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https://www.readbyqxmd.com/read/27922501/an-overview-of-congenital-myopathies
#1
Jean K Mah, Jeffrey T Joseph
PURPOSE OF REVIEW: This article uses a case-based approach to highlight the clinical features as well as recent advances in molecular genetics, muscle imaging, and pathophysiology of the congenital myopathies. RECENT FINDINGS: Congenital myopathies refer to a heterogeneous group of genetic neuromuscular disorders characterized by early-onset muscle weakness, hypotonia, and developmental delay. Congenital myopathies are further classified into core myopathies, centronuclear myopathies, nemaline myopathies, and congenital fiber-type disproportion based on the key pathologic features found in muscle biopsies...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27913750/congenital-heart-block-and-immune-mediated-sensorineural-hearing-loss-possible-cross-reactivity-of-immune-response
#2
C Bason, I Pagnini, A Brucato, S Maestroni, A Puccetti, C Lunardi, R Cimaz
Immune-mediated sensorineural hearing loss may complicate systemic autoimmune diseases. We have previously reported the presence of antibodies directed against inner ear antigens in patients with Cogan syndrome, a disease characterized by sudden hearing loss and interstitial keratitis. Such autoantibodies cross-react with an epitope of SSA/Ro60 protein. Anti-Ro/SSA antibodies in pregnant women cross the placenta and reach the fetal tissues inducing an immune-mediated damage of the cardiac conduction system...
December 2, 2016: Lupus
https://www.readbyqxmd.com/read/27909479/atrial-fibrillation-ablation-in-adults-with-repaired-congenital-heart-disease
#3
REVIEW
Marta Acena Md, Ignasi Anguera Md PhD, Paolo D Dallaglio Md, Marcos Rodriguez Md, Xavier Sabaté Md PhD
The incidence of atrial fibrillation (AF) in congenital heart disease (CHD) adults has increased in the past decades due to a longer life expectancy of this population where the subjects are exposed to cardiac overflow, overpressure and structural changes for years. The literature regarding AF ablation in repaired CHD adults emphasizes the importance of intracardiac echocardiography (ICE) to perform the transseptal puncture and the ablation procedure in the left atrium (LA), both effectively and safely. In small case control studies, where the predominant congenital cardiomyopathy was the atrial septal defect, the most common strategy for ablation was antral isolation of the pulmonary veins showing results, at one year follow-up, similar to those in the general population...
February 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/27907850/automated-annotation-and-quantitative-description-of-ultrasound-videos-of-the-fetal-heart
#4
Christopher P Bridge, Christos Ioannou, J Alison Noble
Interpretation of ultrasound videos of the fetal heart is crucial for the antenatal diagnosis of congenital heart disease (CHD). We believe that automated image analysis techniques could make an important contribution towards improving CHD detection rates. However, to our knowledge, no previous work has been done in this area. With this goal in mind, this paper presents a framework for tracking the key variables that describe the content of each frame of freehand 2D ultrasound scanning videos of the healthy fetal heart...
November 19, 2016: Medical Image Analysis
https://www.readbyqxmd.com/read/27906085/tissue-engineered-cardiac-patch-seeded-with-human-induced-pluripotent-stem-cell-derived-cardiomyocytes-promoted-the-regeneration-of-host-cardiomyocytes-in-a-rat-model
#5
Tadahisa Sugiura, Narutoshi Hibino, Christopher K Breuer, Toshiharu Shinoka
BACKGROUND: Thousands of babies are born with congenital heart defects that require surgical repair involving a prosthetic implant. Lack of growth in prosthetic grafts is especially detrimental in pediatric surgery. Cell seeded biodegradable tissue engineered grafts are a novel solution to this problem. The purpose of the present study is to evaluate the feasibility of seeding human induced pluripotent stem cell derived cardiomyocytes (hiPS-CMs) onto a biodegradable cardiac patch. METHODS: The hiPS-CMs were cultured on a biodegradable patch composed of a polyglycolic acid (PGA) and a 50:50 poly (l-lactic-co-ε-caprolactone) copolymer (PLCL) for 1 week...
December 1, 2016: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/27904843/cardiac-surgery-in-africa-a-thirty-five-year-experience-on-open-heart-surgery-in-cote-d-ivoire
#6
Koffi Herve Yangni-Angate, Christophe Meneas, Florent Diby, Manga Diomande, Anicet Adoubi, Yves Tanauh
BACKGROUND: Few centers for open heart surgery (OHS) are in Sub-Saharan Africa. Lack of OHS results is also noted. By reporting our African experience on OHS, the aim of this study was to fill the gap. METHODS: It is a retrospective study on 2,612 patients who were subject to an OHS between 1978 and 2013. Data were collected from demographical, clinical, investigative studies, surgical and outcomes parameters. RESULTS: There were 1,475 cases of rheumatic heart diseases (RHD), 126 endomyocardial fibrosis (EMF), 741 congenital heart diseases (CHDs) and 270 various affections...
October 2016: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/27904842/the-challenges-of-cardiothoracic-surgery-practice-in-nigeria-a-12-years-institutional-experience
#7
Bode Falase, Michael Sanusi, Adeola Animasahun, Ogadinma Mgbajah, Adetinuwe Majekodunmi, Onyekwelu Nzewi, Jonathan Nwiloh, David Oke
BACKGROUND: Although the specialty of cardiothoracic surgery has been practiced in Nigeria for many years, open heart surgery (OHS) has only in the last decade become relatively more frequent, mainly through visiting foreign cardiac surgical teams. At this early phase of development it is faced with multiple challenges, especially financing and local skilled manpower for which solutions have to be identified in order to ensure sustainability and future growth. This study is aimed at highlighting these obstacles to growth of cardiothoracic surgery based on our own institutional experience at Lagos State University Teaching Hospital (LASUTH) and the current status of OHS activity in other cardiothoracic centers in Nigeria...
October 2016: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/27904841/the-rebirth-of-cardiac-surgery-in-sudan
#8
Ahmed ElSayed, Elamin Elawad Elnur
BACKGROUND: Cardiac surgery is nowadays an integral part of a complete national health service. METHODS: In this paper the rebirth of cardiac surgery in Sudan from 1998 till 2007 is given by means of a literature search, personal interviews and searching hospital records. RESULTS: A summary of the initial birth of these services in 1959 till its demise in 1993 is first mentioned to set the stage for the subsequent period of sustainable growth...
October 2016: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/27902675/infected-congenital-epicardial-cyst-presenting-as-acute-abdomen
#9
Timothy Dribin, Matthew D Files, Erin R Rudzinski, Ron Kaplan, Kimberly P Stone
A previously healthy 3-year-old boy presented to the emergency department with abdominal pain, fever, and emesis. Laboratory and radiologic evaluation for causes of acute abdomen were negative; however, review of the abdominal x-ray demonstrated cardiomegaly with the subsequent diagnosis of pericardial cyst by echocardiogram and computed tomography. The patient underwent surgical decompression and attempted removal of the cystic structure revealing that the cyst originated from the epicardium. His abdominal pain and fever resolved postoperatively and he completed a 3-week course of ceftriaxone for treatment of Propionibacterium acnes infected congenital epicardial cyst...
December 2016: Pediatric Emergency Care
https://www.readbyqxmd.com/read/27901294/performance-of-functional-fibrinogen-thromboelastography-in-children-undergoing-congenital-heart-surgery
#10
Nischal K Gautam, Chunyan Cai, Olga Pawelek, Muhammad B Rafique, Davide Cattano, Evan G Pivalizza
BACKGROUND: Functional Fibrinogen assay of the Thromboelastography (FFTEG), a whole blood viscoelastic hemostatic assay, has been used to estimate fibrinogen levels in adult patients undergoing major surgery but its performance in pediatric patients undergoing cardiac surgery requires evaluation. In this study, we evaluate the correlation between FFTEG parameters and standard laboratory tests for fibrinogen and platelet counts before and after cardiopulmonary bypass in children undergoing repair for congenital heart disease...
November 30, 2016: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/27899867/a-very-rare-case-of-co-existence-of-cor-triatriatum-sinister-and-left-pulmonary-vein-atresia
#11
Mustafa Aparci, Murat Yalcin, Zafer Isilak, Mehmet Dogan, Ejder Kardesoglu
Cor triatriatum sinister (CTS) is a rare congenital abnormality. Clinical presentation of patients with CTS mainly depends on the anatomic features of membrane and may vary from mild or moderate symptoms mimicking mitral stenosis to more severe and complicated cardioembolic stroke or a new onset heart failure. We herein have reported on a young male who presented with the signs and symptoms of mitral stenosis and was diagnosed as CTS with gradient on the orifice of the membrane after transthrocacic echocardiography...
November 2016: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/27899865/necrotizing-pneumonia-caused-by-h1n1-virus-in-a-child-with-total-anomalous-pulmonary-venous-connection-after-cardiac-surgery
#12
Mehmet G Ramoğlu, Tayfun Uçar, Tanıl Kendirli, Zeynep Eyileten, Semra Atalay
Total anomalous pulmonary venous connection is a rare form of congenital heart disease, occurring in only 1.5% of children with congenital heart disease. Although the mortality and morbidity of total anomalous pulmonary venous connection have decreased dramatically due to improvements in surgery, postoperative pulmonary venous obstruction is still a cause of late mortality in patients with corrected total anomalous pulmonary venous connection. Influenza A H1N1, the most common cause of human influenza in 2009, may cause pneumonia presenting with increased disease severity...
November 2016: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/27894758/the-impact-of-cardiac-risk-factors-on-short-term-outcomes-for-children-undergoing-a-ladd-procedure
#13
Luke R Putnam, Kathryn T Anderson, KuoJen Tsao, Lillian S Kao, Jane A Lugo, Kevin P Lally, Akemi L Kawaguchi
BACKGROUND/PURPOSE: The purpose of this study was to describe the outcomes of children with and without congenital heart disease who undergo a Ladd procedure. METHODS: The 2012-2014 National Surgical Quality Improvement Program Pediatric (NSQIP-P) data were queried for patients undergoing a Ladd procedure. Utilizing NSQIP-P definitions, patients were categorized into four cardiac risk groups (none, minor, major, severe) based on severity of cardiac anomalies, previous cardiac procedure(s), and ongoing cardiac dysfunction...
October 21, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27894597/unexpected-cardiac-death-during-anaesthesia-of-a-young-rabbit-associated-with-fibro-fatty-replacement-of-the-right-ventricular-myocardium
#14
M Romanucci, S V P Defourny, M Massimini, V Valerii, A Arbuatti, V Giordano, L Bongiovanni, C Perrone, L Della Salda
A 6-month-old female pet rabbit was presented for routine ovariectomy. The pre-anaesthetic evaluation was unremarkable and no anaesthetic complications occurred during the procedure. However, at the end of the surgery, the rabbit suddenly showed acute bradycardia and cardiac death. Necropsy examination revealed marked dilation of the right ventricle, associated with diffuse thinning of the right ventricular free wall. Gross and histopathological findings were suggestive of a congenital dilated cardiomyopathy characterized by fibro-fatty replacement of the right ventricular myocardium...
November 25, 2016: Journal of Comparative Pathology
https://www.readbyqxmd.com/read/27893194/incidence-morphology-and-progression-of-bicuspid-aortic-valve-in-pediatric-and-young-adult-subjects-with-coexisting-congenital-heart-defects
#15
Talha Niaz, Joseph T Poterucha, Jonathan N Johnson, Cecilia Craviari, Thomas Nienaber, Jared Palfreeman, Frank Cetta, Donald J Hagler
BACKGROUND: Bicuspid aortic valve (BAV) occurs both as an isolated cardiac lesion and in association with congenital heart defects (CHD). Their aim was to identify the incidence and morphology of BAV in patients with coexisting CHD and compare their disease progression to patients with isolated BAV. METHODS: The Mayo Clinic echocardiography database was retrospectively analyzed to identify pediatric and young adult patients (≤22 years) who were diagnosed with BAV from 1990 to 2015...
November 28, 2016: Congenital Heart Disease
https://www.readbyqxmd.com/read/27891405/complete-heart-block-in-pregnancy-a-report-of-emergency-caesarean-section-in-a-parturient-without-pacemaker
#16
Vandana Mohapatra, Aparajita Panda, Satyanarayan Behera, Jagadish Chandra Behera
Management of women with Complete Heart Block (CHB) presenting without pacing, during pregnancy and labour is debatable. Temporary pacemakers have been routinely inserted for labour and birth probably to withstand any haemodynamic variations. However, due to lack of large scale prospective studies, the necessity of this procedure has not been objectively assessed. Also, the most appropriate anaesthetic technique for caesarean section in women with CHB is yet to be clarified. We report herein the case of a pregnant woman with CHB who had uneventful emergency caesarean delivery under spinal anaesthesia without temporary pacing...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27888756/isolated-heart-transplant-and-combined-heart-liver-transplant-in-adult-congenital-heart-disease-patients-insights-from-the-united-network-of-organ-sharing
#17
Elisa A Bradley, Krong-On Pinyoluksana, Melissa Moore-Clingenpeel, Yongjie Miao, Curt Daniels
BACKGROUND/METHODS: The aging patient with severe congenital heart disease (CHD) faces many challenges: heart failure, arrhythmia, and in the Fontan patient, liver disease. Our goal was to define combined heart liver transplant (CHLT) and isolated orthotopic heart transplant (OHT) outcomes in U.S. adult CHD patients. The U.S. United Network for Organ Sharing (UNOS) thoracic and liver databases were queried for cardiac and CHD diagnoses, from inception-2014. RESULTS: In CHLT, CHD made up 22% of waitlist patients (non-CHD n=262 vs...
November 10, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27885814/trends-microbiology-and-outcomes-of-infective-endocarditis-in-children-during-2000-2010-in-the-united-states
#18
Shipra Gupta, Ankit Sakhuja, Eric McGrath, Basim Asmar
BACKGROUND: We studied the incidence, trend, underlying conditions, microbiology, and outcomes of infective endocarditis (IE) in children during 11 years using Nationwide Inpatient Sample (NIS) database. This is the largest all-payer inpatient care database in the United States containing data for more than 8 million hospital stays from over 1000 hospitals. METHODS: NIS data from 2000 to 2010 of primary discharge diagnosis of IE in children aged ≤19 years old were studied...
November 25, 2016: Congenital Heart Disease
https://www.readbyqxmd.com/read/27881562/total-anomalous-pulmonary-venous-connection-the-current-management-strategies-in-a-pediatric-cohort-of-768-patients
#19
Guocheng Shi, Zhongqun Zhu, Jimei Chen, Yanqiu Ou, Haifa Hong, Zhiqiang Nie, Haibo Zhang, Xiaoqing Liu, Jinghao Zheng, Qi Sun, Jinfen Liu, Huiwen Chen, Jian Zhuang
BACKGROUND: -Total anomalous pulmonary venous connection (TAPVC) is a rare form of congenital heart disease. This study describes current surgical treatment strategies and experiences for a cohort of patients from two congenital cardiac centers in Shanghai and Guangdong, China. METHODS: -This retrospective study included 768 patients operated on between 2005 and 2014. While most patients (n=690) underwent conventional repair, a sutureless technique was employed in 10% (n=78) of cases...
November 15, 2016: Circulation
https://www.readbyqxmd.com/read/27879647/neuroprotective-strategies-during-cardiac-surgery-with-cardiopulmonary-bypass
#20
REVIEW
Aida Salameh, Stefan Dhein, Ingo Dähnert, Norbert Klein
Aortocoronary bypass or valve surgery usually require cardiac arrest using cardioplegic solutions. Although, in principle, in a number of cases beating heart surgery (so-called off-pump technique) is possible, aortic or valve surgery or correction of congenital heart diseases mostly require cardiopulmonary arrest. During this condition, the heart-lung machine also named cardiopulmonary bypass (CPB) has to take over the circulation. It is noteworthy that the invention of a machine bypassing the heart and lungs enabled complex cardiac operations, but possible negative effects of the CPB on other organs, especially the brain, cannot be neglected...
November 21, 2016: International Journal of Molecular Sciences
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