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https://www.readbyqxmd.com/read/28432755/mitochondria-and-ageing-role-in-heart-skeletal-muscle-and-adipose-tissue
#1
REVIEW
Kerstin Boengler, Maik Kosiol, Manuel Mayr, Rainer Schulz, Susanne Rohrbach
Age is the most important risk factor for most diseases. Mitochondria play a central role in bioenergetics and metabolism. In addition, several lines of evidence indicate the impact of mitochondria in lifespan determination and ageing. The best-known hypothesis to explain ageing is the free radical theory, which proposes that cells, organs, and organisms age because they accumulate reactive oxygen species (ROS) damage over time. Mitochondria play a central role as the principle source of intracellular ROS, which are mainly formed at the level of complex I and III of the respiratory chain...
April 21, 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/28432673/prognostic-value-of-left-ventricular-dyssynchrony-evaluated-by-gated-myocardial-perfusion-imaging-in-patients-with-chronic-kidney-disease-and-normal-perfusion-defect-scores
#2
Hiroaki Mori, Satoshi Isobe, Susumu Suzuki, Kazumasa Unno, Ryota Morimoto, Naoaki Kano, Takahiro Okumura, Yoshinari Yasuda, Katsuhiko Kato, Toyoaki Murohara
BACKGROUND: This study aimed to investigate whether indices of left ventricular (LV) dyssynchrony by gated myocardial perfusion SPECT (GMPS) could be useful to predict prognosis in chronic kidney disease (CKD) patients with normal perfusion defect scores. METHODS: One hundred and sixty-seven CKD patients with normal perfusion defect scores on adenosine-stress (201)Tl GMPS and no previous history of overt heart diseases were enrolled. Phase standard deviation (PSD) and bandwidth (BW) were automatically calculated from GMPS...
April 21, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28431062/impact-of-basal-inferolateral-scar-burden-determined-by-automatic-analysis-of-99mtc-mibi-myocardial-perfusion-spect-on-the-long-term-prognosis-of-cardiac-resynchronization-therapy
#3
Itsuro Morishima, Kenji Okumura, Hideyuki Tsuboi, Yasuhiro Morita, Kensuke Takagi, Ruka Yoshida, Hiroaki Nagai, Toshiro Tomomatsu, Yoshihiro Ikai, Kazushi Terada, Takahito Sone, Toyoaki Murohara
Aims: Left-ventricular (LV) scarring may be associated with a poor response to cardiac resynchronization therapy (CRT). The automatic analysis of myocardial perfusion single-photon emission computed tomography (MP-SPECT) may provide objective quantification of LV scarring. We investigated the impact of LV scarring determined by an automatic analysis of MP-SPECT on short-term LV volume response as well as long-term outcome. Methods and Results: We studied consecutive 51 patients who were eligible to undergo 99mTc-MIBI MP-SPECT both at baseline and 6 months after CRT (ischaemic cardiomyopathies 31%)...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28427867/outcomes-from-anomalous-origin-of-the-left-coronary-artery-from-the-pulmonary-artery-repair-long-term-complications-in-relation-to-residual-myocardial-abnormalities
#4
Miki Kanoh, Kei Inai, Tokuko Shinohara, Hirofumi Tomimatsu, Toshio Nakanishi
BACKGROUND: Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital coronary artery irregularity. This study aimed to clarify the long-term postoperative outcomes in ALCAPA patients, and to compare the infantile and adult types. METHODS: We retrospectively analyzed the clinical data from 33 patients with ALCAPA who underwent surgical repairs after 1980. The patients were grouped based on whether presentation occurred before (infantile type: n=14) or after (adult type: n=19) 1 year of age...
April 17, 2017: Journal of Cardiology
https://www.readbyqxmd.com/read/28427801/-multimodality-imaging-in-the-cardiac-catheterization-laboratory
#5
Karine Warin-Fresse, Sébastien Hascoet, Patrice Guérin
Cardiac catheterization has greatly contributed to the progress made in the management of congenital heart diseases (CHD). Initially used in diagnosis, it allowed the understanding of heart diseases, their anatomy and hemodynamics. Gradually, the development of interventional cardiology has played a major role in the management of these malformations (Patent ductus arteriosus [PDA] and atrial septal defect [ASD] closure, pulmonary dilatation, percutaneous pulmonary valve implantation…). The development of such technology was made possible through the concomitant development of imaging techniques: fluoroscopy, ultrasound, MRI and CT...
April 17, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28426680/echocardiographic-findings-in-infants-with-presumed-congenital-zika-syndrome-retrospective-case-series-study
#6
Danielle Di Cavalcanti, Lucas V Alves, Geraldo J Furtado, Cleusa C Santos, Fabiana G Feitosa, Maria C Ribeiro, Paulo Menge, Izabelle M Lira, Joao G Alves
OBJECTIVE: To report the echocardiographic evaluation of 103 infants with presumed congenital Zika syndrome. METHODS: An observational retrospective study was performed at Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil. 103 infants with presumed congenital Zika syndrome. All infants had microcephaly and head computed tomography findings compatible with congenital Zika syndrome. Zika IgM antibody was detected in cerebrospinal fluid samples of 23 infants...
2017: PloS One
https://www.readbyqxmd.com/read/28425218/recurrence-of-congenital-heart-defects-among-siblings-a-nationwide-study
#7
Kristoffer Brodwall, Gottfried Greve, Elisabeth Leirgul, Grethe S Tell, Stein E Vollset, Nina Øyen
Congenital heart defects (CHD) constitute the largest group of congenital malformations. In most families, only one person has CHD; however, the risk of CHD increases for children born into families already affected. In this study, all births from 1994 through 2009 were identified in the Medical Birth Registry of Norway, including supplemental information on CHD from clinical and administrative registers, as part of the CVDNOR project. By using the unique personal identification number of each parent we were able to link 16,078 pairs of twins, 445,584 pairs of full siblings, and 106,840 pairs of half-siblings...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28424445/management-of-tachyarrhythmia-during-pregnancy
#8
Emily Ann Enderlin, Khaldia Taufiq Khaled, Luke Oke, Mohammed Madmani, Hakan Paydak
Maternal tachyarrhythmia is a common complication during pregnancy due to hormonal changes that enhance pre-existing arrhythmias or induce new arrhythmias in the presence of congenital heart defects in pregnant females. Presence of tachyarrhythmia during pregnancy poses risk to the mother and fetus, calling for proper treatment with medications. Use of antiarrhythmic drugs in cases of maternal tachyarrhythmia must give due consideration of potential teratogenic side effects. Utilization of antiarrhythmic drugs during pregnancy has been well studied; some result in minimal fetal harm or none at all...
March 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28424221/association-between-fetal-congenital-heart-defects-and-maternal-risk-of-hypertensive-disorders-of-pregnancy-in-the-same-pregnancy-and-across-pregnancies
#9
Heather A Boyd, Saima Basit, Ida Behrens, Elisabeth Leirgul, Henning Bundgaard, Jan Wohlfahrt, Mads Melbye, Nina Øyen
Background -Pregnant women carrying fetuses with heart defects and women with hypertensive disorders of pregnancy both often exhibit angiogenic imbalances, suggesting that the same mechanisms are involved in the etiology of the former and the pathophysiology of the latter. We conducted a register-based cohort study to determine whether offspring congenital heart defects are associated with an increased risk of hypertensive disorders of pregnancy, and whether the mechanisms driving any association are primarily maternal or fetal...
April 19, 2017: Circulation
https://www.readbyqxmd.com/read/28423128/peratrial-device-closure-of-atrial-septal-defect-under-transesophageal-echocardiographic-guidance-without-fluoroscopy-compared-to-conventional-on-pump-surgical-closure
#10
Zhixiang Guo, Chengxin Zhang, Huan Wang, Shenglin Ge
Objective: This study is designed to evaluate the advantages between peratrial device closure under transesophageal echocardiographic guidance and open heart surgery in atrial septal defect. Methods: From November 2011 to September 2014, 28 patients with atrial septal defect were treated. Fourteen patients received peratrial device closure under transesophageal echocardiographic guidance (TEE group) and 14 patients received cardiopulmonary bypass (CPB group). Clinical parameters during intraoperative and postoperative periods were examined...
January 2017: Brazilian Journal of Cardiovascular Surgery
https://www.readbyqxmd.com/read/28422838/opposite-chromosome-constitutions-due-to-a-familial-translocation-t-1-21-q43-q22-in-2-cousins-with-development-delay-and-congenital-anomalies-a-case-report
#11
Beata Aleksiūnienė, Rugilė Matulevičiūtė, Aušra Matulevičienė, Birutė Burnytė, Natalija Krasovskaja, Laima Ambrozaitytė, Violeta Mikštienė, Vaidas Dirsė, Algirdas Utkus, Vaidutis Kučinskas
RATIONALE: Chromosomal rearrangements are the major cause of multiple congenital abnormalities and intellectual disability. PATIENT CONCERNS AND DIAGNOSIS: We report 2 first cousins with unbalanced chromosomal aberrations of chromosomes 1 and 21, resulting from balanced familial translocation. Chromosome microarray analysis revealed 8.5 Mb1q43q44 duplication/21q22.2q22.3 deletion and 6.8 Mb 1q43q44 deletion/21q22.2q22.3 duplication. Among other features, cognitive and motor development delay and craniofacial anomalies are present in both patients, whereas congenital heart defect and hearing impairment is only present in patient carrying 1q43q44 duplication/21q22...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28422830/management-of-the-extensive-thoracic-defects-after-deep-sternal-wound-infection-with-the-rectus-abdominis-myocutaneous-flap-a-retrospective-case-series
#12
Yue-Hua Li, Zhao Zheng, Jiaomei Yang, Lin-Lin Su, Yang Liu, Fu Han, Jia-Qi Liu, Da-Hai Hu
Deep sternal wound infection is a severe complication after open heart surgery. According to the different severity and dimensions of the deep sternal wound infection, the treatment method is different. In this study, we aimed to describe our experience with the rectus abdominis myocutaneous flap for large sternal wound management, especially when 1 or 2 internal mammary arteries were absent.Between October 2010 and January 2016, a retrospective review of 9 patients who suffered from the extensive thoracic defects after deep sternal wound infection was conducted...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28422407/mutations-in-tgds-associated-with-additional-malformations-of-the-middle-fingers-and-halluces-atypical-catel-manzke-syndrome-in-a-fetus
#13
Katharina Schoner, Rainer Bald, Denise Horn, Helga Rehder, Uwe Kornak, Nadja Ehmke
Pierre-Robin sequence, radial deviation, and ulnar clinodactyly of the index fingers due to an additional phalangeal bone, as well as heart defects are the key features of Catel-Manzke syndrome. Although mutations in TGDS were identified as the cause of this disorder, the pathogenetic mechanism remains unknown. Here, we report on a fetus with severe heart defect, nuchal edema, talipes, Pierre-Robin sequence, and bilateral deviation and clinodactyly of the index and middle fingers. Pregnancy was terminated at the 22nd week of gestation...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28422173/critical-involvement-of-zeb2-in-collagen-fibrillogenesis-the-molecular-similarity-between-mowat-wilson-syndrome-and-ehlers-danlos-syndrome
#14
Mika Teraishi, Mikiro Takaishi, Kimiko Nakajima, Mitsunori Ikeda, Yujiro Higashi, Shinji Shimoda, Yoshinobu Asada, Atsushi Hijikata, Osamu Ohara, Yoko Hiraki, Seiji Mizuno, Toshiyuki Fukada, Takahisa Furukawa, Nobuaki Wakamatsu, Shigetoshi Sano
Mowat-Wilson syndrome (MOWS) is a congenital disease caused by de novo heterozygous loss of function mutations or deletions of the ZEB2 gene. MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, microcephaly, congenital heart defects and Hirschsprung disease. However, the skin manifestation(s) of patients with MOWS has not been documented in detail. Here, we recognized that MOWS patients exhibit many Ehlers-Danlos syndrome (EDS)-like symptoms, such as skin hyperextensibility, atrophic scars and joint hypermobility...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28422132/haploinsufficiency-for-ankrd11-flanking-genes-makes-the-difference-between-kbg-and-16q24-3-microdeletion-syndromes-12-new-cases
#15
Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi
16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28421700/growth-characteristics-and-endocrine-abnormalities-in-22q11-2-deletion-syndrome
#16
Yael Levy-Shraga, Doron Gothelf, Zohar Goichberg, Uriel Katz, Raz Somech, Orit Pinhas-Hamiel, Dalit Modan-Moses
22q11.2 deletion syndrome (22q11.2DS) has a wide range of clinical features including endocrine abnormalities. We aimed to characterize growth patterns, hypoparathyroidism, and thyroid dysfunction of individuals with 22q11.2DS. Anthropometric and laboratory measurements were obtained from the charts of 48 individuals (males=28, 8.0±6.8 visits/participant) followed at a national 22q11.2DS clinic between 2009 and 2016. Age at diagnosis was 4.3±4.9 years and age at last evaluation 11.2±7.2 years. Median height-SDS was negative at all ages...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28421204/diabetic-cardiomyopathy-current-approach-and-potential-diagnostic-and-therapeutic-targets
#17
REVIEW
Georgiana-Emmanuela Gilca, Gabriela Stefanescu, Oana Badulescu, Daniela-Maria Tanase, Iris Bararu, Manuela Ciocoiu
Although ischemic heart disease is the major cause of death in diabetic patients, diabetic cardiomyopathy (DCM) is increasingly recognized as a clinically relevant entity. Considering that it comprises a variety of mechanisms and effects on cardiac function, increasing the risk of heart failure and worsening the prognosis of this patient category, DCM represents an important complication of diabetes mellitus, with a silent development in its earlier stages, involving intricate pathophysiological mechanisms, including oxidative stress, defective calcium handling, altered mitochondrial function, remodeling of the extracellular matrix, and consequent deficient cardiomyocyte contractility...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/28420337/right-aortic-arch-analysis-anatomical-variant-or-serious-vascular-defect
#18
Agata Arazińska, Michał Polguj, Konrad Szymczyk, Magdalena Kaczmarska, Łukasz Trębiński, Ludomir Stefańczyk
BACKGROUND: The right-sided aortic arch (RAA) is a rare congenital defect of the aorta. The aim of the study was to assess the occurrence of RAA in diagnoses performed by the University Radiology Department and analyze the frequency of concomitant vascular abnormalities. METHODS: The database of the Radiology Department was retrospectively analyzed between January 2008 and May 2016 with the keyword "right aortic arch". Twenty patients with this diagnosis were identified from a total of 11,690 CT examinations of the chest area, 19,623 CT examinations of brain-supplying vessels, and 1863 MRI examinations of the heart and aortic arch or brain-supplying arteries...
April 19, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28419739/cardiac-troponin-t-and-fast-skeletal-muscle-denervation-in-ageing
#19
Zherong Xu, Xin Feng, Juan Dong, Zhong-Min Wang, Jingyun Lee, Cristina Furdui, Daniel Clark Files, Kristen M Beavers, Stephen Kritchevsky, Carolanne Milligan, Jian-Ping Jin, Osvaldo Delbono, Tan Zhang
BACKGROUND: Ageing skeletal muscle undergoes chronic denervation, and the neuromuscular junction (NMJ), the key structure that connects motor neuron nerves with muscle cells, shows increased defects with ageing. Previous studies in various species have shown that with ageing, type II fast-twitch skeletal muscle fibres show more atrophy and NMJ deterioration than type I slow-twitch fibres. However, how this process is regulated is largely unknown. A better understanding of the mechanisms regulating skeletal muscle fibre-type specific denervation at the NMJ could be critical to identifying novel treatments for sarcopenia...
April 16, 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/28419229/non-invasive-assessment-of-cerebral-oxygen-metabolism-following-surgery-of-congenital-heart-disease
#20
Felix Neunhoeffer, Katharina Sandner, Milena Wiest, Christoph Haller, Hanna Renk, Matthias Kumpf, Christian Schlensak, Michael Hofbeck
OBJECTIVES: Cerebral protection is a major issue in the treatment of infants with complex congenital heart disease. We tested a new device combining tissue spectrometry and laser Doppler flowmetry for non-invasive determination of cerebral oxygen metabolism following cardiac surgery in infants. METHODS: We prospectively measured regional cerebral oxygen saturation cSO 2 and microperfusion (rcFlow) in 43 infants 12-24 h following corrective ( n  = 30) or palliative surgery ( n  = 13) of congenital heart defects...
April 16, 2017: Interactive Cardiovascular and Thoracic Surgery
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