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https://www.readbyqxmd.com/read/29349559/a-mutant-hcn4-channel-in-a-family-with-bradycardia-left-bundle-branch-block-and-left-ventricular-noncompaction
#1
Ryosuke Yokoyama, Koshi Kinoshita, Yukiko Hata, Masayoshi Abe, Kenta Matsuoka, Keiichi Hirono, Masanobu Kano, Makoto Nakazawa, Fukiko Ichida, Naoki Nishida, Toshihide Tabata
We found that a female infant presenting with left bundle branch block and left ventricular noncompaction carries uninvestigated gene mutations HCN4(G811E), SCN5A(L1988R), DMD(S2384Y), and EMD(R203H). Here, we explored the possible pathogenicity of HCN4(G811E), which results in a G811E substitution in hyperpolarization-activated cyclic nucleotide-gated channel 4, the main subunit of the cardiac pacemaker channel. Voltage-clamp measurements in a heterologous expression system of HEK293T cells showed that HCN4(G811E) slightly reduced whole-cell HCN4 channel conductance, whereas it did not affect the gating kinetics, unitary conductance, or cAMP-dependent modulation of voltage-dependence...
January 18, 2018: Heart and Vessels
https://www.readbyqxmd.com/read/29337306/zinc-transporter-slc39a8-is-essential-for-cardiac-ventricular-compaction
#2
Wen Lin, Deqiang Li, Lan Cheng, Li Li, Feiyan Liu, Nicholas J Hand, Jonathan A Epstein, Daniel J Rader
Isolated left ventricular noncompaction (LVNC) results from excessive trabeculation and impaired myocardial compaction during heart development. The extracellular matrix (ECM) that separates endocardium from myocardium plays a critical but poorly understood role in ventricular trabeculation and compaction. In an attempt to characterize solute carrier family 39 member 8-null (Slc39a8-null) mice, we discovered that homozygous null embryos do not survive embryogenesis, and exhibit a cardiac phenotype similar to human LVNC...
January 16, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29324456/targeted-knockdown-of-bone-morphogenetic-protein-signaling-within-neural-progenitors-protects-the-brain-and-improves-motor-function-following-postnatal-hypoxia-ischemia
#3
Robert W Dettman, Derin Birch, Augusta Fernando, John A Kessler, Maria L V Dizon
Hypoxic-ischemic injury (HI) to the neonatal human brain results in myelin loss that, in some children, can manifest as cerebral palsy. Previously, we had found that neuronal overexpression of the bone morphogenic protein (BMP) inhibitor noggin during development increased oligodendroglia and improved motor function in an experimental model of HI utilizing unilateral common carotid artery ligation followed by hypoxia. As BMPs are known to negatively regulate oligodendroglial fate specification of neural stem cells and alter differentiation of committed oligodendroglia, BMP signaling is likely an important mechanism leading to myelin loss...
January 12, 2018: Developmental Neuroscience
https://www.readbyqxmd.com/read/29296057/myopathy-athletism-pregnancy-race-and-chromosomal-defects-need-to-be-considered-in-noncompaction
#4
Josef Finsterer, Claudia Stöllberger
No abstract text is available yet for this article.
January 2018: Journal of the Saudi Heart Association
https://www.readbyqxmd.com/read/29289512/long-term-follow-up-of-symptomatic-adult-patients-with-noncompaction-cardiomyopathy
#5
Joel Salazar-Mendiguchía, José González-Costello, Teresa Oliveras, Francisco Gual, Josep Lupón, Nicolás Manito
No abstract text is available yet for this article.
December 27, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29221698/undulating-clinical-course-of-noncompaction-cardiomyopathy
#6
Paola Dolader, Ferran Gran, Gemma Giralt, Queralt Ferrer, Ferran Rosés-Noguer, Dimpna C Albert
No abstract text is available yet for this article.
December 5, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29212902/is-left-ventricular-noncompaction-a-trait-phenotype-or-disease-the-evidence-points-to-phenotype
#7
EDITORIAL
Ray E Hershberger, Ana Morales, Jason Cowan
No abstract text is available yet for this article.
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29212898/genetic-testing-in-pediatric-left-ventricular-noncompaction
#8
Erin M Miller, Robert B Hinton, Richard Czosek, Angela Lorts, Ashley Parrott, Amy R Shikany, Richard F Ittenbach, Stephanie M Ware
BACKGROUND: Left ventricular noncompaction (LVNC) can occur in isolation or can co-occur with a cardiomyopathy phenotype or cardiovascular malformation. The yield of cardiomyopathy gene panel testing in infants, children, and adolescents with a diagnosis of LVNC is unknown. By characterizing a pediatric population with LVNC, we sought to determine the yield of cardiomyopathy gene panel testing, distinguish the yield of testing for LVNC with or without co-occurring cardiac findings, and define additional factors influencing genetic testing yield...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29209136/interaction-between-flow-diverter-and-parent-artery-of-intracranial-aneurysm-a-computational-study
#9
Wenyu Fu, Qixiao Xia
To evaluate the influence of deployment strategy on the mechanical interaction between braided stent and parent artery of intracranial aneurysm (the elasticity of the arterial wall is considered), finite-element analyses are carried out by referring to computational models of flow-diverter device and arterial wall. Two implantation strategies are used to virtually implant the braided stent into the ideal intracranial aneurysm model. One is the noncompacted implantation method, and the other is the implantation method of using push-pull technique...
2017: Applied Bionics and Biomechanics
https://www.readbyqxmd.com/read/29203216/the-presence-of-multiple-variants-affects-the-clinical-phenotype-and-prognosis-in-left-ventricular-noncompaction-after-surgery
#10
Keiichi Hirono, Takehiko Sakai, Yukiko Hata, Naonori Nishida
No abstract text is available yet for this article.
October 28, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29196915/coexistence-of-left-ventricular-hypertrophy-and-noncompaction-a-case-report
#11
Ikuo Misumi, Tsuyoshi Honda, Masanobu Ishii, Kunihiro Ohmori
No abstract text is available yet for this article.
December 1, 2017: Journal of Echocardiography
https://www.readbyqxmd.com/read/29176328/cardiomyopathy-associated-gene-1-sensitive-pkc-dependent-connexin-43-expression-and-phosphorylation-in-left-ventricular-noncompaction-cardiomyopathy
#12
Yuanyuan Xie, Shenghua Liu, Shengshou Hu, Yingjie Wei
BACKGROUND/AIMS: Cardiomyopathy-associated gene 1 (CMYA1) plays an important role in embryonic cardiac development, postnatal cardiac remodeling and myocardial injury repair. Abnormal CMYA1 expression may be involved in cardiac dysplasia and primary cardiomyopathy. Our study aims to establish the relationship between CMYA1 and Left ventricular noncompaction cardiomyopathy (LVNC) pathogenesis. METHODS: We explored the effects of CMYA1 on connexins (Cx), which contribute to gap junction intercellular communication (GJIC), and the underlying signaling pathway in human normal tissues, LVNC myocardial tissues and HL1 cells by means of western blotting, RT-qPCR, immunohistochemistry, immunofluorescence, co-immunoprecipitation and scrape loading-dye transfer...
November 24, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29151705/-formula-see-text-contraction-in-terms-of-measure-of-noncompactness-with-application-for-nonlinear-integral-equations
#13
Farzaneh Nikbakhtsarvestani, S Mansour Vaezpour, Mehdi Asadi
In this paper, some new generalization of Darbo's fixed point theorem is proved by using a [Formula: see text]-contraction in terms of a measure of noncompactness. Our result extends to obtaining a common fixed point for a pair of compatible mappings. The paper contains an application for nonlinear integral equations as well.
2017: Journal of Inequalities and Applications
https://www.readbyqxmd.com/read/29133480/masking-and-unmasking-of-isolated-noncompaction-of-the-left-ventricle-with-real-time-contrast-echocardiography
#14
Sourabh Aggarwal, Feng Xie, Thomas R Porter
No abstract text is available yet for this article.
November 2017: Circulation. Cardiovascular Imaging
https://www.readbyqxmd.com/read/29118297/phenotype-and-functional-analyses-in-a-transgenic-mouse-model-of-left-ventricular-noncompaction-caused-by-a-dtna-mutation
#15
Qing Cao, Yang Shen, Xin Liu, Xin Yu, Ping Yuan, Rong Wan, Xiuxia Liu, Xiaogang Peng, Wenfeng He, Jielin Pu, Kui Hong
DTNA encoding dystrobrevin-α (α-DB) is a putative causal gene associated with left ventricular noncompaction cardiomyopathy (LVNC). The aim of the study was to investigate the causal role of DTNA in LVNC using a transgenic mouse model.A missense mutation (c.146A > G, p.N49S) of DTNA was identified in a patient with LVNC by Sanger sequencing. Six independent lines of transgenic mice expressing the mutant DTNA under a myosin heavy chain 6 (Myh6) promoter were generated (Myh6:Dtna(N49S)). Phenotypic characteristics of DTNA-p...
November 8, 2017: International Heart Journal
https://www.readbyqxmd.com/read/29070935/existence-of-mild-solutions-for-fractional-nonautonomous-evolution-equations-of-sobolev-type-with-delay
#16
Haide Gou, Baolin Li
In this paper, we deal with a class of nonlinear fractional nonautonomous evolution equations with delay by using Hilfer fractional derivative, which generalizes the famous Riemann-Liouville fractional derivative. The definition of mild solutions for the studied problem was given based on an operator family generated by the operator pair [Formula: see text] and probability density function. Combining the techniques of fractional calculus, measure of noncompactness, and fixed point theorem with respect to k-set-contractive, we obtain a new existence result of mild solutions...
2017: Journal of Inequalities and Applications
https://www.readbyqxmd.com/read/29035186/left-ventricular-noncompaction-cardiomyopathy-and-recurrent-polymorphic-ventricular-tachycardia-a-case-report-and-literature-review
#17
Oluwaseun A Akinseye, Uzoma N Ibebuogu, Sunil K Jha
INTRODUCTION: Noncompaction cardiomyopathy is a rare phenotype of cardiomyopathy associated with severe cardiac arrhythmia and thromboembolic complications. CASE PRESENTATION: A 55-year-old woman presented with frank pulmonary edema and received a diagnosis of noncompaction cardiomyopathy. DISCUSSION: Left ventricular noncompaction cardiomyopathy is increasingly being diagnosed because of advances in imaging modalities. It is important to differentiate this new phenotype of cardiomyopathy from others because its diagnosis, management, and prognosis differ...
2017: Permanente Journal
https://www.readbyqxmd.com/read/29034641/-establishment-of-l-periaxin-gene-knock-out-rsc96-cell-line
#18
Min Liang, Tingting Peng, Yawei Shi
Periaxin, a protein of noncompact myelin, is specifically expressed in the peripheral nervous system (PNS). There are two protein isoform L-periaxin and S-Periaxin by alternative splicing of periaxin gene, playing an important role in the initiation of myelin formation. So far, 18 different mutation sites in L-periaxin gene have been found to induce the peripheral demyelinating neurological charcot-marie-tooth diseases subtype 4F (CMT4F). The technique of activation of transcription activator-like effector nucleases (TALENS) was used to knock out the L-periaxin gene in RSC 96 cell line of Rattus...
December 25, 2016: Sheng Wu Gong Cheng Xue Bao, Chinese Journal of Biotechnology
https://www.readbyqxmd.com/read/29032583/third-generation-ventricular-assist-device-mid-term-outcomes-of-the-heartware-hvad-in-pediatric-patients
#19
Mustafa Pac, Sinan Sabit Kocabeyoglu, Umit Kervan, Dogan Emre Sert, Serhat Koca, Ibrahim Ece, Feyza Aysenur Pac
The HeartWare HVAD is a small, third generation continuous flow pump that is intracorporeally placed for support of a failing ventricle in adult patients. This device is small in size when compared to other left ventricular assist devices and can therefore be used in smaller sized pediatric patients. We present our initial experience using the HVAD as a bridge to heart transplantation in the pediatric population. We performed a retrospective, single center, nonrandomized review of 17 pediatric patients who underwent HVAD implantation between June 2013 and March 2016...
October 15, 2017: Artificial Organs
https://www.readbyqxmd.com/read/28983180/positive-solutions-of-fractional-integral-equations-by-the-technique-of-measure-of-noncompactness
#20
Hemant Kumar Nashine, Reza Arab, Ravi P Agarwal, Manuel De la Sen
In the present study, we work on the problem of the existence of positive solutions of fractional integral equations by means of measures of noncompactness in association with Darbo's fixed point theorem. To achieve the goal, we first establish new fixed point theorems using a new contractive condition of the measure of noncompactness in Banach spaces. By doing this we generalize Darbo's fixed point theorem along with some recent results of (Aghajani et al. (J. Comput. Appl. Math. 260:67-77, 2014)), (Aghajani et al...
2017: Journal of Inequalities and Applications
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