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https://www.readbyqxmd.com/read/28436679/cited2-mutations-in-conserved-regions-contribute-to-conotruncal-heart-defects-in-chinese-children
#1
Bojian Li, Tian Pu, Yang Liu, Yuejuan Xu, Rang Xu
Conotruncal heart defects (CTDs) are severe malformations of outflow tract with heterogeneous morphology. Several missense variants of CITED2 have been identified to cause CTDs in recent researches. In this study, we screened the coding regions of CITED2 in 605 Chinese children with CTDs and found two possible pathogenic mutant sites: p.Q117L and p.T257A, both located in the conserved regions of CITED2. Then, we investigated the biological and functional alterations of them. Western blotting showed low level of protein expression of mutant Q117 and T257A compared with wild-type CITED2...
April 24, 2017: DNA and Cell Biology
https://www.readbyqxmd.com/read/28436133/population-trends-in-prenatal-detection-of-transposition-of-great-arteries-impact-of-obstetrical-screening-ultrasound-guidelines
#2
Ravi Prasad, Mills Lindsay, Fruitman Deborah, Savard Winnie, Colen Timothy, Khoo Nee, Serrano-Lomelin Jesus, Hornberger Lisa K
BACKGROUND: D-transposition of the great arteries (D-TGA) is one of the most common critical neonatal heart defects. Although there are clinical advantages to a prenatal diagnosis, D-TGA has had low prenatal detection internationally. Recent obstetrical ultrasound guidelines incorporating screening of cardiac outflows may improve prenatal detection of D-TGA. We sought to evaluate trends in the prenatal detection of D-TGA with/without ventricular septal defect (VSD) in Alberta over the past 13 years, examining the potential impact of enhanced ultrasound guidelines in 2009-2010 and 2013 and factors impacting detection...
April 24, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28434863/spatiotemporally-controlled-mechanical-cues-drive-progenitor-mesenchymal-to-epithelial-transition-enabling-proper-heart-formation-and-function
#3
Timothy R Jackson, Hye Young Kim, Uma L Balakrishnan, Carsten Stuckenholz, Lance A Davidson
During early cardiogenesis, bilateral fields of mesenchymal heart progenitor cells (HPCs) move from the anterior lateral plate mesoderm to the ventral midline, undergoing a mesenchymal-to-epithelial transition (MET) en route to forming a single epithelial sheet. Through tracking of tissue-level deformations in the heart-forming region (HFR) as well as movement trajectories and traction generation of individual HPCs, we find that the onset of MET correlates with a peak in mechanical stress within the HFR and changes in HPC migratory behaviors...
April 17, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28425218/recurrence-of-congenital-heart-defects-among-siblings-a-nationwide-study
#4
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
#5
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
#6
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/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
#7
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/28422407/mutations-in-tgds-associated-with-additional-malformations-of-the-middle-fingers-and-halluces-atypical-catel-manzke-syndrome-in-a-fetus
#8
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
#9
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
#10
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
#11
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/28419229/non-invasive-assessment-of-cerebral-oxygen-metabolism-following-surgery-of-congenital-heart-disease
#12
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
https://www.readbyqxmd.com/read/28418512/a-method-for-in-vitro-tcpc-compliance-verification
#13
Mike Tree, Zhenglun Alan Wei, Brady Munz, Kevin Maher, Shriprasad Deshpande, Timothy Slesnick, Ajit Yoganathan
The Fontan procedure is a common palliative intervention for sufferers of single ventricle congenital heart defects that results in an anastomosis of the venous return to the pulmonary arteries called the total cavopulmonary connection (TCPC). Local TCPC and global Fontan circulation hemodynamics are studied with in vitro circulatory models because of hemodynamic ties to Fontan patient long-term complications. The majority of in vitro studies, to date, employ a rigid TCPC model. Recently, a few studies have incorporated flexible TCPC models, but provide no justification for the model material properties...
June 1, 2017: Journal of Biomechanical Engineering
https://www.readbyqxmd.com/read/28414679/misses-opportunity-tof-diagnoses-in-4th-decade-of-life
#14
O Baniahmad, T Jarreau, A Johnson
CASE: A 40 year old woman with a history of HIV, congestive heart failure secondary to an unknown congenital heart defect, and hypertension presented to our emergency department with worsening edema. On room air, oxygen saturation was 55 percent . On 5L of oxygen via nasal cannula, oxygen saturation was 88 percent . Physical examination was notable for central cyanosis, facial and lid edema, a II/VI holosystolic murmur across right chest radiating to entire right back hemithorax, decreased breath sounds at bases with pulmonary crackles, clubbing of fingers and edema of bilateral lower extremities...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28412737/whole-exome-sequencing-identifies-sgcd-and-acvrl1-mutations-associated-with-total-anomalous-pulmonary-venous-return-tapvr-in-chinese-population
#15
Jun Li, Shiwei Yang, Zhening Pu, Juncheng Dai, Tao Jiang, Fangzhi Du, Zhu Jiang, Yue Cheng, Genyin Dai, Jun Wang, Jirong Qi, Liming Cao, Xueying Cheng, Cong Ren, Xinli Li, Yuming Qin
As a rare type of Congenital Heart Defects (CHD), the genetic mechanism of Total Anomalous Pulmonary Venous Return (TAPVR) remains unknown, although previous studies have revealed potential disease-driving regions/genes. Blood samples collected from the 6 sporadic TAPVR cases and 81 non-TAPVR controls were subjected to whole exome sequencing. All detected variations were confirmed by direct Sanger sequencing. Here, we identified 2 non-synonymous missense mutations: c.C652T, p.R218W in activin A receptor type II-like 1 (ACVRL1), c...
February 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/28412087/pregestational-type-2-diabetes-mellitus-induces-cardiac-hypertrophy-in-the-murine-embryo-through-cardiac-remodeling-and-fibrosis
#16
Xue Lin, Penghua Yang, E Albert Reece, Peixin Yang
BACKGROUND: Cardiac hypertrophy is highly prevalent in patients with type 2 diabetes mellitus (T2DM). Experimental evidence has implied that pregnant women with T2DM and their children are at an increased risk of cardiovascular diseases. Our previous mouse model study has revealed that maternal T2DM induces structural heart defects in their offspring. OBJECTIVE: The present study aims to determine whether maternal T2DM induces embryonic heart hypertrophy in a murine model of diabetic embryopathy...
April 12, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28411047/immunodepression-after-cpb-cytokine-dynamics-and-clinics-after-pediatric-cardiac-surgery-a-prospective-trial
#17
Georgia Justus, Christoph Walker, Lisa-Maria Rosenthal, Felix Berger, Oliver Miera, Katharina Rose Luise Schmitt
BACKGROUND: Corrective surgery for congenital heart defects is known to trigger a severe immune reaction. There has been extensive research on the effects of inflammation after cardiopulmonary bypass (CPB). Interestingly, monocytes are observed to be non-responsive to stimulation with lipopolysaccharide (LPS) under these conditions, indicating a state of immunodepression, which lays the ground for second hit infections after cardiosurgery with CPB. OBJECTIVES: The aim of this prospective study was to analyze immunodepression after pediatric cardiopulmonary bypass and to differentiate the effects of monocytic anergy on postoperative outcome...
April 11, 2017: Cytokine
https://www.readbyqxmd.com/read/28410786/the-use-of-ecmo-for-gastroschisis-and-omphalocele-two-decades-of-experience
#18
Joanne E Baerg, Arul Thirumoorthi, Andrew O Hopper, Edward P Tagge
PURPOSE: The aim was to review the respiratory failure causes and outcomes of infants with omphalocele or gastroschisis receiving ECMO and reported to the Extracorporeal Life Support Organization (ELSO). METHODS: Gastroschisis and omphalocele infants supported with ECMO and reported to the ELSO Registry between 1992 and 2015 were retrospectively reviewed. Clinical variables, diagnosis of respiratory failure (pulmonary hypertension (PHN), congenital heart defects (CHD), congenital diaphragmatic hernia (CDH), and sepsis), and outcomes were recorded...
March 16, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28406175/nkx2-5-and-sarcospan-genetically-interact-in-the-development-of-the-muscular-ventricular-septum-of-the-heart
#19
Adam A Panzer, Suk D Regmi, DePorres Cormier, Megan T Danzo, Iuan-Bor D Chen, Julia B Winston, Alayna K Hutchinson, Diana Salm, Claire E Schulkey, Rebecca S Cochran, David B Wilson, Patrick Y Jay
The muscular ventricular septum separates the flow of oxygenated and de-oxygenated blood in air-breathing vertebrates. Defects within it, termed muscular ventricular septal defects (VSDs), are common, yet less is known about how they arise than rarer heart defects. Mutations of the cardiac transcription factor NKX2-5 cause cardiac malformations, including muscular VSDs. We describe here a genetic interaction between Nkx2-5 and Sarcospan (Sspn) that affects the risk of muscular VSD in mice. Sspn encodes a protein in the dystrophin-glycoprotein complex...
April 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28398667/costs-mortality-and-hospital-usage-in-relation-to-prenatal-diagnosis-in-d-transposition-of-the-great-arteries
#20
Nelangi M Pinto, Richard Nelson, Lorenzo Botto, Michael D Puchalski, Sergey Krikov, Jaewhan Kim, Norman J Waitzman
BACKGROUND: The impact of prenatal diagnosis of d-transposition of the great arteries (dTGA) on health-care usage is largely unknown. We evaluated a population-based cohort to assess costs, mortality and inpatient encounters by whether dTGA was prenatally diagnosed or not. METHODS: The dTGA cases (born 1997-2011) identified at the Utah Birth Defect Network, which includes data on timing of diagnosis, were linked to statewide inpatient discharge data. We excluded preterm cases or cases with additional major heart defects...
March 1, 2017: Birth Defects Res
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