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https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#1
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
#2
https://www.readbyqxmd.com/read/27913766/myocardial-cytochrome-oxidase-activity-increases-with-age-and-hypoxemia-in-patients-with-congenital-heart-disease
#3
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
#4
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
#5
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
#6
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/27906972/selective-serotonin-reuptake-inhibitor-ssri-antidepressants-in-pregnancy-and-congenital-anomalies-analysis-of-linked-databases-in-wales-norway-and-funen-denmark
#7
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/27906085/tissue-engineered-cardiac-patch-seeded-with-human-induced-pluripotent-stem-cell-derived-cardiomyocytes-promoted-the-regeneration-of-host-cardiomyocytes-in-a-rat-model
#8
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/27904846/complete-congenital-heart-block-in-a-neonate-with-a-complex-congenital-heart-defect-in-africa
#9
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/27904570/existence-of-mutations-in-the-homeodomain-encoding-region-of-nkx2-5-gene-in-iranian-patients-with-tetralogy-of-fallot
#10
Majid Kheirollahi, Fereshteh Khosravi, Saeideh Ashouri, Alireza Ahmadi
BACKGROUND: Tetralogy of Fallot (TOF), the most common cyanotic heart defect and one of the most common congenital heart diseases, occurs mostly sporadically and nonsyndromically. The underlying molecular genetic mechanism is not known. Therefore, the existence of mutations in the homeodomain-encoding region of NKX2.5 gene in Iranian patients with tetralogy of Fallot is evaluated. MATERIALS AND METHODS: In the present study, we analyzed the peripheral blood samples of27 patients in order to find any mutation in the 180 bp homeodomain-encoding region of NKX2...
2016: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/27899284/defective-lymphatic-valve-development-and-chylothorax-in-mice-with-a-lymphatic-specific-deletion-of-connexin43
#11
Stephanie J Munger, Michael J Davis, Alexander M Simon
Lymphatic valves (LVs) are cusped luminal structures that permit the movement of lymph in only one direction and are therefore critical for proper lymphatic vessel function. Congenital valve aplasia or agenesis can, in some cases, be a direct cause of lymphatic disease. Knowledge about the molecular mechanisms operating during the development and maintenance of LVs may thus aid in the establishment of novel therapeutic approaches to treat lymphatic disorders. In this study, we examined the role of Connexin43 (Cx43), a gap junction protein expressed in lymphatic endothelial cells (LECs), during valve development...
November 27, 2016: Developmental Biology
https://www.readbyqxmd.com/read/27896260/a-case-of-prenatally-diagnosed-extrapulmonary-arteriovenous-malformation-associated-with-a-complex-heart-defect
#12
Ba-Da Jeong, Hye-Sung Won, Suah An, Ji Yeon Kim, Mi-Young Lee, Eun Na Kim, Jung-Sun Kim, Chong Jai Kim
Pulmonary arteriovenous malformations are rare vascular anomalies of the lung, only a few cases of which have been diagnosed prenatally. The diagnostic clue for prenatal diagnosis was cardiomegaly with a particularly enlarged left atrium. All previous cases of pulmonary arteriovenous malformations diagnosed prenatally have been reported as an isolated anomaly or in association with simple heart defects. We here describe the first case of a pulmonary arteriovenous malformation with a complex heart defect that was diagnosed prenatally at 21...
November 2016: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/27895974/genetic-screening-in-patients-with-craniofacial-malformations
#13
REVIEW
Amanda J Yoon, Binh N Pham, Katrina M Dipple
Craniofacial malformations include a variety of anomalies, including cleft lip with or without cleft palate, craniosynostosis, microtia, and hemifacial microsomia. All of these anomalies can be either isolated or part of a defined genetic syndrome. A clinical geneticist or genetic counselor should be a member of the craniofacial team to help determine which patients have isolated anomalies and which are likely to have a syndrome. They would then arrange for the appropriate genetic testing to confirm the diagnosis of the specific syndrome...
December 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27894567/proportion-of-selected-congenital-heart-defects-attributable-to-recognized-risk-factors
#14
Regina M Simeone, Sarah C Tinker, Suzanne M Gilboa, A J Agopian, Matthew E Oster, Owen J Devine, Margaret A Honein
PURPOSE: To assess the contribution of multiple risk factors for two congenital heart defects-hypoplastic left heart syndrome (HLHS) and tetralogy of Fallot (TOF). METHODS: We used data from the National Birth Defects Prevention Study (1997-2011) to estimate average adjusted population attributable fractions for several recognized risk factors, including maternal prepregnancy overweight-obesity, pregestational diabetes, age, and infant sex. RESULTS: There were 594 cases of isolated simple HLHS, 971 cases of isolated simple TOF, and 11,829 controls in the analysis...
December 2016: Annals of Epidemiology
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/27892791/cardiovascular-profile-score-as-a-predictor-of-acute-intrapartum-non-reassuring-fetal-status-in-infants-with-congenital-heart-defects
#16
Takekazu Miyoshi, Shinji Katsuragi, Reiko Neki, Ken-Ichi Kurosaki, Isao Shiraishi, Michikazu Nakai, Kunihiro Nishimura, Jun Yoshimatsu, Tomoaki Ikeda
OBJECTIVES: To investigate the predictive factors of urgent cesarean delivery (CD) due to acute intrapartum non-reassuring fetal status (NRFS) in infants with congenital heart defects (CHDs). STUDY DESIGN: This was a retrospective review of 199 singletons prenatally diagnosed with a CHD and for whom vaginal delivery was attempted in our institution between 2007 and 2014. A cardiovascular profile (CVP) score was used to assess fetal heart failure. RESULTS: The number of urgent CDs due to NRFS was 37 (18...
November 28, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27885814/trends-microbiology-and-outcomes-of-infective-endocarditis-in-children-during-2000-2010-in-the-united-states
#17
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/27884409/percutaneous-perventricular-device-closure-of-ventricular-septal-defect-from-incision-to-pinhole
#18
Changping Gan, Ling Peng, Zhonglei Liang, Haibo Song, Jiahuang Yang, Weiqiang Ruan, Shuhua Luo, Ke Lin
BACKGROUND: As an alternative to open surgical repair, perventricular device closure provides minimally invasive treatment for doubly committed subarterial ventricular septal defects. However, unlike percutaneous transcatheter access, mini-thoracotomy is still needed. This report describes the percutaneous perventricular device closure technique and its short-term results for this type of heart defect. METHODS: Sixteen patients who had isolated doubly committed subarterial ventricular septal defects underwent percutaneous perventricular device closure...
November 21, 2016: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/27882249/surviving-all-odds-a-unique-case-of-multiple-congenital-unruptured-sinus-of-valsalva-aneurysms-involving-both-left-and-right-coronary-sinuses-with-biventricular-dysfunction-and-heart-block
#19
Aniketh Vijay B, Vikrant Vijan, Navin Mathew
Aneurysms of the sinus of Valsalva are very uncommon, with an incidence ranging from 0.1 to 3.5% of all congenital heart defects. Very few cases have been reported in the literature that presented with involvement of two or more sinuses. We report a case of 27-year-old male with a history of exertional breathlessness of one-month duration. After complete evaluation using transesophageal echocardiography (TEE) and multiple detector computed tomography (MDCT) scanning, the patient was diagnosed to have large congenital unruptured sinus of Valsalva aneurysms involving both left and right coronary sinuses with extension into the interventricular septum...
2016: Case Reports in Cardiology
https://www.readbyqxmd.com/read/27881810/an-unusual-case-of-raghib-defect-and-double-orifice-tricuspid-valve
#20
Alexander C Egbe, Sameh M Said, Christopher J McLeod, David W Barbara, Heidi M Connolly
Raghib defect and double-orifice tricuspid valve are two rare congenital heart defects. We report a case of a 42-year-old man with both Raghib defect and DOTV. The patient underwent reroofing of the coronary sinus with an intra-atrial baffle and annuloplasty of the tricuspid and mitral valves via median sternotomy.
November 23, 2016: World Journal for Pediatric & Congenital Heart Surgery
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