO Ling-yun; DONG Jian-zeng; LIU Xiao-hui; LIU Xing-peng; WU Jia-hui; LONG De-yong; YU Rong-hui; DU Xin

    2009-01-01

    Background Metabolic syndrome (MetS) and atrial fibrillation (AF) are causally related. This study aimed to determine the prevalence of MetS in patients with AF in the absence of structural heart disease from a tertiary hospital in China.Methods In a single center, 741 inpatients with AF in the absence of structural heart disease prior to catheter ablation were retrospectively reviewed. Among them, 588 (79.4%) patients had paroxysmal AF. Subgroup analyses were performed in paroxysmal AF and persistent/permanent AF.Results MetS was found in 343 (46.3%) patients (200 males, 143 females); 0, 1, 2, 3, 4, 5 components of the MetS were found in 59 (8.0%), 140 (18.9%), 199 (26.9%), 203 (27.4%), 103 (13.9%) and 37 (5.0%) patients, respectively. The prevalences of overweight/obesity, high blood pressure, high glucose level, high triglyceride level and low high density lipoproteins cholesterol level were 53.8%, 47.6%, 23.2%, 40.6% and 72.1%, respectively. The prevalence of MetS was not significantly different between the paroxysmal AF group and the persistent/permanent AF group (44.6% vs 52.9%,P=0.064). The five components of MetS except overweight/obesity (69.3% vs 49.8%, P <0.001) were not significantly different between the aforementioned two groups. The left atrium diameter increased with the sum of the MetS components. The left atrium diameter in the MetS group was significantly higher than that in the non-MetS group both in patients with paroxysmal AF and in patients with persistent/permanent AF.Conclusions The prevalence of MetS in patients with AF prior to catheter ablation is high. Further study and prevention are needed.

  9. Abdominal admittance helps to predict the amount of fluid accumulation in patients with acute heart failure syndromes.

    Science.gov (United States)

    Taniguchi, Tatsunori; Hamano, Go; Koide, Masao; Hirooka, Keiji; Koretsune, Yukihiro; Kusuoka, Hideo; Ohtani, Tomohito; Sakata, Yasushi; Yasumura, Yoshio

    2016-04-01

    Predicting fluid volume that needs to be removed in acute heart failure syndromes (AHFS) patients remains challenging. Thoracic admittance (TA), the reciprocal of thoracic impedance measured by bioelectrical impedance, reflects the amount of fluid in the thorax. Abdominal organs play an important role in AHFS as systemic fluid reservoirs. We investigated the relationship between abdominal admittance (AA) at the time of admission for AHFS and net fluid loss (NFL) during hospitalization. Sixty-two consecutive patients hospitalized for AHFS [age 71±10 years, left ventricular ejection fraction (LVEF) 39±17%] were studied. The admittance values, i.e. the reciprocals of the impedance values, were derived using a BioZ(®) (CardioDynamics, San Diego, CA, USA). The change in weight from admission to discharge was used as a surrogate of amount of NFL. At the time of admission, a significant correlation was detected between TA and AA (r=0.46, p=0.0001). TA at admission was significantly correlated with the LV structural variables (end-diastolic dimension and end-systolic dimension), and serum sodium level. AA at admission was significantly correlated with New York Heart Association (NYHA) class and plasma BNP, and also correlated with LVEF and variables related to systemic congestion [minimal inferior vena cava (IVC) diameter and tricuspid regurgitation grade]. Neither TA nor AA values were significantly correlated with weight at admission. During hospitalization, TA and AA declined from 44±8kΩ(-1) to 36±6kΩ(-1) (pfluid volume to be removed in patients with AHFS. Copyright © 2015 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.

  10. A Potential Link between the C5a Receptor 1 and the β1-Adrenoreceptor in the Mouse Heart.

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    Kuan Hua Khor

    Full Text Available Inflammation may contribute to the pathogenesis of specific cardiovascular diseases, but it is uncertain if mediators released during the inflammatory process will affect the continued efficacy of drugs used to treat clinical signs of the cardiac disease. We investigated the role of the complement 5a receptor 1 (C5aR1/CD88 in the cardiac response to inflammation or atenolol, and the effect of C5aR1 deletion in control of baseline heart rate in an anesthetized mouse model.An initial study showed that PMX53, an antagonist of C5aR1 in normal C57BL6/J (wild type, WT mice reduced heart rate (HR and appeared to have a protective effect on the heart following induced sepsis. C5aR1 knockout (CD88-/- mice had a lower HR than wild type mice, even during sham surgery. A model to assess heart rate variability (HRV in anesthetized mice was developed to assess the effects of inhibiting the β1-adrenoreceptor (β1-AR in a randomized crossover study design.HR and LF Norm were constitutively lower and SDNN and HF Norm constitutively higher in the CD88-/- compared with WT mice (P 0.05, except for the reduced LF/HF (Lower frequency/High frequency ratio (P< 0.05 at 60 min post-atenolol, suggesting increased parasympathetic tone of the heart due to the effect of atenolol administration. The HR of the WT mice were lower post atenolol compared to the CD88-/- mice (P = 0.001 but the HRV of CD88-/- mice were significantly increased (P< 0.05, compared with WT mice.Knockout of the C5aR1 attenuated the effect of β1-AR in the heart, suggesting an association between the β1-AR and C5aR1, although further investigation is required to determine if this is a direct or causal association.

  11. Twenty years of vasoplegic syndrome treatment in heart surgery. Methylene blue revised

    Science.gov (United States)

    Evora, Paulo Roberto Barbosa; Alves, Lafaiete; Ferreira, Cesar Augusto; Menardi, Antônio Carlos; Bassetto, Solange; Rodrigues, Alfredo José; Scorzoni, Adilson; Vicente, Walter Vilella de Andrade

    2015-01-01

    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. PMID:25859872

  12. 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.

  13. Relationship between metabolic syndrome and coronary heart disease in Iranian population; the Tehran lipid and glucose study

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    Hadaegh F

    2008-11-01

    Full Text Available "nBackground: Although metabolic syndrome (METs is receiving attention from physicians, data on the syndrome's association with coronary heart disease (CHD in the Iranian population are limited. This study was designed to determine the association of different definitions of METs and its components with CHD. "nMethods: Logistic regression analysis was used to analyze data from 5981 subjects aged ≥30 years. METs definitions by the International Diabetes Federation (IDF, the Adult Treatment Panel (ATP III and the WHO for CHD were used in three models: model 1 an age adjusted model, model 2 adjusted for age, smoking status, premature history of CHD and LDL-cholesterol and model 3 adjusted for the mentioned variables plus the METs components. "nResults: METs as delineated by all three definitions was associated with CHD in models 1 and 2. In model 2, METs was most closely associated with CHD in men, as defined by the WHO [2.3 (1.8-3] and in women by the ATP III definition [1.6 (1.3-2]. In model 3, METs lost its association with CHD. However, in men high fasting plasma glucose and high blood pressure plus obesity (by the WHO definition and in women high blood pressure plus high waist circumference (by the ATP III definition, obesity and glucose domain (by the WHO definition remained associated with CHD. "nConclusions: In Iranian men and women, all three definitions of METs were associated with CHD when considering the conventional risk factors. After further adjustments for the components of METs, none of these definitions showed an association with CHD and only high blood pressure correlated with CHD in both sexes for all definitions.

  14. The association between HDL particle concentration and incident metabolic syndrome in the multi-ethnic Dallas Heart Study.

    Science.gov (United States)

    Mani, Preethi; Ren, Hao-Yu; Neeland, Ian J; McGuire, Darren K; Ayers, Colby R; Khera, Amit; Rohatgi, Anand

    2016-12-12

    Metabolic syndrome (MetS) increases atherosclerotic cardiovascular disease (ASCVD) risk. Low HDL cholesterol (HDL-C) is a diagnostic criterion of MetS and a major ASCVD risk factor. HDL particle concentration (HDL-P) associates with incident ASCVD independent of HDL-C, but its association with incident MetS has not been studied. We hypothesized that HDL-P would be inversely associated with incident metabolic syndrome independent of HDL-C and markers of adiposity and insulin resistance. HDL-P was measured by NMR and visceral fat by MRI in participants of the Dallas Heart Study, a probability-based population sample of adults age 30-65. Participants with prevalent MetS, DM, CVD, and any systemic illlness were excluded. Incident MetS as defined by NCEP ATPIII criteria was determined in all participants after median follow-up period of 7.0 years. Among 1120 participants without DM or MetS at baseline (57% women, 45% Black, mean age 43), 22.8% had incident MetS at follow-up. HDL-P and HDL-C were modestly correlated (r=0.54, pHDL-C ratio, and HOMA-IR, the lowest quartile of HDL-P was associated with a 2-fold increased risk of incident MetS (OR 2.1, 95%CI 1.4-3.1; p=0.0003). Low HDL-P is independently associated with incident MetS after adjustment for traditional risk factors, lipid parameters, adiposity, inflammation, and markers of insulin resistance. Further studies are warranted to validate these findings and elucidate the mechanisms underpinning this association. Copyright © 2016. Published by Elsevier Ltd.

  15. Inverse association of N-terminal pro-B-type natriuretic peptide with metabolic syndrome in patients with congestive heart failure.

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    Huai-Ren Chang

    Full Text Available BACKGROUND: Metabolic syndrome has been shown to be associated with lower levels of plasma N-terminal pro-B-type natriuretic peptide (Nt-proBNP in the general population. We sought to elucidate the relationship between Nt-proBNP and components of metabolic syndrome in patients with congestive heart failure (CHF. METHODS: Fasting blood samples were obtained from 93 patients in our institution. Plasma levels of Nt-proBNP and other biochemical data were measured. The New York Heart Association (NYHA classification system (I-IV was used to define the functional capacity of CHF. Metabolic syndrome and its components were defined using diagnostic criteria from the International Diabetes Federation. RESULTS: Forty-nine patients (52.7% had CHF. There was a positive correlation between plasma Nt-proBNP levels and NYHA functional capacity in CHF patients. Plasma Nt-proBNP levels increased significantly with each increasing NYHA class of the disease. The prevalence of metabolic syndrome in CHF patients was higher than that in patients without CHF. Most importantly, we found that plasma Nt-proBNP levels were lower in CHF patients with metabolic syndrome attributable to inverse relationships between plasma Nt-proBNP and body mass index (β = -0.297, plasma triglyceride (β = -0.286 and homeostasis model assessment of insulin resistance (HOMA-IR; β = -0.346. Fasting glucose to insulin ratio (FGIR, an insulin sensitivity index was positively associated with plasma Nt-proBNP levels (β = 0.491, and was the independent predictor of plasma Nt-proBNP levels in CHF patients. CONCLUSIONS: Plasma Nt-proBNP levels are inversely associated with metabolic syndrome in CHF patients. Reduced plasma Nt-proBNP levels in CHF patients may lead to impaired lipolysis and metabolic function, and may contribute to the development of metabolic syndrome in CHF patients.

  16. Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome).

    Science.gov (United States)

    Kampmann, Christoph; Abu-Tair, Tariq; Gökce, Seyfullah; Lampe, Christina; Reinke, Jörg; Mengel, Eugen; Hennermann, Julia B; Wiethoff, Christiane M

    2016-01-01

    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

  17. A clinical perspective of the link between metabolic syndrome and hepatocellular carcinoma

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    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

  18. CLINICAL SIGNIFICANCE OF ANEMIC SYNDROME IN PATIENTS WITH CHRONIC HEART FAILURE

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    V. N. Larina

    2010-01-01

    Full Text Available Aim. To evaluate the anemia prevalence and its impact on chronic heart failure (CHF course.Methods. A total of 228 outpatients (86 women and 196 men, aged 39-85 y.o. with clinically stable CHF (II-IV functional class according to NYHA were studied. Anemia was defined by the WHO criteria (hemoglobin levels <13 g/dl in men and <12 g/dl in women.Results. Anemia was found in 18,8% of CHF patients. In all the cases anemia was mild (hemoglobin levels >9 g/dl. Anemia rate did not differ significantly in patients with reduced (18,5% and preserve (19,1% or left ventricle ejection fraction (LV EF (р=0,743. Anemic and non anemic patients were similar in terms of gender, NYHA functional class, heart rate and LV EF. The rate of anemic patients increased significantly up to 35,8% in creatinine clearance <60ml/min. Anemic patients were older (p<0,001, had longer CHF duration (p=0,014, lower body mass index (p=0,041, had diabetes more often (p=0,004, χ2=8,01 in comparison with non anemic patients. Deficiency of iron, vitamin B12 or folic acid was a reason of anemia in 35,8%, 9,4% and 15,1% of patients, respectively. Anemia reason was not detected in 39,7% of patients.Conclusion. Anemia in patients with CHF is associated with age, impaired renal function, diabetes and high hospitalization rate because of CHF deterioration.

  19. Healing the diabetic heart: modulation of cardiometabolic syndrome through peroxisome proliferator activated receptors (PPARs).

    Science.gov (United States)

    Huang, Tom Hsun-Wei; Roufogalis, Basil D

    2012-06-01

    Cardiometabolic syndrome is a mixture of interrelated risk factors predisposing individuals to elevated risk of atherosclerotic cardiovascular disease and type 2 diabetes mellitus. Nuclear receptors, specifically peroxisome proliferator-activated receptors (PPARs), were identified to play a pivotal role in the regulation of metabolic homeostasis. However, with rosiglitazone currently under intense scrutiny great concerns have arisen regarding the safety of the thiazolidinedione PPAR-γ agonist family as a whole. This review discusses the current concern with PPAR-γ agonists by exploring if PPARs can still be considered worth pursuing as a viable target for cardiovascular diseases. We examine current research focusing on identifying ligands that are dual and pan-PPAR agonists, selective PPAR-γ modulators, PPAR-β/δ agonists and that are of natural origin.

  20. Right heart failure in acute respiratory distress syndrome: An unappreciated albeit a potential target for intervention in the management of the disease

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    Abhishek Biswas

    2015-01-01

    Full Text Available Mortality from acute respiratory distress syndrome (ARDS has gone down recently. In spite of this trend, the absolute numbers continue to be high even with improvements in ventilator strategies and a better understanding of fluid management with this disease. A possible reason for this could be an under-recognized involvement of the pulmonary vasculature and the right side of the heart in ARDS. The right heart is not designed to function under situations leading to acute elevations in afterload as seen in ARDS, and hence it decompensates. This brief review focuses on the magnitude of the problem, its detection in the intensive care unit, and recognizes the beneficial effect of prone-positioning on the pulmonary vasculature and right heart.

  1. Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis*

    Science.gov (United States)

    Marques, Gabriela Franco; Tonello, Claudio Sampieri; Sousa, Juliana Martins Prazeres

    2014-01-01

    Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. The first manifestation occurs in the early neonatal period and progresses through four stages: vesicular, verruciform, hyperpigmented and hypopigmented. Clinical features also manifest themselves through changes in the teeth, eyes, hair, central nervous system, bone structures, skeletal musculature and immune system. The authors report the case of a patient with cutaneous lesions and histological findings that are compatible with the vesicular stage, emphasizing the importance of early diagnosis and appropriate therapeutic management. PMID:24937825

  2. 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

    Jak-STAT pathway, dysregulated genes important for disturbed immune system (IL4), energy balance (POMC and LEP) and erythropoietin signalling in KS. We present an extended epidemiological study that links KS comorbidities to the molecular level and identify potential causal players in the disease...... of co-expressed modules as well as central hubs and gene dosage perturbed protein complexes in a KS comorbidity network build from known disease proteins and their protein-protein interactions. The systems biology approaches together pointed to novel aspects of KS disease phenotypes including perturbed...

  3. Corneal cross-linking in a child with osteogenesis imperfecta syndrome and keratoconus

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    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.

  4. Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

    NARCIS (Netherlands)

    de la Morena, M Teresa; Leonard, David; Torgerson, Troy R; Cabral-Marques, Otavio; Slatter, Mary; Aghamohammadi, Asghar; Chandra, Sharat; Murguia-Favela, Luis; Bonilla, Francisco A; Kanariou, Maria; Damrongwatanasuk, Rongras; Kuo, Caroline Y; Dvorak, Christopher C.; Meyts, Isabelle; Chen, Karin; Kobrynski, Lisa; Kapoor, Neena; Richter, Darko; DiGiovanni, Daniela; Dhalla, Fatima; Farmaki, Evangelia; Speckmann, Carsten; Español, Teresa; Shcherbina, Anna; Hanson, Imelda Celine; Litzman, Jiri; Routes, John M; Wong, Melanie; Fuleihan, Ramsay; Seneviratne, Suranjith L.; Small, Trudy N; Janda, Ales; Bezrodnik, Liliana; Seger, Reinhard; Raccio, Andrea Gomez; Edgar, J David M; Chou, Janet; Abbott, Jordan K; van Montfrans, Joris; González-Granado, Luis Ignacio; Bunin, Nancy; Kutukculer, Necil; Gray, Paul; Seminario, Gisela; Pasic, Srdjan; Aquino, Victor; Wysocki, Christian; Abolhassani, Hassan; Dorsey, Morna; Cunningham-Rundles, Charlotte; Knutsen, Alan P; Sleasman, John; Costa Carvalho, Beatriz Tavares; Condino-Neto, Antonio; Grunebaum, Eyal; Chapel, Helen; Ochs, Hans D.; Filipovich, Alexandra; Cowan, Mort; Gennery, Andrew; Cant, Andrew; Notarangelo, Luigi D; Roifman, Chaim M

    2017-01-01

    Background X-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency with high morbidity and mortality compared with those seen in healthy subjects. Hematopoietic cell transplantation (HCT) has been considered a curative therapy, but the procedure has inherent complications and might not be

  5. Initial experience with live three-dimensional image overlay for ductal stenting in hypoplastic left heart syndrome.

    Science.gov (United States)

    Goreczny, Sebastian; Morgan, Gareth J; Dryzek, Pawel; Moll, Jadwiga A; Moszura, Tomasz

    2016-12-20

    Precise visualisation of ductal morphology and adjacent vessels is crucial for accurate stent choice and placement during hybrid palliation of hypoplastic left heart syndrome (HLHS). We aimed to describe our initial experience with live three-dimensional reconstruction overlay derived from rotational angiography (RA) for ductal stenting in HLHS. We carried out a retrospective review of ductal stenting in 18 newborns with HLHS, including six patients with 3D reconstruction overlay used to guide the intervention. The median age at the intervention was 20 days (range 13-31 days) and the median weight was 3.25 kg (range 3-4 kg). Eleven RA runs were performed, pre and post stent implantation in five patients and before the intervention in one patient. 3D reconstructions from all RA runs had sufficient image quality to allow stent placement without additional contrast injections. Comparison with 2D angiography-guided ductal stenting showed similar contrast usage, with the 2D angiography patients receiving a higher radiation dose. Three-dimensional rotational angiography provides accurate visualisation of the ductal morphology and nearby structures. Three-dimensional reconstruction overlay with clear landing points enabled precise stent implantation with no additional contrast injections and lower radiation doses than conventional angiography in our patients.

  6. POINCARE PLOT OF HEART RATE VARIABILITY: QUANTITATIVE ANALYSIS OF SYMPATHETIC NERVOUS ACTIVITY IN NON-OBESE POLYCYSTIC OVARY SYNDROME PATIENTS

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    Malathi

    2016-06-01

    Full Text Available BACKGROUND Polycystic Ovary Syndrome (PCOS is one of the most common endocrinopathy in premenopausal women. AIM The aim of the study was to evaluate the effectiveness of the Poincare plot analysis of Heart Rate Variability (HRV in PCOS. METHODS AND MATERIALS 24 PCOS diagnosed by Rotterdam 2003 Diagnostic Criteria and were of lean and ideal weight as per WHO criteria and 24 BMI matched, age matched normally menstruating women served as study participants. People of the study group underwent 5 min of ECG, which was evaluated for HRV. HRV analysed were Geometrical parameters (HRV, TRI, INDEX, TINN, Total Power (TP and Poincare plot parameters (SD1, SD2, SD1/SD2, S. RESULTS The Poincare scatter grams were narrower in patients and wider in control groups showing parasympathetic withdrawal and sympathetic dominance, but were not statistically significant. Area (S, TP and HRV TRI INDEX, TINN showed overall decrease in autonomic activity denoting altered sympathovagal balance favouring sympathetic dominance. There was a significant correlation of TP, SD1, SD2, S, TINN and HRV TRI INDEX with increased Rate Pressure Product (RPP as well as with one another, but not with BMI. The regression analysis did not lay forward the independent associations of these variables. DISCUSSION AND CONCLUSION This study indicates the total variability is decreased even in young, lean and ideal weight PCOS patients. Larger studies are needed to evaluating the short- and long-term variability.

  7. Perioperative management of infants undergoing fundoplication and gastrostomy after stage I palliation of hypoplastic left heart syndrome.

    Science.gov (United States)

    Watkins, Scott; Morrow, Stephen E; McNew, Brent S; Donahue, Brian S

    2012-06-01

    Infants with hypoplastic left heart syndrome (HLHS) represent a high-risk population when they present for noncardiac surgery. To assist clinicians in the care of these infants, we present our experience of 36 HLHS patients who underwent abdominal surgery after stage I palliation. We reviewed patients with HLHS who underwent gastrostomy and/or fundoplication after stage I palliation during an 18-month period. We assessed the impact of preoperative echocardiographic predictors and regional anesthesia on use of intraoperative inotropes, extubation in the OR, perioperative instability, postoperative escalation of care, and length of hospital and intensive care unit stay. Of 39 abdominal operations, all but 2 were performed with open laparotomy. There was a positive association between regional anesthesia and instability during induction. Escalation of respiratory care occurred in 9 (23.1%) cases, and escalation of hemodynamic care occurred in 6 (15.4%) cases. Neoaortic valve insufficiency was associated with increased length of stay, and ventricular outflow obstruction was associated with escalation of hemodynamic care. Extubation in the OR was successful in 31 cases (79.5%). In-hospital death occurred in 1 patient (2.7%). HLHS infants often undergo abdominal surgery, but intraoperative instability and need for escalation of care is common. Specific echocardiographic findings were associated with length of stay and escalation of care. Regional anesthesia was associated with transient intraoperative instability but not with other adverse outcomes.

  8. Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases.

    Science.gov (United States)

    Pelleri, Maria Chiara; Gennari, Elena; Locatelli, Chiara; Piovesan, Allison; Caracausi, Maria; Antonaros, Francesca; Rocca, Alessandro; Donati, Costanza Maria; Conti, Letizia; Strippoli, Pierluigi; Seri, Marco; Vitale, Lorenza; Cocchi, Guido

    2017-06-23

    Among Down syndrome (DS) children, 40-50% have congenital heart disease (CHD). Although trisomy 21 is not sufficient to cause CHD, three copies of at least part of chromosome 21 (Hsa21) increases the risk for CHD. In order to establish a genotype-phenotype correlation for CHD in DS, we built an integrated Hsa21 map of all described partial trisomy 21 (PT21) cases with sufficient indications regarding presence or absence of CHD (n=107), focusing on DS PT21 cases. We suggest a DS CHD candidate region on 21q22.2 (0.96Mb), being shared by most PT21 cases with CHD and containing three known protein-coding genes (DSCAM, BACE2, PLAC4) and four known non-coding RNAs (DSCAM-AS1, DSCAM-IT1, LINC00323, MIR3197). The characterization of a DS CHD candidate region provides a useful approach to identify specific genes contributing to the pathology and to orient further investigations and possibly more effective therapy in relation to the multifactorial pathogenesis of CHD. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. Low heart-type fatty acid binding protein level during aging may protect down syndrome people against atherosclerosis

    Directory of Open Access Journals (Sweden)

    Vianello Elena

    2013-01-01

    Full Text Available Abstract Background Aging is considered an important independent risk factor for atherosclerosis. Down syndrome people (DS display an accelerated aging process compared to healthy subjects, anyway they are relatively resistant to developing atherosclerosis. The mechanisms involved in such protective effect are not well known. Since heart-type fatty acid binding protein (H-FABP is a protein involved in the transport of fatty acids and it has been recently correlated with the presence of atherosclerosis, we aimed to measure H-FABP level both in DS and in healthy subjects during aging to evaluate the association between this molecule, aging and atherosclerosis. Findings We quantified plasmatic H-FABP level in three groups of male DS and age-matched healthy subjects (children, age 2–14 years; adults, age 20–50 years; elderly, > 60 years using a biochip array analyzer. We observed that aging is associated with increased H-FABP level in healthy subjects but not in DS which display both the same protein level in the different ages of life and have also lower level compared to their age-matched healthy subjects. Conclusion Reduced H-FABP level during aging in DS may play a protective role against atherosclerosis. The potential involvement of H-FABP in the relationship between aging, atherosclerosis and development of coronary artery disease needs further investigations.

  10. A Clinical Study of Safflower Yellow Injection in Treating Coronary Heart Disease Angina Pectoris with Xin-Blood Stagnation Syndrome

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    Objective: To evaluate the clinical effect and safety of Safflower Yellow injection (SYI) in treating coronary heart disease angina pectoris (CHD-AP) with Xin-blood stagnation syndrome (XBSS).Methods: Adopted was the multi-centered, randomized, positive parallel controlled method, 448 patients with CHD-AP-XBSS were enrolled and divided into two groups, 336 in the tested group treated with SYI and112 in the control group treated with Salvia injection by intravenous dripping once a day for 14 days, so as to observe the conditions of angina, electrocardiogram, and therapeutic effect on traditinal Chinese medicine(TCM) symptoms as well as the safety of the treatment. Results: The significantly effective rate and total effective rate in the tested group were 60.06% (194/323) and 91.02% (294/323) respectively; those in improvement of TCM symptoms were 40.18% (129/321) and 75.23% (243/323) respectively, which were better than those in the control group (P<0.01). Conclusion: SYI Injection is effective and safe in treating CHD-AP-XBSS.

  11. Evaluation of cardiac function during laparoscopic gastrostomy in pediatric patients with hypoplastic left heart syndrome using intraoperative transesophageal echocardiography.

    Science.gov (United States)

    Knott, E Marty; Fraser, Jason D; Alemayahu, Hanna; Drake, William B; St Peter, Shawn D; Perryman, Kathy M; Juang, David

    2014-10-01

    Patients with single ventricle physiology (SVP)--specifically, hypoplastic left heart syndrome (HLHS)--frequently need long-term enteral access; however, they are at an extremely high operative risk. Nothing has been published on the physiologic impact on single ventricle function during laparoscopy in this patient population. Therefore, we performed intraoperative transesophageal echocardiography (TEE) to study the physiologic effects of laparoscopic surgery in these patients. After Internal Review Board approval, patients with SVP undergoing laparoscopic gastrostomy were studied with intraoperative TEE, and fractional shortening was determined. Patients were separated into those with HLHS and others with SVP. Data are reported as mean ± standard deviation values. Analysis of variance was used for continuous variables. From August 2011 to February 2013, in total, 11 patients with SVP underwent laparoscopic gastrostomy, including 6 with HLHS. One of the 6 HLHS patients and 1 of the SVP patients underwent concurrent fundoplication. All patients were post-first-stage palliation; two had completed post-second stage. Fractional shortening tended to decrease during insufflation and return to baseline after desufflation. There was no 30-day mortality. Pneumoperitoneum associated with laparoscopic gastrostomy tube placement results in a reversible decrease in fractional shortening in patients with HLHS and SVP. Overall, the children tolerated pneumoperitoneum. TEE allows for real-time assessment of ventricular function and volume and may improve safety during longer procedures.

  12. Association between sleep duration and metabolic syndrome in a population-based study: Isfahan Healthy Heart Program

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    Jamshid Najafian

    2011-01-01

    Full Text Available Background: Recent epidemiologic studies have found that self-reported sleep duration is associated with components of metabolic syndrome (MS such as obesity, diabetes and hypertension. This relation may be under influence of regional factors in different regions of the world. The association of sleep duration and MS in a sample of Iranian people in the central region of Iran was investigated in this study. Methods: This cross-sectional study was conducted as a part of the Isfahan Healthy Heart Program (IHHP. A total of 12492 individuals aged over 19 years, 6110 men and 6382 women entered the study. Definition of National Cholesterol Education Program was used to define MS. Sleep duration was reported by participants. Relation between sleep duration with MS was examined using categorical logistic regression in two models; unadjusted and adjusted for age and sex. Results: In our study, 23.5 % of participants had MS. Compared with sleep duration of 7-8 hours per night; sleep duration of less than 5 hours was associated with a higher odds ratio for MS. This association remained significant even after adjustment for age and sex (OR: 1.52; 95%CI: 1.33-1.74. However, sleep duration of 9 hours or more showed a protective association with MS (OR: 0.79; 95%CI: 0.68-0.94. Conclusions: There was a positive relation between sleep deprivation and MS and its components. This relation was slightly affected by sex and age.

  13. Overt and Covert Anxiety as a Toxic Factor in Ischemic Heart Disease in Women: The Link Between Psychological Factors and Heart Disease.

    Science.gov (United States)

    Nasiłowska-Barud, Alicja; Zapolski, Tomasz; Barud, Małgorzata; Wysokiński, Andrzej

    2017-02-10

    BACKGROUND Long-term clinical observations have shown that anxiety disorders influence the etiopathogenesis of ischemic heart disease (IHD) in women. The aim of this study was to determine the characteristics of the structure of overt and covert anxiety, and to examine the impact of the severity of anxiety on five personality traits as described Costa and McCrae. MATERIAL AND METHODS The study involved 50 women aged 37 to 74 years, who were treated because of IHD that was confirmed by angiographic examination of the coronary vessels. Psychological studies were conducted using the IPAT Anxiety Scale (Cattell) and NEO-FFI Personality Inventory (Costa and McCrae). RESULTS From among the 50 women with IHD included in the study, 28 had higher overt anxiety scores than covert anxiety scores. Women with high overt anxiety were more emotionally changeable (C-), became impatient more easily, and expressed disappointment with life. They also worried about life problems more frequently. They had considerable suspiciousness (L+) and less trust towards the environment. They had a much stronger tendency to blame themselves (O+) and had intense internal, neurotic tension (Q4+). Women with high levels of overt anxiety had more neurotic traits (NEU), and lower openness to experience (OPE) scores. CONCLUSIONS Women with IHD were characterized by a high level of unease and anxiety. This may have resulted from lack of personality harmony, lack of personality integrity, or experienced value crises. Internal tension, auto-aggression, lowered emotional stability, and a sense of threat dominate the structure of unease and anxiety.

  14. Overt and Covert Anxiety as a Toxic Factor in Ischemic Heart Disease in Women: The Link Between Psychological Factors and Heart Disease

    Science.gov (United States)

    Nasiłowska-Barud, Alicja; Zapolski, Tomasz; Barud, Małgorzata; Wysokiński, Andrzej

    2017-01-01

    Background Long-term clinical observations have shown that anxiety disorders influence the etiopathogenesis of ischemic heart disease (IHD) in women. The aim of this study was to determine the characteristics of the structure of overt and covert anxiety, and to examine the impact of the severity of anxiety on five personality traits as described Costa and McCrae. Material/Methods The study involved 50 women aged 37 to 74 years, who were treated because of IHD that was confirmed by angiographic examination of the coronary vessels. Psychological studies were conducted using the IPAT Anxiety Scale (Cattell) and NEO-FFI Personality Inventory (Costa and McCrae). Results From among the 50 women with IHD included in the study, 28 had higher overt anxiety scores than covert anxiety scores. Women with high overt anxiety were more emotionally changeable (C−), became impatient more easily, and expressed disappointment with life. They also worried about life problems more frequently. They had considerable suspiciousness (L+) and less trust towards the environment. They had a much stronger tendency to blame themselves (O+) and had intense internal, neurotic tension (Q4+). Women with high levels of overt anxiety had more neurotic traits (NEU), and lower openness to experience (OPE) scores. Conclusions Women with IHD were characterized by a high level of unease and anxiety. This may have resulted from lack of personality harmony, lack of personality integrity, or experienced value crises. Internal tension, auto-aggression, lowered emotional stability, and a sense of threat dominate the structure of unease and anxiety. PMID:28187122

  15. UBE3A regulates MC1R expression: a link to hypopigmentation in Angelman syndrome.

    Science.gov (United States)

    Low, Daren; Chen, Ken-Shiung

    2011-10-01

    Angelman syndrome (AS) is a neurogenetic disorder caused by the lack of functional ubiquitin-protein ligase E3A (UBE3A) that acts as an E3 ligase in the ubiquitin-proteosomal degradation pathway and/or as a transcriptional coactivator. Besides neurological deficit, hypopigmentation is another phenotype associated with AS patients currently attributed to the hemizygosity of the type II oculocutaneous albinism (OCA2) gene. Here we show that the melanocortin-1-receptor (MC1R) is down-regulated in the skin of the Ube3a((-/-)) mice. Luciferase-reporter assay shows that UBE3A is able to induce MC1R promoter activity. Using chromatin immunoprecipitation assay, Ube3a was observed to be physically associated with the Mc1r promoter. Deletion of the E box/SP1 element in the MC1R minimal promoter abolishes the ability of UBE3A to elevate MC1R promoter-luciferase reporter activity. Ube3a((-/-)) mice also show relative skin hypopigmentation. These results demonstrate that UBE3A plays a role in MC1R transcriptional regulation which can contribute to the development of hypopigmentation in AS patients. © 2011 John Wiley & Sons A/S.

  16. High prevalence of Dopaminergic Premonitory Symptoms in migraine patients with Restless Legs Syndrome: a pathogenetic link?

    Science.gov (United States)

    Cologno, Daniela; Cicarelli, Giulio; Petretta, Vittorio; d'Onofrio, Florindo; Bussone, Gennaro

    2008-05-01

    In order to assess the prevalence of Dopaminergic Premonitory Symptoms (DPS) in migraine patients with Restless Legs Syndrome (RLS), we chose migraine patients from a large Italian clinical headache population previously investigated for an association between primary headaches and RLS. We evaluated a total sample of 164 patients with migraine, in particular 114 with migraine without aura (MO), 10 with migraine with aura (MA) and 40 with MO and MA in various combinations between them or with episodic tension-type headache (ETTH), defined as a "mixed group". About 20% of all migraine patients referred at least one of the following DPS: yawning, nausea, somnolence or food craving, confirming data already indicated in the literature. Among migraine patients with RLS (25.6%), DPS were referred from about half of the patients (47.6%) compared to those without RLS (47.6% vs. 13.1%; panxiety, depression, sleep disorders, body mass index). It is interesting that the chances of having RLS in migraine patients were more than 5 times higher in the presence of DPS. These results could support a hypothetical dopaminergic imbalance in RLS and migraine, as the dopamine is involved in the pathogenesis of both disorders and it is responsible for the migraine DPS reported above.

  17. Mouse models to study polycystic ovary syndrome: a possible link between metabolism and ovarian function?

    Science.gov (United States)

    van Houten, E Leonie A F; Visser, Jenny A

    2014-03-01

    Polycystic ovary syndrome (PCOS) is the most common cause of female infertility affecting 6-8% of women worldwide. PCOS is characterized by two of the following three criteria: clinical or biochemical hyperandrogenism, oligo- or amenorrhea, and polycystic ovaries (PCO). In addition, women with PCOS are often obese and insulin resistant, and are at risk for type 2 diabetes and cardiovascular disease. The etiology of PCOS remains unknown. Therefore, several animal models for PCOS have been generated to gain insight into the etiology and development of the PCOS-associated phenotypes. Androgens are considered the main culprit of PCOS, and therefore, androgenization of animals is the most frequently used approach to induce symptoms that resemble PCOS. Prenatal or prepubertal androgen treatment results in many characteristics of human PCOS, including anovulation, cyst-like follicles, elevated luteinizing hormone (LH) levels, increased adiposity, and insulin insensitivity. However, PCOS has a heterogeneous presentation, and therefore it is difficult to generate a model that exactly reproduces the reproductive and metabolic phenotypes observed in women with PCOS. In this review, we discuss several mouse models for PCOS, and compare the reproductive and/or metabolic phenotypes observed in several androgen-induced models as well as in several genetic models.

  18. A paradigm linking herpesvirus immediate-early gene expression apoptosis and myalgic encephalomyelitis chronic fatigue syndrome

    Directory of Open Access Journals (Sweden)

    A Martin Lerner

    2011-02-01

    Full Text Available A Martin Lerner1, Safedin Beqaj21Department of Medicine, William Beaumont Hospital, Royal Oak, MI, USA; 2DCL Medical Laboratories, Indianapolis, IN, USAAbstract: There is no accepted science to relate herpesviruses (Epstein–Barr virus [EBV], human cytomegalovirus [HCMV], and human herpesvirus 6 [HHV6] as causes of myalgic encephalomyelitis (ME/chronic fatigue syndrome (CFS. ME/CFS patients have elevated serum immunoglobulin (IgG serum antibody titers to EBV, HCMV, and HHV6, but there is no herpesvirus DNA-emia, herpesvirus antigenemia, or uniformly elevated IgM serum antibody titers to the complete virions. We propose that herpesvirus EBV, HCMV, and HHV6 immediate-early gene expression in ME/CFS patients leads to host cell dysregulation and host cell apoptosis without lytic herpesvirus replication. Specific antiviral nucleosides, which alleviate ME/CFS, namely valacyclovir for EBV ME/CFS and valganciclovir for HCMV/HHV6 ME/CFS, inhibit herpesvirus DNA polymerases and/or thymidine kinase functions, thus inhibiting lytic virus replication. New host cell recruitment thus ceases. In the absence of new herpesvirus, nonpermissive herpesvirus replication stops, and ME/CFS recovery ensues.Keywords: ME/CFS, Epstein–Barr virus (EBV, human cytomegalovirus (HCMV, HHV6, abortive replication

  19. Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI

    Energy Technology Data Exchange (ETDEWEB)

    Steinmann, B.; Eyre, D.R.; Shao, P. [Univ. Children`s Hospital, Zurich (Switzerland)]|[Univ. of Washington, Seattle, WA (United States)

    1995-12-01

    The Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable disorders of connective tissue, affecting skin, ligaments, joints, blood vessels, and internal organs. The main general findings are hyperextensibility and bruisability of the skin, with abnormal scarring, and joint laxity. On the basis of clinical, genetic, and biochemical findings, EDS can be classified today into at least 10 different types. Among them, EDS type VI (MIM 225400) is characterized by marked muscular hypotonia from birth; kyphoscoliosis, often present at birth and progressing to a severe form; marfanoid habitus; eye involvement, often with microcornea and a tendency of the eyeballs to rupture after minor trauma; osteoporosis; and sometimes spontaneous rupture of arteries. The disorder is due to a deficiency of lysyl hydroxylase (E.C.1.14.11.4), inherited in an autosomal recessive mode. Traditionally, the clinical diagnosis is confirmed by an insufficiency of hydroxylysine, on analysis of hydrolyzed dermis and/or reduced enzyme activity in cultured skin fibroblasts. 12 refs., 1 tab.

  20. A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26.

    Science.gov (United States)

    Cilliers, Deirdre D; Parveen, Rahat; Clayton, Peter; Cairns, Stephen A; Clarke, Sheila; Shalet, Stephen M; Black, Graeme C M; Newman, William G; Clayton-Smith, Jill

    2007-01-01

    X-linked mental retardation (XLMR) is a heterogeneous disorder with both syndromic and non-syndromic forms. Here we describe the clinical and molecular characterisation of a family with a syndromic form of XLMR with hypogonadism and short stature. We investigated a family in which four male members in two generations presented with hypergonadotrophic hypogonadism associated with development of small and abnormal testes. In two of the males, late-onset testicular ascent was noted. In addition, all affected males had short stature (maps to the same X chromosome region implicated in our family. However, the more severe mental retardation, muscle wasting and tremor described in this other family would suggest that our family is affected by a novel XLMR syndrome.

  1. Diagnostic Challenge of Hepatopulmonary Syndrome in a Patient with Coexisting Structural Heart Disease

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    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.

  2. An unusual clinical presentation resembling superior vena cava syndrome post heart surgery

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    Pellegrini Ronald

    2005-10-01

    Full Text Available Abstract Background An unusual sequence of post operative events heralded by hemodynamic deterioration followed by dyspnea and rapidly progressive dilatation of superficial neck and facial veins, resembling a superior vena cava syndrome, two days post surgical resection of filamentous aortic valve masses, closure of a patent foramen ovale, and performance of a modified Maze procedure for atrial fibrillation in a patient that presented with transient neurologic findings is presented. Case Presentation Although both clinical findings and hemodynamic derangements completely resolved following tricuspid valve repair aimed to correct the new onset severe tricuspid regurgitation noted post operatively; a clear mechanism was not readily obvious and diagnostic testing data somewhat conflictive. We present a careful retrospective examination of all clinical data and review possible clinical entities that could have been implicated in this particular case and recognize that transesophageal echocardiographic findings were most useful in identifying the best course of action. Conclusion After reviewing all clinical data and despite the inconclusive nature of test results; the retrospective examination of transesophageal echocardiographic findings proved to be most useful in identifying the best course of action. We postulate that in our case, resolution of the suspected pulmonary embolism with anticoagulation and reestablishment of a normal right ventricular geometry with tricuspid valve repair worked in unison in restoring normal hemodynamics and resolving both dyspnea and venous dilatation.

  3. Association between adolescence obesity and metabolic syndrome: Evidence from Isfahan Healthy Heart Program

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    Alireza Ahmadi

    2014-01-01

    Full Text Available Background: Metabolic syndrome (MetS is more prevalent among Iranian adolescences. This study aimed to find the relationship between obesity and MetS among different education grades of Iranian adolescence. Materials and Methods: Overall, 1039 junior high school and 953 high school students were selected using multistage random sampling. Fasting blood sugar, total cholesterol, triglyceride (TG, and high-density lipoprotein cholesterol (HDL were measured. Trained individuals measured waist circumference and blood pressure. MetS was defined according to the De Ferranti definition. Results: The prevalence of overweight and obesity was 12.6% and 6.2% in junior and 11.5% and 4.3% in high school students, respectively. Obese subjects in both grades have higher waist circumference, systolic and diastolic blood pressure, and triglyceride than comparable groups. Multiple logistic regression models showed that overweight and obesity were strongly associated with MetS components analyzed. Compared to normal-weight children, overweight and obese in junior high school students were 1.47 and 2.23 times more likely to be having high TG, respectively, whereas overweight and obese in high school-students were also more likely to have elevated TG [ORs 1.94 (1.28-2.94, 4.96 (2.39-10.3 respectively]. Conclusion: Obese children have the highest prevalence of MetS. Prevalence of MetS-related components has reached high level among Iranian adolescences that were overweight or obese.

  4. 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.

  5. MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.

    Science.gov (United States)

    Vetro, Annalisa; Savasta, Salvatore; Russo Raucci, Annalisa; Cerqua, Cristina; Sartori, Geppo; Limongelli, Ivan; Forlino, Antonella; Maruelli, Silvia; Perucca, Paola; Vergani, Debora; Mazzini, Giuliano; Mattevi, Andrea; Stivala, Lucia Anna; Salviati, Leonardo; Zuffardi, Orsetta

    2017-02-15

    Meier-Gorlin syndrome (MGORS) is a rare disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. Recessive mutations in ORC1, ORC4, ORC6, CDT1, CDC6, and CDC45, encoding members of the pre-replication (pre-RC) and pre-initiation (pre-IC) complexes, and heterozygous mutations in GMNN, a regulator of cell-cycle progression and DNA replication, have already been associated with this condition. We performed whole-exome sequencing (WES) in a patient with a clinical diagnosis of MGORS and identified biallelic variants in MCM5. This gene encodes a subunit of the replicative helicase complex, which represents a component of the pre-RC. Both variants, a missense substitution within a conserved domain critical for the helicase activity, and a single base deletion causing a frameshift and a premature stop codon, were predicted to be detrimental for the MCM5 function. Although variants of MCM5 have never been reported in specific human diseases, defect of this gene in zebrafish causes a phenotype of growth restriction overlapping the one associated with orc1 depletion. Complementation experiments in yeast showed that the plasmid carrying the missense variant was unable to rescue the lethal phenotype caused by mcm5 deletion. Moreover cell-cycle progression was delayed in patient's cells, as already shown for mutations in the ORC1 gene. Altogether our findings support the role of MCM5 as a novel gene involved in MGORS, further emphasizing that this condition is caused by impaired DNA replication.European Journal of Human Genetics advance online publication, 15 February 2017; doi:10.1038/ejhg.2017.5.

  6. Prenatal Tests for Down Syndrome

    Science.gov (United States)

    ... PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? Down syndrome is a common birth defect that includes mental retardation and— often— heart problems. Children with Down syndrome have round faces and almond-shaped eyes that ...

  7. Relationship of hypovitaminosis d and insulin resistance in patients with coronary heart disease and metabolic syndrome

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    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

  8. Heart and Stroke Encyclopedia

    Science.gov (United States)

    ... Venous Thromboembolism Aortic Aneurysm More The Heart and Stroke Encyclopedia Click a letter below to get a ... dozens of cardiovascular terms from our Heart and Stroke Encyclopedia and get links to in-depth information. ...

  9. 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

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    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.

  10. Analysis of Heart Rate Variability of Coronary Heart Disease Patients with Phlegm Heat Syndrome%冠心病痰热证患者心率变异性分析

    Institute of Scientific and Technical Information of China (English)

    齐连芬; 李川洁; 方业明; 刘晓洁; 李平; 王林海

    2012-01-01

    Objective To discuss the characteristics and clinical significance of cardiovascular autonomic nervous function changes through analysis of heart rate variability (HRV) of patients with coronary heart disease (CHD) and phlegm heat syndrome. Methods Seventy-nine patients were diagnosed as CHD by coronary angiography or myocardial infarction medical history. A group of 30 cases with phlegm heat syndrome and another group of 30 cases with blood stasis syndrome were selected from them. Then the time domain parameters of HRV in Holter testing of the 2 groups were compared. Results The time domain parameters of phlegm heat syndrome group were less than that of blood stasis syndrome group obviously (PSDNN>50 ms) was higher than that of the blood stasis syndrome group obviously (P<0.01). Conclusion For patients with CHD with phlegm heat syndrome, obviously decreasing of HRV time domain parameters suggests serious damage of autonomic nervous, and indicates high risk of sudden death in cardiovascular events.%目的 通过对痰热证冠心病患者的心率变异性(HRV)进行分析,探讨此证型患者的心脏自主神经功能改变特点及临床意义.方法收集经冠状动脉造影或明确心肌梗死病史等确诊为冠心病的患者79例,辨证为痰热证组30例,血瘀证组30例,2组均进行动态心电图检查,分析HRV时域参数.结果 痰热证组HRV时域参数明显低于血瘀证组(P<0.01).痰热证组HRV参数SDNN在不同降低程度(SDNN≤50 ms、100 ms>SDNN>50 ms)的发生率明显高于血瘀证组(P<0.01).结论 冠心病痰热证患者HRV时域指标降低明显,提示自主神经损害严重,预示心血管事件中猝死风险增加.

  11. Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome.

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    Akihiko Muto

    2011-10-01

    Full Text Available Cornelia de Lange Syndrome (CdLS is the founding member of a class of multi-organ system birth defect syndromes termed cohesinopathies, named for the chromatin-associated protein complex cohesin, which mediates sister chromatid cohesion. Most cases of CdLS are caused by haploinsufficiency for Nipped-B-like (Nipbl, a highly conserved protein that facilitates cohesin loading. Consistent with recent evidence implicating cohesin and Nipbl in transcriptional regulation, both CdLS cell lines and tissues of Nipbl-deficient mice show changes in the expression of hundreds of genes. Nearly all such changes are modest, however--usually less than 1.5-fold--raising the intriguing possibility that, in CdLS, severe developmental defects result from the collective action of many otherwise innocuous perturbations. As a step toward testing this hypothesis, we developed a model of nipbl-deficiency in zebrafish, an organism in which we can quantitatively investigate the combinatorial effects of gene expression changes. After characterizing the structure and embryonic expression of the two zebrafish nipbl genes, we showed that morpholino knockdown of these genes produces a spectrum of specific heart and gut/visceral organ defects with similarities to those in CdLS. Analysis of nipbl morphants further revealed that, as early as gastrulation, expression of genes involved in endodermal differentiation (sox32, sox17, foxa2, and gata5 and left-right patterning (spaw, lefty2, and dnah9 is altered. Experimental manipulation of the levels of several such genes--using RNA injection or morpholino knockdown--implicated both additive and synergistic interactions in causing observed developmental defects. These findings support the view that birth defects in CdLS arise from collective effects of quantitative changes in gene expression. Interestingly, both the phenotypes and gene expression changes in nipbl morphants differed from those in mutants or morphants for genes encoding

  12. Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation

    Directory of Open Access Journals (Sweden)

    Blue Mary

    2010-02-01

    Full Text Available Abstract Background Rett syndrome (RTT, a common cause of mental retardation in girls, is associated with mutations in the MECP2 gene. Most human cases of MECP2 mutation in girls result in classical or variant forms of RTT. When these same mutations occur in males, they often present as severe neonatal encephalopathy. However, some MECP2 mutations can also lead to diseases characterized as mental retardation syndromes, particularly in boys. One of these mutations, A140V, is a common, recurring missense mutation accounting for about 0.6% of all MeCP2 mutations and ranking 21st by frequency. It has been described in familial X-linked mental retardation (XLMR, PPM- X syndrome (Parkinsonism, Pyramidal signs, Macroorchidism, X-linked mental retardation and in other neuropsychiatric syndromes. Interestingly, this mutation has been reported to preserve the methyl-CpG binding function of the MeCP2 protein while compromising its ability to bind to the mental retardation associated protein ATRX. Results We report the construction and initial characterization of a mouse model expressing the A140V MeCP2 mutation. These initial descriptive studies in male hemizygous mice have revealed brain abnormalities seen in both RTT and mental retardation. The abnormalities found include increases in cell packing density in the brain and a significant reduction in the complexity of neuronal dendritic branching. In contrast to some MeCP2 mutation mouse models, the A140V mouse has an apparently normal lifespan and normal weight gain patterns with no obvious seizures, tremors, breathing difficulties or kyphosis. Conclusion We have identified various neurological abnormalities in this mouse model of Rett syndrome/X-linked mental retardation which may help to elucidate the manner in which MECP2 mutations cause neuronal changes resulting in mental retardation without the confounding effects of seizures, chronic hypoventilation, or other Rett syndrome associated symptoms.

  13. [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

  14. Prognostic Value of Glomerular Collagen IV Immunofluorescence Studies in Male Patients with X-Linked Alport Syndrome

    Science.gov (United States)

    Gangemi, Concetta; Giannakakis, Kostas; Crisafi, Antonella; Faraggiana, Tullio; Fallerini, Chiara; Renieri, Alessandra; Muda, Andrea Onetti; Emma, Francesco

    2013-01-01

    Summary Background and objectives X-linked Alport syndrome (X-AS) is caused by mutations of the COL4A5 gene, which encodes for the collagen IV α5 chain (α5[COLIV]), resulting in structural and functional abnormalities of the glomerular basement membrane (GBM) and leading to CKD. The aim of the present study was to evaluate the prognostic value of residual collagen IV chain expression in the GBM of patients with X-AS. Design, setting, participants, & measurements The medical records of 22 patients with X-AS from 21 unrelated families collected between 1987 and 2009 were reviewed (median age at last follow-up, 19.9 years; range, 5.4–35.1 years); GBM expression of α1, α3, and α5(COLIV) chains was assessed by immunofluorescence microscopy. Results GBM distribution of the α5(COLIV) chain was diffuse in 1 and segmental or absent in 21 of the 22 patients; the expression of the α3(COLIV) chain was diffuse in 5 of 22 patients and segmental or absent in 17 of 22 patients. Patients with diffuse staining for the α3(COLIV) chain presented with proteinuria significantly later (median age, 16.9 versus 6.1 years; P=0.02) and reached an estimated GFR < 90 ml/min per 1.73 m2 at an older age (median age, 27.0 versus 14.9 years; P=0.01) compared with patients with segmental or absent staining. Two thirds of patients with abnormal α3(COLIV) expression by immunofluorescence studies had null or truncating COL4A5 mutations, as opposed to none of the 4 tested patients with diffuse α3(COLIV) chain glomerular distribution. Conclusions These results indicate that maintained expression of the α3(COLIV) chain is an early positive prognostic marker in patients with X-linked Alport symdrome. PMID:23371956

  15. Impaired adipocyte lipolysis in nonobese women with the polycystic ovary syndrome: a possible link to insulin resistance?

    National Research Council Canada - National Science Library

    Ek, I; Arner, P; Bergqvist, A; Carlström, K; Wahrenberg, H

    1997-01-01

    The polycystic ovary syndrome (PCOS) is the most common hyperandrogenic disorder among women and is characterized by metabolic and cardiovascular aberrations similar to those seen in the so-called insulin resistance syndrome...

  16. Venous saturation and the anaerobic threshold in neonates after the Norwood procedure for hypoplastic left heart syndrome.

    Science.gov (United States)

    Hoffman, G M; Ghanayem, N S; Kampine, J M; Berger, S; Mussatto, K A; Litwin, S B; Tweddell, J S

    2000-11-01

    Reduction in oxygen delivery can lead to organ dysfunction and death by cellular hypoxia, detectable by progressive (mixed) venous oxyhemoglobin desaturation until extraction is limited at the anaerobic threshold. We sought to determine the critical level of venous oxygen saturation to maintain aerobic metabolism in neonates after the Norwood procedure (NP) for the hypoplastic left heart syndrome (HLHS). A prospective perioperative database was maintained for demographic, hemodynamic, and laboratory data. Invasive arterial and atrial pressures, arterial saturation, oximetric superior vena cava (SVC) saturation, and end-tidal CO2 were continuously recorded and logged hourly for the first 48 postoperative hours. Arterial and venous blood gases and cooximetry were obtained at clinically appropriate intervals. SVC saturation was used as an approximation of mixed venous saturation (SvO2). A standard base excess (BE) less than -4 mEq/L (BElo), or a change exceeding -2 mEq/L/h (deltaBElo), were used as indicators of anaerobic metabolism. The relationship between SvO2 and BE was tested by analysis of variance and covariance for repeated measures; the binomial risk of BElo or deltaBElo at SvO2 strata was tested by the likelihood ratio test and logistic regression, with cutoff at p rose to 29% when SvO2 was 30% or below (p < 0.0001). Survival was 100% at 1 week and 94% at hospital discharge. Analysis of acid-base changes revealed an apparent anaerobic threshold when SvO2 fell below 30%. Clinical management to maintain SvO2 above this threshold yielded low mortality.

  17. Haplotype analysis of DNA microsatellites tightly linked to the locus of Usher syndrome type I on chromosome 11q

    Energy Technology Data Exchange (ETDEWEB)

    Korostishevsky, M.; Kalinsky, H.; Seroussi, E. [Sackler Faculty of Medicine, Ramat-Aviv (Israel)] [and other

    1994-09-01

    Usher syndrome type I (USHI), an autosomal recessive disorder associated with congenital sensorineural deafness and progressive visual loss, is closely linked to the D11S533 locus. The availability of 7 other polymorphic markers within few centimorgans spanning the disease locus allowed us to identify a unique and single haplotype among all carriers of USHI gene in the Samaritan kindred. Occurrence of recombination in this small chromosomal interval is rare, hindering the detection of the mitotic recombination events needed for analysis by traditional linkage methods. Attempts to order the eight loci by linkage disequilibrium models proved to be problematic. However, our haplotype analysis implied that recombinations which had arisen in past generations may be utilized in fine mapping of the USHI gene and in resolving the conflicting linkage maps previously obtained for this region. We have developed a simple algorithm for predicting the order of the microsatellites on the basis of haplotype resemblance. The following chromosomal map in which the USHI gene is closest to D11S533 (location score of 31.0 by multipoint analysis) is suggested: D11S916, GARP, D11S527, D11S533, OMP, D11S906, D11S911, D11S937. Physical mapping efforts are currently directed to verify and to detail the map of this chromosomal region.

  18. 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.

  19. Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome

    Directory of Open Access Journals (Sweden)

    Lin-Lin Wang

    2014-01-01

    Full Text Available X-linked hyper-IgM syndrome (XHIGM is one type of primary immunodeficiency diseases, resulting from defects in the CD40 ligand/CD40 signaling pathways. We retrospectively analyzed the clinical and molecular features of 20 Chinese patients diagnosed and followed up in hospitals affiliated to Shanghai Jiao Tong University School of Medicine from 1999 to 2013. The median onset age of these patients was 8.5 months (range: 20 days–21 months. Half of them had positive family histories, with a shorter diagnosis lag. The most common symptoms were recurrent sinopulmonary infections (18 patients, 90%, neutropenia (14 patients, 70%, oral ulcer (13 patients, 65%, and protracted diarrhea (13 patients, 65%. Six patients had BCGitis. Six patients received hematopoietic stem cell transplantations and four of them had immune reconstructions and clinical remissions. Eighteen unique mutations in CD40L gene were identified in these 20 patients from 19 unrelated families, with 12 novel mutations. We compared with reported mutation results and used bioinformatics software to predict the effects of mutations on the target protein. These mutations reflected the heterogeneity of CD40L gene and expanded our understanding of XHIGM.

  20. Genetic evidence for a link between favorable adiposity and lower risk of type 2 diabetes, hypertension and heart disease

    Science.gov (United States)

    Yaghootkar, Hanieh; Lotta, Luca A.; Tyrrell, Jessica; Smit, Roelof A. J.; Jones, Sam E.; Donnelly, Louise; Beaumont, Robin; Campbell, Archie; Tuke, Marcus A.; Hayward, Caroline; Ruth, Katherine S.; Padmanabhan, Sandosh; Jukema, J. Wouter; Palmer, Colin C.; Hattersley, Andrew; Freathy, Rachel M.; Langenberg, Claudia; Wareham, Nicholas J.; Wood, Andrew R.; Murray, Anna; Weedon, Michael N.; Sattar, Naveed; Pearson, Ewan; Scott, Robert A.; Frayling, Timothy M.

    2017-01-01

    Recent genetic studies have identified some alleles associated with higher BMI but lower risk of type 2 diabetes, hypertension and heart disease. These “favorable adiposity” alleles are collectively associated with lower insulin levels and higher subcutaneous-to-visceral adipose tissue ratio and may protect from disease through higher adipose storage capacity. We aimed to use data from 164,609 individuals from the UK Biobank and five other studies to replicate associations between a genetic score of 11 favorable adiposity variants and adiposity and risk of disease, test for interactions between BMI and favorable adiposity genetics and test effects separately in men and women. In the UK Biobank the 50% of individuals carrying the most favorable adiposity alleles had higher BMIs (0.120 Kg/m2 [0.066,0.174]; p=1E-5) and higher body fat percentage (0.301 % [0.230,0.372]; p=1E-16) compared to the 50% of individuals carrying the fewest alleles. For a given BMI, the 50% of individuals carrying the most favourable adiposity alleles were at: 0.837 OR [0.784,0.894] lower risk of type 2 diabetes (p=1E-7), -0.859 mmHg [-1.099,-0.618] lower systolic (p=3E-12) and -0.394 mmHg [-0.534,-0.254] lower diastolic blood pressure (p=4E-8), 0.935 OR [0.911,0.958] lower risk of hypertension (p=1E-7) and 0.921 OR [0.872,0.973] lower risk of heart disease (p=3E-3). In women, these associations could be explained by the observation that the alleles associated with higher BMI but lower risk of disease were also associated with a favourable body fat distribution, with a lower waist-hip ratio (-0.004 [-0.005,-0.003] 50% vs 50%; p=3E-14) but in men, the favourable adiposity alleles were associated with higher waist circumference (0.454 cm [0.267,0.641] 50% vs 50%; p=2E-6) and higher waist-hip ratio (0.0013 [0.0003,0.0024] 50% vs 50%; p=0.01). Results were strengthened when meta-analysing with five additional studies. There was no evidence of interaction between a genetic score consisting of

  1. Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.

    Science.gov (United States)

    Prakash, Siddharth K; Bondy, Carolyn A; Maslen, Cheryl L; Silberbach, Michael; Lin, Angela E; Perrone, Laura; Limongelli, Giuseppe; Michelena, Hector I; Bossone, Eduardo; Citro, Rodolfo; Lemaire, Scott A; Body, Simon C; Milewicz, Dianna M

    2016-12-01

    Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30-50 times more frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome-wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13.31 that is associated with LSL with an odds ratio of 3.7. This CNV contains three protein-coding genes (SLC2A3, SLC2A14, and NANOGP1) and was previously implicated in congenital heart defects in the 22q11 deletion syndrome. In addition, we identified a subset of rare and recurrent CNVs that are also enriched in non-syndromic BAV cases. These observations support our hypothesis that X chromosome and autosomal variants affecting cardiac developmental genes may interact to cause the increased prevalence of LSL in TS. © 2016 Wiley Periodicals, Inc.

  2. Treatment the Restless Legs Syndrome from the Heart and Spleen%从心脾论治不宁腿综合征

    Institute of Scientific and Technical Information of China (English)

    方榕; 陈宝国

    2016-01-01

    不宁腿综合征( restless legs syndrome,RLS)是指令人不适的下肢感觉障碍,并于活动下肢后症状得以改善的感觉运动障碍性疾病。其病因病机尚未明确,目前对症治疗者多,对因治疗缺。本文从心脾与不宁腿综合征的关系入手,认为心脾与不宁腿综合症在生理病理上存在着相关性,以补益心脾的方法治疗不宁腿综合征,可取到较好疗效。%Restless legs syndrome( RLS) was one of the feeling obstacle of lower limbs and the activity of the lower limbs symptoms im-proved feeling motility disorders. At present, the etiopathogenisis and pathogenesis was not yet clear ,symptomatic treatment for treat-ment was lot,but we lacked the etiological treatment . This article set out to the RLS from the relationship of the heart and spleen and restless leg syndrome,and think both exist on physiological and pathological correlation. So tonifying heart and spleen therapy the RLS can get a good curative effect.

  3. Heart Truth for Women: If You Have Heart Disease

    Science.gov (United States)

    ... of physical activity • Unhealthy diet • Diabetes and prediabetes • Metabolic syndrome Other conditions and factors also may contribute to ... The Heart Truth is a way of informing women about what they can do to prevent heart ...

  4. Whole grains, type 2 diabetes, coronary heart disease, and hypertension: links to the aleurone preferred over indigestible fiber.

    Science.gov (United States)

    Lillioja, Stephen; Neal, Andrew L; Tapsell, Linda; Jacobs, David R

    2013-01-01

    Higher whole grain cereal intakes are associated with substantially lower risks of type 2 diabetes, coronary heart disease, and hypertension. These reduced risks have been established in large prospective studies that now include millions of person-years of follow-up. We analyze the results of 11 major prospective studies to provide recommendations about whole grain consumption. The following review establishes the amount of whole grains that should ideally be consumed based on prospective evidence; defines the nature of whole grains; identifies that the whole grain evidence is robust and not due to confounding; and provides a detailed assessment of several potential mechanisms for the effect of whole grains on health. We draw the following conclusions. Firstly, to maintain health, 40 grams or more of whole grains should be consumed daily. This is about a bowl of whole grain breakfast cereal daily, but 80% of the population does not achieve this. Secondly, aleurone in bran is a critical grain component generally overlooked in favor of indigestible fiber. Live aleurone cells constitute 50% of millers' bran. They store minerals, protein, and the antioxidant ferulic acid, and are clearly more than just indigestible fiber. Finally, we suggest potential roles for magnesium, zinc, and ferulic acid in the development of chronic disease. If the results of prospective studies were applied to the life-style practices of modern societies there exists the potential for enormous personal health and public financial benefits.

  5. How Does Heart Disease Affect Women?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. How Does Heart Disease Affect Women? Español In the United States, 1 ... about coronary MVD and broken heart syndrome. Coronary Heart Disease CHD is a disease in which plaque (plak) ...

  6. The cardio-renal-anemia syndrome in elderly subjects with heart failure and a normal ejection fraction: a comparison with heart failure and low ejection fraction.

    Science.gov (United States)

    Cohen, Rose S; Mubashir, Asyia; Wajahat, Raja; Mani, Susan; Hummel, Scott; Maurer, Mathew S

    2006-01-01

    The prevalence and severity of anemia and renal dysfunction in heart failure patients with a normal ejection fraction (HFNEF) is uncharacterized. Two hundred eighty-five consecutive patients admitted to a community hospital with heart failure were stratified by the presence or absence of anemia and a normal or reduced ejection fraction. Comparisons of clinical variables were performed. In this sample, 62% of subjects were anemic, with no difference between those with a normal and a reduced ejection fraction (63% vs. 61%). Anemic HFNEF subjects had a lower glomerular filtration rate (37 +/- 21 mL/min vs. 52 +/- 35 mL/min; p renal dysfunction and anemia. The authors conclude that the degree and magnitude of anemia in elderly inpatients with heart failure does not differ by ejection fraction. Worse symptoms and more severe renal dysfunction were seen in HFNEF subjects with anemia than in HFNEF subjects without anemia.

  7. Monotherapy with anti-CD20 monoclonal antibody in a heart transplant recipient with sick sinus syndrome and posttransplantation lymphoproliferative disorder: a case report.

    Science.gov (United States)

    Yang, Hsiang-Yu; Ke, Hung-Yen; Hong, Gou-Jieng; Tsai, Yi-Ting; Lin, Chih-Yuan; Li, Chung-Yi; Tsai, Chien-Sung

    2009-10-01

    Posttransplantation lymphoproliferative disorder (PTLD) is a serious complication of organ transplantation, with an incidence of 0.8% to 20% in heart transplant (HTx) recipients, and standard treatment may be too toxic in some cases. Rituximab is an anti-CD20 monoclonal antibody that has demonstrated efficacy in patients with various lymphoid malignancies and has been demonstrated effective in combination with chemotherapy regimens such as CHOP (cyclophosphamide, doxorubicin, vincristine, and prednisolone). Cardiotoxicity with CHOP remains a major concern for treating HTx recipients with PTLD, however. We present a case of an HTx recipient with sick sinus syndrome and PTLD who was successfully treated with rituximab alone, avoiding the cardiotoxicity of CHOP. The cardiotoxicity induced by CHOP should be kept in mind in HTx recipients with PTLD, especially when there is an existing heart problem in such recipients. Monotherapy with rituximab can be considered a safe choice.

  8. 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.

  9. Genetics Home Reference: otopalatodigital syndrome type 1

    Science.gov (United States)

    ... Management Genetic Testing (1 link) Genetic Testing Registry: Oto-palato-digital syndrome, type I Other Diagnosis and ... syndrome faciopalatoosseous syndrome FPO OPD syndrome, type 1 oto-palato-digital syndrome, type I Taybi syndrome Related ...

  10. Genetics Home Reference: otopalatodigital syndrome type 2

    Science.gov (United States)

    ... Management Genetic Testing (1 link) Genetic Testing Registry: Oto-palato-digital syndrome, type II Other Diagnosis and ... syndrome faciopalatoosseous syndrome FPO OPD syndrome, type 2 oto-palato-digital syndrome, type II Taybi syndrome Related ...

  11. Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China.

    Science.gov (United States)

    Huang, C; Yang, Y-F; Zhang, H; Xie, L; Chen, J-L; Wang, J; Tan, Z-P; Luo, H

    2012-08-13

    Smith-Magenis syndrome (SMS) is a rare syndrome with multiple congenital malformations, including development and mental retardation, behavioral problems and a distinct facial appearance. SMS is caused by haploinsufficiency of RAI1 (deletion or mutation of RAI1). We describe an eight-year-old female Chinese patient with multiple malformations, congenital heart defect, mental retardation, and behavioral problems (self hugging, sleeping disturbance). High-resolution genome wide single nucleotide polymorphism array revealed a 3.7-Mb deletion in chromosome region 17p11.2. This chromosome region contains RAI1, a critical gene involved in SMS. To the best of our knowledge, this is the first report of an SMS patient in mainland China.

  12. Differential Gene Expression Profiles in Coronary Heart Disease Patients of Blood Stasis Syndrome in Traditional Chinese Medicine and Clinical Role of Target Gene

    Institute of Scientific and Technical Information of China (English)

    马晓娟; 殷惠军; 陈可冀

    2009-01-01

    Objective:To investigate the differential gene expression profiles in coronary heart disease(CHD) patients of blood-stasis syndrome(BSS) by oligonucleotide microarray technique,and the clinical significance of target gene.Methods:Subjects were assigned to CHD patients with BSS(n=8),CHD patients without BSS (n=8),and BSS patients without CHD(n=8) based on coronary angiography and the diagnostic criteria of BSS. The sex- and age-matched healthy volunteers(n=8) were enrolled as the control group.Venous bloo...

  13. 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.

  14. Performance measures for management of chronic heart failure patients with acute coronary syndrome in China: results from the Bridging the Gap on Coronary Heart Disease Secondary Prevention in China (BRIG)Project

    Institute of Scientific and Technical Information of China (English)

    WANG Na; ZHAO Dong; LIU Jing; LIU Jun; Cheuk-Man Yu; WANG Wei; SUN Jia-yi

    2013-01-01

    Background Chronic heart failure (CHF) is a severe clinical syndrome associated with high morbidity and mortality,and with high health care expenditures.No nationwide data are currently available regarding the quality of clinical management of CHF patients in China.The aim of this study was to assess the quality of care of CHF inpatients in China.Methods The American College of Cardiology/American Heart Association Clinical Performance Measures for Adults with Chronic Heart Failure (Inpatient Measurement Set) with slight modifications was used to measure the performance status in 612 CHF patients with acute coronary syndrome (ACS) from 65 hospitals across all regions of China.Results The implementation rates of guideline recommended strategies for CHF management were low.Only 57.5% of the CHF patients received complete discharge instructions,53.6% of the patients received evaluation of left ventricular systolic function,62.8% received an angiotensin-converting enzyme inhibitor/angiotensin receptor blocker at discharge,and 52.7% received a β-blocker at discharge,56.3% of the smokers received smoking cessation counseling.The rate of warfarin utilization was only 9.7% in CHF patients with atrial fibrillation.Most patients (81.4%) did not receive all the first four treatments.There were marked differences in the quality of CHF management among patients with different characteristics.Conclusions Performance measures provide a standardized method of assessing quality of care,and can thus highlight problems in disease management in clinical practice.The quality of care for CHF patients with ACS in China needs to be improved.

  15. 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.

  16. How Is Metabolic Syndrome Treated?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. How Is Metabolic Syndrome Treated? Heart-healthy lifestyle changes are the first line of treatment for metabolic syndrome. If heart-healthy lifestyle changes aren’t enough, ...

  17. Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology.

    Science.gov (United States)

    Roos, Andreas; Buchkremer, Stephan; Kollipara, Laxmikanth; Labisch, Thomas; Gatz, Christian; Zitzelsberger, Manuela; Brauers, Eva; Nolte, Kay; Schröder, J Michael; Kirschner, Janbernd; Jesse, Christopher Marvin; Goebel, Hans Hilmar; Goswami, Anand; Zimmermann, Richard; Zahedi, René Peiman; Senderek, Jan; Weis, Joachim

    2014-05-01

    Marinesco-Sjögren syndrome (MSS) features cerebellar ataxia, mental retardation, cataracts, and progressive vacuolar myopathy with peculiar myonuclear alterations. Most MSS patients carry homozygous or compound heterozygous SIL1 mutations. SIL1 is a nucleotide exchange factor for the endoplasmic reticulum resident chaperone BiP which controls a plethora of essential processes in the endoplasmic reticulum. In this study we made use of the spontaneous Sil1 mouse mutant woozy to explore pathomechanisms leading to Sil1 deficiency-related skeletal muscle pathology. We found severe, progressive myopathy characterized by alterations of the sarcoplasmic reticulum, accumulation of autophagic vacuoles, mitochondrial changes, and prominent myonuclear pathology including nuclear envelope and nuclear lamina alterations. These abnormalities were remarkably similar to the myopathy in human patients with MSS. In particular, the presence of perinuclear membranous structures which have been reported as an ultrastructural hallmark of MSS-related myopathy could be confirmed in woozy muscles. We found that these structures are derived from the nuclear envelope and nuclear lamina and associate with proliferations of the sarcoplasmic reticulum. In line with impaired function of BiP secondary to loss of its nucleotide exchange factor Sil1, we observed activation of the unfolded protein response and the endoplasmic-reticulum-associated protein degradation-pathway. Despite initiation of the autophagy-lysosomal system, autophagic clearance was found ineffective which is in agreement with the formation of autophagic vacuoles. This report identifies woozy muscle as a faithful phenocopy of the MSS myopathy. Moreover, we provide a link between two well-established disease mechanisms in skeletal muscle, dysfunction of chaperones and nuclear envelope pathology.

  18. Detection of egg drop syndrome virus antigen or genome by enzyme-linked immunosorbent assay or polymerase chain reaction.

    Science.gov (United States)

    Dhinakar Raj, G; Sivakumar, S; Matheswaran, K; Chandrasekhar, M; Thiagarajan, V; Nachimuthu, K

    2003-10-01

    Mouse monoclonal antibodies (mAbs) were produced against an Indian isolate of egg drop syndrome (EDS) virus and characterized. Four hybridoma clones were secreting mAbs that bound to a 100 kDa protein, presumably the hexon protein. These mAbs were found to cross-react with two other Indian isolates of EDS virus and to the reference UK 127 strain. Three of these mAbs were mapped to the same epitope compared with the other mAb (F8), which bound to a different epitope. An antigen-capture enzyme-linked immunosorbent assay (AC-ELISA) was developed using the F8 mAbs as capture antibody and polyclonal chicken serum against EDS virus as detection antibody. A polymerase chain reaction (PCR) was used to detect the EDS viral genome. Following experimental infection of oestrogen-treated chickens with EDS virus, cloacal swabs, oviduct, uterus and spleen were collected at different days post-infection and used in both AC-ELISA and PCR, directly and after a single passage in embryonated duck eggs. The sensitivity and specificity of antigen detection by AC-ELISA or PCR was 95% and 98%, respectively. For diagnosis of EDS viral infections, PCR is recommended due to its ease and the lack of requirement of prepared reagents such as mAbs or conjugates. We recommend that PCR be performed directly on boiled tissue homogenates. Any negative samples may be passaged in embryonated duck eggs and the allantoic fluids tested by PCR before a conclusive negative diagnosis is given.

  19. First Proliferative Kidney Disease outbreak in Austria, linking to the aetiology of Black Trout Syndrome threatening autochthonous trout populations.

    Science.gov (United States)

    Gorgoglione, Bartolomeo; Kotob, Mohamed H; Unfer, Günter; El-Matbouli, Mansour

    2016-05-01

    Proliferative Kidney Disease (PKD) was diagnosed in juvenile autochthonous brown trout Salmo trutta for the first time in Austria during summer 2014. Cytology showed Tetracapsuloides bryosalmonae sporoblasts, and histology revealed sporogonic (coelozoic) and extrasporogonic (histozoic) stages. Analysis of malacosporean ribosomal small subunit revealed that this strain is closely related to European isolates, although its source is unknown. Infection and high pathogenicity were reproduced upon a pre-restocking test with specific pathogen free (SPF) juvenile trout, resulting in 100% mortality between 28 and 46 d post exposure (dpe), with high ectoparasitosis. Fish showed grade 2 of the Kidney Swelling Index and grade 3 of the PKD histological assessment. T. bryosalmonae enzootic waters were demonstrated in further locations along the River Kamp, with infected bryozoans retrieved up to 6 km upstream of the farm with the PKD outbreak. Fredericella sultana colonies collected from these locations were cultivated in laboratory conditions. Released malacospores successfully induced PKD, and contextually Black Trout Syndrome (BTS), in SPF brown trout. In the absence of co-infections mortality occurred between 59 and 98 dpe, with kidneys enlarged up to 6.74% of total body weight (normal 1.23%). This study confirms the first isolation of a pathogenic myxozoan from an Austrian river tributary of the Danube, where its 2-host life cycle is fully occurring. Its immunosuppressant action could link PKD as a key factor in the multifactorial aetiology of BTS. This T. bryosalmonae isolation provides an impetus to undertake further multi-disciplinary research, aiming to assess the impact of PKD and BTS spreading to central European regions.

  20. 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

  1. Impaired systolic blood pressure recovery and heart rate recovery after graded exercise in patients with metabolic syndrome.

    Science.gov (United States)

    Alihanoglu, Yusuf I; Yildiz, Bekir S; Kilic, I Dogu; Uludag, Burcu; Demirci, Emre E; Zungur, Mustafa; Evrengul, Harun; Kaftan, Asuman H

    2015-01-01

    The aim of this study was to evaluate and compare systolic blood pressure recovery and heart rate recovery (HRR) values obtained at various time intervals after maximal graded exercise treadmill testing between patients with metabolic syndrome (MS) and the controls without MS. To our knowledge, this is the first study indicating systolic blood pressure recovery (SBPR) impairment and its relations to HRR and other variables in this group of patients. The study population included 110 patients with MS (67 men, 43 women; mean age: 46 ± 9 years) and 110 control subjects who did not meet the criteria for MS (58 men, 52 women; mean age: 44 ± 10 years). All patients were selected from nonobese, apparently healthy sedentary individuals who had the ability to perform maximum exercise testing. SBPR was assessed by calculating the ratio of systolic blood pressure (SBP) obtained in the third minute of the recovery period to either the peak-exercise SBP or the SBP in the first minute of the recovery period after graded exercise testing. HRR values were calculated by subtracting the HR at the first, second, third, fourth, and fifth minutes of the recovery period from the HR reached at peak exercise. There was no significant difference found between the 2 groups with respect to age and sex distribution. As expected, patients with MS had higher waist circumference, fasting plasma glucose and serum triglyceride, and lower high-density lipoprotein cholesterol compared with control subjects. All HRR values calculated in the first, second, third, fourth, and fifth minutes were significantly detected lower in the MS group compared with the control group (HRR 1st: 32 ± 10 vs 36 ± 11; P = 0.009; HRR 2nd: 47 ± 10 vs 51 ± 11; P = 0.02; HRR 3rd: 53 ± 11 vs 58 ± 12; P = 0.001; HRR 4th: 57 ± 11 vs 64 ± 12; P 1 in patients with MS (1.01 ± 0.2 vs 0.91 ± 0.1 and 1.01 ± 0.1 vs 0.94 ± 0.1) and these were statistically significant compared with the control group (P exercise

  2. Heart rate recovery after exercise and its relation with neutrophil-to-lymphocyte ratio in patients with cardiac syndrome X.

    Science.gov (United States)

    Yurtdaş, Mustafa; Yaylali, Yalin T; Aladağ, Nesim; Özdemir, Mahmut; Ceylan, Yemlihan; Gençaslan, Murat; Akbulut, Tayyar

    2014-09-01

    The neutrophil-to-lymphocyte ratio (NLR) and the platelet-to-lymphocyte ratio (PLR) are measures of systemic inflammation. Heart rate recovery (HRR) after exercise is influenced by autonomic function. The aim of this study was to ascertain whether HRR and the Duke Treadmill Score (DTS) values are related to NLR and PLR in patients with cardiac syndrome X (CSX). A total of 350 participants were enrolled in the study. Complete blood counts and high-sensitivity C-reactive protein (hsCRP) were obtained. All participants underwent an exercise test. HRR and DTS were calculated after exercise. Abnormal HRR was defined as 12 beats/min or less. CSX and coronary artery disease (CAD) groups had higher NLR, PLR, and hsCRP, and lower HRR and DTS values than the control group (for all, P<0.05). In both CSX and CAD groups, HRR was positively correlated with DTS (r=0.468, P<0.001 and r=0.491, P<0.001, respectively) and negatively correlated with NLR (r=-0.519, P<0.001 and r=-0.612, P<0.001, respectively), PLR (r=-0.422, P<0.001 and r=-0.438, P<0.001, respectively), and hsCRP (r=-0.553, P<0.001 and r=-0.521, P<0.001, respectively). NLR and hsCRP were important two predictors of the presence of lower HRR in both CSX [NLR: odds ratio (OR), 0.395; 95% confidence interval (CI), 0.168-0.925; P=0.032 and hsCRP: OR, 0.748; 95% CI, 0.591-0.945; P=0.015], and CAD groups (NLR: OR, 0.115; 95% CI, 0.026-0.501; P=0.004 and hsCRP: OR, 0.637; 95% CI, 0.455-0.892; P=0.009). CSX patients have higher NLR and PLR and slower HRR and lower DTS, similar to CAD patients, suggesting that CSX patients may be at a higher risk for developing cardiovascular events in the future. NLR may predict autonomic imbalance assessed by HRR in CSX.

  3. Engineered chromosome-based genetic mapping establishes a 3.7 Mb critical genomic region for Down syndrome-associated heart defects in mice.

    Science.gov (United States)

    Liu, Chunhong; Morishima, Masae; Jiang, Xiaoling; Yu, Tao; Meng, Kai; Ray, Debjit; Pao, Annie; Ye, Ping; Parmacek, Michael S; Yu, Y Eugene

    2014-06-01

    Trisomy 21 (Down syndrome, DS) is the most common human genetic anomaly associated with heart defects. Based on evolutionary conservation, DS-associated heart defects have been modeled in mice. By generating and analyzing mouse mutants carrying different genomic rearrangements in human chromosome 21 (Hsa21) syntenic regions, we found the triplication of the Tiam1-Kcnj6 region on mouse chromosome 16 (Mmu16) resulted in DS-related cardiovascular abnormalities. In this study, we developed two tandem duplications spanning the Tiam1-Kcnj6 genomic region on Mmu16 using recombinase-mediated genome engineering, Dp(16)3Yey and Dp(16)4Yey, spanning the 2.1 Mb Tiam1-Il10rb and 3.7 Mb Ifnar1-Kcnj6 regions, respectively. We found that Dp(16)4Yey/+, but not Dp(16)3Yey/+, led to heart defects, suggesting the triplication of the Ifnar1-Kcnj6 region is sufficient to cause DS-associated heart defects. Our transcriptional analysis of Dp(16)4Yey/+ embryos showed that the Hsa21 gene orthologs located within the duplicated interval were expressed at the elevated levels, reflecting the consequences of the gene dosage alterations. Therefore, we have identified a 3.7 Mb genomic region, the smallest critical genomic region, for DS-associated heart defects, and our results should set the stage for the final step to establish the identities of the causal gene(s), whose elevated expression(s) directly underlie this major DS phenotype.

  4. Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA

    DEFF Research Database (Denmark)

    Scheibye-Knudsen, Morten; Tseng, Anne; Jensen, Martin Borch

    2016-01-01

    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...

  5. 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.

  6. Heart attack - discharge

    Science.gov (United States)

    ... nih.gov/pubmed/23166211 . Giugliano RP, Cannon CP, Braunwald E. Non-ST elevation acute coronary syndromes. In: Mann DL, Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of ...

  7. X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.

    Science.gov (United States)

    Savige, Judith; Storey, Helen; Il Cheong, Hae; Gyung Kang, Hee; Park, Eujin; Hilbert, Pascale; Persikov, Anton; Torres-Fernandez, Carmen; Ars, Elisabet; Torra, Roser; Hertz, Jens Michael; Thomassen, Mads; Shagam, Lev; Wang, Dongmao; Wang, Yanyan; Flinter, Frances; Nagel, Mato

    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, retinopathy, lamellated glomerular basement membrane), variant pathogenicity was assessed using currently-accepted criteria, and variants were examined for gene location, and age at renal failure onset. Results were compared using Fisher's exact test (DNA Stata). Altogether 754 new DNA variants were identified, an increase of 25%, predominantly in people of European background. Of the 1168 COL4A5 variants, 504 (43%) were missense mutations, 273 (23%) splicing variants, 73 (6%) nonsense mutations, 169 (14%) short deletions and 76 (7%) complex or large deletions. Only 135 of the 432 Gly residues in the collagenous sequence were substituted (31%), which means that fewer than 10% of all possible variants have been identified. Both missense and nonsense mutations in COL4A5 were not randomly distributed but more common at the 70 CpG sequences (pAla substitutions were underrepresented in all three genes (p< 0.0001) probably because of an association with a milder phenotype. The average age at end-stage renal failure was the same for all mutations in COL4A5 (24.4 ±7.8 years), COL4A3 (23.3 ± 9.3) and COL4A4 (25.4 ± 10.3) (COL4A5 and COL4A3, p = 0.45; COL4A5 and COL4A4, p = 0.55; COL4A3 and COL4A4, p = 0.41). For COL4A5, renal failure occurred sooner with non-missense than missense variants (p<0.01). For the COL4A3 and COL4A4 genes, age at renal failure occurred sooner with two non

  8. 血小板活化与冠心病及冠心病血瘀证相关性的现代研究概况%Relationship between Platelet Activation and Coronary Heart Disease and Heart Blood Stasis Syndrome ( HBSS ) in Coronary Heart Disease

    Institute of Scientific and Technical Information of China (English)

    吴松林

    2011-01-01

    The platelet activation plays a key role in the development of coronary heart disease,and is one of the important pathological mechanism of heart blood stasis syndrome ( HBSS ) in coronary heart disease.Ps and GP Ⅱ b/Ⅲ a are the specific markers for platelet activation.Which can reflect the pathogenesis and development of coronary heart disease sensitively, Measurement of Ps and GP Ⅱ b/Ⅲ a provides help to diagnose CHD sooner, estimate the state of the illness, judge prognosis and assess antithrombotic.Blood stasis syndrome is one of the most common clinical syndromes.The Increasing of Ps and GP Ⅱ b/Ⅲ a can be served as one of the indicators of microdialectical discrimination of illness, and has clinical significance in “xiong bi” of Traditional Chinese Medicine ( TCM ).%血小板活化在冠心病的发生发展中起重要作用,是冠心病血瘀证产生的重要机制之一,P-选择素、GPⅡb/Ⅲa是血小板活化的特异性分子标志物,能较灵敏地反映冠心病的发生发展过程,对冠心病的早期诊断、病情进展、预后判断及抗血栓药物的评估起辅助作用.血瘀证是临床最常见中医证候之一,其指标的增高,可作为冠心病血瘀证的微观辨证指标之一,对中医"胸痹"的诊治有一定的临床意义.

  9. Genetics Home Reference: Simpson-Golabi-Behmel syndrome

    Science.gov (United States)

    ... mental retardation-overgrowth syndrome SDYS SGBS SGBS1 Simpson dysplasia syndrome Simpson-Golabi-Behmel syndrome ... Topic: Congenital Heart Defects Health Topic: Craniofacial Abnormalities Health Topic: ...

  10. R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome.

    Science.gov (United States)

    Preiksaitiene, Egle; Krasovskaja, Natalija; Utkus, Algirdas; Kasnauskiene, Jurate; Meškienė, Raimonda; Paulauskiene, Iveta; Valevičienė, Nomeda R; Kučinskas, Vaidutis

    2015-01-01

    Opitz G/BBB syndrome is a genetically heterogeneous condition, with both autosomal dominant and X-linked forms. The MID1 gene is associated with X-linked Opitz G/BBB syndrome. Most mutations identified are unique, which makes it difficult to assess possible genotype/phenotype correlations. We report on a familial c.1102C>T (p.R368X) mutation in the MID1 gene, previously reported by Cox et al. (Hum Mol Genet 9:2553-2562, 2000), and document it as a recurrent mutation causing Opitz G/BBB syndrome. This mutation may result in various midline defects, including cleft lip/palate, laryngeal cleft, hypertelorism, Dandy-Walker malformation, ventricular septal defect and hypospadias in male patients, with intrafamilial variability. Seven other mutations (c.712G>T, c.829C>T, c.1108A>G, c.1444_1447dupAACA, c.1483C>T, c.1798dupC and entire gene deletions) have been previously reported as recurrent mutations. The presented family with the c.1102C>T mutation provides additional information about the clinical consequences of the nonsense mutation causing premature truncation of the protein at the level of the COS domain.

  11. 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.

  12. Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome

    Directory of Open Access Journals (Sweden)

    Travali Salvatore

    2010-07-01

    Full Text Available Abstract Background ATRX is a severe X-linked disorder characterized by mental retardation, facial dysmorphism, urogenital abnormalities and alpha-thalassemia. The disease is caused by mutations in ATRX gene, which encodes a protein belonging to the SWI/SNF DNA helicase family, a group of proteins involved in the regulation of gene transcription at the chromatin level. In order to identify specific genes involved in the pathogenesis of the disease, we compared, by cDNA microarray, the expression levels of approximately 8500 transcripts between ATRX and normal males of comparable age. Methods cDNA microarray was performed using total RNA from peripheral blood mononuclear cells of ATRX and normal males. Microarray results were validated by quantitative real-time polymerase chain reaction. Results cDNA microarray analysis showed that 35 genes had a lower expression (30-35% of controls while 25 transcripts had a two-fold higher expression in comparison to controls. In the microarray results the probe for oligophrenin-1, a gene known for its involvement in mental retardation, showed a decreased hybridization signal. However, such gene was poorly expressed in blood mononuclear cells and its decrease was not confirmed in the quantitative real-time RT-PCR assay. On the other hand, the expression of an homologous gene, the GTPase regulator associated with the focal adhesion kinase 1/Oligophrenin-1-like (GRAF1/OPHN-1-L, was relatively high in blood mononuclear cells and significantly decreased in ATRX patients. The analysis of the expression pattern of the GRAF1/OPHN-1-L gene in human tissues and organs revealed the predominant brain expression of a novel splicing isoform, called variant-3. Conclusions Our data support the hypothesis of a primary role for altered gene expression in ATRX syndrome and suggest that the GRAF1/OPHN-1-L gene might be involved in the pathogenesis of the mental retardation. Moreover a novel alternative splicing transcript of such

  13. Role of continuous positive airway pressure in patients with combined sleep apnea syndrome without congestive heart failure

    Directory of Open Access Journals (Sweden)

    Shereen Farghaly

    2016-07-01

    Conclusion: CPAP can be effective in combined obstructive and central apnea patients without heart failure with consideration of individual variability. A trial of CPAP titration should be done in those patients.

  14. Intervention in the critically ill neonate and infant with hypoplastic left heart syndrome and intact atrial septum.

    Science.gov (United States)

    Cheatham, J P

    2001-06-01

    Neonates that present with hypoplastic left heart syndrome (HLHS) and intact atrial septum (IAS) pose a major management problem for the pediatric cardiac team. They are critically ill newborns with profound hypoxemia and acidosis that require immediate attention. Controversy exists as to the most appropriate management strategy. In one series where a primary and emergent surgical-staged reconstructive procedure was performed, the in-house hospital mortality was 65% and the overall survival was 17%. With equal abysmal results, transcatheter creation of an atrial septal defect (ASD) using conventional balloon atrial septostomy (BAS) with or without the combination of blade atrial septotomy had an unacceptable high risk of cardiac perforation leading to tamponade and death. However, using more modern transcatheter techniques of transseptal perforation of the atrial septum followed by progressive and serial balloon septoplasty, creating an ASD, significantly reduced the risk of the procedure. In one series, 16 consecutive neonates underwent this type of interventional procedure without procedural mortality. The management strategy of creating an ASD in the catheterization lab followed by Stage I reconstructive surgical repair 3-5 days after the initial catheterization procedure improved the in-house survival to 57%. Unfortunately, there continues to be significant attrition of these patients undergoing Stage II and III reconstructive repair, which supports cardiac transplantation as an alternative strategy. There have been echocardiographic and histopathologic studies of these neonates, and an important echo classification of left atrial morphology has been described with perhaps some prognostic implication. In addition, autopsy specimens have demonstrated significant "arterialization" of the pulmonary venous architecture that likely dooms the patient with single ventricle physiology to a poor outcome. Future improvement in transcatheter techniques and materials offer

  15. Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome.

    Science.gov (United States)

    Wada, Taizo; Yasui, Masahiro; Toma, Tomoko; Nakayama, Yuko; Nishida, Mika; Shimizu, Masaki; Okajima, Michiko; Kasahara, Yoshihito; Koizumi, Shoichi; Inoue, Masami; Kawa, Keisei; Yachie, Akihiro

    2008-09-01

    X-linked severe combined immunodeficiency (XSCID) is caused by mutations of the common gamma chain (gammac) and usually characterized by the absence of T and natural killer (NK) cells. Here, we report an atypical case of XSCID presenting with autologous T and NK cells and Omenn syndrome-like manifestations. The patient carried a splice-site mutation (IVS1+5G>A) that caused most of the mRNA to be incorrectly spliced but produced normally spliced transcript in lesser amount, leading to residual gammac expression and development of T and NK cells. The skin biopsy specimen showed massive infiltration of revertant T cells. Those T cells were found to have a second-site mutation and result in complete restoration of correct splicing. These findings suggest that the clinical spectrum of XSCID is quite broad and includes atypical cases mimicking Omenn syndrome, and highlight the importance of revertant mosaicism as a possible cause for variable phenotypic expression.

  16. MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation

    Directory of Open Access Journals (Sweden)

    Rashid Saleem

    2013-01-01

    Full Text Available MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and cerebellar hypoplasia. It is caused by inactivating calcium/calmodulin-dependent serine protein kinase (CASK gene mutations. We report a 2-year-old girl with severe neurodevelopmental delay, microcephaly, minimal pontine hypoplasia, cerebellar hypoplasia, and normal looking corpus callosum, with whom the conventional cytogenetic studies turned out to be normal, and an array-comparative genomic hybridization (a-CGH analysis showed CASK gene duplication at Xp11.4. Our case highlights the importance of using clinico-radiologic phenotype to guide genetic investigation and it also confirms the role of a-CGH analysis in establishing the genetic diagnosis of MICPCH syndrome, when conventional cytogenetic studies are inconclusive.

  17. 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 ...

  18. 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 (7 links) ...

  19. The effect of combination of hemofilter, pre- and intraoperative methylprednisolone administration on systemic inflammatory response syndrome (SIRS post open heart surgery

    Directory of Open Access Journals (Sweden)

    . Supomo

    2017-02-01

    Full Text Available Systemic inflammatory response syndrome (SIRS occurs in almost all patients whom undergo open heart surgery causes the increase its morbidity and mortality. The effect of pre- and intraoperative methylprednisolone administration combined with hemofilter application in cardiopulmonary bypass machine in the reduction of SIRS incidence remains controversial. This study aimed to evaluate the effect pre- and intraoperative methylprednisolone administration combined with hemofilter on SIRS incidence after open heart surgery. This was an experimental study using prospective randomized open-blinded evaluation (PROBE design. Ninety-five patients from Dr. Sardjito General Hospital, Yogyakarta, and Dr. Cipto Mangunkusumo General Hospital, Jakarta, who had open heart surgery within the period of December 2011 to May 2012 were enrolled in this study. The patients were randomly allocated into two groups i.e. Group A (48 patients received pre-; intra-; and postoperative methylprednisolone (15; 5 and 5 mg/kg BW, respectively and hemofilter and Group B (47 patients just received intra- and postoperative methylprednisolone (15 and 5 mg/kg BW. The SIRS incidence was evaluated in 3; 24; 48 and 72 hours post surgery. This study showed that the SIRS incidence in Group B at 3 (OR= 0.12; 95%CI=0.03-0.39; p< 0.001 and 24 (OR= 0.38; 95%CI=0.14-0.996; p< 0.031 hours postoperative were significantly higher than that in Group A. In conclusion, pre- and intraoperative methylprednisolone administration combined hemofilter significantly decrease the SIRS incidence post open heart surgery.

  20. Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11

    Science.gov (United States)

    Rea, Gillian; Homfray, Tessa; Till, Jan; Roses-Noguer, Ferran; Buchan, Rachel J.; Wilkinson, Sam; Wilk, Alicja; Walsh, Roddy; John, Shibu; McKee, Shane; Stewart, Fiona J.; Murday, Victoria; Taylor, Robert W.; Ashworth, Michael; Baksi, A. John; Daubeney, Piers; Prasad, Sanjay; Barton, Paul J.R.; Cook, Stuart A.; Ware, James S.

    2017-01-01

    Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defects syndrome (MLS syndrome). Here we report an additional case of histiocytoid CM, which carries a de novo nonsense variant in NDUFB11 (ENST00000276062.8: c.262C > T; p.[Arg88*]) identified using whole-exome sequencing (WES) of a family trio. An identical variant has been previously reported in association with MLS syndrome. The case we describe here lacked the diagnostic features of MLS syndrome, but a detailed clinical comparison of the two cases revealed significant phenotypic overlap. Heterozygous variants in HCCS (which encodes an important mitochondrially targeted protein) and COX7B, which, like NDUFB11, encodes a protein of the MRC, have also previously been identified in MLS syndrome including a case with features of both MLS syndrome and histiocytoid CM. However, a systematic review of WES data from previously published histiocytoid CM cases, alongside four additional cases presented here for the first time, did not identify any variants in these genes. We conclude that NDUFB11 variants play a role in the pathogenesis of both histiocytoid CM and MLS and that these disorders are allelic (genetically related). PMID:28050600