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https://www.readbyqxmd.com/read/28104484/sick-sinus-syndrome-with-hcn4-mutations-shows-early-onset-and-frequent-association-with-atrial-fibrillation-and-left-ventricular-non-compaction
#1
Taisuke Ishikawa, Seiko Ohno, Takashi Murakami, Kentaro Yoshida, Hiroyuki Mishima, Tetsuya Fukuoka, Hiroki Kimoto, Risa Sakamoto, Takafumi Ohkusa, Takeshi Aiba, Akihiko Nogami, Naokata Sumitomo, Wataru Shimizu, Koh-Ichiro Yoshiura, Hitoshi Horigome, Minoru Horie, Naomasa Makita
BACKGROUND: Familial sick sinus syndrome (SSS) is often attributable to mutations in genes encoding the cardiac Na channel SCN5A and pacemaker channel HCN4. We previously found that SSS with SCN5A mutations shows early onset of manifestations and male predominance. Despite recent reports on the complications of atrial fibrillation (AF) and left ventricular non-compaction (LVNC) in patients with SSS caused by HCN4 mutations, their overall clinical spectrum remains unknown. OBJECTIVE: To investigate the clinical and demographic features of SSS patients carrying HCN4 mutations...
January 16, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28102598/novel-findings-of-left-ventricular-non-compaction-cardiomyopathy-microform-cleft-lip-and-poor-vision-in-patient-with-smc1a-associated-cornelia-de-lange-syndrome
#2
Tara L Wenger, Penny Chow, Stephanie C Randle, Anna Rosen, Craig Birgfeld, Joanna Wrede, Patrick Javid, Darcy King, Vivian Manh, Anne V Hing, Erin Albers
Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28076895/implantation-of-left-ventricular-assist-device-in-a-patient-with-left-ventricular-non-compaction
#3
Keki R Balsara, Andrew Bierhals, Justin Vader, Michael K Pasque, Aki Itoh
Left ventricular noncompaction (LVNC) may result in systolic left ventricular (LV) failure resulting in the need for heart transplantation. LV assist devices (LVAD) have been used to bridge these patients to transplantation; however, the extensive trabeculations found in these patients predispose them to thromboembolic events and pump thrombosis. We describe a patient with LVNC in whom an aggressive surgical approach was used to debride the LV cavity of trabeculations to successfully implant an LVAD.
January 11, 2017: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/28076777/antagonistic-functions-of-mbp-and-cnp-establish-cytosolic-channels-in-cns-myelin
#4
Nicolas Snaidero, Caroline Velte, Matti Myllykoski, Arne Raasakka, Alexander Ignatev, Hauke B Werner, Michelle S Erwig, Wiebke Möbius, Petri Kursula, Klaus-Armin Nave, Mikael Simons
The myelin sheath is a multilamellar plasma membrane extension of highly specialized glial cells laid down in regularly spaced segments along axons. Recent studies indicate that myelin is metabolically active and capable of communicating with the underlying axon. To be functionally connected to the neuron, oligodendrocytes maintain non-compacted myelin as cytoplasmic nanochannels. Here, we used high-pressure freezing for electron microscopy to study these cytoplasmic regions within myelin close to their native state...
January 10, 2017: Cell Reports
https://www.readbyqxmd.com/read/28064059/par1-activation-affects-the-neurotrophic-properties-of-schwann-cells
#5
Elena Pompili, Cinzia Fabrizi, Francesca Somma, Virginia Correani, Bruno Maras, Maria Eugenia Schininà, Viviana Ciraci, Marco Artico, Francesco Fornai, Lorenzo Fumagalli
Protease-activated receptor-1 (PAR1) is the prototypic member of a family of four G-protein-coupled receptors that signal in response to extracellular proteases. In the peripheral nervous system, the expression and/or the role of PARs are still poorly investigated. High PAR1 mRNA expression was found in the rat dorsal root ganglia and the signal intensity of PAR1 mRNA increased in response to sciatic nerve transection. In the sciatic nerve, functional PAR1 receptor was reported at the level of non-compacted Schwann cell myelin microvilli of the nodes of Ranvier...
January 4, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/28024297/variable-chromatin-structure-revealed-by-in-situ-spatially-correlated-dna-cleavage-mapping
#6
Viviana I Risca, Sarah K Denny, Aaron F Straight, William J Greenleaf
Chromatin structure at the length scale encompassing local nucleosome-nucleosome interactions is thought to play a crucial role in regulating transcription and access to DNA. However, this secondary structure of chromatin remains poorly understood compared with the primary structure of single nucleosomes or the tertiary structure of long-range looping interactions. Here we report the first genome-wide map of chromatin conformation in human cells at the 1-3 nucleosome (50-500 bp) scale, obtained using ionizing radiation-induced spatially correlated cleavage of DNA with sequencing (RICC-seq) to identify DNA-DNA contacts that are spatially proximal...
December 26, 2016: Nature
https://www.readbyqxmd.com/read/28013292/mib2-variants-altering-notch-signalling-result-in-left-ventricle-hypertrabeculation-non-compaction-and-are-associated-with-m%C3%A3-n%C3%A3-trier-like-gastropathy
#7
Pasquale Piccolo, Sergio Attanasio, Ilaria Secco, Riccardo Sangermano, Caterina Strisciuglio, Giuseppe Limongelli, Erasmo Miele, Margherita Mutarelli, Sandro Banfi, Vincenzo Nigro, Tirso Pons, Alfonso Valencia, Lorena Zentilin, Severo Campione, Gerardo Nardone, Ty C Lynnes, Patricia B S Celestino-Soper, Katherine G Spoonamore, Francesco P D'Armiento, Mauro Giacca, Annamaria Staiano, Matteo Vatta, Chiara Collesi, Nicola Brunetti-Pierri
We performed whole exome sequencing in individuals from a family with autosomal dominant gastropathy resembling Ménétrier disease, a premalignant gastric disorder with epithelial hyperplasia and enhanced EGFR signalling. Ménétrier disease is believed to be an acquired disorder, but its aetiology is unknown. In affected members, we found a missense p.V742G variant in MIB2, a gene regulating NOTCH signalling that has not been previously linked to human diseases. The variant segregated with the disease in the pedigree, affected a highly conserved amino acid residue, and was predicted to be deleterious although it was found with a low frequency in control individuals...
December 23, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27942762/tricuspid-atresia-with-non-compaction-an-early-experience-with-implications-for-surgical-palliation
#8
Hoang H Nguyen, Rabia Khan, Norman H Silverman, Gautam K Singh
Left ventricle non-compaction (LVNC) has worse outcomes when associated with congenital heart defects (CHD). The co-occurrence and outcomes of LVNC with tricuspid atresia (TA) are not well described. Our study aims to determine the prevalence of LVNC with functionally single ventricle due to TA, and to describe the early outcomes of surgical palliation. A retrospective database search for patients (n = 167,566) and echocardiograms (n = 44,053) was performed in order to collect clinical, echocardiographic, and hemodynamic data of pediatric patients with TA and LVNC at St...
December 10, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27931099/aggregation-of-elongated-colloids-in-water
#9
Lei Wu, Carlos P Ortiz, Douglas J Jerolmack
Colloidal aggregation is a canonical example of disordered growth far from equilibrium and has been extensively studied for the case of spherical monomers. Many particles encountered in industry and the environment are highly elongated; however, the control of particle shape on aggregation kinetics and structure is not well-known. Here, we explore this control in laboratory experiments that document aqueous diffusion and aggregation of two different elongated colloids: natural asbestos fibers and synthetic glass rods, with similar aspect ratios of about 5:1...
January 4, 2017: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/27930960/loss-of-rearranged-l-myc-fusion-rlf-results-in-defects-in-heart-development-in-the-mouse
#10
L M Bourke, G Del Monte-Nieto, J E Outhwaite, V Bharti, P M Pollock, D G Simmons, A Adam, S S J Hur, G J Maghzal, E Whitelaw, R Stocker, C M Suter, R P Harvey, S K Harten
Recently we reported that Rearranged L-Myc Fusion, RLF, acts as an epigenetic modifier maintaining low levels of DNA methylation at CpG island shores and enhancers across the genome. Here we focus on the phenotype of Rlf null mutant mice generated via an ENU mutagenesis screen, to identify genes required for epigenetic regulation. RLF is expressed in a range of fetal mouse tissues, including the fetal heart. Comprehensive timed-mating studies are consistent with our previously reported findings that Rlf homozygous mutant mice rarely survive to adulthood, with the majority dying shortly after birth...
December 5, 2016: Differentiation; Research in Biological Diversity
https://www.readbyqxmd.com/read/27909566/prenatal-diagnosis-of-a-terminal-chromosome-1-q42-q44-deletion-original-case-report-and-review-of-the-literature
#11
C Van Linthout, V Emonard, J S Gatot, X Capelle, F Kridelka, P Emonts, M C Segghaye
Terminal chromosome 1q deletion is rarely reported but causes typical malformations that have been well described in childhood. Clinical features include facial dysmorphy, growth and/or psychomotor retardation, brain agenesis or hypoplasia of the corpus callosum, epilepsy and occasional urogenital or cardiac malformations. The diagnosis of this condition is usually made at birth. The rare cases of antenatal diagnosis were based on microcephaly and growth retardation. In the present case, the foetus presented with an hypoplasia of the corpus callosum, a dysmorphic profile and a single umbilical artery...
June 27, 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/27894062/echocardiographic-comparison-between-left-ventricular-non-compaction-and-hypertrophic-cardiomyopathy
#12
Trine F Haland, Jørg Saberniak, Ida S Leren, Thor Edvardsen, Kristina H Haugaa
BACKGROUND: Modern imaging technology has improved detection of left ventricular non-compaction cardiomyopathy (LVNC). Hypertrophic cardiomyopathy (HCM) shares morphological features with LVNC, but prognosis and treatment strategies differ between LVNC and HCM. METHODS AND RESULTS: We aimed to compare global and regional LV myocardial function in LVNC and HCM. We hypothesized that apical function is reduced in LVNC due to the embryonic reduced compaction of the apex...
February 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/27890738/ventricular-arrhythmias-associated-with-left-ventricular-noncompaction-electrophysiologic-characteristics-mapping-and-ablation
#13
Daniele Muser, Jackson J Liang, Walter Rt Witschey, Rajeev K Pathak, Simon Castro, Silvia Magnani, Erica S Zado, Fermin C Garcia, Benoit Desjardins, David J Callans, David S Frankel, Francis E Marchlinski, Pasquale Santangeli
BACKGROUND: Left ventricular noncompaction (LVNC) is a primary cardiomyopathy that can present with recurrent ventricular arrhythmias (VAs). Data on the benefit of catheter ablation of VAs in LVNC are lacking. OBJECTIVE: The purpose of this study was to describe the electrophysiologic features and outcomes of catheter ablation of VAs in LVNC. METHODS: The cohort consisted of 9 patients (age 42 ± 15 years) with diagnosis of LVNC based on established criteria and VA (ventricular tachycardia [VT] in 3 and frequent premature ventricular contractions (PVCs) in 6) despite treatment with a mean of 2 ± 1 antiarrhythmic drugs...
November 24, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/27858040/morphology-dictated-heterogeneous-dynamics-in-two-dimensional-aggregates
#14
Tamoghna Das, T Lookman, M M Bandi
Particulate aggregates occur in a variety of non-equilibrium steady-state morphologies ranging from finite-size compact crystalline structures to non-compact string-like conformations. This diversity is due to the competition between pair-wise short range attraction and long range repulsion between particles. We identify different microscopic mechanisms in action by following the simulated particle trajectories for different morphologies in two dimensions at a fixed density and temperature. In particular, we show that the compact clusters are governed by symmetric caging of particles by their nearest neighbors while sidewise asymmetric binding of particles leads to non-compact aggregates...
December 6, 2016: Soft Matter
https://www.readbyqxmd.com/read/27799064/mipep-recessive-variants-cause-a-syndrome-of-left-ventricular-non-compaction-hypotonia-and-infantile-death
#15
Mohammad K Eldomery, Zeynep C Akdemir, F-Nora Vögtle, Wu-Lin Charng, Patrycja Mulica, Jill A Rosenfeld, Tomasz Gambin, Shen Gu, Lindsay C Burrage, Aisha Al Shamsi, Samantha Penney, Shalini N Jhangiani, Holly H Zimmerman, Donna M Muzny, Xia Wang, Jia Tang, Ravi Medikonda, Prasanna V Ramachandran, Lee-Jun Wong, Eric Boerwinkle, Richard A Gibbs, Christine M Eng, Seema R Lalani, Jozef Hertecant, Richard J Rodenburg, Omar A Abdul-Rahman, Yaping Yang, Fan Xia, Meng C Wang, James R Lupski, Chris Meisinger, V Reid Sutton
BACKGROUND: Mitochondrial presequence proteases perform fundamental functions as they process about 70 % of all mitochondrial preproteins that are encoded in the nucleus and imported posttranslationally. The mitochondrial intermediate presequence protease MIP/Oct1, which carries out precursor processing, has not yet been established to have a role in human disease. METHODS: Whole exome sequencing was performed on four unrelated probands with left ventricular non-compaction (LVNC), developmental delay (DD), seizures, and severe hypotonia...
November 1, 2016: Genome Medicine
https://www.readbyqxmd.com/read/27754701/left-ventricular-non-compaction-cardiomyopathy-incidental-diagnosis-after-st-elevation-myocardial-infarction
#16
Jackson J Liang, Eric R Fenstad, Christopher D Janish, Lawrence J Sinak
Left ventricular non-compaction cardiomyopathy is a rare congenital cardiomyopathy, which usually presents early in life but may also manifest into adulthood. We present the case of an elderly woman with left ventricular non-compaction cardiomyopathy, which was discovered incidentally following an ST-elevation myocardial infarction.
October 18, 2016: Acute Cardiac Care
https://www.readbyqxmd.com/read/27751299/hypoplastic-right-heart-syndrome-absent-pulmonary-valve-and-non-compacted-left-ventricle-in-an-adult
#17
Jagdish C Mohan, Vishwas Mohan, Madhu Shukla, Arvind Sethi
Hypoplastic right heart syndrome is a rare cyanotic congenital heart disease with under-development of the right ventricle, tricuspid, and pulmonary valves leading to right-to-left shunting of the blood through inter-atrial septal defect. Perinatal mortality is high with very few patients surviving to adulthood without corrective surgery. This report describes a 26-year-old young woman, who had recurrent abortions and stillbirths and detected to have marked cyanosis with hypoplastic right heart, sub-arterial ventricular septal defect, absent pulmonary valve, non-compaction of the left ventricle, and bicuspid aortic valve with aortic regurgitation...
September 2016: Indian Heart Journal
https://www.readbyqxmd.com/read/27721218/not-for-adults-only-mitraclip-use-in-a-paediatric-patient
#18
Denise C Joffe, Thomas K Jones, Mark Reisman, Elizabeth Perpetua, Yuk Law, Andreas Schuler, G Burkhard Mackensen
We present the primary report of a paediatric patient who had placement of the MitraClip device for severe functional mitral regurgitation. The patient was a 14-year-old boy with symptomatic end-stage non-compaction type cardiomyopathy secondary to a mitochondrial cytopathy. He had severe mitral regurgitation, tricuspid valve regurgitation, a severely dilated LV with apical non-compaction, severe LV dysfunction and severe pulmonary hypertension. Despite optimal medical therapy he developed progressive symptoms of congestive heart failure and he was not a candidate for an assist device or cardiac transplantation...
October 10, 2016: EuroIntervention
https://www.readbyqxmd.com/read/27717935/clinical-examples-of-left-ventricular-non-compaction-in-adults
#19
Natalia Y Osovska, Natalia V Kuzminova
INTRODUCTION: isolated left ventricular non-compaction (LVNC) is a heart disease with rather distinct morphologic and clinical manifestations. Available in the literature information about LVNC considering multiple left ventricle abnormal chords (LVAC) as one of its criterion motivated us to review the results obtained in the study of young patients with this pathology. The aim of the research was to demonstrate different clinical variants of left ventricular non-compaction course in adult patients and to clarify some pathogenetic aspects of this pathology...
2016: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/27695028/non-compaction-can-be-congenital-muscular-or-compensatory
#20
LETTER
J Finsterer, S Zarrouk-Mahjoub
No abstract text is available yet for this article.
2016: Acta Cardiologica
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