WorldWideScience

Sample records for cardiomyopathy triple aetiology

  1. Cardiomyopathy

    Science.gov (United States)

    ... as a disorder that causes the buildup of abnormal proteins (amyloidosis), a disease that causes inflammation and can cause lumps of ... Cardiomyopathy can lead to abnormal heart rhythms. These abnormal heart rhythms ... other types of heart disease by living a heart-healthy lifestyle and making ...

  2. Dilated Cardiomyopathy

    Science.gov (United States)

    ... Family history of dilated cardiomyopathy Inflammation of heart muscle from immune system disorders, such as lupus Neuromuscular disorders, such as muscular dystrophy Complications Complications from dilated cardiomyopathy include: Heart ...

  3. Dilated cardiomyopathy

    International Nuclear Information System (INIS)

    Salvatore, M.; Cuocolo, A.

    1988-01-01

    Radionuclide techniques are easily obtainable, noninvasive examinations that provide useful information in the evaluation, diagnosis and management of patients with dilated cardiomyopathy. The gated blood pool scan allows the assessment of ventricular size, configuration, and wall and septal thickness. These data allow the functional class of the cardiomyopathy (congestive, restrictive or hypertrophic) to be defined. Often THallium-201 myocardial perfusion imaging adds further information and is particularly useful in distinguishing congestive cardiomyopathy from severe coronary artery disease and in depicting septal abnormalities in hipertrophic cardiomyopathy. Useful as these techniques are, they are not substitutes for conventional approaches to diagnosis. Careful history taking and physical examination, as well as scrutiny of the electrocardiogram, chest X-ray and echocardiogram should be standard practice for the evaluation of patients with suspected cardiomyopathy. Judicious use of noninvasive techniques may obviate the need for cardiac catheterization in many patients

  4. Restrictive cardiomyopathy

    Science.gov (United States)

    ... People with restrictive cardiomyopathy may be heart transplant candidates. The outlook depends on the cause of the ... www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. ...

  5. Peripartum Cardiomyopathy

    Science.gov (United States)

    ... short- ness of breath, and palpitations. •  Electrocardiogram (heart tracing) to assess heart rate and rhythm, to look ... Accessed January 22, 2013. The Peripartum Cardiomyopathy Network Web site. http: / / www. peripartumcmnetwork. pitt. edu. Accessed January ...

  6. Mitochondrial cardiomyopathies

    Directory of Open Access Journals (Sweden)

    Ayman W. El-Hattab

    2016-07-01

    Full Text Available Mitochondria are found in all nucleated human cells and perform a variety of essential functions, including the generation of cellular energy. Mitochondria are under dual genome control. Only a small fraction of their proteins are encoded by mitochondrial DNA (mtDNA while more than 99% of them are encoded by nuclear DNA (nDNA. Mutations in mtDNA or mitochondria-related nDNA genes result in mitochondrial dysfunction leading to insufficient energy production required to meet the needs of various organs, particularly those with high energy requirements, including the central nervous system, skeletal and cardiac muscles, kidneys, liver, and endocrine system. Because cardiac muscles are one of the high energy demanding tissues, cardiac involvement occurs in mitochondrial diseases with cardiomyopathies being one of the most frequent cardiac manifestations found in these disorders. Cardiomyopathy is estimated to occur in 20-40% of children with mitochondrial diseases. Mitochondrial cardiomyopathies can vary in severity from asymptomatic status to severe manifestations including heart failure, arrhythmias, and sudden cardiac death. Hypertrophic cardiomyopathy is the most common type; however, mitochondrial cardiomyopathies might also present as dilated, restrictive, left ventricular noncompaction, and histiocytoid cardiomyopathies. Cardiomyopathies are frequent manifestations of mitochondrial diseases associated with defects in electron transport chain (ETC complexes subunits and their assembly factors, mitochondrial tRNAs, rRNAs, ribosomal proteins, and translation factors, mtDNA maintenance, and coenzyme Q10 synthesis. Other mitochondrial diseases with cardiomyopathies include Barth syndrome, Sengers syndrome, TMEM70-related mitochondrial complex V deficiency, and Friedreich ataxia.

  7. Restrictive Cardiomyopathy

    Science.gov (United States)

    ... up in the circulatory system. In time, the heart fails. What causes it? Restrictive cardiomyopathy is often caused by diseases in other parts of the body. One known cause is cardiac ... build up in the heart tissue, making the tissue stiff and thickened. Cardiac ...

  8. Cardiomyopathy in neurological disorders.

    Science.gov (United States)

    Finsterer, Josef; Stöllberger, Claudia; Wahbi, Karim

    2013-01-01

    According to the American Heart Association, cardiomyopathies are classified as primary (solely or predominantly confined to heart muscle), secondary (those showing pathological myocardial involvement as part of a neuromuscular disorder) and those in which cardiomyopathy is the first/predominant manifestation of a neuromuscular disorder. Cardiomyopathies may be further classified as hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, or unclassified cardiomyopathy (noncompaction, Takotsubo-cardiomyopathy). This review focuses on secondary cardiomyopathies and those in which cardiomyopathy is the predominant manifestation of a myopathy. Any of them may cause neurological disease, and any of them may be a manifestation of a neurological disorder. Neurological disease most frequently caused by cardiomyopathies is ischemic stroke, followed by transitory ischemic attack, syncope, or vertigo. Neurological disease, which most frequently manifests with cardiomyopathies are the neuromuscular disorders. Most commonly associated with cardiomyopathies are muscular dystrophies, myofibrillar myopathies, congenital myopathies and metabolic myopathies. Management of neurological disease caused by cardiomyopathies is not at variance from the same neurological disorders due to other causes. Management of secondary cardiomyopathies is not different from that of cardiomyopathies due to other causes either. Patients with neuromuscular disorders require early cardiologic investigations and close follow-ups, patients with cardiomyopathies require neurological investigation and avoidance of muscle toxic medication if a neuromuscular disorder is diagnosed. Which patients with cardiomyopathy profit most from primary stroke prevention is unsolved and requires further investigations. Copyright © 2013 Elsevier Inc. All rights reserved.

  9. Takotsubo cardiomyopathy

    DEFF Research Database (Denmark)

    Nielsen, Lene Hüche; Munk, Kim; Goetzsche, Ole

    2009-01-01

    INTRODUCTION: Sparse information with regard to the electrocardiographic (ECG) changes in Takotsubo cardiomyopathy (TC) is available. The purpose of this study was to describe the clinical characteristics and electrocardiographic changes in a Danish cohort of patients with TC. We discuss the pote......INTRODUCTION: Sparse information with regard to the electrocardiographic (ECG) changes in Takotsubo cardiomyopathy (TC) is available. The purpose of this study was to describe the clinical characteristics and electrocardiographic changes in a Danish cohort of patients with TC. We discuss...... retrospectively from medical records and the hospitals laboratory database. RESULTS: Seven patients with TC were identified comprising six females and one male (mean age 70, range 53-81 years). In the acute phase all patients had ECG changes compatible with ST-elevation acute myocardial infarction (STEMI...

  10. MR imaging in cardiomyopathies

    International Nuclear Information System (INIS)

    Miller, S.; Riessen, R.

    2005-01-01

    According to the WHO classification, cardiomyopathies are a group of diseases which are associated with myocardial dysfunction and can be classified either as primary or secondary cardiomyopathies. Genetic disorders have been identified in certain primary cardiomyopathies, however often the etiology remains unknown. The term ''secondary cardiomyopathy'' is used to specify diseases with the clinical indications of a cardiomyopathy, but can be attributed to a certain pathophysiological mechanism such as exposure to toxic substances, metabolic syndromes or systemic diseases. Based on morphological and functional criteria, primary cardiomyopathies are divided into dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy (ARVC) and restrictive cardiomyopathy (RCM). During the last two decades MR imaging has emerged to a well established diagnostic tool for the understanding and treatment of cardiomyopathies. Morphological and functional information can be achieved with a high level of accuracy and reproducibility. Tissue alteration of the myocardium can be detected assessing regional contrast enhancement, T1- and T2-signal intensities and chemical shift phenomena. This article describes characteristic aspects of MR imaging for the diagnosis of primary and secondary cardiomyopathies. (orig.)

  11. Peripartum cardiomyopathy

    International Nuclear Information System (INIS)

    Velasquez V, Jorge E; Duque R, Mauricio

    2008-01-01

    Peripartum cardiomyopathy is a clinical entity with a variable frequency according to the zone of the study. It is characterized by a systolic dysfunction of the left ventricle and posterior appearance of heart failure symptoms that occur during the last month of pregnancy and the first post-partum months. Its etiology isn't still clear, but different theories are proposed based on inflammatory, infectious and autoimmune processes. Alterations related to oxidative stress that could largely explain this pathology were recently described. Its clinical presentation has a big similitude with all other causes of heart failure although atypical presentations have been described. Its diagnosis requires a high suspicion level and must be considered in any woman with symptoms of heart failure during the peripartum. The conventional treatment of chronic heart failure that includes beta-blockers, angiotensin converting enzyme inhibitors and diuretics, in addition to the advances in diagnosis and management of acute heart failure, allowed changing the history of the disease by lowering mortality and recovering systolic function of the left ventricle. Gestations posterior to the development of this entity will depend on the complete recovery of heart function without lowering the risk of recurrence. There still remain many questions to answer in areas like etiology, risk factors, treatment and prognosis markers that may allow to prevent and to manage in an appropriate and safe way both the mother and her son.

  12. Lone ventricular cardiomyopathy,

    African Journals Online (AJOL)

    ... (I) cardiac catheterisation, including coronary arteriography and pulmonary ... described existence of lone ventricular idiopathic ... spectrum of classic idiopathic dilated cardiomyopathy. ... endomyocardial fibrosis, and from discussions at an.

  13. Genetics Home Reference: arrhythmogenic right ventricular cardiomyopathy

    Science.gov (United States)

    ... cardiomyopathy Merck Manual Consumer Version: Cardiomyopathy Merck Manual Consumer Version: Overview of Abnormal Heart Rhythms Orphanet: Arrhythmogenic right ventricular cardiomyopathy Orphanet: Familial isolated arrhythmogenic right ventricular ...

  14. Cardiac MRI in restrictive cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Gupta, A. [Department of Cardiovascular Radiology, All India Institute of Medical Sciences, Ansari Nagar, Delhi (India); Singh Gulati, G., E-mail: gulatigurpreet@rediffmail.com [Department of Cardiovascular Radiology, All India Institute of Medical Sciences, Ansari Nagar, Delhi (India); Seth, S. [Department of Cardiology, All India Institute of Medical Sciences, Ansari Nagar, Delhi (India); Sharma, S. [Department of Cardiovascular Radiology, All India Institute of Medical Sciences, Ansari Nagar, Delhi (India)

    2012-02-15

    Restrictive cardiomyopathy (RCM) is a specific group of heart muscle disorders characterized by inadequate ventricular relaxation during diastole. This leads to diastolic dysfunction with relative preservation of systolic function. Although short axis systolic function is usually preserved in RCM, the long axis systolic function may be severely impaired. Confirmation of diagnosis and information regarding aetiology, extent of myocardial damage, and response to treatment requires imaging. Importantly, differentiation from constrictive pericarditis (CCP) is needed, as only the latter is managed surgically. Echocardiography is the initial cardiac imaging technique but cannot reliably suggest a tissue diagnosis; although recent advances, especially tissue Doppler imaging and spectral tracking, have improved its ability to differentiate RCM from CCP. Cardiac catheterization is the reference standard, but is invasive, two-dimensional, and does not aid myocardial characterization. Cardiac magnetic resonance (CMR) is a versatile technique providing anatomical, morphological and functional information. In recent years, it has been shown to provide important information regarding disease mechanisms, and also been found useful to guide treatment, assess its outcome and predict patient prognosis. This review describes the CMR features of RCM, appearances in various diseases, its overall role in patient management, and how it compares with other imaging techniques.

  15. What Is Cardiomyopathy?

    Science.gov (United States)

    ... underlying conditions, such as diabetes and high blood pressure . Cardiomyopathy often runs in families. Your doctor may suggest that your parents, brothers and sisters, and children get checked to see whether they have the ...

  16. Aetiology of idiopathic granulomatous mastitis.

    Science.gov (United States)

    Altintoprak, Fatih; Kivilcim, Taner; Ozkan, Orhan Veli

    2014-12-16

    Idiopathic granulomatous mastitis is a rare chronic inflammatory lesion of the breast that can clinically and radiographically mimic breast carcinoma. The most common clinical presentation is an unilateral, discrete breast mass, nipple retraction and even a sinus formation often associated with an inflammation of the overlying skin. The etiology of idiopathic granulomatous mastitis is still obscure. Its treatment remains controversial. The cause may be the autoimmune process, infection, a chemical reaction associated with oral contraceptive pills, or even lactation. Various factors, including hormonal imbalance, autoimmunity, unknown microbiological agents, smoking and α 1-antitrypsin deficiency have been suggested to play a role in disease aetiology. In this review, causing factors in the aetiology of idiopathic granulomatous mastitis are reviewed in detail.

  17. Genetics of Human and Canine Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Siobhan Simpson

    2015-01-01

    Full Text Available Cardiovascular disease is a leading cause of death in both humans and dogs. Dilated cardiomyopathy (DCM accounts for a large number of these cases, reported to be the third most common form of cardiac disease in humans and the second most common in dogs. In human studies of DCM there are more than 50 genetic loci associated with the disease. Despite canine DCM having similar disease progression to human DCM studies into the genetic basis of canine DCM lag far behind those of human DCM. In this review the aetiology, epidemiology, and clinical characteristics of canine DCM are examined, along with highlighting possible different subtypes of canine DCM and their potential relevance to human DCM. Finally the current position of genetic research into canine and human DCM, including the genetic loci, is identified and the reasons many studies may have failed to find a genetic association with canine DCM are reviewed.

  18. Genetics of Human and Canine Dilated Cardiomyopathy.

    Science.gov (United States)

    Simpson, Siobhan; Edwards, Jennifer; Ferguson-Mignan, Thomas F N; Cobb, Malcolm; Mongan, Nigel P; Rutland, Catrin S

    2015-01-01

    Cardiovascular disease is a leading cause of death in both humans and dogs. Dilated cardiomyopathy (DCM) accounts for a large number of these cases, reported to be the third most common form of cardiac disease in humans and the second most common in dogs. In human studies of DCM there are more than 50 genetic loci associated with the disease. Despite canine DCM having similar disease progression to human DCM studies into the genetic basis of canine DCM lag far behind those of human DCM. In this review the aetiology, epidemiology, and clinical characteristics of canine DCM are examined, along with highlighting possible different subtypes of canine DCM and their potential relevance to human DCM. Finally the current position of genetic research into canine and human DCM, including the genetic loci, is identified and the reasons many studies may have failed to find a genetic association with canine DCM are reviewed.

  19. Takotsubo cardiomyopathy following subarachnoid hemorrhage

    International Nuclear Information System (INIS)

    Wajnberg, Eduardo

    2012-01-01

    Takotsubo cardiomyopathy corresponds to a syndrome characterized by a transient myocardial dysfunction affecting the left ventricular apex that classically occurs after major physical or emotional stress (also called 'broken heart syndrome' or 'stress-induced cardiomyopathy'). The author describes the case of a patient with takotsubo cardiomyopathy induced by subarachnoid hemorrhage. (author)

  20. Pacing-induced Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Alex Koo

    2017-10-01

    Full Text Available We present a case of pacing-induced cardiomyopathy. The patient presented with clinical symptoms of dyspnea, leg swelling, and orthopnea several months after a dual-chambered pacemaker was placed for third-degree heart block. The echocardiogram demonstrated a depressed ejection fraction. Coronary angiography was performed, which showed widely patent vessels. Single- and dual-chambered pacemakers create ventricular dyssynchrony, which in turn can cause structural, molecular changes leading to cardiomyopathy. With early intervention of biventricular pacemaker replacement, these changes can be reversible; thus, a timely diagnosis and awareness is warranted.

  1. Cardiomyopathy induced by anthracycline

    International Nuclear Information System (INIS)

    Quiroz, Isabel; Espinoza, Gerson; Poveda, Maria; Flores, Walter

    2002-01-01

    Anthracycline cardiomyopathy is less frequently encountered nowadays, due to the well recognized dose limitations and cardiac monitoring protocols used by chemotherapy centers. However, it is a condition that will persist due to the sensitivity of some patients to these drugs and the necessity for large doses to be used for certain individuals. We have demonstrated the benefit of angiotensin converting enzyme inhibitor therapy and would consider introducing these compounds at the earliest opportunity. The use of probucol and vitamins as antioxidants capable of preventing the onset of cardiomyopathy in humans appears to require further investigation but may significantly reduce the incidence of this condition in the future. (The author)

  2. Cardiomyopathy Following Latrodectus Envenomation

    Directory of Open Access Journals (Sweden)

    Levine, Michael

    2010-12-01

    Full Text Available Latrodectus envenomations are common throughout the United States and the world. While many envenomations can result in catecholamine release with resultant hypertension and tachycardia, myocarditis is very rare. We describe a case of a 22- year-old male who sustained a Latrodectus envenomation complicated by cardiomyopathy. [West J Emerg Med. 2010; 11(5:521-523.

  3. Hypertrophic Cardiomyopathy Association

    Science.gov (United States)

    ... be donated to Hypertrophic Cardiomyopathy Association. iGive.com - Online Shopping Joing iGive.com to earn money for the ... it works, check out the iGive website . AmazonSmile - Online Shopping Amazon donates 0.5% of the purchase price ...

  4. Hormones and postpartum cardiomyopathy.

    NARCIS (Netherlands)

    Clapp, C.; Thebault, S.C.; Martinez de la Escalera, G.M.

    2007-01-01

    Prolactin, a hormone fundamental for lactation, was recently shown to mediate postpartum cardiomyopathy, a life-threatening disease in late-term and lactating mothers. The detrimental effect of prolactin results from myocardial upregulation of cathepsin-D, which in turn cleaves prolactin to a 16 kDa

  5. Schizophrenia : Current concepts in aetiology

    Directory of Open Access Journals (Sweden)

    P S Bhat

    2014-01-01

    Full Text Available Schizophrenia is perhaps the most devastating neuropsychiatric illness. Worldwide, its prevalence rate is about 1%. Schizophrenia is considered a neurodevelopmental disorder involving the interplay of susceptibility genes and environmental factors. There is a wide range of pathologic findings, but there is no specific or diagnostic laboratory abnormality. Till date, the aetiology, neuropathology, and pathophysiology of schizophrenia remain elusive. Over the last forty years, the dopaminergic model has been the leading neurochemical hypothesis of schizophrenia. Yet it remains unlikely that dopaminergic dysfunction, on its own. Glutamatergic models provide an alternate approach for conceptualizing the brain abnormalities associated with schizophrenia. New pharmacological and behavioral approaches aimed at potentiating glutamatergic neurotransmission, offer new hopeforfuture clinical development

  6. Takotsubo (Stress Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Justin J Hourmozdi

    2017-01-01

    Full Text Available History of present illness: A 59-year-old male presented to the emergency department in shock from pneumonia. The patient was initially afebrile, pulse rate 120 beats per minute, blood pressure 117/69 mmHg, respiratory rate 42 breaths per minute, pulse oximetry 94% on a non-rebreather mask and a lactate of 14 mmol/L. He became progressively more hypotensive despite fluid resuscitation and was started on norepinephrine. Shortly after, the patient developed torsades de pointes that was terminated with intravenous push magnesium. His initial ECG had shown sinus tachycardia; however, repeat ECG showed ST-segment elevation in the inferolateral leads and the patient had troponin I elevation that peaked at 16 ng/mL. Significant findings: Bedside echocardiography showed the findings consistent with Takotsubo cardiomyopathy. Echocardiographic images are shown in subxiphoid (A and apical four chamber (B views. Note the apical ballooning appearance (asterisk of the left ventricle (LV. Discussion: Formal echocardiography confirmed features classic for Takotsubo (stress cardiomyopathy, including globally depressed left ventricle (LV ejection fraction, systolic apical ballooning appearance of the LV, mid and apical segments of LV depression, and hyper kinesis of the basal walls. Takotsubo cardiomyopathy is a syndrome known to cause ST-segment elevation on ECG, transient LV dysfunction, and dysrhythmia in the absence of acute obstructive coronary disease. There is no consensus on diagnostic criteria; however, these criteria are commonly used: 1 transient hypokinesis, akinesis, or dyskinesis in the LV mid-segments with or without apical involvement; regional wall motion abnormalities that extend beyond a single epicardial vascular distribution; and frequently, but not always, a stressful trigger 2 the absence of acute coronary disease or angiographic evidence of acute plaque rupture 3 new ECG abnormalities (ST-segment elevation and/or T-wave inversion or modest

  7. Hypertrophic Cardiomyopathy: Clinical Update.

    Science.gov (United States)

    Geske, Jeffrey B; Ommen, Steve R; Gersh, Bernard J

    2018-05-01

    Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy, manifesting as left ventricular hypertrophy in the absence of a secondary cause. The genetic underpinnings of HCM arise largely from mutations of sarcomeric proteins; however, the specific underlying mutation often remains undetermined. Patient presentation is phenotypically diverse, ranging from asymptomatic to heart failure or sudden cardiac death. Left ventricular hypertrophy and abnormal ventricular configuration result in dynamic left ventricular outflow obstruction in most patients. The goal of therapeutic interventions is largely to reduce dynamic obstruction, with treatment modalities spanning lifestyle modifications, pharmacotherapies, and septal reduction therapies. A small subset of patients with HCM will experience sudden cardiac death, and risk stratification remains a clinical challenge. This paper presents a clinical update for diagnosis, family screening, clinical imaging, risk stratification, and management of symptoms in patients with HCM. Copyright © 2018 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  8. MRI of the cardiomyopathies

    International Nuclear Information System (INIS)

    Di Cesare, Ernesto

    2001-01-01

    We examined the potentialities of Magnetic resonance imaging (MRI) in the evaluation of the main cardiomyopathies: hypertrophic, dilated, restrictive and arrhythmogenic right ventricular. The hypertrophic cardiomyopathy is generally adequately investigated by echocardiography, that well defines the myocardial thickening and the obstruction of the left ventricular output. However, by echocardiography we still have difficulties in the evaluation of the apex of the left ventricle and the right ventricle involvement. MRI provides a complete evaluation of the heart with a clear evidence also of the echocardiographic dark zones by means of a clear evidence of the apex of the right ventricle. The dilated form is also well investigated by MRI that provides a clear evaluation of the volumes, mass and ejection fraction by means of the 3D analysis including conditions of the ventricular remodelling. Moreover, this technique helps in the differential diagnosis of acute myocarditis. In the acute phase of myocarditis (first 2 weeks), in fact, the myocardium produces high signal intensity on the T2 weighted sequences due to the presence of oedema. The third form of cardiomyopathy is the restrictive one, characterised by reduced diastolic filling and diastolic volume, normality of the systolic function and parietal thickness, interstitial fibrosis and enlargement of both atria. The mean potentiality of MRI is related to the differential diagnosis with constrictive pericarditis. Only in the former, the pericardium appears irregularly thickened with areas exceeding 4 mm of pericardial thickness. Finally, the right ventricular arrhythmogenic cardiomyopathy represents the main indication to MRI evaluation. With this imaging modality we are can obtain a clear morpho-functional evaluation of the right ventricle and distinguish the intramyocardial adipose substitution characterised by areas of high signal in the myocardium

  9. Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy

    NARCIS (Netherlands)

    K.Y. van Spaendonck-Zwarts (Karin); J.P. van Tintelen (Peter); D.J. van Veldhuisen (Dirk); R. van der Werf (Rik); J.D.H. Jongbloed (Jan); W.J. Paulus (Walter); D. Dooijes (Dennis); M.P. van den Berg (Maarten)

    2010-01-01

    textabstractBACKGROUND-: Anecdotal cases of familial clustering of peripartum cardiomyopathy (PPCM) and familial occurrences of PPCM and idiopathic dilated cardiomyopathy (DCM) together have been observed, suggesting that genetic factors play a role in the pathogenesis of PPCM. We hypothesized that

  10. Cardiomyopathy in the pediatric patients

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    2018-04-01

    Full Text Available Pediatric cardiomyopathies are a group of myocardial diseases with complex taxonomies. Cardiomyopathy can occur in children at any age, and it is a common cause of heart failure and heart transplantation in children. The incidence of pediatric cardiomyopathy is increasing with time. They may be associated with variable comorbidities, which are most often arrhythmia, heart failure, and sudden death. Medical imaging technologies, including echocardiography, cardiac magnetic resonance, and nuclear cardiology, are helpful in reaching a diagnosis of cardiomyopathy. Nevertheless, endomyocardial biopsy is the final diagnostic method of diagnosis. Patients warrant surgical operations, such as palliative operations, bridging operations, ventricular septal maneuvers, and heart transplantation, if pharmaceutical therapies are ineffective. Individual therapeutic regimens due to pediatric characteristics, genetic factors, and pathogenesis may improve the effects of treatment and patients' survival. Key Words: cardiomyopathy, classification, pediatrics

  11. ACE I/D polymorphism in Indian patients with hypertrophic cardiomyopathy and dilated cardiomyopathy

    DEFF Research Database (Denmark)

    Rai, Taranjit Singh; Dhandapany, Perundurai Subramaniam; Ahluwalia, Tarun Veer Singh

    2008-01-01

    The study was carried to determine the association of angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism with the risk of hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and restrictive cardiomyopathy (RCM).......The study was carried to determine the association of angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism with the risk of hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and restrictive cardiomyopathy (RCM)....

  12. Cardiac angiogenic imbalance leads to peripartum cardiomyopathy.

    Science.gov (United States)

    Patten, Ian S; Rana, Sarosh; Shahul, Sajid; Rowe, Glenn C; Jang, Cholsoon; Liu, Laura; Hacker, Michele R; Rhee, Julie S; Mitchell, John; Mahmood, Feroze; Hess, Philip; Farrell, Caitlin; Koulisis, Nicole; Khankin, Eliyahu V; Burke, Suzanne D; Tudorache, Igor; Bauersachs, Johann; del Monte, Federica; Hilfiker-Kleiner, Denise; Karumanchi, S Ananth; Arany, Zoltan

    2012-05-09

    Peripartum cardiomyopathy (PPCM) is an often fatal disease that affects pregnant women who are near delivery, and it occurs more frequently in women with pre-eclampsia and/or multiple gestation. The aetiology of PPCM, and why it is associated with pre-eclampsia, remain unknown. Here we show that PPCM is associated with a systemic angiogenic imbalance, accentuated by pre-eclampsia. Mice that lack cardiac PGC-1α, a powerful regulator of angiogenesis, develop profound PPCM. Importantly, the PPCM is entirely rescued by pro-angiogenic therapies. In humans, the placenta in late gestation secretes VEGF inhibitors like soluble FLT1 (sFLT1), and this is accentuated by multiple gestation and pre-eclampsia. This anti-angiogenic environment is accompanied by subclinical cardiac dysfunction, the extent of which correlates with circulating levels of sFLT1. Exogenous sFLT1 alone caused diastolic dysfunction in wild-type mice, and profound systolic dysfunction in mice lacking cardiac PGC-1α. Finally, plasma samples from women with PPCM contained abnormally high levels of sFLT1. These data indicate that PPCM is mainly a vascular disease, caused by excess anti-angiogenic signalling in the peripartum period. The data also explain how late pregnancy poses a threat to cardiac homeostasis, and why pre-eclampsia and multiple gestation are important risk factors for the development of PPCM.

  13. Catecholamine induced cardiomyopathy in pheochromocytoma

    Directory of Open Access Journals (Sweden)

    Ron Thomas Varghese

    2013-01-01

    Full Text Available Catecholamine induced cardiomyopathy in the setting of pheochromocytoma is an unusual clinical entity. Earlier studies have reported left ventricular dysfunction in around 10% of subjects with pheochromocytoma. [1] Catecholamine induced vasoconstriction, direct toxic effect of byproducts of catecholamine degradation and direct receptor-mediated mechanisms are thought to contribute to cardiomyopathy in subjects with pheochromocytoma. The presentation remains a diagnostic challenge as patients may already have hypertensive heart disease and acute coronary syndrome on account of uncontrolled secondary hypertension. We report a case of a 42-year-old male, who presented with features of pheochromocytoma induced cardiomyopathy.

  14. Microfibrillar cardiomyopathy: A rare case

    Directory of Open Access Journals (Sweden)

    Narender Kumar

    2011-01-01

    Full Text Available Microfibrillar cardiomyopathy is a very rare cause of restrictive cardiomyopathy (RCM. The index case was a male patient who presented with shortness of breath and pedal edema. Further clinical investigations favored a clinical diagnosis of RCM. An endomyocardial biopsy revealed subendocardial and interstitial hyaline eosinophillic material resembling amyloid that did not stain with Congo red. An electron microscopic examination showed that this material was composed of twisted linear and bundles of tangled microfibrils. The etiology of the microfibrillar deposition is currently unknown. The pathologists should entertain the diagnosis of microfibrillar cardiomyopathy in suspected cases of amyloidosis that are negative for Congo red.

  15. Genetics of cardiomyopathies in children

    Directory of Open Access Journals (Sweden)

    Matteo Vatta

    2011-08-01

    Full Text Available Cardiomyopathies are diseases of the heart muscle leading to heart failure and/or an increased risk of arrhythmogenic sudden cardiac death. These disorders represent a major cause of morbidity and mortality in children. In childhood forms of cardiomyopathy, genetic etiologies are frequent, but non-genetic or acquired causes, such viral infection, also play a significant role. In the last twenty years, the genetic causes of cardiomyopathies have been increasingly identified and clinical correlations are beginning to be defined. Here we present an overview of the recent advances in our understanding of the genetics of cardiomyopathies in children and what is known about the pathophysiological mechanisms underlying these gene-related forms of disease.

  16. Diabetic Cardiomyopathy: Bench to Bedside

    Science.gov (United States)

    Schilling, Joel D.; Mann, Douglas L.

    2012-01-01

    The study of diabetic cardiomyopathy (diabetic CM) is an area of significant interest given the strong association between diabetes and the risk of heart failure. Many unanswered questions remain regarding the clinical definition and pathogenesis of this metabolic cardiomyopathy. This article reviews the current understanding of diabetic CM with a particular emphasis on the unresolved issues that have limited translation of scientific discovery to patient bedside. PMID:22999244

  17. Dynamic bowel obstruction: aetiology, clinical presentation ...

    African Journals Online (AJOL)

    This study was conducted to describe in our region, the aetiology, clinical presentation, management and outcome of dynamic bowel obstruction. Data were analyzed using SPSS software system. A total of 342 patients were studied. Males outnumbered females by a ratio of 2.1: 1. The median age of patients at presentation ...

  18. Dynamic bowel obstruction: aetiology, clinical presentation ...

    African Journals Online (AJOL)

    2005). This makes it essential that studies are made periodically in every region to define the local causes with the idea to do work on their prevention (Adhikari et al., 2010). This study was conducted to describe in our region, the aetiology, clinical presentation, management and outcome of dynamic bowel obstruction.

  19. Peripartum Cardiomyopathy: Moving Towards a More Central Role of Genetics#

    Science.gov (United States)

    Cemin, Roberto; Janardhanan, Rajesh; Donazzan, Luca; Daves, Massimo

    2013-01-01

    Peripartum cardiomyopathy (PCM) is a relatively rare disease with potentially devasting consequences requiring prompt identification and correct treatment. Overall prognosis is good in majority of the cases, although some patients may progress to irreversible heart failure. Early diagnosis is important and effective treatment reduces mortality rates and increases the chance of complete recovery of ventricular systolic function. The aetiology and pathogenesis seems to be multifactorial and poorly understood, with the available literature rather conflicting. In recent years, there has been increased interest in the role played by genetic predisposition in the development of PCM. It probably develops as a result of a complex interaction of pregnancy-associated factors and genetic factors and recently there have been many observations pointing out the central role played by a genetic predisposition. The direct and indirect observations on genetic susceptibility may offer new insights into the pathogenesis of PCM. However, larger studies are needed before advising routine genetic testing in these patients. PMID:23909634

  20. Quantification of coronary flow reserve in patients with ischaemic and non-ischaemic cardiomyopathy and its association with clinical outcomes.

    Science.gov (United States)

    Majmudar, Maulik D; Murthy, Venkatesh L; Shah, Ravi V; Kolli, Swathy; Mousavi, Negareh; Foster, Courtney R; Hainer, Jon; Blankstein, Ron; Dorbala, Sharmila; Sitek, Arkadiusz; Stevenson, Lynne W; Mehra, Mandeep R; Di Carli, Marcelo F

    2015-08-01

    Patients with left ventricular systolic dysfunction frequently show abnormal coronary vascular function, even in the absence of overt coronary artery disease. Moreover, the severity of vascular dysfunction might be related to the aetiology of cardiomyopathy.We sought to determine the incremental value of assessing coronary vascular dysfunction among patients with ischaemic (ICM) and non-ischaemic (NICM) cardiomyopathy at risk for adverse cardiovascular outcomes. Coronary flow reserve (CFR, stress/rest myocardial blood flow) was quantified in 510 consecutive patients with rest left ventricular ejection fraction (LVEF) ≤45% referred for rest/stress myocardial perfusion PET imaging. The primary end point was a composite of major adverse cardiovascular events (MACE) including cardiac death, heart failure hospitalization, late revascularization, and aborted sudden cardiac death.Median follow-up was 8.2 months. Cox proportional hazards model was used to adjust for clinical variables. The annualized MACE rate was 26.3%. Patients in the lowest two tertiles of CFR (CFR ≤ 1.65) experienced higher MACE rates than those in the highest tertile (32.6 vs. 15.5% per year, respectively, P = 0.004), irrespective of aetiology of cardiomyopathy. Impaired coronary vascular function, as assessed by reduced CFR by PET imaging, is common in patients with both ischaemic and non-ischaemic cardiomyopathy and is associated with MACE. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2015. For permissions please email: journals.permissions@oup.com.

  1. Inherited cardiomyopathies and sports participation.

    Science.gov (United States)

    Zorzi, A; Pelliccia, A; Corrado, D

    2018-03-01

    Competitive sports activity is associated with an increased risk of sudden cardiovascular death in adolescents and young adults with inherited cardiomyopathies. Many young subjects aspire to continue competitive sport after a diagnosis of cardiomyopathy and the clinician is frequently confronted with the problem of eligibility and the request of designing specific exercise programs. Since inherited cardiomyopathies are the leading cause of sudden cardiovascular death during sports performance, a conservative approach implying disqualification of affected athletes from most competitive athletic disciplines is recommended by all the available international guidelines. On the other hand, we know that the health benefits of practicing recreational sports activity can overcome the potential arrhythmic risk in these patients, provided that the type and level of exercise are tailored on the basis of the specific risk profile of the underlying cardiomyopathy. This article will review the available evidence on the sports-related risk of sudden cardiac death and the recommendations regarding eligibility of individuals affected by inherited cardiomyopathies for sports activities.

  2. Multimodality Imaging in Restrictive Cardiomyopathies : An EACVI expert consensus document In collaboration with the "Working Group on myocardial and pericardial diseases" of the European Society of Cardiology Endorsed by The Indian Academy of Echocardiography

    NARCIS (Netherlands)

    Habib, Gilbert; Bucciarelli-Ducci, Chiara; Caforio, Alida L. P.; Cardim, Nuno; Charron, Philippe; Cosyns, Bernard; Dehaene, Aure ' Lie; Derumeaux, Genevieve; Donal, Erwan; Dweck, Marc R.; Edvardsen, Thor; Erba, Paola Anna; Ernande, Laura; Gaemperli, Oliver; Galderisi, Maurizio; Grapsa, Julia; Jacquier, Alexis; Klingel, Karin; Lancellotti, Patrizio; Neglia, Danilo; Pepe, Alessia; Perrone-Filardi, Pasquale; Petersen, Steffen E.; Plein, Sven; Popescu, Bogdan A.; Reant, Patricia; Sade, L. Elif; Salaun, Erwan; Slart, Riemer H. J. A.; Tribouilloy, Christophe; Zamorano, Jose

    2017-01-01

    Restrictive cardiomyopathies (RCMs) are a diverse group of myocardial diseases with a wide range of aetiologies, including familial, genetic and acquired diseases and ranging from very rare to relatively frequent cardiac disorders. In all these diseases, imaging techniques play a central role.

  3. with Candida spp. aetiology in women

    Directory of Open Access Journals (Sweden)

    Hanna Tomczak

    2014-08-01

    Full Text Available Urinary tract infections (UTIs in women are a growing clinical concern. The most frequent risk factors of UTIs with fungal aetiology in women are: antibiotic therapy (especially broad-spectrum antibiotics, immunosuppressive therapy, diabetes, malnutrition, pregnancy, and frequent intercourse. The aim of the study was to analyse urinary tract infections with Candida spp. aetiology in women hospitalised at the Clinical Hospital in Poznań, Poland, between 2009 and 2011. The investigations revealed that as many as 71% of positive urine cultures with Candida fungi came from women. The following fungi were most frequently isolated from the patients under analysis: C. albicans (47%, C. glabrata (31%, C. tropicalis (6%, C. krusei (3%. In order to diagnose a UTI the diagnosis cannot be based on a single result of a urine culture. Due to the small number of antifungal drugs and high costs of treatment, antifungal drugs should be applied with due consideration and care.

  4. Aetiology of Oral Cancer in the Sudan

    OpenAIRE

    Ahmed, Hussain Gadelkarim

    2013-01-01

    ABSTRACT Objectives To review the studied risk factors that linked to aetiology of oral cancer in the Sudan. There have been numerous reports in the increase in the incidence of oral cancer from various parts of the world. A recent trend for a rising incidence of oral cancer, with the absence of the well established risk factors, has raised concern. Although, there are inconsistent data on incidence and demographical factors, studies suggest that the physiologic response to risk factors by me...

  5. TREATMENT OF PERIPARTUM CARDIOMYOPATHY (REVIEW

    Directory of Open Access Journals (Sweden)

    N. T. Vatutin

    2017-01-01

    Full Text Available The presented review concerns discussion about current insights into treatment of peripartum cardiomyopathy. The definition of peripartum cardiomyopathy and general issues about diagnosis and pathogenesis of the disorder are provided at the head of the review. Particularly, the role of the system «prolactin — cathepsin D — prolactin 16 kDa» in cardiomyopathy development is disclosed. The general approaches to management of the patients are highlighted. The review provides detailed data about indications, adverse effects and derived clinical experience concerning the main pharmacological drugs which had been used in peripartum cardiomyopathy treatment given their possible unfavorable influence on fetus maturation and maternal lactation. The detailed description is provided on diuretics including loop, thiazide and potassium-sparing drugs. It was noted relative safety and efficiency of nitrates and hydralazine in conditions of limited choice from vasodilator group and, particularly, angiotensinconverting-enzyme inhibitors and angiotensin-II receptor blockers which are contraindicated in pregnancy. A special attention is paid to the group of inotropic drugs: levosimendan, milrinone, and cardiac glycosides. The role of β-blockers and ivabradine is disclosed in heart failure treatment of peripartum cardiomyopathy. Anticoagulants were presented in details given that these drugs are justified in severe cardiac chambers dilation, decrease in ejection fraction, and in presence of intracardiac thrombosis. The place of antiarrhythmic drugs administrating in various cardiac rhythm disorders is discussed in the review. The data is given with account of potential influence on fetus in antenatal peripartum cardiomyopathy in which lidocaine and sotalol are the most preferable drugs; adenosine, quinidine, and flecainide are useful with caution, but amiodarone and dronedarone are absolutely contraindicated. Taking into account proposed pathogenic

  6. Aetiology of oral cancer in the Sudan.

    Science.gov (United States)

    Ahmed, Hussain Gadelkarim

    2013-07-01

    To review the studied risk factors that linked to aetiology of oral cancer in the Sudan. There have been numerous reports in the increase in the incidence of oral cancer from various parts of the world. A recent trend for a rising incidence of oral cancer, with the absence of the well established risk factors, has raised concern. Although, there are inconsistent data on incidence and demographical factors, studies suggest that the physiologic response to risk factors by men and women vary in different populations. This review principally examines 33 publications devoted to aetiology of oral cancer in the Sudan, in addition to some risk factors that are commonly practiced in the Sudan. Several studies examining risk factors for oral cancer include tobacco use (Smoked and Smokeless), alcohol consumption, occupational risk, familial risk, immune deficits, virus infection and genetic factors. Toombak use and infection with high risk Human Papilloma Virus (HPV) were extensively investigated and linked to the aetiology of oral cancer in Sudan.

  7. Aetiology of Oral Cancer in the Sudan

    Directory of Open Access Journals (Sweden)

    Hussain Gadelkarim Ahmed

    2013-04-01

    Full Text Available Objectives: To review the studied risk factors that linked to aetiology of oral cancer in the Sudan. There have been numerous reports in the increase in the incidence of oral cancer from various parts of the world. A recent trend for a rising incidence of oral cancer, with the absence of the well established risk factors, has raised concern. Although, there are inconsistent data on incidence and demographical factors, studies suggest that the physiologic response to risk factors by men and women vary in different populations.Material and Methods: This review principally examines 33 publications devoted to aetiology of oral cancer in the Sudan, in addition to some risk factors that are commonly practiced in the Sudan.Results: Several studies examining risk factors for oral cancer include tobacco use (Smoked and Smokeless, alcohol consumption, occupational risk, familial risk, immune deficits, virus infection and genetic factors.Conclusions: Toombak use and infection with high risk Human Papilloma Virus (HPV were extensively investigated and linked to the aetiology of oral cancer in Sudan.

  8. Clinical features of Noncompaction Cardiomyopathy

    NARCIS (Netherlands)

    K. Caliskan (Kadir)

    2012-01-01

    textabstractNoncompaction cardiomyopathy (NCCM) is recognized as a separate disease entity since the first report in 1984 of a rare case with persistent myocardial sinusoids and a series of 8 pediatric and adolescent patients in 1990 with increased trabeculation of the left ventricular endocardium.

  9. New insights into cirrhotic cardiomyopathy

    DEFF Research Database (Denmark)

    Møller, Søren; Hove, Jens D; Dixen, Ulrik

    2013-01-01

    beta-receptor function seem involved in the autonomic and cardiac dysfunction. Cirrhotic cardiomyopathy can be revealed by tissue Doppler imaging but is best demasked by physical or pharmacological stress. Liver transplantation may revert cardiac dysfunction but surgery and shunt insertion may also...

  10. Living with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Subasic, Kim

    2013-12-01

    The purpose of this study is to provide an insider's account of what it is like to live with hypertrophic cardiomyopathy (HCM), a genetic cardiovascular illness that carries the risk for sudden cardiac death. This study aims to reveal how HCM impacts the family and guides the decision whether or not to pursue genetic testing, how the physical limitations associated with HCM alter being-in-the-world, and how HCM alters social relationships. Fifteen adults with HCM were recruited for a longitudinal, phenomenological, qualitative study through purposive sampling and word of mouth. A total of 45 interviews were conducted by the researcher at a time and place designated by the participant between August 2011 and January 2012. The first interview with each participant was conducted in person. While efforts were made to conduct all interviews in person, a total of three interviews were conducted by telephone as requested by three participants due to scheduling conflicts. Through methods of interpretive phenomenology, three audio-recorded, semistructured interviews occurred over the course of 3 months. Detailed narratives were solicited and transcribed verbatim. Methodological and analytical documentation was supported with the identification of key phrases, similar experiences, themes, and documentation of the rationale for decisions throughout the research process. Participation in genetic testing carries a multitude of personal, familial, financial, and emotional implications. The results of a genetic test elicited an emotional response regardless of whether the results were negative, positive, or inconclusive. Living with a potentially life-threatening illness altered identity, disrupted social relationships, and generated chronic fear and uncertainty. A new normal was re-ordered or transformed by the demands and limitations posed by HCM, and by the person's concerns, priorities, and the meaning of the illness. Results from this study underscore the need for healthcare

  11. Wakeless triple soliton accelerator

    International Nuclear Information System (INIS)

    Mima, K.; Ohsuga, T.; Takabe, H.; Nishihara, K.; Tajima, T.; Zaidman, E.; Horton, W.

    1986-09-01

    We introduce and analyze the concept of a wakeless triple soliton accelerator in a plasma fiber. Under appropriate conditions the triple soliton with two electromagnetic and one electrostatic waves in the beat-wave resonance propagates with velocity c leaving no plasma wake behind, while the phase velocity of the electrostatic wave is made also c in the fiber

  12. Risk of Cardiomyopathy in Younger Persons With a Family History of Death from Cardiomyopathy

    DEFF Research Database (Denmark)

    Ranthe, Mattis F; Carstensen, Lisbeth; Øyen, Nina

    2015-01-01

    at the population level is unclear. In a nationwide cohort, we examined the risk of cardiomyopathy by family history of premature death (... ascertained family history of premature (... incidence rate ratios for cardiomyopathy by family history of premature death. Premature cardiomyopathy deaths in first- and second-degree relatives were associated with 29- and 6-fold increases in the rate of cardiomyopathy, respectively. If the first-degree relative died aged

  13. Role of cardiac MRI in nonischemic cardiomyopathies.

    Science.gov (United States)

    Anand, Senthil; Janardhanan, Rajesh

    2016-01-01

    Cardiac magnetic resonance (CMR) with its higher spatial resolution is considered the gold standard for evaluating ventricular mass, volumes, and ejection fraction. CMR can be used for accurate diagnosis of several conditions, especially cardiomyopathies. The purpose of this article is to review the utility of CMR in the diagnosis and management of nonischemic cardiomyopathies. We have reviewed both common and rare types of nonischemic cardiomyopathies in detail and elaborated on the specific CMR findings in each. We believe that CMR is an invaluable tool, not only in differentiating nonischemic from ischemic cardiomyopathy, but also in aiding the accurate diagnosis and management of the subtype of nonischemic cardiomyopathy. CMR should routinely be integrated in the diagnostic workup of various cardiomyopathies. Published by Elsevier B.V.

  14. Role of cardiac MRI in nonischemic cardiomyopathies

    Directory of Open Access Journals (Sweden)

    Senthil Anand

    2016-05-01

    Full Text Available Cardiac magnetic resonance (CMR with its higher spatial resolution is considered the gold standard for evaluating ventricular mass, volumes, and ejection fraction. CMR can be used for accurate diagnosis of several conditions, especially cardiomyopathies. The purpose of this article is to review the utility of CMR in the diagnosis and management of nonischemic cardiomyopathies. We have reviewed both common and rare types of nonischemic cardiomyopathies in detail and elaborated on the specific CMR findings in each. We believe that CMR is an invaluable tool, not only in differentiating nonischemic from ischemic cardiomyopathy, but also in aiding the accurate diagnosis and management of the subtype of nonischemic cardiomyopathy. CMR should routinely be integrated in the diagnostic workup of various cardiomyopathies.

  15. Cardiovascular magnetic resonance in hypertrophic cardiomyopathy and infiltrative cardiomyopathy

    OpenAIRE

    Schofield, Rebecca; Manacho, Katia; Castelletti, Silvia; Moon, James C.

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Cardiac imaging plays a key role in the diagnosis and management, with cardiovascular magnetic resonance (CMR) an important modality. CMR provides a number of different techniques in one examination: structure and function, flow imaging and tissue characterisation particularly with the late gadolinium enhancement (LGE) technique. Other techniques include vasodilator perfusion, mapping (especially T1 mapping and ex...

  16. Aetiology of thrombosed external haemorrhoids: a questionnaire study

    OpenAIRE

    Gebbensleben, Ole; Hilger, York; Rohde, Henning

    2009-01-01

    Abstract Background It is important to better understand the aetiology of thrombosed external haemorrhoids (TEH) because recurrence rates are high, prophylaxis is unknown, and optimal therapy is highly debated. Findings We conducted a questionnaire study of individuals with and without TEH. Aetiology was studied by comparison of answers to a questionnaire given to individuals with and without TEH concerning demography, history, and published aetiologic hypotheses. Participants were evaluated ...

  17. Myocardial ischemia in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Lima Filho, Moyses de Oliveira; Figueiredo, Geraldo L.; Simoes, Marcus V.; Pyntia, Antonio O.; Marin Neto, Jose Antonio

    2000-01-01

    Myocardial ischemia in hypertrophic cardiomyopathy is multifactorial and explains the occurrence of angina, in about 50% of patients. The pathophysiology of myocardial ischemia may be explained by the increase of the ventricular mass and relative paucity of the coronary microcirculation; the elevated ventricular filling pressures and myocardial stiffness causing a compression of the coronary microvessels; the impaired coronary vasodilator flow reserve caused by anatomic and functional abnormalities; and the systolic compression of epicardial vessel (myocardial bridges). Myocardial ischemia must be investigated by perfusion scintigraphic methods since its presence influences the prognosis and has relevant clinical implications for management of patients. Patients with hypertrophic cardiomyopathy and documented myocardial ischemia usually need to undergo invasive coronary angiography to exclude the presence of concomitant atherosclerotic coronary disease. (author)

  18. Peripartum Cardiomyopathy Presenting as Bradycardia

    OpenAIRE

    Codsi, Elisabeth; Rose, Carl H.; Tweet, Marysia S.; Hayes, Sharonne N.; Best, Patricia J. M.; Blauwet, Lori A.

    2017-01-01

    Peripartum cardiomyopathy (PPCM) is a disease that typically affects young otherwise healthy women. As PPCM is associated with significant mortality, timely diagnosis is necessary to ensure appropriate care. To our knowledge, this represents the first reported case of PPCM presenting as symptomatic bradycardia. We describe the patient’s clinical presentation and relevant findings and review the potential etiology and ramifications of bradycardia in patients with PPCM.

  19. Determinants of Thyrotoxic Cardiomyopathy Recovery

    Directory of Open Access Journals (Sweden)

    Lucia Oliveros-Ruiz

    2013-01-01

    Full Text Available The purpose was to evaluate the effect of the disease duration prior to treatment, thyroid hormones level, or both on the reversibility of dilated cardiomyopathy. Between January 2006 and December 2010, a longitudinal study with a 6 months follow-up was carried on. One hundred and seventy patients with hyperthyroidism were referred to the cardiologist, and 127 had a 6 months followup after antithyroid treatment and were evaluated by echocardiography. Dilated cardiomyopathy reversibility criteria were established according to echocardiographic parameters. Complete reversibility existed when all parameters were met, partial reversibility when LVEF was ≥55% plus two or three other parameters, and no reversibility when LVEF was ≤55% regardless of other parameters. The results showed that echocardiography parameters related to the regression of myocardial mass were associated with a disease duration shorter than 10.38 months. This was the main predictive variable for reversal of dilated cardiomyopathy, followed by β-blocker treatment, and the last predictive variable was the serum level of free triiodothyronine. This study showed that the effect on the myocardium related to thyrotoxicosis was associated with the disease duration before treatment.

  20. Genetic basis of arrhythmogenic cardiomyopathy.

    Science.gov (United States)

    Karmouch, Jennifer; Protonotarios, Alexandros; Syrris, Petros

    2018-05-01

    To date 16 genes have been associated with arrhythmogenic cardiomyopathy (ACM). Mutations in these genes can lead to a broad spectrum of phenotypic expression ranging from disease affecting predominantly the right or left ventricle, to biventricular subtypes. Understanding the genetic causes of ACM is important in diagnosis and management of the disorder. This review summarizes recent advances in molecular genetics and discusses the application of next-generation sequencing technology in genetic testing in ACM. Use of next-generation sequencing methods has resulted in the identification of novel causative variants and genes for ACM. The involvement of filamin C in ACM demonstrates the genetic overlap between ACM and other types of cardiomyopathy. Putative pathogenic variants have been detected in cadherin 2 gene, a protein involved in cell adhesion. Large genomic rearrangements in desmosome genes have been systematically investigated in a cohort of ACM patients. Recent studies have identified novel causes of ACM providing new insights into the genetic spectrum of the disease and highlighting an overlapping phenotype between ACM and dilated cardiomyopathy. Next-generation sequencing is a useful tool for research and genetic diagnostic screening but interpretation of identified sequence variants requires caution and should be performed in specialized centres.

  1. Aetiological diagnosis of child deafness: CODEPEH recommendations.

    Science.gov (United States)

    Núñez-Batalla, Faustino; Jáudenes-Casaubón, Carmen; Sequí-Canet, Jose Miguel; Vivanco-Allende, Ana; Zubicaray-Ugarteche, Jose; Cabanillas-Farpón, Rubén

    Important progress in the fields of molecular genetics (principally) and diagnostic imaging, together with the lack of a consensus protocol for guiding the diagnostic process after confirming deafness by neonatal screening, have led to this new work document drafted by the Spanish Commission for the Early Detection of Child Deafness (Spanish acronym: CODEPEH). This 2015 Recommendations Document, which is based on the most recent scientific evidence, provides guidance to professionals to support them in making decisions regarding aetiological diagnosis. Such diagnosis should be performed without delay and without impeding early intervention. Early identification of the causes of deafness offers many advantages: it prevents unnecessary trouble for the families, reduces health system expenses caused by performing different tests, and provides prognostic information that may guide therapeutic actions. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

  2. Aetiology of allergic rhinitis in Hong Kong

    Directory of Open Access Journals (Sweden)

    Christopher W.K. Lam

    1998-01-01

    Full Text Available In a 1993 survey, allergic rhinitis was identified as the most common allergic disease in Hong Kong, affecting 29.1% of schoolchildren. Recently (1995, the International Study of Asthma and Allergies in Childhood (ISAAC also reported 44.5% current rhinitis among Hong Kong teenagers. Our objective was to study the aetiology of allergic rhinitis in Hong Kong using serological tests of allergen sensitization. In 57 allergic rhinitis patients and in the same number of age- and sex-matched controls the following were measured: serum total IgE, mixed aeroallergen IgE (Phadiatop™ and specific IgE versus house dust mite (HDM, cockroach, cat and dog dander, mould mixture (Penicillium, Cladosporium, Aspergillus and Alternaria species and four local pollens (Bermuda grass, Timothy, ragweed and mugwort. Compared with controls, allergic rhinitis patients (26 males, 31 females; mean (± SD age 25 ±11 years had a significantly elevated serum total IgE concentration (mean ± SEM: 496 ± 88 vs 179 ± 38 kU/L and an increased proportion of positive Phadiatop (95 vs 33% and specific IgE tests versus HDM (90 vs 44% and cockroach (42 vs 9%; Mann-Whitney U-test and χ2 tests all P < 0.005. There was no significant difference in sensitization to other allergens tested. House dust mite and cockroach are ubiquitous in Hong Kong with a warm, humid climate and crowded living conditions. Their identification as aetiological agents of allergic rhinitis should help in the development of environmental strategies for reducing the inhalant allergen load to prevent and control this prevalent and costly health problem in our community.

  3. Diagnosis and assessment of dilated cardiomyopathy: a guideline protocol from the British Society of Echocardiography

    Directory of Open Access Journals (Sweden)

    Thomas Mathew

    2017-06-01

    Full Text Available Heart failure (HF is a debilitating and life-threatening condition, with 5-year survival rate lower than breast or prostate cancer. It is the leading cause of hospital admission in over 65s, and these admissions are projected to rise by more than 50% over the next 25 years. Transthoracic echocardiography (TTE is the first-line step in diagnosis in acute and chronic HF and provides immediate information on chamber volumes, ventricular systolic and diastolic function, wall thickness, valve function and the presence of pericardial effusion, while contributing to information on aetiology. Dilated cardiomyopathy (DCM is the third most common cause of HF and is the most common cardiomyopathy. It is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension and valve disease or coronary artery disease sufficient to cause global systolic impairment. This document provides a practical approach to diagnosis and assessment of dilated cardiomyopathy that is aimed at the practising sonographer.

  4. Cardiomyopathy in becker muscular dystrophy: Overview.

    Science.gov (United States)

    Ho, Rady; Nguyen, My-Le; Mather, Paul

    2016-06-26

    Becker muscular dystrophy (BMD) is an X-linked recessive disorder involving mutations of the dystrophin gene. Cardiac involvement in BMD has been described and cardiomyopathy represents the number one cause of death in these patients. In this paper, the pathophysiology, clinical evaluations and management of cardiomyopathy in patients with BMD will be discussed.

  5. Diagnostic work-up in cardiomyopathies

    DEFF Research Database (Denmark)

    Rapezzi, Claudio; Arbustini, Eloisa; Caforio, Alida L P

    2013-01-01

    a framework for the clinical approach to diagnosis in cardiomyopathies based on the recognition of diagnostic 'red flags' that can be used to guide rational selection of specialized tests including genetic analysis. The basic premise is that the adoption of a cardiomyopathy-specific mindset which combines...

  6. Peripartum cardiomyopathy: Euro Observational Research Program

    NARCIS (Netherlands)

    Hoes, M. F.; van Hagen, I.; Russo, F.; van Veldhuisen, D. J.; van den Berg, M. P.; Roos-Hesselink, J.; van Spaendonck-Zwarts, K. Y.; van der Meer, P.

    2014-01-01

    Peripartum cardiomyopathy is a rare but potentially life-threatening form of heart failure affecting women late in pregnancy or in the first months after delivery. Peripartum cardiomyopathy is difficult to diagnose and its onset and progression are variable between individuals. The pathophysiology

  7. Peripartum cardiomyopathy : Euro Observational Research Program

    NARCIS (Netherlands)

    Hoes, M. F.; van Hagen, I.; Russo, F.; Van Veldhuisen, D. J.; Van den Berg, M. P.; Roos-Hesselink, J.; van Spaendonck-Zwarts, K. Y.; van der Meer, P.

    Peripartum cardiomyopathy is a rare but potentially life-threatening form of heart failure affecting women late in pregnancy or in the first months after delivery. Peripartum cardiomyopathy is difficult to diagnose and its onset and progression are variable between individuals. The pathophysiology

  8. Peripartum Cardiomyopathy: Euro Observational Research Program

    NARCIS (Netherlands)

    M.F. Hoes; I.M. van Hagen (Iris); F. Russo; D.J. van Veldhuisen (Dirk); M.P. van den Berg (Maarten); J.W. Roos-Hesselink (Jolien); K.Y. van Spaendonck-Zwarts (Karin); P. van der Meer (Peter)

    2014-01-01

    textabstractPeripartum cardiomyopathy is a rare but potentially life-threatening form of heart failure affecting women late in pregnancy or in the first months after delivery. Peripartum cardiomyopathy is difficult to diagnose and its onset and progression are variable between individuals. The

  9. Aetiology of Depression: Insights from epidemiological and genetic research

    NARCIS (Netherlands)

    O. Story-Jovanova (Olivera)

    2018-01-01

    markdownabstractThis thesis includes several population-based studies that explore the aetiology of depression, with a specific interest on biological factors, genetics and epigenetics, and physical health factors for depression. Unravelling the aetiology of depression could potentially answer some

  10. Gender Variation in the Aetiology and Pattern of Traumatized ...

    African Journals Online (AJOL)

    Gender Variation in the Aetiology and Pattern of Traumatized Anterior Teeth, in an Adult Population in Benin City, Nigeria. ... Motor bike accidents were the commonest aetiology reported by both gender; this was followed by falls in males and cracking of animal bones in females. More females had mandibular teeth injured ...

  11. [Ventricular tachyarrhythmias in patients with cardiomyopathy

    DEFF Research Database (Denmark)

    Henningsen, K.; Christensen, A.H.; Svendsen, Jesper Hastrup

    2008-01-01

    by disease, gender, age, previous cardiac arrest and treatment with implantable cardioverter-defibrillator (ICD). RESULTS: 993 patients were screened and 128 patients with cardiomyopathy were identified, corresponding to 13% of the screened patients. 58 (45%) of the patients had dilated cardiomyopathy (DCM......), 57 (45%) patients had arrhythmogenic right ventricular cardiomyopathy (ARVC) and 13 (10%) had hypertrophic cardiomyopathy (HCM). The average age was 44 years for HCM, 41 years for ARVC and 58 years for DCM. The majority of the patients were male. ICD treatment was used in 95% of the patients...... with ARVC, 70% of the patients with HCM and 59% of the patients with DCM. Only 5 patients had previous cardiac arrest without reversible cause. CONCLUSION: The study shows that cardiomyopathies are relatively frequent causes of ventricular tachyarrhythmias in patients discharged from a specialised...

  12. Peripartum cardiomyopathy: A contemporary review

    Directory of Open Access Journals (Sweden)

    Akshai Bhandary

    2018-01-01

    Full Text Available Peripartum cardiomyopathy (PPCM is a rare, potentially life-threatening disorder affecting women in late pregnancy and the postpartum period. Historically, PPCM was not recognized as a separate disease entity until the 1930s. Further research has since led to the identification of at-risk demographics, theories on etiology, and new targets of therapy. Management to date has largely been focused on guideline-based treatment for heart failure with reduced ejection fraction. However, newer studies have shown the efficacy of novel therapies. In this article, we will review the pathogenesis and diagnosis of PPCM and conclude with some of the newest therapies being offered.

  13. Ergotamine-Induced Takotsubo Cardiomyopathy.

    Science.gov (United States)

    Ozpelit, Ebru; Ozpelit, Mehmet E; Akdeniz, Bahri; Göldeli, Özhan

    2016-01-01

    Takotsubo cardiomyopathy (TC) is a recently increasing diagnosed disease showed by transient apical or mid-apical left ventricular dysfunction. It is known as a disease of postmenopausal women, which is usually triggered by emotional or physical stress. Although the trigger is mostly endogenous, some drugs have also been reported as the cause. Published case reports of TC associated with drug usage consist of sympathomimetic drugs, inotropic agents, thyroid hormone, cocaine, and 5-fluorouracil. We present an unusual case of TC in which the possible trigger is ergotamine toxicity.

  14. Takotsubo cardiomyopathy: a case report.

    Science.gov (United States)

    Johar, Sandeep; Prasad, Heramba; Kozman, Hani

    2007-01-01

    A 57-year-old Caucasian woman presented to the emergency department with chest discomfort after testifying in a child custody battle in court. Electrocardiography (ECG) revealed ST-segment elevation in the lateral leads, and T-wave inversions in the inferior and lateral leads. The creatine kinase, creatine kinase-MB, and troponin I concentrations were elevated on presentation. Despite the ECG changes and elevated cardiac markers, coronary angiography demonstrated normal arteries. Left ventricular angiogram revealed an aneurysm at the apex. Takotsubo cardiomyopathy was diagnosed on the basis of these characteristic findings. The patient was discharged on her third hospital day without any complications from the coronary angiography.

  15. Peripartum Cardiomyopathy: A Current Review

    Directory of Open Access Journals (Sweden)

    Katie M. Twomley

    2010-01-01

    Full Text Available Peripartum cardiomyopathy (PPCM is a rare but potentially lethal complication of pregnancy occurring in approximately 1 : 3,000 live births in the United States although some series report a much higher incidence. African-American women are particularly at risk. Diagnosis requires symptoms of heart failure in the last month of pregnancy or within five months of delivery in the absence of recognized cardiac disease prior to pregnancy as well as objective evidence of left ventricular systolic dysfunction. This paper provides an updated, comprehensive review of PPCM, including emerging insights into the etiology of this disorder as well as current treatment options.

  16. Enterovesical Fistulae: Aetiology, Imaging, and Management

    Directory of Open Access Journals (Sweden)

    Tomasz Golabek

    2013-01-01

    Full Text Available Background and Study Objectives. Enterovesical fistula (EVF is a devastating complication of a variety of inflammatory and neoplastic diseases. Radiological imaging plays a vital role in the diagnosis of EVF and is indispensable to gastroenterologists and surgeons for choosing the correct therapeutic option. This paper provides an overview of the diagnosis of enterovesical fistulae. The treatment of fistulae is also briefly discussed. Material and Methods. We performed a literature review by searching the Medline database for articles published from its inception until September 2013 based on clinical relevance. Electronic searches were limited to the keywords: “enterovesical fistula,” “colovesical fistula” (CVF, “pelvic fistula”, and “urinary fistula”. Results. EVF is a rare pathology. Diverticulitis is the commonest aetiology. Over two-thirds of affected patients describe pathognomonic features of pneumaturia, fecaluria, and recurrent urinary tract infections. Computed tomography is the modality of choice for the diagnosis of enterovesical fistulae as not only does it detect a fistula, but it also provides information about the surrounding anatomical structures. Conclusions. In the vast majority of cases, this condition is diagnosed because of unremitting urinary symptoms after gastroenterologist follow-up procedures for a diverticulitis or bowel inflammatory disease. Computed tomography is the most sensitive test for enterovesical fistula.

  17. The aetiology of paediatric inflammatory vulvovaginitis.

    Science.gov (United States)

    Cuadros, Juan; Mazón, Ana; Martinez, Rocío; González, Pilar; Gil-Setas, Alberto; Flores, Uxua; Orden, Beatriz; Gómez-Herruz, Peña; Millan, Rosario

    2004-02-01

    Vulvovaginitis is the most common gynaecological problem in prepubertal girls and clear-cut data on the microbial aetiology of moderate to severe infections are lacking. Many microorganisms have been reported in several studies, but frequently the paediatrician does not know the pathogenic significance of an isolate reported in vaginal specimens of girls with vulvovaginitis. A multicentre study was performed, selecting 74 girls aged 2 to 12 years old with a clinical picture of vulvovaginitis and inflammatory cells on Gram stain. All the specimens were cultured following standard microbiological techniques and the paediatricians completed a questionnaire to highlight risk factors after interviewing the parents or tutors. The data were compared with those obtained in a control group of 11 girls without vulvovaginitis attending a clinic. Streptococcus pyogenesand Haemophilus spp.were isolated in 47 and 12 cases, respectively. Upper respiratory infection in the previous month ( Pvulvovaginitis in the previous year ( Pvulvovaginitis is mainly caused by pathogens of the upper respiratory tract and the most common risk factor for this infection is to have suffered an upper respiratory tract infection in the previous month.

  18. Cardiac magnetic resonance assessment of takotsubo cardiomyopathy

    International Nuclear Information System (INIS)

    Abbas, A.; Sonnex, E.; Pereira, R.S.; Coulden, R.A.

    2016-01-01

    Takotsubo cardiomyopathy is an important condition that can be difficult to differentiate from acute coronary syndrome on the basis of clinical, electrocardiogram, and cardiac enzyme assessment alone. Although coronary angiography remains important in the acute assessment of patients with suspected takotsubo cardiomyopathy, cardiac magnetic resonance (CMR) has emerged over the last decade as an important non-invasive imaging tool in the diagnosis and follow-up of this condition. We present a review highlighting the CMR features of takotsubo cardiomyopathy and its complications with particular focus on differentiating this condition from acute myocardial infarction and myocarditis.

  19. Occurrence, aetiology and challenges in the management of congestive heart failure in sub-saharan Africa: experience of the Cardiac Centre in Shisong, Cameroon

    Directory of Open Access Journals (Sweden)

    Tantchou Tchoumi Jacques Cabral

    2011-02-01

    Full Text Available INTRODUCTION: The aim of the study was to investigate the occurrence, the aetiology and the management of congestive heart failure in the cardiac centre of the St. Elizabeth catholic general hospital Shisong in Cameroon. METHODS: Between November 2002 and November 2008, a population of 8121 patients was consulted in the referral cardiac centre of St. Elizabeth Catholic General Hospital. Of these patients, 462 were diagnosed with congestive heart failure according to the modified Framingham criteria for the diagnosis of heart failure. Complementary investigations used to confirm and establish the aetiology of the disease were the chest X-ray, electrocardiography, bi-dimensional Doppler echocardiography. RESULTS: The results showed that the occurrence of congestive heart failure in our centre was 5,7%. Congestive heart failure was diagnosed in 198 females and 264 males, aged between 8 and 86 years old (42.5, plus or minus 18 years old. Post rheumatic valvulopathies (14.6% and congenital heart diseases (1.9% were the first aetiologic factor of congestive heart failure in the young, meanwhile cardiomyopathies (8,3% in elderly followed by hypertensive cardiomyopathy (4.4%. Congestive heart failure was also seen in adults with congenital heart diseases in 0.01%. In this zone of Cameroon, we discovered that HIV cardiomyopathy (1.6% and Cor pulmonale (8% were represented, aetiological factors not mentioned in previous studies conducted in urban areas of Cameroon. The mean duration of hospital stay for the compensation treatment was thirteen days, ranging between 7 and 21 days, the mortality being 9.2%. All the medications recommended for the treatment of congestive heart failure are available in our centre but many patients are not compliant to the therapy or cannot afford them. Financial limitation is causing the exacerbation of the disease and premature death. CONCLUSION: Our data show a high incidence of congestive heart failure mainly due to post

  20. Chronic fatigue syndrome: aetiology, diagnosis and treatment

    Science.gov (United States)

    Avellaneda Fernández, Alfredo; Pérez Martín, Álvaro; Izquierdo Martínez, Maravillas; Arruti Bustillo, Mar; Barbado Hernández, Francisco Javier; de la Cruz Labrado, Javier; Díaz-Delgado Peñas, Rafael; Gutiérrez Rivas, Eduardo; Palacín Delgado, Cecilia; Rivera Redondo, Javier; Ramón Giménez, José Ramón

    2009-01-01

    Chronic fatigue syndrome is characterised by intense fatigue, with duration of over six months and associated to other related symptoms. The latter include asthenia and easily induced tiredness that is not recovered after a night's sleep. The fatigue becomes so severe that it forces a 50% reduction in daily activities. Given its unknown aetiology, different hypotheses have been considered to explain the origin of the condition (from immunological disorders to the presence of post-traumatic oxidative stress), although there are no conclusive diagnostic tests. Diagnosis is established through the exclusion of other diseases causing fatigue. This syndrome is rare in childhood and adolescence, although the fatigue symptom per se is quite common in paediatric patients. Currently, no curative treatment exists for patients with chronic fatigue syndrome. The therapeutic approach to this syndrome requires a combination of different therapeutic modalities. The specific characteristics of the symptomatology of patients with chronic fatigue require a rapid adaptation of the educational, healthcare and social systems to prevent the problems derived from current systems. Such patients require multidisciplinary management due to the multiple and different issues affecting them. This document was realized by one of the Interdisciplinary Work Groups from the Institute for Rare Diseases, and its aim is to point out the main social and care needs for people affected with Chronic Fatigue Syndrome. For this, it includes not only the view of representatives for different scientific societies, but also the patient associations view, because they know the true history of their social and sanitary needs. In an interdisciplinary approach, this work also reviews the principal scientific, medical, socio-sanitary and psychological aspects of Chronic Fatigue Syndrome. PMID:19857242

  1. Paediatric retinal detachment: aetiology, characteristics and outcomes

    Directory of Open Access Journals (Sweden)

    Elizabeth McElnea

    2018-02-01

    Full Text Available AIM: To provide contemporary data on the aetiology, clinical features and outcomes of paediatric retinal detachment. METHODS: A retrospective review of all those under 16y who underwent surgical repair for retinal detachment at a single centre between the years 2008 and 2015 inclusive was performed. In each case the cause of retinal detachment, the type of detachment, the presence or absence of macular involvement, the number and form of reparative surgeries undertaken, and the surgical outcome achieved was recorded. RESULTS: Twenty-eight eyes of 24 patients, 15 (62.5% of whom were male and 9 (37.5% of whom were female, their mean age being 11.6y and range 2-16y developed retinal detachment over the eight year period studied. Trauma featured in the development of retinal detachment in 14 (50.0% cases. Retinal detachment was associated with other ocular and/or systemic conditions in 11 (39.3% cases. A mean of 3.0 procedures with a range of 1-9 procedures per patient were undertaken in the management of retinal detachment. Complex vitrectomy combined with scleral buckling or complex vitrectomy alone were those most frequently performed. Mean postoperative visual acuity was 1.2 logMAR with range 0.0-3.0 logMAR. In 22 of 26 (84.6% cases which underwent surgical repair the retina was attached at last follow-up. CONCLUSION: Aggressive management of paediatric retinal detachment including re-operation increases the likelihood of anatomical success. In cases where the retinal detachment can be repaired by an external approach alone there is a more favourable visual outcome.

  2. Paediatric retinal detachment: aetiology, characteristics and outcomes.

    Science.gov (United States)

    McElnea, Elizabeth; Stephenson, Kirk; Gilmore, Sarah; O'Keefe, Michael; Keegan, David

    2018-01-01

    To provide contemporary data on the aetiology, clinical features and outcomes of paediatric retinal detachment. A retrospective review of all those under 16y who underwent surgical repair for retinal detachment at a single centre between the years 2008 and 2015 inclusive was performed. In each case the cause of retinal detachment, the type of detachment, the presence or absence of macular involvement, the number and form of reparative surgeries undertaken, and the surgical outcome achieved was recorded. Twenty-eight eyes of 24 patients, 15 (62.5%) of whom were male and 9 (37.5%) of whom were female, their mean age being 11.6y and range 2-16y developed retinal detachment over the eight year period studied. Trauma featured in the development of retinal detachment in 14 (50.0%) cases. Retinal detachment was associated with other ocular and/or systemic conditions in 11 (39.3%) cases. A mean of 3.0 procedures with a range of 1-9 procedures per patient were undertaken in the management of retinal detachment. Complex vitrectomy combined with scleral buckling or complex vitrectomy alone were those most frequently performed. Mean postoperative visual acuity was 1.2 logMAR with range 0.0-3.0 logMAR. In 22 of 26 (84.6%) cases which underwent surgical repair the retina was attached at last follow-up. Aggressive management of paediatric retinal detachment including re-operation increases the likelihood of anatomical success. In cases where the retinal detachment can be repaired by an external approach alone there is a more favourable visual outcome.

  3. SHORT RESEARCH REPORTS The Aetiology and Agents of Pre ...

    African Journals Online (AJOL)

    Aetiology, agents, pre-hospital, transportation, femoral shafts, fractures. Introduction ... Disability often results from limb shortening, malalignment, and prolonged .... youngest patient was a day-old baby with a fracture resulting from birth trauma ...

  4. Review of the Aetiology and Complications of Primary Postpartum ...

    African Journals Online (AJOL)

    Review of the Aetiology and Complications of Primary Postpartum Haemorrhage following vaginal delivery at University of Calabar Teaching Hospital (UCTH), Calabar, Nigeria: A 5-year Review. CI Emechebe, CO Njoku, AN Njoku, JT Ukaga, EM Eyong ...

  5. Almost convergence of triple sequences

    OpenAIRE

    Ayhan Esi; M.Necdet Catalbas

    2013-01-01

    In this paper we introduce and study the concepts of almost convergence and almost Cauchy for triple sequences. Weshow that the set of almost convergent triple sequences of 0's and 1's is of the first category and also almost everytriple sequence of 0's and 1's is not almost convergent.Keywords: almost convergence, P-convergent, triple sequence.

  6. Medulla Oblongata Hemorrhage and Reverse Takotsubo Cardiomyopathy.

    Science.gov (United States)

    Gobeske, Kevin T; Sarano, Maurice E; Fugate, Jennifer E; Wijdicks, Eelco F

    2017-12-19

    Acute brain injury with strong surges of adrenergic outflow has resulted in takotsubo cardiomyopathy, but there are surprisingly few reports of takotsubo cardiomyopathy after intracranial hemorrhage, and none have been described from hemorrhage within the brainstem. We describe a patient with reverse and reversible cardiomyopathy following a hemorrhage in the lateral medulla oblongata. While it is limited in size, the location of the hemorrhage caused acute systolic failure with left ventricular ejection fraction of 27% and vasopressor requirement for cardiogenic shock and pulmonary edema. There was full recovery after 7 days. Detailed case report. Hemorrhage into medulla oblongata pressor centers may result in acute, reversible, stress-induced cardiomyopathy, affirming the adrenergic origin of this condition.

  7. Genetics Home Reference: familial dilated cardiomyopathy

    Science.gov (United States)

    ... Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol. 2013 Sep;10(9):531- ... Health & Human Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical ...

  8. Recurrent Takotsubo Cardiomyopathy Related to Recurrent Thyrotoxicosis.

    Science.gov (United States)

    Patel, Keval; Griffing, George T; Hauptman, Paul J; Stolker, Joshua M

    2016-04-01

    Takotsubo cardiomyopathy, or transient left ventricular apical ballooning syndrome, is characterized by acute left ventricular dysfunction caused by transient wall-motion abnormalities of the left ventricular apex and mid ventricle in the absence of obstructive coronary artery disease. Recurrent episodes are rare but have been reported, and several cases of takotsubo cardiomyopathy have been described in the presence of hyperthyroidism. We report the case of a 55-year-old woman who had recurrent takotsubo cardiomyopathy, documented by repeat coronary angiography and evaluations of left ventricular function, in the presence of recurrent hyperthyroidism related to Graves disease. After both episodes, the patient's left ventricular function returned to normal when her thyroid function normalized. These findings suggest a possible role of thyroid-hormone excess in the pathophysiology of some patients who have takotsubo cardiomyopathy.

  9. Stress cardiomyopathy syndrome: a contemporary review.

    Science.gov (United States)

    Kapoor, Divya; Bybee, Kevin A

    2009-12-01

    Stress cardiomyopathy (SC) syndrome represents a reversible form of cardiomyopathy that commonly presents proximate to an acute emotional or physiologic stressor. The clinical presentation is similar to an acute coronary syndrome in the absence of obstructive coronary artery disease to explain the unusual distribution of associated transient wall motion abnormalities. Postmenopausal women seem particularly prone to SC for unclear reasons. The pathophysiology of the syndrome is unknown but may involve pathologic sympathetic myocardial stimulation.

  10. RATIONAL PHARMACOTHERAPY IN TAKOTSUBO CARDIOMYOPATHY

    Directory of Open Access Journals (Sweden)

    S. Marchev

    2012-01-01

    Full Text Available Rational pharmacotherapy in Takotsubo cardiomyopathy is based on clinical picture and data of functional and laboratory investigations of concrete patient. In patients with hypotension and moderate-to-severe left ventricle outflow tract obstruction inotropic agents must not to be used because they can worsen the degree of obstruction. In these patients beta blockers can improve hemodynamics by causing resolution of the obstruction. If intraventricular thrombus is detected, anticoagulation for at least 3 months is recommended. The duration of anticoagulant therapy may be modified depending on the extent of cardiac function recovery and thrombus resolution. For patients without thrombus but with severe left ventricular dysfunction, anticoagulation is recommended until the akinesis or dyskinesis has resolved but not more than 3 months.

  11. Cardiomyopathy

    Science.gov (United States)

    ... blood flow to the damaged or weakened heart muscle Heart transplant that may be tried when all other treatments have failed Recently, implantable artificial heart pumps have been developed. These may be ...

  12. Cardiomyopathy

    Science.gov (United States)

    ... Rounds Seminar Series & Daily Conferences Fellowships and Residencies School of Perfusion Technology Education Resources Library & Learning Resource Center CME Resources THI Journal THI Cardiac Society Register for the Cardiac Society ...

  13. Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy

    NARCIS (Netherlands)

    van Spaendonck-Zwarts, Karin Y.; Posafalvi, Anna; van den Berg, Maarten P.; Hilfiker-Kleiner, Denise; Bollen, Ilse A. E.; Sliwa, Karen; Alders, Marielle; AlMomani, Rowida; van Langen, Irene M.; van der Meer, Peter; Sinke, Richard J.; van der Velden, Jolanda; Van Veldhuisen, Dirk J.; van Tintelen, J. Peter; Jongbloed, Jan D. H.

    2014-01-01

    Aim Peripartum cardiomyopathy (PPCM) can be an initial manifestation of familial dilated cardiomyopathy (DCM). We aimed to identify mutations in families that could underlie their PPCM and DCM. Methods and results We collected 18 families with PPCM and DCM cases from various countries. We studied

  14. Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy

    NARCIS (Netherlands)

    van Spaendonck-Zwarts, Karin Y.; Posafalvi, Anna; van den Berg, Maarten P.; Hilfiker-Kleiner, Denise; Bollen, Ilse A. E.; Sliwa, Karen; Alders, Mariëlle; Almomani, Rowida; van Langen, Irene M.; van der Meer, Peter; Sinke, Richard J.; van der Velden, Jolanda; van Veldhuisen, Dirk J.; van Tintelen, J. Peter; Jongbloed, Jan D. H.

    2014-01-01

    Peripartum cardiomyopathy (PPCM) can be an initial manifestation of familial dilated cardiomyopathy (DCM). We aimed to identify mutations in families that could underlie their PPCM and DCM. We collected 18 families with PPCM and DCM cases from various countries. We studied the clinical

  15. Clinical-radiological experiences in patients with hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Hofmann, A; Bonse, G; Beck, B; Sauter, E; Sundermeyer, R; Gunkel, L V

    1986-09-01

    The hypertrophic cardiomyopathy shows a series of interesting clinical and radiological problems, discussed in case of selected patients. A special difficult problem arises in the differential diagnosis of hypertrophic cardiomyopathy and cardiac disease secondary to systemic hypertension.

  16. Frequency and clinical genetics of familial dilated cardiomyopathy in ...

    African Journals Online (AJOL)

    Frequency and clinical genetics of familial dilated cardiomyopathy in Cape Town: Implications for the evaluation of patients with unexplained cardiomyopathy. NBA Ntusi, A Wonkam, G Shaboodien, M Badri, BM Mayosi ...

  17. The incidence and aetiology of acute pancreatitis across Europe.

    Science.gov (United States)

    Roberts, Stephen E; Morrison-Rees, Sian; John, Ann; Williams, John G; Brown, Tim H; Samuel, David G

    Acute pancreatitis is increasingly one of the most important acute gastrointestinal conditions throughout much of the world, although incidence and aetiology varies across countries and regions. This study investigated regional and national patterns in the incidence and aetiology of acute pancreatitis, demographic patterns in incidence and trends over time in incidence across Europe. A structured review of acute pancreatitis incidence and aetiology from studies of hospitalised patient case series, cohort studies or other population based studies from 1989 to 2015 and a review of trends in incidence from 1970 to 2015 across all 51 European states. The incidence of acute pancreatitis was reported from 17 countries across Europe and ranged from 4.6 to 100 per 100 000 population. Incidence was usually highest in eastern or northern Europe, although reported rates often varied according to case ascertainment criteria. Of 20 studies that reported on trends in incidence, all but three show percentage increases over time (overall median increase = 3.4% per annum; range = -0.4%-73%). The highest ratios of gallstone to alcohol aetiologies were identified in southern Europe (Greece, Turkey, Italy and Croatia) with lowest ratios mainly in eastern Europe (Latvia, Finland, Romania, Hungary, Russia and Lithuania). The incidence of acute pancreatitis varies across Europe. Gallstone is the dominant aetiology in southern Europe and alcohol in eastern Europe with intermediate ratios in northern and western Europe. Acute pancreatitis continues to increase throughout most of Europe. Copyright © 2017. Published by Elsevier B.V.

  18. Aetiology of thrombosed external haemorrhoids: a questionnaire study

    Directory of Open Access Journals (Sweden)

    Rohde Henning

    2009-10-01

    Full Text Available Abstract Background It is important to better understand the aetiology of thrombosed external haemorrhoids (TEH because recurrence rates are high, prophylaxis is unknown, and optimal therapy is highly debated. Findings We conducted a questionnaire study of individuals with and without TEH. Aetiology was studied by comparison of answers to a questionnaire given to individuals with and without TEH concerning demography, history, and published aetiologic hypotheses. Participants were evaluated consecutively at our institution from March 2004 through August 2005. One hundred forty-eight individuals were enrolled, including 72 patients with TEH and 76 individuals without TEH but with alternative diagnoses, such as a screening colonoscopy or colonic polyps. Out of 38 possible aetiologic factors evaluated, 20 showed no significant bivariate correlation to TEH and were no longer traced, and 16 factors showed a significant bivariate relationship to TEH. By multivariate analysis, six independent variables were found to predict TEH correctly in 79.1% of cases: age of 46 years or younger, use of excessive physical effort, and use of dry toilet paper combined with wet cleaning methods after defaecation were associated with a significantly higher risk of developing TEH; use of bathtub, use of the shower, and genital cleaning before sleep at least once a week were associated with a significantly lower risk of developing TEH. Conclusion Six hypotheses on the causes of TEH have a high probability of being correct and should be considered in future studies on aetiology, prophylaxis, and therapy of TEH.

  19. Apical Hypertrophic Cardiomyopathy in Association with PulmonaryArtery Hypertension

    Directory of Open Access Journals (Sweden)

    Mehdi Peighambari

    2012-09-01

    Full Text Available Apical Hypertrophic Cardiomyopathy is an uncommon condition constituting 1% -2% of the cases with Hypertrophic Cardiomyopathy (HCM diagnosis. We interestingly report two patients with apical hypertrophic cardiomyopathy in association with significant pulmonary artery hypertension without any other underlying reason for pulmonary hypertension. The patients were assessed by echocardiography, cardiac catheterization and pulmonary function parameters study.

  20. Metabolic imaging of patients with cardiomyopathy

    International Nuclear Information System (INIS)

    Geltman, E.M.

    1991-01-01

    The cardiomyopathies comprise a diverse group of illnesses that can be characterized functionally by several techniques. However, the delineation of derangements of regional perfusion and metabolism have been accomplished only relatively recently with positron emission tomography (PET). Regional myocardial accumulation and clearance of 11C-palmitate, the primary myocardial substrate under most conditions, demonstrate marked spatial heterogeneity when studied under fasting conditions or with glucose loading. PET with 11C-palmitate permits the noninvasive differentiation of patients with nonischemic from ischemic dilated cardiomyopathy, since patients with ischemic cardiomyopathy demonstrate large zones of intensely depressed accumulation of 11C-palmitate, probably reflecting prior infarction. Patients with hypertrophic cardiomyopathy and Duchenne's muscular dystrophy demonstrate relatively unique patterns of myocardial abnormalities of perfusion and metabolism. The availability of new tracers and techniques for the evaluation of myocardial metabolism (11C-acetate), perfusion (H2(15)O), and autonomic tone (11-C-hydroxyephedrine) should facilitate further understanding of the pathogenesis of the cardiomyopathies

  1. Myocarditis in Paediatric Patients: Unveiling the Progression to Dilated Cardiomyopathy and Heart Failure

    Directory of Open Access Journals (Sweden)

    Inês Teixeira Farinha

    2016-11-01

    Full Text Available Myocarditis is a challenging and potentially life-threatening disease associated with high morbidity in some paediatric patients, due to its ability to present as an acute and fulminant disease and to ultimately progress to dilated cardiomyopathy. It has been described as an inflammatory disease of the myocardium caused by diverse aetiologies. Viral infection is the most frequent cause of myocarditis in developed countries, but bacterial and protozoal infections or drug hypersensitivity may also be causative agents. The prompt diagnosis in paediatric patients is difficult, as the spectrum of clinical manifestation can range from no myocardial dysfunction to sudden cardiac death. Recent studies on myocarditis pathogenesis have revealed a triphasic nature of this disease, which influences the diagnostic and therapeutic strategies to adopt in each patient. Endomyocardial biopsy remains the gold standard for diagnosing myocarditis, and several non-invasive diagnostic tools can be used to support the diagnosis. Intravenous immunoglobulin has become part of routine practice in the treatment of myocarditis in paediatric patients at many centres, but its true effect on the cardiac function has been the target of many studies. The aim of this review is to approach the recently discovered facets of paediatric myocarditis regarding its progression to dilated cardiomyopathy.

  2. Subaortic membrane mimicking hypertrophic cardiomyopathy.

    Science.gov (United States)

    Anderson, Mark Joseph; Arruda-Olson, Adelaide; Gersh, Bernard; Geske, Jeffrey

    2015-11-04

    A 34-year-old man was referred for progressive angina and exertional dyspnoea refractory to medical therapy, with a presumptive diagnosis of hypertrophic cardiomyopathy (HCM). Transthoracic echocardiography (TTE) revealed asymmetric septal hypertrophy without systolic anterior motion of the mitral valve leaflet and with no dynamic left ventricular outflow tract (LVOT) obstruction. However, the LVOT velocity was elevated at rest as well as with provocation, without the characteristic late peaking obstruction seen in HCM. Focused TTE to evaluate for suspected fixed obstruction demonstrated a subaortic membrane 2.2 cm below the aortic valve. Coronary CT angiography confirmed the presence of the subaortic membrane and was negative for concomitant coronary artery disease. Surgical resection of the subaortic membrane and septal myectomy resulted in significant symptomatic relief and lower LVOT velocities on postoperative TTE. This case reminds the clinician to carefully evaluate for alternative causes of LVOT obstruction, especially subaortic membrane, as a cause of symptoms mimicking HCM. 2015 BMJ Publishing Group Ltd.

  3. Mitochondrial Dynamics in Diabetic Cardiomyopathy

    Science.gov (United States)

    Galloway, Chad A.

    2015-01-01

    Abstract Significance: Cardiac function is energetically demanding, reliant on efficient well-coupled mitochondria to generate adenosine triphosphate and fulfill the cardiac demand. Predictably then, mitochondrial dysfunction is associated with cardiac pathologies, often related to metabolic disease, most commonly diabetes. Diabetic cardiomyopathy (DCM), characterized by decreased left ventricular function, arises independently of coronary artery disease and atherosclerosis. Dysregulation of Ca2+ handling, metabolic changes, and oxidative stress are observed in DCM, abnormalities reflected in alterations in mitochondrial energetics. Cardiac tissue from DCM patients also presents with altered mitochondrial morphology, suggesting a possible role of mitochondrial dynamics in its pathological progression. Recent Advances: Abnormal mitochondrial morphology is associated with pathologies across diverse tissues, suggesting that this highly regulated process is essential for proper cell maintenance and physiological homeostasis. Highly structured cardiac myofibers were hypothesized to limit alterations in mitochondrial morphology; however, recent work has identified morphological changes in cardiac tissue, specifically in DCM. Critical Issues: Mitochondrial dysfunction has been reported independently from observations of altered mitochondrial morphology in DCM. The temporal relationship and causative nature between functional and morphological changes of mitochondria in the establishment/progression of DCM is unclear. Future Directions: Altered mitochondrial energetics and morphology are not only causal for but also consequential to reactive oxygen species production, hence exacerbating oxidative damage through reciprocal amplification, which is integral to the progression of DCM. Therefore, targeting mitochondria for DCM will require better mechanistic characterization of morphological distortion and bioenergetic dysfunction. Antioxid. Redox Signal. 22, 1545–1562. PMID

  4. Fractalkine in human inflammatory cardiomyopathy.

    Science.gov (United States)

    Escher, F; Vetter, R; Kühl, U; Westermann, D; Schultheiss, H-P; Tschöpe, C

    2011-05-01

    Cardiac inflammation is important for the prognosis of patients with inflammatory cardiomyopathy (CMi), but the mechanisms leading to it are not fully elucidated. To study the role of fractalkine (CX3CL1) in chemotactic and adhesive properties of peripheral blood mononuclear cells (PBMCs) in patients with CMi. Patients with enterovirus (EV)-positive CMi, patients with virus-negative CMi, patients with parvovirus B19 (B19) genomes with low intramyocardial inflammation and patients without cardiac inflammation and viral infection in the endomyocardial biopsy (EMB) were enrolled (n=10/group). The expression of CX3CL1 and monocyte chemoattractant protein (MCP-1) in EMBs was significantly increased in EV-positive and virus-negative patients with CMi in contrast to controls and B19-positive patients (EV+ vs controls: CX3CL1-area fraction (AF) % 0.078±0.012 vs 0.009±0.003 pattenuated positive chronotropic response to β-adrenergic stimulation with isoproterenol. The cardiac and plasma CX3CL1/CX3CR1 system is upregulated in CMi and this affects the functional potential of PBMCs. Moreover, a direct cardiodepressive effect of CX3CL1 in cardiac tissue was demonstrated since neonatal cardiomyocytes exhibited an attenuated positive chronotropic response to β-adrenergic stimulation.

  5. Triple axis spectrometers

    International Nuclear Information System (INIS)

    Clausen, K.N.

    1997-01-01

    Conventional triple-axis neutron spectroscopy was developed by Brockhouse over thirty years ago' and remains today a versatile and powerful tool for probing the dynamics of condensed matter. The original design of the triple axis spectrometer is technically simple and probes momentum and energy space on a point-by-point basis. This ability to systematically probe the scattering function in a way which only requires a few angles to be moved under computer control and where the observed data in general can be analysed using a pencil and graph paper or a simple fitting routine, has been essential for the success of the method. These constraints were quite reasonable at the time the technique was developed. Advances in computer based data acquisition, neutron beam optics, and position sensitive area detectors have been gradually implemented on many triple axis spectrometer spectrometers, but the full potential of this has not been fully exploited yet. Further improvement in terms of efficiency (beyond point by point inspection) and increased sensitivity (use of focusing optics whenever the problem allows it) could easily be up to a factor of 10-20 over present instruments for many problems at a cost which is negligible compared to that of increasing the flux of the source. The real cost will be in complexity - finding the optimal set-up for a given scan and interpreting the data as the they are taken. On-line transformation of the data for an appropriate display in Q, ω space and analysis tools will be equally important for this task, and the success of these new ideas will crucially depend on how well we solve these problems. (author)

  6. Cardiovascular magnetic resonance in hypertrophic cardiomyopathy and infiltrative cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Rebecca Schofield

    2016-11-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is the most common inherited cardiac disease. Cardiac imaging plays a key role in the diagnosis and management, with cardiovascular magnetic resonance (CMR an important modality. CMR provides a number of different techniques in one examination: structure and function, flow imaging and tissue characterisation particularly with the late gadolinium enhancement (LGE technique. Other techniques include vasodilator perfusion, mapping (especially T1 mapping and extracellular volume quantification [ECV] and diffusion-weighted imaging with its potential to detect disarray. Clinically, the uses of CMR are diverse. The imaging must be considered within the context of work-up, particularly the personal and family history, Electrocardiogram (ECG and echocardiogram findings. Subtle markers of possible HCM can be identified in genotype positive left ventricular hypertrophy (LVH-negative subjects. CMR has particular advantages for assessment of the left ventricle (LV apex and is able to detect both missed LVH (apical and basal antero-septum, when the echocardiography is normal but the ECG abnormal. CMR is important in distinguishing HCM from both common phenocopies (hypertensive heart disease, athletic adaptation, ageing related changes and rarer pheno and/or genocopies such as Fabry disease and amyloidosis. For these, in particular the LGE technique and T1 mapping are very useful with a low T1 in Fabry’s, and high T1 and very high ECV in amyloidosis. Moreover, the tissue characterisation that is possible using CMR offers a potential role in patient risk stratification, as scar is a very strong predictor of future heart failure. Scar may also play a role in the prediction of sudden death. CMR is helpful in follow-up assessment, especially after septal alcohol ablation and myomectomy.

  7. Prevalence and Aetiology of Congenitally Deafblind People in Denmark

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2010-01-01

    A study of prevalence and aetiology was performed on 63 children and 127 adults in Denmark with congenital deafblindness. Using a Scandinavian definition of deafblindness, the prevalence of congenital deafblindness was found to be 1:29,000. Thirty-five different aetiological causes of deafblindness...... were found. Causes of congenital deafblindness were different among adults compared to causes among children. Rubella syndrome (28%, n = 36) and Down syndrome (8%, n = 10) were the largest groups among people above 18 years of age. Among children CHARGE syndrome (16%, n = 13) was the largest group...

  8. Cardiomyopathy from 1,1-Difluoroethane Inhalation.

    Science.gov (United States)

    Kumar, Suwen; Joginpally, Tejaswini; Kim, David; Yadava, Mrinal; Norgais, Konchok; Laird-Fick, Heather S

    2016-10-01

    Consumer aerosol products can be inhaled for their psychoactive effects, but with attendant adverse health effects including "sudden sniffing death." Cardiomyopathy has rarely been described in association with 1,1-difluoroethane (DFE), a common aerosol propellant. We report a 33-year-old male who developed acute myocardial injury and global hypokinesis along with rhabdomyolysis, acute kidney injury, and fulminant hepatitis after 2 days' nearly continuous huffing. Workup for other causes, including underlying coronary artery disease, was negative. His cardiac function improved over time. The exact mechanism of DFE's effects is uncertain but may include catecholamine-induced cardiomyopathy, coronary vasospasm, or direct cellular toxicity.

  9. Controversies Surrounding Exercise in Genetic Cardiomyopathies.

    Science.gov (United States)

    Atteya, Gourg; Lampert, Rachel

    2018-04-01

    Exercise and sports are an integral part of daily life for millions of Americans, with 16% of the US population older than age 15 years engaged in sports or exercise activities (Bureau of Labor statistics). The physical and psychological benefits of exercise are well-recognized. However, high-profile cases of athletes dying suddenly on the field, often due to undiagnosed genetic cardiomyopathies, raise questions about the risks and benefits of exercise for those with cardiomyopathy. Copyright © 2018 Elsevier Inc. All rights reserved.

  10. Harmonic analysis on triple spaces

    DEFF Research Database (Denmark)

    Danielsen, Thomas Hjortgaard

    In this thesis we study examples of triple spaces, both their structure theory, their invariant differential operators as well as analysis on them. The first major results provide us with some examples of triple spaces which are strongly spherical, i.e. satisfy some conditions reminiscent...

  11. Teaching Triple Science: GCSE Chemistry

    Science.gov (United States)

    Learning and Skills Network (NJ3), 2007

    2007-01-01

    The Department for Children, Schools and Families (DCSF) has contracted with the Learning and Skills Network to support awareness and take-up of Triple Science GCSEs through the Triple Science Support Programme. This publication provides an introduction to teaching and learning approaches for the extension topics within GCSE Chemistry. It…

  12. [Scoliosis: review of types, aetiology, diagnostics, and treatment 1

    NARCIS (Netherlands)

    de Baat, P.; van Biezen, E.C.; de Baat, C.

    2012-01-01

    A scoliosis is a flexible or rigid deformity of the spine in the frontal plane. There are several types of scoliosis, each with specific characteristics. The most prevalent types are idiopathic, congenital, and neuromuscular scoliosis and scoliosis in adults. The aetiology is varied and largely

  13. Aetiology of hypospadias: a systematic review of genes and environment.

    NARCIS (Netherlands)

    Zanden, L.F.M. van der; Rooij, I.A.L.M. van; Feitz, W.F.J.; Franke, B.; Knoers, N.V.A.M.; Roeleveld, N.

    2012-01-01

    BACKGROUND: Hypospadias is a common congenital malformation of the male external genitalia. Most cases have an unknown aetiology, which is probably a mix of monogenic and multifactorial forms, implicating both genes and environmental factors. This review summarizes current knowledge about the

  14. [AETIOLOGY AND PATHOGENESIS GASTRO-DUODENALES ULCERATIVE LESIONS IN ELDERLY].

    Science.gov (United States)

    Chernekhovskaya, N E; Povalayev, A V; Layshenko, G A

    2015-01-01

    In review today conceptions of view to aetiology and pathogenesis gastro-duodenales ulcerative lesions in elderly. Atherosclerosis, ischemic disease of the heart and hypertension are reasons of acute ulcers and erosions in elderly. The breaking of microcirculation are very importance.

  15. Aetiology, imaging and treatment of medial tibial stress syndrome

    NARCIS (Netherlands)

    Moen, M.H.

    2012-01-01

    The work contained is this thesis discusses aetiology, imaging and treatment of a common leg injury: medial tibial stress syndrome (MTSS). Although a common injury, the number of scientific articles on this topic is relatively low as is explained in chapter 1. This chapter also highlights that the

  16. The aetiology of idiopathic scoliosis : biomechanical and neuromuscular factors

    NARCIS (Netherlands)

    Veldhuizen, AG; Webb, PJ

    The aetiology of adolescent idiopathic scoliosis (AIS) remains an enigma. In the literature there are two opinions: one believes a deviating growth pattern is responsible for the condition - patients with AIS lend to be growing faster/be taller - while the other opinion assumes that the growth

  17. Occurrence, aetiology and challenges in the management of ...

    African Journals Online (AJOL)

    Introduction: The aim of the study was to investigate the occurrence, the aetiology and the management of congestive heart failure in the cardiac centre of the St. Elizabeth catholic general hospital Shisong in Cameroon. Methods: Between November 2002 and November 2008, a population of 8121 patients was consulted in ...

  18. Bilateral triple renal arteries

    International Nuclear Information System (INIS)

    Pestemalci, Turan; Yildiz, Yusuf Zeki; Yildirim, Mehmet; Mavi, Ayfer; Gumusburun, Erdem

    2009-01-01

    Knowledge of the variations of the renal artery has grown in importance with increasing numbers of renal transplants, vascular reconstructions and various surgical and radio logic techniques being performed in recent years. We report the presence of bilateral triple renal arteries, discovered on routine dissection of a male cadaver. On the right side, one additional renal artery originated from the abdominal aorta (distributed to superior pole of the kidney) and one other originated from the right common iliac artery (distributed to lower pole of the kidney). On the left side, both additional renal arteries originated from the abdominal aorta. Our observation has been compared with variations described in the literature and their clinical importance has been emphasized. (author)

  19. Celiac disease with pulmonary haemosiderosis and cardiomyopathy

    OpenAIRE

    Işikay, Sedat; Yilmaz, Kutluhan; Kilinç, Metin

    2012-01-01

    Celiac disease or pulmonary haemosiderosis can be associated with several distinguished conditions. Pulmonary haemosiderosis is a rare, severe and fatal disease characterised by recurrent episodes of alveolar haemorrhage, haemoptysis and anaemia. Association of pulmonary haemosiderosis and celiac disease is extremely rare. We describe a case of celiac disease presented with dilated cardiomyopathy and pulmonary haemosiderosis without gastrointestinal symptoms of celiac disease. In addition, vi...

  20. Clinical and molecular classification of cardiomyopathies

    Directory of Open Access Journals (Sweden)

    Franco Cecchi

    2012-07-01

    Full Text Available The term “cardiomyopathies” was used for the first time 55 years ago, in 1957. Since then awareness and knowledge of this important and complex group of heart muscle diseases have improved substantially. Over these past five decades a large number of definitions, nomenclature and schemes, have been advanced by experts and consensus panel, which reflect the fast and continued advance of the scientific understanding in the field. Cardiomyopathies are a heterogeneous group of inherited myocardial diseases, which represent an important cause of disability and adverse outcome. Although considered rare diseases, the overall estimated prevalence of all cardiomyopathies is at least 3% in the general population worldwide. Furthermore, their recognition is increasing due to advances in imaging techniques and greater awareness in both the public and medical community. Cardiomyopathies represent an ideal translational model of integration between basic and clinical sciences. A multidisciplinary approach is therefore essential in order to ensure their correct diagnosis and management. In the present work, we aim to provide a concise overview of the historical background, genetic and phenotypic spectrum and evolving concepts leading to the various attempts of cardiomyopathy classifications produced over the decades.

  1. Pregnancy in women with hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    Pieper, P. G.; Walker, F.

    Hypertrophic cardiomyopathy (HCM) is increasingly being diagnosed in pregnant women. Women with HCM generally tolerate pregnancy well. The risk is however higher in women who are symptomatic before pregnancy or in those with severe left ventricular outflow tract obstruction. The incidence of

  2. Tako-tsubo cardiomyopathy after a quarrel.

    African Journals Online (AJOL)

    Tako-tsubo cardiomyopathy after a quarrel. Dong-Mei Jiang1,a, Ze-Wei Sunc2,a, Jie Han2. 1. Department of Cardiology, Biomedical research (therapy) center, Sir Run Run Shaw Hospital,. College of ... acterized by (1) sudden onset of chest pain or shortness of breath; (2) ... In the present report, we de- scribe a case of ...

  3. Update in cardiomyopathies and congestive heart failure

    Directory of Open Access Journals (Sweden)

    The Heart Hospital, London, UK and Monaldi Hospital, Naples, Italy

    2012-05-01

    Full Text Available This abstract book contains four reports and all abstracts presented to the Joint Meeting: Update in cardiomyopathies and congestive heart failure, 22-23 September 2011 - Naples, Italy, endorsed by the Working Group on Myocardial and Pericardial Diseases (WG 21 of the European Society of Cardiology (ESC.

  4. BAG3 myofibrillar myopathy presenting with cardiomyopathy.

    Science.gov (United States)

    Konersman, Chamindra G; Bordini, Brett J; Scharer, Gunter; Lawlor, Michael W; Zangwill, Steven; Southern, James F; Amos, Louella; Geddes, Gabrielle C; Kliegman, Robert; Collins, Michael P

    2015-05-01

    Myofibrillar myopathies (MFMs) are a heterogeneous group of neuromuscular disorders distinguished by the pathological hallmark of myofibrillar dissolution. Most patients present in adulthood, but mutations in several genes including BCL2-associated athanogene 3 (BAG3) cause predominantly childhood-onset disease. BAG3-related MFM is particularly severe, featuring weakness, cardiomyopathy, neuropathy, and early lethality. While prior cases reported either neuromuscular weakness or concurrent weakness and cardiomyopathy at onset, we describe the first case in which cardiomyopathy and cardiac transplantation (age eight) preceded neuromuscular weakness by several years (age 12). The phenotype comprised distal weakness and severe sensorimotor neuropathy. Nerve biopsy was primarily axonal with secondary demyelinating/remyelinating changes without "giant axons." Muscle biopsy showed extensive neuropathic changes that made myopathic changes difficult to interpret. Similar to previous cases, a p.Pro209Leu mutation in exon 3 of BAG3 was found. This case underlines the importance of evaluating for MFMs in patients with combined neuromuscular weakness and cardiomyopathy. Copyright © 2015 Elsevier B.V. All rights reserved.

  5. [Chewing on bruxism. Diagnosis, imaging, epidemiology and aetiology].

    Science.gov (United States)

    Lobbezoo, F; Jacobs, R; De Laat, A; Aarab, G; Wetselaar, P; Manfredini, D

    2017-06-01

    Since the publication of a special issue on bruxism of the NTvT in July 2000, consensus has been reached on bruxism's definition as a repetitive masticatory muscle activity that is characterised by clenching and/or grinding while awake (awake bruxism) or during sleep (sleep bruxism). As yet, however, no consensus exists about the diagnosis of bruxism: sufficient evidence to establish the reliability and validity of the commonly used techniques (self-report, clinical examination, imaging, electromyography, polysomnography) has not yet been produced. Morphological factors are no longer considered important aetiological factors, while increasing evidence suggests aetiological roles for psychosocial, physiological, biological, and exogenous factors. This review paper is the first part of a diptych and is concerned with the definition, diagnostics, epidemiology and possible causes of this disorder. In the second part, that will be published in the next issue, associations of bruxism with other conditions will be discussed, along with its (purported) consequences and its management.

  6. Neuroendocrine mechanisms and the aetiology of male and female homosexuality.

    Science.gov (United States)

    MacCulloch, M J; Waddington, J L

    1981-10-01

    Theories on the classification and aetiology of male homosexuality are reviewed, particularly recent hypotheses on the role of prenatal hormonal influences on brain sexual differentiation and subsequent sexual object choice in the male. Female as well as male brain sexual differentiation may be hormonally determined, and so primary homosexuality in both sexes may be due to abnormalities in foetal exposure to hormones, leading first to physical mis-differentiation and later to homosexual behaviour in genetically and phenotypically normal men and women.

  7. Multiple aetiologies of secondary hypertension in one patient

    OpenAIRE

    Golan, Eliezer; Nabriski, Danny; Sharabi, Yehonatan; Werner, Miryam; Griton, Yigal; Moshkovich, Evgeny; Korzets, Ze?ev

    2008-01-01

    Apart from seeking target organ damage, the investigation of hypertension is primarily aimed at finding a treatable cause of the hypertension. The finding of one such cause is usually construed as being the sole culprit responsible for the patient's elevated blood pressure. The existence of multiple aetiologies of secondary hypertension in one patient is infrequent. In this report, we describe such a patient in whom secondary hypertension due to Cushing's disease, renovascular and finally bar...

  8. Aetiology, imaging and treatment of medial tibial stress syndrome

    OpenAIRE

    Moen, M.H.

    2012-01-01

    The work contained is this thesis discusses aetiology, imaging and treatment of a common leg injury: medial tibial stress syndrome (MTSS). Although a common injury, the number of scientific articles on this topic is relatively low as is explained in chapter 1. This chapter also highlights that the most probable cause of MTSS is bone overload and not traction induced periostitis. In chapter 2 a review of the literature on MTSS is provided until 2009. Chapters 3 and 4 discuss different common a...

  9. Aetiology of auditory dysfunction in amusia: a systematic review.

    Science.gov (United States)

    Casey, Daniel Aj

    2013-04-24

    Amusia, a music-specific agnosia, is a disorder of pitch interval analysis and pitch direction change recognition which results in a deficit in musical ability. The full range of aetiological factors which cause this condition is unknown, as is each cause's frequency. The objective of this study was to identify all causes of amusia, and to measure each of their frequencies. systematic review was conducted by search of multiple databases for articles related to the aetiology of amusic auditory dysfunction. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines for reporting of systematic reviews were followed, utilizing the PRISMA checklist and PRISMA flowchart methodology. Retrospective medical database review. evidence yielded from the systematic review process. The initial search protocol identified 5723 articles. Application of a classification review filter and exclusion of irrelevant or duplicates led to the initial identification of 56 relevant studies which detailed 301 patients. However, these studies were of poor quality. Because of this, synthesis and statistical analysis were not appropriate. Although initially a large number of relevant studies were identified, and might point in future to potential diagnostic categories, it was not appropriate to synthesise and analyse them due to poor quality, considerable heterogeneity and small numbers. This suggests that large, high quality studies focussed directly on understanding the aetiology of amusia are required.

  10. Intestinal volvulus: aetiology, morbidity and mortality in Tunisian children.

    Science.gov (United States)

    Faouzi, Nouira; Yosra, Ben Ahmed; Said, Jlidi; Soufiane, Ghorbel; Aouatef, Charieg; Rachid, Khemakhem; Beji, Chaouachi

    2011-01-01

    Intestinal volvulus (IV) can occur at various sites of the gastrointestinal tract. In Europe, IV in children is most frequently due to malrotation but in Asia Ascaris infestation is a common cause. This report reviews the experience with IV in children in Tunisia; analyzes the aetiologies as well as the clinical presentations and the benefits of the Ladd's procedure in the treatment of the IV. The authors retrospectively reviewed the case records of all children with IV from January 2000 to December 2009 at the Tunis Children's Hospital. There were 22 boys and nine girls with an age range of one day to four years. Twenty-five (80%) patients presented during the neonatal period. The most common presentation was bilious vomiting and dehydration. The aetiology was identified in all patients: Anomalies in rotation (n=22), omphalo-mesenteric duct (n=3), internal hernia (n=3), cystic lymphangioma (n=2), caocal volvulus (n=1). The bowel resection rate for gangrene was 16%. All patients with malrotation had Ladd's procedure performed. Five patients (19%) developed wound infections. One patient presented with adhesive small bowel obstruction. There were no recurrences following Ladd's procedure for malrotation. Two neonates (6%) died from overwhelming infections. Intestinal volvulus in our environment differs in aetiology from other reports. The resection rates are not similar, however. Early diagnosis reduced the high morbidity and mortality in our study.

  11. Cushing's syndrome in pregnancy and neonatal hypertrophic obstructive cardiomyopathy.

    Science.gov (United States)

    Fayol, L; Masson, P; Millet, V; Simeoni, U

    2004-10-01

    Cushing's syndrome is rare in pregnancy but can cause spontaneous abortion, stillbirth or premature birth. We report a case of transient hypertrophic obstructive cardiomyopathy in a newborn whose mother had hypercortisolism due to a primary adrenal lesion. There was no family history of hypertrophic obstructive cardiomyopathy. Follow-up revealed complete resolution of the cardiac abnormalities in the infant. Cushing's syndrome in the mother resolved after delivery. Although maternal hypercortisolism seldom results in symptomatic hypercortisolism in the newborn, hypertrophic obstructive cardiomyopathy can occur.

  12. Assessment of hypertrophic cardiomyopathy by ECG gated cardiac computed tomography

    International Nuclear Information System (INIS)

    Takeuchi, Kazuhide; Tanaka, Chujiro; Oku, Hisao

    1981-01-01

    The applicability of ECG gated cardiac computed tomography (CT) in 12 patients with hypertrophic cardiomyopathy was examined. Six of the 12 patients had hypertrophic obstructive cardiomyopathy, including one patient with mid-ventricular obstruction. Three of the 12 patients had hypertrophic non-obstructive cardiomyopathy, and three had apical hypertrophic cardiomyopathy. The diagnosis of hypertrophic cardiomyopathy was confirmed by the angiocardiogram in all patients. Cardiac CT was performed after intravenous administration of contrast media usually given as a bolus injection. The gantry was set with positive 20 0 tilt angle. In all patients with hypertrophic obstructive cardiomyopathy except for mid-ventricular obstruction, the hypertrophied interventricular septum in the basal and mid portions was observed, and the left ventricular cavity was narrowed in systole. In a patient with mid-ventricular obstruction, the marked hypertrophied interventricular septum and antero-lateral papillary muscle were observed. In diastole, the left ventricular cavity was narrow and divided into two parts. The apical cavity was completely disappeared in systole. In all patients with hypertrophic non-obstructive cardiomyopathy, the diffuse hypertrophied interventricular septum was observed in diastole. In systole, the apical portion of the left ventricular cavity was markedly narrow and antero-lateral papillary muscle was hypertrophic. In all patients with apical hypertrophic cardiomyopathy, the marked apical hypertrophy of the left ventricular wall was observed in diastole. It is concluded that ECG gated cardiac CT could estimate myocardial wall motion and thickness and differentiate the types of hypertrophic cardiomyopathy each other. (author)

  13. Cardiovascular magnetic resonance in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Shiozaki, Afonso Akio; Parga, Jose Rodrigues; Arteaga, Edmundo; Rochitte, Carlos Eduardo; Tassi, Eduardo Marinho

    2007-01-01

    Hypertrophic cardiomyopathy (HCM) is the most frequent genetic cardiac disease that causes sudden death in young people, with an incidence of 1:500 adults. The routinely used criteria for worst prognosis have limited sensitivity and specificity. Thus, the estimated risk of evolving to dilated cardiomyopathy or sudden death is somewhat inaccurate, leading to management uncertainty of HCM patients. Therefore, an accurate noninvasive method for the diagnosis of HCM with prognostic value is of great importance. In the last years, Cardiovascular Magnetic Resonance (CMR) emerged not only as a diagnostic tool, but also as a study with prognostic values, by characterizing myocardial fibrosis with great accuracy in HCM patients. Additionally, CMR identifies the types of hypertrophy, analyses the ventricular function, estimates the intraventricular gradient and allows the determination of differential diagnosis. Moreover, CMR can uniquely access myocardial fibrosis in HCM. (author)

  14. Histologic characterization of canine dilated cardiomyopathy.

    Science.gov (United States)

    Tidholm, A; Jönsson, L

    2005-01-01

    Dilated cardiomyopathy (DCM), characterized by chamber dilatation and myocardial systolic and diastolic dysfunction, is one of the most common heart diseases in dogs. The clinical diagnosis is based on findings on echocardiographic and Doppler examinations, with the active exclusion of other acquired or congenital heart diseases. However, the echocardiographic criteria for the diagnosis of DCM are not wholly specific for the disease, and histologic examination may be necessary for final diagnosis. Review of reports on histologic findings in dogs with clinically diagnosed DCM reveals two histologically distinct forms of DCM: 1) cardiomyopathy of Boxers and Doberman Pinschers, corresponding to the "fatty infiltration-degenerative" type and 2) the form seen in many giant, large-, and medium-sized breeds, including some Boxers and Doberman Pinschers, classified as the "attenuated wavy fiber" type of DCM. The histologic changes of the attenuated wavy fiber type of DCM may precede clinical and echocardiographic signs of heart disease, thus indicating an early stage of DCM.

  15. Magnetic resonance imaging in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Ichida, Fukiko; Hamamichi, Yuuji; Hashimoto, Ikuo; Tsubata, Shinichi; Miyazaki, Ayumi; Okada, Toshio; Futatsuya, Ryuusuke; Okada, Eikichi

    1994-01-01

    To evaluate the capability of magnetic resonance imaging (MRI) in the anatomical diagnosis and tissue characterization, 8 children with hypertrophic cardiomyopathy were studied comparing with echocardiography and 201 Tl myocardial imaging. The severity and distribution of hypertrophy were comparable on echocardiography and MRI. MRI was superior to echocardiography to demonstrate the apical hypertrophy. In 4 patients with severe hypertrophy, heterogenous high signal intensity was demonstrated in the site of hypertrophy, which was enhanced by T 2 weighted imaging. In the patient with decreased cardiac performance and progressed cardiac failure, the heterogeneity and high signal intensity progressed in one year interval. Simultaneously performed 201 Tl myocardial imaging showed patchy perfusion defect. Histological findings of the left ventricle demonstrated hypertrophy, degeneration and marked dysarray of the myocytes and fibrosis. MRI has the potential ability for the evaluation and sequential monitoring of myocardial tissue characterization as well as cardiac anatomy in childhood hypertrophic cardiomyopathy. (author)

  16. Magnetic resonance imaging in hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Ichida, Fukiko; Hamamichi, Yuuji; Hashimoto, Ikuo; Tsubata, Shinichi; Miyazaki, Ayumi; Okada, Toshio; Futatsuya, Ryuusuke; Okada, Eikichi [Toyama Medical and Pharmaceutical Univ. (Japan)

    1994-02-01

    To evaluate the capability of magnetic resonance imaging (MRI) in the anatomical diagnosis and tissue characterization, 8 children with hypertrophic cardiomyopathy were studied comparing with echocardiography and [sup 201]Tl myocardial imaging. The severity and distribution of hypertrophy were comparable on echocardiography and MRI. MRI was superior to echocardiography to demonstrate the apical hypertrophy. In 4 patients with severe hypertrophy, heterogenous high signal intensity was demonstrated in the site of hypertrophy, which was enhanced by T[sub 2] weighted imaging. In the patient with decreased cardiac performance and progressed cardiac failure, the heterogeneity and high signal intensity progressed in one year interval. Simultaneously performed [sup 201]Tl myocardial imaging showed patchy perfusion defect. Histological findings of the left ventricle demonstrated hypertrophy, degeneration and marked dysarray of the myocytes and fibrosis. MRI has the potential ability for the evaluation and sequential monitoring of myocardial tissue characterization as well as cardiac anatomy in childhood hypertrophic cardiomyopathy. (author).

  17. NON-TRAUMATIC COMA- INCIDENCE, AETIOLOGY AND OUTCOME

    Directory of Open Access Journals (Sweden)

    Mallikarjun R. Patil

    2017-10-01

    Full Text Available BACKGROUND Acute non-traumatic coma is one of the most common paediatric emergencies, which arouses much anxiety and apprehension in both parents and physicians. Due to heterogeneity of causes in these patients, prediction of outcome is difficult and unfortunately no single clinical, laboratory or electrophysiological parameters singly predict their outcome. Aetiology of nontraumatic coma varies depending on different geographical area. We have attempted to find the incidence, aetiology and outcome and delineate neurological signs to predict the prognosis in this study. The aim of this study is to study the incidence, aetiology and outcome of non-traumatic coma in children. MATERIALS AND METHODS 100 consecutive cases of non-traumatic coma between 5months and 15 years of age were selected for the study. Clinical signs and findings were recorded at admission (‘0’ Hr and after ‘48’ Hrs. of hospital stay. Aetiology of coma is determined on the basis of clinical history, examination and relevant laboratory investigations by the treating physician. These children were followed up till the death in the hospital or discharged from the hospital. Discharged patients were asked for followup after 4 weeks. During this period, all of them were evaluated by formal neurological examination and for special sensory involvement. The neurological outcomes were categorised into 6 groups (I-VI based on the severity of neurological involvement. Chisquare test was applied to determine the predictors of outcome. RESULTS 1. The incidence of non-traumatic coma in our hospital based study was 8.02% of all paediatric admissions and 21.64% of all PICU admissions. 2. CNS infections contributed the majority (58% of cases. (Dengue encephalitis-28%, viral encephalitis-12%, TB meningitis-8%, pyogenic meningitis- 6%, Shigella encephalopathy-3% and cerebral malaria-1%. 3. Other non-infectious aetiologies were toxic and metabolic group- 21%, post status epilepticus- 9

  18. The innate immune system in chronic cardiomyopathy: a European Society of Cardiology (ESC) scientific statement from the Working Group on Myocardial Function of the ESC.

    Science.gov (United States)

    Frantz, Stefan; Falcao-Pires, Ines; Balligand, Jean-Luc; Bauersachs, Johann; Brutsaert, Dirk; Ciccarelli, Michele; Dawson, Dana; de Windt, Leon J; Giacca, Mauro; Hamdani, Nazha; Hilfiker-Kleiner, Denise; Hirsch, Emilio; Leite-Moreira, Adelino; Mayr, Manuel; Thum, Thomas; Tocchetti, Carlo G; van der Velden, Jolanda; Varricchi, Gilda; Heymans, Stephane

    2018-03-01

    Activation of the immune system in heart failure (HF) has been recognized for over 20 years. Initially, experimental studies demonstrated a maladaptive role of the immune system. However, several phase III trials failed to show beneficial effects in HF with therapies directed against an immune activation. Preclinical studies today describe positive and negative effects of immune activation in HF. These different effects depend on timing and aetiology of HF. Therefore, herein we give a detailed review on immune mechanisms and their importance for the development of HF with a special focus on commonalities and differences between different forms of cardiomyopathies. The role of the immune system in ischaemic, hypertensive, diabetic, toxic, viral, genetic, peripartum, and autoimmune cardiomyopathy is discussed in depth. Overall, initial damage to the heart leads to disease specific activation of the immune system whereas in the chronic phase of HF overlapping mechanisms occur in different aetiologies. © 2018 The Authors. European Journal of Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.

  19. Serum proteome profiling in canine idiopathic dilated cardiomyopathy using TMT-based quantitative proteomics approach.

    Science.gov (United States)

    Bilić, Petra; Guillemin, Nicolas; Kovačević, Alan; Beer Ljubić, Blanka; Jović, Ines; Galan, Asier; Eckersall, Peter David; Burchmore, Richard; Mrljak, Vladimir

    2018-05-15

    Idiopathic dilated cardiomyopathy (iDCM) is a primary myocardial disorder with an unknown aetiology, characterized by reduced contractility and ventricular dilation of the left or both ventricles. Naturally occurring canine iDCM was used herein to identify serum proteomic signature of the disease compared to the healthy state, providing an insight into underlying mechanisms and revealing proteins with biomarker potential. To achieve this, we used high-throughput label-based quantitative LC-MS/MS proteomics approach and bioinformatics analysis of the in silico inferred interactome protein network created from the initial list of differential proteins. To complement the proteomic analysis, serum biochemical parameters and levels of know biomarkers of cardiac function were measured. Several proteins with biomarker potential were identified, such as inter-alpha-trypsin inhibitor heavy chain H4, microfibril-associated glycoprotein 4 and apolipoprotein A-IV, which were validated using an independent method (Western blotting) and showed high specificity and sensitivity according to the receiver operating characteristic curve analysis. Bioinformatics analysis revealed involvement of different pathways in iDCM, such as complement cascade activation, lipoprotein particles dynamics, elastic fibre formation, GPCR signalling and respiratory electron transport chain. Idiopathic dilated cardiomyopathy is a severe primary myocardial disease of unknown cause, affecting both humans and dogs. This study is a contribution to the canine heart disease research by means of proteomic and bioinformatic state of the art analyses, following similar approach in human iDCM research. Importantly, we used serum as non-invasive and easily accessible biological source of information and contributed to the scarce data on biofluid proteome research on this topic. Bioinformatics analysis revealed biological pathways modulated in canine iDCM with potential of further targeted research. Also, several

  20. Immune Deficiency Disease' of Undetermined Aetiology in Infancy

    African Journals Online (AJOL)

    1974-04-06

    Apr 6, 1974 ... J., 48, 687 (1974). Immune deficiency diseases in infancy are best known as ... tion at the age of 10 months confirmed the mental retarda- tion, and on further ... Examination of other organ systems was non-contributory. Triple .... linked recessive transmitted disease, and has not been re- ported in females.

  1. Aetiology of molar-incisor hypomineralisation (MIH) in Brazilian children.

    Science.gov (United States)

    Souza, J F; Jeremias, F; Costa-Silva, C M; Santos-Pinto, L; Zuanon, A C C; Cordeiro, R C L

    2013-06-25

    To determine the potential aetiological factors related to molar-incisor hypomineralisation (MIH) in Brazilian children. A total of 1,151 children aged 7-12 years (mean 8.86 ± 1.28), born and living in the urban area of Araraquara, Brazil, were examined by two examiners evaluating the presence of MIH according to criteria suggested by the European Academy of Paediatric Dentistry (2003). Their mothers completed a structured questionnaire about medical history, from pregnancy to the first 3 years of the children's life. Descriptive analyses of data and odds ratios (OR) with 95 % test-based confidence intervals (CI) were estimated. Chi-square test was used to evaluate the differences between groups. The prevalence of MIH in the children was 12.3 %. The interviewing response rate was 90.4 %. The prevalence of miscarriage history (25 vs. 15.4 %; OR = 1.21; 95 % CI 0.30-4.92) and occurrence of anaemia (23 vs. 12.4 %; OR = 2.07; 95 % CI 0.50-8.63) were higher in mothers from MIH group than those from non-MIH group. However, these associations were not statically significant. In the children's medical history, rhinitis, bronchitis (56.5 vs. 52.5 %; OR = 1.17; 95 % CI 0.82-1.68), and high fever (20.4 vs. 18.2 %; OR = 1.14; 0.73-1.76) were more prevalent in MIH group, but there were no significant differences between the groups (p > 0.05). No possible aetiological factor investigated was associated with MIH. Prospective studies are needed to define the aetiological factors involved with MIH.

  2. Clinical presentation, aetiology and complications of pancreatitis in children

    International Nuclear Information System (INIS)

    Fayyaz, Z.; Cheema, H.A.; Suleman, H.; Hashmi, M.A.; Parkash, A.; Waheed, N.

    2015-01-01

    Background: Childhood Pancreatitis is an uncommon but serious condition with incidence on the rise. It manifests as acute or chronic form with epigastric pain, vomiting and elevated serum -amylase and lipase. This study was conducted with the aim to determine the clinical presentation, aetiology, and complications of pancreatitis in children. Method: This descriptive case series was conducted in the Department of Paediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and the Institute of Child Health, Lahore from 1st January to 31st December 2014. Seventy-two patients up to the age of 15 years having abdominal pain, Amylase >200 IU/L and/or lipase >165 IU/L, with features of acute or chronic pancreatitis on abdominal imaging; were included in study. Data analysis was done using SPSS-20. Results: Of the total 72 patients, 43 (60 percentage) had acute pancreatitis, males were 25 (58 percentage) and females 18 (42 percentage) and chronic pancreatitis was diagnosed in 29 (40 percentage), males 10 (34 percentage) and females 19 (66 percentage). Common clinical features were abdominal pain (100 percentage), nausea and vomiting (79 percentage). Common aetiologies were idiopathic (40 percentage) while choledochal cyst 8 percentage, hyperlipidaemia 7 percentage, biliary tract stones/sludge 7 percentage and abdominal trauma 6percentage. Complications were more frequently associated with acute pancreatitis (60 percentage) than with chronic pancreatitis (34 percentage). Common complications were pseudo-pancreatic cyst (36 percentage), ascites (17 percentage) and pleural effusion (4 percentage). Conclusion: Abdominal pain, nausea and vomiting were common presenting features of childhood pancreatitis. Common aetiologies were idiopathic hyperlipidemia, biliary tract stones/sludge, choledochal cyst and abdominal trauma. Common complications were Pseudo-pancreatic cyst, ascites and pleural effusion. (author)

  3. Takotsubo cardiomyopathy in a snake bite victim: a case report ...

    African Journals Online (AJOL)

    Takotsubo cardiomyopathy occurs in patients with severe emotional or physiologic stress. The prognosis is usually favorable, and the left ventricular wall motion dyskinesis normalizes within days to weeks. In this paper we report a case of snake bite complicated by takotsubo cardiomyopathy. We advise physicians to ...

  4. Epidemiology, aetiology, diagnosis and screening of lung cancer

    International Nuclear Information System (INIS)

    Berzinec, P.

    2006-01-01

    Lung cancer is the leading cause of cancer death globally. Smoking causes about 90 % of all lung cancer cases. Passive, i.e. involuntary smoking has been confirmed to enhance the risk of lung cancer in exposed people. Individual susceptibility is one of important factors in lung cancer formation. New knowledge in epidemiology and aetiology of lung cancer gives new possibilities in diagnostic and screening of this disease. Results of large randomised trials aimed at new technologies in lung cancer screening will be available in a few years. (author)

  5. Myelitis: Differences between multiple sclerosis and other aetiologies.

    Science.gov (United States)

    Presas-Rodríguez, S; Grau-López, L; Hervás-García, J V; Massuet-Vilamajó, A; Ramo-Tello, C

    2016-03-01

    Myelitis can appear as an initial symptom in the context of demyelinating diseases, systemic inflammatory diseases, and infectious diseases. We aim to analyse the differences between myelitis associated with multiple sclerosis (MS) and myelitis resulting from other aetiologies. Single-centre, retrospective analysis of patients with initial myelitis (2000-2013). Demographic, aetiological, clinical, radiological and prognostic variables were analysed and compared between patients with myelitis from MS and those with myelitis due to other aetiologies. We included 91 patients; mean follow-up was 7 years. Diagnoses were as follows: MS 57 (63%), idiopathic transverse myelitis 22 (24%), associated systemic diseases 6 (7%), and other diagnoses (6%). Myelitis due to MS was associated with younger age of onset (35 ± 11 vs. 41 ± 13; P = .02), more pronounced sphincter involvement (40.4 vs. 27.3%; P=.05), greater multifocal involvement in spinal MRI (77.2 vs. 26.5%; P=.001), shorter lesion extension (2.4 vs. 1.4 vertebral segments; P=.001), cervical location (82.5 vs. 64.7%; P=.05) and posterior location (89.5 vs. 41.2%; P=.001). Myelitis due to other aetiologies more frequently showed anterior location (47.1 vs. 24.6%; P=.02), and central cord involvement (47.1 vs. 14.1%; P=.001), with better recovery at one year of follow up (EDSS 2.0 vs. 1.5; P=.01). Multivariate analysis showed that multifocal spinal cord involvement (OR 9.38, 95% CI: 2.04-43.1) and posterior cord involvement (OR 2.16, 95% CI: 2.04-2.67) were independently associated with the diagnosis of MS. A high percentage of patients with an initial myelitis event will be diagnosed with MS. The presence of multifocal and posterior spinal cord lesions was significantly associated with the diagnosis of MS. Copyright © 2015 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

  6. Painful bladder syndrome/interstitial cystitis: Aetiology, evaluation and management

    Directory of Open Access Journals (Sweden)

    William Rourke

    2014-06-01

    Full Text Available Interstitial cystitis or bladder pain syndrome (BPS is often a chronic debilitating condition characterised by predominantly storage symptoms and associated frequently with pelvic pain that varies with bladder filling. The aetiology is uncertain as the condition occurs in the absence of a urinary tract infection or other obvious pathology. Resulting discomfort may vary and ranges from abdominal tenderness to intense bladder spasms. Diagnosis and management of this syndrome may be difficult and is often made by its typical cystoscopic features. This review discusses the diagnosis and management of interstitial cystitis according to the current available best evidence and advises a multimodal approach in its management.

  7. [The psychosomatics of chronic back pain. Classification, aetiology and therapy].

    Science.gov (United States)

    Henningsen, P

    2004-05-01

    An overview is given on the current classification, description and treatment of chronic pain with causally relevant psychological factors. It is based on the "practice guidelines on somatoform disorders" and on a thematically related meta-analysis. The classificatory problems, especially of the demarcation of somatoform and other chronic pain, are presented. Additional descriptive dimensions of the relevant psychosocial factors are: pain description, other organically unexplained pain- and non-pain-symptoms, anxiety and depression, disease conviction and illness behaviour, personality and childhood abuse. A modified psychotherapy for (somatoform) chronic pain is outlined. Finally, this aetiologically oriented psychosomatic-psychiatric approach is compared to psychological coping models for chronic pain.

  8. Cushing’s Disease Presented by Reversible Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Berna İmge Aydoğan

    2015-01-01

    Full Text Available Introduction. Dilated cardiomyopathy is rarely reported among CS patients especially without hypertension and left ventricular hypertrophy. Materials and Methods. We hereby report a Cushing’s syndrome case presenting with dilated cardiomyopathy. Results. A 48-year-old female patient was admitted to our clinic with severe proximal myopathy and dilated cardiomyopathy without ventricular hypertrophy. Cushing’s disease was diagnosed and magnetic-resonance imaging of the pituitary gland revealed a microadenoma. Under diuretic and ketoconazole treatments, she underwent a successful transnasal/transsphenoidal adenomectomy procedure. Full recovery of symptoms and echocardiographic features was achieved after six months of surgery. Conclusion. Cushing’s syndrome must be kept in mind as a reversible cause of dilated cardiomyopathy. Recovery of cardiomyopathy is achieved with successful surgery.

  9. Radiology and pathology correlation in common infiltrative cardiomyopathies

    International Nuclear Information System (INIS)

    Varzeshi, Neda; Hansen, Mark; Rezaee, Amir; Slaughter, Richard; Dixon, Natalie; Duhig, Edwina

    2012-01-01

    Infiltrative cardiomyopathies generally pose a diagnostic dilemma as current diagnostic tools are imprecise. Invasive endomyocardial biopsy is considered as the gold standard however it has some limitations. Recently cardiovascular magnetic resonance (CMR) is emerging as an excellent technique in diagnosing infiltrative cardiomyopathies and is increasingly being used. Characteristic pathologic and radiologic findings in most common infiltrative cardiomyopathies (amyloid, sarcoid and Fabry's) are discussed and correlated with relative CMR and histologic examples. There is fairly good correlation between the non-invasive radiologic and the invasive histologic findings in common infiltrative cardiomyopathies. Non-invasive CMR with its high sensitivity and specificity has an excellent role in establishing the diagnosis and improving the prognosis of common infiltrative cardiomyopathies.

  10. Takotsubo Cardiomyopathy Associated with Thyrotoxicosis: A Case Report and Review of the Literature

    OpenAIRE

    Eliades, Myrto; El-Maouche, Diala; Choudhary, Chitra; Zinsmeister, Bruce; Burman, Kenneth D.

    2014-01-01

    Background: Takotsubo or stress-induced cardiomyopathy is a form of reversible cardiomyopathy commonly associated with emotional or physical stress. Thyrotoxicosis has been identified as a rare cause of Takotsubo cardiomyopathy, with only 12 cases reported in the literature. Here, we report a case of thyroid storm presenting with Takotsubo cardiomyopathy in the setting of Graves' disease.

  11. Basal wall hypercontraction of Takotsubo cardiomyopathy in a patient who had been diagnosed with dilated cardiomyopathy: a case report.

    Science.gov (United States)

    Ichihara, Noboru; Fujita, Shuichi; Kanzaki, Yumiko; Fujisaka, Tomohiro; Ozeki, Michishige; Ishizaka, Nobukazu

    2017-12-12

    Takotsubo cardiomyopathy is characterized by the basal hypercontractility and apical ballooning of the left ventriculum and T-wave inversion in the electrocardiogram. It has been suggested that Takotsubo cardiomyopathy might underlie the pathogenesis of persistent cardiac dysfunction; however, few reports are present demonstrating the advent of Takotsubo cardiomyopathy in patients with idiopathic cardiomyopathy. A 64-year-old women was admitted due to dyspnea on effort and lower extremity edema. She had been diagnosed with idiopathic dilated cardiomyopathy 2.5 years before owing to the reduced left ventricular ejection fraction (24%), normal coronary artery, and interstitial fibrosis of the myocardial samples. On admission, her electrocardiogram showed giant negative T wave in II, III, aVF, and precordial leads. Echocardiography showed dyskinesis of the left ventricular apex and hypercontraction of the basal wall, which had not been observed in the previous examinations. Coronary angiography showed normal coronary arteries, and apical ballooning and basal hypercontractility was confirmed by left ventriculography. On day 15 of admission, contraction of apical wall was recovered, and basal hypercontraction was disappeared. The present case is the first report demonstrating appearance the transient basal wall hypercontraction along with the advent of Takotsubo cardiomyopathy in a patient diagnosed with dilated cardiomyopathy. Whether such findings are indicative of fair prognosis and have the utility of understanding the pathogenesis of dilated cardiomyopathy needs further investigation.

  12. Aetiology and management of malnutrition in HIV-positive children.

    Science.gov (United States)

    Rose, Anna M; Hall, Charles S; Martinez-Alier, Nuria

    2014-06-01

    Worldwide, more than 3 million children are infected with HIV and, without treatment, mortality among these children is extremely high. Both acute and chronic malnutrition are major problems for HIV-positive children living in resource-limited settings. Malnutrition on a background of HIV represents a separate clinical entity, with unique medical and social aetiological factors. Children with HIV have a higher daily calorie requirement than HIV-negative peers and also a higher requirement for micronutrients; furthermore, coinfection and chronic diarrhoea due to HIV enteropathy play a major role in HIV-associated malnutrition. Contributory factors include late presentation to medical services, unavailability of antiretroviral therapy, other issues surrounding healthcare provision and food insecurity in HIV-positive households. Treatment protocols for malnutrition have been greatly improved, yet there remains a discrepancy in mortality between HIV-positive and HIV-negative children. In this review, the aetiology, prevention and treatment of malnutrition in HIV-positive children are examined, with particular focus on resource-limited settings where this problem is most prevalent. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  13. CLINICO-AETIOLOGICAL STUDY OF LOWER MOTOR NEURON FACIAL PALSY

    Directory of Open Access Journals (Sweden)

    Souvagini Acharya

    2017-05-01

    Full Text Available BACKGROUND The facial nerve paralysis is a broad term having so many differential diagnoses starting from congenital causes to malignant tumour. Accurate diagnosis with localisation of the site of injury or compression and timely intervention has become a challenge to an otorhinolaryngologist. Objective- To outline the incidence of the different aetiologies and the profile of peripheral facial nerve paralysis patients in the Otolaryngology Dept. of ENT in VIMSAR, Burla. MATERIALS AND METHODS The records of 53 patients with facial nerve paralysis seen during the years of 2016 & 2017 were analysed. RESULTS From the 53 patients analysed, 60.4% were male, maximum cases 35.85% were in 3 rd decade of age and had the right side of the face involved in 62.26%. Bell´s palsy was the most frequent aetiology (66.04%, others are traumatic (11.32%, Ramsay Hunt syndrome (1.89%, CSOM (16.98%, malignant otitis externa (1.89%. One case of Bell´s palsy during pregnancy was also seen in this series. CONCLUSION The data found are similar to the most of the literature showing that Bell´s palsy is still the most frequent. Males are more commonly affected with a preponderance to involve right side of face.

  14. Fabry Disease in Families With Hypertrophic Cardiomyopathy

    DEFF Research Database (Denmark)

    Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J

    2017-01-01

    BACKGROUND: The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B...... asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations...

  15. Genetics of Human and Canine Dilated Cardiomyopathy

    OpenAIRE

    Siobhan Simpson; Jennifer Edwards; Thomas F. N. Ferguson-Mignan; Malcolm Cobb; Nigel P. Mongan; Catrin S. Rutland

    2015-01-01

    Cardiovascular disease is a leading cause of death in both humans and dogs. Dilated cardiomyopathy (DCM) accounts for a large number of these cases, reported to be the third most common form of cardiac disease in humans and the second most common in dogs. In human studies of DCM there are more than 50 genetic loci associated with the disease. Despite canine DCM having similar disease progression to human DCM studies into the genetic basis of canine DCM lag far behind those of human DCM. In th...

  16. Triple products of Eisenstein series

    Science.gov (United States)

    Venkatesh, Anil

    In this thesis, we construct a Massey triple product on the Deligne cohomology of the modular curve with coefficients in symmetric powers of the standard representation of the modular group. This result is obtained by constructing a Massey triple product on the extension groups in the category of admissible variations of mixed Hodge structure over the modular curve, which induces the desired construction on Deligne cohomology. The result extends Brown's construction of the cup product on Deligne cohomology to a higher cohomological product. Massey triple products on Deligne cohomology have been previously investigated by Deninger, who considered Deligne cohomology with trivial real coefficients. By working over the reals, Deninger was able to compute cohomology exclusively with differential forms. In this work, Deligne cohomology is studied over the rationals, which introduces an obstruction to applying Deninger's results. The obstruction arises from the fact that the integration map from the de Rham complex to the Eilenberg-MacLane complex of the modular group is not an algebra homomorphism. We compute the correction terms of the integration map as regularized iterated integrals of Eisenstein series, and show that these integrals arise in the cup product and Massey triple product on Deligne cohomology.

  17. Solution Patterns Predicting Pythagorean Triples

    Science.gov (United States)

    Ezenweani, Ugwunna Louis

    2013-01-01

    Pythagoras Theorem is an old mathematical treatise that has traversed the school curricula from secondary to tertiary levels. The patterns it produced are quite interesting that many researchers have tried to generate a kind of predictive approach to identifying triples. Two attempts, namely Diophantine equation and Brahmagupta trapezium presented…

  18. The Centroid of a Lie Triple Algebra

    Directory of Open Access Journals (Sweden)

    Xiaohong Liu

    2013-01-01

    Full Text Available General results on the centroids of Lie triple algebras are developed. Centroids of the tensor product of a Lie triple algebra and a unitary commutative associative algebra are studied. Furthermore, the centroid of the tensor product of a simple Lie triple algebra and a polynomial ring is completely determined.

  19. The co-occurrence of multiple sclerosis and type 1 diabetes: shared aetiologic features and clinical implication for MS aetiology.

    Science.gov (United States)

    Tettey, Prudence; Simpson, Steve; Taylor, Bruce V; van der Mei, Ingrid A F

    2015-01-15

    We reviewed the evidence for the co-occurrence of type 1 diabetes mellitus (T1D) and multiple sclerosis (MS), and assessed the clinical significance of this association and the shared aetiological features of the two diseases. T1D and MS contribute considerably to the burden of autoimmune diseases in young adults. The co-occurrence of MS and T1D has been reported by a number of studies, suggesting that the two conditions share one or more aetiological components. Both conditions have been associated with distinct human leukocyte antigen (HLA) haplotypes but share a number of similarities in clinical, epidemiological and immunological features, leading to suggestions of possible common mechanisms of development. While underlying genetic factors may be important for the co-occurrence of both conditions, some evidence suggests that environmental factors such as vitamin D deficiency may also modulate an individual's risk for the development of both conditions. Evidence on whether the co-occurrence of the two autoimmune conditions will affect the disease course and severity of MS is merely absent. Further studies need to be conducted to ascertain whether the neuropathology associated with T1D might influence the disease course and contribute to the severity of MS. Copyright © 2014 Elsevier B.V. All rights reserved.

  20. Characterization of phosphorus metabolism in dilated cardiomyopathy

    International Nuclear Information System (INIS)

    Auffermann, W.; Chew, W.; Tavares, N.J.; Donnelly, T.; Parmley, W.W.; Chatterjee, K.; Wolfe, C.; Higgins, C.B.

    1988-01-01

    Five patients with dilated cardiomyopathy (ejection fraction, ∼25%) and six normal volunteers were studied with localized, gated P-31 MR spectroscopy at 1.5 T. The typical peaks of adenogine triphosphate (ATP[, phosphocreatine (PCr), phosphodiesters (PD), and peaks attributable to 2,3 diphosphoglycerate, inorganic phosphate, and phosphomonoesters were identified and the areas under each peak numerically integrated after baseline correction. PCr/β-ATP was not significantly lower (1.42 +- 0.06 vs 1.54 +- 0.04), but PD/PCr (1.1 +- 0.02 vs 0.6 +- 0.1) (P ≤ .01) and PD/β-ATP (1.50 +- 0.04 vs 0.97 +- 0.17) (P ≤ .05) were significantly higher in patients with dilated cardiomyopathy compared with normal volunteers. Thus, localized, gated P-31 MR spectroscopy in cardiomyopathic patients identifies abnormal myocardial phosphorus metabolism, which might become useful to monitor noninvasively the response to positive inotropic therapy

  1. The Mutations Associated with Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Ruti Parvari

    2012-01-01

    Full Text Available Cardiomyopathy is an important cause of heart failure and a major indication for heart transplantation in children and adults. This paper describes the state of the genetic knowledge of dilated cardiomyopathy (DCM. The identification of the causing mutation is important since presymptomatic interventions of DCM have proven value in preventing morbidity and mortality. Additionally, as in general in genetic studies, the identification of the mutated genes has a direct clinical impact for the families and population involved. Identifying causative mutations immediately amplifies the possibilities for disease prevention through carrier screening and prenatal testing. This often lifts a burden of social isolation from affected families, since healthy family members can be assured of having healthy children. Identification of the mutated genes holds the potential to lead to the understanding of disease etiology, pathophysiology, and therefore potential therapy. This paper presents the genetic variations, or disease-causing mutations, contributing to the pathogenesis of hereditary DCM, and tries to relate these to the functions of the mutated genes.

  2. Genetic Variation in Cardiomyopathy and Cardiovascular Disorders.

    Science.gov (United States)

    McNally, Elizabeth M; Puckelwartz, Megan J

    2015-01-01

    With the wider deployment of massively-parallel, next-generation sequencing, it is now possible to survey human genome data for research and clinical purposes. The reduced cost of producing short-read sequencing has now shifted the burden to data analysis. Analysis of genome sequencing remains challenged by the complexity of the human genome, including redundancy and the repetitive nature of genome elements and the large amount of variation in individual genomes. Public databases of human genome sequences greatly facilitate interpretation of common and rare genetic variation, although linking database sequence information to detailed clinical information is limited by privacy and practical issues. Genetic variation is a rich source of knowledge for cardiovascular disease because many, if not all, cardiovascular disorders are highly heritable. The role of rare genetic variation in predicting risk and complications of cardiovascular diseases has been well established for hypertrophic and dilated cardiomyopathy, where the number of genes that are linked to these disorders is growing. Bolstered by family data, where genetic variants segregate with disease, rare variation can be linked to specific genetic variation that offers profound diagnostic information. Understanding genetic variation in cardiomyopathy is likely to help stratify forms of heart failure and guide therapy. Ultimately, genetic variation may be amenable to gene correction and gene editing strategies.

  3. Dilated congestive cardiomyopathy in Doberman pinschers

    International Nuclear Information System (INIS)

    Calvert, C.A.

    1986-01-01

    Dilated cardiomyopathy of Doberman Pinschers (DCDP) is a progressive disease often presenting with a history of episodic weakness and syncope, or with clinical signs of predominantly left-sided congestive heart failure. A systematic dissection and histomorphologic evaluation of the heart from 32 Doberman Pinschers with a clinical diagnosis of dilated cardiomyopathy revealed a highly specific location for the characteristic myocardial lesions. The lesions of DCDP were found only in the left ventricular free wall, and in 30 cases, the lesions were characterized by myofiber degeneration and atrophy, and replacement of myocardium by dense bundles of collagen and clusters of adipocytes. In the two remaining hearts, myofiber atrophy and degeneration were accompanied by collagen deposition, but not adipocytes. In stained longitudinal (base to apex) tissue sections of the left ventricle, the lesions of DCDP were usually apparent to the unaided eye; appearing as a central linear pale zone, aligned in the long axis of the ventricular free wall. The lesions did not contain inflammatory cell infiltrates and often involved >50% of ventricular wall

  4. The Medical Treatment of New-Onset Peripartum Cardiomyopathy: A Systematic Review of Prospective Studies.

    Science.gov (United States)

    Desplantie, Olivier; Tremblay-Gravel, Maxime; Avram, Robert; Marquis-Gravel, Guillaume; Ducharme, Anique; Jolicoeur, E Marc

    2015-12-01

    Peripartum cardiomyopathy (PPCM) is a rare disorder with potentially fatal consequences, which occurs mainly in previously healthy women. The aetiology of PPCM remains unknown and various pathologic mechanisms have been proposed, including immune-mediated injuries and impaired response to oxidative stress and inflammatory cytokines. Several therapies have been studied, but few have been validated in a well-designed randomized controlled trial. In the present study we sought to review the medical treatment intended for acute PPCM. To this end, we performed a systematic review of the literature of randomized and nonrandomized prospective clinical studies. We identified 2 randomized controlled trials that evaluated the dopamine agonist bromocriptine and the inotrope levosimendan, respectively, and 1 nonrandomized study that evaluated the nonselective phosphodiesterase inhibitor pentoxifylline. We reviewed the pathophysiological, pharmacological, and clinical properties for each treatment option identified. Bromocriptine and pentoxifylline both improved left ventricular systolic function and patient-oriented clinical end points and levosimendan did not improve mortality or echocardiographic findings of PPCM. In this review we identified bromocriptine and pentoxifylline, but not levosimendan, as potentially useful agents to improve left ventricle function and outcomes in PPCM. Copyright © 2015 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  5. Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies.

    Science.gov (United States)

    Calcagni, Giulio; Adorisio, Rachele; Martinelli, Simone; Grutter, Giorgia; Baban, Anwar; Versacci, Paolo; Digilio, Maria Cristina; Drago, Fabrizio; Gelb, Bruce D; Tartaglia, Marco; Marino, Bruno

    2018-04-01

    RASopathies are a heterogeneous group of genetic syndromes characterized by mutations in genes that regulate cellular processes, including proliferation, differentiation, survival, migration, and metabolism. Excluding congenital heart defects, hypertrophic cardiomyopathy is the most frequent cardiovascular defect in patients affected by RASopathies. A worse outcome (in terms of surgical risk and/or mortality) has been described in a specific subset of Rasopathy patients with early onset, severe hypertrophic cardiomyopathy presenting with heart failure. New short-term therapy with a mammalian target of rapamycin inhibitor has recently been used to prevent heart failure in these patients with a severe form of hypertrophic cardiomyopathy. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. Takotsubo Cardiomyopathy in Intensive Care Unit: Prevention, Diagnosis and Management

    Directory of Open Access Journals (Sweden)

    Hannah Masoud

    2016-01-01

    Full Text Available Accurate diagnosis of Takotsubo Cardiomyopathy has substantial prognostic implications in an intensive care unit, given its increased mortality risk and association with life-threatening complications. This report seeks to discuss diagnostic modalities that can be useful in accurately differentiating Takotsubo Cardiomyopathy from Acute Coronary Syndrome, and also briefly discuss prevention and management of this cardiomyopathy in an intensive care unit. For critically ill Takotsubo patients, intensive clinicians can consider establishment of diagnosis by specific electrocardiograph changes, distinctive marked release of cardiac enzymes, characteristic echocardiograph findings, as well as invasive coronary angiography or noninvasive cardiac magnetic imaging.

  7. Acute peritonitis as the first presentation of valvular cardiomyopathy.

    LENUS (Irish Health Repository)

    Higgins, Nikki

    2012-02-01

    Valvular cardiomyopathy can present a diagnostic challenge in the absence of overt cardiac symptoms. This report describes the case of a 46-year-old woman who presented with acute peritonitis associated with vomiting and abdominal distension. Subsequent abdominal computed tomography and ultrasound revealed bibasal pleural effusions, ascites, and normal ovaries. An echocardiogram revealed that all cardiac chambers were dilated with a global decrease in contractility and severe mitral, tricuspid, and aortic regurgitation. A diagnosis of cardiomyopathy with acute heart failure, secondary to valvular heart disease, was secured. Acute peritonitis as the presenting feature of valvular cardiomyopathy is a rare clinical entity.

  8. Reversible catecholamine-induced cardiomyopathy due to pheochromocytoma: case report.

    Science.gov (United States)

    Satendra, Milan; de Jesus, Cláudia; Bordalo e Sá, Armando L; Rosário, Luís; Rocha, José; Bicha Castelo, Henrique; Correia, Maria José; Nunes Diogo, António

    2014-03-01

    Pheochromocytoma is a tumor originating from chromaffin tissue. It commonly presents with symptoms and signs of catecholamine excess, such as hypertension, tachycardia, headache and sweating. Cardiovascular manifestations include catecholamine-induced cardiomyopathy, which may present as severe left ventricular dysfunction and congestive heart failure. We report a case of pheochromocytoma which was diagnosed following investigation of dilated cardiomyopathy. We highlight the dramatic symptomatic improvement and reversal of cardiomyopathy, with recovery of left ventricular function after treatment. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  9. Bovine pododermatitis aseptica diffusa (laminitis) aetiology, pathogenesis, treatment and control.

    Science.gov (United States)

    Mgasa, M N

    1987-01-01

    Pododermatitis aseptica diffusa (laminitis) is a major cause of lameness and discomfort to cattle with resultant economic losses. The disease is a result of multifactorial aetiology most of which is not clearly understood. Feeding readily fermentable carbohydrates to unaccustomed cattle predisposes to the disease. Histamine, lactic acid and endotoxins are believed to be involved. Systemic acidosis, histaminosis and endotoxaemia are thought to produce the pathophysiological characteristics of laminitis. The diagnosis is primarily based on the observation of symmetrical and bilateral lesions in hooves and characteristic lameness affecting all feet. Gross lesions include concavity of the dorsal wall, discolorations in the sole and rotation of the pedal bone. Degenerative changes and arteriosclerosis are constant histological findings in the corium, with chronic thrombi and chronic granulation tissue. The disease may be treated conservatively and by application of cyclo-oxygenase inhibiting non-steroidal anti-inflammatory drugs and prevented or controlled by proper feeding and management practices.

  10. Villitis of unknown aetiology: correlation of recurrence with clinical outcome.

    LENUS (Irish Health Repository)

    Feeley, L

    2010-01-01

    Villitis of unknown aetiology (VUA) is associated with adverse pregnancy outcome. Consequently, an ability to predict recurrence could be clinically relevant. We examined placentas where villitis was diagnosed in a previous pregnancy to establish the risk of recurrence and outcome. A total of 304 cases of VUA were diagnosed in our laboratory over a 4-year period. Subsequently, 19 of this cohort had a second placenta examined histologically. Recurrence and clinical outcome were recorded. Villitis recurred in 7 of 19 cases (37%). There was a high level of adverse pregnancy outcome in this cohort overall, characterised by small for gestational age infants and stillbirth, particularly in cases with high-grade villitis. We identified recurrent villitis more frequently than previously reported. Our findings confirm an association between high-grade villitis and poor outcome. Adequately powered prospective studies are required to determine if enhanced surveillance of subsequent pregnancies is indicated following a diagnosis of villitis.

  11. Levels of uric acid in erectile dysfunction of different aetiology.

    Science.gov (United States)

    Barassi, Alessandra; Corsi Romanelli, Massimiliano Marco; Pezzilli, Raffaele; Dozio, Elena; Damele, Clara Anna Linda; Vaccalluzzo, Liborio; Di Dario, Marco; Goi, Giancarlo; Papini, Nadia; Massaccesi, Luca; Colpi, Giovanni Maria; Melzi d'Eril, Gian Vico

    2018-01-12

    Erectile dysfunction is a common disease characterized by endothelial dysfunction. The aetiology of ED is often multifactorial but evidence is being accumulated in favor of the proper function of the vascular endothelium that is essential to achieving and maintaining penile erection. Uric acid itself causes endothelial dysfunction via decreased nitric oxide production. This study aims to evaluate the serum uric acid (SUA) levels in 180 ED patients, diagnosed with the International Index of Erectile Function-5 (IIEF-5) and 30 non-ED control. Serum uric acid was analyzed with a commercially available kit using ModularEVO (Roche, Monza, Italy). Within-assay and between-assay variations were 3.0% and 6.0%, respectively. Out of the ED patients, 85 were classified as arteriogenic (A-ED) and 95 as non-arteriogenic (NA-ED) with penile-echo-color-Doppler. Uric acid levels (median and range in mg/dL) in A-ED patients (5.8, 4.3-7.5) were significantly higher (p uric acid levels in patients with mild A-ED (IIEF-5 16-20) and severe/complete A-ED (IIEF-5 ≤ 10) that were 5.4 (range 4.3-6.5) mg/dL and 6.8 (range 6.4-7.2) mg/dL, respectively. There was no difference between the levels of uric acid in patients with different degree of NA-ED. Our findings reveal that SUA is a marker of ED but only of ED of arteriogenic aetiology.

  12. Aetiological diagnosis of male sex ambiguity: a collaborative study.

    Science.gov (United States)

    Morel, Yves; Rey, Rodolfo; Teinturier, Cécile; Nicolino, Marc; Michel-Calemard, Laurence; Mowszowicz, Irène; Jaubert, Francis; Fellous, Marc; Chaussain, Jean-Louis; Chatelain, Pierre; David, Michel; Nihoul-Fékété, Claire; Forest, Maguelone G; Josso, Nathalie

    2002-01-01

    A collaborative study, supported by the Biomed2 Programme of the European Community, was initiated to optimise the aetiological diagnosis in genetic or gonadal males with intersex disorders, a total of 67 patients with external sexual ambiguity, testicular tissue and/or a XY karyotype. In patients with gonadal dysgenesis or true hermaphroditism, the incidence of vaginal development was 100%, a uterus was present in 60%; uni or bilateral cryptorchidism was seen in nearly all cases of testicular dysgenesis (99%) but in only 57% of true hermaphrodites. Mean serum levels of anti-mullerian hormone and of serum testosterone response to chorionic gonadotropin stimulation were significantly decreased in both conditions, by comparison with patients with unexplained male pseudohermaphroditism or partial androgen insensitivity (PAIS). Mutations in the androgen receptor, 90% within exons 2-8, were detected in patients with PAIS. Clinically, a vaginal pouch was present in 90%, cryptorchidism in 36%. In 52% of cases, no diagnosis could be reached, despite an exhaustive clinical and laboratory work-up, including routine sequencing of exons 2-8 of the androgen receptor. By comparison with PAIS, unexplained male pseudohermaphroditism was characterised by a lower incidence of vaginal pouch (55%) and cryptorchidism (22%) but a high incidence of prematurity/intrauterine growth retardation (30%) or mild malformations (14%). reaching an aetiological diagnosis in cases of male intersex is difficult because of the variability of individual cases. Hormonal tests may help to discriminate between partial androgen insensitivity and gonadal dysgenesis/true hermaphroditism but are of less use for differentiating from unexplained male pseudohermaphroditism. Sequencing of exons 2-8 of the androgen receptor after study of testosterone precursors following human chorionic gonadotrophin stimulation is recommended when gonadal dysgenesis and true hermaphroditism can be excluded.

  13. Modal planes are spectral triples

    International Nuclear Information System (INIS)

    Gayral, Victor; Iochum, Bruno; Schuecker, Thomas; Gracia-Bondia, Jose M.; Varilly, Joseph C.

    2003-09-01

    Axioms for nonunital spectral triples, extending those introduced in the unital case by Connes, are proposed. As a guide, and for the sake of their importance in noncommutative quantum field theory, the spaces R 2N endowed with Moyal products are intensively investigated. Some physical applications, such as the construction of noncommutative Wick monomials and the computation of the Connes-Lott functional action, are given for these noncommutative hyperplanes. (author)

  14. Short article: Presence, extent and location of pancreatic necrosis are independent of aetiology in acute pancreatitis.

    Science.gov (United States)

    Verdonk, Robert C; Sternby, Hanna; Dimova, Alexandra; Ignatavicius, Povilas; Koiva, Peter; Penttila, Anne K; Ilzarbe, Lucas; Regner, Sara; Rosendahl, Jonas; Bollen, Thomas L

    2018-03-01

    The most common aetiologies of acute pancreatitis (AP) are gallstones, alcohol and idiopathic. The impact of the aetiology of AP on the extent and morphology of pancreatic and extrapancreatic necrosis (EXPN) has not been clearly established. The aim of the present study was to assess the influence of aetiology on the presence and location of pancreatic necrosis in patients with AP. We carried out a post-hoc analysis of a previously established multicentre cohort of patients with AP in whom a computed tomography was available for review. Clinical data were obtained from the medical records. All computed tomographies were revised by the same expert radiologist. The impact of aetiology on pancreatic and EXPN was calculated. In total, 159 patients with necrotizing pancreatitis were identified from a cohort of 285 patients. The most frequent aetiologies were biliary (105 patients, 37%), followed by alcohol (102 patients, 36%) and other aetiologies including idiopathic (78 patients, 27%). No relationship was found between the aetiology and the presence of pancreatic necrosis, EXPN, location of pancreatic necrosis or presence of collections. We found no association between the aetiology of AP and the presence, extent and anatomical location of pancreatic necrosis.

  15. Genetics Home Reference: X-linked dilated cardiomyopathy

    Science.gov (United States)

    ... The other conditions in the spectrum, Duchenne and Becker muscular dystrophy , are characterized by progressive weakness and wasting of ... linked dilated cardiomyopathy is sometimes classified as subclinical Becker muscular dystrophy. Related Information What does it mean if a ...

  16. Genetics Home Reference: early-onset myopathy with fatal cardiomyopathy

    Science.gov (United States)

    ... in childhood, people with EOMFC may also develop joint deformities called contractures that restrict the movement of ... Home Edition for Patients and Caregivers: Dilated Cardiomyopathy Neuromuscular Disease Center, Washington University Orphanet: Early-onset myopathy ...

  17. Psychological distress and personality factors in takotsubo cardiomyopathy

    NARCIS (Netherlands)

    Smeijers, L; Szabó, B M; Kop, W J

    2016-01-01

    Background Takotsubo cardiomyopathy (TCC) is a transient condition characterised by severe left ventricular dysfunction combined with symptoms and signs mimicking myocardial infarction. Emotional triggers are common, but little is known about the psychological background characteristics of TCC. This

  18. Application of Echocardiography on Transgenic Mice with Cardiomyopathies

    Directory of Open Access Journals (Sweden)

    G. Chen

    2012-01-01

    Full Text Available Cardiomyopathies are common cardiac disorders that primarily affect cardiac muscle resulting in cardiac dysfunction and heart failure. Transgenic mouse disease models have been developed to investigate the cellular mechanisms underlying heart failure and sudden cardiac death observed in cardiomyopathy cases and to explore the therapeutic outcomes in experimental animals in vivo. Echocardiography is an essential diagnostic tool for accurate and noninvasive assessment of cardiac structure and function in experimental animals. Our laboratory has been among the first to apply high-frequency research echocardiography on transgenic mice with cardiomyopathies. In this work, we have summarized our and other studies on assessment of systolic and diastolic dysfunction using conventional echocardiography, pulsed Doppler, and tissue Doppler imaging in transgenic mice with various cardiomyopathies. Estimation of embryonic mouse hearts has been performed as well using this high-resolution echocardiography. Some technical considerations in mouse echocardiography have also been discussed.

  19. Dynamic electrocardiographic changes in patients with arrhythmogenic right ventricular cardiomyopathy.

    LENUS (Irish Health Repository)

    Quarta, Giovanni

    2010-04-01

    Electrocardiographic (ECG) abnormalities of depolarisation and repolarisation contribute to the diagnostic criteria for arrhythmogenic right ventricular cardiomyopathy (ARVC). The development of diagnostic ECG features were investigated in a genotyped cohort with ARVC to provide more sensitive markers of early disease.

  20. Cardiomyopathies in Noonan syndrome and the other RASopathies

    Science.gov (United States)

    Gelb, Bruce D.; Roberts, Amy E.; Tartaglia, Marco

    2015-01-01

    Noonan syndrome and related disorders (Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with loose anagen hair, and other related traits) are autosomal dominant traits. Mutations causing these disorders alter proteins relevant for signaling through RAS. Thus, these traits are now collectively called the RASopathies. While the RASopathies have pleiomorphic features, this review will focus on the hypertrophic cardiomyopathy observed in varying percentages of all of these traits. In addition, inherited abnormalities in one pathway gene, RAF1, cause pediatric-onset dilated cardiomyopathy. The pathogeneses for the RASopathy-associated cardiomyopathies are being elucidated, principally using animal models, leading to genotype-specific insights into how signal transduction is perturbed. Based on those findings, small molecule therapies seem possible for RASopathy-associated cardiomyopathies. PMID:26380542

  1. Possible X linked congenital mitochondrial cardiomyopathy in three families.

    OpenAIRE

    Orstavik, K H; Skjörten, F; Hellebostad, M; Hågå, P; Langslet, A

    1993-01-01

    Familial cases of childhood congestive cardiomyopathy with X linked recessive inheritance and abnormalities of heart muscle mitochondria have been previously reported. We report here three families with possible X linked congestive cardiomyopathy and specific mitochondrial abnormalities. The heart disorder presented as endocardial fibroelastosis with neonatal death in two brothers in one family, and as heart failure and death in infancy in two brothers in the other two families. In one family...

  2. Hypertrophic cardiomyopathy with mid-ventricular obstruction and apical aneurysm

    Directory of Open Access Journals (Sweden)

    N.D. Oryshchyn

    2016-11-01

    Full Text Available A case report of apical left ventricular aneurysm in patient with hypertrophic cardiomyopathy with mid-ventricular obstruction (diagnosis and surgical treatment is presented. We revealed apical aneurysm and mid-ventricular obstruction during echocardiography and specified anatomical characteristics of aneurysm during computer tomography. There was no evidence of obstructive coronary artery disease during coronary angiography. Taking into consideration multiple cerebral infarcts, aneurysm resection and left ventricular plastics was performed. Electronic microscopy of myocardium confirmed the diagnosis of hypertrophic cardiomyopathy.

  3. Embryonic Stem Cell Therapy of Heart Failure in Genetic Cardiomyopathy

    OpenAIRE

    Yamada, Satsuki; Nelson, Timothy J.; Crespo-Diaz, Ruben J.; Perez-Terzic, Carmen; Liu, Xiao-Ke; Miki, Takashi; Seino, Susumu; Behfar, Atta; Terzic, Andre

    2008-01-01

    Pathogenic causes underlying nonischemic cardiomyopathies are increasingly being resolved, yet repair therapies for these commonly heritable forms of heart failure are lacking. A case in point is human dilated cardiomyopathy 10 (CMD10; Online Mendelian Inheritance in Man #608569), a progressive organ dysfunction syndrome refractory to conventional therapies and linked to mutations in cardiac ATP-sensitive K+ (KATP) channel sub-units. Embryonic stem cell therapy demonstrates benefit in ischemi...

  4. Sepsis-Induced Cardiomyopathy: Mechanisms and Treatments

    Directory of Open Access Journals (Sweden)

    Yan-Cun Liu

    2017-08-01

    Full Text Available Sepsis is a lethal syndrome with a high incidence and a weighty economy burden. The pathophysiology of sepsis includes inflammation, immune dysfunction, and dysfunction of coagulation, while sepsis-induced cardiomyopathy (SIC, defined as a global but reversible dysfunction of both sides of the heart induced by sepsis, plays a significant role in all of the aspects above in the pathogenesis of sepsis. The complex pathogenesis of SIC involves a combination of dysregulation of inflammatory mediators, mitochondrial dysfunction, oxidative stress, disorder of calcium regulation, autonomic nervous system dysregulation, and endothelial dysfunction. The treatments for SIC include the signal pathway intervention, Chinese traditional medicine, and other specific therapy. Here, we reviewed the latest literatures on the mechanisms and treatments of SIC and hope to provide further insights to researchers and create a new road for the therapy of sepsis.

  5. Pregnancy and Cardiomyopathy After Anthracyclines in Childhood

    Directory of Open Access Journals (Sweden)

    Kara Annette Thompson

    2018-03-01

    Full Text Available With advances in cancer therapy, there has been a remarkable increase in survival in children diagnosed with malignancies. Many of these children are treated with anthracyclines which are well known to cause cardiotoxicity. As more childhood cancer survivors reach childbearing age, many will choose to become pregnant. At this time, the factors associated with development of cardiomyopathy after anthracycline treatment are not clearly identified. It is possible that cardiac stress could predispose to cardiac deterioration in a patient with reduced functional reserve from prior anthracycline exposure. Pregnancy is one form of cardiovascular stress. The cardiac outcomes of pregnancy in childhood cancer survivors must be considered. In view of limited data, guidelines for pregnancy planning, management, and monitoring after cardiotoxic cancer therapy have not been established. This review summarizes the limited data available on the topic of pregnancy after anthracyclines in childhood.

  6. Multifactorial QT Interval Prolongation and Takotsubo Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Michael Gysel

    2014-01-01

    Full Text Available A 71-year-old woman collapsed while working as a grocery store cashier. CPR was performed and an AED revealed torsades de pointes (TdP. She was subsequently defibrillated resulting in restoration of sinus rhythm with a QTc interval of 544 msec. Further evaluation revealed a diagnosis of Takotsubo Cardiomyopathy (TCM contributing to the development of a multifactorial acquired long QT syndrome (LQTS. The case highlights the role of TCM as a cause of LQTS in the setting of multiple risk factors including old age, female gender, hypokalemia, and treatment with QT prolonging medications. It also highlights the multifactorial nature of acquired LQTS and lends support to growing evidence of an association with TCM.

  7. MT-CYB mutations in hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Hagen, Christian M; Aidt, Frederik H; Havndrup, Ole

    2013-01-01

    Mitochondrial dysfunction is a characteristic of heart failure. Mutations in mitochondrial DNA, particularly in MT-CYB coding for cytochrome B in complex III (CIII), have been associated with isolated hypertrophic cardiomyopathy (HCM). We hypothesized that MT-CYB mutations might play an important...... and m.15482T>C; p.S246P were identified. Modeling showed that the p.C93Y mutation leads to disruption of the tertiary structure of Cytb by helix displacement, interfering with protein-heme interaction. The p.S246P mutation induces a diproline structure, which alters local secondary structure and induces...... of HCM patients. We propose that further patients with HCM should be examined for mutations in MT-CYB in order to clarify the role of these variants....

  8. Dilated cardiomyopathy in cats - A case report

    Directory of Open Access Journals (Sweden)

    K. Jeyaraja

    2013-08-01

    Full Text Available Two cats were brought to Madras Veterinary College Teaching Hospital with the history and clinical signs suggestive of congestive heart failure ie, coughing, exercise intolerance, dyspnea, abdominal distension etc. There was history of feeding the cat with home made diet in one case and in other with commercial dog food. Based on electrocardiographic, radiographic and echocardiographic findings, the diagnosis of dilated cardiomyopathy was done in both the cases. The cases were managed with enalapril maleate, furosemide, dietary taurine supplementation and other supportive therapy. Among these two cases, one cat died on 2nd day of treatment and the other showed recovery after 8 days of treatment. [Vet World 2013; 6(4.000: 226-227

  9. A Case Report of Reversible Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Abhishek Singhai

    2014-01-01

    Full Text Available Dilated cardiomyopathy (DCM is mostly an idiopathic disease with a progressive and irreversible course. It carries poor prognosis and outcome. Rarely, a reversible metabolic etiology that is amenable to specific therapy is identified. Alteration in thyroid status can lead to changes in systolic and diastolic function of left ventricle. Heart is sensitive to thyroid hormone changes, and cardiac disorders are commonly associated with both hyper and hypothyroidism. Diastolic dysfunction is the most common abnormality reported in hypothyroidism. In systolic function, prolonged systolic time interval or normal cardiac function has been reported by most workers. DCM is a rare presentation of hypothyroidism. Here, we report a case of 40-year-old female diagnosed with DCM due to hypothyroidism

  10. Superior vena thrombosis with peripartum dilated cardiomyopathy

    International Nuclear Information System (INIS)

    Munir, R.; Hussain, S.; Kayani, A.M.

    2014-01-01

    A 30 years multiparous female with history of emergency caesarean section 10 days back was referred to us with cough, severe breathlessness at rest, orthopnea with pain in neck and arms. Clinical examination revealed signs of heart failure. Echocardiography showed ejection fraction of 15%, with no right ventricular strain. A diagnosis of peripartum cardiomyopathy was made. Doppler ultrasound of neck veins showed bilateral internal jugular vein thrombosis. Subsequent multislice CT examination showed thrombosis of superior vena cava and both internal jugular veins (with collateral formation) and pulmonary embolism. There were no mediastinal abnormalities on the CT scan. Her thrombophilia screen and CT scan brain was normal. She was managed in collaboration with cardiologist. Following treatment with subcutaneous enoxaparin therapy and warfarin her symptoms of upper limb pain improved. She responded very well to medical therapy for heart failure with marked improvement of NYHA functional class. (author)

  11. Sress cardiomyopathy: clinical features and imaging findings

    International Nuclear Information System (INIS)

    Zhao Shihua; Yan Chaowu; Jiang Shiliang; Lu Minjie; Li Shiguo; Liu Qiong; He Zuoxiang

    2007-01-01

    Objective: One typical case with stress cardiomyopathy was reported and the current knowledge of the syndrome was reviewed to improve relevant knowledge. Methods: A 71-year-old female patient presented dyspnea and chest pain due to emotional stress. ECG, echocardiography, selective coronary, artery angiography, left ventriculography, 99 Tc m -MIBI single photon emission computed tomography (SPECT), 18 F-FDG SPECT and MRI were performed. Results: Electrocardiogram at admission showed ST segment elevation and T wave inversion in leads V1-V4. Pathological Q wave occurred 1 week later, it disappeared 1 month later however and severe T wave inversion occurred. Normal or slightly elevated cardiac enzymes in the blood were found during the course. Left ventriculogram at admission showed left ventricular apical ballooning with LVEF of 30%. The ballooning volume was about 3/4 of left ventricular volume, without any corresponding coronary artery diseases found in coronary angiogram. The abnormal apical ballooning decreased significantly in the follow-up left ventficulogram performed one month later. The LVEF rose up to 63.6%. 99 Tc m -MIBI and 18 F-FDG SPECT showed mismatch of perfusion and metabolism in the corresponding region, indicating presence of viable myocardium. MRI showed left ventricular apical ballooning without perfusion defect and late enhancement, indicating viability of corresponding myocardium. Conclusions: Emotional stress can cause transient left ventricular apical ballooning called 'stress cardiomyopathy'. Either 99 Tc m -MIBI SPECT associated with 18 F-FDG SPECT or delayed enhancement MRI plays an important role in identification of myocardial viability, which can efficiently guide clinical treatment. (authors)

  12. Metabolic remodeling associated with subchronic doxorubicin cardiomyopathy

    International Nuclear Information System (INIS)

    Carvalho, Rui A.; Sousa, Rui P.B.; Cadete, Virgilio J.J.; Lopaschuk, Gary D.; Palmeira, Carlos M.M.; Bjork, James A.; Wallace, Kendall B.

    2010-01-01

    Doxorubicin (Adriamycin ® ) is a potent and broad-spectrum antineoplastic agent, the clinical utility of which is restricted by a cumulative and progressive cardiomyopathy that develops with repeated dosing. Fundamental to the cardiac failure is an interference with mitochondrial respiration and inhibition of oxidative phosphorylation. Global gene expression arrays in cardiac tissue indicate that inhibition of mitochondrial oxidative phosphorylation by doxorubicin (DOX) is accompanied by a decreased expression of genes related to aerobic fatty acid oxidation and a corresponding increase in expression of genes involved in anaerobic glycolysis, possibly as an alternate source for ATP production. The aim of this investigation was to determine whether this is also manifest at the metabonomic level as a switch in metabolic flux in cardiac tissue, and whether this can be averted by co-administering the cardioprotective drug, dexrazoxane (DZR). 13 C-isotopomer analysis of isolated perfused hearts from male Sprague-Dawley rats receiving 6 weekly s.c. injections of 2 mg/kg DOX demonstrated a shift from the preferential oxidation of fatty acids to enhanced oxidation of glucose and lactate plus pyruvate, indicative of a compensatory shift towards increased pyruvate dehydrogenase activity. Substrate-selective isotopomer analysis combined with western blots indicate an inhibition of long-chain fatty acid oxidation and not MCAD activity or fatty acyl-carnitine transport. Co-administering DZR averted many treatment-related changes in cardiac substrate metabolism, consistent with DZR being an effective cardioprotective agent against DOX-induced cardiomyopathy. This switch in substrate metabolism resembles that described for other models of cardiac failure; accordingly, this change in metabolic flux may represent a general compensatory response of cardiac tissue to imbalances in bioenergetic demand and supply, and not a characteristic unique to DOX-induced cardiac failure itself.

  13. Danon’s disease as a cause of hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    I. V. Leontyeva

    2015-01-01

    Full Text Available Hypertrophic cardiomyopathy is the most common inherited disease of the myocardium. The causes of the disease are heterogeneous; its primary form results from mutations in the genes encoding cardiac sarcomeric proteins; its secondary (metabolic and syndromic forms develop due to mutations in the genes encoding non-sarcomeric proteins. Glycogenosis is the most common cause of the metabolic ones of hypertrophic cardiomyopathy. Danon’s disease (lysosome-associated membrane protein 2 (LAMP2-cardiomyopathy is a form of glycogenosis and it is characterized by a typical triad: hypertrophic cardiomyopathy, mental retardation, and skeletal myopathy. The disease occurs with mutations in the LAMP2 gene; X-linked dominant inheritance. LAMP2-cardiomyopathy does not virtually differ in its clinical manifestations from the severe form of hypertrophic cardiomyopathy, which results from mutations in the sarcomeric protein genes. The disease is characterized by a poor progressive course with the high probability of causing sudden death or with the progression of severe heart failure. Implantation of a cardioverter defibrillator is a main method to prevent sudden cardiac death. 

  14. Energy Efficient Triple IG Automation EEE (Triple-E)

    Energy Technology Data Exchange (ETDEWEB)

    McGlinchy, Timothy B

    2013-02-28

    GED Integrated Solutions collaborated with US window and door manufactures to investigate, design and verify technical and cost feasibility for producing high performance, high volume, low material and labor cost window, utilizing a modified window design containing a triple insulating glass unit (IGU). This window design approach when combined with a high volume IGU manufacturing system, can produce R5 rated windows for an approximate additional consumer cost of only $4 per square foot when compared to conventional Low-E argon dual pane IG windows, resulting in a verify practical, reliable and affordable high performance window for public use.

  15. [Triple synchronous primary gynaecological tumours. A case report].

    Science.gov (United States)

    Gutiérrez-Palomino, Laura; Romo-de Los Reyes, José María; Pareja-Megía, María Jesús; García-Mejido, José Antonio

    2016-01-01

    Synchronous multiple primary malignancies in the female genital tract are infrequent. From 50 to 70% of them corresponds to synchronous cancers of the endometrium and ovary. To our knowledge, this is only the third case report in the international literature of three concurrent gynaecological cancers of epithelial origin. A case is presented, as well as a literature review due to the infrequency of its diagnosis and the lack of information on the subject. A 49-year-old woman, with previous gynaecological history of ovarian endometriosis. She underwent a hysterectomy and bilateral oophorectomy, as she had been diagnosed with endometrial hyperplasia with atypia. The final histopathology reported synchronous ovarian, Fallopian tube, and endometrial cancer. An extension study and complete surgical staging was performed, both being negative. She received adjuvant treatment of chemotherapy and radiotherapy. She is currently free of disease. The aetiology is uncertain. There is controversy relating to increased susceptibility of synchronous neoplasms to pelvic endometriosis and inherited genetic syndromes. Its diagnosis needs to differentiate them from metastatic disease. Additionally, they are problematical from a clinical, diagnostic, therapeutic, and prognostic point of view. The presentation of more cases of triple synchronous cancers is necessary for a complete adjuvant and surgical treatment. Copyright © 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. All rights reserved.

  16. A predictive model for canine dilated cardiomyopathy-a meta-analysis of Doberman Pinscher data.

    Science.gov (United States)

    Simpson, Siobhan; Edwards, Jennifer; Emes, Richard D; Cobb, Malcolm A; Mongan, Nigel P; Rutland, Catrin S

    2015-01-01

    Dilated cardiomyopathy is a prevalent and often fatal disease in humans and dogs. Indeed dilated cardiomyopathy is the third most common form of cardiac disease in humans, reported to affect approximately 36 individuals per 100,000 individuals. In dogs, dilated cardiomyopathy is the second most common cardiac disease and is most prevalent in the Irish Wolfhound, Doberman Pinscher and Newfoundland breeds. Dilated cardiomyopathy is characterised by ventricular chamber enlargement and systolic dysfunction which often leads to congestive heart failure. Although multiple human loci have been implicated in the pathogenesis of dilated cardiomyopathy, the identified variants are typically associated with rare monogenic forms of dilated cardiomyopathy. The potential for multigenic interactions contributing to human dilated cardiomyopathy remains poorly understood. Consistent with this, several known human dilated cardiomyopathy loci have been excluded as common causes of canine dilated cardiomyopathy, although canine dilated cardiomyopathy resembles the human disease functionally. This suggests additional genetic factors contribute to the dilated cardiomyopathy phenotype.This study represents a meta-analysis of available canine dilated cardiomyopathy genetic datasets with the goal of determining potential multigenic interactions relating the sex chromosome genotype (XX vs. XY) with known dilated cardiomyopathy associated loci on chromosome 5 and the PDK4 gene in the incidence and progression of dilated cardiomyopathy. The results show an interaction between known canine dilated cardiomyopathy loci and an unknown X-linked locus. Our study is the first to test a multigenic contribution to dilated cardiomyopathy and suggest a genetic basis for the known sex-disparity in dilated cardiomyopathy outcomes.

  17. Geodynamical simulation of the RRF triple junction

    Science.gov (United States)

    Wang, Z.; Wei, D.; Liu, M.; Shi, Y.; Wang, S.

    2017-12-01

    Triple junction is the point at which three plate boundaries meet. Three plates at the triple junction form a complex geological tectonics, which is a natural laboratory to study the interactions of plates. This work studies a special triple junction, the oceanic transform fault intersects the collinear ridges with different-spreading rates, which is free of influence of ridge-transform faults and nearby hotspots. First, we build 3-D numerical model of this triple junction used to calculate the stead-state velocity and temperature fields resulting from advective and conductive heat transfer. We discuss in detail the influence of the velocity and temperature fields of the triple junction from viscosity, spreading rate of the ridge. The two sides of the oceanic transform fault are different sensitivities to the two factors. And, the influence of the velocity mainly occurs within 200km of the triple junction. Then, we modify the model by adding a ridge-transform fault to above model and directly use the velocity structure of the Macquarie triple junction. The simulation results show that the temperature at both sides of the oceanic transform fault decreases gradually from the triple junction, but the temperature difference between the two sides is a constant about 200°. And, there is little effect of upwelling velocity away from the triple junction 100km. The model results are compared with observational data. The heat flux and thermal topography along the oceanic transform fault of this model are consistent with the observed data of the Macquarie triple junction. The earthquakes are strike slip distributed along the oceanic transform fault. Their depths are also consistent with the zone of maximum shear stress. This work can help us to understand the interactions of plates of triple junctions and help us with the foundation for the future study of triple junctions.

  18. Inflammatory aetiology of human myometrial activation tested using directed graphs.

    Directory of Open Access Journals (Sweden)

    2005-07-01

    Full Text Available THERE ARE THREE MAIN HYPOTHESES FOR THE ACTIVATION OF THE HUMAN UTERUS AT LABOUR: functional progesterone withdrawal, inflammatory stimulation, and oxytocin receptor activation. To test these alternatives we have taken information and data from the literature to develop causal pathway models for the activation of human myometrium. The data provided quantitative RT-PCR results on key genes from samples taken before and during labour. Principal component analysis showed that pre-labour samples form a homogenous group compared to those during labour. We therefore modelled the alternative causal pathways in non-labouring samples using directed graphs and statistically compared the likelihood of the different models using structural equations and D-separation approaches. Using the computer program LISREL, inflammatory activation as a primary event was highly consistent with the data (p = 0.925, progesterone withdrawal, as a primary event, is plausible (p = 0.499, yet comparatively unlikely, oxytocin receptor mediated initiation is less compatible with the data (p = 0.091. DGraph, a software program that creates directed graphs, produced similar results (p= 0.684, p= 0.280, and p = 0.04, respectively. This outcome supports an inflammatory aetiology for human labour. Our results demonstrate the value of directed graphs in determining the likelihood of causal relationships in biology in situations where experiments are not possible.

  19. Comparison of radiological findings and microbial aetiology of childhood pneumonia

    International Nuclear Information System (INIS)

    Korppi, M.; Kiekara, O.; Kosma, T.H.; Soimakallio, S.

    1993-01-01

    61 children were treated in hospital from 1981 to 1982 because of both radiologically and microbiologically verified viral or bacterial pneumonia. The chest radiographs were interpreted by two radiologists, not familiar with the clinical data, on two occasions three years apart, and only those patients with a definite alveolar or interstitial pneumonia at both evaluations were included in the present analysis. In addition, all patients had viral, mixed viral-bacterial or bacterial infections diagnosed by viral or bacterial antibody or antigen assays. Viral infection alone was seen in 7, mixed viral-bacterial infection in 8 and bacterial infection alone in 12 of the 27 patients with alveolar pneumonia. The respective figures were 13, 13 and 8 for the 34 patients with interstitial pneumonia. C-reactive protein concentration was greater than 40 mg/l in 15 of the patients with alveolar and in 11 of the patients with interstitial pneumonia. Thus 74% of the patients with alveolar and 62% with interstitial pneumonia had bacterial infection, either alone or as a mixed viral-bacterial infection. The results suggest that the presence of an alveolar infiltrate in a chest radiograph is a specific but insensitive indicator of bacterial pneumonia. It is concluded that patients with alveolar pneumonia should be treated with antibiotics. In patients with interstitial pneumonia, however, both viral and bacterial aetiology are possible. In those, the decision concerning antibiotic treatment should be based on clinical and laboratory findings. 21 refs., 4 tabs

  20. Frozen shoulder contracture syndrome - Aetiology, diagnosis and management.

    Science.gov (United States)

    Lewis, Jeremy

    2015-02-01

    Frozen shoulder is a poorly understood condition that typically involves substantial pain, movement restriction, and considerable morbidity. Although function improves overtime, full and pain free range, may not be restored in everyone. Frozen shoulder is also known as adhesive capsulitis, however the evidence for capsular adhesions is refuted and arguably, this term should be abandoned. The aim of this Masterclass is to synthesise evidence to provide a framework for assessment and management for Frozen Shoulder. Although used in the treatment of this condition, manipulation under anaesthetic has been associated with joint damage and may be no more effective than physiotherapy. Capsular release is another surgical procedure that is supported by expert opinion and published case series, but currently high quality research is not available. Recommendations that supervised neglect is preferable to physiotherapy have been based on a quasi-experimental study associated with a high risk of bias. Physiotherapists in the United Kingdom have developed dedicated care pathways that provide; assessment, referral for imaging, education, health screening, ultrasound guided corticosteroid and hydro-distension injections, embedded within physiotherapy rehabilitation. The entire pathway is provided by physiotherapists and evidence exists to support each stage of the pathway. Substantial on-going research is required to better understand; epidemiology, patho-aetiology, assessment, best management, health economics, patient satisfaction and if possible prevention. Copyright © 2014 Elsevier Ltd. All rights reserved.

  1. Vulvovaginitis: clinical features, aetiology, and microbiology of the genital tract

    Science.gov (United States)

    Jaquiery, A; Stylianopoulos, A; Hogg, G; Grover, S

    1999-01-01

    AIM—To clarify the contribution of clinical and environmental factors and infection to the aetiology of vulvovaginitis in premenarchal girls, and to determine clinical indicators of an infectious cause.
DESIGN—It was necessary first to define normal vaginal flora. Cases were 50 premenarchal girls > 2 years old with symptoms of vulvovaginitis; 50 controls were recruited from girls in the same age group undergoing minor or elective surgery.
RESULTS—Interview questionnaire showed no difference between cases and controls in regards to hygiene practices, exposure to specific irritants, or history of possible sexual abuse. Normal vaginal flora was similar to that described in previous studies, with the exception of organisms likely to be associated with sexual activity. 80% of cases had no evidence of an infectious cause. In the 10 cases in whom an infectious cause was found, there was significantly more visible discharge and distinct redness of the genital area on examination compared with other cases.
CONCLUSIONS— The findings suggest that vulvovaginitis in this age group is not usually infectious or necessarily related to poor hygiene, specific irritants or sexual abuse, although any of these can present with genital irritation. The possibility of sexual abuse should always be considered when a child presents with genital symptoms, but our data indicate it is not a common contributing factor. Infection is generally associated with vaginal discharge and moderate or severe inflammation.

 PMID:10373139

  2. Towards Early Detection and Risk Stratification of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

    NARCIS (Netherlands)

    Riele, A.S.J.M. te

    2016-01-01

    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is an inherited cardiomyopathy characterized by frequent ventricular arrhythmias and usually slowly progressive ventricular dysfunction. Since its initial description in 1982, sudden cardiac death (SCD) occurring in young and usually

  3. Distinct fibrosis pattern in desmosomal and phospholamban mutation carriers in hereditary cardiomyopathies

    NARCIS (Netherlands)

    Sepehrkhouy, Shahrzad; Gho, Johannes M.I.H.; van Es, René; Harakalova, Magdalena; de Jonge, Nicolaas; Dooijes, Dennis; van der Smagt, Jasper J.; Buijsrogge, Marc P.; Hauer, Richard N.W.; Goldschmeding, Roel; de Weger, Roel A.; Asselbergs, Folkert W.; Vink, Aryan

    2017-01-01

    Background Desmosomal and phospholamban (PLN) mutations are associated with arrhythmogenic cardiomyopathy. Ultimately, most cardiomyopathic hearts develop significant cardiac fibrosis. Objective To compare the fibrosis patterns of desmosomal and p. Arg14del PLN–associated cardiomyopathies with the

  4. Magnetic resonance imaging in familial hypertrophic cardiomyopathy associated with abnormal thallium perfusion and cardiac enzymes

    Energy Technology Data Exchange (ETDEWEB)

    Nishimura, Tsunehiko; Nagata, Seiki; Sakakibara, Hiroshi

    1988-05-01

    Gated magnetic resonance imaging (MRI) was performed in 6 patients with familial hypertrophic cardiomyopathy associated with abnormal thallium perfusion, and 12 patients with ordinary hypertrophic cardiomyopathy. The patients with ordinary hypertrophic cardiomyopathy and abnormal thickening of the septal wall and normal left ventricular dimensions, while the patients with familial hypertrophic cardiomyopathy had focal wall thinning (usually involving the apical-septal wall) and dilated left ventricle in addition to hypertrophied heart. The quantitative measurement for cardiac dimensions using MRI was similar to that found on echocardiography in all cases. In addition, inhomogeneous signal intensities at left ventricular wall were observed in 3 cases of familial hypertrophic cardiomyopathy, which may suggest the existence of myocardial fibrosis. Gated MRI should be performed for early detection and follow-up of hypertrophic cardiomyopathy, since some patients will progress from hypertrophic cardiomyopathy to dilated cardiomyopathy.

  5. THE ROLE OF PARVOVIRUS B19 IN THE DEVELOPMENT OF INFLAMMATORY CARDIOMYOPATHY

    Directory of Open Access Journals (Sweden)

    A. Yu. Shchedrina

    2013-01-01

    Full Text Available The problem of inflammatory cardiomyopathy is discussed. The etiology, pathogenesis, diagnosis and treatment of inflammatory cardiomyopathy are considered with focus on the role of parvovirus B19.

  6. Muscle Stem Cell Therapy for the Treatment of DMD Associated Cardiomyopathy

    Science.gov (United States)

    2013-10-01

    SUBTITLE Muscle Stem Cell Therapy for the Treatment of DMD Associated Cardiomyopathy 5a. CONTRACT NUMBER Subproject 1: Muscle Stem Cell Therapy...various muscle diseases, including Duchenne muscular dystrophy (DMD), develop progressive cardiomyopathy. Cellular cardiomyoplasty, which involves the

  7. Characterization and Long-Term Prognosis of Postmyocarditic Dilated Cardiomyopathy Compared With Idiopathic Dilated Cardiomyopathy.

    Science.gov (United States)

    Merlo, Marco; Anzini, Marco; Bussani, Rossana; Artico, Jessica; Barbati, Giulia; Stolfo, Davide; Gigli, Marta; Muça, Matilda; Naso, Paola; Ramani, Federica; Di Lenarda, Andrea; Pinamonti, Bruno; Sinagra, Gianfranco

    2016-09-15

    Dilated cardiomyopathy (DC) is the final common pathway of different pathogenetic processes and presents a significant prognostic heterogeneity, possibly related to its etiologic variety. The characterization and long-term prognosis of postmyocarditic dilated cardiomyopathy (PM-DC) remain unknown. This study assesses the clinical-instrumental evolution and long-term prognosis of a large cohort of patients with PM-DC. We analyzed 175 patients affected with DC consecutively enrolled from 1993 to 2008 with endomyocardial biopsy (EMB) data available. PM-DC was defined in the presence of borderline myocarditis at EMB or persistent left ventricular dysfunction 1 year after diagnosis of active myocarditis at EMB. Other patients were defined as affected by idiopathic dilated cardiomyopathy (IDC). Analysis of follow-up evaluations was performed at 24, 60, and 120 months. We found 72 PM-DC of 175 enrolled patients (41%). Compared with IDC, patients with PM-DC were more frequently females and less frequently presented a familial history of DC. No other baseline significant differences were found. During the long-term follow-up (median 154, first to third interquartile range 78 to 220 months), patients with PM-DC showed a trend toward slower disease progression. Globally, 18 patients with PM-DC (25%) versus 49 with IDC (48%) experienced death/heart transplantation (p = 0.045). The prognostic advantage for patients with PM-DC became significant beyond 40 months of follow-up. At multivariable time-dependent Cox analysis, PM-DC was confirmed to have a global independent protective role (hazard ratio 0.53, 95% confidence interval 0.28 to 0.97, p = 0.04). In conclusion, PM-DC is characterized by better long-term prognosis compared with IDC. An exhaustive etiologic characterization appears relevant in the prognostic assessment of DC. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Echocaridography, electrocardiography, and radiography of cats with dilatation cardiomyopathy, hypertrophic cardiomyopathy, and hyperyroidism

    International Nuclear Information System (INIS)

    Moise, N.S.; Dietze, A.E.; Mezza, L.E.; Strickland, D.; Erb, H.N.; Edwards, N.J.

    1986-01-01

    The echocardiographic, ECG, and radiographic findings of sequentially examined cats with dilatation cardiomyopathy (DCM, n = 7), hypertrophic cardiomyopathy (HCM, n = 8), and hyperthyroidism (HT, n = 20) were compared with those of healthy control cats (n = 11). Cats with DCM were easily differentiated from healthy cats by echocardiography and from cats with HCM and HT by a dilated left ventricle at end-diastole with a mean +/- SD of 2.20 +/- 0.36 cm, reduced fractional shortening (2.9% +/- 3.7%), reduced aortic amplitude (0.07 +/- 0.05 cm), reduced left ventricular wall amplitude (0.09 +/- 0.09 cm), and increased E-point septal separation (0.83 +/- 0.29 cm). The cats with HCM were most consistently recognized echocardiographically by increased left ventricular wall thickness at end-diastole (0.75 +/- 0.12 cm). Some cats with HT had abnormal echocardiograms with left ventricular wall hypertrophy. These cats could usually be differentiated from the cats with HCM because of normal or increased ventricular wall amplitude, aortic amplitude, or percentage of thickening of the left ventricular wall and interventricular septum. Left atrial enlargement (left atrial diameter greater than 1.57 cm or left atrium/aorta greater than 1.75) was commonly detected by the echocardiogram in cats with DCM, HCM, or HT. The echocardiogram was helpful in differentiating the type of cardiomyopathy (DCM, HCM, or HT) when plain thoracic radiographs indicated that cardiomegaly existed. The ECG may have indicated incorrectly that there was left ventricular enlargement in some cats with HT, and it did not indicate consistently that left ventricular enlargement existed when present in cats with DCM or HCM. The ECG was a poor indicator of left atrial enlargement in all cats

  9. Guided search for triple conjunctions.

    Science.gov (United States)

    Nordfang, Maria; Wolfe, Jeremy M

    2014-08-01

    A key tenet of feature integration theory and of related theories such as guided search (GS) is that the binding of basic features requires attention. This would seem to predict that conjunctions of features of objects that have not been attended should not influence search. However, Found (1998) reported that an irrelevant feature (size) improved the efficiency of search for a Color × Orientation conjunction if it was correlated with the other two features across the display, as compared to the case in which size was not correlated with color and orientation features. We examined this issue with somewhat different stimuli. We used triple conjunctions of color, orientation, and shape (e.g., search for a red, vertical, oval-shaped item). This allowed us to manipulate the number of features that each distractor shared with the target (sharing) and it allowed us to vary the total number of distractor types (and, thus, the number of groups of identical items: grouping). We found that these triple conjunction searches were generally very efficient--producing very shallow Reaction Time × Set Size slopes, consistent with strong guidance by basic features. Nevertheless, both of the variables, sharing and grouping, modulated performance. These influences were not predicted by previous accounts of GS; however, both can be accommodated in a GS framework. Alternatively, it is possible, though not necessary, to see these effects as evidence for "preattentive binding" of conjunctions.

  10. A predictive model for canine dilated cardiomyopathy: a meta-analysis of Doberman Pinscher data

    OpenAIRE

    Simpson, Siobhan; Edwards, Jennifer; Emes, Richard D.; Cobb, Malcolm A.; Mongan, Nigel P.; Rutland, Catrin S.

    2015-01-01

    Dilated cardiomyopathy is a prevalent and often fatal disease in humans and dogs. Indeed dilated cardiomyopathy is the third most common form of cardiac disease in humans, reported to affect approximately 36 individuals per 100,000 individuals. In dogs, dilated cardiomyopathy is the second most common cardiac disease and is most prevalent in the Irish Wolfhound, Doberman Pinscher and Newfoundland breeds. Dilated cardiomyopathy is characterised by ventricular chamber enlargement and systolic d...

  11. Diet and the microbial aetiology of dental caries: new paradigms.

    Science.gov (United States)

    Bradshaw, David J; Lynch, Richard J M

    2013-12-01

    The microbial and dietary factors that drive caries have been studied scientifically for 120 years. Frequent and/or excessive sugar (especially sucrose) consumption has been ascribed a central role in caries causation, while Streptococcus mutans appeared to play the key role in metabolising sucrose to produce lactic acid, which can demineralise enamel. Many authors described caries as a transmissible infectious disease. However, more recent data have shifted these paradigms. Streptococcus mutans does not fulfil Koch's postulates - presence of the organism leading to disease, and absence of the organism precluding disease. Furthermore, molecular microbiological methods have shown that, even with a sugar-rich diet, a much broader spectrum of acidogenic microbes is found in dental plaque. While simple sugars can be cariogenic, cooked starches are also now recognised to be a caries threat, especially because such starches, while not 'sticky in the hand', can be highly retentive in the mouth. Metabolism of starch particles can yield a prolonged acidic challenge, especially at retentive, caries-prone sites. These changes in the paradigms of caries aetiology have important implications for caries control strategies. Preventing the transmission of S. mutans will likely be inadequate to prevent caries if a sufficiently carbohydrate-rich diet continues. Similarly, restriction of sucrose intake, although welcome, would be unlikely to be a panacea for caries, especially if frequent starch intake persisted. Instead, approaches to optimise fluoride delivery, to target plaque acidogenicity or acidogenic microbes, to promote plaque alkali generation, to increase salivary flow or replace fermentable carbohydrates with non-fermentable alternatives may be more promising. © 2013 FDI World Dental Federation.

  12. Binocular diplopia in a tertiary hospital: Aetiology, diagnosis and treatment.

    Science.gov (United States)

    Merino, P; Fuentes, D; Gómez de Liaño, P; Ordóñez, M A

    2017-12-01

    To study the causes, diagnosis and treatment in a case series of binocular diplopia. A retrospective chart review was performed on patients seen in the Diplopia Unit of a tertiary centre during a one-year period. Diplopia was classified as: acute≤1 month since onset; subacute (1-6 months); and chronic (>6 months). Resolution of diplopia was classified as: spontaneous if it disappeared without treatment, partial if the course was intermittent, and non-spontaneous if treatment was required. It was considered a good outcome when diplopia disappeared completely (with or without treatment), or when diplopia was intermittent without significantly affecting the quality of life. A total of 60 cases were included. The mean age was 58.65 years (60% female). An acute or subacute presentation was observed in 60% of the patients. The mean onset of diplopia was 82.97 weeks. The most frequent aetiology was ischaemic (45%). The most frequent diagnosis was sixth nerve palsy (38.3%), followed by decompensated strabismus (30%). Neuroimaging showed structural lesions in 17.7% of the patients. There was a spontaneous resolution in 28.3% of the cases, and there was a good outcome with disappearance of the diplopia in 53.3% at the end of the study. The most frequent causes of binocular diplopia were cranial nerve palsies, especially the sixth cranial nerve, followed by decompensated strabismus. Structural lesions in imaging tests were more than expected. Only one third of patients had a spontaneous resolution, and half of them did not have a good outcome despite of treatment. Copyright © 2017 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  13. Pseudotumour cerebri in children: Aetiology, clinical features, and progression.

    Science.gov (United States)

    Mosquera Gorostidi, A; Iridoy Zulet, M; Azcona Ganuza, G; Gembero Esarte, E; Yoldi Petri, M E; Aguilera Albesa, S

    2017-01-09

    The definition, associated aetiologies, diagnosis, and treatment of idiopathic intracranial hypertension, or pseudotumour cerebri (PTC), are constantly being revised in the paediatric population. Our study included children younger than 15 years old with PTC and attended at a reference hospital in the past 12 years. We analysed the clinical and epidemiological features of our sample and the diagnostic and treatment approaches. PTC was defined as presence of intracranial hypertension (CSF opening pressure>25cmH 2 O) and absence of space-occupying lesions in brain MR images. A total of 12 children with PTC were included; mean age was 10 years and 90% were girls. Weight was normal in all patients. Eighty-two percent of the patients had symptoms: headache (66%), diplopia (8%), and visual loss (8%). All of them displayed papilloedema (17% unilaterally). Lumbar puncture (LP) provided the diagnosis in all cases and 91% showed no relevant MRI findings. A potential cause of PTC was identified in 5 cases: pharmacological treatment in 2 and infection (Mycoplasma pneumoniae [M. pneumoniae]) in 3. Ninety-one per cent of the patients received treatment: 75% underwent several LPs and 42% received acetazolamide and/or prednisone. Outcomes were favourable in all cases. The incidence of PTC was estimated at approximately 1 case per 100 000 children/years, in line with data reported by previous studies. Overweight was not found to be a risk factor for PTC in this population. M. pneumoniae infection may trigger PTC and cause recurrences at later stages. The absence of symptoms seems to be independent from the degree of intracranial hypertension. Acetazolamide treatment is effective in most cases, and it represents a viable alternative to repeated LP. Copyright © 2016 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  14. Severe hyperthyroidism: aetiology, clinical features and treatment outcome.

    Science.gov (United States)

    Iglesias, P; Dévora, O; García, J; Tajada, P; García-Arévalo, C; Díez, J J

    2010-04-01

    Severe hyperthyroidism (SH) is a serious medical disorder that can compromise life. There have not been systematic studies in which SH has been evaluated in detail. Here, our aims were: (1) to analyse both clinical and analytical features and outcome in patients with SH and (2) to compare these data with those found in more usual forms of hyperthyroidism. Patients and methods All patients diagnosed of SH (free thyroxine, FT4 > 100 pmol/l, NR: 11-23) seen in our endocrinology clinic in the last 15 years were studied and compared with a sample of patients with mild (mH; FT4, 23-50 pmol/l) and moderate (MH; FT4, 51-100 pmol/l) hyperthyroidism. Aetiology, clinical analytical and imaging data at diagnosis, therapeutic response and outcome were registered. Results A total of 107 patients with overt hyperthyroidism (81 females, mean age +/- SD 46.9 +/- 16.1 years) were evaluated. We studied a historic group with SH (n = 21; 14 females, 40.9 +/- 17.2 years) and, as a comparator group, we analyszed the data of 86 hyperthyroid patients (67 females, 48.4 +/- 15.5.6 years, NS) comparable in age and gender. The comparator group was classified in MH (n = 37, 26 females, 47.2 +/- 16.6 years) and mH (n = 49, 41 females, 49.4 +/- 14.8 years). In comparison with mH group, SH patients were significantly (P hyperthyroidism. FT4 was the only independent predictor of cure [OR 0.98 (CI 95%, 0.97-0.99), P hyperthyroidism is usually de novo and is accompanied by more clinical signs, symptoms, and analytical derangements, as well as higher titres of TRAb at diagnosis than milder forms of hyperthyroidism. The present data are not able to show differences in treatment modality, time to achieve cure, and remission rate among patients with mild, moderate and severe hyperthyroidism.

  15. Status epilepticus: Aetiology and D outcome in children

    International Nuclear Information System (INIS)

    Siddiqui, T.S.; Rehman, A.U.; Wazeer, M.S.

    2008-01-01

    Convulsing Status Epilepticus (CSE) is a common paediatric emergency especially under 24 months age group. Present study was done to know causes of Status Epilepticus (SE) and outcome during admission and at the time of discharge. A descriptive study in children 2 months to 15 years of age, admitted in Department of Paediatrics, Ayub Medical College, Abbottabad with first status epilepticus, was done to evaluate aetiology, complications and immediate outcome after relevant history, examination, laboratory tests. All information was recorded on Performa designed especially for this purpose. Study was conducted over 2 year period from November 2005 to November 2007. Total number of children admitted with SE was 125. Majority of SE episodes were related to acute febrile illnesses. Acute viral encephalitis was the common cause of SE especially in children younger than 24 months followed by febrile convulsions. Fifteen (12%) patients expired while neurological complications secondary to brain injury developed in 10(8%) cases. Mean seizure duration was 4.92+-9.18 hours in children with normal outcome, 5.93+-5.76 hours in children who died, and 12.85+-12.91 hours in children with abnormal neurological outcome at discharge (p>0.05). Correlation between age and duration of seizure was not significant (p>0.05). SE is a common paediatric emergency associated with high mortality and morbidity. In young children SE is commonly associated with acute viral encephalitis. Antiviral treatment should be started earlier in this group of young children after history, examination, laboratory tests along with appropriate management of SE. (author)

  16. Status epilepticus: Aetiology and D outcome in children

    Energy Technology Data Exchange (ETDEWEB)

    Siddiqui, T S; Rehman, A U [Ayub Medical College, Abbottabad (Pakistan). Dept. of Paediatrics; Wazeer, M S [Saidu Group of Hospital, Swat (Pakistan). Dept. of Community Medicine

    2008-07-15

    Convulsing Status Epilepticus (CSE) is a common paediatric emergency especially under 24 months age group. Present study was done to know causes of Status Epilepticus (SE) and outcome during admission and at the time of discharge. A descriptive study in children 2 months to 15 years of age, admitted in Department of Paediatrics, Ayub Medical College, Abbottabad with first status epilepticus, was done to evaluate aetiology, complications and immediate outcome after relevant history, examination, laboratory tests. All information was recorded on Performa designed especially for this purpose. Study was conducted over 2 year period from November 2005 to November 2007. Total number of children admitted with SE was 125. Majority of SE episodes were related to acute febrile illnesses. Acute viral encephalitis was the common cause of SE especially in children younger than 24 months followed by febrile convulsions. Fifteen (12%) patients expired while neurological complications secondary to brain injury developed in 10(8%) cases. Mean seizure duration was 4.92+-9.18 hours in children with normal outcome, 5.93+-5.76 hours in children who died, and 12.85+-12.91 hours in children with abnormal neurological outcome at discharge (p>0.05). Correlation between age and duration of seizure was not significant (p>0.05). SE is a common paediatric emergency associated with high mortality and morbidity. In young children SE is commonly associated with acute viral encephalitis. Antiviral treatment should be started earlier in this group of young children after history, examination, laboratory tests along with appropriate management of SE. (author)

  17. An unusual ST-segment elevation: apical hypertrophic cardiomyopathy shows the ace up its sleeve.

    Science.gov (United States)

    de Santis, Francesco; Pergolini, Amedeo; Zampi, Giordano; Pero, Gaetano; Pino, Paolo Giuseppe; Minardi, Giovanni

    2013-01-01

    Apical hypertrophic cardiomyopathy is part of the broad clinical and morphologic spectrum of hypertrophic cardiomyopathy. We report a patient with electrocardiographic abnormalities in whom acute coronary syndrome was excluded and apical hypertrophic cardiomyopathy was demonstrated by careful differential diagnosis. Copyright © 2012 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  18. Acute myocardial infarction and stress cardiomyopathy following the Christchurch earthquakes.

    Science.gov (United States)

    Chan, Christina; Elliott, John; Troughton, Richard; Frampton, Christopher; Smyth, David; Crozier, Ian; Bridgman, Paul

    2013-01-01

    Christchurch, New Zealand, was struck by 2 major earthquakes at 4:36 am on 4 September 2010, magnitude 7.1 and at 12:51 pm on 22 February 2011, magnitude 6.3. Both events caused widespread destruction. Christchurch Hospital was the region's only acute care hospital. It remained functional following both earthquakes. We were able to examine the effects of the 2 earthquakes on acute cardiac presentations. Patients admitted under Cardiology in Christchurch Hospital 3 week prior to and 5 weeks following both earthquakes were analysed, with corresponding control periods in September 2009 and February 2010. Patients were categorised based on diagnosis: ST elevation myocardial infarction, Non ST elevation myocardial infarction, stress cardiomyopathy, unstable angina, stable angina, non cardiac chest pain, arrhythmia and others. There was a significant increase in overall admissions (pearthquake. This pattern was not seen after the early afternoon February earthquake. Instead, there was a very large number of stress cardiomyopathy admissions with 21 cases (95% CI 2.6-6.4) in 4 days. There had been 6 stress cardiomyopathy cases after the first earthquake (95% CI 0.44-2.62). Statistical analysis showed this to be a significant difference between the earthquakes (pearthquake triggered a large increase in ST elevation myocardial infarction and a few stress cardiomyopathy cases. The early afternoon February earthquake caused significantly more stress cardiomyopathy. Two major earthquakes occurring at different times of day differed in their effect on acute cardiac events.

  19. Oxidative Stress in Dilated Cardiomyopathy Caused by MYBPC3 Mutation

    Directory of Open Access Journals (Sweden)

    Thomas L. Lynch

    2015-01-01

    Full Text Available Cardiomyopathies can result from mutations in genes encoding sarcomere proteins including MYBPC3, which encodes cardiac myosin binding protein-C (cMyBP-C. However, whether oxidative stress is augmented due to contractile dysfunction and cardiomyocyte damage in MYBPC3-mutated cardiomyopathies has not been elucidated. To determine whether oxidative stress markers were elevated in MYBPC3-mutated cardiomyopathies, a previously characterized 3-month-old mouse model of dilated cardiomyopathy (DCM expressing a homozygous MYBPC3 mutation (cMyBP-C(t/t was used, compared to wild-type (WT mice. Echocardiography confirmed decreased percentage of fractional shortening in DCM versus WT hearts. Histopathological analysis indicated a significant increase in myocardial disarray and fibrosis while the second harmonic generation imaging revealed disorganized sarcomeric structure and myocyte damage in DCM hearts when compared to WT hearts. Intriguingly, DCM mouse heart homogenates had decreased glutathione (GSH/GSSG ratio and increased protein carbonyl and lipid malondialdehyde content compared to WT heart homogenates, consistent with elevated oxidative stress. Importantly, a similar result was observed in human cardiomyopathy heart homogenate samples. These results were further supported by reduced signals for mitochondrial semiquinone radicals and Fe-S clusters in DCM mouse hearts measured using electron paramagnetic resonance spectroscopy. In conclusion, we demonstrate elevated oxidative stress in MYPBC3-mutated DCM mice, which may exacerbate the development of heart failure.

  20. Takotsubo cardiomyopathy after a dancing session: a case report

    Directory of Open Access Journals (Sweden)

    Ibrahim Ammar A

    2011-10-01

    Full Text Available Abstract Introduction Stress-induced (Takotsubo cardiomyopathy is a rare form of cardiomyopathy which presents in a manner similar to that of acute coronary syndrome. This sometimes leads to unnecessary thrombolysis therapy. The pathogenesis of this disease is still poorly understood. We believe that reporting all cases of Takotsubo cardiomyopathy will contribute to a better understanding of this disease. Here, we report a patient who, in the absence of any recent stressful events in her life, developed the disease after a session of dancing. Case presentation A 69-year-old Caucasian woman presented with features suggestive of acute coronary syndrome shortly after a session of dancing. Echocardiography and a coronary angiogram showed typical features of Takotsubo cardiomyopathy and our patient was treated accordingly. Eight weeks later, her condition resolved completely and the results of echocardiography were totally normal. Conclusions Takotsubo cardiomyopathy, though transient, is a rare and serious condition. Although it is commonly precipitated by stressful life events, these are not necessarily present. Our patient was enjoying one of her hobbies (that is, dancing when she developed the disease. This case has particular interest in medicine, especially for the specialties of cardiology and emergency medicine. We hope that it will add more information to the literature about this rare condition.

  1. Holonomy loops, spectral triples and quantum gravity

    DEFF Research Database (Denmark)

    Johannes, Aastrup; Grimstrup, Jesper Møller; Nest, Ryszard

    2009-01-01

    We review the motivation, construction and physical interpretation of a semi-finite spectral triple obtained through a rearrangement of central elements of loop quantum gravity. The triple is based on a countable set of oriented graphs and the algebra consists of generalized holonomy loops...

  2. Spectral triples and the geometry of fractals

    DEFF Research Database (Denmark)

    Christensen, Erik; Ivan, Cristina; Schroe, Elmar

    2012-01-01

    It is shown that one can construct a spectral triple for the Sierpinski gasket such that it represents any given K-homology class, On the other hand if the geodesic distance and the dimension has to be part of the data from the triple, there are certain restriction....

  3. Aetiology and incidence of maxillofacial trauma in Amsterdam: a retrospective analysis of 579 patients

    NARCIS (Netherlands)

    van den Bergh, B.; Karagozoglu, K.H.; Heijmans, M.W.; Forouzanfar, T.

    2012-01-01

    Introduction: The incidence of maxillofacial fractures varies widely between different countries. The large variability in reported incidence and aetiology is due to a variety of contributing factors, including environmental, cultural and socioeconomic factors. This retrospective report presents a

  4. Aetiology and incidence of maxillofacial trauma in Amsterdam: a retrospective analysis of 579 patients

    NARCIS (Netherlands)

    van den Bergh, B.; Karagozoglu, K.H.; Heymans, M.W.; Forouzanfar, T.

    2012-01-01

    Introduction The incidence of maxillofacial fractures varies widely between different countries. The large variability in reported incidence and aetiology is due to a variety of contributing factors, including environmental, cultural and socioeconomic factors. This retrospective report presents a

  5. Triple Test in Carcinoma Breast

    Science.gov (United States)

    Sameer; Mukherjee, Arindam

    2014-01-01

    Introduction: The commonest clinical presentation in majority of breast pathology is a lump. A definite diagnosis of breast lump is very important for the surgeon to decide on the final course of treatment and also saves the patient from unnecessary physical, emotional and psychological trauma if there is a definite preoperative diagnosis of benign lesion. The present study was done to evaluate the effectiveness and relevance of “TRIPLE TEST”in diagnosis of carcinoma breast in rural labour class population. Materials and Methods: The present study was a prospective study conducted on patients over 35 years of age having palpable breast lumps presenting in the out patient department of general surgery, ESI Hospital Basaidarapur New Delhi, India. The duration of study was from May 2007 to June 2009 and a total of 100 cases were studied. Each patient was subjected to a detailed history, clinical breast examination ,diagnostic mammography and FNAC. In this study, the results of each modality was divided in three groups: benign, suspicious and malignant. The sensitivity, specificity, positive predictive value, negative predictive value and diagnostic accuracy of each test was calculated individually and as combined. Result: Out of 100 patients enrolled in this study, 60 cases were benign and 40 cases were of malignant breast disease. The age of patients with carcinoma breast in the series varied from 35 years to 70 years. The highest incidence of malignancy noted was 30% in 41-50 years age group (4th decade) followed by 27.5% in 51-60 years age group (5th decade). The sensitivity of clinical examination was found to be 75%, specificity was 83.3%, positive predictive value (PPV) of 75% and diagnostic accuracy of 80%. The sensitivity, specificity, positive predictive value and diagnostic accuracy of mammography was calculated and was found to be 94.9% , 90% , 86% and 92% respectively. The sensitivity, specificity, positive predictive value and diagnostic accuracy of

  6. Cardiac norepinephrine kinetics in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Brush, J.E. Jr.; Eisenhofer, G.; Garty, M.; Stull, R.; Maron, B.J.; Cannon, R.O. III; Panza, J.A.; Epstein, S.E.; Goldstein, D.S.

    1989-01-01

    We examined the uptake and release of norepinephrine in the cardiac circulation and other regional vascular beds in 11 patients with hypertrophic cardiomyopathy (HCM) and in 10 control subjects during simultaneous infusion of tracer-labeled norepinephrine and isoproterenol. Cardiac neuronal uptake of norepinephrine was assessed by comparing regional removal of tracer-labeled norepinephrine with that of tracer-labeled isoproterenol (which is not a substrate for neuronal uptake) and by the relation between production of dihydroxyphenylglycol (DHPG), an exclusively intraneuronal metabolite of norepinephrine, and regional spillover of norepinephrine. Cardiac extraction of norepinephrine averaged 59 +/- 17% in the patients with HCM, significantly less than in the control subjects (79 +/- 13%, p less than 0.05), whereas cardiac extraction of isoproterenol was similar in the two groups (13 +/- 23% versus 13 +/- 14%), indicating that neuronal uptake of norepinephrine was decreased in the patients with HCM. The cardiac arteriovenous difference in norepinephrine was significantly larger in the patients with HCM than in the control subjects (73 +/- 77 versus 13 +/- 50 pg/ml, p less than 0.05), as was the product of the arteriovenous difference in norepinephrine and coronary blood flow (7.3 +/- 7.3 versus 0.8 +/- 3.0 ng/min, p less than 0.05)

  7. Cardiomyopathy in Patients With Hereditary Bullous Epidermolysis.

    Science.gov (United States)

    Batalla, A; Vicente, A; Bartrons, J; Prada, F; Fortuny, C; González-Enseñat, M A

    In recent decades, an association has been reported between epidermolysis bullosa (EB) and dilated cardiomyopathy (DC). DC is typically in an advanced phase when detected, leading to a poorer prognosis. Our objective was to determine the prevalence of DC in patients with EB seen in Hospital San Joan de Déu in Barcelona, Spain, between May 1986 and April 2015. This was a descriptive, cross-sectional chart-review study in which we recorded the type and main subtypes of EB and the presence or absence of DC. Fifty-seven patients with EB were found, 19 with EB simplex, 10 with junctional EB, 27 with dystrophic EB (14 dominant dystrophic and 13 recessive dystrophic), and just 1 with Kindler syndrome. DC was detected in only 2 patients with recessive dystrophic EB. Twenty-three patients had presented factors that could have had a causal relationship with the potential onset of DC. DC is a possible complication of EB, particularly in recessive dystrophic EB. Periodic follow-up should be performed to make an early diagnosis and start treatment. Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  8. Syncope in children with hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    I. V. Leontyeva

    2014-01-01

    Full Text Available Seventy children aged 7 to 17 years with hypertrophic cardiomyopathy (HCM were examined; among them there were 11 syncope patients and 5 presyncope patients. The screening program included standard electrocardiography (ECG, Doppler echocardiogra-phy, 24-hour Holter ECG monitoring, and an incremental exercise testing (Bruce treadmill test. The markers of myocardial electrical instability were determined. In the children with HCM, syncope was established to be heterogeneous; it had an arrhythmogenic origin and, in most cases, occurred in the presence of tachyarrhythmia (44% or bradyarrythmia (25%; its vasovagal genesis was probable in one third of the examinees. The children with syncope were typified by the asymmetric, obstructive form of HCM, at the same tone there was most commonly left ventricular hypertrophy concurrent with left atrial enlargement. 24-hour Holter monitoring showed that bradycardia was prevalent in the patients, 3 patients were found to have more than 2-second cardiac rhythm pauses caused by second-degree atrioventricular block in 1 case or by sick sinus syndrome in 2. Nonsustained ventricular tachycardia was noted in two patients. The children with syncope were typified by the signs of myocardial electrical instability as a reduction in the early phase of heart rate turbulence and by impaired QT/RR interval adaptation as hyperadaptation. The paper presents the developed management tactics for children with syncope and indications for the implantation of a cardioverter defibrillator, a pacemaker, or an ECG loop recorder.

  9. Exploring digenic inheritance in arrhythmogenic cardiomyopathy.

    Science.gov (United States)

    König, Eva; Volpato, Claudia Béu; Motta, Benedetta Maria; Blankenburg, Hagen; Picard, Anne; Pramstaller, Peter; Casella, Michela; Rauhe, Werner; Pompilio, Giulio; Meraviglia, Viviana; Domingues, Francisco S; Sommariva, Elena; Rossini, Alessandra

    2017-12-08

    Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failure and sudden cardiac death. ACM is considered a monogenic disorder, but the low penetrance of mutations identified in patients suggests the involvement of additional genetic or environmental factors. We used whole exome sequencing to investigate digenic inheritance in two ACM families where previous diagnostic tests have revealed a PKP2 mutation in all affected and some healthy individuals. In family members with PKP2 mutations we determined all genes that harbor variants in affected but not in healthy carriers or vice versa. We computationally prioritized the most likely candidates, focusing on known ACM genes and genes related to PKP2 through protein interactions, functional relationships, or shared biological processes. We identified four candidate genes in family 1, namely DAG1, DAB2IP, CTBP2 and TCF25, and eleven candidate genes in family 2. The most promising gene in the second family is TTN, a gene previously associated with ACM, in which the affected individual harbors two rare deleterious-predicted missense variants, one of which is located in the protein's only serine kinase domain. In this study we report genes that might act as digenic players in ACM pathogenesis, on the basis of co-segregation with PKP2 mutations. Validation in larger cohorts is still required to prove the utility of this model.

  10. Genetic bases of arrhythmogenic right ventricular cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Alessandra Rampazzo

    2010-05-01

    Full Text Available Arrhythmogenic right ventricular cardiomyopathy (ARVC is a heart muscle disease in which the pathological substrate is a fibro-fatty replacement of the right ventricular myocardium. The major clinical features are different types of arrhythmias with a left branch block pattern. ARVC shows autosomal dominant inheritance with incomplete penetrance. Recessive forms were also described, although in association with skin disorders. Ten genetic loci have been discovered so far and mutations were reported in five different genes. ARVD1 was associated with regulatory mutations of transforming growth factor beta-3 (TGFβ3, whereas ARVD2, characterized by effort-induced polymorphic arrhythmias, was associated with mutations in cardiac ryanodine receptor-2 (RYR2. All other mutations identified to date have been detected in genes encoding desmosomal proteins: plakoglobin (JUP which causes Naxos disease (a recessive form of ARVC associated with palmoplantar keratosis and woolly hair; desmoplakin (DSP which causes the autosomal dominant ARVD8 and plakophilin-2 (PKP2 involved in ARVD9. Desmosomes are important cell-to-cell adhesion junctions predominantly found in epidermis and heart; they are believed to couple cytoskeletal elements to plasma membrane in cell-to-cell or cell-to-substrate adhesions.

  11. EBCT in diagnosis on primary cardiomyopathy

    International Nuclear Information System (INIS)

    Li Xiangmin; Zhou Xuhui; Meng Quanfei; Li Weiduo; Peng Qian; Tan Zhiyu

    2000-01-01

    Objective: To evaluate the diagnostic value of electron beam CT (EBCT) in primary cardiomyopathy (PCM). Methods: EBCT including coronary scanning and heart movie study was performed in 15 patients. The diagnosis of PCM was established by clinical and imaging findings or/and pathologic examination. Results: BECT findings related to the classification of PCM drawn up by WHO/ISFC were as follows: (1) dilated PCM (8 cases): dilated left ventricle (LV) was found in 7 of 8 cases and dilated right ventricle (RV) in the remaining one. Hypokinetic contraction of the LV wall with (250 ± 101) ml LVEDV and (18.9 ±6.6)% LVEF presented in the patients with dilated LV. (2) Hypertrophic PCM (5 cases): Hypertrophic ventricular septum (16.5 ± 2.3) mm was demonstrated in all cases, hypertrophy of the LV wall or the apex in 3 of 5 cases, and stenosis of the LV outflow tract in 2 cases. (3) Restrictive PCM (2 cases): Thickening of endocardium with lower density than cardiac muscle, reduced RV, obliteration of apex, hypokinetic contraction of the RV wall, and dilatation of right atrium (RA) with parietal thrombus formation of RA was identified in one patient. Both the LV and the RV were involved, with enlargement of atrium. Conclusion: The findings of PCM on EBCT seem to reflect pathologic and functional changes of PCM, and may be useful for diagnosis and classification of PCM

  12. Epidemiology of cardiomyopathy - A clinical and genetic study of dilated cardiomyopathy: The EPOCH-D study

    Directory of Open Access Journals (Sweden)

    Soumi Das

    2015-01-01

    Full Text Available Background: Dilated Cardiomyopathy (DCM is a genetic disorder where a heterogeneous group of cardiac-muscles are involved and is characterized by ventricular dilatation, impaired systolic function, reduced myocardial contractility with left ventricular ejection fraction (LVEF less than 40%. Our study aims to report the Demographic, Clinical and Genetic profile of Indian Dilated Cardiomyopathy patients. Methodology: All patients were recruited with prior written informed consent and are of Indian origin. Results: In a total of 80 DCM patients, the prevalence was higher among males. In males, mean age of onset was comparatively less than females. In this cohort, 40% had familial inheritance. Sixty two percent of DCM patients belong to NYHA functional class II with ejection fraction (EF ranging between 21-30% and, around one third of the patients had atrial fibrillation (AF. Genetic screening revealed a novel splice site mutation LMNA (c.639+ G>C and a rare variant MYH7 (c.2769 C>T in a patient and insilico analysis of both variants suggested functional changes that were considered pathogenic. We report 3% and 4% occurance of variants, each in LMNA and MYH7, where as reported frequencies of these genes are 6% LMNA and 4% MYH7. Conclusions: DCM is often familial and all possible candidate genes should be screened to identify mutations. Such type of exercise may help in the identification of mechanistic pathways. Next generation sequencing platforms may play an important role in this respect in future.

  13. NIM Realization of the Gallium Triple Point

    Science.gov (United States)

    Xiaoke, Yan; Ping, Qiu; Yuning, Duan; Yongmei, Qu

    2003-09-01

    In the last three years (1999 to 2001), the gallium triple-point cell has been successfully developed, and much corresponding research has been carried out at the National Institute of Metrology (NIM), Beijing, China. This paper presents the cell design, apparatus and procedure for realizing the gallium triple point, and presents studies on the different freezing methods. The reproducibility is 0.03 mK, and the expanded uncertainty of realization of the gallium triple point is evaluated to be 0.17 mK (p=0.99, k=2.9). Also, the reproducibility of the gallium triple point was compared with that of the triple point of water.

  14. Aetiology of community-acquired neonatal sepsis in low- and middle-income countries

    Directory of Open Access Journals (Sweden)

    Donald Waters

    2011-12-01

    Full Text Available 99% of the approximate 1 million annual neonatal deaths from life-threatening invasive bacterial infections occur in developing countries, at least 50% of which are from home births or community settings. Data concerning aetiology of sepsis in these settings are necessary to inform targeted therapy and devise management guidelines. This review describes and analyses the bacterial aetiology of community-acquired neonatal sepsis in developing countries.

  15. Metastases of Hepatocellular Carcinoma Misdiagnosed as Isolated Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Greco, Assunta; De Masi, Roberto; Orlando, Stefania; Metrangolo, Antonio; Zecca, Vittorio; Morciano, Giancarlo; De Donno, Antonella; Bagordo, Francesco; Piccinni, Giancarlo

    At present, cardiac metastasis of hepatocellular carcinoma is rarely mentioned in the literature. We report a hepatocellular carcinoma patient with cardiac metastasis misdiagnosed as hypertrophic cardiomyopathy in 2011. Two years later, on presentation of syncope, an abnormal ventricular septal size was recorded by ultrasound scan, and was subsequently shown by magnetic resonance imaging to be a tumour lesion. A myocardial biopsy confirmed infiltration of hepatocellular carcinoma. This observation underlines the risk of hepatocellular carcinoma cardiac metastasis, manifested in its infiltrative form as hypertrophic cardiomyopathy. In conclusion, we suggest that the ultrasound appearance of hypertrophic cardiomyopathy in hepatocellular carcinoma patients should be seen as a "red flag" and recommend the introduction of magnetic resonance imaging assessment of transplant candidates.

  16. Takotsubo Cardiomyopathy and Catatonia in the Setting of Benzodiazepine Withdrawal

    Directory of Open Access Journals (Sweden)

    Teng J. Peng

    2016-01-01

    Full Text Available We report two serious and unusual complications of benzodiazepine withdrawal in a single patient: takotsubo cardiomyopathy and catatonia. This 61-year-old female patient was brought to the emergency department with lethargy and within hours had declined into a state of catatonia. Although there was never a complaint of chest pain, ECG showed deep anterior T-wave inversions and cardiac enzymes were elevated. An echocardiogram was consistent with takotsubo cardiomyopathy. She later received 1 mg of midazolam and within minutes had resolution of catatonic symptoms. Careful history revealed that she had omitted her daily dose of lorazepam for 3 days prior to admission. To our knowledge, the case presented herein is the first report of simultaneous catatonia and takotsubo cardiomyopathy in the setting of benzodiazepine withdrawal. The pathogenesis of both conditions is poorly understood but may be indirectly related to the sudden decrease in γ-aminobutyric acid (GABA signaling during benzodiazepine withdrawal.

  17. Spontaneous coronary artery dissection associated with apical hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Tuncer, M.; Gumrukcuoglu, H.A.; Ekim, H.; Gunes, Y.; Simsek, H.

    2010-01-01

    Apical hypertrophic cardiomyopathy (HCM) is a relatively uncommon inherited disease. Spontaneous coronary artery dissection (SCAD) is also uncommonly observed, which often occurs in pregnant or post partum women but is rare in men. This report describes a 38 years old man with apical hypertrophic cardiomyopathy who developed SCAD leading to acute inferior myocardial infarction. After emergent appendectomy operation at another hospital, he was immediately transferred to the Cardiology Department of our hospital due to acute myocardial infarction. He emergently underwent coronary angiography which showed a long dissection involving the right coronary. He underwent an emergent CABG with cardiopulmonary bypass. Postoperative recovery was uneventful and he was discharged. According to our knowledge, no case of spontaneous coronary artery dissection associated with apical hypertrophic cardiomyopathy unrelated to postpartum period or oral contraceptive use has been reported so far. (author)

  18. Simulation of triple coincidences in PET

    International Nuclear Information System (INIS)

    Cal-González, J; Herranz, E; Vicente, E; Udias, J M; Lage, E; Dave, S R; Parot, V; Herraiz, J L; Moore, S C; Park, M-A

    2015-01-01

    Although current PET scanners are designed and optimized to detect double coincidence events, there is a significant amount of triple coincidences in any PET acquisition. Triple coincidences may arise from causes such as: inter-detector scatter (IDS), random triple interactions (R T ), or the detection of prompt gamma rays in coincidence with annihilation photons when non-pure positron-emitting radionuclides are used (β + γ events). Depending on the data acquisition settings of the PET scanner, these triple events are discarded or processed as a set of double coincidences if the energy of the three detected events is within the scanner’s energy window. This latter option introduces noise in the data, as at most, only one of the possible lines-of-response defined by triple interactions corresponds to the line along which the decay occurred. Several novel works have pointed out the possibility of using triple events to increase the sensitivity of PET scanners or to expand PET imaging capabilities by allowing differentiation between radiotracers labeled with non-pure and pure positron-emitting radionuclides. In this work, we extended the Monte Carlo simulator PeneloPET to assess the proportion of triple coincidences in PET acquisitions and to evaluate their possible applications. We validated the results of the simulator against experimental data acquired with a modified version of a commercial preclinical PET/CT scanner, which was enabled to acquire and process triple-coincidence events. We used as figures of merit the energy spectra for double and triple coincidences and the triples-to-doubles ratio for different energy windows and radionuclides. After validation, the simulator was used to predict the relative quantity of triple-coincidence events in two clinical scanners assuming different acquisition settings. Good agreement between simulations and preclinical experiments was found, with differences below 10% for most of the observables considered. For

  19. Reversible Stress Cardiomyopathy Presenting as Acute Coronary Syndrome with Elevated Troponin in the Absence of Regional Wall Motion Abnormalities: A Forme Fruste of Stress Cardiomyopathy?

    Directory of Open Access Journals (Sweden)

    Mahesh Anantha Narayanan

    2014-01-01

    Full Text Available We present a case of reversible stress cardiomyopathy in a surgical patient, described here as a forme fruste due to its atypical features. It is important to recognize such unusual presentation of stress cardiomyopathy that mimics acute coronary syndrome. Stress cardiomyopathy commonly presents as acute coronary syndrome and is characterized by typical or atypical variants of regional wall motion abnormalities. We report a 60-year-old Caucasian male with reversible stress cardiomyopathy following a sternal fracture fixation. Although the patient had several typical features of stress cardiomyopathy including physical stress, ST-segment elevation, elevated cardiac biomarkers and normal epicardial coronaries, there were few features that were atypical, including unusual age, gender, absence of regional wall motion abnormalities, high lateral ST elevation, and high troponin-ejection fraction product. In conclusion, this could represent a forme fruste of stress cardiomyopathy.

  20. [Congestive cardiomyopathy in addiction to clobenzorex, an anorexigenic drug].

    Science.gov (United States)

    Cornaert, P; Camblin, J; Graux, P; Anaye, B; Dutoit, A; Croccel, L

    1986-04-01

    Cardiac failure caused by high doses of amphetamine-like drugs is rare. We report a case of decompensated congestive cardiomyopathy occurring in a 29 year old woman addicted to clobenzorex (Dinintel). This patient had been taking 5 to 7 capsules per day for 5 years. No other cause of cardiac failure was detected. A rapid improvement was obtained by digitalis and diuretic therapy; no further episodes of cardiac failure were observed after one year. However, the drug could not be completely withdrawn and echocardiography has shown increasing left ventricular dilatation. The possible mechanisms of amphetamine induced myocardial toxicity are discussed and the analogy with the group of adrenergic cardiomyopathies is underlined.

  1. Takotsubo Cardiomyopathy and Psychiatric Illness: Redefining the Relationship

    Directory of Open Access Journals (Sweden)

    Hannah Masoud

    2016-01-01

    Full Text Available Physicians who encounter patients in the emergency department with chest pain, palpitations, or shortness of breath may often find it difficult to differentiate diagnosis of panic attacks from acute coronary syndrome or Takotsubo Cardiomyopathy. Redefining and understanding the pathophysiological relationship of psychiatric illness including anxiety, depression, or panic attacks and Takotsubo Cardiomyopathy may help clinicians implement a more effective and beneficial model of care for this affliction that is being found to be increasingly more common in today’s age.

  2. Dilated cardiomyopathy and severe heart failure. An update for pediatricians.

    Science.gov (United States)

    Caviedes Bottner, Paola; Córdova Fernández, Tamara; Larraín Valenzuela, Marcos; Cruces Romero Presentación de Casos Clínicos, Pablo

    2018-06-01

    Dilated cardiomyopathy is the main cause of heart failure leading to heart transplant. Its prognosis is variable and depends on the etiology, the patient's age at onset, and the severity. The management of dilated cardiomyopathy is aimed at minimizing symptoms and preventing disease progression; it requires a comprehensive screening for comorbidities and the prevention of complications to improve the overall status of these children and mitigate their prognosis. Here we present a review oriented at the multidisciplinary management that pediatricians should consider when seeing these patients. Sociedad Argentina de Pediatría.

  3. Inferior ST-Elevation Myocardial Infarction Associated with Takotsubo Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Oliver Koeth

    2010-01-01

    Full Text Available Takotsubo cardiomyopathy (TCM is usually characterized by transient left ventricular apical ballooning. Due to the clinical symptoms which include chest pain, electrocardiographic changes, and elevated myocardial markers, Takotsubo cardiomyopathy is frequently mimicking ST-elevation myocardial infarction in the absence of a significant coronary artery disease. Otherwise an acute occlusion of the left anterior descending coronary artery can produce a typical Takotsubo contraction pattern. ST-elevation myocardial infarction (STEMI is frequently associated with emotional stress, but to date no cases of STEMI triggering TCM have been reported. We describe a case of a female patient with inferior ST-elevation myocardial infarction complicated by TCM.

  4. A Rare Occurance with Epidermolysis Bullosa Disease: Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Derya Cimen

    2014-02-01

    Full Text Available Epidermolysis bullosa is a congenital and herediter vesiculobullous disease. Dystrophic form of this disease is characterized by severe malnutrition, failure to thrive, adhesions at fingers, joint contractures related with the formation of scar tissues, carcinoma of the skin, anemia, hipoalbuminemia, wound enfections and sepsis. Rarely, mortal dilated cardiomyopathy may occur in patients. In this report we present a 13 year-old pediatric patient with dilated cardiomyopathy, clinically diagnosed with Epidermolysis bullosa as well as a review of recent related literature.

  5. Myocardial perfusion imaging in hyperthrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Moorin, B.

    1998-01-01

    Full text: Patients with Hyperthrophic Cardiomyopathy (HCM) frequently suffer from syncope and cardiac arrest which may lead to sudden death. This is most often caused by ventricular arrhythmia's in adults, however in young patients the mechanisms are thought to be different. Ischaemia may play a significant role even in young asymptomatic HCM patients. The mechanisms of ischaemic development in HCM differ from those in the 'normal' myocardium (Due to intramural small vessel abnormalities and abnormal myocellular architecture). In HCM the coronary microcirculation is most often affected and massive hypertrophy means more energy is required to promote contraction thus increasing oxygen demand and compounding the effects of any ischaemic changes. A case of a 12 year old HCM patient is presented who has symptoms of syncope associated with exercise whose mother died suddenly of cardiac arrest developed from HCM. A myocardial perfusion rest/stress study was undertaken to detect any underlying myocardial ischaemia. Myocardial perfusion scintigraphy demonstrates any reduction in the microcirculation in addition to that present in the macrocirculation, unlike angiography which will only detect the latter. In this case the scan clearly showed evidence of ischaemia in the lateral wall and this may be an explanation for her episodes of syncope. We suggest an algorithm or the routine work-up of young patients with HCM which makes aggressive use of myocardial perfusion imaging to detect ischaemic changes. This may identify patients who are at higher risk and will assist with treatment decisions. We feel myocardial perfusion scintigraphy is a sensitive non-invasive accurate method of detecting microcirculatory ischaemia and is thus invaluable in HCM patients

  6. Intraventricular vortex properties in nonischemic dilated cardiomyopathy

    Science.gov (United States)

    Benito, Yolanda; Alhama, Marta; Yotti, Raquel; Martínez-Legazpi, Pablo; del Villar, Candelas Pérez; Pérez-David, Esther; González-Mansilla, Ana; Santa-Marta, Cristina; Barrio, Alicia; Fernández-Avilés, Francisco; del Álamo, Juan C.

    2014-01-01

    Vortices may have a role in optimizing the mechanical efficiency and blood mixing of the left ventricle (LV). We aimed to characterize the size, position, circulation, and kinetic energy (KE) of LV main vortex cores in patients with nonischemic dilated cardiomyopathy (NIDCM) and analyze their physiological correlates. We used digital processing of color-Doppler images to study flow evolution in 61 patients with NIDCM and 61 age-matched control subjects. Vortex features showed a characteristic biphasic temporal course during diastole. Because late filling contributed significantly to flow entrainment, vortex KE reached its maximum at the time of the peak A wave, storing 26 ± 20% of total KE delivered by inflow (range: 1–74%). Patients with NIDCM showed larger and stronger vortices than control subjects (circulation: 0.008 ± 0.007 vs. 0.006 ± 0.005 m2/s, respectively, P = 0.02; KE: 7 ± 8 vs. 5 ± 5 mJ/m, P = 0.04), even when corrected for LV size. This helped confining the filling jet in the dilated ventricle. The vortex Reynolds number was also higher in the NIDCM group. By multivariate analysis, vortex KE was related to the KE generated by inflow and to chamber short-axis diameter. In 21 patients studied head to head, Doppler measurements of circulation and KE closely correlated with phase-contract magnetic resonance values (intraclass correlation coefficient = 0.82 and 0.76, respectively). Thus, the biphasic nature of filling determines normal vortex physiology. Vortex formation is exaggerated in patients with NIDCM due to chamber remodeling, and enlarged vortices are helpful for ameliorating convective pressure losses and facilitating transport. These findings can be accurately studied using ultrasound. PMID:24414062

  7. Association Between Hypertensive Disorders of Pregnancy and Later Risk of Cardiomyopathy

    DEFF Research Database (Denmark)

    Behrens, Ida; Basit, Saima; Lykke, Jacob Alexander

    2016-01-01

    disorder of pregnancy. During follow-up, 1577 women (mean age, 48.5 years at cardiomyopathy diagnosis; 2.6% with multiple pregnancies) developed cardiomyopathy. Compared with women with normotensive pregnancies (18,211,603 person-years of follow-up; n = 1408 cardiomyopathy events, 7.7/100,000 person......-years [95% CI, 7.3-8.2]), women with a history of hypertensive disorders of pregnancy had significantly increased rates of cardiomyopathy (in 173,062 person-years of follow-up among women with severe preeclampsia, n = 27 cardiomyopathy events; 15.6/100,000 person-years [95% CI, 10.7-22.7]; adjusted hazard......IMPORTANCE: Women with hypertensive disorders of pregnancy, preeclampsia in particular, have an increased risk of cardiomyopathy during the peripartum period. Whether hypertensive disorders of pregnancy are also associated with cardiomyopathy later in life is unknown. OBJECTIVE: To determine...

  8. Application of radionuclide techniques in evaluation of dilated cardiomyopathy and ischemic cardiomyopathy

    International Nuclear Information System (INIS)

    Tian Yueqin; Liu Xiujie; Shi Rongfang

    2000-01-01

    Objective: To assess the clinical significance of radionuclide techniques in differentiating dilated cardiomyopathy (DCM) from ischemic cardiomyopathy (CAD-CM). Methods: 28 patients (pts) with DCM and 55 pts with CAD-CM were studied. All pts underwent 99 Tc m -MIBI myocardial perfusion SPECT and 18 F-FDG myocardial metabolic PET. 73 pts had 99 Tc m -RBC radionuclide ventriculography and 68 pts had coronary angiography. Results: 23 pts (82%) with DCM showed perfusion abnormalities with mild and not segmental distribution. 52 pts (95%) with CAD-CM showed perfusion abnormalities that distributed along the coronary vessel territories. Perfusion defects were found in 4 pts (14%) with DCM and 45 pts (82%) with CAD-CM (P<0.01). The average perfusion score was 4.5 +- 2.6 in DCM and 9.5 +- 2.9 in CAD-CM, the area of perfusion diminished uptake was significantly smaller in DCM than in CAD-CM (P < 0.001). 2 pts with DCM and 18 pts with CAD-CM had metabolic defect. The patterns of perfusion/metabolic imaging showed mismatch in most pts with CAD-CM but match in pts with DCM. The LVEF in pts with DCM and CAD-CM was decreased but no significant difference between DCM and CAD-CM was observed. The RVEF in pts with DCM was significantly lower than that in pts with CAD-CM (32.4% +- 13.9% vs 40.9% +- 15.4%, P < 0.05). Conclusions: The radionuclide techniques showed to be helpful for distinguishing DCM from CAD-CM. The discriminate analysis revealed that segmental perfusion abnormality and RVEF were the most important factors for differentiation of DCM from CAD-CM

  9. Theoretical investigation of compounds with triple bonds

    International Nuclear Information System (INIS)

    Devarajan, Deepa

    2011-01-01

    In this thesis, compounds with potential triple-bonding character involving the heavier main-group elements, Group 4 transition metals, and the actinides uranium and thorium were studied by using molecular quantum mechanics. The triple bonds are described in terms of the individual orbital contributions (σ, π parallel , and π perpendicular to ), involving electron-sharing covalent or donor-acceptor interactions between the orbitals of two atoms or fragments. Energy decomposition, natural bond orbital, and atoms in molecules analyses were used for the bonding analysis of the triple bonds. The results of this thesis suggest that the triple-bonding character between the heavier elements of the periodic table is important and worth further study and exploration.

  10. The time domain triple probe method

    International Nuclear Information System (INIS)

    Meier, M.A.; Hallock, G.A.; Tsui, H.Y.W.; Bengtson, R.D.

    1994-01-01

    A new Langmuir probe technique based on the triple probe method is being developed to provide simultaneous measurement of plasma temperature, potential, and density with the temporal and spatial resolution required to accurately characterize plasma turbulence. When the conventional triple probe method is used in an inhomogeneous plasma, local differences in the plasma measured at each probe introduce significant error in the estimation of turbulence parameters. The Time Domain Triple Probe method (TDTP) uses high speed switching of Langmuir probe potential, rather than spatially separated probes, to gather the triple probe information thus avoiding these errors. Analysis indicates that plasma response times and recent electronics technology meet the requirements to implement the TDTP method. Data reduction techniques of TDTP data are to include linear and higher order correlation analysis to estimate fluctuation induced particle and thermal transport, as well as energy relationships between temperature, density, and potential fluctuations

  11. Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype

    Directory of Open Access Journals (Sweden)

    Takeshi Tsuda

    2017-09-01

    Full Text Available Duchenne muscular dystrophy (DMD, Becker muscular dystrophy (BMD, and X-linked dilated cardiomyopathy (XL-DCM consist of a unique clinical entity, the dystrophinopathies, which are due to variable mutations in the dystrophin gene. Dilated cardiomyopathy (DCM is a common complication of dystrophinopathies, but the onset, progression, and severity of heart disease differ among these subgroups. Extensive molecular genetic studies have been conducted to assess genotype-phenotype correlation in DMD, BMD, and XL-DCM to understand the underlying mechanisms of these diseases, but the results are not always conclusive, suggesting the involvement of complex multi-layers of pathological processes that generate the final clinical phenotype. Dystrophin protein is a part of dystrophin-glycoprotein complex (DGC that is localized in skeletal muscles, myocardium, smooth muscles, and neuronal tissues. Diversity of cardiac phenotype in dystrophinopathies suggests multiple layers of pathogenetic mechanisms in forming dystrophic cardiomyopathy. In this review article, we review the complex molecular interactions involving the pathogenesis of dystrophic cardiomyopathy, including primary gene mutations and loss of structural integrity, secondary cellular responses, and certain epigenetic and other factors that modulate gene expressions. Involvement of epigenetic gene regulation appears to lead to specific cardiac phenotypes in dystrophic hearts.

  12. Penetrance of Hypertrophic Cardiomyopathy in Children Who Are Mutation Positive

    NARCIS (Netherlands)

    Vermeer, Alexa M. C.; Clur, Sally-Ann B.; Blom, Nico A.; Wilde, Arthur A. M.; Christiaans, Imke

    2017-01-01

    Objectives To investigate the presence of hypertrophic cardiomyopathy (HCM) at first cardiac evaluation and during follow-up and cardiac events in predictively tested children who are mutation positive. Study design The study included 119 predictively tested children who were mutation positive, with

  13. CARDIOMYOPATHIE DU POSTPARTUM: A propos de cinq cas au ...

    African Journals Online (AJOL)

    The main presenting symptom was congestive heart failure with acute pulmonary edema. In all cases, the chest x-ray showed ... The treatment administered to these patients included bed rest, salt restriction, digitalics, ... The main issues concerning the management of postpartum cardiomyopathy are raised in this article.

  14. Psychological Features of Takotsubo Cardiomyopathy: Report of Four Cases.

    Science.gov (United States)

    Jenab, Yaser; Hashemi, Seyedeh Roghaieh; Ghaffari-Marandi, Neda; Zafarghandi, Hoda; Shahmansouri, Nazila

    2017-04-01

    Takotsubo or stress-induced cardiomyopathy is a cardiomyopathy in which the patient has a sudden onset, reversible left ventricular systolic dysfunction without any significant coronary artery disease. Four women, who were at a mean age of 64 years and suffered from chest pain exacerbated by emotional stress, were admitted as cases of acute coronary syndrome and were completely evaluated through precise history taking, physical examination, and ECG. Coronary angiography or coronary multidetector computed tomography was used to exclude significant coronary artery disease. In these patients with confirmed Takotsubo cardiomyopathy, in addition to the Diagnostic and Statistical Manual of the American Psychiatric Association (DSM-IV) criteria, a 71-item form of the Minnesota Multiphasic Personality Inventory (MMPI)-Mini-Mult-was employed for psychological assessment. The main common elevated scale was hypochondriasis. Individuals with high scores on this scale are obsessed with themselves, especially in regard to their body, and often use their disease symptoms in order to manipulate others. They are mainly passive aggressive, critical, and demanding, which stems from their lack of effective verbal abilities as a means of communication, specifically when it comes to anger or hostility expression. To the best of our knowledge, there is no available study evaluating patients with Takotsubo cardiomyopathy using the Mini-Mult questionnaire for psychological assessment.

  15. Early molecular events in the development of the diabetic cardiomyopathy.

    NARCIS (Netherlands)

    Monkemann, H.; Vriese, A.S. de; Blom, H.J.; Kluijtmans, L.A.J.; Heil, S.G.; Schild, H.H.; Golubnitschaja, O.

    2002-01-01

    Oxidative damage to DNA has been well documented in cardiac cells isolated from diabetic patients and rats with streptozotocin-induced diabetes mellitus (DM). This study evaluates possible molecular mechanisms for early events in the development of DM-induced cardiomyopathy. Methods: To analyze the

  16. Takotsubo cardiomyopathy: A known unknown foe of asthma.

    Science.gov (United States)

    Kotsiou, Ourania S; Douras, Alexandros; Makris, Demosthenes; Mpaka, Nikoleta; Gourgoulianis, Konstantinos I

    2017-10-01

    Patients with uncontrolled asthma are at a greater risk of asthma attacks requiring emergency room visits or hospital admissions. Takotsubo cardiomyopathy is potentially a significant complication in a course of status asthmaticus. We describe a 43-year-old female patient who presented with status asthmaticus that was further complicated with takotsubo cardiomyopathy. Recognizing apical ballooning syndrome is challenging in patients with a history of respiratory disease because the symptoms of the last entity may complicate the diagnostic approach. It is difficult to distinguish clinically apical ballooning syndrome from the acute airway exacerbation itself. Both asthma and takotsubo cardiomyopathy share the same clinical presentation with dyspnea and chest tightness. In our patient, the electrocardiographic abnormalities, the rapidly reversible distinctive characteristics of echocardiography, and the modest elevation of serum cardiac biomarkers levels, in combination with the presence of a stress trigger (severe asthma attack), strongly supported the diagnosis of broken heart syndrome. Clinicians should re-evaluate asthma management and be aware of the complications associated with asthma attacks such as stress-induced cardiomyopathy.

  17. Characteristic adaptations of the extracellular matrix in dilated cardiomyopathy

    NARCIS (Netherlands)

    Louzao-Martinez, Laura; Vink, Aryan; Harakalova, Magdalena; Asselbergs, Folkert W; Verhaar, Marianne C; Cheng, Caroline

    2016-01-01

    Dilated cardiomyopathy (DCM) is a relatively common heart muscle disease characterized by the dilation and thinning of the left ventricle accompanied with left ventricular systolic dysfunction. Myocardial fibrosis is a major feature in DCM and therefore it is inevitable that corresponding

  18. Molecular genetics of dilated cardiomyopathy in the Dobermann dog

    NARCIS (Netherlands)

    Stabej, Polona

    2005-01-01

    Canine dilated cardiomyopathy (DCM) is a disease of the myocardium associated with dilatation and impaired contraction of the ventricles. It primarily affects large and giant breed dogs with Dobermanns being one of the most frequently affected. The high prevalence of DCM in specific breeds suggests

  19. Cardiac resynchronization therapy in a patient with amyloid cardiomyopathy.

    Science.gov (United States)

    Zizek, David; Cvijić, Marta; Zupan, Igor

    2013-06-01

    Cardiac involvement in systemic light chain amyloidosis carries poor prognosis. Amyloid deposition in the myocardium can alter regional left ventricular contraction and cause dyssynchrony. Cardiac resynchronization therapy (CRT) is an effective treatment strategy for patients with advanced heart failure and echocardiographic dyssynchrony. We report a clinical and echocardiographic response of a patient with amyloid cardiomyopathy, treated with a combination of chemotherapy and CRT.

  20. Familial occurrence of isolated non-compaction cardiomyopathy

    NARCIS (Netherlands)

    Lorsheyd, Anouk; Cramer, Maarten-Jan M.; Velthuis, Birgitta K.; Vonken, Evert-Jan P.; van der Smagt, Jasper; van Tintelen, Peter; Hauer, Richard N. W.

    2006-01-01

    Background and aims: Isolated left ventricular non-compaction cardiomyopathy (LVNC) may have an autosomal dominant or X-linked recessive inheritance. We focus on the familial occurrence of LVNC after misdiagnosing this disorder in symptomatic patients in two families. After identification of the

  1. Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein

    Czech Academy of Sciences Publication Activity Database

    Čapek, P.; Vondrášek, Jiří; Škvor, J.; Brdička, R.

    2011-01-01

    Roč. 52, č. 3 (2011), s. 384-391 ISSN 0353-9504 Grant - others:GA MŠk(CZ) LN00B107 Program:LN Institutional research plan: CEZ:AV0Z40550506 Keywords : myosin heavy chain * homology modeling * molecular simulation * inherited cardiomyopathies Subject RIV: CE - Biochemistry Impact factor: 1.796, year: 2011

  2. [Plasma selenium and peripartum cardiomyopathy in Bamako, Mali].

    Science.gov (United States)

    Cénac, A; Touré, K; Diarra, M B; Sergeant, C; Jobic, Y; Sanogo, K; Dembele, M; Fayol, V; Simonoff, M

    2004-01-01

    Peripartum heart failure due to unexplained dilated cardiomyopathy is a common disorder as Savannak-Sahelian Africa. One of the many suspected risk factors identified is selenium deficiency. The purpose of this study was to measure plasma selenium levels in patients with peripartum heart failure due to cardiomyopathy in Bamako, Republic of Mali and compare data with healthy Sahalian women with the same obstetrical status. Plasma selenium was measured in a patient group consisting of 28 Malian women presenting peripartum heart failure and in a control group of 28 healthy breast-feeding Nigerien women of comparable age. The criteria for matching the two groups was parity (similar number of deliveries) since multiparity is a risk factor for peripartum cardiomyopathy. The Wilcoxon test (nonparametric) was used to compare the 2 groups considering up value < 0.05 as significant. Plasma selenium was significantly lower in patients from Mali than in controls from Niger (65 +/- 17 ng/ml vs. 78 +/- 17 ng/ml, p = 0.01). The results of this study showing lower plasma selenium in Bamako patients with peripartum cardiomyopathy than in a matching healthy control population confirms the previous data from the Niamey study.

  3. Arrhythmogenic right ventricular cardiomyopathy in a patient with schizophrenia

    OpenAIRE

    Kawasaki, Kenta; Miyaji, Kotaro; Kodera, Satoshi; Suzuki, Yoshio; Kanda, Junji; Ikeda, Masayuki

    2015-01-01

    Key Clinical Message People with schizophrenia are at greater risk of cardiovascular morbidity and mortality than the general population. Arrhythmogenic right ventricular cardiomyopathy is a recognized cause of sudden cardiac death in young people. This report discusses the necessity for close cardiac evaluation to reduce incidence of sudden death in people with schizophrenia.

  4. Hypertrophic cardiomyopathy in infants: clinical features and natural history

    International Nuclear Information System (INIS)

    Maron, B.J.; Tajik, A.J.; Ruttenberg, H.D.; Graham, T.P.; Atwood, G.F.; Victorica, B.E.; Lie, J.T.; Roberts, W.C.

    1982-01-01

    The clinical and morphologic features of hypertrophic cardiomyopathy in 20 patients recognized as having cardiac disease in the first year of life are described. Fourteen of these 20 infants were initially suspected of having heart disease solely because a heart murmur was identified. However, the infants showed a variety of clinical findings, including signs of marked congestive heart failure (in the presence of nondilated ventricular cavities and normal or increased left ventricular contractility) and substantial cardiac enlargement on chest radiograph. Other findings were markedly different from those usually present in older children and adults with hypertrophic cardiomyopathy (e.g., right ventricular hypertrophy on the ECG and cyanosis). Consequently, in 14 infants, the initial clinical diagnosis was congenital cardiac malformation other than hypertrophic cardiomyopathy. The clinical course was variable in these patients, but the onset of marked congestive heart failure in the first year of life appeared to be an unfavorable prognostic sign; nine of the 11 infants with congestive heart failure died within the first year of life. In infants with hypertrophic cardiomyopathy, unlike older children and adults with this condition, sudden death was less common (two patients) than death due to progressive congestive heart failure

  5. Pheochromocytoma presenting as takotsubo-like cardiomyopathy following delivery.

    Science.gov (United States)

    Jóźwik-Plebanek, Katarzyna; Pęczkowska, Mariola; Klisiewicz, Anna; Wrzesiński, Kazimierz; Prejbisz, Aleksander; Niewada, Maciej; Kabat, Marek; Szperl, Małgorzata; Eisenhofer, Graeme; Lenders, Jacques W; Januszewicz, Andrzej

    2014-12-01

    Diagnosis of pheochromocytoma during pregnancy can be difficult, and the tumor carries an unfavorable prognosis if not diagnosed and treated in a timely manner. To present a case of Takotsubo-like cardiomyopathy characterized by transient left ventricular apical ballooning due to pheochromocytoma following delivery. A few hours after Caesarean section, a 32-year-old Caucasian female presented with pulmonary edema followed by cardiac arrest with echocardiographic and ventriculographic evidence of reversible acute myocardial failure characteristic of Takotsubo-like cardiomyopathy. A previously unrecognized adrenal pheochromocytoma was found during her clinical work-up. Left ventricle (LV) function normalized after surgical removal of the tumor, which was carried out after implementing an alpha-adrenoreceptor blockade. Hemorrhagic necrosis of the pheochromocytoma was seen on histopathologic analysis; this may have triggered the sequence of events leading to the development of Takotsubo-like cardiomyopathy and hemodynamic collapse. To the best of our knowledge, this is the first reported case of Takotsubo-like cardiomyopathy related to pheochromocytoma following delivery. This emphasizes the increased cardiovascular risk if pheochromocytoma is not diagnosed and treated in a timely manner, especially during pregnancy.

  6. Shifting white pox aetiologies affecting Acropora palmata in the Florida Keys, 1994-2014.

    Science.gov (United States)

    Sutherland, Kathryn P; Berry, Brett; Park, Andrew; Kemp, Dustin W; Kemp, Keri M; Lipp, Erin K; Porter, James W

    2016-03-05

    We propose 'the moving target hypothesis' to describe the aetiology of a contemporary coral disease that differs from that of its historical disease state. Hitting the target with coral disease aetiology is a complex pursuit that requires understanding of host and environment, and may lack a single pathogen solution. White pox disease (WPX) affects the Caribbean coral Acropora palmata. Acroporid serratiosis is a form of WPX for which the bacterial pathogen (Serratia marcescens) has been established. We used long-term (1994-2014) photographic monitoring to evaluate historical and contemporary epizootiology and aetiology of WPX affecting A. palmata at eight reefs in the Florida Keys. Ranges of WPX prevalence over time (0-71.4%) were comparable for the duration of the 20-year study. Whole colony mortality and disease severity were high in historical (1994-2004), and low in contemporary (2008-2014), outbreaks of WPX. Acroporid serratiosis was diagnosed for some historical (1999, 2003) and contemporary (2012, 2013) outbreaks, but this form of WPX was not confirmed for all WPX cases. Our results serve as a context for considering aetiology as a moving target for WPX and other coral diseases for which pathogens are established and/or candidate pathogens are identified. Coral aetiology investigations completed to date suggest that changes in pathogen, host and/or environment alter the disease state and complicate diagnosis. © 2016 The Author(s).

  7. Shifting white pox aetiologies affecting Acropora palmata in the Florida Keys, 1994–2014

    Science.gov (United States)

    Berry, Brett; Park, Andrew; Kemp, Dustin W.; Kemp, Keri M.; Lipp, Erin K.; Porter, James W.

    2016-01-01

    We propose ‘the moving target hypothesis’ to describe the aetiology of a contemporary coral disease that differs from that of its historical disease state. Hitting the target with coral disease aetiology is a complex pursuit that requires understanding of host and environment, and may lack a single pathogen solution. White pox disease (WPX) affects the Caribbean coral Acropora palmata. Acroporid serratiosis is a form of WPX for which the bacterial pathogen (Serratia marcescens) has been established. We used long-term (1994–2014) photographic monitoring to evaluate historical and contemporary epizootiology and aetiology of WPX affecting A. palmata at eight reefs in the Florida Keys. Ranges of WPX prevalence over time (0–71.4%) were comparable for the duration of the 20-year study. Whole colony mortality and disease severity were high in historical (1994–2004), and low in contemporary (2008–2014), outbreaks of WPX. Acroporid serratiosis was diagnosed for some historical (1999, 2003) and contemporary (2012, 2013) outbreaks, but this form of WPX was not confirmed for all WPX cases. Our results serve as a context for considering aetiology as a moving target for WPX and other coral diseases for which pathogens are established and/or candidate pathogens are identified. Coral aetiology investigations completed to date suggest that changes in pathogen, host and/or environment alter the disease state and complicate diagnosis. PMID:26880837

  8. About the Triple A. Argentina 1973 - 1976

    OpenAIRE

    Rostica, Julieta

    2011-01-01

    On May 25, 1973, Peronism returned to govern Argentina after about two decades of prohibition and political persecution. After its establishment, certain crimes began to be signed with “AAA”. The Triple A adopted the particularity of disappearing with the coup on March 24 1976. Why could this organization only exist in a democracy erected in the middle of two military dictatorships? Why did it exist during the very wished Peronist government? The article offers an approach to the Triple A, th...

  9. Left ventricular function in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Takahashi, Hiromi; Yamaguchi, Ryutaro; Ifuku, Masayasu

    1985-01-01

    The present study was to investigate of left ventricular (LV) function during exercise in 26 patients with hypertrophic cardiomyopathy(HCM) usingTc-99m equilibrium angiocardiography, and to elucidate the mechanism of impaired functional reserve during exercise. In patients with HCM, LV ejection fraction decreased from 65 ± 8 (mean ± SD) % at rest to 59 ± 18 % at peak exercise, in contrast to an increase among controls (from 56 ± 9 % to 64 ± 9 %). As compared with resting values, cardiac output increased to 168 ± 24 % at peak exercise in HCM, but the increase was significantly less than that in controls (215 ± 47 %). Stroke volume decreased gradually to 83 ± 16 % during exercise in HCM, while it increased to 114 ± 10 % at an exercise level of half intensity, and it decreased slightly to 106 ± 16 % at peak exercise. LV end-systolic volume decreased among controls to 78 ± 27 % at peak exercise, but remained unchanged in HCM (118 ± 58 %). An increase in peak ejection rate at peak exercise was less in HCM than in controls (143 ± 26 % vs 170 ± 42 %). No significant differences were observed between the two groups concerning changes in indices of LV diastolic function including LV end-diastolic volume, peak filling rate or 1/3 filling rate during exercise. In the analysis of LV function curves, pulmonary arterial diastolic pressure increased to a greater extent in HCM than in controls (19 ± 6 mmHg vs 11 ± 6 mmHg); whereas, an increase in the stroke work index was less in HCM (80 ± 26 g.m/m 2 /beat vs 121 ± 21 g.m/m 2 /beat) at peak exercise. Thus, the LV function curve shifted downward and to the right in patients with HCM. The above findings indicate that LV functional reserve during exercise is impaired, especially as to systolic function in patients with HCM, while deterioration of diastolic function may be partly compromised by elevated filling pressure. (J.P.N.)

  10. Clinical Features and Echocardiographic Findings in Children with Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Cristina Blesneac

    2013-12-01

    Full Text Available Background: Hypertrophic cardiomyopathy, one of the most common inherited cardiomyopathies, is a heterogeneous disease resulting from sarcomeric protein mutations, with an incidence in the adult population of 1:500. Current information on the epidemiology and outcomes of this disease in children is limited. Methods: Thirty-four children diagnosed with hypertrophic cardiomyopathy in the Pediatric Cardiology Department from Tîrgu Mureș were evaluated concerning familial and personal history, clinical, paraclinical and therapeutic aspects. Hypertrophic cardiomyopathy was defined by the presence of a hypertrophied, non-dilated ventricle, in the absence of a cardiac or systemic disease that could produce ventricular hypertrophy. Results: The youngest diagnosed child was a neonate, a total of 10 patients being diagnosed until 1 year of age. In 6 cases a positive familial history was found. Noonan syndrome was found in 2 cases. Only 21 patients were symptomatic, the predominant symptoms being shortness of breath on exertion with exercise limitations. Left ventricular outflow tract obstruction was present in 21 cases (61.7%. Twenty-four patients were on β-blocking therapy, while 4 patients underwent septal myectomy. Conclusions: Hypertrophic cardiomyopathy is a heterogeneous disorder in terms of evolution, age of onset, type and extent of hypertrophy, and the risk of sudden death. It can affect children of any age. There is a need for a complex evaluation, including familial and personal anamnesis, clinical examination, electrocardiogram and echocardiography of all patients. It is highly important to develop screening strategies, including genetic testing, for an early diagnosis, especially in asymptomatic patients with a positive familial background

  11. Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice

    DEFF Research Database (Denmark)

    Pinto, Yigal M; Elliott, Perry M; Arbustini, Eloisa

    2016-01-01

    In this paper the Working Group on Myocardial and Pericardial Disease proposes a revised definition of dilated cardiomyopathy (DCM) in an attempt to bridge the gap between our recent understanding of the disease spectrum and its clinical presentation in relatives, which is key for early diagnosis...

  12. Sonography of gallstones and biliary dilatation without a visible aetiology: The infrequency of obstructing choledocholithiasis

    International Nuclear Information System (INIS)

    Cabrera, O.; Van Sonnenberg, E.; Wittich, G.R.; Leopold, G.R.; Gosink, U.B.; Bowen, J.S.; California Univ., San Diego, La Jolla

    1988-01-01

    This paper describes 50 consecutive patients who sonographically had gallbladder stones and dilated bile ducts, but no visible aetiology for the dilatation. We reviewed these cases to determine the frequency of choledocholithiasis in this setting. Common duct stones caused obstruction in only 36% of these patients. Other aetiologies included strictures due to chronic pancreatitis or prior stone passage in 24% of the patients, and malignant obstruction in 16%. In 24% of the patients, no cause was found for biliary dilatation: common duct stones or obstructing tumours were excluded in the group. Since aetiologies other than stones are likely in a majority of cases, further preoperative workup (CT, percutaneous transhepatic cholangiography, ERCP) or intraoperative cholangiography (if the patient requires urgent cholecystectomy) is indicated. The additional studies should provide a diagnosis, help determine whether or not the common duct should be explored, or avoid unnecessary operation in case of incurable malignancy. (orig.)

  13. Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010.

    Science.gov (United States)

    López-Pisón, J; García-Jiménez, M C; Monge-Galindo, L; Lafuente-Hidalgo, M; Pérez-Delgado, R; García-Oguiza, A; Peña-Segura, J L

    2014-09-01

    Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed. We review our experience with determining aetiological diagnoses for children with GDD/ID who were monitored by the paediatric neurology unit over the 5-year period between 2006 and 2010. During the study period, 995 children with GDD/ID were monitored. An aetiological diagnosis was established for 309 patients (31%), but not in 686 (69%), despite completing numerous tests. A genetic cause was identified in 142 cases (46% of the total aetiologies established), broken down as 118 cases of genetic encephalopathy and 24 of metabolic hereditary diseases. Our data seem to indicate that diagnosis is easier when GDD/ID is associated with cerebral palsy, epilepsy, infantile spasms/West syndrome, or visual deficit, but more difficult in cases of autism spectrum disorders. Genetic studies provide an increasing number of aetiological diagnoses, and they are also becoming the first step in diagnostic studies. Array CGH (microarray-based comparative genomic hybridisation) is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID. The cost-effectiveness of complementary studies seems to be low if there are no clinically suspected entities. However, even in the absence of treatment, aetiological diagnosis is always important in order to provide genetic counselling and possible prenatal diagnosis, resolve family (and doctors') queries, and halt further diagnostic studies. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  14. Multiple aneurysm of unknown aetiology in childhood: Complications and diagnostic possibilities

    International Nuclear Information System (INIS)

    Lanfermann, H.; Benz-Bohm, G.; Schaper, J.; Gross-Fengels, W.

    1990-01-01

    A 6,5-year old boy with already known multiple aneurysm of all major arteries presented with acute abdominal pain. As demonstrated by ultrasound a big aneurysm of the left renal artery thrombosed in the course of three days. As a result, the left kidney developed severe ischaemia. Although computed tomography and scintigraphy were applied, a plan for a definitive therapeutic procedere could be established only by arterial angiography. Both Ehlers-Danlos' syndrome and Kawasaki's syndrome were excluded. There were no facts suggesting an infective aetiology. Four other cases with multiple aneurysms of unknown aetiology in childhood have so far been described in literature. (orig.) [de

  15. Echocardiography Differences Between Athlete's Heart Hearth and Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Kreso, Amir; Barakovic, Fahir; Medjedovic, Senad; Halilbasic, Amila; Klepic, Muhamed

    2015-10-01

    Among long term athletes there is always present hypertrophy of the left ventricle walls as well as increased cardiac mass. These changes are the result of the heart muscle adaptation to load during the years of training, which should not be considered as pathology. In people suffering from hypertrophic cardiomyopathy (HCM), there is also present hypertrophy of the left ventricle walls and increased mass of the heart, but these changes are the result of pathological changes in the heart caused by a genetic predisposition for the development HCM of. Differences between myocardial hypertrophy in athletes and HCM are not clearly differentiated and there are always dilemmas between pathological and physiological hypertrophy. The goal of the study is to determine and compare the echocardiographic cardiac parameters of longtime athletes to patients with hypertrophic cardiomyopathy. The study included 60 subjects divided into two groups: active athletes and people with hypertrophic cardiomyopathy. Mean values of IVSd recorded in GB is IVSd=17.5 mm (n=20, 95% CI, 16.00-19.00 mm), while a significantly smaller mean value is recorded in GA, IVSd=10.0 mm (n=40, 95% CI, 9.00-11.00 mm). The mean value of the left ventricle in diastole (LVDd) recorded in the GA is LVDd=51 mm (n=40; 95% CI, 48.00 to 52.00 mm), while in the group with hypertrophic cardiomyopathy (GB) mean LVDd value is 42 mm (n=20; 95% CI, 40.00 to 48.00 mm). The mean value of the rear wall of the left ventricle (LVPWd) recorded in the GA is LVDd=10 mm (n=40; 95% CI, 9.00-10.00 mm) while in the group with hypertrophic cardiomyopathy (GB) mean LVDd is 14 mm (n=20; 95% CI, 12.00 to 16.00 mm). The mean of the left ventricle during systole (LVSD) observed in GA is LVSD=34 mm (n=40; 95% CI, 32.00 to 36.00 mm), while in the group with hypertrophic cardiomyopathy (GB) mean LVSD is 28 mm (n=20; 95% CI, 24.00 to 28.83 mm). The mean ejection fraction (EF%) observed in GA is EF=60% (n=40; 95% CI, 56.41 to 63.00%), while in

  16. Simultaneous determination of triple therapy for Helicobacter pylori in human plasma by reversed phase chromatography with online wavelength switching

    Science.gov (United States)

    Ahmed, Sameh; Atia, Noha N.

    2015-02-01

    The infection of gastric mucosa by Helicobacter pylori (HP) is an essential cofactor in the aetiology of gastroduodenal ulcer and gastric carcinoma. Because of the bacterial resistance, combination therapy containing omeprazole (OME), tinidazole (TNZ) and clarithromycin (CLA) is commonly used for eradication of HP. However, the simultaneous determination of the triple therapy in human plasma was not reported. A simple, reproducible, and selective HPLC method was developed for the simultaneous determination of the triple therapy mixture used for management of HP infections in human plasma. An HPLC procedure based on a liquid-liquid extraction, enrichment of the analytes and subsequent reversed-phase chromatography with UV detection was used. To enable sensitive and selective detection, the method involved the use of online wavelength switching detection, with two different detection wavelengths; 280 nm for detection of OME and TNZ and 210 nm for detection of CLA. Separations were performed on C18 analytical column with acetonitrile-10 mM phosphate buffer of pH = 3.0 at flow rate of 1.0 mL min-1. The linear ranges in human plasma were 0.05-10 μg mL-1 with correlation coefficients >0.9990. The detection limits in human plasma were 0.02-0.07 μg mL-1. Validation parameters were assessed in compliance with US-FDA guidelines. The method proved to be valuable for the therapeutic drug monitoring after oral administration of triple therapy tablets.

  17. Cardiomiopatía periparto Peripartum cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Jorge E Velásquez V

    2008-02-01

    Full Text Available La cardiomiopatía periparto es una entidad clínica con una frecuencia variable de acuerdo con la zona en estudio. Se caracteriza por disfunción sistólica del ventrículo izquierdo y posterior aparición de síntomas de falla cardiaca, los cuales ocurren durante el último mes de gestación y los primeros meses post- parto. Su etiología aún no es clara, pero se plantean diferentes teorías, las cuales se basan en fenómenos inflamatorios, infecciosos y auto-inmunes. Recientemente, se describieron alteraciones relacionadas con el estrés oxidativo, que podrían explicar en gran medida esta patología. Su presentación clínica guarda gran similitud con las demás causas de falla cardíaca, aunque se han descrito presentaciones atípicas. Su diagnóstico requiere alto nivel de sospecha y debe considerarse en toda mujer con síntomas de falla cardíaca durante el periparto. El tratamiento convencional de la falla cardiaca crónica que incluye beta-bloqueadores, inhibidores de la enzima convertidora de angiotensina y diuréticos, además de los adelantos en el diagnóstico y manejo de la falla cardiaca aguda, permitió cambiar la historia de la enfermedad al disminuir la mortalidad y recuperar la función sistólica del ventrículo izquierdo. Las gestaciones posteriores al desarrollo de esta entidad, dependerán de la recuperación completa de la función cardíaca, sin disminuir el riesgo de recurrencia. Todavía existen múltiples preguntas por responder en áreas como etiología, factores de riesgo, tratamiento y marcadores pronósticos que permitan prevenir y manejar en forma oportuna y segura tanto a la madre como a su hijo.Peripartum cardiomyopathy is a clinical entity with a variable frequency according to the zone of the study. It is characterized by a systolic dysfunction of the left ventricle and posterior appearance of heart failure symptoms that occur during the last month of pregnancy and the first post-partum months. Its etiology

  18. Iatrogenic Takotsubo Cardiomyopathy Secondary to Norepinephrine by Continuous Infusion for Shock

    OpenAIRE

    Alfredo Vieira; Bárbara Batista; Tiago Tribolet de Abreu

    2018-01-01

    Takotsubo cardiomyopathy is a condition characterized by transient left ventricular systolic and diastolic dysfunction, with a possible direct causal role of catecholamine in its pathophysiology. We present a case of a woman with shock and adrenal insufficiency in whom Takotsubo cardiomyopathy developed after treatment with norepinephrine. This case confirms the direct causal role of catecholamine in the pathophysiology of Takotsubo cardiomyopathy. An 82-year-old woman presented with asthenia...

  19. Canine candidate genes for dilated cardiomyopathy: annotation of and polymorphic markers for 14 genes

    OpenAIRE

    Wiersma, Anje C; Leegwater, Peter AJ; van Oost, Bernard A; Ollier, William E; Dukes-McEwan, Joanna

    2007-01-01

    Abstract Background Dilated cardiomyopathy is a myocardial disease occurring in humans and domestic animals and is characterized by dilatation of the left ventricle, reduced systolic function and increased sphericity of the left ventricle. Dilated cardiomyopathy has been observed in several, mostly large and giant, dog breeds, such as the Dobermann and the Great Dane. A number of genes have been identified, which are associated with dilated cardiomyopathy in the human, mouse and hamster. Thes...

  20. RESTRICTIVE CARDIOMYOPATHY AND SECONDARY CONGESTIVE HEART FAILURE IN A MCDOWELL'S CARPET PYTHON (MORELIA SPILOTA MCDOWELLI).

    Science.gov (United States)

    Schilliger, Lionel; Chetboul, Valérie; Damoiseaux, Cécile; Nicolier, Alexandra

    2016-12-01

    Echocardiography is an established and noninvasive diagnostic tool used in herpetologic cardiology. Various cardiac lesions have been previously described in reptiles with the exception of restrictive cardiomyopathy. In this case report, restrictive cardiomyopathy and congestive heart failure associated with left atrial and sinus venosus dilation were diagnosed in a 2-yr-old captive lethargic McDowell's carpet python ( Morelia spilota mcdowelli), based on echocardiographic, Doppler, and histopathologic examinations. This cardiomyopathy was also associated with thrombosis within the sinus venosus.

  1. Echomorphology of cardiomyopathy: review of 217 cases from 1999 to 2010

    International Nuclear Information System (INIS)

    Ilyas, S.; Ilyas, H.; Fawad, A.; Hameed, A.; Fazli, A.

    2013-01-01

    Objective: To study echocardiogram features of different types of cardiomyopathy presenting over a 12 year period at a single centre in Peshawar. Methods: The series comprised a retrospective review of 13,788 consecutive echocardiograms carried out at the Muhammadi Hospital International Medical Research Centre, Hayatabad, Peshawar, from January 1999 to December 2010. Patients were split into two: Group I with paediatric and adolescent cases (0-18 years) and Group II with adults (>18 years). In the adult group, women with peripartum cardiomyopathy were subdivided into two groups of 18-30 years and 30 to 44 years. Standard Echo B and M modes and Doppler parameters were recorded to ascertain the diagnoses of common primary and secondary cardiomyopathies. Patients with myocarditis with chambers dilatation and global dysfunction, and cardiopathy associated with major cardiovascular diseases were excluded. SPSS 14 was used for statistical analysis. Results: Cardiomyopathy was diagnosed in 217 (1.57%) cases. There were 144 (66%) cases of dilated cardiomyopathy with a mean age of 13+-14.8 years; 17 (8%) cases of hypertrophic cardiomyopathy with a mean age of 12+-11.5 years; and 7 (3%) cases of restrictive cardiomyopathy with a mean age of 31+-7.8 years. Primary cardiac amyloidosis was confirmed in 9 (4%) cases, and peripartum cardiomyopathy in 25 (11%) females. Rare subtypes were found in 15 (7%) cases. Conclusion: DCM was the most frequently diagnosed subtype of cardiomyopathy followed by HCM in both the adult and paediatric age groups. (author)

  2. Aetiological profile of nasal trauma in Ilorin North-Central Nigeria ...

    African Journals Online (AJOL)

    Background: The nose being the most prominent part of the face is easily traumatized in facial injuries and these has been found to be common among the Caucasians compared to the Africans and Asians. The aim is to ighlight the Aetiological profile of nasal trauma in Ilorin orth-central Nigeria. Method: A prospective study ...

  3. aetiological agents of ear discharge: a two year re- view in a ...

    African Journals Online (AJOL)

    2014-06-01

    Jun 1, 2014 ... SUMMARY. Background: The discharging ear is a common presentation in medical practice affecting all age groups but primarily children. This study shows the current aetiological causes of ear discharge and their antibiograms, data which would guide empirical treat- ment of ear infections, and also form ...

  4. Perspectives on the Aetiology of ODD and CD: A Grounded Theory Approach

    Science.gov (United States)

    McFarland, Patrick; Sanders, James; Hagen, Bradley

    2016-01-01

    Antisocial disorders, such as oppositional defiant disorder (ODD) and conduct disorder (CD), are common reasons for youth to be seen for clinical intervention. The intent of this constructivist grounded theory study was to evaluate clinicians' perspectives on the aetiology of antisocial disorders. Six professionals from various professional…

  5. http://www.bioline.org.br/js 101 Aetiological Profile of Facial Nerve ...

    African Journals Online (AJOL)

    jen

    Background: Facial nerve abnormalities represent a broad spectrum of lesions which are commonly seen by the otolaryngologist. The aim of this paper is to highlight the aetiologic profile of facial nerve palsy. Methods: A retrospective study of patients with facial nerve palsy seen in the Ear, Nose and Throat clinic for 5 years.

  6. Neonatal seizures : Aetiology by means of a standardized work-up

    NARCIS (Netherlands)

    Loman, Annemiek M. W.; ter Horst, Henk J.; Lambrechtsen, Florise A. C. P.; Lunsing, Roelineke J.

    Neonatal seizures are an alarming symptom and are frequent in neonates. It is important to find the cause of neonatal seizures to start a specific treatment and to give a meaningful prognosis. The aim of this study is to investigate the incidence of different aetiologies of neonatal seizures in our

  7. Influence of obesity-related risk factors in the aetiology of glioma

    DEFF Research Database (Denmark)

    Disney-Hogg, Linden; Sud, Amit; Law, Philip J

    2018-01-01

    BACKGROUND: Obesity and related factors have been implicated as possible aetiological factors for the development of glioma in epidemiological observation studies. We used genetic markers in a Mendelian randomisation framework to examine whether obesity-related traits influence glioma risk. This ...

  8. Symptoms and aetiology of delirium: a comparison of elderly and adult patients.

    Science.gov (United States)

    Grover, S; Agarwal, M; Sharma, A; Mattoo, S K; Avasthi, A; Chakrabarti, S; Malhotra, S; Kulhara, P; Bas, D

    2013-06-01

    OBJECTIVE. To compare the symptoms of delirium as assessed by the Delirium Rating Scale-Revised-98 (DRS-R-98) and associated aetiologies in adult and elderly patients seen in a consultation-liaison service. METHODS. A total of 321 consecutive patients with a DSM-IV-TR diagnosis of delirium were assessed on the DRS-R-98 and a study-specific aetiology checklist. RESULTS. Of the 321 patients, 245 (76%) aged 18 to 64 years formed the adult group, while 76 (24%) formed the elderly group (≥ 65 years). The prevalence and severity of various symptoms of delirium as assessed using the DRS-R-98 were similar across the 2 groups, except for the adult group having statistically higher prevalence and severity scores for thought process abnormalities and lability of affect. For both groups and the whole sample, factor analysis yielded a 3-factor model for the phenomenology. In the 2 groups, the DRS-R-98 item loadings showed subtle differences across various factors. The 2 groups were similar for the mean number of aetiologies associated with delirium, the mean number being 3. However, the 2 groups differed with respect to hepatic derangement, substance intoxication, withdrawal, and postpartum causes being more common in the adult group, in contrast lung disease and cardiac abnormalities were more common in the elderly group. CONCLUSION. Adult and elderly patients with delirium are similar with respect to the distribution of various symptoms, motor subtypes, and associated aetiologies.

  9. Epilepsy in sub-Saharan Africa: its socio-demography, aetiology ...

    African Journals Online (AJOL)

    Objective: To assess epileptics with regard to socio-demographic characteristics, aetiology, EEG results and classification. Design: A descriptive cohort study from 1997 to 2001. Setting: Parirenyatwa Group of Hospitals in Harare, Zimbabwe. Subjects: A total of 229 consecutive epileptic subjects. Results: The mean (s.d.) ...

  10. A review of the current literature on aetiology and measurement methods of halitosis.

    NARCIS (Netherlands)

    Broek, A.M. van den; Feenstra, L.; Baat, C. de

    2007-01-01

    OBJECTIVES: This work reviews the current knowledge of aetiology and measurement methods of halitosis. DATA: Halitosis is an unpleasant or offensive odour emanating from the breath. The condition is multifactorial and may involve both oral and non-oral conditions. SOURCES: A private, monthly with

  11. Domestic donkey (Equus africanus asinus bites: An unusual aetiology of severe scalp injuries in Morocco

    Directory of Open Access Journals (Sweden)

    Hatim Droussi

    2014-12-01

    Discussion: The bite of a donkey is rare aetiology of scalp injuries. Special features of these injuries, including a literature review, are discussed focusing on the care of these patients in the emergency centre, describing the surgical procedures required and antibiotic choice. Recommendations for the management of donkey bite scalp injuries are provided.

  12. Aetiology of male urethritis in patients recruited from a population with a high HIV prevalence.

    NARCIS (Netherlands)

    Sturm, P.D.J.; Moodley, P.; Khan, N.; Ebrahim, S.; Govender, K.; Connolly, C.E.; Sturm, A.W.

    2004-01-01

    The aetiology of urethritis, the significance of potential pathogens and the relation of urethritis to HIV infection were determined in 335 men (cases) with and 100 men (controls) without urethral symptoms. Urethral swab specimens were tested for different organisms by PCR or by culture for

  13. Does the sun play a role in the aetiology of malignant melanoma ...

    African Journals Online (AJOL)

    The role of the sun in the aetiology of malignant melanoma is controversial. In 1992 Schuster1 wrote provocatively, 'Despite the lack of evidence of a causal link between sun exposure and melanoma, fear has been used shamelessly to frighten people out of the sun and into pigmented lesion clinics.' He claimed that the ...

  14. Myocardial ischemia in hypertrophic cardiomyopathy; Isquemia miocardica na cardiomiopatia hipertrofica

    Energy Technology Data Exchange (ETDEWEB)

    Lima Filho, Moyses de Oliveira; Figueiredo, Geraldo L.; Simoes, Marcus V.; Pyntia, Antonio O.; Marin Neto, Jose Antonio [Sao Paulo Univ., Ribeirao Preto, SP (Brazil). Faculdade de Medicina. Div. de Cardiologia

    2000-08-01

    Myocardial ischemia in hypertrophic cardiomyopathy is multifactorial and explains the occurrence of angina, in about 50% of patients. The pathophysiology of myocardial ischemia may be explained by the increase of the ventricular mass and relative paucity of the coronary microcirculation; the elevated ventricular filling pressures and myocardial stiffness causing a compression of the coronary microvessels; the impaired coronary vasodilator flow reserve caused by anatomic and functional abnormalities; and the systolic compression of epicardial vessel (myocardial bridges). Myocardial ischemia must be investigated by perfusion scintigraphic methods since its presence influences the prognosis and has relevant clinical implications for management of patients. Patients with hypertrophic cardiomyopathy and documented myocardial ischemia usually need to undergo invasive coronary angiography to exclude the presence of concomitant atherosclerotic coronary disease. (author)

  15. Baking soda pica associated with rhabdomyolysis and cardiomyopathy in pregnancy.

    Science.gov (United States)

    Scolari Childress, Katherine M; Myles, Thomas

    2013-08-01

    Pica is a commonly underappreciated disorder in pregnancy that can lead to several complications, including severe metabolic derangements and other adverse outcomes. We report a case of baking soda pica in pregnancy associated with both rhabdomyolysis and cardiomyopathy. A multigravid woman at 37 weeks of gestation presented with weakness and severe hypokalemia. She subsequently had development of rhabdomyolysis and presumed peripartum cardiomyopathy. After delivery, it was discovered that the patient had a long history of consumption of large quantities of baking soda. Her condition improved with cessation of the pica. Clinicians must have a high index of suspicion for pica in pregnancy because it can lead to complex diagnostic challenges and pregnancy complications. The diagnosis should be considered in a patient with unexplained metabolic abnormalities.

  16. Evaluation of left cardiac function by exercise in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Konishi, Tokuji; Horayama, Norihisa; Hamada, Masayuki; Nakano, Takeshi; Takezawa, Hideo

    1981-01-01

    Left ventricular systolic and diastolic features at rest and exercise in hypertrophic cardiomyopathy were evaluated by Fourier analysis of blood pool scintigraphy (intracorporeal labelling with sup(99m)Tc-RBC). In the normal group (17 subjects), the left ventricular ejection fraction showed a linear increase, but no abnormality of regional ventricular wall motion, by multistage exercises. The hypertrophic cardiomyopathy group showed higher left ventricular ejection fractions at rest than those of the normal group, and in the HCM group (non-obstructive, from morphological features; 7 cases) the left ventricular ejection fraction did not increase any more when it reached a certain plateau in accordance with increased stress. In the HOCM (obstructive; 5 cases), the left ventricular ejection fraction showed a decreasing tendency as the stress was increased and also showed contractile abnormalities from the left ventricular center to the apex. Fourier analysis was effective for the evaluation of these changes. (Chiba, N.)

  17. Atlas of the clinical genetics of human dilated cardiomyopathy

    DEFF Research Database (Denmark)

    Haas, Jan; Frese, Karen S; Peil, Barbara

    2015-01-01

    AIM: Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until now technological limitations have hindered elucidation of the contribution of all clinically relevant disease genes to DCM phenotypes in larger cohorts. We now utilized next-generation sequencing to overcome...... these limitations and screened all DCM disease genes in a large cohort. METHODS AND RESULTS: In this multi-centre, multi-national study, we have enrolled 639 patients with sporadic or familial DCM. To all samples, we applied a standardized protocol for ultra-high coverage next-generation sequencing of 84 genes...... disease variants, we find titin, plakophilin-2, myosin-binding protein-C 3, desmoplakin, ryanodine receptor 2, desmocollin-2, desmoglein-2, and SCN5A variants among the most commonly mutated genes. The overlap between DCM, hypertrophic cardiomyopathy (HCM), and channelopathy causing mutations...

  18. [Spongy cardiomyopathy in an elderly woman. Echocardiographic description].

    Science.gov (United States)

    Canale, Jesús; Cortés Lawrenz, Jorge; Moreno Valenzuela, Francisco Germán

    2005-01-01

    Isolated left ventricular noncompaction, also known as spongy myocardium or spongy cardiomyopathy, is a recently described congenital disease caused by an arrest in the left ventricular myocardial embriogenesis that makes the ventricular wall to persist thickened with multiple trabecular formations and deep sinusoidal recesses. It is clinically characterized by heart failure, cardiac arrhythmia and systemic embolic events. Most of the affected subjects are detected during childhood or adolescence, others in the adult life but very few elderly patients have been reported in the worldwide medical literature. We here report the case of a 75-year-old woman that is one of the oldest patients ever reported, whose clinical picture and echocardiographic findings are typical of this modality of cardiomyopathy. We do comments on this case in regard to the most relevant facts that appear in the limited medical literature about this interesting disease.

  19. Hereditary arrhythmias and cardiomyopathies: decision-making about genetic testing.

    Science.gov (United States)

    Louis, Clauden; Calamaro, Emily; Vinocur, Jeffrey M

    2018-01-01

    The modern field of clinical genetics has advanced beyond the traditional teachings familiar to most practicing cardiologists. Increased understanding of the roles of genetic testing may improve uptake and appropriateness of use. Clinical genetics has become integral to the management of patients with hereditary arrhythmia and cardiomyopathy diagnoses. Depending on the condition, genetic testing may be useful for diagnosis, prognosis, treatment, family screening, and reproductive planning. However, genetic testing is a powerful tool with potential for underuse, overuse, and misuse. In the absence of a substantial body of literature on how these guidelines are applied in clinical practice, we use a case-based approach to highlight key lessons and pitfalls. Importantly, in many scenarios genetic testing has become the standard of care supported by numerous class I recommendations; genetic counselors can improve accessibility to and appropriate use and application of testing. Optimal management of hereditary arrhythmias and cardiomyopathies incorporates genetic testing, applied as per consensus guidelines, with involvement of a multidisciplinary team.

  20. Takotsubo Cardiomyopathy in a Patient with Undiscovered Sigmoid Colon Cancer

    Directory of Open Access Journals (Sweden)

    Huang Po-Yen

    2017-01-01

    Full Text Available Takotsubo cardiomyopathy (TTC is a stress-related cardiomyopathy that is characterized by reversible left systolic dysfunction, which appears to be precipitated by sudden emotional or physical stress in the absence of myocardial infarction. Here we present a rare case that clinically presented with intermittent abdominal pain, initially impressed as non-ST elevation myocardial infarction and congestive heart failure but with a normal coronary angiogram. Her symptoms relieved spontaneously without returning. Sigmoid colon cancer was diagnosed via colonoscopy later due to persistent abdominal discomfort. In the absence of detectable emotional or physical stress factors, the newly diagnosed sigmoid colon cancer was the only possible trigger factor of TTC. We offer this case as a reminder that cancer should be considered in the differential diagnosis of patients presenting with the etiology of TTC.

  1. Zumba-induced Takotsubo cardiomyopathy: a case report.

    Science.gov (United States)

    Chams, Sana; El Sayegh, Skye; Hamdon, Mulham; Kumar, Sarwan; Kulairi, Zain

    2018-06-10

    Takotsubo cardiomyopathy or stress cardiomyopathy is characterized by transient left ventricular apical ballooning in the absence of coronary occlusion. The underlying pathophysiological mechanism is still unclear but possible causes have been proposed mainly catecholamine cardiotoxicity, followed by metabolic disturbance, coronary microvascular impairment, and multivessel epicardial coronary artery vasospasm. Takotsubo cardiomyopathy accounts for 1-2% of patients presenting with acute coronary syndrome with the majority of patients diagnosed with Takotsubo cardiomyopathy being women > 55 years of age. Here, we discuss the case of a 38-year-old woman presenting with typical chest pain, electrocardiography changes and cardiac markers consistent with acute coronary syndrome, who was subsequently diagnosed with Takotsubo cardiomyopathy. A 38-year-old healthy American woman with negative past medical history presented to our Emergency Department with chest pain developing while participating in intense outdoor physical activities (Zumba) at a fundraising event. Our patient had typical substernal chest pain induced with exercise and was relieved by sublingual nitroglycerin in the Emergency Department. The pain started after 2 h of intensive Zumba workout. On review of her history, our patient was noted to be taking spironolactone 125 mg once daily for hirsutism for the past year. Our patient denied any family history of cardiac disease or heart failure. She admitted to being a former occasional smoker and to drinking alcohol socially. She denied any illicit drug use. She works as a social worker, and reported that she does not experience much stress in her life and denied any "one big life-changing event" or any major stressful news. While in the Emergency Department, our patient was hemodynamically stable and an electrocardiography was performed and showed sinus rhythm with no ST elevation/depression but noted T-wave inversion in leads I and aVL, and T wave

  2. Drop evaporation and triple line dynamics

    Science.gov (United States)

    Sobac, Benjamin; Brutin, David; Gavillet, Jerome; Université de Provence Team; Cea Liten Team

    2011-03-01

    Sessile drop evaporation is a phenomenon commonly came across in nature or in industry with cooling, paintings or DNA mapping. However, the evaporation of a drop deposited on a substrate is not completely understood due to the complexity of the problem. Here we investigate, with several nano-coating of the substrate (PTFE, SiOx, SiOc and CF), the influence of the dynamic of the triple line on the evaporation process. The experiment consists in analyzing simultaneously the motion of the triple line, the kinetics of evaporation, the internal thermal motion and the heat and mass transfer. Measurements of temperature, heat-flux and visualizations with visible and infrared cameras are performed. The dynamics of the evaporative heat flux appears clearly different depending of the motion of the triple line

  3. Evaluation of 10 genes encoding cardiac proteins in Doberman Pinschers with dilated cardiomyopathy.

    Science.gov (United States)

    O'Sullivan, M Lynne; O'Grady, Michael R; Pyle, W Glen; Dawson, John F

    2011-07-01

    To identify a causative mutation for dilated cardiomyopathy (DCM) in Doberman Pinschers by sequencing the coding regions of 10 cardiac genes known to be associated with familial DCM in humans. 5 Doberman Pinschers with DCM and congestive heart failure and 5 control mixed-breed dogs that were euthanized or died. RNA was extracted from frozen ventricular myocardial samples from each dog, and first-strand cDNA was synthesized via reverse transcription, followed by PCR amplification with gene-specific primers. Ten cardiac genes were analyzed: cardiac actin, α-actinin, α-tropomyosin, β-myosin heavy chain, metavinculin, muscle LIM protein, myosinbinding protein C, tafazzin, titin-cap (telethonin), and troponin T. Sequences for DCM-affected and control dogs and the published canine genome were compared. None of the coding sequences yielded a common causative mutation among all Doberman Pinscher samples. However, 3 variants were identified in the α-actinin gene in the DCM-affected Doberman Pinschers. One of these variants, identified in 2 of the 5 Doberman Pinschers, resulted in an amino acid change in the rod-forming triple coiled-coil domain. Mutations in the coding regions of several genes associated with DCM in humans did not appear to consistently account for DCM in Doberman Pinschers. However, an α-actinin variant was detected in some Doberman Pinschers that may contribute to the development of DCM given its potential effect on the structure of this protein. Investigation of additional candidate gene coding and noncoding regions and further evaluation of the role of α-actinin in development of DCM in Doberman Pinschers are warranted.

  4. Normalization for triple-target microarray experiments

    Directory of Open Access Journals (Sweden)

    Magniette Frederic

    2008-04-01

    Full Text Available Abstract Background Most microarray studies are made using labelling with one or two dyes which allows the hybridization of one or two samples on the same slide. In such experiments, the most frequently used dyes are Cy3 and Cy5. Recent improvements in the technology (dye-labelling, scanner and, image analysis allow hybridization up to four samples simultaneously. The two additional dyes are Alexa488 and Alexa494. The triple-target or four-target technology is very promising, since it allows more flexibility in the design of experiments, an increase in the statistical power when comparing gene expressions induced by different conditions and a scaled down number of slides. However, there have been few methods proposed for statistical analysis of such data. Moreover the lowess correction of the global dye effect is available for only two-color experiments, and even if its application can be derived, it does not allow simultaneous correction of the raw data. Results We propose a two-step normalization procedure for triple-target experiments. First the dye bleeding is evaluated and corrected if necessary. Then the signal in each channel is normalized using a generalized lowess procedure to correct a global dye bias. The normalization procedure is validated using triple-self experiments and by comparing the results of triple-target and two-color experiments. Although the focus is on triple-target microarrays, the proposed method can be used to normalize p differently labelled targets co-hybridized on a same array, for any value of p greater than 2. Conclusion The proposed normalization procedure is effective: the technical biases are reduced, the number of false positives is under control in the analysis of differentially expressed genes, and the triple-target experiments are more powerful than the corresponding two-color experiments. There is room for improving the microarray experiments by simultaneously hybridizing more than two samples.

  5. Peripartum cardiomyopathy in the Hospital Albert Schweitzer District of Haiti.

    Science.gov (United States)

    Fett, James D; Carraway, Robert D; Dowell, Duane L; King, Mary Etta; Pierre, Ronald

    2002-05-01

    This report details current epidemiologic information on peripartum cardiomyopathy in 1 district of Haiti and represents the initial report of an ongoing investigation that addresses potential etiologic and prognostic factors. Another goal is to alert the medical community of what appears to be a high-incidence area. A detailed peripartum cardiomyopathy registry has been implemented to include a review of case records from 1994 to 2000 and subsequently to identify new cases from February 1, 2000, to July 1, 2001. The Hospital Albert Schweitzer District of Haiti is a 600-square mile area with approximately 258,000 population served by a hospital, an associated clinic, and outlying health centers. There are approximately 7740 live births annually. This report details epidemiologic information on the HAS District peripartum cardiomyopathy patients including incidence, mortality rate, complications, and prognostic factors. There were 47 confirmed patients (retrospective cohort, 20 patients; prospective cohort, 27 patients), which was approximately 1 case per 400 live births (compared with an incidence of 1 case per 3000 to 4000 live births in the United States). There were 4 deaths (14% of 29 patients with follow-up), and 7 complications (pulmonary embolism, 1 case; hemiplegia, 1 case; subsequent deterioration of heart function, 5 cases). The prognosis for subsequent pregnancy was 4 of 5 cases (80%) of recurrent congestive heart failure. Peripartum cardiomyopathy appears to be relatively common in the Hospital Albert Schweitzer District of Haiti. A core group of patients is identified for ongoing epidemiologic and immunohematologic investigation of risk factors and potential etiologic factors.

  6. Takotsubo cardiomyopathy associated with Miller-Fisher syndrome.

    Science.gov (United States)

    Gill, Dalvir; Liu, Kan

    2017-07-01

    51-year-old female who presented with progressive paresthesia, numbness of the lower extremities, double vision, and trouble walking. Physical exam was remarkable for areflexia, and ptosis. Her initial EKG showed nonspecific ST segment changes and her Troponin T was elevated to 0.41ng/mL which peaked at 0.66ng/mL. Echocardiogram showed a depressed left ventricular ejection fraction to 35% with severely hypokinetic anterior wall and left ventricular apex was severely hypokinetic. EMG nerve conduction study showed severely decreased conduction velocity and prolonged distal latency in all nerves consistent with demyelinating disease. She was treated with 5days of intravenous immunoglobulin therapy to which she showed significant improvement in strength in her lower extremities. Echocardiogram repeated 4days later showing an improved left ventricular ejection fraction of 55% and no left ventricular wall motion abnormalities. Takotsubo cardiomyopathy is a rare complication of Miller-Fisher syndrome and literature review did not reveal any cases. Miller-Fisher syndrome is an autoimmune process that affects the peripheral nervous system causing autonomic dysfunction which may involve the heart. Due to significant autonomic dysfunction in Miller-Fisher syndrome, it could lead to arrhythmias, blood pressure changes, acute coronary syndrome and myocarditis, Takotsubo cardiomyopathy can be difficult to distinguish. The treatment of Takotsubo cardiomyopathy is supportive with beta-blockers and angiotensin-converting enzyme inhibitors are recommended until left ventricle ejection fraction improvement. Takotsubo cardiomyopathy is a rare complication during the acute phase of Miller-Fisher syndrome and must be distinguished from autonomic dysfunction as both diagnoses have different approaches to treatment. Published by Elsevier Inc.

  7. Embryonic stem cell therapy of heart failure in genetic cardiomyopathy.

    Science.gov (United States)

    Yamada, Satsuki; Nelson, Timothy J; Crespo-Diaz, Ruben J; Perez-Terzic, Carmen; Liu, Xiao-Ke; Miki, Takashi; Seino, Susumu; Behfar, Atta; Terzic, Andre

    2008-10-01

    Pathogenic causes underlying nonischemic cardiomyopathies are increasingly being resolved, yet repair therapies for these commonly heritable forms of heart failure are lacking. A case in point is human dilated cardiomyopathy 10 (CMD10; Online Mendelian Inheritance in Man #608569), a progressive organ dysfunction syndrome refractory to conventional therapies and linked to mutations in cardiac ATP-sensitive K(+) (K(ATP)) channel subunits. Embryonic stem cell therapy demonstrates benefit in ischemic heart disease, but the reparative capacity of this allogeneic regenerative cell source has not been tested in inherited cardiomyopathy. Here, in a Kir6.2-knockout model lacking functional K(ATP) channels, we recapitulated under the imposed stress of pressure overload the gene-environment substrate of CMD10. Salient features of the human malignant heart failure phenotype were reproduced, including compromised contractility, ventricular dilatation, and poor survival. Embryonic stem cells were delivered through the epicardial route into the left ventricular wall of cardiomyopathic stressed Kir6.2-null mutants. At 1 month of therapy, transplantation of 200,000 cells per heart achieved teratoma-free reversal of systolic dysfunction and electrical synchronization and halted maladaptive remodeling, thereby preventing end-stage organ failure. Tracked using the lacZ reporter transgene, stem cells engrafted into host heart. Beyond formation of cardiac tissue positive for Kir6.2, transplantation induced cell cycle activation and halved fibrotic zones, normalizing sarcomeric and gap junction organization within remuscularized hearts. Improved systemic function induced by stem cell therapy translated into increased stamina, absence of anasarca, and benefit to overall survivorship. Embryonic stem cells thus achieve functional repair in nonischemic genetic cardiomyopathy, expanding indications to the therapy of heritable heart failure. Disclosure of potential conflicts of interest is

  8. Krein Spectral Triples and the Fermionic Action

    International Nuclear Information System (INIS)

    Dungen, Koen van den

    2016-01-01

    Motivated by the space of spinors on a Lorentzian manifold, we define Krein spectral triples, which generalise spectral triples from Hilbert spaces to Krein spaces. This Krein space approach allows for an improved formulation of the fermionic action for almost-commutative manifolds. We show by explicit calculation that this action functional recovers the correct Lagrangians for the cases of electrodynamics, the electro-weak theory, and the Standard Model. The description of these examples does not require a real structure, unless one includes Majorana masses, in which case the internal spaces also exhibit a Krein space structure.

  9. RITA: The reinvented triple axis spectrometer

    Energy Technology Data Exchange (ETDEWEB)

    Mason, T.E. [Toronto Univ., ON (Canada). Dept. of Physics; Clausen, K.N.; Aeppli, G.; McMorrow, D.R.; Kjems, J.K. [Risoe National Lab., Roskilde (Denmark)

    1995-11-01

    Risoe National Laboratory was reported to be in the process of developing a new spectrometer design, RITA, based on the triple axis design. The spectrometer will attempt to incorporate more recent innovations such as multilayer supermirrors and microstrip proportional counters into a rethinking of the triple-axis spectrometer. By optimizing the beam optics, using supermirrors and extending the analyser to map regions of (Q, {omega}) space using an array of independently controllable pyrolytic graphite crystals focussed on an area detector, it was hoped that the efficiency of single-crystal inelastic experiments could be increased by as much as a factor of 20. 7 figs., 20 refs.

  10. Takotsubo cardiomyopathy in a Caucasian Italian woman: Case report

    Directory of Open Access Journals (Sweden)

    Castellani Debora

    2007-04-01

    Full Text Available Abstract Background Takotsubo cardiomyopathy is an acute cardiac syndrome characterized by transient LV regional wall motion abnormalities (with peculiar apical ballooning appearance, chest pain or dyspnea, ST-segment elevation and minor elevations of cardiac enzyme levels Case presentation A 68-year-old woman was admitted to the Emergency Department because of sudden onset chest pain occurred while transferring her daughter, who had earlier suffered a major seizure, to the hospital. The EKG showed sinus tachycardia with ST-segment elevation in leads V2–V3 and ST-segment depression in leads V5–V6, she was, thus, referred for emergency coronary angiography. A pre-procedural transthoracic echocardiogram revealed regional systolic dysfunction of the LV walls with hypokinesis of the mid-apical segments and hyperkinesis of the basal segments. Coronary angiography showed patent epicardial coronary arteries; LV angiography demonstrated the characteristic morphology of apical ballooning with hyperkinesis of the basal segments and hypokinesis of the mid-apical segments. The post-procedural course was uneventful; on day 5 after admission the echocardiogram revealed full recovery of apical and mid-ventricular regional wall-motion abnormalities. Conclusion Takotsubo cardiomyopathy is a relatively rare, unique entity that has only recently been widely appreciated. Acute stress has been indicated as a common trigger for the transient LV apical ballooning syndrome, especially in postmenopausal women. The present report is a typical example of stress-induced takotsubo cardiomyopathy in a Caucasian Italian postmenopausal woman.

  11. Takotsubo cardiomyopathy in two men receiving bevacizumab for metastatic cancer

    Directory of Open Access Journals (Sweden)

    Thérèse H Franco

    2008-10-01

    Full Text Available Thérèse H Franco, Ahmed Khan, Vishal Joshi, Beje ThomasDepartment of Internal Medicine, University of Connecticut, Farmington, CT, USAAbstract: Bevacizumab is a monoclonal antibody that inhibits vascular endothelial growth factor (VEGF. It is a novel chemotherapeutic agent currently approved as part of combination chemotherapy for metastatic colorectal cancer, non-small cell lung cancer, and breast cancer (Hurwitz et al 2004; Sandler et al 2006; Traina et al 2007. Arterial thrombosis, including cerebral infarction, transient ischemic attacks, myocardial infarction, and angina are common, occurring in 4.4% of patients whose regimen includes bevacizumab (versus 1.9% on regimen without bevacizumab (Genetech, Inc. 2008. This series will review two cases of patients exposed to bevacizumab who subsequently developed ST elevations on electrocardiogram (ECG and elevated cardiac biomarkers. Both patients underwent cardiac catheterization, which demonstrated apical ballooning and akinesis in a distribution discordant with the observed (noncritical atherosclerotic lesions. Both patients had recovery of left ventricular function within 30 days. The clinical presentation, including ECGs and findings on catheterization as well as the rapid recovery of ventricular function, is consistent with the diagnosis of takotsubo cardiomyopathy. Takotsubo cardiomyopathy was first described in 1991, but the pathophysiology and exact mechanism of injury remain largely unknown. These two cases are notable for their occurrence in men and the association with treatment of metastatic cancer including bevacizumab.Keywords: vascular endothelial growth factor, bevacizumab, metastatic cancer, chemotherapy, takotsubo, cardiomyopathy

  12. Arrhythmogenic right ventricular cardiomyopathy in a dog : case report

    Directory of Open Access Journals (Sweden)

    A.J. Möhr

    2000-07-01

    Full Text Available An 8-month-old Labrador retriever bitch was evaluated for sudden-onset, progressive abdominal distension. Physical examination revealed an exaggerated inspiratory effort, severe ascites, bilateral jugular vein distension, and hypokinetic femoral arterial pulses. Thoracic auscultation detected tachycardia with muffled heart sounds, without audible cardiac murmurs. Thoracic radiographs identified severe right ventricular enlargement and pleural effusion. The electrocardiogram was consistent with incomplete right bundle branch block or right ventricular enlargement. Echocardiography demonstrated severe right ventricular and atrial dilation, secondary tricuspid regurgitation, and thinning and hypocontractility of the right ventricular myocardium. Left heart chamber sizes were slightly decreased, with normal left ventricular contractility. Adiagnosis of arrhythmogenic right ventricular cardiomyopathy was reached, based on the characteristic clinical, electrocardiographic, radiographic and echocardiographic findings, and the exclusion of other causes of isolated right ventricular failure. Treatment effected good control of clinical signs, until acutely decompensated congestive right heart failure led to euthanasia after 4 months. Arrhythmogenic right ventricular cardiomyopathy is a well-described clinical entity in humans, and has previously been documented in 3 male dogs. The condition is characterised by progressive fibro-adipose replacement of right ventricular myocardium, while the left ventricle usually remains unaffected. It should be considered a differential diagnosis in any young dog presented with isolated right heart failure, syncope, or unexplained ventricular tachyarrhythmias. This article reports the 1st case of arrhythmogenic right ventricular cardiomyopathy in a female dog, and highlights its echocardiographic features.

  13. Hydroxychloroquine-induced cardiomyopathy: case report, pathophysiology, diagnosis, and treatment.

    Science.gov (United States)

    Yogasundaram, Haran; Putko, Brendan N; Tien, Julia; Paterson, D Ian; Cujec, Bibiana; Ringrose, Jennifer; Oudit, Gavin Y

    2014-12-01

    Drug-induced heart and vascular disease remains an important health burden. Hydroxychloroquine and its predecessor chloroquine are medications commonly used in the treatment of systemic lupus erythematosus, rheumatoid arthritis, and other connective tissue disorders. Hydroxychloroquine interferes with malarial metabolites, confers immunomodulatory effects, and also affects lysosomal function. Clinical monitoring and early recognition of toxicity is an important management strategy in patients who undergo long-term treatment with hydroxychloroquine. Retinal toxicity, neuromyopathy, and cardiac disease are recognized adverse effects of hydroxychloroquine. Immediate withdrawal of hydroxychloroquine is essential if toxicity is suspected because of the early reversibility of cardiomyopathy. In addition to recommended ophthalmological screening, regular screening with 12-lead electrocardiogram and transthoracic echocardiography to detect conduction system disease and/or biventricular morphological or functional changes should be considered in hydroxychloroquine-treated patients. Cardiac magnetic resonance imaging and endomyocardial biopsy are valuable tools to provide prognostic insights and confirm the diagnosis of hydroxychloroquine-induced cardiomyopathy. In conclusion, chronic use of hydroxychloroquine can result in an acquired lysosomal storage disorder, leading to a drug-induced cardiomyopathy characterized by concentric hypertrophy and conduction abnormalities associated with increased adverse clinical outcomes and mortality. Copyright © 2014 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  14. Lysosome-associated hypertrophic cardiomyopathy (Danon's disease in two siblings

    Directory of Open Access Journals (Sweden)

    I. V. Leontyeva

    2015-01-01

    Full Text Available The paper presents a clinical observation of two siblings with Danon's disease (lysosome-associated cardiomyopathy verified by genetic examination. Heart lesion in Danon's disease bears a phenotypic similarity to the primary forms of hypertrophic cardiomyopathy; in this connection the correct etiology of the disease has remained long unestablished. The presence of laboratory markers as the significantly raised levels of transaminases, creatine phosphokinase, and lactate dehydrogenase was as a guide for suspecting the metabolic origin of the disease. Two siblings with a similar LAMP gene mutation were observed to have a different clinical course: a severer clinical course of cardiomyopathy with extreme myocardial hypertrophy, myocardial electric instability, and mental development retardation in one case and a more favorable course in the other; although a 2-year follow-up also revealed negative changes. For the prevention of sudden cardiac death, a cardioverter defibrulator was implanted and continuous therapy with p-adrenoblockers was performed. The specific feature of the cases was no symptoms of skeletal myopathy, moderate mental retardation only in the elder brother, no evidence of an accessory atrioventricular junction despite the fact that there were ECG manifestations of Wolff-Parkinson-White syndrome

  15. Takotsubo Cardiomyopathy in the Setting of Tension Pneumothorax.

    Science.gov (United States)

    Gale, Michael; Loarte, Pablo; Mirrer, Brooks; Mallet, Thierry; Salciccioli, Louis; Petrie, Alison; Cohen, Ronny

    2015-01-01

    Background. Takotsubo cardiomyopathy is defined as a transient left ventricular dysfunction, usually accompanied by electrocardiographic changes. The literature documents only two other cases of Takotsubo cardiomyopathy in the latter setting. Methods. A 78-year-old female presented to the ED with severe shortness of breath, hypertension, and tachycardia. On physical exam, heart sounds (S1 and S2) were regular and wheezing was noticed bilaterally. We found laboratory results with a WBC of 20.0 (103/μL), troponin of 16.52 ng/mL, CK-mb of 70.6%, and BNP of 177 pg/mL. The patient was intubated for acute hypoxemic respiratory failure. A chest X-ray revealed a large left-sided tension pneumothorax. Initial echocardiogram showed apical ballooning with a LVEF of 10-15%. A cardiac angiography revealed normal coronary arteries with no coronary disease. After supportive treatment, the patient's condition improved with a subsequent echocardiogram showing a LVEF of 60%. Conclusion. The patient was found to have Takotsubo cardiomyopathy in the setting of a tension pneumothorax. The exact mechanisms of ventricular dysfunction have not been clarified. However, multivessel coronary spasm or catecholamine cardiotoxicity has been suggested to have a causative role. We suggest that, in our patient, left ventricular dysfunction was induced by the latter mechanism related to the stress associated with acute pneumothorax.

  16. Takotsubo Cardiomyopathy in the Setting of Tension Pneumothorax

    Directory of Open Access Journals (Sweden)

    Michael Gale

    2015-01-01

    Full Text Available Background. Takotsubo cardiomyopathy is defined as a transient left ventricular dysfunction, usually accompanied by electrocardiographic changes. The literature documents only two other cases of Takotsubo cardiomyopathy in the latter setting. Methods. A 78-year-old female presented to the ED with severe shortness of breath, hypertension, and tachycardia. On physical exam, heart sounds (S1 and S2 were regular and wheezing was noticed bilaterally. We found laboratory results with a WBC of 20.0 (103/μL, troponin of 16.52 ng/mL, CK-mb of 70.6%, and BNP of 177 pg/mL. The patient was intubated for acute hypoxemic respiratory failure. A chest X-ray revealed a large left-sided tension pneumothorax. Initial echocardiogram showed apical ballooning with a LVEF of 10–15%. A cardiac angiography revealed normal coronary arteries with no coronary disease. After supportive treatment, the patient’s condition improved with a subsequent echocardiogram showing a LVEF of 60%. Conclusion. The patient was found to have Takotsubo cardiomyopathy in the setting of a tension pneumothorax. The exact mechanisms of ventricular dysfunction have not been clarified. However, multivessel coronary spasm or catecholamine cardiotoxicity has been suggested to have a causative role. We suggest that, in our patient, left ventricular dysfunction was induced by the latter mechanism related to the stress associated with acute pneumothorax.

  17. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.

    Science.gov (United States)

    Boyden, Lynn M; Kam, Chen Y; Hernández-Martín, Angela; Zhou, Jing; Craiglow, Brittany G; Sidbury, Robert; Mathes, Erin F; Maguiness, Sheilagh M; Crumrine, Debra A; Williams, Mary L; Hu, Ronghua; Lifton, Richard P; Elias, Peter M; Green, Kathleen J; Choate, Keith A

    2016-01-15

    Disorders of keratinization (DOK) show marked genotypic and phenotypic heterogeneity. In most cases, disease is primarily cutaneous, and further clinical evaluation is therefore rarely pursued. We have identified subjects with a novel DOK featuring erythrokeratodermia and initially-asymptomatic, progressive, potentially fatal cardiomyopathy, a finding not previously associated with erythrokeratodermia. We show that de novo missense mutations clustered tightly within a single spectrin repeat of DSP cause this novel cardio-cutaneous disorder, which we term erythrokeratodermia-cardiomyopathy (EKC) syndrome. We demonstrate that DSP mutations in our EKC syndrome subjects affect localization of desmosomal proteins and connexin 43 in the skin, and result in desmosome aggregation, widening of intercellular spaces, and lipid secretory defects. DSP encodes desmoplakin, a primary component of desmosomes, intercellular adhesion junctions most abundant in the epidermis and heart. Though mutations in DSP are known to cause other disorders, our cohort features the unique clinical finding of severe whole-body erythrokeratodermia, with distinct effects on localization of desmosomal proteins and connexin 43. These findings add a severe, previously undescribed syndrome featuring erythrokeratodermia and cardiomyopathy to the spectrum of disease caused by mutation in DSP, and identify a specific region of the protein critical to the pathobiology of EKC syndrome and to DSP function in the heart and skin. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  18. Comparison among patients with hypertrophic cardiomyopathy, hypertrophic cardiomyopathy with hypertension and hypertensive heart disease by 123I-BMIPP myocardial scintigraphy

    International Nuclear Information System (INIS)

    Yoneyama, Satoshi; Sugihara, Hiroki; Ito, Kazuki

    1997-01-01

    The usefulness of 123 I-BMIPP myocardial SPECT in discriminating hypertrophic cardiomyopathy (46 patients), hypertrophic cardiomyopathy with hypertension (23 patients), and hypertensive hypertrophic heart (20 patients) was studied. SPECT image was divided into 17 domains, and dimension of decreased accumulation was decided visually at each domain as four classes called defect score (DS). Summation of DS (TDS) of each group was used to compare frequency and dimension of decreased accumulation, and characteristic of each site. Frequency of decreased accumulation and TDS in hypertrophic cardiomyopathy were similar in dimension with those in hypertrophic cardiomyopathy with hypertension, and those data in hypertensive hypertrophic heart were lower than those in above-mentioned 2 groups. In the cases of hypertrophic cardiomyopathy and hypertrophic cardiomyopathy with hypertension, decreased accumulation site was similar and was anterior wall-septum junction, septum-posterior wall junction and apex of heart. In the case of hypertensive hypertrophic heart, decreased accumulation site was only the posterior wall. Frequency, dimension and site of decreased accumulation in hypertrophic cardiomyopathy were different from those in hypertensive hypertrophic heart, and BMIPP was thought to be useful in discriminating these diseases. (K.H.)

  19. Triple helix interactions for eco-innovation

    DEFF Research Database (Denmark)

    Hermann, Roberto Rivas; Riisgaard, Henrik; Remmen, Arne

    the role of science parks in promoting eco-innovation. This study uses qualitative data gathered in two units of analysis: Panama Canal Authority and City of Knowledge Science Park. The study examines how Triple Helix interactions have built the regional system of eco-innovation at the Panama Canal...

  20. Triple-axis spectrometer DruechaL

    International Nuclear Information System (INIS)

    Buehrer, W.; Keller, P.

    1996-01-01

    DruechaL is a triple-axis spectrometer located at a cold guide. The characteristics of guide and instrument allow the use of a broad spectral range of neutrons. The resolution in momentum and energy transfer can be tuned to match the experimental requirements by using either collimators or focusing systems (monochromator, antitrumpet, analyser). (author) figs., tabs., refs

  1. A Biatrial Myxoma with Triple Ripples.

    Science.gov (United States)

    Barik, Ramachandra

    2018-01-01

    Cardiac myxoma is a benign tumor, but it is known for its space-occupying effect at the site of origin and frequent systemic embolization. This case report highlights a biatrial myxoma of interatrial septum who presented with significant tricuspid valve regurgitation, atrial fibrillation, and cardioembolic stroke of the left parietal lobe, i.e., a biatrial myxoma with triple ripples.

  2. Revised Reynolds Stress and Triple Product Models

    Science.gov (United States)

    Olsen, Michael E.; Lillard, Randolph P.

    2017-01-01

    Revised versions of Lag methodology Reynolds-stress and triple product models are applied to accepted test cases to assess the improvement, or lack thereof, in the prediction capability of the models. The Bachalo-Johnson bump flow is shown as an example for this abstract submission.

  3. Minimal representations and Freudenthal triple systems

    International Nuclear Information System (INIS)

    Olive, D.

    2004-01-01

    Unitary representations of noncompact Lie groups have long been sought in physics. The first nice concrete construction was found by Dirac in connection with the anti-de Sitter group. Some subsequent generalizations will be described, in particular the minimal representation thought to be relevant to realising duality in supergravity superstring theories. A relation to Freudenthal triple systems will be described. (author)

  4. Triple-axis spectrometer DruechaL

    Energy Technology Data Exchange (ETDEWEB)

    Buehrer, W; Keller, P [Lab. for Neutron Scattering ETH Zurich, Zurich (Switzerland) and Paul Scherrer Institute, Villigen (Switzerland)

    1996-11-01

    DruechaL is a triple-axis spectrometer located at a cold guide. The characteristics of guide and instrument allow the use of a broad spectral range of neutrons. The resolution in momentum and energy transfer can be tuned to match the experimental requirements by using either collimators or focusing systems (monochromator, antitrumpet, analyser). (author) figs., tabs., refs.

  5. Discovering Steiner Triple Systems through Problem Solving

    Science.gov (United States)

    Sriraman, Bharath

    2004-01-01

    An attempt to implement problem solving as a teacher of ninth grade algebra is described. The problems selected were not general ones, they involved combinations and represented various situations and were more complex which lead to the discovery of Steiner triple systems.

  6. Genetic inhibition of PKA phosphorylation of RyR2 prevents dystrophic cardiomyopathy

    NARCIS (Netherlands)

    Sarma, Satyam; Li, Na; van Oort, Ralph J.; Reynolds, Corey; Skapura, Darlene G.; Wehrens, Xander H. T.

    2010-01-01

    Aberrant intracellular Ca(2+) regulation is believed to contribute to the development of cardiomyopathy in Duchenne muscular dystrophy. Here, we tested whether inhibition of protein kinase A (PKA) phosphorylation of ryanodine receptor type 2 (RyR2) prevents dystrophic cardiomyopathy by reducing SR

  7. Hypertrophic Cardiomyopathy Associated with Mid-cavity Obstruction and High Left Intraventricular Pressure

    Science.gov (United States)

    A. Bejiqi, Ramush; J. Retkoceri, Ragip; Sh. Bejiqi, Hana

    2011-01-01

    We report a case of a child, with a rare form of the idiopathic hypertrophic cardiomyopathy, associated with mid-cavity obstruction and high intraventricular peak pressure. Cardiomyopathy, diagnosed antenataly, was followed postnataly and, despite of a lot echocardiographic findings - the growing, development and clinical signs are minimal. PMID:23407799

  8. Hypertrophic Cardiomyopathy Associated with Mid-cavity Obstruction and High Left Intraventricular Pressure

    OpenAIRE

    A. Bejiqi, Ramush; J. Retkoceri, Ragip; Sh. Bejiqi, Hana

    2011-01-01

    We report a case of a child, with a rare form of the idiopathic hypertrophic cardiomyopathy, associated with mid-cavity obstruction and high intraventricular peak pressure. Cardiomyopathy, diagnosed antenataly, was followed postnataly and, despite of a lot echocardiographic findings - the growing, development and clinical signs are minimal.

  9. HYPERTROPHIC CARDIOMYOPATHY AS A PART OF INHERITED MALFORMATION SYNDROMES IN INFANTS

    Directory of Open Access Journals (Sweden)

    M.V. Tural'chuk

    2011-01-01

    Full Text Available The data of clinical and instrumental examination of two infantile patients with obstructive hypertrophic cardiomyopathy in association with marked multisystem involvement as a picture of inherited malformation syndromes are given.Key words: infants, hypertrophic cardiomyopathy, LEOPARD syndrome, Noonan syndrome.(Voprosy sovremennoi pediatrii — Current Pediatrics. 2011; 10 (3: 166–169

  10. Muscle Stem Cell Therapy for the Treatment of DMD Associated Cardiomyopathy

    Science.gov (United States)

    2014-10-01

    cardiomyopathy. Duchenne muscular dystrophy (DMD), one of the progressive muscular dystrophies , is an X-linked muscle disease caused by mutations in the...including Duchenne muscular dystrophy (DMD), develop progressive cardiomyopathy. Cellular cardiomyoplasty, which involves the transplantation of...hepatic failure in a clinically relevant non-human primate model of this process. 15. SUBJECT TERMS Project 1: Duchenne muscular dystrophy

  11. Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.

    Science.gov (United States)

    Bang, Marie-Louise

    2017-01-01

    The cardiac Z-line at the boundary between sarcomeres is a multiprotein complex connecting the contractile apparatus with the cytoskeleton and the extracellular matrix. The Z-line is important for efficient force generation and transmission as well as the maintenance of structural stability and integrity. Furthermore, it is a nodal point for intracellular signaling, in particular mechanosensing and mechanotransduction. Mutations in various genes encoding Z-line proteins have been associated with different cardiomyopathies, including dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, restrictive cardiomyopathy, and left ventricular noncompaction, and mutations even within the same gene can cause widely different pathologies. Animal models have contributed to a great advancement in the understanding of the physiological function of Z-line proteins and the pathways leading from mutations in Z-line proteins to cardiomyopathy, although genotype-phenotype prediction remains a great challenge. This review presents an overview of the currently available animal models for Z-line and Z-line associated proteins involved in human cardiomyopathies with special emphasis on knock-in and transgenic mouse models recapitulating the clinical phenotypes of human cardiomyopathy patients carrying mutations in Z-line proteins. Pros and cons of mouse models will be discussed and a future outlook will be given. J. Cell. Physiol. 232: 38-52, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  12. Current and future role of echocardiography in arrhythmogenic right ventricular dysplasia/cardiomyopathy

    NARCIS (Netherlands)

    Mast, Thomas P.; Teske, Arco J.; Doevendans, Pieter A.; Cramer, Maarten J.

    Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited progressive cardiomyopathy, clinically characterized by ventricular arrhythmias and increased risk of sudden cardiac death. Echocardiography has a role in the diagnosis and prognosis of ARVD/C. However, in the current

  13. Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Lars A. Dejgaard

    2017-12-01

    Full Text Available Data presented in this paper are supplementary material to our study “Vigorous exercise in patients with hypertrophic cardiomyopathy” [1]. The current article presents supplementary data on collection and analyses of exercise parameters and genetic data in the original research article. Keywords: Hypertrophic cardiomyopathy, Exercise, Genetics, Arrhythmia

  14. Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy

    DEFF Research Database (Denmark)

    Lakdawala, Neal K; Thune, Jens J; Colan, Steven D

    2012-01-01

    Sarcomere mutations cause both dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM); however, the steps leading from mutation to disease are not well described. By studying mutation carriers before a clinical diagnosis develops, we characterize the early manifestations of sarcomere...... mutations in DCM and investigate how these manifestations differ from sarcomere mutations associated with HCM....

  15. Stress (Tako-Tsubo) Cardiomyopathy Following Radiofrequency Ablation of a Liver Tumor: A Case Report

    International Nuclear Information System (INIS)

    Joo, Ijin; Lee, Jeong Min; Han, Joon Koo; Choi, Byung Ihn; Park, Eun-Ah

    2011-01-01

    Stress cardiomyopathy is characterized by transient left ventricular dysfunction occurring in the absence of obstructive coronary disease. It is precipitated by acute emotional or physical stress. We present a case of stress cardiomyopathy which developed during hepatic radiofrequency ablation of hepatocellular carcinoma.

  16. Survival and sudden cardiac death after septal ablation for hypertrophic obstructive cardiomyopathy

    DEFF Research Database (Denmark)

    Jensen, Morten Kvistholm; Havndrup, Ole; Hassager, Christian

    2011-01-01

    Reports of long-term survival and the risk of sudden cardiac death (SCD) after percutaneous transluminal septal myocardial ablation (PTSMA) in patients with hypertrophic obstructive cardiomyopathy (HOCM) are sparse.......Reports of long-term survival and the risk of sudden cardiac death (SCD) after percutaneous transluminal septal myocardial ablation (PTSMA) in patients with hypertrophic obstructive cardiomyopathy (HOCM) are sparse....

  17. In regard to the question of macroscopic differential diagnosis of alcoholic and dilated cardiomyopathy

    Directory of Open Access Journals (Sweden)

    O. V. Sokolova

    2014-01-01

    Full Text Available The differential diagnosis of alcoholic and dilated cardiomyopathy according to the macroscopic data is represented in the article. The identity of macroscopic changes of heart, related to alcoholic and dilated cardiomyopathy, cannot diagnose these diseases based on the macroscopic characteristics; especially if there are no other visceral manifestations typical for chronic alcoholism.

  18. Hypertrophic Obstructive Cardiomyopathy Masked by Tako-Tsubo Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Y. Daralammori

    2012-01-01

    Full Text Available Introduction. Left ventricular outflow obstruction might be part of the pathophysiological mechanism of Tako-tsubo cardiomyopathy. This obstruction can be masked by Tako-tsubo cardiomyopathy and diagnosed only by followup. Case Presentation. A 70-year-old female presented with Tako-tsubo cardiomyopathy and masked obstructive hypertrophic cardiomyopathy at presentation. Conclusion. Tako-tsubo cardiomyopathy typically presents like an acute MI and is characterized by severe, but transient, regional left ventricular systolic dysfunction. Prompt evaluation of the coronary status is, therefore, mandatory. The prognosis under medical treatment of heart failure symptoms and watchful waiting is favourable. Previous studies showed that LVOT obstruction might be part of the pathophysiological mechanism of TCM. This paper supports this theory. However, TCM may also mask any preexisting LVOT obstruction.

  19. Frequency and echocardiographic study of dilated cardiomyopathy in children presenting with cardiac failure

    International Nuclear Information System (INIS)

    Khan, M.A.; Mohammad, J.; Hussain, M.

    2004-01-01

    Objective: To evaluate the role of echocardiography in diagnosis of dilated cardiomyopathy as a cause of cardiac failure in children. Design: This was descriptive study. Children presenting with cardiac failure from indoor patients were selected and echocardiography along with chest X- ray, ECG, cardiac enzymes and ASO titre was performed in all patients. Subject: Fifty hospitalized patients with congestive heart failure were selected consecutively from hospitalized patients. Main Outcome: Role of echocardiography in the diagnosis of dilated cardiomyopathy in children presenting with cardiac failure. Results: Out of fifty patients admitted with cardiac failure 27 (54%) cases were found to be dilated cardiomyopathy while congenital heart disease, myocarditis and rheumatic heart disease were found in 12 (24%), 8 (16%) and 3 (6%) cases respectively. Conclusion: Dilated cardiomyopathy is an important cause of cardiac failure in children and echocardiography is an important tool to diagnose and differentiate dilated cardiomyopathy from other causes of cardiac failure. (author)

  20. Chronic kidney disease of unknown aetiology and ground-water ionicity: study based on Sri Lanka.

    Science.gov (United States)

    Dharma-Wardana, M W C; Amarasiri, Sarath L; Dharmawardene, Nande; Panabokke, C R

    2015-04-01

    High incidence of chronic kidney disease of unknown aetiology (CKDU) in Sri Lanka is shown to correlate with the presence of irrigation works and rivers that bring-in 'nonpoint source' fertilizer runoff from intensely agricultural regions. We review previous attempts to link CKDU with As, Cd and other standard toxins. Those studies (e.g. the WHO-sponsored study), while providing a wealth of data, are inconclusive in regard to aetiology. Here, we present new proposals based on increased ionicity of drinking water due to fertilizer runoff into the river system, redox processes in the soil and features of 'tank'-cascades and aquifers. The consequent chronic exposure to high ionicity in drinking water is proposed to debilitate the kidney via a Hofmeister-type (i.e. protein-denaturing) mechanism.

  1. The problems of urinary tract infections with Candida spp. aetiology in women.

    Science.gov (United States)

    Tomczak, Hanna; Szałek, Edyta; Grześkowiak, Edmund

    2014-08-29

    Urinary tract infections (UTIs) in women are a growing clinical concern. The most frequent risk factors of UTIs with fungal aetiology in women are: antibiotic therapy (especially broad-spectrum antibiotics), immunosuppressive therapy, diabetes, malnutrition, pregnancy, and frequent intercourse. The aim of the study was to analyse urinary tract infections with Candida spp. aetiology in women hospitalised at the Clinical Hospital in Poznań, Poland, between 2009 and 2011. The investigations revealed that as many as 71% of positive urine cultures with Candida fungi came from women. The following fungi were most frequently isolated from the patients under analysis: C. albicans (47%), C. glabrata (31%), C. tropicalis (6%), C. krusei (3%). In order to diagnose a UTI the diagnosis cannot be based on a single result of a urine culture. Due to the small number of antifungal drugs and high costs of treatment, antifungal drugs should be applied with due consideration and care.

  2. The contribution of twin studies to the understanding of the aetiology of asthma and atopic diseases

    DEFF Research Database (Denmark)

    Thomsen, Simon F

    2015-01-01

    The prevalence of asthma and other atopic diseases has increased markedly during the past decades and the reasons for this are not fully understood. Asthma is still increasing in many parts of the world, notably in developing countries, and this emphasizes the importance of continuing research...... aimed at studying the aetiological factors of the disease and the causes of its increase in prevalence. Twin studies enable investigations into the genetic and environmental causes of individual variation in multifactorial diseases such as asthma. Thorough insight into these causes is important...... as this will ultimately guide the development of preventive strategies and targeted therapies. This review explores the contribution of twin studies to the understanding of the aetiology of asthma and atopic diseases....

  3. Aetiology and pathology of otitis media with effusion in adult life.

    Science.gov (United States)

    Mills, R; Hathorn, I

    2016-05-01

    To gather and analyse information concerning the aetiology and pathology of otitis media with effusion in adults. A review of the English language literature from 1970 to the present was conducted. The available evidence suggests that otitis media with effusion in adult life is best viewed as a syndrome with a number of causes, including: infiltration of the eustachian tube by nasopharyngeal carcinoma and other local malignancies; changes in the middle ear and eustachian tube induced by radiotherapy; and systemic disease. There is now a body of evidence specifically related to the aetiology and pathology of otitis media with effusion in adult life. However, further research is required to fill in the gaps in our knowledge and understanding of this condition.

  4. The aetiology of acute and chronic pancreatitis over time in a hospital in Copenhagen

    DEFF Research Database (Denmark)

    Nøjgaard, Camilla; Bendtsen, Flemming; Matzen, Peter

    2010-01-01

    : Gallstone disease significantly (p = 0.04) increased as the cause of acute pancreatitis over the 22-year period, while alcohol remained the major cause of chronic pancreatitis. The validity of the diagnoses for patients with acute pancreatitis varied between 51% and 73%, and for chronic pancreatitis between......INTRODUCTION: The change in aetiology over time of acute and chronic pancreatitis has been sparsely described, as has also the validity of the diagnostic codes. The aim of the study was 1) to clarify whether the aetiology of acute and chronic pancreatitis changed during the period 1983-2005, and 2......) to validate the diagnostic codes over time for acute and chronic pancreatitis registered in the Danish National Patient Registry (NPR) in the same period. MATERIAL AND METHODS: All admissions at Hvidovre Hospital coded in the NPR in 1983, 1994 and 2005 with a diagnosis of either acute or chronic pancreatitis...

  5. AETIOLOGY OF ACQUIRED LOWER MOTOR NEURON TYPE OF FACIAL NERVE PARALYSIS– A DESCRIPTIVE STUDY

    Directory of Open Access Journals (Sweden)

    Arya Devi Karangat

    2018-02-01

    Full Text Available BACKGROUND This study was conducted to evaluate the various aetiologies of acquired lower motor neuron type of facial nerve paralysis, assessment of severity of lesion and outcome through follow up. 47 patients between 15-75 years were studied. MATERIALS AND METHODS All patients with acquired LMN facial paralysis who presented to our department were included in the study. They were evaluated with history, clinical examination and investigations. They were treated and followed up for a period of 6 months. RESULTS The most common aetiology identified for facial palsy was trauma which was non-iatrogenic. The anatomic level which predominated in our patients was infrastapedial. Maximum number of patients presented with grade 4 facial palsy. CONCLUSION Non- iatrogenic trauma was the most common cause among the patients studied and follow up of these patients had a good recovery of 60%.

  6. The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies.

    Science.gov (United States)

    Charron, Philippe; Elliott, Perry M; Gimeno, Juan R; Caforio, Alida L P; Kaski, Juan Pablo; Tavazzi, Luigi; Tendera, Michal; Maupain, Carole; Laroche, Cécile; Rubis, Pawel; Jurcut, Ruxandra; Calò, Leonardo; Heliö, Tiina M; Sinagra, Gianfranco; Zdravkovic, Marija; Kavoliuniene, Aušra; Felix, Stephan B; Grzybowski, Jacek; Losi, Maria-Angela; Asselbergs, Folkert W; García-Pinilla, José Manuel; Salazar-Mendiguchia, Joel; Mizia-Stec, Katarzyna; Maggioni, Aldo P

    2018-05-21

    The Cardiomyopathy Registry of the EURObservational Research Programme is a prospective, observational, and multinational registry of consecutive patients with four cardiomyopathy subtypes: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM). We report the baseline characteristics and management of adults enrolled in the registry. A total of 3208 patients were enrolled by 69 centres in 18 countries [HCM (n = 1739); DCM (n = 1260); ARVC (n = 143); and RCM (n = 66)]. Differences between cardiomyopathy subtypes (P < 0.001) were observed for age at diagnosis, history of familial disease, history of sustained ventricular arrhythmia, use of magnetic resonance imaging or genetic testing, and implantation of defibrillators. When compared with probands, relatives had a lower age at diagnosis (P < 0.001), but a similar rate of symptoms and defibrillators. When compared with the Long-Term phase, patients of the Pilot phase (enrolled in more expert centres) had a more frequent rate of familial disease (P < 0.001), were more frequently diagnosed with a rare underlying disease (P < 0.001), and more frequently implanted with a defibrillator (P = 0.023). Comparing four geographical areas, patients from Southern Europe had a familial disease more frequently (P < 0.001), were more frequently diagnosed in the context of a family screening (P < 0.001), and more frequently diagnosed with a rare underlying disease (P < 0.001). By providing contemporary observational data on characteristics and management of patients with cardiomyopathies, the registry provides a platform for the evaluation of guideline implementation. Potential gaps with existing recommendations are discussed as well as some suggestions for improvement of health care provision in Europe.

  7. Panhypopituitarism due to Absence of the Pituitary Stalk: A Rare Aetiology of Liver Cirrhosis.

    Science.gov (United States)

    Gonzalez Rozas, Marta; Hernanz Roman, Lidia; Gonzalez, Diego Gonzalez; Pérez-Castrillón, José Luis

    2016-01-01

    Studies have established a relationship between hypothalamic-pituitary dysfunction and the onset of liver damage, which may occasionally progress to cirrhosis. Patients with hypopituitarism can develop a metabolic syndrome-like phenotype. Insulin resistance is the main pathophysiological axis of metabolic syndrome and is the causal factor in the development of nonalcoholic fatty liver disease (NAFLD). We present the case of a young patient with liver cirrhosis of unknown aetiology that was finally attributed to panhypopituitarism.

  8. Panhypopituitarism due to Absence of the Pituitary Stalk: A Rare Aetiology of Liver Cirrhosis

    Directory of Open Access Journals (Sweden)

    Marta Gonzalez Rozas

    2016-01-01

    Full Text Available Studies have established a relationship between hypothalamic-pituitary dysfunction and the onset of liver damage, which may occasionally progress to cirrhosis. Patients with hypopituitarism can develop a metabolic syndrome-like phenotype. Insulin resistance is the main pathophysiological axis of metabolic syndrome and is the causal factor in the development of nonalcoholic fatty liver disease (NAFLD. We present the case of a young patient with liver cirrhosis of unknown aetiology that was finally attributed to panhypopituitarism.

  9. Clinical profile and aetiology of optic neuritis in Hospital Universiti Sains Malaysia--5 years review.

    Science.gov (United States)

    Ismail, Shatriah; Wan Hazabbah, Wan Hitam; Muhd-Nor, Nor-Idahriani; Daud, Jakiyah; Embong, Zunaina

    2012-04-01

    Although few studies concerning optic neuritis (ON) in Asian countries have been reported, there is no report about ON in Malaysia particularly within the Malay population. We aimed to determine the clinical manifestation, visual outcome and aetiology of ON in Malays, and discussed the literature of ON studies in other Asian populations. This was a retrospective study involving 31 consecutive patients (41 eyes) with ON treated at Hospital Universiti Sains Malaysia commencing from July 2005 till January 2010 with a period of follow-up ranging from 18-60 months. The clinical features, laboratory results, possible aetiology, and visual acuity after one year were analysed. Females were the predominant group. The age of the patients ranged between 3-55 years and peaked between 21-30 years old. 67.7% of the patients had unilateral involvement. Pain on ocular movement was observed in 31.7% of the affected eyes. 73.3% of 41 involved eyes showed visual acuity equal 6/60 or worse on presentation. Paracentral scotoma was the most common visual field defect noted. Optic disc papillitis proved more widespread compared to the retrobulbar type of ON. The aetiology was idiopathic in more than 50%, while the risk of multiple sclerosis was extremely low (3.2%) in our series. 66.0% demonstrating visual acuity improved to 6/12 or better at one year after the attack. 16.1% showed evidence of recurrence during follow-up. In conclusion, the clinical profile and aetiology of ON in Malay patients are comparable to other ON studies reported by other Asian countries.

  10. New data on aetiology of nodular gill disease in rainbow trout, Oncorhynchus mykiss

    Czech Academy of Sciences Publication Activity Database

    Dyková, Iva; Kostka, Martin; Wortberg, F.; Nardy, E.; Pecková, Hana

    2010-01-01

    Roč. 57, č. 3 (2010), s. 157-163 ISSN 0015-5683 R&D Projects: GA ČR GA524/09/0137; GA MŠk LC522 Institutional research plan: CEZ:AV0Z60220518 Keywords : nodular gill disease * aetiological study * amoebae * Naegleria sp. * fish diseases * aquaculture * Oncorhynchus mykiss Subject RIV: GJ - Animal Vermins ; Diseases, Veterinary Medicine Impact factor: 1.533, year: 2010

  11. An Upgrade on the Rabbit Model of Anthracycline-Induced Cardiomyopathy: Shorter Protocol, Reduced Mortality, and Higher Incidence of Overt Dilated Cardiomyopathy

    Science.gov (United States)

    Talavera, Jesús; Fernández-Del-Palacio, María Josefa; García-Nicolás, Obdulio; Seva, Juan; Brooks, Gavin; Moraleda, Jose M.

    2015-01-01

    Current protocols of anthracycline-induced cardiomyopathy in rabbits present with high premature mortality and nephrotoxicity, thus rendering them unsuitable for studies requiring long-term functional evaluation of myocardial function (e.g., stem cell therapy). We compared two previously described protocols to an in-house developed protocol in three groups: Group DOX2 received doxorubicin 2 mg/kg/week (8 weeks); Group DAU3 received daunorubicin 3 mg/kg/week (10 weeks); and Group DAU4 received daunorubicin 4 mg/kg/week (6 weeks). A cohort of rabbits received saline (control). Results of blood tests, cardiac troponin I, echocardiography, and histopathology were analysed. Whilst DOX2 and DAU3 rabbits showed high premature mortality (50% and 33%, resp.), DAU4 rabbits showed 7.6% premature mortality. None of DOX2 rabbits developed overt dilated cardiomyopathy; 66% of DAU3 rabbits developed overt dilated cardiomyopathy and quickly progressed to severe congestive heart failure. Interestingly, 92% of DAU4 rabbits showed overt dilated cardiomyopathy and 67% developed congestive heart failure exhibiting stable disease. DOX2 and DAU3 rabbits showed alterations of renal function, with DAU3 also exhibiting hepatic function compromise. Thus, a shortened protocol of anthracycline-induced cardiomyopathy as in DAU4 group results in high incidence of overt dilated cardiomyopathy, which insidiously progressed to congestive heart failure, associated to reduced systemic compromise and very low premature mortality. PMID:26788502

  12. Non-traumatic cortical subarachnoid haemorrhage: diagnostic work-up and aetiological background

    Energy Technology Data Exchange (ETDEWEB)

    Spitzer, C.; Kosinski, C.M. [University Hospital of RWTH Aachen, Department of Neurology, Aachen (Germany); Mull, M. [University Hospital of RWTH Aachen, Department of Neuroradiology, Aachen (Germany); Rohde, V. [University Hospital of RWTH Aachen, Department of Neurosurgery, Aachen (Germany)

    2005-07-01

    Only 15% of all subarachnoid haemorrhages (SAHs) are not of aneurysmal origin. Among those, circumscribed SAHs along the cortical convexity are rare and have only been described in singular case reports so far. Here, we present a collection of 12 cases of SAH along the convexity, of non-traumatic origin. Over a period of 10 years, 12 cases of circumscribed SAH along the convexity were identified at our clinic. The clinical presentations, neuroradiological SAH characteristics, further diagnostic work-up to identify the underlying aetiologies, the therapy and clinical outcome were analysed. The patients' chief complaints were unspecific cephalgia, focal or generalised seizures and focal neurological deficits. Typical signs of basal SAH, such as nuchal rigidity, thunderclap-headache or alteration of consciousness, were rare. Magnetic resonance imaging (MRI) and digital subtraction angiography (DSA) revealed different aetiologies, namely postpartal posterior encephalopathy (three), cerebral vasculitis (two), dural sinus thrombosis (two), cortical venous thrombosis (one), intracerebral abscesses (one) and cerebral cavernoma (one). Two cases remained unresolved. Treatment of the underlying disease and symptomatic medication led to good clinical outcome in almost all cases. On the basis of these findings, we demonstrate that the clinical presentation, localisation and aetiology of cortical SAH differ clearly from other SAHs. A diagnostic work-up with MRI and eventually DSA is essential. Mostly, the causative disease can be identified, and specific treatment allows a favourable outcome. (orig.)

  13. An investigation into febrile illnesses of unknown aetiology in Wipim, Papua New Guinea.

    Science.gov (United States)

    Bande, Grace; Hetzel, Manuel W; Iga, Jonah; Barnadas, Celine; Mueller, Ivo; Siba, Peter M; Horwood, Paul F

    2014-01-01

    In Papua New Guinea the aetiology of febrile illnesses remains poorly characterized, mostly due to poor diagnostic facilities and the inaccessibility of much of the rural areas of the country. We investigated the aetiological agents of febrile illnesses for 136 people presenting to Wipim Health Centre in Western Province, Papua New Guinea. Arboviral and rickettsial real-time polymerase chain reaction (PCR) assays, malaria blood smears and a malaria PCR test were used to identify pathogens associated with a history of fever. In 13% (n = 18) of cases an aetiological agent was identified. Dengue virus type 1 was detected in 11% (n = 15) of the samples tested and malaria in 2% (n = 3). None of the other arboviral or rickettsial pathogens tested for were detected in any of the samples. Although dengue viruses have been identified in Papua New Guinea using serological methods, this study represents the first direct detection of dengue in the country. The detection of malaria, on the other hand, was surprisingly low considering the previous notion that this was a hyperendemic region of Papua New Guinea.

  14. Massive immunoglobulin treatment in women with four or more recurrent spontaneous primary abortions of unexplained aetiology.

    Science.gov (United States)

    Yamada, H; Kishida, T; Kobayashi, N; Kato, E H; Hoshi, N; Fujimoto, S

    1998-09-01

    The aim of this trial was to investigate the efficacy of massive i.v. immunoglobulin (MIVIg) treatment for women with a history of recurrent spontaneous abortion (RSA) due to unexplained aetiology. The study included nine women (11 pregnancies) with a history of four or more consecutive RSA with unexplained aetiology and no live births. The mean number of fetal losses was 4.5 (range 4-6 abortions). Over the course of 5 days, immunoglobulin (20 g/day) was infused i.v. at gestational weeks 4-7. No additional infusions were carried out. Two pregnancies out of the 11 conceptions resulted in missed abortions at gestational weeks 6 and 7 respectively. Mosaicism (46XX/ 48XX, +16, +20), and tetraploidy (92XXXX) were found by chromosome analyses of the two aborti. Eight out of the other nine pregnancies resulted in full term deliveries of healthy neonates. One pregnancy developed intrauterine growth retardation and fetal distress, resulting in a premature delivery (30 gestational weeks) by Caesarean section. Thus, excluding the two abortions with chromosome aberrations, the MIVIg treatment was effective in all nine pregnancies of RSA women with unexplained aetiology. This MIVIg treatment (100 g administered in early gestation) may be a beneficial alternative to previous IVIg infusion methods, and should be further evaluated in a multicentric, placebo-controlled study, employing a larger number of homogeneous patients who fall into a high risk category of first trimester abortions.

  15. A STUDY ON CLINICAL AND AETIOLOGICAL PROFILE OF HYPOKALAEMIC PARALYSIS IN A TERTIARY CARE HOSPITAL

    Directory of Open Access Journals (Sweden)

    Kekathi Vidyasagar

    2016-08-01

    Full Text Available BACKGROUND Hypokalaemic periodic paralysis is a rare disorder characterised by transient attacks of flaccid paralysis of varying intensity and frequency. Although mostly familial in aetiology, several sporadic cases with different causes have been reported. There are two groups of disorders predominantly that causes hypokalaemic paralysis. One group is due to transcellular shift of potassium and other is due to loss of potassium from body either through GI tract or through renal system. MATERIAL AND METHODS Here we report a study on the clinical and aetiological profile of 30 cases of hypokalaemic paralysis admitted in our institution between January 2014 to January 2016. RESULTS The aetiological workup of all the patients was done which revealed thyrotoxic periodic paralysis as the major cause in 12 of 30 patients. Three rare causes of hypokalaemia have been diagnosed which included Bartter’s syndrome, Mixed Connective tissue disorder, Sjogren’s syndrome. Vomiting and diarrhoea was seen in 12 of 30 patients. CONCLUSION Hypokalaemic periodic paralysis is a heterogenous group of disorder. A significant number of patients had thyroid disorders mostly in the form of thyrotoxicosis, non-renal and renal loss of potassium like diarrhoea and vomiting. Early recognition and prompt management of these conditions is essential to prevent residual deformity and further attacks in future.

  16. Simultaneous interstitial pneumonitis and cardiomyopathy induced by venlafaxine

    Directory of Open Access Journals (Sweden)

    Pedro Gonçalo Ferreira

    2014-06-01

    Full Text Available Venlafaxine is a serotonin-norepinephrine reuptake inhibitor used as an antidepressant. Interindividual variability and herb-drug interactions can lead to drug-induced toxicity. We report the case of a 35-year-old female patient diagnosed with synchronous pneumonitis and acute cardiomyopathy attributed to venlafaxine. The patient sought medical attention due to dyspnea and dry cough that started three months after initiating treatment with venlafaxine for depression. The patient was concomitantly taking Centella asiatica and Fucus vesiculosus as phytotherapeutic agents. Chest CT angiography and chest X-ray revealed parenchymal lung disease (diffuse micronodules and focal ground-glass opacities and simultaneous dilated cardiomyopathy. Ecocardiography revealed a left ventricular ejection fraction (LVEF of 21%. A thorough investigation was carried out, including BAL, imaging studies, autoimmune testing, right heart catheterization, and myocardial biopsy. After excluding other etiologies and applying the Naranjo Adverse Drug Reaction Probability Scale, a diagnosis of synchronous pneumonitis/cardiomyopathy associated with venlafaxine was assumed. The herbal supplements taken by the patient have a known potential to inhibit cytochrome P450 enzyme complex, which is responsible for the metabolization of venlafaxine. After venlafaxine discontinuation, there was rapid improvement, with regression of the radiological abnormalities and normalization of the LVEF. This was an important case of drug-induced cardiopulmonary toxicity. The circumstantial intake of inhibitors of the CYP2D6 isoenzyme and the presence of a CYP2D6 slow metabolism phenotype might have resulted in the toxic accumulation of venlafaxine and the subsequent clinical manifestations. Here, we also discuss why macrophage-dominant phospholipidosis was the most likely mechanism of toxicity in this case.

  17. Riboflavin alleviates cardiac failure in Type I diabetic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Xue Zhao

    2011-09-01

    Full Text Available Heart failure (HF is a common and serious comorbidity of diabetes. Oxidative stress has been associated with the pathogenesis of chronic diabetic complications including cardiomyopathy. The ability of antioxidants to inhibit injury has raised the possibility of new therapeutic treatment for diabetic heart diseases. Riboflavin constitutes an essential nutrient for humans and animals and it is an important food additive. Riboflavin, a precursor of flavin mononucleotide (FMN and flavin adenine dinucleotide (FAD, enhances the oxidative folding and subsequent secretion of proteins. The objective of this study was to investigate the cardioprotective effect of riboflavin in diabetic rats. Diabetes was induced in 30 rats by a single injection of streptozotocin (STZ (70 mg /kg. Riboflavin (20 mg/kg was orally administered to animals immediately after induction of diabetes and was continued for eight weeks. Rats were examined for diabetic cardiomyopathy by left ventricular (LV remadynamic function. Myocardial oxidative stress was assessed by measuring the activity of superoxide dismutase (SOD, the level of malondialdehyde (MDA as well as heme oxygenase-1 (HO-1 protein level. Myocardial connective tissue growth factor (CTGF level was measured by Western blot in all rats at the end of the study. In the untreated diabetic rats, left ventricular systolic pressure (LVSP rate of pressure rose (+dp/dt, and rate of pressure decay (−dp/dt were depressed while left ventricular enddiastolic pressure (LVEDP was increased, which indicated the reduced left ventricular contractility and slowing of left ventricular relaxation. The level of SOD decreased, CTGF and HO-1 protein expression and MDA content rose. Riboflavin treatment significantly improved left ventricular systolic and diastolic function in diabetic rats, there were persistent increases in significant activation of SOD and the level of HO-1 protein, and a decrease in the level of CTGF. These results suggest

  18. Multidisciplinary assessment of tako tsubo cardiomyopathy: a prospective case study

    Directory of Open Access Journals (Sweden)

    Emilsson Kent

    2011-04-01

    Full Text Available Abstract Background The cause of tako tsubo cardiomyopathy remains unclear. We used a multidisciplinary approach to investigate if a common pathophysiological denominator could be outlined. Methods Within 3 days following symptom presentation and again after 3 months we investigated all patients coming to our institution and diagnosed with tako-tsubo cardiomyopathy. Patients underwent extensive biochemical screening. Left ventricular function was evaluated by echocardiography and contrast-enhanced cardiac magnetic resonance imaging. Cardiac autonomic function was studied by heart rate variability and signal-averaged electrocardiogram and posttraumatic stress and depression were investigated by questionnaires (the Posttraumatic Stress Syndrome 10-Questions Inventory, PTSS-10 and the Montgomery-Åsberg depression rating scale, self rated version, MADRS-S. Results During 2 years, 13 consecutive patients were included. Markers of myocardial damage and heart failure were slightly to moderately elevated and ejection fraction (echocardiography and MRi was moderately reduced at hospitalization and improved to normal values in all patients. Signal averaged ECG demonstrated a statistically significant shorter duration of the filtered QRS complex in the acute phase as compared to follow-up. In heart rate variability analysis, SDNN and SDANN were shorter acutely compared to follow-up. Two patients fulfilled criteria for posttraumatic stress syndrome while 7 patients were in the borderline zone. There was a statistically significant inverse correlation between PTSS-10 score and QRS duration in the signal-averaged ECG (r = -0.66, P = 0.01. Conclusions Patients with tako tsubo cardiomyopathy have altered cardiac autonomic function and a high incidence rate of borderline or definite posttraumatic stress syndrome acutely. This is in line with findings in patients with myocardial infarction and does not allow conclusions on cause and effect.

  19. Efficacy of Gd-DTPA-enhanced MRI in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Okamoto, Shinya; Aoki, Toshikazu; Konishi, Tokuji; Nakano, Takeshi; Yamakado, Kyoichiro; Sakuma, Hajime; Takeda, Kann; Nakagawa, Takashi

    1991-01-01

    The cabability of magnetic resonance (MR) imaging to detect tissue characterization or myocardial degeneration process of the hypertrophied myocardium was evaluated in 15 patients with hypertrophic cardiomyopathy. T1-weighted MR images were obtained with a 1.5 T MR unit by using ECG-gated spin-echo techniques. MR images were visually reviewed before and after enhancement of Gd-DTPA. Four patients had an increase in signal intensity mainly in the endocardium of the left ventricular septum on non-enhanced MR images, 3 of whom had widespread high intensity in addition to two-thirds of the wall. Gd-DTPA enhanced-MR images showed high intensity over the whole septum in 5 patients and also in the antero-lateral endocardium in 4 patients. Decreased intensity on non-enhanced MR images, as shown in 4 patients, became clear on enhanced-MR images. According to findings on enhanced-MR images, signal intensity was defined as normal (N), septum (S), and diffuse (D). Patients in Group D tended to be younger and have more frequently family history. Regarding both interventricular septum thickness and left ventricular posterior wall thickness, there was no significant difference among the three groups. Both left ventricular diastolic diameter and left ventricular systolic diameter were significantly larger in Group D than the other two groups. Left ventricular ejection fraction was significantly lower in both Group S and Group D. Widespread abnormal intensity on Gd-DTPA enhanced MR images was associated with findings similar to dilated cardiomyopathy, such as dilated left ventricular lumen and decreased ejection fraction. Gd-DTPA enhanced MR imaging seemed to be useful for visualizing myocardial degeneration in hypertrophic cardiomyopathy.(N.K.)

  20. Evaluation of the diagnosis for hypertrophic cardiomyopathy (HCM) with SPECT

    International Nuclear Information System (INIS)

    Li Jiaxiu

    1992-01-01

    A heart phantom-7070 was used to measure the wall thickness of cardiac chambers. Two methods were employed: (1) profile curve measurement, (2) calculation of the thickness of cardiac walls. 9 normal cases and 13 patients with hypertrophic cardiomyopathy were studied using 99m Tc-CDI SPECT. 4 patterns were obtained: (1) Local hypertrophy of ventricular septum; (2) The predominant hypertrophy localized in left ventricular lateral wall; (3) Markedly hypertrophied septum and also involving left ventricular walls, especially the apical region; (4) Markedly hypertrophied papillary muscles with perfusion defects in the left wall and septum. These results suggest that myocardial SPECT is a promising and noninvasive method for the diagnosis of HCM

  1. The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study

    DEFF Research Database (Denmark)

    Hedley, Paula L; Haundrup, Ole; Andersen, Paal S

    2011-01-01

    The gene family KCNE1-5, which encode modulating β-subunits of several repolarising K+-ion channels, has been associated with genetic cardiac diseases such as long QT syndrome, atrial fibrillation and Brugada syndrome. The minK peptide, encoded by KCNE1, is attached to the Z-disc of the sarcomere...... as well as the T-tubules of the sarcolemma. It has been suggested that minK forms part of an "electro-mechanical feed-back" which links cardiomyocyte stretching to changes in ion channel function. We examined whether mutations in KCNE genes were associated with hypertrophic cardiomyopathy (HCM), a genetic...

  2. Dilated cardiomyopathy as part of familial dystrophia myotonica

    DEFF Research Database (Denmark)

    Gadgaard, Tenna; Eiskjær, Hans; Jensen, Peter Kjestrup Axel

    2014-01-01

    Dilated cardiomyopathy (DCM) is a condition characterized by non-ischaemic heart failure and is often hereditary. We present a family in which the proband had DCM in isolation while several relatives presented with myotonia, hypotonia, poly-hydramnion during pregnancy or a mental handicap....... The disease presentation and subsequent genetic investigations were consistent with a diagnosis of dystrophia myotonica. This case presentation illustrate that DCM may be part of a systemic condition and that familial investigations may have important implications for correct diagnosis, treatment...

  3. A Family History of Dilated Cardiomyopathy Induced by Viral Myocarditis

    Directory of Open Access Journals (Sweden)

    Thomas Cognet

    2012-01-01

    Full Text Available Myocarditis can lead to acute heart failure, cardiogenic shock, or sudden death and later, dilated cardiomyopathy (DCM with chronic heart failure. We report the cases of two DCM induced by acute and past myocarditis in the same family and expressed by its two main complications within few weeks: an hemodynamic presentation as a fulminant myocarditis rapidly leading to cardiac tranplantation and a rythmologic presentation as an electrical storm leading to catheter ablation of ventricular tachycardia. These cases ask the question of the family predisposition to viral myocarditis leading to DCM.

  4. FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Rene L. Begay, BS

    2016-08-01

    Full Text Available A genetic etiology has been identified in 30% to 40% of dilated cardiomyopathy (DCM patients, yet only 50% of these cases are associated with a known causative gene variant. Thus, in order to understand the pathophysiology of DCM, it is necessary to identify and characterize additional genes. In this study, whole exome sequencing in combination with segregation analysis was used to identify mutations in a novel gene, filamin C (FLNC, resulting in a cardiac-restricted DCM pathology. Here we provide functional data via zebrafish studies and protein analysis to support a model implicating FLNC haploinsufficiency as a mechanism of DCM.

  5. Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Hagen, Christian M; Aidt, Frederik H; Havndrup, Ole

    2015-01-01

    Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disease primarily caused by mutations in genes coding for sarcomeric proteins. A molecular-genetic etiology can be established in ~60% of cases. Evolutionarily conserved mitochondrial DNA (mtDNA) haplogroups are susceptibility factors for HCM......>G, and MT-CYB: m.15024G>A, p.C93Y remained. A detailed analysis of these variants indicated that none of them are likely to cause HCM. In conclusion, private mtDNA mutations are frequent, but they are rarely, if ever, associated with HCM....

  6. Genotype-specific pathogenic effects in human dilated cardiomyopathy.

    Science.gov (United States)

    Bollen, Ilse A E; Schuldt, Maike; Harakalova, Magdalena; Vink, Aryan; Asselbergs, Folkert W; Pinto, Jose R; Krüger, Martina; Kuster, Diederik W D; van der Velden, Jolanda

    2017-07-15

    Mutations in genes encoding cardiac troponin I (TNNI3) and cardiac troponin T (TNNT2) caused altered troponin protein stoichiometry in patients with dilated cardiomyopathy. TNNI3 p.98trunc resulted in haploinsufficiency, increased Ca 2+ -sensitivity and reduced length-dependent activation. TNNT2 p.K217del caused increased passive tension. A mutation in the gene encoding Lamin A/C (LMNA p.R331Q ) led to reduced maximal force development through secondary disease remodelling in patients suffering from dilated cardiomyopathy. Our study shows that different gene mutations induce dilated cardiomyopathy via diverse cellular pathways. Dilated cardiomyopathy (DCM) can be caused by mutations in sarcomeric and non-sarcomeric genes. In this study we defined the pathogenic effects of three DCM-causing mutations: the sarcomeric mutations in genes encoding cardiac troponin I (TNNI3 p.98truncation ) and cardiac troponin T (TNNT2 p.K217deletion ; also known as the p.K210del) and the non-sarcomeric gene mutation encoding lamin A/C (LMNA p.R331Q ). We assessed sarcomeric protein expression and phosphorylation and contractile behaviour in single membrane-permeabilized cardiomyocytes in human left ventricular heart tissue. Exchange with recombinant troponin complex was used to establish the direct pathogenic effects of the mutations in TNNI3 and TNNT2. The TNNI3 p.98trunc and TNNT2 p.K217del mutation showed reduced expression of troponin I to 39% and 51%, troponin T to 64% and 53%, and troponin C to 73% and 97% of controls, respectively, and altered stoichiometry between the three cardiac troponin subunits. The TNNI3 p.98trunc showed pure haploinsufficiency, increased Ca 2+ -sensitivity and impaired length-dependent activation. The TNNT2 p.K217del mutation showed a significant increase in passive tension that was not due to changes in titin isoform composition or phosphorylation. Exchange with wild-type troponin complex corrected troponin protein levels to 83% of controls in the TNNI3

  7. Genotype‐specific pathogenic effects in human dilated cardiomyopathy

    Science.gov (United States)

    Schuldt, Maike; Harakalova, Magdalena; Vink, Aryan; Asselbergs, Folkert W.; Pinto, Jose R.; Krüger, Martina; Kuster, Diederik W. D.; van der Velden, Jolanda

    2017-01-01

    Key points Mutations in genes encoding cardiac troponin I (TNNI3) and cardiac troponin T (TNNT2) caused altered troponin protein stoichiometry in patients with dilated cardiomyopathy. TNNI3p.98trunc resulted in haploinsufficiency, increased Ca2+‐sensitivity and reduced length‐dependent activation. TNNT2p.K217del caused increased passive tension.A mutation in the gene encoding Lamin A/C (LMNA p.R331Q) led to reduced maximal force development through secondary disease remodelling in patients suffering from dilated cardiomyopathy.Our study shows that different gene mutations induce dilated cardiomyopathy via diverse cellular pathways. Abstract Dilated cardiomyopathy (DCM) can be caused by mutations in sarcomeric and non‐sarcomeric genes. In this study we defined the pathogenic effects of three DCM‐causing mutations: the sarcomeric mutations in genes encoding cardiac troponin I (TNNI3p.98truncation) and cardiac troponin T (TNNT2p.K217deletion; also known as the p.K210del) and the non‐sarcomeric gene mutation encoding lamin A/C (LMNAp.R331Q). We assessed sarcomeric protein expression and phosphorylation and contractile behaviour in single membrane‐permeabilized cardiomyocytes in human left ventricular heart tissue. Exchange with recombinant troponin complex was used to establish the direct pathogenic effects of the mutations in TNNI3 and TNNT2. The TNNI3p.98trunc and TNNT2p.K217del mutation showed reduced expression of troponin I to 39% and 51%, troponin T to 64% and 53%, and troponin C to 73% and 97% of controls, respectively, and altered stoichiometry between the three cardiac troponin subunits. The TNNI3p.98trunc showed pure haploinsufficiency, increased Ca2+‐sensitivity and impaired length‐dependent activation. The TNNT2p.K217del mutation showed a significant increase in passive tension that was not due to changes in titin isoform composition or phosphorylation. Exchange with wild‐type troponin complex corrected troponin protein levels to 83% of

  8. Advanced quantitative echocardiography in arrhythmogenic right ventricular cardiomyopathy

    DEFF Research Database (Denmark)

    Kjaergaard, Jesper; Hastrup Svendsen, Jesper; Sogaard, Peter

    2007-01-01

    BACKGROUND: Arrhythmogenic right ventricular (RV) cardiomyopathy (ARVC) is a regional disease of the RV myocardium with variable degrees of left ventricular involvement. Three-dimensional echocardiography and Doppler tissue imaging (DTI) are new echocardiographic modalities for the evaluation......, patients with ARVC had a decreased RV ejection fraction (0.47 +/- 0.08 vs 0.53 +/- 0.05, P vs 15.1 +/- 3.7 cm/s, P left ventricle (7.0 +/- 2.6 vs 9.5 +/- 1.9 cm/s, P ... of the longitudinal motility appears to be a sensitive marker of preclinical left ventricular involvement....

  9. Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome.

    Science.gov (United States)

    Skyllouriotis, M L; Marx, M; Bittner, R E; Skyllouriotis, P; Gross, M; Wimmer, M

    1997-07-01

    We report a 20-year-old man with gigantism syndrome, hypertrophic cardiomyopathy, muscle weakness, exercise intolerance, and severe psychomotor retardation since childhood. Histochemical and biochemical analysis of skeletal muscle biopsy revealed myoadenylate deaminase deficiency; molecular genetic analysis confirmed the diagnosis of primary (inherited) myoadenylate deaminase deficiency. Plasma, urine, and muscle carnitine concentrations were reduced. L-Carnitine treatment led to gradual improvement in exercise tolerance and cognitive performance; plasma and tissue carnitine levels returned to normal, and echocardiographic evidence of left ventricular hypertrophy disappeared. The combination of inherited myoadenylate deaminase deficiency, gigantism syndrome and carnitine deficiency has not previously been described.

  10. On Spectral Triples in Quantum Gravity I

    DEFF Research Database (Denmark)

    Aastrup, Johannes; M. Grimstrup, Jesper; Nest, Ryszard

    2009-01-01

    This paper establishes a link between Noncommutative Geometry and canonical quantum gravity. A semi-finite spectral triple over a space of connections is presented. The triple involves an algebra of holonomy loops and a Dirac type operator which resembles a global functional derivation operator....... The interaction between the Dirac operator and the algebra reproduces the Poisson structure of General Relativity. Moreover, the associated Hilbert space corresponds, up to a discrete symmetry group, to the Hilbert space of diffeomorphism invariant states known from Loop Quantum Gravity. Correspondingly......, the square of the Dirac operator has, in terms of canonical quantum gravity, the form of a global area-squared operator. Furthermore, the spectral action resembles a partition function of Quantum Gravity. The construction is background independent and is based on an inductive system of triangulations...

  11. Triple Achilles Tendon Rupture: Case Report.

    Science.gov (United States)

    Saxena, Amol; Hofer, Deann

    We present a case report with 1-year follow-up data of a 57-year-old male soccer referee who had sustained an acute triple Achilles tendon rupture injury during a game. His triple Achilles tendon rupture consisted of a rupture of the proximal watershed region, a rupture of the main body (mid-watershed area), and an avulsion-type rupture of insertional calcific tendinosis. The patient was treated surgically with primary repair of the tendon, including tenodesis with anchors. Postoperative treatment included non-weightbearing for 4 weeks and protected weightbearing until 10 weeks postoperative, followed by formal physical therapy, which incorporated an "antigravity" treadmill. The patient was able to return to full activity after 26 weeks, including running and refereeing, without limitations. Copyright © 2017 The American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

  12. WDVV equation and triple-product relation

    International Nuclear Information System (INIS)

    Shigechi, Keiichi; Wadati, Miki; Wang Ning

    2005-01-01

    We study the relation between the WDVV equations and the τ-function of the noncommutative KP (NCKP) hierarchy. WDVV-like equations (Hirota triple-product relation) in the noncommutative context appear as a consequence of the nontrivial equation for τ-function of the NC KP hierarchy, while the prepotential in the Seiberg-Witten (SW) theory has been identified to the τ-function of the Whitham hierarchy. We show that the spectral curve for the SW theory is the same as the Toda-chain hierarchy. We also show explicitly that Whitham hierarchy includes commutative Toda/KP hierarchy. Further, we comment on the origin of the Hirota triple-product relation in the context of the SW theory

  13. Triple Giant Resonance Excitations: A Microscopic Approach

    International Nuclear Information System (INIS)

    Lanza, E.G.; Andres, M.V.; Catara, F.; Chomaz, Ph.; Fallot, M.; Scarpaci, J.A.

    2007-01-01

    We present, for the first time, microscopic calculations of inelastic cross sections of the triple excitation of giant resonances induced by heavy ion probes. We start from a microscopic approach based on RPA. The mixing of three-phonon states among themselves and with two- and one-phonon states is considered within a boson expansion with Pauli corrections. In this way we go beyond the standard harmonic approximations and get anharmonic excitation spectra. At the same time we also introduce non-linearities in the external field. The calculations are done by solving semiclassical coupled channel equations, the channels being superpositions of one-, two- and three-phonon states. Previous calculations for the Double Giant Resonance excitation show good agreement with experimental cross sections. The inclusion of the three phonon components confirms the previous results for the DGR and produces a strong increase in the Triple GR energy region

  14. Resolution of a triple axis spectrometer

    DEFF Research Database (Denmark)

    Nielsen, Mourits; Bjerrum Møller, Hans

    1969-01-01

    A new method for obtaining the resolution function for a triple-axis neutron spectrometer is described, involving a combination of direct measurement and analytical calculation. All factors which contribute to the finite resolution of the instrument may be taken into account, and Gaussian...... or experimentally determined probability distributions may be used. The application to the study of the dispersion relation for excitations in a crystal is outlined...

  15. Frequency tripling with multimode-lasers

    International Nuclear Information System (INIS)

    Langer, H.; Roehr, H.; Wrobel, W.G.

    1978-10-01

    The presence of different modes with random phases in a laser beam leads to fluctuations in nonlinear optical interactions. This paper describes the influence of the linewidth of a dye laser on the generation of intensive Lyman-alpha radiation by frequency tripling. Using this Lyman-alpha source for resonance scattering on strongly doppler-broadened lines in fusion plasmas the detection limit of neutral hydrogen is nearly two orders higher with the multimode than the singlemode dye laser. (orig.) [de

  16. Triple collinear emissions in parton showers

    Energy Technology Data Exchange (ETDEWEB)

    Höche, Stefan; Prestel, Stefan

    2017-10-01

    A framework to include triple collinear splitting functions into parton showers is presented, and the implementation of flavor-changing NLO splitting kernels is discussed as a first application. The correspondence between the Monte-Carlo integration and the analytic computation of NLO DGLAP evolution kernels is made explicit for both timelike and spacelike parton evolution. Numerical simulation results are obtained with two independent implementations of the new algorithm, using the two independent event generation frameworks Pythia and Sherpa.

  17. Role of medical history and medication use in the aetiology of upper aerodigestive tract cancers in Europe: the ARCAGE study.

    LENUS (Irish Health Repository)

    Macfarlane, T V

    2012-04-01

    The study aimed to investigate the role of medical history (skin warts, Candida albicans, herpetic lesions, heartburn, regurgitation) and medication use (for heartburn; for regurgitation; aspirin) in the aetiology of upper aerodigestive tract (UADT) cancer.

  18. A Tulczyjew triple for classical fields

    International Nuclear Information System (INIS)

    Grabowska, Katarzyna

    2012-01-01

    The geometrical structure known as the Tulczyjew triple has proved to be very useful in describing mechanical systems, even those with singular Lagrangians or subject to constraints. Starting from basic concepts of the variational calculus, we construct the Tulczyjew triple for first-order field theory. The important feature of our approach is that we do not postulate ad hoc the ingredients of the theory, but obtain them as unavoidable consequences of the variational calculus. This picture of field theory is covariant and complete, containing not only the Lagrangian formalism and Euler–Lagrange equations but also the phase space, the phase dynamics and the Hamiltonian formalism. Since the configuration space turns out to be an affine bundle, we have to use affine geometry, in particular the notion of the affine duality. In our formulation, the two maps α and β which constitute the Tulczyjew triple are morphisms of double structures of affine-vector bundles. We also discuss the Legendre transformation, i.e. the transition between the Lagrangian and the Hamiltonian formulation of the first-order field theory. (paper)

  19. Cardiomyopathy-Associated Gene 1-Sensitive PKC-Dependent Connexin 43 Expression and Phosphorylation in Left Ventricular Noncompaction Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Yuanyuan Xie

    2017-11-01

    Full Text Available Background/Aims: Cardiomyopathy-associated gene 1 (CMYA1 plays an important role in embryonic cardiac development, postnatal cardiac remodeling and myocardial injury repair. Abnormal CMYA1 expression may be involved in cardiac dysplasia and primary cardiomyopathy. Our study aims to establish the relationship between CMYA1 and Left ventricular noncompaction cardiomyopathy (LVNC pathogenesis. Methods: We explored the effects of CMYA1 on connexins (Cx, which contribute to gap junction intercellular communication (GJIC, and the underlying signaling pathway in human normal tissues, LVNC myocardial tissues and HL1 cells by means of western blotting, RT-qPCR, immunohistochemistry, immunofluorescence, co-immunoprecipitation and scrape loading-dye transfer. Results: CMYA1 expression was inversely associated with Cx43 and Cx40 expression, as determined by gap junction PCR array analysis. An increased expression and disordered distribution of CMYA1 at the intercalated discs in LVNC myocardial tissue was also observed. CMYA1 and Cx43 are co-expressed and interact in myocardial cells. CMYA1 expression was positively correlated with p-Cx43 (S368 via the Protein kinase C (PKC signaling pathway in myocardial tissue and HL1 cells. The diffusion distance of Lucifer Yellow in the HL1 cells in which CMYA1 was over-expressed or knocked down was significantly less or more than that of the control group, respectively. Conclusion: Abnormal CMYA1 expression affects the expression and phosphorylation of Cx43 through the PKC signaling pathway, which is involved in the regulation of GJIC. CMYA1 participates in the molecular mechanism of LVNC pathogenesis.

  20. Takotsubo cardiomyopathy associated with thyrotoxicosis: a case report and review of the literature.

    Science.gov (United States)

    Eliades, Myrto; El-Maouche, Diala; Choudhary, Chitra; Zinsmeister, Bruce; Burman, Kenneth D

    2014-02-01

    Takotsubo or stress-induced cardiomyopathy is a form of reversible cardiomyopathy commonly associated with emotional or physical stress. Thyrotoxicosis has been identified as a rare cause of Takotsubo cardiomyopathy, with only 12 cases reported in the literature. Here, we report a case of thyroid storm presenting with Takotsubo cardiomyopathy in the setting of Graves' disease. A 71-year-old woman presented with abdominal pain, vomiting, confusion, and history of weight loss. She was initially diagnosed and treated for diabetic ketoacidosis at another hospital and was transferred to our hospital one day after initial presentation because of concern for acute coronary syndrome. A diagnosis of Takotsubo cardiomyopathy was made on the basis of cardiac catheterization. At that time, she was diagnosed and treated for thyroid storm. Follow-up 7 weeks later revealed improvement of her cardiac function and near-normalization of thyroid hormone levels. In this patient, who presented with symptoms of heart failure, acute coronary syndrome was initially considered, but the diagnosis of Takotsubo cardiomyopathy associated with thyroid storm was ultimately made based on cardiac catheterization and laboratory investigation. Thyrotoxicosis is associated with adverse disturbances in the cardiovascular system. Takotsubo cardiomyopathy could be a presenting manifestation of thyroid storm, perhaps related to excess catecholamine levels or sensitivity.

  1. Is endothelial microvascular function equally impaired among patients with chronic Chagas and ischemic cardiomyopathy?

    Science.gov (United States)

    Borges, Juliana Pereira; Mendes, Fernanda de Souza Nogueira Sardinha; Lopes, Gabriella de Oliveira; Sousa, Andréa Silvestre de; Mediano, Mauro Felippe Felix; Tibiriçá, Eduardo

    2018-08-15

    Chronic Chagas cardiomyopathy (CCC) and cardiomyopathies due to other etiologies involve differences in pathophysiological pathways that are still unclear. Systemic microvascular abnormalities are associated with the pathogenesis of ischemic heart disease. However, systemic microvascular endothelial function in CCC remains to be elucidated. Thus, we compared the microvascular endothelial function of patients presenting with CCC to those with ischemic cardiomyopathy disease. Microvascular reactivity was assessed in 21 patients with cardiomyopathy secondary to Chagas disease, 21 patients with cardiomyopathy secondary to ischemic disease and 21 healthy controls. Microvascular blood flow was assessed in the skin of the forearm using laser speckle contrast imaging coupled with iontophoresis of acetylcholine (ACh). Peak increase in forearm blood flow with ACh iontophoresis in relation to baseline was greater in healthy controls than in patients with heart disease (controls: 162.7 ± 58.4% vs. ischemic heart disease: 74.1 ± 48.3% and Chagas: 85.1 ± 68.1%; p < 0.0001). Patients with Chagas and ischemic cardiomyopathy presented similar ACh-induced changes from baseline in skin blood flow (p = 0.55). Endothelial microvascular function was equally impaired among patients with CCC and ischemic cardiomyopathy. Copyright © 2018 Elsevier B.V. All rights reserved.

  2. Cell therapy in dilated cardiomyopathy: from animal models to clinical trials

    Directory of Open Access Journals (Sweden)

    C. del Corsso

    2011-05-01

    Full Text Available Dilated cardiomyopathy can be the end-stage form and common denominator of several cardiac disorders of known cause, such as hypertensive, ischemic, diabetic and Chagasic diseases. However, some individuals have clinical findings, such as an increase in ventricular chamber size and impaired contractility (classical manifestations of dilated cardiomyopathy even in the absence of a diagnosed primary disease. In these patients, dilated cardiomyopathy is classified as idiopathic since its etiology is obscure. Nevertheless, regardless of all of the advances in medical, pharmacological and surgical procedures, the fate of patients with dilated cardiomyopathy (of idiopathic or of any other known cause is linked to arrhythmic episodes, severe congestive heart failure and an increased risk of sudden cardiac death. In this review, we will summarize present data on the use of cell therapies in animal models of dilated cardiomyopathies and will discuss the few clinical trials that have been published so far involving patients affected by this disease. The animal models discussed here include those in which the cardiomyopathy is produced by genetic manipulation and those in which disease is induced by chemical or infectious agents. The specific model used clearly creates restrictions to translation of the proposed cell therapy to clinical practice, insofar as most of the clinical trials performed to date with cell therapy have used autologous cells. Thus, translation of genetic models of dilated cardiomyopathy may have to wait until the use of allogeneic cells becomes more widespread in clinical trials of cell therapies for cardiac diseases.

  3. Prevalence, and Intellectual Outcome of Unilateral Focal Cortical Brain Damage as a Function of Age, Sex and Aetiology

    Directory of Open Access Journals (Sweden)

    C. M. J. Braun

    2002-01-01

    Full Text Available Neurologists and neuropsychologists are aware that aging men are more at risk than women for brain damage, principally because of the well known male-predominant risk for cardiovascular disease and related cerebrovascular accidents. However, a disproportion in prevalence of brain damage between the sexes in childhood may be less suspected. Furthermore, sex-specific risk for other aetiologies of brain damage may be little known, whether in the pediatric or adult populations. Proposals of a sex difference in cognitive recovery from brain damage have also been controversial. Six hundred and thirty five “consecutive” cases with cortical focal lesions including cases of all ages and both sexes were reviewed. Aetiology of the lesion was determined for each case as was postlesion IQ. Risk was highly male prevalent in all age groups, with a predominance of cardiovascular aetiology explaining much of the adult male prevalence. However, several other aetiological categories were significantly male prevalent in juveniles (mitotic, traumatic, dysplasic and adults (mitotic, traumatic. There was no sex difference in outcome (i.e., postlesion IQ of these cortical brain lesions for the cohort as a whole, after statistical removal of the influence of lesion extent, aetiology and presence of epilepsy. Mechanisms potentially responsible for sex differences in prevalence, aetiology of brain damage, and recovery, are reviewed and discussed.

  4. A STUDY OF AETIOLOGICAL FACTORS IN THE OCCURRENCE OF CUTANEOUS VASCULITIS IN A TERTIARY CARE CENTRE IN NORTH KERALA

    Directory of Open Access Journals (Sweden)

    Praveen Malayath

    2017-03-01

    Full Text Available BACKGROUND Cutaneous vasculitis is a condition caused by various aetiologies. They can be primary or secondary. Cutaneous lesions maybe a pointer to systemic diseases. So, it is important to identify the various aetiological factors in the occurrence of the various types of cutaneous vasculitis. The patterns and the various aetiologies of cutaneous vasculitis in Kerala is not well documented in the existing literature. MATERIALS AND METHODS The present study is a cross-sectional descriptive study of patients with a clinical diagnosis of cutaneous small vessel vasculitis admitted in Medicine and Dermatology Wards of Calicut, Government Medical College during January 2013 to December 2013. A detailed history and clinical examination of patients along with histopathological examination of skin biopsy was done. RESULTS Out of the 70 cases of cutaneous vasculitis studied, idiopathic cutaneous small vessel vasculitis was the most common type followed by Henoch-Schonlein purpura. The most common aetiology identified was drugs followed by infections. No aetiological factor was identified in 42.8% of the cases. CONCLUSION An aetiological association could be found in 57.8% of cases. The causes identified include drugs, infections, malignancy, connective tissue disorder associated, chronic systemic diseases and Behcet’s disease in decreasing order of frequency.

  5. Cobalt Cardiomyopathy Secondary to Hip Arthroplasty: An Increasingly Prevalent Problem

    Directory of Open Access Journals (Sweden)

    Russel Tilney

    2017-01-01

    Full Text Available A forty-year-old man experienced worsening heart failure four years following bilateral complicated total hip replacement. His condition was extensively worked up but no underlying pathology was immediately evident. Given the cobalt-chromium alloy component present in the hip arthroplasties, the raised cobalt blood levels, and a fitting clinical picture coupled with radiological findings, the patient underwent right hip revision. Evidence of biotribocorrosion was present on direct visualisation intraoperatively. The patient subsequently experienced symptomatic improvement (NYHA class III to class I and echocardiography showed recovery of ejection fraction. Cobalt exists as a bivalent and trivalent molecule in circulation and produces a cytotoxicity profile similar to nanoparticles, causing neurological, thyroid, and cardiological pathology. Blood levels are not entirely useful as there is no identifiable conversion factor for levels in whole blood, serum, and erythrocytes which seem to act independently of each other. Interestingly cobalt cardiomyopathy is frequently compounded by other possible causes of cardiomyopathy such as alcohol and a link has been postulated. Definitive treatment is revision of the arthroplasty as other treatments are unproven.

  6. [Diagnosis and therapy of arrhythmogenic right ventricular cardiomyopathy].

    Science.gov (United States)

    Zorzi, Alessandro; Rigato, Ilaria; Migliore, Federico; Perazzolo Marra, Martina; Basso, Cristina; Thiene, Gaetano; Bauce, Barbara; Corrado, Domenico

    2014-11-01

    Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that predisposes to the occurrence of ventricular arrhythmias and sudden death, particularly in the young and athlete. The classic variant of the disease predominantly affects the right ventricle, but phenotypic variants with early and prevalent left ventricular involvement ("left-dominant" ARVC) have also been described, supporting the concept that arrhythmogenic cardiomyopathy is a disease of both ventricles. The diagnosis is multiparametric and is based on a series of criteria, including ECG abnormalities, arrhythmic manifestations, morpho-functional abnormalities and genetic defects. The main goal of therapy is sudden death prevention. Implant of a cardioverter-defibrillator is the most effective strategy for prevention of sudden death, but it should be reserved to selected patients after accurate risk stratification, in view of the high complication rate over a long-term follow-up, the costs and the significant psychological impact of such therapy, especially in the young individual. The other therapies (either pharmacological or not) are palliative and aimed at relieving symptoms and preventing disease progression. The definitive cure of ARVC will be based on the discovery of the molecular mechanisms that are involved in the etiology and pathogenesis of the disease.

  7. Takotsubo cardiomyopathy: an overlooked cause of chest pain

    Directory of Open Access Journals (Sweden)

    Leonardo Hackbart Bermudes

    2014-06-01

    Full Text Available Takotsubo cardiomyopathy (TTC, also known as apical ballooning syndrome, broken heart syndrome, or stress-induced cardiomyopathy, is defined as a transient disturbance of the left ventricle, which is quite often associated with electrocardiographic abnormalities that may mimic acute myocardial infarction. The syndrome is also characterized by a mild alteration of cardiac biomarkers in absence of coronary blood flow obstruction on the coronariography. Clinical presentation is often manifested by angina, dyspnea, syncope, and arrhythmias. Peculiarly, the left ventricle takes the form of “tako-tsubo” (a Japanese word for “octopus trap” on the imaging workup. The authors report the case of a post-menopausal, hypertensive, dyslipidemic and type-II diabetic woman admitted at the emergency service with acute chest pain post physical exertion. Electrocardiogram showed signs of ischemia and myocardial necrosis markers were mildly increased. Echocardiography and ventriculography showed apical and mid-ventricular akinesia, with mild atherosclerotic coronary lesions. Thus diagnostic workup and the outcome followed the diagnostic criteria for TTC. The authors called attention to the potential of overlooking this diagnosis, since this syndrome is still not widely recognized.

  8. A case of mitochondrial cardiomyopathy with restrictive transmitral filling pattern

    Directory of Open Access Journals (Sweden)

    Otsui K

    2012-04-01

    Full Text Available Kazunori Otsui, Nobutaka Inoue, Anna Tamagawa, Kazuo OnishiDepartment of Cardiovascular Medicine, Kobe Rosai Hospital, Kobe, JapanAbstract: A 61-year-old diabetic woman with a mitochondrial A3243G mutation was hospitalized for evaluation of breathlessness, general fatigue, and leg edema. Chest radiography revealed cardiomegaly with massive pleural effusion. Serum lactate, pyruvate, and brain natriuretic peptide concentrations were elevated. Transthoracic echocardiography revealed a restrictive pattern of transmitral flow, although systolic function of the left ventricle was only mildly impaired. Based on these findings and her clinical course, the patient was diagnosed with right-sided heart failure caused by mitochondrial cardiomyopathy associated with a restrictive transmitral filling pattern. Treatment with furosemide, enalapril, and eplerenone was effective, and improvement in her symptoms was associated with amelioration of transthoracic echocardiographic findings and a reduction in serum brain natriuretic peptide levels. Previous reports have indicated heterogeneity in the clinical features of mitochondrial cardiomyopathy in patients carrying the A3243G mutation; the present case highlights the substantial variability in the clinical features of this disease.Keywords: mitochondrial disease, A3243G mutation, diastolic dysfunction, transmitral flow

  9. Arrhythmogenic right ventricular cardiomyopathy: contribution of different electrocardiographic techniques.

    Science.gov (United States)

    Moreira, Davide; Delgado, Anne; Marmelo, Bruno; Correia, Emanuel; Gama, Pedro; Pipa, João; Nunes, Luís; Santos, Oliveira

    2014-04-01

    Arrhythmogenic right ventricular cardiomyopathy, also known as arrhythmogenic right ventricular dysplasia, is a condition in which myocardium is replaced by fibrous or fibrofatty tissue, predominantly in the right ventricle. It is clinically characterized by potentially lethal ventricular arrhythmias, and is a leading cause of sudden cardiac death. Its prevalence is not known exactly but is estimated at approximately 1:5000 in the adult population. Diagnosis can be on the basis of structural and functional alterations of the right ventricle, electrocardiographic abnormalities (including depolarization and repolarization alterations and ventricular arrhythmias) and family history. Diagnostic criteria facilitate the recognition and interpretation of non-specific clinical features of this disease. The authors present a case in which the diagnosis of arrhythmogenic right ventricular cardiomyopathy was prompted by the suspicion of right ventricular disease on transthoracic echocardiography. This was confirmed by detection of epsilon waves on analysis of the ECG, which generally go unnoticed but in this case were the key to the diagnosis. Their presence was also shown by non-conventional ECG techniques such as modified Fontaine ECG. The course of the disease culminated in the occurrence of ventricular tachycardia, which prompted placement of an implantable cardioverter-defibrillator. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  10. Symmetric Dimethylarginine in Cats with Hypertrophic Cardiomyopathy and Diabetes Mellitus

    DEFF Research Database (Denmark)

    Langhorn, R.; Kieler, I. N.; Koch, J.

    2018-01-01

    Background: Symmetric dimethylarginine (SDMA) has been increasingly used as a marker of early chronic kidney disease (CKD) in cats, but little is known about the influence of comorbidities on SDMA in this species. Hypothesis: Hypertrophic cardiomyopathy (HCM) and diabetes mellitus (DM), independe......Background: Symmetric dimethylarginine (SDMA) has been increasingly used as a marker of early chronic kidney disease (CKD) in cats, but little is known about the influence of comorbidities on SDMA in this species. Hypothesis: Hypertrophic cardiomyopathy (HCM) and diabetes mellitus (DM......), independently of CKD, are associated with changes in serum SDMA. Animals: Ninety-four cats (17 with CKD, 40 with HCM, 17 with DM, and 20 healthy controls). Methods: Case-control study. Clinical examination, echocardiography, ECG, blood pressure, CBC, biochemistry, thyroxine, and SDMA measurement were performed....... Urinalysis was performed in controls and cats with CKD and DM. Analysis of variance was used to compare overall differences in the log-transformed SDMA data among groups. A random forest algorithm was applied to explore which clinical and other factors influenced serum SDMA. Results: Median (range) serum...

  11. Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy: Progress and Pitfalls.

    Science.gov (United States)

    Oomen, Ad W G J; Semsarian, Christopher; Puranik, Rajesh; Sy, Raymond W

    2018-04-04

    Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy that predominantly affects the right ventricle. With a prevalence in the range of 1:5000 to 1:2000 persons, ARVC is one of the leading causes of sudden cardiac death in young people and in athletes. Although early detection and treatment is important, the diagnosis of ARVC remains challenging. There is no single pathognomonic diagnostic finding in ARVC; rather, current international task force criteria specify diagnostic major and minor criteria in six categories: right ventricular imaging (including echocardiography and cardiac magnetic resonance imaging (MRI)), histology, repolarisation abnormalities, depolarisation and conduction abnormalities, arrhythmias and family history (including genetic testing). Combining findings from differing diagnostic modalities can establish a "definite", "borderline" or "possible" diagnosis of ARVC. However, there are limitations inherent in the current task force criteria, including the lack of specificity for ARVC; future iterations may be improved, for example, by enhanced imaging protocols able to detect subtle changes in the structure and function of the right ventricle, incorporation of electro-anatomical data, response to adrenergic challenge, and validated criteria for interpreting genetic variants. Copyright © 2018 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.

  12. Multiple Genetic Associations with Irish Wolfhound Dilated Cardiomyopathy.

    Science.gov (United States)

    Simpson, Siobhan; Dunning, Mark D; Brownlie, Serena; Patel, Janika; Godden, Megan; Cobb, Malcolm; Mongan, Nigel P; Rutland, Catrin S

    2016-01-01

    Cardiac disease is a leading cause of morbidity and mortality in dogs and humans, with dilated cardiomyopathy being a large contributor to this. The Irish Wolfhound (IWH) is one of the most commonly affected breeds and one of the few breeds with genetic loci associated with the disease. Mutations in more than 50 genes are associated with human dilated cardiomyopathy (DCM), yet very few are also associated with canine DCM. Furthermore, none of the identified canine loci explain many cases of the disease and previous work has indicated that genotypes at multiple loci may act together to influence disease development. In this study, loci previously associated with DCM in IWH were tested for associations in a new cohort both individually and in combination. We have identified loci significantly associated with the disease individually, but no genotypes individually or in pairs conferred a significantly greater risk of developing DCM than the population risk. However combining three loci together did result in the identification of a genotype which conferred a greater risk of disease than the overall population risk. This study suggests multiple rather than individual genetic factors, cooperating to influence DCM risk in IWH.

  13. Multiple Genetic Associations with Irish Wolfhound Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Siobhan Simpson

    2016-01-01

    Full Text Available Cardiac disease is a leading cause of morbidity and mortality in dogs and humans, with dilated cardiomyopathy being a large contributor to this. The Irish Wolfhound (IWH is one of the most commonly affected breeds and one of the few breeds with genetic loci associated with the disease. Mutations in more than 50 genes are associated with human dilated cardiomyopathy (DCM, yet very few are also associated with canine DCM. Furthermore, none of the identified canine loci explain many cases of the disease and previous work has indicated that genotypes at multiple loci may act together to influence disease development. In this study, loci previously associated with DCM in IWH were tested for associations in a new cohort both individually and in combination. We have identified loci significantly associated with the disease individually, but no genotypes individually or in pairs conferred a significantly greater risk of developing DCM than the population risk. However combining three loci together did result in the identification of a genotype which conferred a greater risk of disease than the overall population risk. This study suggests multiple rather than individual genetic factors, cooperating to influence DCM risk in IWH.

  14. Transient Cardiomyopathy and Quadriplegia Induced by Ephedrine Decongestant.

    Science.gov (United States)

    Snipelisky, David F; Kurklinsky, Andrew K; Chirila, Razvan

    2015-12-01

    Ephedrine decongestant products are widely used. Common side effects include palpitations, nervousness, and headache. More severe adverse reactions include cardiomyopathy and vasospasm. We report the case of an otherwise healthy 37-year-old woman who presented with acute-onset quadriplegia and heart failure. She had a normal chest radiograph on admission, but developed marked pulmonary edema and bilateral effusions the next day. Echocardiography revealed a left ventricular ejection fraction of 0.18 and no obvious intrinsic pathologic condition such as foramen narrowing on spinal imaging. Laboratory screening was positive for methamphetamines in the urine, and the patient admitted to having used, over the past several weeks, multiple ephedrine-containing products for allergy-symptom relief. She was ultimately diagnosed with an acute catecholamine-induced cardiomyopathy and spinal artery vasospasm consequential to excessive use of decongestants. Her symptoms resolved completely with supportive care and appropriate heart-failure management. An echocardiogram 2 weeks after admission showed improvement of the left ventricular ejection fraction to 0.33. Ten months after the event, the patient was entirely asymptomatic and showed further improvement of her ejection fraction to 0.45. To our knowledge, ours is the first report of spinal artery vasospasm resulting in quadriplegia in a human being after ephedrine ingestion.

  15. Radiologic evaluation of adriamycin induced toxic cardiomyopathy in childhood leukemia

    International Nuclear Information System (INIS)

    Kim, Young Joo; Moon, Young Hee; Kang, Kyung Jin; Kim, Ok Hwa; Kim, Choon Yul; Bahk, Yong Whee

    1992-01-01

    The cardiomyopathy associated with Adriamycin is frequently fatal and full clinical recovery is uncommon. To evaluate the radiological manifestation and the outcome of Adriamycin induced cardiac toxicity, we retrospectively reviewed the serial chest X-ray films of children treated with Adriamycin. Among 154 children with leukemia, fourteen patients developed clinical and radiologic evidence of congestive heart failure (CHF). Six out of 14 (43%) died of CHF within 2 weeks after attack and eight children survived after their acute episodes of CHF, were controlled following digoxin and diuretic therapy. Despite the improving clinical evidence of heart failure, the follow-up chest roentgenograms of these 8 children showed definite cardiomegaly as compared with the pre-treatment chest X-ray. Three children among 8 had minimal cardiomegaly and the remaining five children showed persistent, marked cardiomegaly during the period of 9-25 months of follow up. In summary, when CHF develops during chemotherapy in leukemic children, the possibility of Adriamycin induced cardiac toxicity should be suspected. Our findings showed that persistence of cardiomegaly represented significant cardiomyopathy despite clinical improvement of CHF

  16. The value of myocardial perfusion imaging in differentiating between idiopathic dilated cardiomyopathy from the ischemic form

    International Nuclear Information System (INIS)

    Fad, A.; Emami, F.; Eftekhari, M.; Saghari, M.; Fallahi, B.; Beiki, D.; Tkavar, A.

    2004-01-01

    Introduction: differentiating between ischemic cardiomyopathy and idiopathic dilated cardiomyopathy is important as coronary revascularization can improve prognosis in the ischemic subgroup. Due to inherent problems of coronary angiography in patients with depressed ejection fraction introducing a noninvasive tool to diagnose those who will benefit from angiography seems to be rewarding. We examined usefulness of myocardial perfusion scan in this group of patients. Materials and methods: study was performed on 64 patients (62 male and 2 female) aged 57.1 ± 6.7 y (mean ± SD) all with dilation of the left ventricular cavity and ejection fraction less than 40 % by echocardiography. Myocardial perfusion scan was performed in stress and rest phases. All the patients had coronary angiography which was used as the gold standard test. On each set of images, heart was arbitrary divided into 17 segments and perfusion abnormality in each segment was scored by a 5 grade scoring system (0-4). Summed stress Score was used as the scan criteria to differentiate dilated ischemic from idiopathic cardiomyopathy. Scores more than 17 were considered ischemic, and less than that, idiopathic. Results were compared with angiography. Results: from total 40 cases of ischemic cardiomyopathy (proved by angiography) 39 were correctly diagnosed by scan and only one case was mis categorized as idiopathic dilated cardiomyopathy . All 24 cases of idiopathic dilated cardiomyopathy were correctly diagnosed by scintigraphy. Sensitivity, specificity, positive predictive value, and negative predictive value of myocardial perfusion imaging for discrimination between ischemic and idiopathic dilated cardiomyopathy were 97.5 %, 100 %, 100 %, and 96 % respectively. Conclusion: Considering excellent accuracy of myocardial perfusion scan with scoring system in discrimination of ischemic dilated cardiomyopathy from idiopathic cardiomyopathy, this noninvasive test could be considered the main diagnostic test

  17. EMMPRIN and its ligand cyclophilin A as novel diagnostic markers in inflammatory cardiomyopathy.

    Science.gov (United States)

    Seizer, Peter; Geisler, Tobias; Bigalke, Boris; Schneider, Martin; Klingel, Karin; Kandolf, Reinhard; Stellos, Konstantinos; Schreieck, Jürgen; Gawaz, Meinrad; May, Andreas E

    2013-03-10

    During inflammatory cardiomyopathy matrix metalloproteinases are crucially involved in cardiac remodeling. The aim of the present study was to investigate whether the "extracellular matrix metalloproteinase inducer" EMMPRIN (CD147) and its ligand Cyclophilin A (CyPA) are upregulated in inflammatory cardiomyopathy and may serve as diagnostic markers. Therefore, a series of 102 human endomyocardial biopsies were analyzed for the expression of EMMPRIN and CyPA and correlated with histological and immunohistological findings. Endomyocardial biopsies were stained for EMMPRIN and CyPA in addition to standard histology (HE, Trichrom) and immunohistological stainings (MHC-II, CD68, CD3). 39 (38.2%) biopsies met the immunohistological criteria of an inflammatory cardiomyopathy. EMMPRIN, which was predominantly expressed on cardiomyocytes, was slightly (but significantly) upregulated in non inflammatory cardiomyopathies compared to normal histopathological findings and highly upregulated in inflammatory cardiomyopathy compared to both non inflammatory cardiomyopathy and normal histopathology. In contrast, CyPA reveals no enhanced expression in non inflammatory cardiomyopathies and a highly enhanced expression in inflammatory cardiomyopathy, where it is closely associated with leucocytes infiltrates. We found a strong correlation between both EMMPRIN and CyPA with the expression of MHC-II molecules (correlation coefficient 0.475 and 0.527, pEMMPRIN and CyPA with CD68 (correlation coefficient 0.393 and 0.387, pEMMPRIN is enhanced in both inflammatory and non inflammatory cardiomyopathies and can serve as a marker of myocardial remodeling. CyPA may represent a novel and specific marker for cardiac inflammation. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  18. Women's experiences of Takotsubo cardiomyopathy in a short-term perspective--a qualitative content analysis.

    Science.gov (United States)

    Dahlviken, Rønnaug M; Fridlund, Bengt; Mathisen, Lars

    2015-06-01

    Takotsubo cardiomyopathy is a reversible condition mimicking acute myocardial infarction. The phenomenon is associated with emotional and physical stressful trigger events. Evidence-based patient counselling should be based on disease-specific knowledge of patient experiences. The aim of the study was to describe women's experiences of Takotsubo cardiomyopathy in a short-term perspective. The study design was explorative and descriptive. Semi-structured interviews were conducted with 14 women diagnosed with Takotsubo cardiomyopathy, 1 day to 9 months after hospitalisation. The transcriptions underwent qualitative content analysis. The main theme that emerged was Takotsubo cardiomyopathy as a continuous process of making sense and adapting. To begin with, understanding and coping with signs and symptoms were described as having a diversity of signs and symptoms, taking actions towards signs and symptoms, receiving treatment for suspected ST/non ST-elevation myocardial infarction diagnosis and finally being diagnosed with Takotsubo cardiomyopathy. Understanding the context of illness was expressed as getting treated for Takotsubo cardiomyopathy diagnosis and having previous stressful conditions of life. The changing perspective that emanated was a combination of having prospects and expectations and experiencing limitations. Finally, managing to live with Takotsubo cardiomyopathy was manifested as returning home with the illness and receiving follow-up health care. Information on regaining prior health status and capacity within a short-term perspective may not be accurate. These women struggle and require education and counselling from healthcare professionals to comprehend and manage having a Takotsubo cardiomyopathy diagnosis. Women experiencing Takotsubo cardiomyopathy may be a target group for holistic and individual health care with a longer duration of follow-up. © 2014 Nordic College of Caring Science.

  19. Triple valve infective endocarditis - a late diagnosis

    Directory of Open Access Journals (Sweden)

    Edme R. Mustafa

    2018-04-01

    Full Text Available Behcet's disease is a systemic vasculitis of unknown aetiology with cardiac involvement as well as damage to other organs. Whether the sterile valvular inflammation which occurs in this autoimmune disease predisposes to bacterial adhesion and infective endocarditis is not yet established. We present the case of a patient with Behcet disease in which transthoracic echocardiography showed mobile masses on the aortic, tricuspid, and mitral valves, leading to multivalvular infective endocarditis diagnosis, possibly in the context of valvular inflammation. The case presented in this article confirms observation of other studies, namely that ultrasonography plays an important role in the diagnosis and evaluation of rheumatic diseases and permits optimal management in daily practice.

  20. Management of an asymptomatic patient with the apical variant of hypertrophic cardiomyopathy.

    Science.gov (United States)

    Trojan, Meghan K Borden; Biederman, Robert W

    2017-07-01

    Healthcare professionals are faced with challenging decisions regarding patient evaluation and management on a daily basis. Once a diagnosis is made, additional challenges include how to proceed with the management. Here, we present an eighty-two-year-old female who was incidentally diagnosed with the apical variant of hypertrophic cardiomyopathy on a transthoracic echocardiogram. She was found to have newly diagnosed atrial fibrillation, but was otherwise asymptomatic from a cardiomyopathy standpoint. No specific guidelines exist for this patient population. Therefore, how does one proceed with the management of an asymptomatic patient with the apical variant of hypertrophic cardiomyopathy? © 2017, Wiley Periodicals, Inc.

  1. Isolated left ventricular non-compaction cardiomyopathy associated with polymorphous ventricular tachycardia mimicking torsades de pointes

    Directory of Open Access Journals (Sweden)

    Oana Dickinson

    2013-02-01

    Full Text Available Left ventricular non-compaction (LVNC cardiomyopathy is a rare congenital disorder, classified by the American Heart Association as a primary genetic cardiomyopathy and characterized by multiple trabeculations within the left ventricle. LVNC cardiomyopathy has been associated with 3 major clinical manifestations: heart failure, atrial and ventricular arrhythmias and thromboembolic events, including stroke. In this case report, we describe a female patient with apparently isolated LVNC in whom pause-dependent polymorphic ventricular tachycardia suggesting torsades de pointes occurred in the presence of a normal QT interval.

  2. Cyclophosphamide-induced cardiomyopathy in a patient with seminoma and a history of mediastinal irradiation

    International Nuclear Information System (INIS)

    Kamezaki, Kenjirou; Fukuda, Takahiro; Makino, Shigeyoshi; Harada, Mine

    2005-01-01

    A 17-year-old man with mediastinal seminoma was treated with chemotherapy and mediastinal irradiation therapy. Then he received high-dose chemotherapy containing cyclophosphamide (CY) followed by autologous peripheral blood stem cell transplantation. He suffered from CY-induced cardiomyopathy beginning six days after the administration of high-dose CY. The predictable factors associated with the onset of CY-induced cardiomyopathy are not precisely known. It is suggested that the history of mediastinal irradiation was responsible for the onset of cardiomyopathy. (author)

  3. A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies

    DEFF Research Database (Denmark)

    Mogensen, Jens; Hey, Thomas; Lambrecht, Sascha

    2015-01-01

    BACKGROUND: Genetic investigations have established that mutations in proteins of the contractile unit of the myocardium, known as the sarcomere, may be associated with hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), and dilated cardiomyopathy (DCM). It has become clinical...... to be the most frequent disease gene in RCM. CONCLUSIONS: To further explore if there is a genotype-phenotype relation, long-term follow-up studies are needed. It is essential to investigate the natural history of the condition among affected individuals and to provide clinical follow-up on disease development...

  4. Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Jennifer England

    2017-07-01

    Full Text Available Animals have frequently been used as models for human disorders and mutations. Following advances in genetic testing and treatment options, and the decreasing cost of these technologies in the clinic, mutations in both companion and commercial animals are now being investigated. A recent review highlighted the genes associated with both human and non-human dilated cardiomyopathy. Cardiac troponin T and dystrophin were observed to be associated with both human and turkey (troponin T and canine (dystrophin dilated cardiomyopathies. This review gives an overview of the work carried out in cardiac troponin T and dystrophin to date in both human and animal dilated cardiomyopathy.

  5. Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy.

    Science.gov (United States)

    England, Jennifer; Loughna, Siobhan; Rutland, Catrin Sian

    2017-07-07

    Animals have frequently been used as models for human disorders and mutations. Following advances in genetic testing and treatment options, and the decreasing cost of these technologies in the clinic, mutations in both companion and commercial animals are now being investigated. A recent review highlighted the genes associated with both human and non-human dilated cardiomyopathy. Cardiac troponin T and dystrophin were observed to be associated with both human and turkey (troponin T) and canine (dystrophin) dilated cardiomyopathies. This review gives an overview of the work carried out in cardiac troponin T and dystrophin to date in both human and animal dilated cardiomyopathy.

  6. Pattern of left ventricular hypertrophy seen on transthoracic echo in patients with hypertensive cardiomyopathy when compared with idiopathic hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Mirza, S. J.; Radaideh, G. A.

    2013-01-01

    Objective: To explore the pattern of left ventricular hypertrophy caused by hypertension and to compare it with idiopathic hypertrophic cardiomyopathy. Methods: The retrospective study was conducted at the echocardiography lab of Rashid Hospital, Dubai, from January 2009 to January 2010. Cases of 11 patients with significant left ventricular hypertrophy (septum >15mm) due to underlying hypertension were analysed and compared with 11 cases of idiopathic hypertrophic cardiography (septum >15mm) to assess the two groups with similar baseline echocardiographic features. Minitab software was used for statistical analysis. Results: Although the pattern of hypertrophy in hypertensive patients was more concentric (n=5; 45%), there was also asymmetrical septal hypertrophy in 4 (36%) cases, particularly the elderly with sigmoid shape septum. There was evidence of resting mid-cavity gradient due to reduced left ventricular end-systolic diameter in 4 (36%) cases. Conclusion: Although the equation between hypertension and left ventricular hypertrophy is more concentric, but it can be associated with left ventricular outflow tract obstruction and significant mid-cavity gradients similar to that seen in idiopathic hypertrophic cardiomyopathy. (author)

  7. Myofilament Remodeling and Function Is More Impaired in Peripartum Cardiomyopathy Compared with Dilated Cardiomyopathy and Ischemic Heart Disease.

    Science.gov (United States)

    Bollen, Ilse A E; Ehler, Elisabeth; Fleischanderl, Karin; Bouwman, Floor; Kempers, Lanette; Ricke-Hoch, Melanie; Hilfiker-Kleiner, Denise; Dos Remedios, Cristobal G; Krüger, Martina; Vink, Aryan; Asselbergs, Folkert W; van Spaendonck-Zwarts, Karin Y; Pinto, Yigal M; Kuster, Diederik W D; van der Velden, Jolanda

    2017-12-01

    Peripartum cardiomyopathy (PPCM) and dilated cardiomyopathy (DCM) show similarities in clinical presentation. However, although DCM patients do not recover and slowly deteriorate further, PPCM patients show either a fast cardiac deterioration or complete recovery. The aim of this study was to assess if underlying cellular changes can explain the clinical similarities and differences in the two diseases. We, therefore, assessed sarcomeric protein expression, modification, titin isoform shift, and contractile behavior of cardiomyocytes in heart tissue of PPCM and DCM patients and compared these with nonfailing controls. Heart samples from ischemic heart disease (ISHD) patients served as heart failure control samples. Passive force was only increased in PPCM samples compared with controls, whereas PPCM, DCM, and ISHD samples all showed increased myofilament Ca 2+ sensitivity. Length-dependent activation was significantly impaired in PPCM compared with controls, no impairment was observed in ISHD samples, and DCM samples showed an intermediate response. Contractile impairments were caused by impaired protein kinase A (PKA)-mediated phosphorylation because exogenous PKA restored all parameters to control levels. Although DCM samples showed reexpression of EH-myomesin, an isoform usually only expressed in the heart before birth, PPCM and ISHD did not. The lack of EH-myomesin, combined with low PKA-mediated phosphorylation of myofilament proteins and increased compliant titin isoform, may explain the increase in passive force and blunted length-dependent activation of myofilaments in PPCM samples. Copyright © 2017 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

  8. Determination of multidirectional myocardial deformations in cats with hypertrophic cardiomyopathy by using two-dimensional speckle-tracking echocardiography.

    Science.gov (United States)

    Suzuki, Ryohei; Mochizuki, Yohei; Yoshimatsu, Hiroki; Teshima, Takahiro; Matsumoto, Hirotaka; Koyama, Hidekazu

    2017-12-01

    Objectives Hypertrophic cardiomyopathy, a primary disorder of the myocardium, is the most common cardiac disease in cats. However, determination of myocardial deformation with two-dimensional speckle-tracking echocardiography in cats with various stages of hypertrophic cardiomyopathy has not yet been reported. This study was designed to measure quantitatively multidirectional myocardial deformations of cats with hypertrophic cardiomyopathy. Methods Thirty-two client-owned cats with hypertrophic cardiomyopathy and 14 healthy cats serving as controls were enrolled and underwent assessment of myocardial deformation (peak systolic strain and strain rate) in the longitudinal, radial and circumferential directions. Results Longitudinal and radial deformations were reduced in cats with hypertrophic cardiomyopathy, despite normal systolic function determined by conventional echocardiography. Cats with severely symptomatic hypertrophic cardiomyopathy also had lower peak systolic circumferential strain, in addition to longitudinal and radial strain. Conclusions and relevance Longitudinal and radial deformation may be helpful in the diagnosis of hypertrophic cardiomyopathy. Additionally, the lower circumferential deformation in cats with severe hypertrophic cardiomyopathy may contribute to clinical findings of decompensation, and seems to be related to severe cardiac clinical signs. Indices of multidirectional myocardial deformations by two-dimensional speckle-tracking echocardiography may be useful markers and help to distinguish between cats with hypertrophic cardiomyopathy and healthy cats. Additionally, they may provide more detailed assessment of contractile function in cats with hypertrophic cardiomyopathy.

  9. Characteristics, aetiological spectrum and management of valvular heart disease in a Tunisian cardiovascular centre.

    Science.gov (United States)

    Triki, Faten; Jdidi, Jihen; Abid, Dorra; Tabbabi, Nada; Charfeddine, Selma; Ben Kahla, Sahar; Hentati, Mourad; Abid, Leila; Kammoun, Samir

    Valvular heart diseases occur frequently in Tunisia, but no precise statistics are available. To analyse the characteristics of patients with abnormal valvular structure and function, and to identify the aetiological spectrum, treatment and outcomes of valvular heart disease in a single cardiovascular centre in Tunisia. This retrospective study included patients with abnormal valvular structure and function, who were screened by transthoracic echocardiography at a single cardiology department between January 2010 and December 2013. Data on baseline characteristics, potential aetiology, treatment strategies and discharge outcomes were collected from medical records. There were 959 patients with a significant valvular heart disease (mean age 53±17years; female/male ratio 0.57). Valvular heart disease was native in 77% of patients. Mitral stenosis was the most frequent lesion (44.1%), followed by multiple valve disease (22.3%). Rheumatic origin (66.6%) was the most frequent aetiology, followed by degenerative (17.2%) or ischaemic (8.1%) causes, endocarditis (1.4%) and congenital (0.9%) causes. Native valve disease was severe in 589 patients (61.4%). Percutaneous mitral balloon valvuloplasty was performed in 36.9% of patients with mitral stenosis. Among patients with severe valvular heart disease, surgical treatment was indicated for 446 (75.7%) patients. Only 161 (36.1%) patients were finally operated. Postoperative mortality was 13.6% for all valvular heart diseases. This retrospective study has shown that the main cause of valvular heart disease in Tunisia is rheumatic fever. Mitral stenosis and multiple valve disease are the most frequent valvular heart diseases in Tunisia. Percutaneous mitral balloon valvuloplasty and prosthetic valve replacement are the preferred treatment methods for valvular heart disease. Copyright © 2016. Published by Elsevier Masson SAS.

  10. A STUDY OF THE VARIED AETIOLOGY AND CLINICAL PRESENTATION OF NEW ONSET SEIZURES IN POSTPARTUM PERIOD

    Directory of Open Access Journals (Sweden)

    Ravindra Kumar Sudarsi

    2016-08-01

    Full Text Available BACKGROUND Seizures in the postpartum period are the major cause of mortality and morbidity. A variety of neurological disorders causing seizures may be encountered during pregnancy and puerperium. These disorders may be unrelated to pregnancy (e.g. Meningitis or peculiar to pregnancy (e.g. Eclampsia or. Pregnancy may affect the course of the pre-existing neurological disorders such as epilepsy. So, keeping in mind the varied aetiology of postpartum seizures and its response to appropriate treatment, our study has been conducted to find out the most common causes in our setup to guide the optimal therapy. AIM OF THE STUDY To study the varied aetiology and clinical presentation of new onset seizures in the postpartum period over a period of two years. MATERIALS AND METHODS 50 patients who developed first episode of seizures in postpartum period (that is after delivery to 6 weeks admitted to Osmania General Hospital on random selection. All women complaining of new onset seizure with in postpartum period up to 6 weeks. All those women who are known epileptics and who had seizures in the antenatal period were excluded from the study. The selected patients were studied in detail with history and physical examination. RESULTS Different causes for first episode of seizures in postpartum period are enlisted here. Cavernous sinus thrombosis in 17 patients, late postpartum eclampsia accounted for 13 patients, intracranial haemorrhage in 6 patients, ischaemic stroke in 5 patients, posterior reversible encephalopathy syndrome in 4 patients, CNS infections in 6 patients, glioma in 1 patient, viral hepatitis in one patient, idiopathic in 3 patients. CONCLUSIONS Cavernous sinus thrombosis and late postpartum eclampsia constitute the major aetiology of first onset of seizes occurring in the postpartum period.

  11. On Pythagoras Theorem for Products of Spectral Triples

    OpenAIRE

    D'Andrea, Francesco; Martinetti, Pierre

    2013-01-01

    We discuss a version of Pythagoras theorem in noncommutative geometry. Usual Pythagoras theorem can be formulated in terms of Connes' distance, between pure states, in the product of commutative spectral triples. We investigate the generalization to both non pure states and arbitrary spectral triples. We show that Pythagoras theorem is replaced by some Pythagoras inequalities, that we prove for the product of arbitrary (i.e. non-necessarily commutative) spectral triples, assuming only some un...

  12. Targeting Histone Abnormality in Triple Negative Breast Cancer

    Science.gov (United States)

    2015-08-01

    κB pathway in triple negative breast cancer . 8th International Nitric Oxide Conference & 6th International Nitrite/ Nitrate Conference, Cleveland, OH...1 AWARD NUMBER: W81XWH-14-1-0237 TITLE: Targeting Histone Abnormality in Triple-Negative Breast Cancer PRINCIPAL INVESTIGATOR: Yi...TITLE AND SUBTITLE 5a. CONTRACT NUMBER Targeting Histone Abnormality in Triple-Negative Breast Cancer 5b. GRANT NUMBER W81XWH-14-1-0237 5c

  13. Gifles de la Tourett's Disease a Single case study A Discussion on Aetiology and Treatment

    Directory of Open Access Journals (Sweden)

    C. Izadi

    1978-06-01

    Full Text Available A case of Gille de la Tourett's syndrome is reported and discussed 111 the light of conflicting views on the aetiology of the condition. It is hypothesized that if Tourette's syndrome is to be considered as a sort of reaction against adaption to an unhealthy environment, this reaction and its continuity can be attributed to permanent eNS damage (Probably in the area of corpora striata beginning in childhood. Treatment with haloperidol is suggested as a most effective method of symptomatic treatment.

  14. Aetiology of Vertigo as Seen at the Federal Medical Center Lokoja, North Central Nigeria

    Directory of Open Access Journals (Sweden)

    Stephen Agbomhekhe Ogah

    2017-05-01

    Results: Three thousand two hundred and fourteen patients were seen and 65 of them had vertigo with a prevalence of 2.0%. Fifteen files had incomplete information and were not include in the study. The remaining 50 patients' files that were reviewed, consisted of 32 males (64% and 18 females (36%. Male to female ratio was 1.8:1 and a mean age of 24.8 years. Bengin Paroxysmal Positional Vertigo (BPPV 22(44% was the commonest aetiology found followed by Meniere's disease 8(16%, trauma 7(14% and Vestibular Neuronitis 5(10% respectively.

  15. Oral submucous fibrosis: an overview of the aetiology, pathogenesis, classification, and principles of management.

    Science.gov (United States)

    Arakeri, Gururaj; Brennan, Peter A

    2013-10-01

    Oral submucous fibrosis (OSMF) is a complex, debilitating, and precancerous condition. Formerly confined to the Indian subcontinent, it is now often seen in the Asian populations of the United Kingdom, USA, and other developed countries, and is therefore a serious problem for global health. The well-known causative agent of the disease, areca-nut is now recognised as a group one carcinogen. We review and discuss all components of OSMF, including the terminology, presentation, aetiology, and pathogenesis, and provide a brief overview of its management. Copyright © 2012 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  16. Natural triple beta-stranded fibrous folds.

    Science.gov (United States)

    Mitraki, Anna; Papanikolopoulou, Katerina; Van Raaij, Mark J

    2006-01-01

    A distinctive family of beta-structured folds has recently been described for fibrous proteins from viruses. Virus fibers are usually involved in specific host-cell recognition. They are asymmetric homotrimeric proteins consisting of an N-terminal virus-binding tail, a central shaft or stalk domain, and a C-terminal globular receptor-binding domain. Often they are entirely or nearly entirely composed of beta-structure. Apart from their biological relevance and possible gene therapy applications, their shape, stability, and rigidity suggest they may be useful as blueprints for biomechanical design. Folding and unfolding studies suggest their globular C-terminal domain may fold first, followed by a "zipping-up" of the shaft domains. The C-terminal domains appear to be important for registration because peptides corresponding to shaft domains alone aggregate into nonnative fibers and/or amyloid structures. C-terminal domains can be exchanged between different fibers and the resulting chimeric proteins are useful as a way to solve structures of unknown parts of the shaft domains. The following natural triple beta-stranded fibrous folds have been discovered by X-ray crystallography: the triple beta-spiral, triple beta-helix, and T4 short tail fiber fold. All have a central longitudinal hydrophobic core and extensive intermonomer polar and nonpolar interactions. Now that a reasonable body of structural and folding knowledge has been assembled about these fibrous proteins, the next challenge and opportunity is to start using this information in medical and industrial applications such as gene therapy and nanotechnology.

  17. The Triple Axis and SPINS Spectrometers.

    Science.gov (United States)

    Trevino, S F

    1993-01-01

    In this paper are described the triple axis and spin polarized inelastic neutron scattering (SPINS) spectrometers which are installed at the NIST Cold Neutron Research Facility (CNRF). The general principle of operation of these two instruments is described in sufficient detail to allow the reader to make an informed decision as to their usefulness for his needs. However, it is the intention of the staff at the CNRF to provide the expert resources for their efficient use in any given situation. Thus, this work is not intended as a user manual but rather as a guide into the range of applicability of the two instruments.

  18. Binaries and triples among asteroid pairs

    Science.gov (United States)

    Pravec, Petr; Scheirich, Peter; Kušnirák, Peter; Hornoch, Kamil; Galád, Adrián

    2015-08-01

    Despite major achievements obtained during the past two decades, our knowledge of the population and properties of small binary and multiple asteroid systems is still far from advanced. There is a numerous indirect evidence for that most small asteroid systems were formed by rotational fission of cohesionless parent asteroids that were spun up to the critical frequency presumably by YORP, but details of the process are lacking. Furthermore, as we proceed with observations of more and more binary and paired asteroids, we reveal new facts that substantially refine and sometimes change our understanding of the asteroid systems. One significant new finding we have recently obtained is that primaries of many asteroid pairs are actually binary or triple systems. The first such case found is (3749) Balam (Vokrouhlický, ApJL 706, L37, 2009). We have found 9 more binary systems among asteroid pairs within our ongoing NEOSource photometric project since October 2012. They are (6369) 1983 UC, (8306) Shoko, (9783) Tensho-kan, (10123) Fideoja, (21436) Chaoyichi, (43008) 1999 UD31, (44620) 1999 RS43, (46829) 1998 OS14 and (80218) 1999 VO123. We will review their characteristics. These paired binaries as we call them are mostly similar to binaries in the general ("background") population (of unpaired asteroids), but there are a few trends. The paired binaries tend to have larger secondaries with D_2/D_1 = 0.3 to 0.5 and they also tend to be wider systems with 8 of the 10 having orbital periods between 30 and 81 hours, than average among binaries in the general population. There may be also a larger fraction of triples; (3749) Balam is a confirmed triple, having a larger close and a smaller distant satellite, and (8306) Shoko and (10123) Fideoja are suspect triples as they show additional rotational lightcurve components with periods of 61 and 38.8 h that differ from the orbital period of 36.2 and 56.5 h, respectively. The unbound secondaries tend to be of the same size or

  19. Designing Broadband Access Networks with Triple Redundancy

    DEFF Research Database (Denmark)

    Pedersen, Jens Myrup; Riaz, Muhammad Tahir; Knudsen, Thomas Phillip

    2005-01-01

    An architecture is proposed for designing broadband access networks, which offer triple redundancy to the end users, resulting in networks providing connectivity even in case of any two independent node or line failures. Two physically independent connections are offered by fiber, and the last...... provided by some wireless solution. Based on experience with planning Fiber To The Home, the architecture is designed to meet a number of demands, making it practicable and useful in realworld network planning. The proposed wired topology is planar, and suitable for being fitted onto the road network...

  20. Experimental observation of triple correlations in fluids

    Directory of Open Access Journals (Sweden)

    M.Ya. Sushko

    2013-03-01

    Full Text Available We present arguments for the hypothesis that under some conditions, triple correlations of density fluctuations in fluids can be detected experimentally by the method of molecular spectroscopy. These correlations manifest themselves in the form of so-called 1.5-(or sesquialteral scattering. The latter is of most significance in the pre-asymptotic vicinity of the critical point and can be registered along certain thermodynamic paths. Its presence in the overall scattering pattern is demonstrated by our processing available experimental data for the depolarization factor. Some consequences of these results are discussed.

  1. [Application of next-generation semiconductor sequencing technologies in genetic diagnosis of inherited cardiomyopathies].

    Science.gov (United States)

    Zhao, Yue; Zhang, Hong; Xia, Xue-shan

    2015-07-01

    Inherited cardiomyopathy is the most common hereditary cardiac disease. It also causes a significant proportion of sudden cardiac deaths in young adults and athletes. So far, approximately one hundred genes have been reported to be involved in cardiomyopathies through different mechanisms. Therefore, the identification of the genetic basis and disease mechanisms of cardiomyopathies are important for establishing a clinical diagnosis and genetic testing. Next-generation semiconductor sequencing (NGSS) technology platform is a high-throughput sequencer capable of analyzing clinically derived genomes with high productivity, sensitivity and specificity. It was launched in 2010 by Life Technologies of USA, and it is based on a high density semiconductor chip, which was covered with tens of thousands of wells. NGSS has been successfully used in candidate gene mutation screening to identify hereditary disease. In this review, we summarize these genetic variations, challenge and application of NGSS in inherited cardiomyopathy, and its value in disease diagnosis, prevention and treatment.

  2. Restrictive Cardiomyopathy Associated With Long-Term Use of Hydroxychloroquine for Systemic Lupus Erythematosus.

    Science.gov (United States)

    Sabato, Leah A; Mendes, Lisa A; Cox, Zachary L

    2017-10-01

    Hydroxychloroquine (HQ) is commonly prescribed for autoimmune diseases such as systemic lupus erythematosus. We report a case of a 75-year-old female presenting with de novo decompensated heart failure and restrictive cardiomyopathy (left ventricular ejection fraction: 40%-45%) after treatment with HQ for more than 11 years. Hydroxychloroquine was discontinued, and follow-up echocardiogram 57 days after discontinuation showed normalization of her left ventricular ejection fraction. A score of 7 on the Naranjo Adverse Drug Reaction Probability Scale indicates that HQ is a probable cause of this patient's cardiomyopathy. An adverse drug effect due to HQ should be considered in treated patients who present with restrictive cardiomyopathy. Discontinuation may allow for partial or complete reversal of the cardiomyopathy.

  3. Safety profile and utility of treadmill exercise in patients with high-gradient hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Sorensen, Lars Lindholm; Liang, Hsin-Yueh; Pinheiro, Aurelio

    2017-01-01

    BACKGROUND: Exercise echocardiography in the evaluation of hypertrophic cardiomyopathy (HCM) provides valuable information for risk stratification, selection of optimal treatment, and prognostication. However, HCM patients with left ventricular outflow tract gradients ≥30mm Hg are often excluded ...

  4. Angiotensin II type 2 receptors and cardiac hypertrophy in women with hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    J. Deinum (Jacob); J.M. van Gool (Jeanette); M.J.M. Kofflard (Marcel); A.H.J. Danser (Jan); F.J. ten Cate (Folkert)

    2001-01-01

    textabstractThe development of left ventricular hypertrophy in subjects with hypertrophic cardiomyopathy (HCM) is variable, suggesting a role for modifying factors such as angiotensin II. Angiotensin II mediates both trophic and antitrophic effects, via angiotensin II type 1

  5. An update on canine cardiomyopathies - is it all in the genes?

    Science.gov (United States)

    Dutton, E; López-Alvarez, J

    2018-04-17

    Dilated cardiomyopathy is the second most common cardiac disease in dogs and causes considerable morbidity and mortality. Primary dilated cardiomyopathy is suspected to be familial, and genetic loci have been associated with the disease in a number of breeds. Because it is an adult-onset disease, usually with late onset, testing breeding dogs and bitches before breeding for a genetic mutation that could lead to dilated cardiomyopathy would be helpful to prevent disease. There is growing evidence that the genetic basis may be multigenic rather than monogenic in the majority of studied breeds. This review article describes the known genetic aspects of canine dilated cardiomyopathy and the implications of genetic tests on heart testing and the future of veterinary cardiology. © 2018 British Small Animal Veterinary Association.

  6. A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies

    Directory of Open Access Journals (Sweden)

    Marta Gigli

    2016-07-01

    Full Text Available Titin (TTN is known as the largest sarcomeric protein that resides within the heart muscle. Due to alternative splicing of TTN the heart expresses two major isoforms (N2B and N2BA that incorporate four distinct regions termed the Z-line, I-band, A-band, and M-line. Next-generation sequencing allows a large number of genes to be sequenced simultaneously and provides the opportunity to easily analyze giant genes such as TTN. Mutations in the TTN gene can cause cardiomyopathies, in particular dilated cardiomyopathy (DCM. DCM is the most common form of cardiomyopathy and it is characterized by systolic dysfunction and dilation of the left ventricle. TTN truncating variants have been described as the most common cause of DCM while the real impact of TTN missense variants in the pathogenesis of DCM is still unclear. In a recent population screening study, rare missense variants potentially pathogenic based on bioinformatic filtering represented only 12.6% of the several hundred rare TTN missense variants found, suggesting that missense variants are very common in TTN and frequently benign. The aim of this review is to understand the clinical role of TTN mutations in DCM and in other cardiomyopathies. Whereas TTN truncations are common in DCM, there is evidence that TTN truncations are rare in the HCM phenotype. Furthermore TTN mutations can also cause arrhythmogenic right ventricular cardiomyopathy (ARVC with distinct clinical features and outcomes. Finally, the identification of a rare missense variant in TTN cosegregating with the restrictive cardiomyopathy (RCM phenotype suggests that TTN is a novel gene in this disease. Clinical diagnostic testing is currently able to analyze over 100 cardiomyopathy genes, including TTN, however, the size and presence of extensive genetic variation in TTN presents clinical challenges in determining significant disease-causing mutations. This review discusses the current knowledge of TTN genetic variations in

  7. Acute pulmonary edema caused by takotsubo cardiomyopathy in a pregnant woman undergoing transvaginal cervical cerclage

    OpenAIRE

    Lee, Jae-Young; Kwon, Hyun-Jung; Park, Sang-Wook; Lee, Yu-Mi

    2017-01-01

    Abstract Background: The physiological changes associated with pregnancy may predispose pregnant women to pulmonary edema. Other known causes of pulmonary edema during pregnancy include tocolytic drugs, preeclampsia, eclampsia, and peripartum cardiomyopathy. Methods: We describe a rare case of pulmonary edema caused by takotsubo cardiomyopathy in a pregnant woman at 14 weeks of gestation who was undergoing emergency transvaginal cervical cerclage. Results: Intraoperative chest radiography rev...

  8. Cardiac chambers and their walls in cardiomyopathies as evaluated with CT

    International Nuclear Information System (INIS)

    Wojtowicz, J.; Pawlak, B.; Lehman, Z.; Karwowski, A.; Akademia Medyczna, Poznan

    1984-01-01

    Thirty-two patients with cardiomyopathy, 25 with hypertrophic and 7 with dilated form were examined by cardiac catheterisation, left ventriculography, selective coronary angiography and ungated cardiac computed tomography. Diffuse hypertrophy, localized hypertrophy and dilated cardiomyopathy were diagnosed and assessed quantitatively based on CT linear, surface and volumetric parameters of cardiac morphology. Absolute septal thickness and left ventricular mass measured in CT image are the most discriminative attributes. (orig.)

  9. Activity of trypsin-like enzymes and gelatinases in rats with doxorubicin cardiomyopathy

    OpenAIRE

    Iu. А. Gordiienko; Ya. V. Babets; А. О. Kulinich; А. І. Shevtsova; G. О. Ushakova

    2014-01-01

    Activity of trypsin-like enzymes (ATLE) and gelatinases A and B were studied in the blood plasma and extracts from cardiac muscle, cerebral cortex and cerebellum of rats with cardiomyopathy caused by anthracycline antibiotic doxorubicin against the background of preventive application of corvitin and α-ketoglutarate. ATLE significantly increased in blood plasma and extracts from cerebral cortex but decreased in extracts from cardiac muscle and cerebellum in doxorubicin cardiomyopathy (DCMP). ...

  10. Comparison Between Clinical and Echocardiographic Findings in Infants and Children Diagnosed with Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Cristina Blesneac

    2015-06-01

    Full Text Available Background: Hypertrophic cardiomyopathy is a rather common hereditary disease with an autozomal dominant character, caused by mutations of genes that code for proteins of the cardiac sarcomere. The observed prevalence of this disease is much lower in pediatric patients compared to adults, because it’s late gene expression. Hypertrophic cardiomyopathy presenting in infancy has been shown to have a very high mortality.

  11. Value of noninvasive diagnostic procedures in cardiology: typical findings in hypertrophic obstructive cardiomyopathy

    International Nuclear Information System (INIS)

    Riebeling, V.; Bubenheimer, P.

    1984-01-01

    Routine chest X-ray often yields poor information for diagnosis of heart disease. The diagnostic value of invasive procedures in cardiology is generally accepted. The patient's as well as the physician's risk of the examination, however, has to be considered. A high number of heart diseases, e.g. hypertrophic obstructive cardiomyopathy (HOCM) is mainly detected by noninvasive procedures such as auscultation, electrocardiography, phonomechanocardiography, echocardiography, physical manoeuvres, and pharmacological provocation tests. Typical findings in hypertrophic obstructive cardiomyopathy are demonstrated. (orig.) [de

  12. Ischemic Stroke in a Young Patient Heralding a Left Ventricular Noncompaction Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Fanny Lestienne

    2017-08-01

    Full Text Available Strokes in young patients may be the clinical expression of many complex and extremely rare diseases. Uncommon causes constitute less than 5% of all strokes, but are present in 30% of strokes in young patients. We report the case of a young woman whose ischemic stroke led to the diagnosis of a rare embolic cardiomyopathy, left ventricular noncompaction cardiomyopathy, requiring a heart transplant.

  13. Mesenchymal Stem Cells Reduce Left Ventricular Mass in Rats with Doxorubicin-Induced Cardiomyopathy

    OpenAIRE

    Haydardedeoglu, Ali Evren; Boztok Özgermen, Deva Basak; Yavuz, Orhan

    2018-01-01

    SUMMARY: Doxorubicin is a drug that used by a majority in the treatment of carcinomas. The most obvious known side effect is cardiomyopathy. Many studies have been carried out to eliminate side effects of the doxorubicin, and stem cell studies have been added in recent years. In this study, it was aimed to investigate fetal-derived mesenchymal stem cells (F-MSCs) treatment of doxorubicininduced cardiomyopathy by morphological methods. A total of 24 rats which were divided into three separate ...

  14. High?Sensitivity Troponin: A Clinical Blood Biomarker for Staging Cardiomyopathy in Fabry Disease

    OpenAIRE

    2016-01-01

    Background High?sensitivity troponin (hs?TNT), a biomarker of myocardial damage, might be useful for assessing fibrosis in Fabry cardiomyopathy. We performed a prospective analysis of hs?TNT as a biomarker for myocardial changes in Fabry patients and a retrospective longitudinal follow?up study to assess longitudinal hs?TNT changes relative to fibrosis and cardiomyopathy progression. Methods and Results For the prospective analysis, hs?TNT from 75 consecutive patients with genetically confirm...

  15. Congestive cardiomyopathy and endobronchial granulomas as manifestations of Churg-Strauss syndrome.

    Science.gov (United States)

    Alvarez-Sala, R.; Prados, C.; Armada, E.; Del Arco, A.; Villamor, J.

    1995-01-01

    Churg-Strauss syndrome is a systemic vasculitis. Its most frequent complications are heart diseases and asthma. Usually, cardiological manifestations are pericarditis, cardiac failure and myocardial infarction. Endobronchial granulomas identified by bronchoscopy are unusual. We present the case of a man with congestive cardiomyopathy and endobronchial granulomas macroscopically visible at bronchoscopy. After a review of medical literature, we found one case of congestive cardiomyopathy and no cases of endobronchial granulomas observed by bronchoscopy associated with Churg-Strauss syndrome. Images Figure PMID:7644400

  16. Myocardial uptake of Tc-99m MDP in chronic renal failure with cardiomyopathy

    International Nuclear Information System (INIS)

    Kim, Seung Eun; Sohn, Hyung Sun; Chung, Yong An; Park, Young Ha; Kim, Sung Hoon; Chung, Soo Kyo

    2000-01-01

    A uremic patient on hemodialysis, who had concurrent cardiomyopathy showed intense myocardial uptake of 99m Tc-methylene diphosphonate (MDP). The presumed cause of uptake in the myocardium is metastatic calcification due to hypercalcemia secondary to the renal failure. However, supplementary mechanism caused by cardiomyopathy should be considered. We describe a case with bone tracer uptake in the myocardium in the absence of infarction in a patient with chronic renal failure.=20

  17. Hepatorenal Syndrome with Cirrhotic Cardiomyopathy: Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Luis Mocarzel

    2015-01-01

    Full Text Available The hepatorenal syndrome (HRS is defined as a potentially reversible kidney failure in patients with cirrhosis and ascites. An association of HRS and cirrhotic cardiomyopathy has been reported recently, but there are no result studies about the use of positive inotropes as part of the acute phase treatment. We report the case of a patient diagnosed with HRS, with high levels of NT pro-BNP, but with normal ejection fraction of the left ventricle, which showed abnormalities in systolic function through speckle tracking in echocardiography, reversible after the infusion of dobutamine. The patient showed clinical and laboratory improvement of his renal function after the infusion of dobutamine. Clinical studies are needed on HRS therapeutic approach taking into account the myocardial dysfunction as a major contributing factor to renal dysfunction.

  18. Hypertrophic cardiomyopathy secondary to hepatitis C virus-related vasculitis.

    Science.gov (United States)

    Cavalli, Giulio; Berti, Alvise; Fragasso, Gabriele; De Cobelli, Francesco

    2016-12-01

    : Almost invariably associated with chronic HCV infection, cryoglobulinemic vasculitis is a small-vessel vasculitis commonly affecting the skin, kidneys, and peripheral nervous system. Cardiac involvement, possibly due to cardiac microcirculation involvement, is an utterly rare and severe complication. We describe a case of hypertrophic cardiomyopathy secondary to cryoglobulinemic vasculitis. Evaluation with transthoracic cardiac ultrasound and cardiac MRI evidenced severe left ventricular hypertrophy and diffuse hypokinesia, a marked decrease in left ventricular ejection fraction, and a subtle late enhancement of inferior and lateral left ventricular walls. Upon clinical stabilization, the patient received treatment with anti-CD20 monoclonal antibody rituximab. Clinical and radiological follow-up with cardiac ultrasound and cardiac MRI documented a dramatic and sustained clinical improvement, with marked reduction of left ventricular hypertrophy, resolution of late enhancement, recovery of left ventricular contractility and function.

  19. Various manifestations of hypertrophic cardiomyopathy on ultrafast computed tomography

    International Nuclear Information System (INIS)

    Sekiya, Tohru; Karikomi, Masahito; Ohshiro, Masaya; Iwakami, Masayoshi; Takamoto, Toshihiko; Sakamoto, Tsuguya

    1992-01-01

    Ultrafast computed tomography was performed in 30 patients with hypertrophic cardiomyopathy and images were assessed on variability of left ventricular hypertrophy, the pattern of left ventricular contraction, right ventricular hypertrophy, dilatation of the left atrium, and thickening of the mitral valve. Fifteen (50.0%) of 30 patients had asymmetric septal hypertrophy, six (20.0%) had diffuse hypertrophy, and nine (30.0%) had apical hypertrophy. In eleven patients with asymmetric septal hypertrophy and two with apical hypertrophy, non-hypertrophied segments in end-diastole showed vigorous contraction. Sixteen patients showed homogeneous left ventricular contraction and one showed partial apical contraction. Right ventricular hypertrophy was noted in 12 patients (40.0%), dilatation of the left atrium in 13 patients (43.3%), and mitral valve thickening in three (10.0%). Ultrafast computed tomography was useful in the evaluation of apical hypertrophy and right ventricular hypertrophy, which could be difficult to obtain by echocardiography. (author)

  20. Serious arrhythmias in patients with apical hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Okishige, Kaoru; Sasano, Tetsuo; Yano, Kei; Azegami, Kouji; Suzuki, Kou; Itoh, Kuniyasu [Yokohama Red Cross Hospital (Japan)

    2001-05-01

    We report cases of serious arrhythmias associated with apical hypertrophic cardiomyopathy (AHCM). Thirty-one patients were referred to our institute to undergo further assessment of their AHCM from 1988 to 1999. Three patients with nonsustained ventricular tachycardia demonstrated an {sup 123}I-MIBG regional reduction in the tracer uptake. In two patients with ventricular fibrillation (VF), the findings from {sup 123}I-MIBG imaging revealed regional sympathetic denervation in the inferior and lateral regions. Electrophysiologic study demonstrated reproducible induction of VF in aborted sudden death and presyncopal patients, resulting in the need for an implantable defibrillator device and amiodarone in each patient. Patients with refractory atrial fibrillation with a rapid ventricular response suffered from serious congestive heart failure. A prudent assessment and strategy in patients with this disease would be indispensable in avoiding a disastrous outcome. (author)

  1. Adipose-derived regenerative cells in patients with ischemic cardiomyopathy

    DEFF Research Database (Denmark)

    Perin, Emerson C; Sanz-Ruiz, Ricardo; Sánchez, Pedro L

    2014-01-01

    a reduction in inducible ischemia in ADRC-treated patients up to 18 months. CONCLUSION: Isolation and transendocardial injection of autologous ADRCs in no-option patients were safe and feasible. Our results suggest that ADRCs may preserve ventricular function, myocardial perfusion, and exercise capacity...... of the transendocardial injections of ADRCs in no-option patients with ischemic cardiomyopathy. METHODS AND RESULTS: Procedural, postoperative, and follow-up safety end points were monitored up to 36 months. After baseline measurements, efficacy was assessed by echocardiography and single-photon emission computed...... injections were feasible in all patients. No malignant arrhythmias were seen. Adverse events were similar between groups. Metabolic equivalents and MVO2 values were preserved over time in ADRC-treated patients but declined significantly in the control group. The difference in the change in MVO2 from baseline...

  2. Hypertrophic cardiomyopathy: a heart in need of an energy bar?

    Directory of Open Access Journals (Sweden)

    Styliani eVakrou

    2014-08-01

    Full Text Available Hypertrophic cardiomyopathy (HCM has been recently recognized as the most common inherited cardiovascular disorder, affecting 1 in 500 adults worldwide. HCM is characterized by myocyte hypertrophy resulting in thickening of the ventricular wall, myocyte disarray, interstitial and/or replacement fibrosis, decreased ventricular cavity volume and diastolic dysfunction. HCM is also the most common cause of sudden death in the young. A large proportion of patients diagnosed with HCM have mutations in sarcomeric proteins. However, it is unclear how these mutations lead to the cardiac phenotype, which is variable even in patients carrying the same causal mutation. Abnormalities in calcium cycling, oxidative stress, mitochondrial dysfunction and energetic deficiency have been described, constituting the basis of therapies in experimental models of HCM and HCM patients. This review focuses on evidence supporting the role of cellular metabolism and mitochondria in HCM.

  3. Lethal Cardiomyopathy in Mice Lacking Transferrin Receptor in the Heart

    Directory of Open Access Journals (Sweden)

    Wenjing Xu

    2015-10-01

    Full Text Available Both iron overload and iron deficiency have been associated with cardiomyopathy and heart failure, but cardiac iron utilization is incompletely understood. We hypothesized that the transferrin receptor (Tfr1 might play a role in cardiac iron uptake and used gene targeting to examine the role of Tfr1 in vivo. Surprisingly, we found that decreased iron, due to inactivation of Tfr1, was associated with severe cardiac consequences. Mice lacking Tfr1 in the heart died in the second week of life and had cardiomegaly, poor cardiac function, failure of mitochondrial respiration, and ineffective mitophagy. The phenotype could only be rescued by aggressive iron therapy, but it was ameliorated by administration of nicotinamide riboside, an NAD precursor. Our findings underscore the importance of both Tfr1 and iron in the heart, and may inform therapy for patients with heart failure.

  4. A rare case of peripartum cardiomyopathy posted for caesarean section

    Directory of Open Access Journals (Sweden)

    Nalini Kotekar

    2007-01-01

    Full Text Available Post Partum Cardiomyopathy (PPCM is a relatively rare form of heart failure associated with pregnancy. It was recognized first in the 19th century by Ritchie and is defined as the onset of acute heart failure in the last trimester or early post partum period in the absence of infections, metabolic, toxic, ischaemic or valvular causes of myocardial dysfunction. Prognosis depends on the degree of cardiomegaly at presentation and in the following 6 months. Initial high risk period carries a mortality of 25 to 50%. Keeping in mind the reduced contractility and ejection fraction with ventricular dilatation proceeding to cardiac failure, the anesthesiologist managing a case of PPCM faces the challenge of avoiding myocardial depression, hypovolemia and increased SVR, all of which may be hazardous

  5. Pathomorphological Changes of the Myocardium in Canine Dilated Cardiomyopathy (DCM

    Directory of Open Access Journals (Sweden)

    Janus Izabela

    2015-04-01

    Full Text Available The study was conducted on ventricular and atrial wall preparations from 11 dogs with clinically diagnosed dilated cardiomyopathy. After fixation, the specimens were stained with haematoxylin and eosin and Masson-Goldner trichrome technique. Parenchymal changes (fibrosis and fatty infiltration, vascular changes (congestion and coronary vessel wall hypertrophy, degenerative changes (loss of striation, changes in cardiomycyte and nuclei structure, and presence of inflammatory infiltrates (mononuclear and polynuclear were estimated. Complex histological changes in both ventricular and atrial muscles were shown. It was not determined whether the processes occurring in the myocardium have a primary character, or are a consequence of developing heart failure. Such issues will be put under further and more detailed examination.

  6. Data of methylome and transcriptome derived from human dilated cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Bong-Seok Jo

    2016-12-01

    Full Text Available Alterations in DNA methylation and gene expression have been implicated in the development of human dilated cardiomyopathy (DCM. Differentially methylated probes (DMPs and differentially expressed genes (DEGs were identified between the left ventricle (LV, a pathological locus for DCM and the right ventricle (RV, a proxy for normal hearts. The data in this DiB are for supporting our report entitled “Methylome analysis reveals alterations in DNA methylation in the regulatory regions of left ventricle development genes in human dilated cardiomyopathy” (Bong-Seok Jo, In-Uk Koh, Jae-Bum Bae, Ho-Yeong Yu, Eun-Seok Jeon, Hae-Young Lee, Jae-Joong Kim, Murim Choi, Sun Shim Choi, 2016 [1].

  7. Role of ventricular tachycardia ablation in arrhythmogenic right ventricular cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Alberto Cipriani

    2017-11-01

    Full Text Available Arrhythmogenic right ventricular cardiomyopathy (ARVC is characterized by progressive fibro-fatty replacement of the myocardium that represents the substrate for recurrent sustained ventricular tachycardia (VT. These arrhythmias characterize the clinical course of a sizeable proportion of patients and have significant implications for their quality of life and long-term prognosis. Antiarrhythmic drugs are often poorly tolerated and usually provide incomplete control of arrhythmia relapses. Catheter ablation is a potentially effective strategy to treat frequent VT episodes and ICD shocks in ARVC patients. The aims of this review are to discuss the electrophysiological and electroanatomic substrates of ventricular tachycardia in patients with ARVC and to analyze the role of catheter ablation in their management with particular reference to selection of patients, technical issues, potential complications and outcomes.

  8. Cardiac symptoms before sudden cardiac death caused by hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Lynge, Thomas Hadberg; Risgaard, Bjarke; Jabbari, Reza

    2016-01-01

    AIMS: Hypertrophic cardiomyopathy (HCM) is a frequent cause of sudden cardiac death (SCD) among the young (SCDY). The aim of this study was to characterize symptoms before SCDY due to HCM. METHODS AND RESULTS: Through review of all death certificates, we identified all SCDs in Danes aged 1-35 years...... in 2000-2009. Nationwide we included all deaths (n = 8756) and identified 431 autopsied SCDYs. All available records from hospitals and general practitioners were retrieved. To compare symptoms, we included a control groups consisting of traffic accident victims (n = 74). In the 10-year study period, 431...... autopsied SCDY cases were reviewed and 38 cases (9%) were included, of which 22 (58%) had morphologic findings diagnostic of HCM and 16 (42%) had findings suggestive, but not diagnostic, of HCM ('possible HCM'). Cardiac symptoms >1 h prior to death were reported in 21 (55%) of cases, and 16 (42%) sought...

  9. Ultrastructural myocardial changes in seven cats with spontaneous hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Christiansen, Liselotte Bruun; Prats Gavalda, Clara; Hyttel, Poul

    2015-01-01

    OBJECTIVES: Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats and shares clinical and pathological characteristics with human HCM. Little is known about the pathogenic mechanisms underlying development of spontaneous feline HCM. ANIMALS: The study population consisted...... of seven cats diagnosed with HCM and eight age-matched cats with no evidence of cardiac disease. METHODS: Fresh myocardial biopsies taken from the middle of the left ventricular posterior free wall were obtained and examined with transmission electron microscopy. RESULTS: Electron microscopic examination...... showed ultrastructural aberrations of the myocardial cytoarchitecture and of the interstitium in the seven cats with HCM. In the most severely affected cats the myofibrils were disorganized and subsarcolemmal mitochondria were depleted. In control cats, contraction band artifacts were commonly seen...

  10. Evidence for a possible calcium flux dependent cardiomyopathy in hyperthyroidism

    International Nuclear Information System (INIS)

    Barat, J.L.; Wicker, P.; Manley, W.

    1985-01-01

    This study was designed to test the hypothesis that the impaired functional cardiac reserve to exercise in hyperthyroidism is related to alterations in the regulation of calcium transport. In 2l hyperthyroid patients, the left ventricular ejection fraction (LVEF) was measured using equilibrium gated radionuclide angiocardiography at rest and during supine dynamic exercise. After a recovery period, the patients performed a second exercise study after random administration of Verapamil, a calcium entry blocker (11 pts), or propanolol, a beta adrenergic antagonist (10 pts) for comparison. The results showed i) normal resting LVEF with no significant change during exercise before any medication, ii) resting LVEF significantly decreased after Propanolol, and no significantly changed after Verapamil, iii) during exercise, significant increase of LVEF after Verapamil, and no significant change after Propanolol. These results are consistent with previous studies showing that abnormal change in LVEF during exercise in hyperthyroidism seems independent of beta adrenergic activation, and suggest a reversible functional cardiomyopathy dependent of calcium transporting systems

  11. Evidence for a possible calcium flux dependent cardiomyopathy in hyperthyroidism

    Energy Technology Data Exchange (ETDEWEB)

    Barat, J.L.; Wicker, P.; Manley, W.; Brendel, A.J.; Lefort, G.; San Galli, F.; Commenges-Ducos, M.; Latapie, J.L.; Riviere, J.; Ducassou, D.

    1985-05-01

    This study was designed to test the hypothesis that the impaired functional cardiac reserve to exercise in hyperthyroidism is related to alterations in the regulation of calcium transport. In 2l hyperthyroid patients, the left ventricular ejection fraction (LVEF) was measured using equilibrium gated radionuclide angiocardiography at rest and during supine dynamic exercise. After a recovery period, the patients performed a second exercise study after random administration of Verapamil, a calcium entry blocker (11 pts), or propanolol, a beta adrenergic antagonist (10 pts) for comparison. The results showed i) normal resting LVEF with no significant change during exercise before any medication, ii) resting LVEF significantly decreased after Propanolol, and no significantly changed after Verapamil, iii) during exercise, significant increase of LVEF after Verapamil, and no significant change after Propanolol. These results are consistent with previous studies showing that abnormal change in LVEF during exercise in hyperthyroidism seems independent of beta adrenergic activation, and suggest a reversible functional cardiomyopathy dependent of calcium transporting systems.

  12. Dispersion cancellation in a triple Laue interferometer

    International Nuclear Information System (INIS)

    Lemmel, Hartmut

    2014-01-01

    The concept of dispersion cancellation has been established in light optics to improve the resolution of interferometric measurements on dispersive media. Odd order dispersion cancellation allows to measure phase shifts without defocusing the interferometer due to wave packet displacements, while even order dispersion cancellation allows to measure time lags without losing resolution due to wave packet spreading. We report that either type of dispersion cancellation can be realized very easily in a triple Laue interferometer. Such interferometers are Mach–Zehnder interferometers based on Bragg diffraction, and are commonly used for neutrons and x-rays. Although the first x-ray interferometer was built nearly five decades ago, the feature of dispersion cancellation hasn't been recognized so far because the concept was hardly known in the neutron and x-ray community. However, it explains right away the surprising decoupling of phase shift and spatial displacement that we have discovered recently in neutron interferometry (Lemmel and Wagh 2010 Phys. Rev. A 82 033626). Furthermore, this article might inspire the light optics community to consider whether a triple Laue interferometer for laser light would be useful and feasible. We explain how dispersion cancellation works in neutron interferometry, and we describe the setup rigorously by solving the Schrödinger equation and by calculating the path integral. We point out, that the latter has to be evaluated with special care since in our setup the beam trajectory moves with respect to the crystal lattice of the interferometer. (paper)

  13. Robust Modeling of Stellar Triples in PHOEBE

    Science.gov (United States)

    Conroy, Kyle E.; Prsa, Andrej; Horvat, Martin; Stassun, Keivan G.

    2017-01-01

    The number of known mutually-eclipsing stellar triple and multiple systems has increased greatly during the Kepler era. These systems provide significant opportunities to both determine fundamental stellar parameters of benchmark systems to unprecedented precision as well as to study the dynamical interaction and formation mechanisms of stellar and planetary systems. Modeling these systems to their full potential, however, has not been feasible until recently. Most existing available codes are restricted to the two-body binary case and those that do provide N-body support for more components make sacrifices in precision by assuming no stellar surface distortion. We have completely redesigned and rewritten the PHOEBE binary modeling code to incorporate support for triple and higher-order systems while also robustly modeling data with Kepler precision. Here we present our approach, demonstrate several test cases based on real data, and discuss the current status of PHOEBE's support for modeling these types of systems. PHOEBE is funded in part by NSF grant #1517474.

  14. VERITAS: Versatile Triple-Axis Spectrometer

    Energy Technology Data Exchange (ETDEWEB)

    Park, Sung Il

    2006-04-15

    Korea Atomic Energy Research Institute is planning to build a cold neutron triple-axis spectrometer at HANARO, the 30 MW research reactor. The spectrometer is expected to be completed in 2008 with the following configuration from the upstream to the downstream. Guide Supermirror m = 2, In-pile Straight Section, {approx} 5 m Curved Guide, {approx} 26 m w/ R 1500 m Straight Guide before the Instrument, {approx} 40 m Filters PG and Be Neutron Velocity Selector (Future) Monochromators Vertically Focusing Monochromators PG(002) and Heusler(111) Doubly Focusing Monochromators (Future) Monochromator-Sample Distance 2 m Collimation C1 Soller Collimators, 20', 40' 80'Beam Height at the Sample Table 1.5 m Sample-Analyzer Distance 1.0 m Collimation C2 Soller Collimators, 20', 40', 80' Radial Collimator Analyzers Horizontally Focusing Analyzers w/ Fixed Vertical Focusing PG(002) and Heusler(111) Analyzer-Detector Distance 0.5 m Detectors 5 cm Tube Detector 25 cm wide Position Sensitive Detector Once completed, the neutron flux at sample is expected to surpass that of SPINS at NCNR, making this instrument one of the most powerful 2nd generation cold neutron triple-axis spectrometers in the world.

  15. VERITAS: Versatile Triple-Axis Spectrometer

    International Nuclear Information System (INIS)

    Park, Sung Il

    2006-04-01

    Korea Atomic Energy Research Institute is planning to build a cold neutron triple-axis spectrometer at HANARO, the 30 MW research reactor. The spectrometer is expected to be completed in 2008 with the following configuration from the upstream to the downstream. Guide Supermirror m = 2, In-pile Straight Section, ∼ 5 m Curved Guide, ∼ 26 m w/ R 1500 m Straight Guide before the Instrument, ∼ 40 m Filters PG and Be Neutron Velocity Selector (Future) Monochromators Vertically Focusing Monochromators PG(002) and Heusler(111) Doubly Focusing Monochromators (Future) Monochromator-Sample Distance 2 m Collimation C1 Soller Collimators, 20', 40' 80'Beam Height at the Sample Table 1.5 m Sample-Analyzer Distance 1.0 m Collimation C2 Soller Collimators, 20', 40', 80' Radial Collimator Analyzers Horizontally Focusing Analyzers w/ Fixed Vertical Focusing PG(002) and Heusler(111) Analyzer-Detector Distance 0.5 m Detectors 5 cm Tube Detector 25 cm wide Position Sensitive Detector Once completed, the neutron flux at sample is expected to surpass that of SPINS at NCNR, making this instrument one of the most powerful 2nd generation cold neutron triple-axis spectrometers in the world

  16. The Portuguese Registry of Hypertrophic Cardiomyopathy: Overall results.

    Science.gov (United States)

    Cardim, Nuno; Brito, Dulce; Rocha Lopes, Luís; Freitas, António; Araújo, Carla; Belo, Adriana; Gonçalves, Lino; Mimoso, Jorge; Olivotto, Iacopo; Elliott, Perry; Madeira, Hugo

    2018-01-01

    We report the results of the Portuguese Registry of Hypertrophic Cardiomyopathy, an initiative that reflects the current spectrum of cardiology centers throughout the territory of Portugal. A direct invitation to participate was sent to cardiology departments. Baseline and outcome data were collected. A total of 29 centers participated and 1042 patients were recruited. Four centers recruited 49% of the patients, of whom 59% were male, and mean age at diagnosis was 53±16 years. Hypertrophic cardiomyopathy (HCM) was identified as familial in 33%. The major reason for diagnosis was symptoms (53%). HCM was obstructive in 35% of cases and genetic testing was performed in 51%. Invasive septal reduction therapy was offered to 8% (23% of obstructive patients). Most patients (84%) had an estimated five-year risk of sudden death of <6%. Thirteen percent received an implantable cardioverter-defibrillator. After a median follow-up of 3.3 years (interquartile range [P25-P75] 1.3-6.5 years), 31% were asymptomatic. All-cause mortality was 1.19%/year and cardiovascular mortality 0.65%/year. The incidence of heart failure-related death was 0.25%/year, of sudden cardiac death 0.22%/year and of stroke-related death 0.04%/year. Heart failure-related death plus heart transplantation occurred in 0.27%/year and sudden cardiac death plus equivalents occurred in 0.53%/year. Contemporary HCM in Portugal is characterized by relatively advanced age at diagnosis, and a high proportion of invasive treatment of obstructive forms. Long-term mortality is low; heart failure is the most common cause of death followed by sudden cardiac death. However, the burden of morbidity remains considerable, emphasizing the need for disease-specific treatments that impact the natural history of the disease. Copyright © 2017 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

  17. Quality of Life in Survivors of Peripartum Cardiomyopathy.

    Science.gov (United States)

    Koutrolou-Sotiropoulou, Paraskevi; Lima, Fabio Vasconcelos; Stergiopoulos, Kathleen

    2016-07-15

    Little data exist with regard to the effect of peripartum cardiomyopathy (PPCM) on quality of life. The aim of this study was to determine the impact of PPCM on quality of life and emotional well-being. We sought to determine the feasibility of using social media to perform quality of life research. We conducted a study using a survey distributed to established members of "Peripartum Cardiomyopathy Survivors" support group on the social networking site Facebook. A total of 116 women completed the survey (age 36 ± 6.4 years; 91% white, 75% married, 46% college educated), with 4.9 ± 0.5 years (range 0.02 to 24 years) since the initial diagnosis. Most women (41%) never returned to their baseline level of activity, and 28% discontinued their job because of the diagnosis. Most respondents (56%) were not limited or only slightly limited by heart failure symptoms over the past 2 months. Most respondents (56%) never returned to their baseline emotionally after the diagnosis of PPCM, and most patients (73%) were dissatisfied with their current level of heart failure symptoms. Most patients (67%) felt discouraged frequently (more than several times per month) because of heart failure. Only 26% of women were satisfied with the counseling they received from their providers. The emotional and physical burden of PPCM on young mothers with PPCM years after the diagnosis is striking. Identifying strategies that promote better emotional health and potential treatment strategies may be required. Copyright © 2016. Published by Elsevier Inc.

  18. Magnetic resonance imaging of dilated cardiomyopathy; MRT bei dilatativen Kardiomyopathien

    Energy Technology Data Exchange (ETDEWEB)

    D' Anastasi, M. [Klinikum der Ludwig-Maximilians-Universitaet Muenchen, Campus Grosshadern, Institut fuer Klinische Radiologie, Muenchen (Germany); Greif, M. [Klinikum der Ludwig-Maximilians-Universitaet Muenchen, Campus Grosshadern, Medizinische Klinik und Poliklinik I, Muenchen (Germany); Reiser, M.F.; Theisen, D. [Klinikum der Ludwig-Maximilians-Universitaet Muenchen, Campus Grosshadern, Institut fuer Klinische Radiologie, Muenchen (Germany); Deutsches Zentrum fuer Herzkreislaufforschung (DZHK), Muenchen (Germany)

    2013-01-15

    Dilated cardiomyopathy (DCM) is the most common type of cardiomyopathy with a prevalence of 1 out of 2,500 in adults. Due to mild clinical symptoms in the early phase of the disease, the true prevalence is probably even much higher. Patients present with variable clinical symptoms ranging from mild systolic impairment of left ventricular function to congestive heart failure. Even sudden cardiac death may be the first clinical symptom of DCM. The severity of the disease is defined by the degree of impairment of global left ventricular function. Arrhythmias, such as ventricular or supraventricular tachycardia, atrioventricular (AV) block, ventricular extrasystole and atrial fibrillation are common cardiac manifestations of DCM. Magnetic resonance imaging (MRI) plays an important role in the exact quantification of functional impairment of both ventricles and in the evaluation of regional wall motion abnormalities. With its excellent ability for the assessment of myocardial structure, it is becoming increasingly more important for risk stratification and therapy guidance. (orig.) [German] Die dilatative Kardiomyopathie (DCM) ist die haeufigste Form der Kardiomyopathie mit einer Praevalenz von 1/2500 Erwachsenen. Aufgrund der zunaechst milden klinischen Symptomatik ist jedoch von einer relativ hohen Dunkelziffer auszugehen. Die klinische Praesentation ist variabel, die Schwere der Erkrankung wird vom Ausmass der systolischen Funktionseinschraenkung bestimmt. Herzrhythmusstoerungen, wie ventrikulaere oder supraventrikulaere Tachykardien, AV-Blockierungen, ventrikulaere Extrasystolen und Vorhofflimmern sind moegliche klinische Manifestationen. Bei manchen Patienten ist der ploetzliche Herztod die erste klinische Manifestation der Erkrankung. Die kardiale MRT spielt eine bedeutende Rolle fuer die Beurteilung des Ausmasses der ventrikulaeren Dilatation, Dysfunktion und fuer die Beurteilung regionaler Wandbewegungsstoerungen. Darueber hinaus kann sie zur Anwendung kommen

  19. Genetics and other factors in the aetiology of female pattern hair loss.

    Science.gov (United States)

    Redler, Silke; Messenger, Andrew G; Betz, Regina C

    2017-06-01

    Pattern hair loss is the most common form of hair loss in both women and men. Male pattern hair loss, also termed male androgenetic alopecia (M-AGA), is an androgen-dependent trait that is predominantly genetically determined. Androgen-mediated mechanisms are probably involved in female pattern hair loss (FPHL) in some women but the evidence is less strong than in M-AGA; other non-androgenic pathways, including environmental influences, may contribute to the aetiology. Genome-wide association studies have identified several genetic loci for M-AGA and have provided better insight into the underlying biology. However, the role of heritable factors in Female Pattern Hair Loss (FPHL) is largely unknown. Recently published studies have been restricted to candidate gene approaches and could not clearly identify any susceptibility locus/gene for FPHL but suggest that the aetiology differs substantially from that of M-AGA. Hypotheses about possible pathomechanisms of FPHL as well as the results of the genetic studies performed to date are summarized. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  20. Incidence, aetiology and prevention of musculoskeletal injuries in volleyball: A systematic review of the literature.

    Science.gov (United States)

    Kilic, O; Maas, M; Verhagen, E; Zwerver, J; Gouttebarge, V

    2017-07-01

    Currently, there is no overview of the incidence and (volleyball-specific) risk factors of musculoskeletal injuries among volleyball players, nor any insight into the effect of preventive measures on the incidence of injuries in volleyball. This study aimed to review systematically the scientific evidence on the incidence, prevalence, aetiology and preventive measures of volleyball injuries. To this end, a highly sensitive search strategy was built based on two groups of keywords (and their synonyms). Two electronic databases were searched, namely Medline (biomedical literature) via Pubmed, and SPORTDiscus (sports and sports medicine literature) via EBSCOhost. The results showed that ankle, knee and shoulder injuries are the most common injuries sustained while playing volleyball. Results are presented separately for acute and overuse injuries, as well as for contact and non-contact injuries. Measures to prevent musculoskeletal injuries, anterior knee injuries and ankle injuries were identified in the scientific literature. These preventive measures were found to have a significant effect on decreasing the occurrence of volleyball injuries (for instance on ankle injuries with a reduction from 0.9 to 0.5 injuries per 1000 player hours). Our systematic review showed that musculoskeletal injuries are common among volleyball players, while effective preventive measures remain scarce. Further epidemiological studies should focus on other specific injuries besides knee and ankle injuries, and should also report their prevalence and not only the incidence. Additionally, high-quality studies on the aetiology and prevention of shoulder injuries are lacking and should be a focus of future studies.

  1. Multiple constitutional aetiological factors in bone marrow failure syndrome (BMFS) patients from north India.

    Science.gov (United States)

    Varma, Neelam; Varma, Subhash; Marwaha, Ram Kumar; Malhotra, Pankaj; Bansal, Deepak; Malik, Kiran; Kaur, Sukhdeep; Garewal, Gurjeevan

    2006-07-01

    A large number of patients diagnosed with bone marrow failure syndromes (BMFS), comprising aplastic anaemia (AA) and myelodysplastic syndromes (MDS), remain aetiologically uncharacterized worldover, especially in resource constrained set up. We carried out this study to identify a few constitutional causes in BMFS patients attending a tertiary care hospital in north India. Peripheral blood lymphocyte cultures were performed (with and without clastogens) in a cohort of 135 consecutive BMFS patients, in order to detect Fanconi anaemia (FA), Down's syndrome (+21), trisomy 8 (+8) and monosomy 7 (-7). Constitutional factors were detected in 17 (12.6%) patients. FA defect was observed in 24.07 percent (13/54), 16.66 percent (1/6) and 2.85 percent (1/35) paediatric aplastic anaemia, paediatric MDS and adult MDS patients respectively. Down's syndrome was detected in 5.00 percent (2/40) adult aplastic anaemia patients. None of the patients revealed trisomy 8 or monosomy 7. Presence of an underlying factor determines appropriate management, prognostication, family screening and genetic counselling of BMFS patients. Special tests required to confirm or exclude constitutional aetiological factors are not available to majority of the patients in our country. Diepoxybutane (DEB) test yielded better results than mitomycin C (MMC) test in our experience.

  2. A Latter-day Saint Approach to Addiction: Aetiology, Consequences and Treatment in a Theological Context

    Directory of Open Access Journals (Sweden)

    James D. Holt

    2014-12-01

    Full Text Available This article explores the theological underpinning of the nature, aetiology and treatment of addictions within The Church of Jesus Christ of Latter-day Saints. The first section outlines the “plan of salvation” and how this provides the theological framework for the source and solution to addictions. The final section explores addiction against this background in terms of its aetiology, types, consequences and treatment in a Latter-day Saint context. In so doing it builds on the recognition by the Church in recent years that addiction is a problem in the lives of some of its members and that treatment programs coherent with its teachings and beliefs are necessary. The article concludes by suggesting that while addiction may be more openly discussed within a Latter-day Saint context there is a need to keep this dialogue moving forward. This article does not examine Latter-day Saint teaching within the wider context of psychotherapy and other definitions of addiction; rather it explores the place of addiction as understood within the theological and ecclesiological context of Mormonism.

  3. Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease.

    Directory of Open Access Journals (Sweden)

    Lesley Jones

    2010-11-01

    Full Text Available Late Onset Alzheimer's disease (LOAD is the leading cause of dementia. Recent large genome-wide association studies (GWAS identified the first strongly supported LOAD susceptibility genes since the discovery of the involvement of APOE in the early 1990s. We have now exploited these GWAS datasets to uncover key LOAD pathophysiological processes.We applied a recently developed tool for mining GWAS data for biologically meaningful information to a LOAD GWAS dataset. The principal findings were then tested in an independent GWAS dataset.We found a significant overrepresentation of association signals in pathways related to cholesterol metabolism and the immune response in both of the two largest genome-wide association studies for LOAD.Processes related to cholesterol metabolism and the innate immune response have previously been implicated by pathological and epidemiological studies of Alzheimer's disease, but it has been unclear whether those findings reflected primary aetiological events or consequences of the disease process. Our independent evidence from two large studies now demonstrates that these processes are aetiologically relevant, and suggests that they may be suitable targets for novel and existing therapeutic approaches.

  4. Viral aetiology influenza like illnesses in Santa Cruz, Bolivia (2010-2012).

    Science.gov (United States)

    Delangue, Julie; Roca Sanchez, Yelin; Piorkowski, Géraldine; Bessaud, Maël; Baronti, Cécile; Thirion-Perrier, Laurence; Mafayle, Roxana Loayza; Ardaya, Cinthia Avila; Aguilera, Gabriela Añez; Guzman, Jimmy Revollo; Riera, Javier Lora; de Lamballerie, Xavier

    2014-02-24

    Acute respiratory infections represent a serious public health issue worldwide but virological aetiologies of Influenza Like Illnesses (ILIs) remain largely unknown in developing countries. This study represents the first attempt to characterise viral aetiologies of ILIs in Bolivia. It was performed in Santa Cruz city from January 2010 to September 2012, based on 564 naso-pharyngeal swabs collected in a National Reference Laboratory and real-time PCR techniques, viral cultures and phylogenetic analyses. 50.2% of samples were positive for at least one virus with influenza viruses (Flu A: ~15%; Flu B: ~9%), rhinoviruses (~8%), coronaviruses (~5%) and hRSV (~4%) being the most frequently identified. The pattern of viral infections varied according to age groups. The elucidation rate was the highest (>60%) amongst patients under 10 yo and the lowest (Bolivia in the study period, originating from Central and North America, Europe, Asia and Australia. Our results emphasise the requirement for a reinforced epidemiological and genetic follow-up of influenza and other ILIs in Bolivia to further inform the preparation of vaccines used in the region, guide vaccination campaigns and improve the medical management of patients.

  5. Viral aetiology influenza like illnesses in Santa Cruz, Bolivia (2010–2012)

    Science.gov (United States)

    2014-01-01

    Background Acute respiratory infections represent a serious public health issue worldwide but virological aetiologies of Influenza Like Illnesses (ILIs) remain largely unknown in developing countries. This study represents the first attempt to characterise viral aetiologies of ILIs in Bolivia. Methods It was performed in Santa Cruz city from January 2010 to September 2012, based on 564 naso-pharyngeal swabs collected in a National Reference Laboratory and real-time PCR techniques, viral cultures and phylogenetic analyses. Results 50.2% of samples were positive for at least one virus with influenza viruses (Flu A: ~15%; Flu B: ~9%), rhinoviruses (~8%), coronaviruses (~5%) and hRSV (~4%) being the most frequently identified. The pattern of viral infections varied according to age groups. The elucidation rate was the highest (>60%) amongst patients under 10 yo and the lowest (Bolivia in the study period, originating from Central and North America, Europe, Asia and Australia. Conclusion Our results emphasise the requirement for a reinforced epidemiological and genetic follow-up of influenza and other ILIs in Bolivia to further inform the preparation of vaccines used in the region, guide vaccination campaigns and improve the medical management of patients. PMID:24564892

  6. Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency.

    Science.gov (United States)

    Pfäffle, R; Klammt, J

    2011-02-01

    The somatotropic axis is the central postnatal regulator of longitudinal growth. One of its major components--growth hormone--is produced by the anterior lobe of the pituitary, which also expresses and secretes five additional hormones (prolactin, thyroid stimulating hormone, follicle stimulating hormone, luteinizing hormone, adrenocorticotropic hormone). Proper development of the pituitary assures the regulation of critical processes such as metabolic control, puberty and reproduction, stress response and lactation. Ontogeny of the adenohypophysis is orchestrated by inputs from neighbouring tissues, cellular signalling molecules and transcription factors. Perturbation of expression or function of these factors has been implicated in the aetiology of combined pituitary hormone deficiency (CPHD). Mutations within the genes encoding for the transcription factors LHX3, LHX4, PROP1, and POU1F1 (PIT1) that act at different stages of pituitary development result in unique patterns of hormonal deficiencies reflecting their differential expression during organogenesis. In the case of LHX3 and LHX4 the phenotype may include extra-pituitary manifestations due to the function of these genes/proteins outside the pituitary gland. The remarkable variability in the clinical presentation of affected patients indicates the influence of the genetic background, environmental factors and possibly stochastic events. However, in the majority of CPHD cases the aetiology of this heterogeneous disease remains unexplained, which further suggests the involvement of additional genes. Identification of these factors might also help to close the gaps in our understanding of pituitary development, maintenance and function. Copyright © 2010 Elsevier Ltd. All rights reserved.

  7. Overview of Evidence in Prevention and Aetiology of Food Allergy: A Review of Systematic Reviews

    Science.gov (United States)

    Lodge, Caroline J.; Allen, Katrina J.; Lowe, Adrian J.; Dharmage, Shyamali C.

    2013-01-01

    The worldwide prevalence of food allergy appears to be increasing. Early life environmental factors are implicated in the aetiology of this global epidemic. The largest burden of disease is in early childhood, where research efforts aimed at prevention have been focused. Evidence synthesis from good quality systematic reviews is needed. We performed an overview of systematic reviews concerning the prevention and aetiology of food allergy, retrieving 14 systematic reviews, which covered three broad topics: formula (hydrolysed or soy) for the prevention of food allergy or food sensitization; maternal and infant diet and dietary supplements for the prevention of food allergy or food sensitization and hygiene hypothesis-related interventions. Using the AMSTAR criteria for assessment of methodological quality, we found five reviews to be of high quality, seven of medium quality and two of low quality. Overall we found no compelling evidence that any of the interventions that had been systematically reviewed were related to the risk of food allergy. Updating of existing reviews, and production of new systematic reviews, are needed in areas where evidence is emerging for interventions and environmental associations. Furthermore, additional primary studies, with greater numbers of participants and objective food allergy definitions are urgently required. PMID:24192789

  8. Chicken astrovirus as an aetiological agent of runting-stunting syndrome in broiler chickens.

    Science.gov (United States)

    Kang, Kyung-Il; Linnemann, Erich; Icard, Alan H; Durairaj, Vijay; Mundt, Egbert; Sellers, Holly S

    2018-04-01

    Despite descriptions of runting-stunting syndrome (RSS) in broiler chickens dating back over 40 years, the aetiology has not yet been described. A novel chicken astrovirus (CkAstV) was isolated in an LMH liver cell line from the intestines of chickens affected with RSS. Clinical RSS is characterized by retarded growth and cystic crypt lesions in the small intestine. In 1-day-old broiler chickens infected with the CkAstV isolate, virus was only detected in the intestinal epithelial cells during the first few days after infection. Notably, the preferred host cells are the crypt epithelial cells following initial replication in the villous epithelial cells, thus implying viral preference for immature intestinal cells. Nevertheless, the CkAstV isolate did not induce remarkable pathological changes, despite the presence of the virus in situ. Serial chicken-to-chicken passages of the virus induced increased virulence, as displayed by decreased weight gain and the presence of cystic lesions in the small intestine reproducing clinical RSS in chickens. The analysis of the full-length genome sequences from the isolated CkAstV and the CkAstV from the bird-to-bird passages showed >99 % similarity. The data obtained in this study suggest that the CkAstV isolate is capable of inducing RSS following serial bird-to-bird passages in broilers and is as an aetiological agent of the disease.

  9. The aetiology of oral submucous fibrosis: the stimulation of collagen synthesis by extracts of areca nut.

    Science.gov (United States)

    Canniff, J P; Harvey, W

    1981-01-01

    Oral submucous fibrosis is a chronic disabling disease developing in up to 0.5% of the estimated 500 million habitual chewers of the "betel" quid. The quid, or chew, usually comprises a leaf of the Piper betel vine in which is wrapped fragments of the nut of Areca catechu, together with slaked lime and varied additives, including tobacco. The precise aetiology of oral submucous fibrosis (OSF) remains obscure, but epidemiological and animal studies have pointed to a close association with the prolonged usage of A. catechu nuts. Epithelial atypia and epidermoid carcinoma have been reported in 15% and 7%, respectively, of patients with established OSF. Preparations from varieties of A. catechu nuts have been tested for their ability to stimulate collagen synthesis in microwell cultures of human fibroblasts, using a pulse of 3H-proline and subsequent analysis of the cultures for radioactive collagen. Crude extracts of three varieties of areca nuts were extracted with ethanol and lyophilised before dilution in the culture medium. Control media contained identical concentrations of ethanol where appropriate. The three extracts at a concentration of 10 micrograms/ml stimulated collagen synthesis by approximately 150%, suggesting that this effect might be involved in the aetiology of oral submucous fibrosis.

  10. Permanent Childhood Hearing Impairment: Aetiological Evaluation of Infants identified through the Irish Newborn Hearing Screening Programme

    LENUS (Irish Health Repository)

    Smith, A

    2017-11-01

    The Newborn Hearing Screening Programme (NHSP) was established in Cork University Maternity Hospital (CUMH) in April 2011. Between April 2011 and July 2014, 42 infants were identified with a Permanent Childhood Hearing Impairment (PCHI). Following this diagnosis, infants underwent a paediatric assessment according to recognised guidelines with the intention of identifying the underlying aetiology of the PCHI. The aim of this study was to assess the findings of this aetiological workup via retrospective chart review. PCHI data was obtained from the eSP database. This is a web based information system (eSP) used to track each baby through the screening and referral process A retrospective chart review of these patients was performed. Sixteen (38%) infants were diagnosed with a bilateral sensorineural hearing loss. Two infants had congenital CMV infection. A Connexin 26 gene mutation was detected in one infant. Two infants were diagnosed with Waardenburg syndrome, One with Pendred syndrome and one with Pfeiffer syndrome. Five babies underwent cochlear implantation. Through adherence to the recommended protocol a possible cause of PCHI may be determined. This study has identified areas of future improvement for this service in Ireland.

  11. Role of Gut Microbiota in the Aetiology of Obesity: Proposed Mechanisms and Review of the Literature

    Science.gov (United States)

    Gerasimidis, Konstantinos; Edwards, Christine Ann; Shaikh, M. Guftar

    2016-01-01

    The aetiology of obesity has been attributed to several factors (environmental, dietary, lifestyle, host, and genetic factors); however none of these fully explain the increase in the prevalence of obesity worldwide. Gut microbiota located at the interface of host and environment in the gut are a new area of research being explored to explain the excess accumulation of energy in obese individuals and may be a potential target for therapeutic manipulation to reduce host energy storage. Several mechanisms have been suggested to explain the role of gut microbiota in the aetiology of obesity such as short chain fatty acid production, stimulation of hormones, chronic low-grade inflammation, lipoprotein and bile acid metabolism, and increased endocannabinoid receptor system tone. However, evidence from animal and human studies clearly indicates controversies in determining the cause or effect relationship between the gut microbiota and obesity. Metagenomics based studies indicate that functionality rather than the composition of gut microbiota may be important. Further mechanistic studies controlling for environmental and epigenetic factors are therefore required to help unravel obesity pathogenesis. PMID:27703805

  12. South African Muslim Faith Healers perceptions of mental illness: understanding, aetiology and treatment.

    Science.gov (United States)

    Ally, Yaseen; Laher, Sumaya

    2008-03-01

    The important role that religious beliefs may have on perceptions of mental illness cannot be ignored. Many religions including Islam advocate witchcraft and spirit possession--all of which are thought to influence the behaviour of a person so as to resemble that of a mentally ill individual. Thus this research explored Muslim Faith Healers perceptions of mental and spiritual illness in terms of their understanding of the distinctions between the two, the aetiologies and the treatments thereof. Six Muslim Healers in the Johannesburg community were interviewed and thematic content analysis was used to analyse the data. From the results it is clear that the faith healers were aware of the distinction between mental and spiritual illnesses. It was also apparent that Islam has a clear taxonomy that distinguishes illness and the causes thereof. Treatments are then advised accordingly. Thus this paper argues that the predominant Western view of the aetiology and understanding of mental illness needs to acknowledge the various culturally inclined taxonomies of mental illness so as to better understand and aid clients.

  13. Viral pneumonia in adults in sub-Saharan Africa – epidemiology, aetiology, diagnosis and management

    Directory of Open Access Journals (Sweden)

    Antonia Ho

    2014-06-01

    Full Text Available Community-acquired pneumonia causes substantial morbidity and mortality in sub-Saharan Africa with an estimated 131 million new cases each year. Viruses – such as influenza virus, respiratory syncytial virus and parainfluenza virus – are now recognised as important causes of respiratory disease in older children and adults in the developed world following the emergence of sensitive molecular diagnostic tests, recent severe viral epidemics, and the discovery of novel viruses. Few studies have comprehensively evaluated the viral aetiology of adult pneumonia in Africa, but it is likely to differ from Western settings due to varying seasonality and the high proportion of patients with immunosuppression and co-morbidities. Emerging data suggest a high prevalence of viral pathogens, as well as multiple viral and viral/bacterial infections in African adults with pneumonia. However, the interpretation of positive results from highly sensitive polymerase chain reaction tests can be challenging. Therapeutic and preventative options against viral respiratory infections are currently limited in the African setting. This review summarises the current state of the epidemiology, aetiology, diagnosis and management of viral pneumonia in sub-Saharan Africa.

  14. The prevalence, aetiology and management of wounds in a community care area in Ireland.

    LENUS (Irish Health Repository)

    Skerritt, Louise

    2014-06-01

    This study aimed to establish the prevalence and aetiology of wounds, allowing an insight into the management of wound care, the use of dressings and the nursing time allocated to the provision of wound care in a community setting in Ireland. A cross-sectional survey was used, with data collected on all clients in the community who received treatment from public health nurses or community registered general nurses for wound care over a 1-week period in April 2013. A 98.9% response rate was realised, and 188 people were identified as having wounds, equating to a crude prevalence of 5% of the active community nursing caseload. A total of 60% (n=112) had leg ulcers, 22% (n=42) had pressure ulcers, 16% (n=30) had an acute wound (surgical or traumatic wounds), 1% (n=2) had a diabetic foot wound and a further 1% (n=2) had wounds of other aetiologies. The mean duration of wounds was 5.41 months. A total of 18% of wounds were identified as infected; however, 60% (n=112) of wounds had antimicrobial products in use as either a primary or secondary dressing. The study established that there is a significant prevalence of wounds in this community care area. There was absence of a clinical diagnosis in many cases, and evidence of inappropriate dressing use, risking an increase in costs and a decrease in good clinical outcomes. It also highlighted the importance of ongoing education and auditing in the provision of wound care.

  15. Masculinity and emotion in Mexican men's understandings of erectile dysfunction aetiology and treatment.

    Science.gov (United States)

    Wentzell, Emily

    2014-01-01

    This paper investigates the role that emotions related to local gender norms play in urban Mexican men's understandings of erectile dysfunction (ED) aetiology and drug treatment by analysing semi-structured interviews with 28 male urology patients. Analysing narrative data from our interviews, the paper examines how these men drew differently from locally intelligible ways of understanding health and masculinity to develop context-specific understandings of causes and potential treatment outcomes. Study participants' feelings of success or failure in life areas relating to the performance of 'responsible' masculinity, especially work and romance, strongly influenced understandings of ED aetiology and goals for drug treatment. Those who felt successful at being men collaborated with loved ones to adopt purely biological understandings of ED causation, while those who expressed negative emotions about their performances of masculinity viewed these feelings, as well as the structural and interpersonal problems that caused them, as key causes and consequences of dysfunction. I discuss how these different emotional experiences led to different ways of using medication, and the relevance of these findings for clinical practice.

  16. Dental Erosion and Medical Conditions: An Overview of Aetiology, Diagnosis and Management.

    Science.gov (United States)

    Paryag, A; Rafeek, R

    2014-09-01

    Tooth wear or tooth surface loss is a normal physiological process and occurs throughout life but is considered pathological when the degree of destruction is excessive or the rate of loss is rapid, causing functional, aesthetic or sensitivity problems. The importance of tooth wear as a dental problem has been increasingly recognized. The findings of a study in Trinidad indicate that the prevalence of tooth wear in a Trinidadian population is comparable to the United Kingdom (UK) and, indeed, that the level of moderate and severe wear is in fact nearly twice as high. The aetiology of tooth wear is attributed to four causes: erosion, attrition, abrasion and abfraction. Erosion is generally considered to be the most prevalent cause of tooth wear in the UK and Europe. Acids that cause dental erosion originate mainly from the diet or the stomach and to a lesser extent, the environment. Underlying medical problems can contribute to the progress of tooth wear due to erosion and the patient may not be aware of these conditions. Moderate to severe tooth wear poses a significant clinical challenge to dental practitioners and may result in treatment that is more complex and costly to the patient both in terms of finances and time spent in the dental chair. This paper provides an overview of aetiology and diagnosis of tooth wear, in particular tooth wear due to erosion, so that medical and dental practitioners may recognize tooth wear early, institute preventive measures and manage patients appropriately.

  17. Cardiomyopathies as a Cause of Sudden Cardiac Death (SCD in Egypt: Recognition and Preventive Strategies Needed

    Directory of Open Access Journals (Sweden)

    Nora Fnon

    2016-06-01

    Full Text Available This study aimed at evaluating the epidemiological characteristics and pathological features of different types of cardiomyopathies in Egypt, highlighting the role of the forensic pathologist in identifying cases of cardiomyopathies and initiating for their families a possible genetic study aiming at prevention of sudden death. All cases with sudden cardiac death (SCD due to cardiomyopathies during the period from the beginning of January 2010 until the end of December 2014 (5 years were included in this study. All hearts underwent detailed gross and histological examination. Circumstances of death, medical history, and post-mortem pathological findings were thoroughly  investigated. Out of 535 cases of sudden cardiac death, there were 22 cases (4.1% diagnosed as having cardiomyopathies; sudden death was their first presentation. Eighteen cases (81.8% were male, with the 4th decade (11 cases, 50% being the most affected age; severe physical activity and exertion were evident in death circumstances of 14 cases (63.6%; pathological evaluation revealed that hypertrophic cardiomyopathy was the most frequent type, being diagnosed in 10 cases (45%. Cardiomyopathies are an infrequent cause of sudden cardiac death. Most deaths are in children and adults, so cases are of high social impact that demands multidisciplinary research and resources. In all cases of SCD, forensic autopsy should be done. Forensic study is the key to identifying an affected family and the starting point regarding assessing them.

  18. Bromocriptine treatment associated with recovery from peripartum cardiomyopathy in siblings: two case reports

    Directory of Open Access Journals (Sweden)

    Drexler Helmut

    2010-03-01

    Full Text Available Abstract Introduction Peripartum cardiomyopathy is a rare form of cardiomyopathy, with heterogeneous presentation occurring in women between one-month antepartum and six months postpartum. It carries a poor prognosis and a high risk of mortality. Case presentation We report the development of peripartum cardiomyopathy in two sisters, 27- and 35-year-old African women, one of whom presented with a large left ventricular thrombus. Subsequently, both patients were treated with bromocriptine, heparin and standard therapy for heart failure (angiotensin converting enzyme inhibitors, beta-blockers and diuretics. During follow-up, the left ventricular thrombus observed in one patient degraded. Neither patient experienced a thrombotic event, and both experienced continuous improvements in cardiac function and New York Heart Association stage. Conclusion The development of peripartum cardiomyopathy in two sisters indicates that there may be a genetic basis for this type of cardiomyopathy, and that women with a positive family history for peripartum cardiomyopathy may have an increased risk of developing the disease. This is also the first report of a patient experiencing degradation of a large left ventricular thrombus under standard therapy for heart failure with bromocriptine. It suggests that the use of bromocriptine in association with adequate anti-coagulation and heart failure therapy may be beneficial and safe.

  19. Association of caspase-1 polymorphisms with Chagas cardiomyopathy among individuals in Santa Cruz, Bolivia.

    Science.gov (United States)

    Fu, Katherine Yih-Jia; Zamudio, Roxana; Henderson-Frost, Jo; Almuedo, Alex; Steinberg, Hannah; Clipman, Steven Joseph; Duran, Gustavo; Marcus, Rachel; Crawford, Thomas; Alyesh, Daniel; Colanzi, Rony; Flores, Jorge; Gilman, Robert Hugh; Bern, Caryn

    2017-01-01

    Trypanosoma cruzi (Tc) infection is usually acquired in childhood in endemic areas, leading to Chagas disease, which progresses to Chagas cardiomyopathy in 20-30% of infected individuals over decades. The pathogenesis of Chagas cardiomyopathy involves the host inflammatory response to T. cruzi, in which upstream caspase-1 activation prompts the cascade of inflammatory chemokines/cytokines, cardiac remodeling, and myocardial dysfunction. The aim of the present study was to examine the association of two caspase-1 single nucleotide polymorphisms (SNPs) with cardiomyopathy. We recruited infected (Tc+, n = 149) and uninfected (Tc-, n = 87) participants in a hospital in Santa Cruz, Bolivia. Cardiac status was classified (I, II, III, IV) based on Chagas cardiomyopathy-associated electrocardiogram findings and ejection fractions on echocardiogram. Genotypes were determined using Taqman probes via reverse transcription-polymerase chain reaction of peripheral blood DNA. Genotype frequencies were analyzed according to three inheritance patterns (dominant, recessive, additive) using logistic regression adjusted for age and sex. The AA allele for the caspase-1 SNP rs501192 was more frequent in Tc+ cardiomyopathy (classes II, III, IV) patients compared to those with a normal cardiac status (class I) [odds ratio (OR) = -2.18, p = 0.117]. This trend approached statistical significant considering only Tc+ patients in class I and II (OR = -2.64, p = 0.064). Caspase-1 polymorphisms may play a role in Chagas cardiomyopathy development and could serve as markers to identify individuals at higher risk for priority treatment.

  20. [Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy].

    Science.gov (United States)

    Liu, X H; Ding, W W; Han, L; Liu, X R; Xiao, Y Y; Yang, J; Mo, Y

    2017-10-02

    Objective: To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Method: Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database. Result: Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to hypertrophic cardiomyopathy. The reported hypertrophic cardiomyopathy relevant genes MYPN, MYH6 and MYBP3 had also been found in case 1 and 2. Patients with same gene mutation had different clinical manifestations. Both case 4 and 5 had RAF1 mutation (c.770C>T). However, case 4 had special face, low IQ, mild pulmonary artery stenosis, and only mild ventricular hypertrophy. Conclusion: Noonan syndrome is a genetic heterogeneity disease. Our study identified specific gene mutations that could result in Noonan syndrome with hypertrophic cardiomyopathy through molecular biology methods. The results emphasize the importance of gene detection in the management of Noonan syndrome.

  1. Relationship between Traditional Chinese Beliefs about Aetiology of Mental Disorders and Help Seeking: A Survey of the Elderly in Macao.

    Science.gov (United States)

    Found, A

    2016-03-01

    A wide range of factors can influence help-seeking attitudes when individuals experience a mental disorder. The current study investigated the relationship between traditional Chinese beliefs related to the aetiology of mental disorders and help-seeking attitudes among elderly participants in Macao. In order to ensure the suitability of participants for inclusion in this study, the participants were required to complete an initial screening test using the Short Portable Mental Status Questionnaire (SPMSQ). Participants who successfully passed the test (n = 183) completed a questionnaire that included the Inventory of Attitudes Toward Seeking Mental Health Services (IASMHS), a set of 9 items related to traditional Chinese beliefs about aetiology of mental disorders and demographic items. The IASMHS scores were higher for female participants and for participants who had completed high school compared with those who had never attended school or who had only completed primary education. Endorsement of traditional Chinese beliefs about the aetiology of mental disorders was higher for male participants. There was a negative correlation between traditional Chinese aetiology beliefs related to mental disorders and help-seeking attitudes. Traditional Chinese beliefs related to the aetiology of mental disorders are a negative factor that inhibits help seeking. Implications for efforts to increase the utilisation of mental health services by the elderly are discussed.

  2. Risk factors, aetiology and outcome of ischaemic stroke in young adults: the Swiss Young Stroke Study (SYSS).

    Science.gov (United States)

    Goeggel Simonetti, Barbara; Mono, Marie-Luise; Huynh-Do, Uyen; Michel, Patrik; Odier, Celine; Sztajzel, Roman; Lyrer, Philippe; Engelter, Stefan T; Bonati, Leo; Gensicke, Henrik; Traenka, Christopher; Tettenborn, Barbara; Weder, Bruno; Fischer, Urs; Galimanis, Aekaterini; Jung, Simon; Luedi, Rudolf; De Marchis, Gian Marco; Weck, Anja; Cereda, Carlo W; Baumgartner, Ralf; Bassetti, Claudio L; Mattle, Heinrich P; Nedeltchev, Krassen; Arnold, Marcel

    2015-09-01

    Ischaemic stroke (IS) in young adults has been increasingly recognized as a serious health condition. Stroke aetiology is different in young adults than in the older population. This study aimed to investigate aetiology and risk factors, and to search for predictors of outcome and recurrence in young IS patients. We conducted a prospective multicentre study of consecutive IS patients aged 16-55 years. Baseline demographic data, risk factors, stroke aetiology including systematic genetic screening for Fabry disease and severity were assessed and related to functional neurological outcome (modified Rankin Scale, mRS), case fatality, employment status, place of residence, and recurrent cerebrovascular events at 3 months. In 624 IS patients (60% men), median age was 46 (IQR 39-51) years and median NIHSS on admission 3 (IQR 1-8). Modifiable vascular risk factors were found in 73%. Stroke aetiology was mostly cardioembolism (32%) and of other defined origin (24%), including cervicocerebral artery dissection (17%). Fabry disease was diagnosed in 2 patients (0.3%). Aetiology remained unknown in 20%. Outcome at 3 months was favourable (mRS 0-1) in 61% and fatal in 2.9%. Stroke severity (p young adults with IS had modifiable vascular risk factors, emphasizing the importance of prevention strategies. Outcome was unfavourable in more than a third of patients and was associated with initial stroke severity and diabetes mellitus. Previous cerebrovascular events predicted recurrent ones.

  3. Childhood acute non-traumatic coma: aetiology and challenges in management in resource-poor countries of Africa and Asia.

    Science.gov (United States)

    Gwer, Samson; Chacha, Clifford; Newton, Charles R; Idro, Richard

    2013-08-01

    This review examines the best available evidence on the aetiology of childhood acute non-traumatic coma in resource-poor countries (RPCs), discusses the challenges associated with management, and explores strategies to address them. Publications in English and French which reported on studies on the aetiology of childhood non-traumatic coma in RPCs are reviewed. Primarily, the MEDLINE database was searched using the keywords coma, unconsciousness, causality, aetiology, child, malaria cerebral, meningitis, encephalitis, Africa, Asia, and developing countries. 14 records were identified for inclusion in the review. Cerebral malaria (CM) was the commonest cause of childhood coma in most of the studies conducted in Africa. Acute bacterial meningitis (ABM) was the second most common known cause of coma in seven of the African studies. Of the studies in Asia, encephalitides were the commonest cause of coma in two studies in India, and ABM was the commonest cause of coma in Pakistan. Streptococcus pneumoniae was the most commonly isolated organism in ABM. Japanese encephalitis, dengue fever and enteroviruses were the viral agents most commonly isolated. Accurate diagnosis of the aetiology of childhood coma in RPCs is complicated by overlap in clinical presentation, limited diagnostic resources, disease endemicity and co-morbidity. For improved outcomes, studies are needed to further elucidate the aetiology of childhood coma in RPCs, explore simple and practical diagnostic tools, and investigate the most appropriate specific and supportive interventions to manage and prevent infectious encephalopathies.

  4. BROWN DWARF BINARIES FROM DISINTEGRATING TRIPLE SYSTEMS

    International Nuclear Information System (INIS)

    Reipurth, Bo; Mikkola, Seppo

    2015-01-01

    Binaries in which both components are brown dwarfs (BDs) are being discovered at an increasing rate, and their properties may hold clues to their origin. We have carried out 200,000 N-body simulations of three identical stellar embryos with masses drawn from a Chabrier IMF and embedded in a molecular core. The bodies are initially non-hierarchical and undergo chaotic motions within the cloud core, while accreting using Bondi–Hoyle accretion. The coupling of dynamics and accretion often leads to one or two dominant bodies controlling the center of the cloud core, while banishing the other(s) to the lower-density outskirts, leading to stunted growth. Eventually each system transforms either to a bound hierarchical configuration or breaks apart into separate single and binary components. The orbital motion is followed for 100 Myr. In order to illustrate 200,000 end-states of such dynamical evolution with accretion, we introduce the “triple diagnostic diagram,” which plots two dimensionless numbers against each other, representing the binary mass ratio and the mass ratio of the third body to the total system mass. Numerous freefloating BD binaries are formed in these simulations, and statistical properties are derived. The separation distribution function is in good correspondence with observations, showing a steep rise at close separations, peaking around 13 AU and declining more gently, reaching zero at separations greater than 200 AU. Unresolved BD triple systems may appear as wider BD binaries. Mass ratios are strongly peaked toward unity, as observed, but this is partially due to the initial assumptions. Eccentricities gradually increase toward higher values, due to the lack of viscous interactions in the simulations, which would both shrink the orbits and decrease their eccentricities. Most newborn triple systems are unstable and while there are 9209 ejected BD binaries at 1 Myr, corresponding to about 4% of the 200,000 simulations, this number has grown to

  5. BROWN DWARF BINARIES FROM DISINTEGRATING TRIPLE SYSTEMS

    Energy Technology Data Exchange (ETDEWEB)

    Reipurth, Bo [Institute for Astronomy and NASA Astrobiology Institute University of Hawaii, 640 N. Aohoku Place, Hilo, HI 96720 (United States); Mikkola, Seppo, E-mail: reipurth@ifa.hawaii.edu, E-mail: Seppo.Mikkola@utu.fi [Tuorla Observatory, University of Turku, Väisäläntie 20, Piikkiö (Finland)

    2015-04-15

    Binaries in which both components are brown dwarfs (BDs) are being discovered at an increasing rate, and their properties may hold clues to their origin. We have carried out 200,000 N-body simulations of three identical stellar embryos with masses drawn from a Chabrier IMF and embedded in a molecular core. The bodies are initially non-hierarchical and undergo chaotic motions within the cloud core, while accreting using Bondi–Hoyle accretion. The coupling of dynamics and accretion often leads to one or two dominant bodies controlling the center of the cloud core, while banishing the other(s) to the lower-density outskirts, leading to stunted growth. Eventually each system transforms either to a bound hierarchical configuration or breaks apart into separate single and binary components. The orbital motion is followed for 100 Myr. In order to illustrate 200,000 end-states of such dynamical evolution with accretion, we introduce the “triple diagnostic diagram,” which plots two dimensionless numbers against each other, representing the binary mass ratio and the mass ratio of the third body to the total system mass. Numerous freefloating BD binaries are formed in these simulations, and statistical properties are derived. The separation distribution function is in good correspondence with observations, showing a steep rise at close separations, peaking around 13 AU and declining more gently, reaching zero at separations greater than 200 AU. Unresolved BD triple systems may appear as wider BD binaries. Mass ratios are strongly peaked toward unity, as observed, but this is partially due to the initial assumptions. Eccentricities gradually increase toward higher values, due to the lack of viscous interactions in the simulations, which would both shrink the orbits and decrease their eccentricities. Most newborn triple systems are unstable and while there are 9209 ejected BD binaries at 1 Myr, corresponding to about 4% of the 200,000 simulations, this number has grown to

  6. Recovery and normalization of triple coincidences in PET

    Energy Technology Data Exchange (ETDEWEB)

    Lage, Eduardo, E-mail: elage@mit.edu; Parot, Vicente; Dave, Shivang R.; Herraiz, Joaquin L. [Madrid-MIT M+Visión Consortium, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139 (United States); Moore, Stephen C.; Sitek, Arkadiusz; Park, Mi-Ae [Division of Nuclear Medicine, Department of Radiology, Harvard Medical School and Brigham and Women’s Hospital, Boston, Massachusetts 02115 (United States); Udías, Jose M. [Grupo de Física Nuclear, Departamento de Física Atómica Molecular y Nuclear, Universidad Complutense de Madrid, CEI Moncloa, Madrid 28040 (Spain); Vaquero, Juan J. [Departamento de Ingeniería Biomédica e Ingeniería Aeroespacial, Universidad Carlos III de Madrid, Leganés 28911 (Spain)

    2015-03-15

    Purpose: Triple coincidences in positron emission tomography (PET) are events in which three γ-rays are detected simultaneously. These events, though potentially useful for enhancing the sensitivity of PET scanners, are discarded or processed without special consideration in current systems, because there is not a clear criterion for assigning them to a unique line-of-response (LOR). Methods proposed for recovering such events usually rely on the use of highly specialized detection systems, hampering general adoption, and/or are based on Compton-scatter kinematics and, consequently, are limited in accuracy by the energy resolution of standard PET detectors. In this work, the authors propose a simple and general solution for recovering triple coincidences, which does not require specialized detectors or additional energy resolution requirements. Methods: To recover triple coincidences, the authors’ method distributes such events among their possible LORs using the relative proportions of double coincidences in these LORs. The authors show analytically that this assignment scheme represents the maximum-likelihood solution for the triple-coincidence distribution problem. The PET component of a preclinical PET/CT scanner was adapted to enable the acquisition and processing of triple coincidences. Since the efficiencies for detecting double and triple events were found to be different throughout the scanner field-of-view, a normalization procedure specific for triple coincidences was also developed. The effect of including triple coincidences using their method was compared against the cases of equally weighting the triples among their possible LORs and discarding all the triple events. The authors used as figures of merit for this comparison sensitivity, noise-equivalent count (NEC) rates and image quality calculated as described in the NEMA NU-4 protocol for the assessment of preclinical PET scanners. Results: The addition of triple-coincidence events with the

  7. Recovery and normalization of triple coincidences in PET.

    Science.gov (United States)

    Lage, Eduardo; Parot, Vicente; Moore, Stephen C; Sitek, Arkadiusz; Udías, Jose M; Dave, Shivang R; Park, Mi-Ae; Vaquero, Juan J; Herraiz, Joaquin L

    2015-03-01

    Triple coincidences in positron emission tomography (PET) are events in which three γ-rays are detected simultaneously. These events, though potentially useful for enhancing the sensitivity of PET scanners, are discarded or processed without special consideration in current systems, because there is not a clear criterion for assigning them to a unique line-of-response (LOR). Methods proposed for recovering such events usually rely on the use of highly specialized detection systems, hampering general adoption, and/or are based on Compton-scatter kinematics and, consequently, are limited in accuracy by the energy resolution of standard PET detectors. In this work, the authors propose a simple and general solution for recovering triple coincidences, which does not require specialized detectors or additional energy resolution requirements. To recover triple coincidences, the authors' method distributes such events among their possible LORs using the relative proportions of double coincidences in these LORs. The authors show analytically that this assignment scheme represents the maximum-likelihood solution for the triple-coincidence distribution problem. The PET component of a preclinical PET/CT scanner was adapted to enable the acquisition and processing of triple coincidences. Since the efficiencies for detecting double and triple events were found to be different throughout the scanner field-of-view, a normalization procedure specific for triple coincidences was also developed. The effect of including triple coincidences using their method was compared against the cases of equally weighting the triples among their possible LORs and discarding all the triple events. The authors used as figures of merit for this comparison sensitivity, noise-equivalent count (NEC) rates and image quality calculated as described in the NEMA NU-4 protocol for the assessment of preclinical PET scanners. The addition of triple-coincidence events with the authors' method increased peak

  8. Sudden cardiac arrest in a young patient with hypertrophic cardiomyopathy and zero canonical risk factors: the inherent limitations of risk stratification in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Kohorst, John J; Bos, J Martijn; Hagler, Donald J; Ackerman, Michael J

    2014-01-01

    Hypertrophic cardiomyopathy is the most common heritable cardiovascular disease and a common cause of sudden cardiac death (SCD) in young adolescents and athletes. Clinical risk stratification for SCD is predicated on the presence of established risk factors; however, this assessment is far from perfect. Herein, we present a 16-year-old male who was resuscitated successfully from his sentinel event of out-of-hospital cardiac arrest. Prior to this event, he was asymptomatic and lacked all traditional SCD-predisposing risk factors for hypertrophic cardiomyopathy. © 2013 Wiley Periodicals, Inc.

  9. Sudden cardiac death with triple pathologies: A case report

    Directory of Open Access Journals (Sweden)

    R. Razuin

    2017-06-01

    Full Text Available Sudden cardiac death in young adults may be associated with rare cardiomyopathies such as left ventricular noncompaction (LVNC and arrhythmogenic right ventricular (ARVC cardiomyopathies. LVNC is characterised by hypertrabeculations and deep recesses of the left ventricle. ARVC presents with thin myocardium as a result of extensive fibro-fatty infiltrations. In both conditions, death may be due to arrhythmia, thromboembolic events or heart failure. We report a case of a 21-year old athletic young man who collapsed at the futsal court right after the game. He was resuscitated but expired at the hospital after a brief admission. A week earlier, he had a similar episode of syncope and revived through cardio-pulmonary resuscitation at the site. Post mortem examination showed extensive acute myocardial infarction (AMI involving the papillary muscles and the left ventricular wall. Features of LVNC were also observed. On top of that, the right ventricle showed patchy thin myocardium as the wall was largely comprised of fat. Histology examination confirmed the presence of AMI and massive fibro-fatty infiltrations of the right ventricle. This unfortunate young man had co-existing cardiomyopathies which is rare indeed. As he succumbed to AMI, this mechanism of death is also uncommonly associated with neither LVNC nor ARVC. In conclusion, young and physically active individuals may not be spared of sudden cardiac death. Mild and non-specific symptoms should not be taken lightly as it may be the subtle signs of cardiomyopathies.

  10. Triple Play Service and IPTV Services Offered within it

    Directory of Open Access Journals (Sweden)

    Dagmar Pajdusakova

    2008-01-01

    Full Text Available This paper deals with Triple Play multimedia service and figures its architecture. Triple Play offers voice, video and data services together in one customer connection. There is offered IPTV (Internet Protocol Television service within this service, where we can include also Video on Demand service and other different additional services. In the paper is described classification of Video on Demand services.

  11. Absolute migration and the evolution of the Rodriguez triple junction ...

    African Journals Online (AJOL)

    The Rodriguez Triple Junction (RTJ) is a junction connecting three mid-ocean ridges in the Indian Ocean: the Southwest Indian Ridge (SWIR), the Central Indian Ridge (CIR) and the Southeast Indian Ridge (SEIR). The evolution of the RTJ has been studied extensively for the past 10 Ma and the triple junction is believed to ...

  12. Government and Governance of Regional Triple Helix Interactions

    Science.gov (United States)

    Danson, Mike; Todeva, Emanuela

    2016-01-01

    This conceptual paper contributes to the discussion of the role of regional government and regional Triple Helix constellations driving economic development and growth within regional boundaries. The impact of regionalism and subsidiarity on regional Triple Helix constellations, and the questions of governmentality, governance and institutional…

  13. Unexpected Hydration of a Triple Bond During DNA Synthesis

    DEFF Research Database (Denmark)

    Fatthalla, Maha I.; Pedersen, Erik B.

    2016-01-01

    acidic conditions, polarizes the triple bond in the intercalator and this makes hydration of the triple bond possible during the DNA synthesis and an oligonucleotide with 1-(indol-3-yl)-2-(pyren-1-yl)ethanone as the intercalator is formed. Insertion of the unhydrated and hydrated linker systems gave...

  14. Triple junction polymer solar cells for photoelectrochemical water splitting

    NARCIS (Netherlands)

    Esiner, S.; Eersel, van H.; Wienk, M.M.; Janssen, R.A.J.

    2013-01-01

    A triple junction polymer solar cell in a novel 1 + 2 type configuration provides photoelectrochemical water splitting in its maximum power point at V ˜ 1.70 V with an estimated solar to hydrogen energy conversion efficiency of 3.1%. The triple junction cell consists of a wide bandgap front cell and

  15. Regional Dimensions of the Triple Helix Model: Setting the Context

    Science.gov (United States)

    Todeva, Emanuela; Danson, Mike

    2016-01-01

    This paper introduces the rationale for the special issue and its contributions, which bridge the literature on regional development and the Triple Helix model. The concept of the Triple Helix at the sub-national, and specifically regional, level is established and examined, with special regard to regional economic development founded on…

  16. "Special Issue": Regional Dimensions of the Triple Helix Model

    Science.gov (United States)

    Todeva, Emanuela; Danson, Mike

    2016-01-01

    This paper introduces the rationale for the special issue and its contributions, which bridge the literature on regional development and the Triple Helix model. The concept of the Triple Helix at the sub-national, and specifically regional, level is established and examined, with special regard to regional economic development founded on…

  17. [Aspects of aetiology of neuro-psychic disorders in male liquidators of Chernobyl nuclear power accident consequences].

    Science.gov (United States)

    Skavysh, V A

    2009-01-01

    The author considered aetiology of neuro-psychic disorders in liquidators of Chernobyl nuclear power accident consequences, demonstrated scientific value of studying the liquidators cohort, as they were protected from internal radiation factors and reside on radiation "pure" territories. External radiation doses in those liquidators vary from 16 cGy to 18.7 +/- 10.8 cGy, according to the author. Catamnesis enabled to doubt radiation aetiology of psychic organic syndrome revealed in 1991-1994 by clinical and instrumental studies among 53.6% of 213 male examinees. According to the author, prolonged over 1-2 months external radiation of low dose could not cause health deterioration in adult males. Diagnosed psychic organic syndrome and vascular encephalopathy in some cases could have alcohol aetiology. This conclusion is not extrapolated to the whole liquidators cohort.

  18. [Myocardial regional thickness in patients with and without cardiomyopathy assessed by cardiac magnetic resonance].

    Science.gov (United States)

    de Zan, Macarena; Carrascosa, Patricia; Deviggiano, Alejandro; Capuñay, Carlos; Rodríguez-Granillo, Gastón A

    To explore regional differences in myocardial wall thickness (WT) among the most prevalent cardiomyopathies and in individuals without structural heart disease using cardiac magnetic resonance. Patients older than 18 years referred to cardiac magnetic resonance during the period between January 2014 and September 2014, with a diagnosis of hypertrophic cardiomyopathy, idiopathic dilated cardiomyopathy, ischemic cardiomyopathy, and myocarditis were retrospectively selected from our database. One hundred twenty patients patients were included. The control group had an average WT of 5.9±1.1mm, with a WT index of 2.9±0.8. Significantly lower mean WT in the apical segments were identified in both the control group (basal 6.7±1.3 vs. mid 6.0±1.3 vs. apical 4.6±1.0mm, P<.0001) and in all evaluated cardiomyopathies (hypertrophic cardiomyopathy: basal 10.5±2.4 vs. mid 10.8±2.7 vs. apical 7.3±3.3mm, P<.0001; idiopathic dilated cardiomyopathy: basal 7.7±1.7 vs. mid 7.6±1.3 vs. apical 5.4±1.3mm, P<.0001; ischemic cardiomyopathy: basal 7.4±1.7 vs. mid 7.5±1.9 vs. apical 5.5±1.8mm, P<.0001; myocarditis: basal 7.1±1.5 vs. mid 6.4±1.1 vs. apical 5.1±0.8, P<.0001). Significant gender differences were also evident regarding the mean WT both in the control group (male 6.5±2.1 vs. female 5.2±1.7mm, P<.0001), as in hypertrophic cardiomyopathy (10.5±5.3 vs. 8.5±5.7mm, P<.0001) and myocarditis (6.6±2.0 vs. 5.2±1.6mm, P<.0001). We found a relatively high prevalence of segments commonly deemed thinned among patients without structural heart disease. We also observed a marked asymmetry and longitudinal gradient in wall thickness both in controls and in the various cardiomyopathies evaluated. Copyright © 2016 Instituto Nacional de Cardiología Ignacio Chávez. Publicado por Masson Doyma México S.A. All rights reserved.

  19. [Stroke in young adults: incidence and clinical picture in 280 patients according to their aetiological subtype].

    Science.gov (United States)

    Arboix, Adrià; Massons, Joan; García-Eroles, Luís; Oliveres, Montserrat

    2016-03-04

    To assess the clinical features and incidence rate of stroke in young adults (less than 55 years of age). Hospital-based descriptive study of 280 young inpatients consecutively admitted for stroke over a period of 24 years. We conducted a comparison with the remaining 4,312 patients admitted for stroke. Stroke in young adults represented 6.1% of all strokes, 5.7% of transient ischaemic attacks, 5.8% of cerebral infarctions and 8.4% of brain haemorrhages. However, reported minimal frequency of cardioembolic (2.1%) and atherothrombotic (3.4%) infarctions, accounted for 5.9% of lacunar and for 10.7% of essential infarctions and showed a maximum frequency in those infarctions of unusual aetiology (36%). Factors independently associated with stroke in young adults were cigarette smoking (OR 4.23; 95% CI 3.02-5.93; P=.000), unusual aetiology (OR 4.97; 95% CI 3.15-7.84; P=.000), headache (OR 4.57; 95% CI 2.59-8.07; P=.000), alcohol abuse (OR 3.93; 95% CI 2.46-6.29; P=.000), oral contraceptives (OR 14.07; 95% CI 2.37-83.40; P=.004), atrial fibrillation (OR 0.15; 95% CI 0.08-0.28; P=.000), arterial hypertension (OR 0.43; 95% CI 0.33-0.57; P=.000), COPD (OR 0.20; 95% CI 0.09-0.44; P=.000), atherothrombotic infarction (OR 0.51; 95% CI 0.34-0.77; P=.001), female sex (OR 0.71; 95% CI 0.52-0.97; P=.029), diabetes mellitus (OR 0.66; 95% CI 0.46-0.98; P=.030), ischaemic heart disease (OR 0.56; 95% CI 0.33-0.95; P=.032) and intermittent claudication (OR 0.48; 95% CI 0.24-0.94; P=.033). Stroke in young adults is infrequent (6.1% of the total), but represents the highest frequency of cerebral infarcts of unusual aetiology (36%). We conclude that stroke in younger patients presents its own and differentiated clinical profile. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

  20. CLINICAL OUTCOME OF PENETRATING KERATOPLASTY IN CORNEAL OPACITIES OF DIFFERENT AETIOLOGY- A CLINICAL STUDY

    Directory of Open Access Journals (Sweden)

    Dipak Bhuyan

    2017-01-01

    Full Text Available BACKGROUND Corneal transplantation or grafting is an operation in which abnormal corneal host tissue is replaced by healthy donor cornea. According to the World Health Organization (WHO, corneal diseases are among the major causes of vision loss and blindness in the world today after cataract and glaucoma. The aim of the study is to- 1. Evaluate the different aetiology of corneal opacity including active infective aetiology as indicated for penetrating keratoplasty. 2. Determine the clinical outcome of penetrating keratoplasty in relation to graft survival, graft rejection and peri-operative complications in different aetiology groups. 3. Determine the final visual outcome. MATERIALS AND METHODS Candidates for keratoplasty were selected from- 1. Eye Bank of Regional Institute of Ophthalmology (R.I.O. 2. R.I.O OPD. The study period was from September 2014 to August 2015. 30 cases were taken in the study. Descriptive statistics were applied to analyse the data wherever necessary. RESULTS 34.6±19.73 yrs. (mean±SD was the mean age at which transplants were done in the study. Out of total 30 cases, 13 (43.33% and 17 (56.66% were male and female, respectively. The different indications for penetrating keratoplasty are- Post ulcer corneal opacity in 14 cases (46.66%, posttraumatic corneal opacity 9 cases (30%, pseudophakic bullous keratopathy 4 cases (13.33%, corneal dystrophy in 2 cases (6.66% and non-healing corneal ulcer in 1 case (3.33%. 16 cases (53.33% showed clear graft till the last follow up while 11 (33.33% cases showed partially clear graft resulting in improved visual outcome while 3 cases (10.00% of the grafts were opaque due to graft failure. CONCLUSION The major indications for penetrating keratoplasty in this part of the world are post ulcer and posttraumatic corneal opacity and majority of them are illiterate agricultural workers who failed to get adequate treatment on time. Graft survival rate is high, which can be attributed to the