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Elizabeth J Bhoj, Zhenming Yu, Qiaoning Guan, Rebecca Ahrens-Nicklas, Kajia Cao, Minjie Luo, Tanya Tischler, Matthew A Deardorff, Elaine Zackai, Avni B Santani
INTRODUCTION: RASopathies include disorders generally characterized by developmental delay, specific heart defects, short stature, cardiac hypertrophy, and facial dysmorphisms. Next-generation sequencing (NGS)-based panels have widespread acceptance as a diagnostic tool for RASopathies. MATERIALS AND METHODS: The first 126 patients evaluated by clinical examination and the NGS RASopathy panel at the Children's Hospital of Philadelphia were enrolled. We calculated diagnosis rate, correlated reported clinical findings with positive or negative test results, and identified final molecular diagnoses in 28/96 patients who tested negative for RASopathies...
October 20, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Aneeta Bhatia
The tricuspid is the lost valve and the pulmonary being the most anterior, is not visualized well on TEE; The Pulmonary valve is a semilunar valve that separates the right ventricle from the pulmonary artery. It is situated anterior and superior to the aortic valve, almost at right angle to the aortic valve and parallel to the beam of the ultrasound.
October 2016: Annals of Cardiac Anaesthesia
Prakash Aroor Sarvotham Rao, S N Nagendra Prakash, Somanath Vasudev, M Girish, Arun Srinivas, H P Guru Prasad, P Jayakumar, Venu Gopal Anandaswamy
We present a 62-year-old lady admitted in our hospital with two episodes of acute ischemic stroke about 2 weeks apart. She was evaluated for acute ischemic stroke and was thrombolysed for recent stroke in right MCA territory first time. On further evaluation, she was found to have a RVOT mass. A transthoracic and transesophageal echocardiogram revealed a PFO and a large, 5.1cm×2.3cm, ovoid, well circumscribed, echogenic mass in the right ventricle outflow tract attached by small pedicle to the ventricular side of anterior tricuspid leaflet, partly obstructing the right ventricular outflow tract and protruding through the pulmonic valve during systole...
September 2016: Indian Heart Journal
Siva Nageswara Rao Guttikonda
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Sasha K Shillcutt, Guido Tavazzi, Brian P Shapiro, Jose Diaz-Gomez
No abstract text is available yet for this article.
July 14, 2016: Journal of Cardiothoracic and Vascular Anesthesia
Valérie Chetboul, Isabelle Pitsch, Renaud Tissier, Vassiliki Gouni, Charlotte Misbach, Emilie Trehiou-Sechi, Amandine M Petit, Cécile Damoiseaux, Jean-Louis Pouchelon, Loïc Desquilbet, Eric Bomassi
OBJECTIVE To characterize the epidemiological, clinical, and echocardiographic features of dogs and cats with tetralogy of Fallot (TOF) and determine their survival times. DESIGN Retrospective case series. ANIMALS 15 dogs and 16 cats with a diagnosis of TOF as determined via echocardiography. PROCEDURES Medical records of dogs and cats were reviewed to extract information on signalment, clinical status at the time of TOF diagnosis, echocardiographic findings, and any outcome data. RESULTS The most common canine breeds were terrier types (n = 7)...
October 15, 2016: Journal of the American Veterinary Medical Association
P Laborda-Vidal, B Pedro, M Baker, A R Gelzer, J Dukes-McEwan, T W Maddox
Pulmonic stenosis (PS) is the most common congenital cardiac disease in dogs. Boxers and English bulldogs are among the most commonly affected breeds and also commonly associated with an aberrant coronary artery (CA). If an aberrant CA is suspected and balloon valvuloplasty indicated, an intra-operative angiography is recommended prior to the procedure. ECG-gated computed tomography (CT) can be used to screen for CA anomalies in a quick and minimally-invasive way (preventing side effects associated with selective catheter angiography) and allowing early planning of the procedure...
September 29, 2016: Journal of Veterinary Cardiology: the Official Journal of the European Society of Veterinary Cardiology
Sandeep A Saha, Kousik Krishnan, Christopher Madias, Richard G Trohman
A 34-year-old man with Brugada syndrome (BrS) presented with electrical storm, manifested as multiple appropriate shocks from his implantable cardioverter-defibrillator over a period of 7 hours. He had not tolerated prior treatment with quinidine, and had self-discontinued cilostazol citing persistent palpitations. After stabilization with intravenous isoproterenol, an electrophysiology study was performed but no spontaneous or induced ventricular ectopic beats were identified. A three-dimensional (3D) endocardial electro-anatomic map of the right ventricular outflow tract (RVOT), pulmonic valve, and pulmonary artery, as well as a 3D epicardial map of the RVOT, were created...
September 19, 2016: Cardiology and Therapy
Deana Mikhalkova, Eric Novak, Ari Cedars
In the adult congenital heart disease (ACHD) population, pulmonary valve replacement (PVR) is a common intervention, its benefit, however, has been incompletely investigated. This study investigates short- and intermediate-term outcomes after PVR in ACHD. Using State Inpatient Databases from the Healthcare Cost and Utilization Project, we investigated both hospitalization rate and financial burden accrued over the 12-month period after PVR compared with the 12 months before. Among 202 patients who underwent PVR, per patient-year hospitalization rates doubled in the year after PVR compared with the year before (0...
August 22, 2016: American Journal of Cardiology
Simon Pingel, Sebastian Gorgonius Passon, Kristin Solveig Pausewang, Anna Katharina Blatzheim, Carmen Pizarro, Izabela Tuleta, Martin Gliem, Peter Charbel Issa, Nadjib Schahab, Georg Nickenig, Dirk Skowasch, Christian Alexander Schaefer
BACKGROUND: Pseudoxanthoma elasticum (PXE) is an autosomal-recessive mineralisation disorder caused by loss of function mutations in the ABCC6 Gen. Histological findings and data of an autopsy of a PXE-patient suggest a possible pulmonal calcification. So far, there exists no clinical data whether PXE patients actually are at high risk of developing pulmonary disorder. METHODS: In a cross-sectional study, 35 PXE patients and 15 healthy controls underwent a pulmonary function testing, including spirometry, body plethysmography and carbon monoxide diffusing test...
2016: PloS One
Sara V Brant, Eric S Loker, Laura Casalins, Veronica R Flores
In the blood fluke family Schistosomatidae, marine snails are well known as intermediate hosts. Eight families of marine snails have thus far been reported to host schistosomes across the world, most of which have been implicated in human cercarial dermatitis (HCD) outbreaks. As part of our larger effort to define the species diversity and biology of schistosomes in Argentina, in particular their role in causing HCD, we searched in the marine pulmonate snail (Siphonaria lessoni) for a schistosome species described previously from S...
September 9, 2016: Journal of Parasitology
Patrick A Calvert, David B Northridge, Iqbal S Malik, Leonard Shapiro, Peter Ludman, Shakeel A Qureshi, Michael Mullen, Robert Henderson, Mark Turner, Martin Been, Kevin P Walsh, Ivan Casserly, Lindsay Morrison, Nicola L Walker, John Thomson, Mark S Spence, Vaikom S Mahadevan, Angela Hoye, Philip A MacCarthy, Matthew J Daniels, Paul Clift, William R Davies, Philip D Adamson, Gareth Morgan, Suneil K Aggarwal, Yasmin Ismail, Julian O M Ormerod, Habib R Khan, Sujay Subash Chandran, Joseph de Giovanni, Bushra S Rana, Oliver Ormerod, David Hildick-Smith
BACKGROUND: Paravalvular leak (PVL) occurs in 5% to 17% of patients following surgical valve replacement. Percutaneous device closure represents an alternative to repeat surgery. METHODS: All UK and Ireland centers undertaking percutaneous PVL closure submitted data to the UK PVL Registry. Data were analyzed for association with death and major adverse cardiovascular events (MACE) at follow-up. RESULTS: Three hundred eight PVL closure procedures were attempted in 259 patients in 20 centers (2004-2015)...
September 27, 2016: Circulation
Prema Ramaswamy, Daniela Rafii, Marina Osmolovsky, Arpit Agarwal, Cynthia Amirtharaj
Evidence suggests an association between left heart obstructive lesions and dilated coronary sinus (DCS), but this has not been studied in fetuses. A retrospective review of fetal echocardiograms (FE) over an 8-year period was conducted, and patients with DCS were identified and confirmed postnatally. There were 5840 FE performed on 4920 women during this period. Of 49 patients with DCS, 22 had normal intracardiac anatomy and 27 patients had congenital heart disease (CHD) yielding an incidence of 4.6 % in the presence of CHD (27/584)...
August 24, 2016: Pediatric Cardiology
Kinza Sentissi, Mandeep S Sawhney, Douglas Pleskow, Paul Sepe, Jose M Mella, Benjamin Kwittken, Gyanprakash Ketwaroo, Balachundhar Subramaniam
In this prospective observational study, conducted at an academic medical center, we evaluated the feasibility of performing a basic transesophageal echocardiography (TEE) examination using endoscopic ultrasound (EUS) technology to determine what cardiac structures could be assessed. This may be potentially beneficial during hemodynamic emergencies in the endoscopy suite resulting from hypovolemia, depressed ventricular function, aortic dissection, pericardial effusions, or aortic stenosis. Of the 20 patients enrolled, 18 underwent EUS with a linear echoendoscope for standard clinical indications followed by a cardiac assessment performed under the guidance of a TEE-certified cardiac anesthesiologist...
September 2016: Anesthesia and Analgesia
Ada C Stefanescu Schmidt, Doreen DeFaria Yeh, Sara Tabtabai, Kevin F Kennedy, Robert W Yeh, Ami B Bhatt
The population of adults with tetralogy of Fallot (TOF) is growing, and it is not known how the changes in age distribution, treatment strategies, and prevalence of co-morbidities impact their interaction with the health care system. We sought to analyze the frequency and reasons for hospital admissions over the past decade. We extracted serial cross-sectional data from the United States Nationwide Inpatient Sample on hospitalizations including the diagnostic code for TOF from 2000 to 2011. From 2000 to 2011, there were 20,545 admissions for subjects with TOF, with a steady increase in annual number...
September 15, 2016: American Journal of Cardiology
Catharina Clewing, Christian Albrecht, Thomas Wilke
Although only relatively few freshwater invertebrate families are reported from the Tibetan Plateau, the degree of endemism may be high. Many endemic lineages occur within permafrost areas, raising questions about the existence of isolated intra-plateau glacial refugia. Moreover, if such refugia existed, it might be instructive to learn whether they were associated with lakes or with more dynamic ecosystems such as ponds, wetlands, or springs. To study these hypotheses, we used pulmonate snails of the plateau-wide distributed genus Radix as model group and the Lake Donggi Cona drainage system, located in the north-eastern part of the plateau, as model site...
2016: PloS One
Elvin Zengin, Christoph Sinning, Ulrich Schäfer
No abstract text is available yet for this article.
August 8, 2016: JACC. Cardiovascular Interventions
Satwant Kaur, Alice Baynes, Anne E Lockyer, Edwin J Routledge, Catherine S Jones, Leslie R Noble, Susan Jobling
Gastropod mollusks have been proposed as alternative models for male reproductive toxicity testing, due to similarities in their reproductive anatomy compared to mammals, together with evidence that endocrine disrupting chemicals can cause effects in some mollusks analogous to those seen in mammals. To test this hypothesis, we used the freshwater pulmonate snail, Biomphalaria glabrata, for which various genetic tools and a draft genome have recently become available, to investigate the effects of two steroid androgens on the development of mollusk secondary sexual organs...
2016: PloS One
Atsushi Sato, Kikuo Isoda, Yodo Gatate, Koji Akita, Hiroyuki Daida
A 69-year-old man was admitted to our hospital with cardiopulmonary arrest. Percutaneous cardio-pulmonary support (PCPS) using the right femoral artery and vein was initiated, because ventricular fibrillation continued. Although we succeeded in defibrillation after percutaneous coronary intervention (PCI), a chest radiograph indicated a pneumothorax in the right lung and a pulmonic contusion in the left lung caused by cardiopulmonary resuscitation. Two days after PCI, partial pressure of arterial oxygen (PaO2) from the right radial artery suddenly decreased, and his cardiac function showed improvement on an echocardiogram...
2016: Internal Medicine
Constantin Adams, Vanya Icheva, Caroline Deppisch, Josefine Lauer, Gloria Herrmann, Ute Graepler-Mainka, Susanne Heyder, Erich Gulbins, Joachim Riethmueller
BACKGROUND/AIMS: Several recent clinical studies revealed an accumulation of ceramide in bronchial epithelial cells of patients with cystic fibrosis (CF). Degradation of ceramide concentrations in lungs of CF patients employing the functional acid sphingomyelinase inhibitor amitriptyline revealed a benefit in lung function, weight and exacerbation rates. METHODS: To test for a beneficial effect of amitriptyline in vivo, we performed two phase II randomised, double-blind, placebo-controlled studies...
2016: Cellular Physiology and Biochemistry
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