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https://www.readbyqxmd.com/read/28350720/pulmonary-embolism-mimicking-infectious-pleuritis
#1
Kenichi Tetsuhara, Satoshi Tsuji, Satoko Uematsu, Koichi Kamei
The diagnosis of pulmonary thromboembolism (PE) is often delayed because it is usually misdiagnosed as pneumonia or deep vein thrombosis. We report an unusual case of PE misdiagnosed as viral pleuritis on the first arrival at the emergency department (ED) in our hospital. A 14-year-old girl with no previous significant medical history was referred to the ED with pleuritic and chest pain with low-grade fever 4 days before admission.Echography showed a small amount of left pleural effusion. A 12-lead electrocardiogram was normal...
March 27, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28346832/tcf21-rs12190287-polymorphisms-are-associated-with-ventricular-septal-defects-in-a-chinese-population
#2
Liping Yang, Xiaobo Gao, Haiyan Luo, Qiuyu Huang, Dongmei Su, Xinyu Tan, Cailing Lu
AIMS: TCF21 knockout mice display cardiac defects, including ventricular septal defects (VSDs). Functional rs12190287 polymorphisms located within the 3' untranslated region (3'-UTR) of TCF21 were associated with a risk of coronary heart disease in the European and Eastern populations. However, whether rs12190287 polymorphisms in the TCF21-3'UTR confer predisposition to congenital heart disease (CHD) is unclear. METHODS: A case-control study was designed consisting of 781 nonsyndromic VSD patients and 867 non-CHD control subjects...
March 27, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28346476/reduced-dosage-of-%C3%AE-catenin-provides-significant-rescue-of-cardiac-outflow-tract-anomalies-in-a-tbx1-conditional-null-mouse-model-of-22q11-2-deletion-syndrome
#3
Silvia E Racedo, Erica Hasten, Mingyan Lin, Gnanapackiam Sheela Devakanmalai, Tingwei Guo, Ertugrul M Ozbudak, Chen-Leng Cai, Deyou Zheng, Bernice E Morrow
The 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome; DiGeorge syndrome) is a congenital anomaly disorder in which haploinsufficiency of TBX1, encoding a T-box transcription factor, is the major candidate for cardiac outflow tract (OFT) malformations. Inactivation of Tbx1 in the anterior heart field (AHF) mesoderm in the mouse results in premature expression of pro-differentiation genes and a persistent truncus arteriosus (PTA) in which septation does not form between the aorta and pulmonary trunk...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28344955/association-of-citalopram-with-congenital-anomalies-a-meta-analysis
#4
Hyun-Hye Kang, Ki Hoon Ahn, Soon-Cheol Hong, Bo Yong Kwon, Eun Hee Lee, Ji-Sung Lee, Min-Jeong Oh, Hai-Joong Kim
OBJECTIVE: The antenatal use of citalopram, a widely prescribed selective serotonin reuptake inhibitor, has been suspected to be associated with congenital, particularly cardiac, anomalies. This study aimed to prove the association between citalopram use and congenital anomalies. METHODS: We searched the English literature from July 1998 to July 2015, by using the search terms ' citalopram', ' pregnancy', ' birth defects', ' congenital anomalies', and ' malformations' in PubMed, Embase, Web of Science, and the Cochrane Library...
March 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28344916/pentalogy-of-cantrell-is-echocardiography-sufficient-in-the-neonatal-period
#5
Elke Zani-Ruttenstock, Augusto Zani, Osami Honjo, Priscilla Chiu
Pentalogy of Cantrell is a rare syndrome that is characterized by varying degrees of midline wall defects and congenital cardiac anomalies. A left ventricular diverticulum (LVD) is defined as partial ectopia cordis, can be part of the pentalogy of Cantrell, and can put the patient at risk of severe complications. Early diagnosis and ligation/resection of the LVD is important to prevent complications. We report on a case of pentalogy of Cantrell, in which a LVD was diagnosed only at 2 months of age despite preceding pre- and postnatal echocardiography...
January 2017: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/28344652/molecular-cytogenetic-characterisation-of-a-novel-de-novo-ring-chromosome-6-involving-a-terminal-6p-deletion-and-terminal-6q-duplication-in-the-different-arms-of-the-same-chromosome
#6
Nikolai Paul Pace, Frideriki Maggouta, Melissa Twigden, Isabella Borg
BACKGROUND: Ring chromosome 6 is a rare sporadic chromosomal abnormality, associated with extreme variability in clinical phenotypes. Most ring chromosomes are known to have deletions on one or both chromosomal arms. Here, we report an atypical and unique ring chromosome 6 involving both a distal deletion and a distal duplication on the different arms of the same chromosome. CASE PRESENTATION: In a patient with intellectual disability, short stature, microcephaly, facial dysmorphology, congenital heart defects and renovascular disease, a ring chromosome 6 was characterised using array-CGH and dual-colour FISH...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28344083/cholesterol-modification-of-smoothened-is-required-for-hedgehog-signaling
#7
Xu Xiao, Jing-Jie Tang, Chao Peng, Yan Wang, Lin Fu, Zhi-Ping Qiu, Yue Xiong, Lian-Fang Yang, Hai-Wei Cui, Xiao-Long He, Lei Yin, Wei Qi, Catherine C L Wong, Yun Zhao, Bo-Liang Li, Wen-Wei Qiu, Bao-Liang Song
Hedgehog (Hh) has been known as the only cholesterol-modified morphogen playing pivotal roles in development and tumorigenesis. A major unsolved question is how Hh signaling regulates the activity of Smoothened (SMO). Here, we performed an unbiased biochemical screen and identified that SMO was covalently modified by cholesterol on the Asp95 (D95) residue through an ester bond. This modification was inhibited by Patched-1 (Ptch1) but enhanced by Hh. The SMO(D95N) mutation, which could not be cholesterol modified, was refractory to Hh-stimulated ciliary localization and failed to activate downstream signaling...
March 15, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28343906/comparative-analysis-of-iterative-reconstruction-algorithms-with-resolution-recovery-and-new-solid-state-cameras-dedicated-to-myocardial-perfusion-imaging
#8
Marco Brambilla, Michela Lecchi, Roberta Matheoud, Lucia Leva, Giovanni Lucignani, Claudio Marcassa, Orazio Zoccarato
New technologies are available in myocardial perfusion imaging. They include new software that recovers image resolution and limits image noise, multifocal collimators and dedicated cardiac cameras in which solid-state detectors are used and all available detectors are constrained to imaging just the cardiac field of view. These innovations resulted in shortened study times or reduced administered activity to patients, while preserving image quality. Many single center and some multicenter studies have been published during the introduction of these innovations in the clinical practice...
March 23, 2017: Physica Medica: PM
https://www.readbyqxmd.com/read/28342806/molecular-regulation-of-mitochondrial-dynamics-in-cardiac-disease
#9
REVIEW
Jinliang Nan, Wei Zhu, M S Rahman, Mingfei Liu, Dan Li, Shengan Su, Na Zhang, Xinyang Hu, Hong Yu, Mahesh P Gupta, Jian''an Wang
Mitochondrial homeostasis is critical for keeping functional heart in response to metabolic or environmental stresses. Mitochondrial fission and fusion (mitochondrial dynamics) play essential roles in maintaining mitochondrial homeostasis, defects in mitochondrial dynamics lead to cardiac diseases such as ischemia-reperfusion injury (IRI), heart failure and diabetic cardiomyopathy. Mitochondrial dynamics is determined by mitochondrial fission and fusion proteins, including OPA1, mitofusins and Drp1. These proteins are tightly regulated by a series of signaling pathways through different aspects such as transcription, post translation modifications (PTMs) and proteasome-dependent protein degradation...
March 22, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28340150/severe-conduction-defects-requiring-permanent-pacemaker-implantation-in-patients-with-a-new-onset-left-bundle-branch-block-after-transcatheter-aortic-valve-implantation
#10
V J Nijenhuis, V F Van Dijk, S M Chaldoupi, J C Balt, J M Ten Berg
Aims: Transcatheter aortic valve implantation (TAVI) is frequently associated with cardiac conduction defects (CCD) requiring permanent pacemaker implantation (PPI). Although new-onset left bundle branch block (LBBB) is often seen, the rate of progression to severe CCD is unclear. We aimed to find clinical and electrocardiographic (ECG) parameters associated with severe CCD requiring PPI in patients with a new-onset LBBB after TAVI and assess its effect on clinical outcome. Methods and results: All consecutive patients undergoing TAVI who developed a new-onset LBBB were retrospectively analysed...
March 17, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28338606/dystrophic-cardiomyopathy-potential-role-of-calcium-in-pathogenesis-treatment-and-novel-therapies
#11
REVIEW
Victoria P A Johnstone, Helena M Viola, Livia C Hool
Duchenne muscular dystrophy (DMD) is caused by defects in the DMD gene and results in progressive wasting of skeletal and cardiac muscle due to an absence of functional dystrophin. Cardiomyopathy is prominent in DMD patients, and contributes significantly to mortality. This is particularly true following respiratory interventions that reduce death rate and increase ambulation and consequently cardiac load. Cardiomyopathy shows an increasing prevalence with age and disease progression, and over 95% of patients exhibit dilated cardiomyopathy by the time they reach adulthood...
March 24, 2017: Genes
https://www.readbyqxmd.com/read/28337834/retinal-dystrophy-in-two-boys-with-costello-syndrome-due-to-the-hras-p-gly13cys-mutation
#12
Mary Ella Pierpont, Mary Richards, W Keith Engel, Nancy J Mendelsohn, C Gail Summers
Features of Costello Syndrome, a systemic disorder caused by germline mutations in the proto-oncogene HRAS from the RAS/MAPK pathway, include failure-to-thrive, short stature, coarse facial features, cardiac defects including hypertrophic cardiomyopathy, intellectual disability, and predisposition to neoplasia. Two unrelated boys with Costello syndrome and an HRAS mutation (p.Gly13Cys) are presented with their ophthalmologic findings. Both had early symptoms of nystagmus, photophobia, and vision abnormalities...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28337273/t-box-family-of-transcription-factor-tbx5-insights-in-development-and-disease
#13
Ting Zhu, Longwei Qiao, Qian Wang, Rui Mi, Jinnan Chen, Yaojuan Lu, Junxia Gu, Qiping Zheng
The T-box gene family refers to a group of transcription factors that share a highly conserved, sequence-specific DNA-binding domain (T-box) containing around 180-amino acids. According to HUGO gene nomenclature committee (HGNC), there are 18 T-box family members. These T-box genes have been implicated essential roles during embryogenesis and cardiac development, given their specific expression pattern in developing mammalian heart for several T-box genes, including TBX5. TBX5 is consisted of three transcriptional variants which cover 9 exons and encode two distinct isoforms that differ in N-terminus...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28335857/modeling-syndromic-congenital-heart-defects-in-zebrafish
#14
Meagan G Grant, Victoria L Patterson, Daniel T Grimes, Rebecca D Burdine
Cardiac development is a dynamic process regulated by spatial and temporal cues that are integrated to effect molecular, cellular, and tissue-level events that form the adult heart. Disruption of these highly orchestrated events can be devastating for cardiac form and function. Aberrations in heart development result in congenital heart defects (CHDs), which affect 1 in 100 infants in the United States each year. Zebrafish have proven informative as a model organism to understand both heart development and the mechanisms associated with CHDs due to the similarities in heart morphogenesis among vertebrates, as well as their genetic tractability and amenability to live imaging...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28334757/perturbations-in-cell-signaling-elicit-early-cardiac-defects-in-mucopolysaccharidosis-type-ii
#15
Roberto Costa, Andrea Urbani, Marika Salvalaio, Stefania Bellesso, Domenico Cieri, Ilaria Zancan, Mirella Filocamo, Paolo Bonaldo, Ildiko Szabò, Rosella Tomanin, Enrico Moro
Morphogens release and activity can be negatively affected by an impaired glycosaminoglycans (GAGs) turnover and proteoglycans assembly in the extracellular matrix, leading to altered tissue morphogenesis. In this work, we show that loss of Iduronate-2-sulfatase (IDS) activity, affecting GAGs catabolism and responsible for a life-threatening valvulopathy in mucopolysaccharidosis type II (MPSII), triggers early Sonic Hedgehog (Shh) and Wnt/β-catenin signaling defects, leading to aberrant heart development and atrioventricular valve formation in a zebrafish model...
February 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28333011/utility-of-deep-inspiration-breath-hold-for-left-sided-breast-radiation-therapy-in-preventing-early-cardiac-perfusion-defects-a-prospective-study
#16
Timothy M Zagar, Orit Kaidar-Person, Xiaoli Tang, Ellen E Jones, Jason Matney, Shiva K Das, Rebecca L Green, Arif Sheikh, Amir H Khandani, William H McCartney, Jorge Daniel Oldan, Terence Z Wong, Lawrence B Marks
PURPOSE: To evaluate early cardiac single photon computed tomography (SPECT) findings after left breast/chest wall postoperative radiation therapy (RT) in the setting of deep inspiration breath hold (DIBH). METHODS AND MATERIALS: We performed a prospective single-institution single-arm study of patients who were planned for tangential RT with DIBH to the left breast/chest wall (± internal mammary nodes). The DIBH was done by use of a controlled surface monitoring technique (AlignRT, Vision RT Ltd, London, UK)...
April 1, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/28331629/congenital-diaphragmatic-hernia-a-review
#17
REVIEW
Praveen Kumar Chandrasekharan, Munmun Rawat, Rajeshwari Madappa, David H Rothstein, Satyan Lakshminrusimha
Congenital Diaphragmatic hernia (CDH) is a condition characterized by a defect in the diaphragm leading to protrusion of abdominal contents into the thoracic cavity interfering with normal development of the lungs. The defect may range from a small aperture in the posterior muscle rim to complete absence of diaphragm. The pathophysiology of CDH is a combination of lung hypoplasia and immaturity associated with persistent pulmonary hypertension of newborn (PPHN) and cardiac dysfunction. Prenatal assessment of lung to head ratio (LHR) and position of the liver by ultrasound are used to diagnose and predict outcomes...
2017: Maternal Health, Neonatology and Perinatology
https://www.readbyqxmd.com/read/28330612/association-between-mutations-in-the-nkx2-5-homeobox-atrial-septal-defects-ventricular-noncompaction-and-sudden-cardiac-death
#18
Julián Palomino Doza, Rafael Salguero-Bodes, María de la Parte, Fernando Arribas-Ynsaurriaga
No abstract text is available yet for this article.
March 16, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28329461/cardiac-function-after-tetralogy-of-fallot-complete-atrioventricular-canal-repair
#19
Elizabeth H Stephens, Jennifer Tingo, Marc Najjar, Betul Yilmaz, Stéphanie Levasseur, Jeffrey D Dayton, Ralph S Mosca, Paul Chai, Jan M Quaegebeur, Emile A Bacha
BACKGROUND: Repair of complete atrioventricular canal (CAVC) with tetralogy of Fallot (TOF) is a challenging operation increasingly being performed as a complete, primary repair in infancy. Previous studies have focused on perioperative outcomes; however, midterm valve function, ventricular function, and residual obstruction have received little attention. METHODS: We retrospectively reviewed 20 patients who underwent CAVC/TOF repair (January 2005 to December 2014)...
March 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28328590/air-embolism-during-posterior-spinal-fusion-in-a-10-year-old-girl-a-case-report
#20
Paul F Lee-Archer, Brett Chaseling
Venous air embolism is a rare but recognized complication of posterior spinal fusion surgery and epidural placement using a loss of resistance to air technique. We report a case of a probable venous air embolism causing cardiac arrest in a 10-year-old girl undergoing posterior spinal fusion in the prone position. The most likely source of the embolism was injection of air into the epidural space from a loss of resistance to air technique. This case also demonstrates the potential for paradoxical cerebral embolism in the absence of an intracardiac defect...
March 15, 2017: A & A Case Reports
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