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https://www.readbyqxmd.com/read/27920984/staphylococcus-lugdunensis-endocarditis-with-destruction-of-the-ventricular-septum-and-multiple-native-valves
#1
Celestine Ishiekwene, Monica Ghitan, Margaret Kuhn-Basti, Edward Chapnick, Yu Shia Lin
Staphylococcus lugdunensis (S. lugdunensis) is a coagulase negative staphylococcus (CoNS) that can cause destructive infective endocarditis. S. lugdunensis, unlike other CoNS, should be considered to be a pathogen. We report the first case of S. lugdunensis endocarditis causing ventricular septal defect and destruction of the aortic and mitral valves. A 53-year-old male with morbid obesity and COPD presented with intermittent fever and progressive shortness of breath for 2 weeks. Chest examination showed bilateral basal crepitations, and a grade 2 systolic murmur along the right sternal border...
2017: IDCases
https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#2
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920458/assessing-extensive-cardiac-echography-examination-for-detecting-foetal-congenital-heart-defects-during-early-and-late-gestation-a-systematic-review-and-meta-analysis
#3
https://www.readbyqxmd.com/read/27919270/delayed-hyperbaric-oxygen-therapy-for-air-emboli-after-open-heart-surgery-case-report-and-review-of-a-success-story
#4
Eva Niyibizi, Guillaume Elyes Kembi, Claude Lae, Rodrigue Pignel, Tornike Sologashvili
BACKGROUND: The current case describes a rare diagnosis of iatrogenic air emboli after elective cardiopulmonary bypass that was successfully treated with delayed hyperbaric oxygen therapy, with good clinical evolution in spite of rare complications. CASE PRESENTATION: A 35 years old male was admitted to the intensive care unit (ICU) for post-operative management after being placed on cardiopulmonary bypass (CPB) for an elective ventricular septal defect closure and aortic valvuloplasty...
December 5, 2016: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/27916343/cardiac-autophagic-vacuolation-in-severe-x-linked-myopathy-with-excessive-autophagy
#5
Iulia Munteanu, Hannu Kalimo, Antti Saraste, Ichizo Nishino, Berge A Minassian
X-linked myopathy with excessive autophagy (XMEA), caused by mutations of the VMA21 gene, is a strictly skeletal muscle disease. Extensive studies in yeast established VMA21 as the master assembly chaperone of V-ATPase, the complex multisubunit proton pump that acidifies organelles and that is vital to all mammalian tissues. As such, skeletal muscle disease exclusivity in XMEA is highly surprising. We now show that the severest VMA21 mutation, c.164-6t>g, does result in XMEA-typical pathology with autophagic vacuolar changes outside skeletal muscle, namely in the heart...
October 19, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27914791/aberrant-developmental-titin-splicing-and-dysregulated-sarcomere-length-in-thymosin-%C3%AE-4-knockout-mice
#6
Nicola Smart, Johannes Riegler, Cameron W Turtle, Craig A Lygate, Debra J McAndrew, Katja Gehmlich, Karina N Dubé, Anthony N Price, Vivek Muthurangu, Andrew M Taylor, Mark F Lythgoe, Charles Redwood, Paul R Riley
Sarcomere assembly is a highly orchestrated and dynamic process which adapts, during perinatal development, to accommodate growth of the heart. Sarcomeric components, including titin, undergo an isoform transition to adjust ventricular filling. Many sarcomeric genes have been implicated in congenital cardiomyopathies, such that understanding developmental sarcomere transitions will inform the aetiology and treatment. We sought to determine whether Thymosin β4 (Tβ4), a peptide that regulates the availability of actin monomers for polymerization in non-muscle cells, plays a role in sarcomere assembly during cardiac morphogenesis and influences adult cardiac function...
November 30, 2016: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/27913766/myocardial-cytochrome-oxidase-activity-increases-with-age-and-hypoxemia-in-patients-with-congenital-heart-disease
#7
Michael Onwugbufor, Richard J Levy, David Zurakowski, Richard A Jonas, Pranava Sinha
BACKGROUND: Myocardial tolerance to ischemia is influenced by age and preoperative cyanosis through unknown mechanisms and significantly affects postoperative outcomes. Cytochrome c oxidase (CcOx), the terminal enzyme of the mitochondrial electron transport chain, may play a role in the susceptibility to ischemic-reperfusion (IR) injury. Our study aimed at investigating changes in human myocardial CcOx activity based on age and preoperative oxygen saturation to understand its role in transition from neonatal to mature myocardium and hypoxic conditions...
December 1, 2016: Perfusion
https://www.readbyqxmd.com/read/27912209/databases-for-congenital-heart-defect-public-health-studies-across-the-lifespan
#8
REVIEW
Tiffany J Riehle-Colarusso, Lisa Bergersen, Craig S Broberg, Cynthia H Cassell, Darryl T Gray, Scott D Grosse, Jeffrey P Jacobs, Marshall L Jacobs, Russell S Kirby, Lazaros Kochilas, Asha Krishnaswamy, Arianne Marelli, Sara K Pasquali, Thalia Wood, Matthew E Oster
No abstract text is available yet for this article.
October 26, 2016: Journal of the American Heart Association
https://www.readbyqxmd.com/read/27911332/type-0-spinal-muscular-atrophy-further%C3%A2-delineation-of-prenatal-and%C3%A2-postnatal-features-in-16-patients
#9
Sarah Grotto, Jean-Marie Cuisset, Stéphane Marret, Séverine Drunat, Patricia Faure, Séverine Audebert-Bellanger, Isabelle Desguerre, Vincent Flurin, Anne-Gaëlle Grebille, Anne-Marie Guerrot, Hubert Journel, Gilles Morin, Ghislaine Plessis, Sylvain Renolleau, Joëlle Roume, Brigitte Simon-Bouy, Renaud Touraine, Marjolaine Willems, Thierry Frébourg, Eric Verspyck, Pascale Saugier-Veber
BACKGROUND: Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2 genotype, the most severe genotype compatible with life, is expected to be associated with the most severe form of the disease, called type 0 SMA, defined by prenatal onset. OBJECTIVE: The aim of the study was to review clinical features and prenatal manifestations in this rare SMA subtype. METHODS: SMA patients with the 0SMN1/1SMN2 genotype were retrospectively collected using the UMD-SMN1 France database...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27909690/intellectual-functioning-in-children-with-congenital-heart-defects-treated-with-surgery-or-by-catheter-interventions
#10
Carmen Ryberg, Jan Sunnegårdh, Maria Thorson, Malin Broberg
BACKGROUND: Studies suggest that children with congenital heart defects (CHD) are at risk for adverse intellectual functioning. However, factors related to lower intellectual functioning in this group are largely unknown. This study describes intellectual functioning in children with CHD in relation to severity of the heart defect, the child's age, and the socioeconomic status of the family (SES). METHODS: Two hundred twenty-eight children treated with surgery or by catheter technique were tested using the Wechsler intelligence scales to determine full scale IQ (FSIQ)...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27909479/atrial-fibrillation-ablation-in-adults-with-repaired-congenital-heart-disease
#11
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/27908971/13n-ammonia-pet-ct-detection-of-myocardial-perfusion-abnormalities-in-beagle-dogs-after-local-heart-irradiation
#12
Jianbo Song, Rui Yan, Zhifang Wu, Jianguo Li, Min Yan, Xinzhong Hao, Jianzhong Liu, Sijin Li
: To determine the potential value of (13)N-ammonia positron emission tomography (PET)/computed tomography (CT) myocardial perfusion imaging (MPI) for detection of myocardial perfusion changes at early stage induced by radiation damage. METHODS: Thirty-six Beagle dogs were randomly divided into the control (n = 18) or the irradiation groups (n = 18). The irradiation group underwent local irradiation to the left ventricular anterior cardiac wall with a single dose of 20 Gy, whereas the control group received sham irradiation...
December 1, 2016: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/27908393/association-of-30-day-readmission-metric%C3%A2-for-heart-failure-under-the-hospital%C3%A2-readmissions-reduction-program%C3%A2-with-quality-of-care-and%C3%A2-outcomes
#13
Ambarish Pandey, Harsh Golwala, Haolin Xu, Adam D DeVore, Roland Matsouaka, Michael Pencina, Dharam J Kumbhani, Adrian F Hernandez, Deepak L Bhatt, Paul A Heidenreich, Clyde W Yancy, James A de Lemos, Gregg C Fonarow
OBJECTIVES: This study sought to determine whether processes of care and long-term clinical outcomes for heart failure (HF) admissions across Get With The Guidelines-Heart Failure (GWTG-HF) program participating centers differ according to HF-specific risk-adjusted 30-day readmission rates (excess readmission ratio [ERR]) as determined by the Hospital Readmission Reduction Program (HRRP). BACKGROUND: HRRP penalizes hospitals with higher than expected risk-adjusted 30-day readmission rates (ERR >1) for common conditions including HF...
December 2016: JACC. Heart Failure
https://www.readbyqxmd.com/read/27908343/a%C3%AE-amyloid-pathology-affects-the-hearts-of-patients%C3%A2-with%C3%A2-alzheimer-s-disease-mind%C3%A2-the-heart
#14
Luca Troncone, Marco Luciani, Matthew Coggins, Elissa H Wilker, Cheng-Ying Ho, Kari Elise Codispoti, Matthew P Frosch, Rakez Kayed, Federica Del Monte
BACKGROUND: Individually, heart failure (HF) and Alzheimer's disease (AD) are severe threats to population health, and their potential coexistence is an alarming prospect. In addition to sharing analogous epidemiological and genetic profiles, biochemical characteristics, and common triggers, the authors recently recognized common molecular and pathological features between the 2 conditions. Whereas cognitive impairment has been linked to HF through perfusion defects, angiopathy, and inflammation, whether patients with AD present with myocardial dysfunction, and if the 2 conditions bear a common pathogenesis as neglected siblings are unknown...
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27906972/selective-serotonin-reuptake-inhibitor-ssri-antidepressants-in-pregnancy-and-congenital-anomalies-analysis-of-linked-databases-in-wales-norway-and-funen-denmark
#15
Sue Jordan, Joan K Morris, Gareth I Davies, David Tucker, Daniel S Thayer, Johannes M Luteijn, Margery Morgan, Ester Garne, Anne V Hansen, Kari Klungsøyr, Anders Engeland, Breidge Boyle, Helen Dolk
BACKGROUND: Hypothesised associations between in utero exposure to selective serotonin reuptake inhibitors (SSRIs) and congenital anomalies, particularly congenital heart defects (CHD), remain controversial. We investigated the putative teratogenicity of SSRI prescription in the 91 days either side of first day of last menstrual period (LMP). METHODS AND FINDINGS: Three population-based EUROCAT congenital anomaly registries- Norway (2004-2010), Wales (2000-2010) and Funen, Denmark (2000-2010)-were linked to the electronic healthcare databases holding prospectively collected prescription information for all pregnancies in the timeframes available...
2016: PloS One
https://www.readbyqxmd.com/read/27906096/biological-and-functional-evaluation-of-a-novel-pyrolytic-carbon-implant-for-the-treatment-of-focal-osteochondral-defects-in-the-medial-femoral-condyle-assessment-in-a-canine-model
#16
Samantha L Salkeld, Laura P Patron, Joan C Lien, Stephen D Cook, Deryk G Jones
BACKGROUND: Osteochondral defects continue to be a clinical treatment challenge, and when left untreated, may cause pain and functional impairment. Pyrolytic carbon is a unique isotropic biomaterial used in heart valve and small joint replacements due to its excellent wear properties and biocompatibility with bone and articular cartilage. Therefore, a proposed solution is to utilize a focal pyrolytic carbon hemiarthroplasty implant as an alternative resurfacing treatment strategy for isolated cartilage lesions...
December 1, 2016: Journal of Orthopaedic Surgery and Research
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
#17
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/27905134/age-is-just-a-number-frailty-better-evaluates-age-dependent-heart-rhythm-defects
#18
Hee Cheol Cho
No abstract text is available yet for this article.
December 1, 2016: Journal of Physiology
https://www.readbyqxmd.com/read/27904846/complete-congenital-heart-block-in-a-neonate-with-a-complex-congenital-heart-defect-in-africa
#19
Clovis Nkoke, Edvine Yonta Wawo, Liliane Kuate Mfeukeu, Larissa Makamte, Sandrine Dikosso Edie, Flore Esiene Balana
Congenital heart block (CHB) is rare disorder that has a higher mortality when associated with structural congenital heart defects. Very few cases have been reported in Sub-Saharan Africa (SSA). We present a case of complete CHB associated with a complex congenital heart defect in a neonate in Cameroon. A 1-month-old neonate in Cameroon was referred for the evaluation of bradycardia. The obstetrical ultrasound done during pregnancy revealed fetal bradycardia without further evaluation. Clinical examination showed well a developed neonate with bradycardia at 62 beats/minute, and mild cyanosis with oxygen saturation at 93% at room air...
October 2016: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/27904843/cardiac-surgery-in-africa-a-thirty-five-year-experience-on-open-heart-surgery-in-cote-d-ivoire
#20
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
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