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https://www.readbyqxmd.com/read/30049892/heterotaxy-syndrome-and-intestinal-rotation-abnormalities
#1
Lindsay M Ryerson, Scott Pharis, Charissa Pockett, Reeni Soni, Deborah Fruitman, Kristine J Guleserian, Melissa Nater, Stephen C Raynor, Andrew S Mackie, Bryan Dicken
BACKGROUND: Infants with heterotaxy syndrome (HS) have abnormal lateralization of organs along the right-left body axis. Intestinal rotation abnormalities (IRAs) are a potential source of morbidity and mortality. For this study, our objective was to prospectively observe a cohort of infants with HS and determine the incidence and natural history of IRA. METHODS: Infants ≤6 months of age with HS were enrolled in this prospective observational study. Exclusion criteria were other congenital abnormalities that necessitated abdominal surgery...
August 2018: Pediatrics
https://www.readbyqxmd.com/read/30041775/long-term-survival-and-phenotypic-spectrum-in-heterotaxy-syndrome-a-25-year-follow-up-experience
#2
Anwar Baban, Nicoletta Cantarutti, Rachele Adorisio, Roberta Lombardi, Giulio Calcagni, Eva Piano Mortari, Bruno Dallapiccola, Bruno Marino, Fiore Salvatore Iorio, Rita Carsetti, Maria Cristina Digilio, Salvatore Giannico, Fabrizio Drago, Adriano Carotti
BACKGROUND: Heterotaxy syndrome (HS) is a group of congenital disorders characterized by abnormal arrangement of thoraco-abdominal organs across the left-right axis of the body, classified as right (RAI) and left atrial isomerism (LAI)·We investigated the long-term survival and phenotypic spectrum in our HS cohort. Results are compared to literature data. METHODS: This is a single centre, observational, both retro and prospective study. Cardiac features, surgical management and abdominal ultrasound (US) of all HS patients were reviewed or investigated if missing...
October 1, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29992973/a-requirement-for-zic2-in-the-regulation-of-nodal-expression-underlies-the-establishment-of-left-sided-identity
#3
Iain M Dykes, Dorota Szumska, Linta Kuncheria, Rathi Puliyadi, Chiann-Mun Chen, Costis Papanayotou, Helen Lockstone, Christèle Dubourg, Véronique David, Jurgen E Schneider, Thomas M Keane, David J Adams, Steve D M Brown, Sandra Mercier, Sylvie Odent, Jérôme Collignon, Shoumo Bhattacharya
ZIC2 mutation is known to cause holoprosencephaly (HPE). A subset of ZIC2 HPE probands harbour cardiovascular and visceral anomalies suggestive of laterality defects. 3D-imaging of novel mouse Zic2 mutants uncovers, in addition to HPE, laterality defects in lungs, heart, vasculature and viscera. A strong bias towards right isomerism indicates a failure to establish left identity in the lateral plate mesoderm (LPM), a phenotype that cannot be explained simply by the defective ciliogenesis previously noted in Zic2 mutants...
July 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29968369/reoperation-for-left-atrioventricular-valve-failure-in-repaired-atrioventricular-septal-defect-can-more-valves-be-preserved-in-the-current-era
#4
Tommaso Generali, Shady El Sayed, Vinay Rao, Carlos Pardo, Stefano Congiu, Osama Jaber, Carin van Doorn
OBJECTIVE: Left atrio-ventricular valve (LAVV) regurgitation after repair of an atrio-ventricular septal defect (AVSD) may necessitate further surgery. However, redo-LAVV repair remains challenging. We sought to determine if more LAVV valves are preserved in the current era, and analyze early and longer-term results. PATIENTS: All consecutive patients with repaired AVSD who underwent redo-LAVV surgery from January 2004 to April 2017 were included. Patients with single ventricles, atrial isomerism, and complex associated anomalies were excluded...
July 2, 2018: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/29954599/effect-of-prenatal-laterality-disturbance-and-its-accompanying-anomalies-on-survival
#5
Trisha V Vigneswaran, Caroline B Jones, Vita Zidere, Marietta Charakida, Owen I Miller, John M Simpson, Gurleen K Sharland
In this retrospective, observational study of fetuses diagnosed with a laterality disturbance we describe the findings and outcome of fetuses diagnosed between 1980 and 2017 at a tertiary fetal-pediatric cardiology unit. In addition we sought to identify features which impact on outcome. Left atrial isomerism (LAI) was diagnosed in 177 babies and right atrial isomerism (RAI) in 100. Major structural heart disease was present in all cases of RAI and 91% with LAI. Complete heart block (CHB) was present in 40% of LAI...
June 20, 2018: American Journal of Cardiology
https://www.readbyqxmd.com/read/29899961/azobenzene-as-a-photoregulator-covalently-attached-to-rna-a-quantum-mechanics-molecular-mechanics-surface-hopping-dynamics-study
#6
Padmabati Mondal, Giovanni Granucci, Dominique Rastädter, Maurizio Persico, Irene Burghardt
The photoregulation of nucleic acids by azobenzene photoswitches has recently attracted considerable interest in the context of emerging biotechnological applications. To understand the mechanism of photoinduced isomerisation and conformational control in these complex biological environments, we employ a Quantum Mechanics/Molecular Mechanics (QM/MM) approach in conjunction with nonadiabatic Surface Hopping (SH) dynamics. Two representative RNA-azobenzene complexes are investigated, both of which contain the azobenzene chromophore covalently attached to an RNA double strand via a β-deoxyribose linker...
May 28, 2018: Chemical Science
https://www.readbyqxmd.com/read/29779315/-improving-outcomes-of-patients-with-heterotaxy-and-functional-single-ventricle-a-10-year-follow-up-of-70-cases-in-a-single-institution
#7
F Cao, M H Zou, L Ma, Y S Xia, S C Yang, W D Chen, G D Huang, X X Chen
Objective: To review current-era palliation outcomes of patients with heterotaxy and functional single ventricle in a single institution. Methods: The clinical data of 70 consecutive patients with heterotaxy undergoing multistage single ventricle palliation in Guangzhou Women and Children's Medical Center from January 2008 to December 2017 were retrospectively reviewed, and the prognosis factors for mortality were analyzed. There were 53 male and 17 female patients.The median age was 13.3 months (range: 6 days to 150 months)...
May 1, 2018: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/29775603/genetic-and-extracardiac-anomalies-are-associated-with-inferior-single-ventricle-palliation-outcomes
#8
Bahaaldin Alsoufi, Courtney McCracken, Matthew Oster, Subhadra Shashidharan, Kirk Kanter
BACKGROUND: We aim to examine the effect of genetic syndromes and extracardiac anomalies (GS/EC) on single ventricle (SV) palliation with focus on hospital death, interstage mortality, and progression towards subsequent palliation stages. METHODS: 530 neonates with SV underwent first-stage palliation: Norwood (n=284,53%), shunt (n=173,33%), band (n=73,14%). Outcomes were compared between those with GS/EC (n=121,23%) and without GS/EC (n=409,77%). Regression analyses were adjusted for other risk factors (age, gender, prematurity, weight, SV anomaly, first-stage palliation surgery)...
May 15, 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29571748/structural-basis-of-the-signal-transduction-via-transmembrane-domain-of-the-human-growth-hormone-receptor
#9
Eduard V Bocharov, Dmitry M Lesovoy, Olga V Bocharova, Anatoly S Urban, Konstantin V Pavlov, Pavel E Volynsky, Roman G Efremov, Alexander S Arseniev
BACKGROUND: Prior studies of the human growth hormone receptor (GHR) revealed a distinct role of spatial rearrangements of its dimeric transmembrane domain in signal transduction across membrane. Detailed structural information obtained in the present study allowed elucidating the bases of such rearrangement and provided novel insights into receptor functioning. METHODS: We investigated the dimerization of recombinant TMD fragment GHR254-294 by means of high-resolution NMR in DPC micelles and molecular dynamics in explicit POPC membrane...
June 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29552537/primary-ciliary-dyskinesia-and-situs-ambiguus-a-rare-association
#10
Kumar Narahari Narahari, Anu Kapoor, Sarat Kumar Sanamandra, Surya Ramachandra Varma Gunturi
Primary ciliary dyskinesia (PCD) is a rare disorder with impaired ciliary function resulting in a spectrum of clinical manifestations of varying severity. PCD affects approximately one in every 20,000 individuals with a reported prevalence between 1:4000 and 1:50,000. Due to its nonspecific clinical features, the condition is usually diagnosed late in its course, unless situs inversus (SI) or organ laterality defects are discovered at imaging. A small subset of patients with PCD display associated organ laterality defects, different from the classical SI totalis...
January 2018: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/29507233/chirality-controlled-spontaneous-twisting-of-crystals-due-to-thermal-topochemical-reaction
#11
Rishika Rai, Baiju P Krishnan, Kana M Sureshan
Crystals that show mechanical response against various stimuli are of great interest. These stimuli induce polymorphic transitions, isomerizations, or chemical reactions in the crystal and the strain generated between the daughter and parent domains is transcribed into mechanical response. We observed that the crystals of modified dipeptide LL (N3 -l-Ala-l-Val-NHCH2 C≡CH) undergo spontaneous twisting to form right-handed twisted crystals not only at room temperature but also at 0 °C over time. Using various spectroscopic techniques, we have established that the twisting is due to the spontaneous topochemical azide-alkyne cycloaddition (TAAC) reaction at room temperature or lower temperatures...
March 20, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29479365/plastid-genome-evolution-in-the-early-diverging-legume-subfamily-cercidoideae-fabaceae
#12
Yin-Huan Wang, Susann Wicke, Hong Wang, Jian-Jun Jin, Si-Yun Chen, Shu-Dong Zhang, De-Zhu Li, Ting-Shuang Yi
The subfamily Cercidoideae is an early-branching legume lineage, which consists of 13 genera distributed in the tropical and warm temperate Northern Hemisphere. A previous study detected two plastid genomic variations in this subfamily, but the limited taxon sampling left the overall plastid genome (plastome) diversification across the subfamily unaddressed, and phylogenetic relationships within this clade remained unresolved. Here, we assembled eight plastomes from seven Cercidoideae genera and conducted phylogenomic-comparative analyses in a broad evolutionary framework across legumes...
2018: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29455772/prenatal-diagnosis-of-congenital-heart-disease-a-review-of-current-knowledge
#13
REVIEW
Nathalie Jeanne Bravo-Valenzuela, Alberto Borges Peixoto, Edward Araujo Júnior
This article reviews important features to improve the diagnosis of congenital heart disease (CHD) by applying ultrasound in prenatal cardiac screening. As low and high-risk pregnancies for CHD are subject to routine obstetric ultrasound, the diagnosis of structural heart defects represents a challenge that involves a team of specialists and subspecialists on fetal ultrasonography. In this review, the images highlight normal anatomy of the heart as well as pathologic cases consistent with cardiac malposition and isomerism, septal defects, pulmonary stenosis/atresia, aortic malformations, hypoplastic left ventricle, conotruncal anomalies, tricuspid dysplasia, and Ebstein's anomaly, and univentricular heart, among other congenital cardiovascular defects...
January 2018: Indian Heart Journal
https://www.readbyqxmd.com/read/29444810/disharmonious-patterns-of-heterotaxy-and-isomerism-how-often-are-the-classic-patterns-breached
#14
Deane Yim, Hazumu Nagata, Christopher Z Lam, Lars Grosse-Wortmann, Mike Seed, Edgar Jaeggi, Shi-Joon Yoo
BACKGROUND: It is advocated that heterotaxy should be segregated into right or left isomerism according to atrial appendage morphology. However, atrial situs determination is often based on the pattern of associated findings rather than on atrial morphology itself, which can be difficult to define. The objective was to assess how often concordant patterns of isomerism classified by atrial appendage morphology, bronchopulmonary pattern, and splenic status are breached using cardiac magnetic resonance or computed tomography...
February 2018: Circulation. Cardiovascular Imaging
https://www.readbyqxmd.com/read/29415491/is-an-appreciation-of-isomerism-the-key-to-unlocking-the-mysteries-of-the-cardiac-findings-in-heterotaxy
#15
REVIEW
Robert H Anderson, Diane E Spicer, Rohit Loomba
Pediatric cardiologists treating patients with severe congenital cardiac defects define "visceral heterotaxy" on the basis of isomerism of the atrial appendages. The isomeric features represent an obvious manifestation of disruption of left-right asymmetry during embryonic development. Thus, there are two subsets of individuals within the overall syndrome, with features of either right or left isomerism. Within the heart, it is only the atrial appendages that are truly isomeric. The remainder of the cardiac components shows variable morphology, as does the arrangement of the remaining body organs...
February 6, 2018: Journal of Cardiovascular Development and Disease
https://www.readbyqxmd.com/read/29367552/the-role-of-cerl2-in-the-establishment-of-left-right-asymmetries-during-axis-formation-and-heart-development
#16
REVIEW
José A Belo, Sara Marques, José M Inácio
The formation of the asymmetric left-right (LR) body axis is one of the fundamental aspects of vertebrate embryonic development, and one still raising passionate discussions among scientists. Although the conserved role of nodal is unquestionable in this process, several of the details around this signaling cascade are still unanswered. To further understand this mechanism, we have been studying Cerberus-like 2 (Cerl2), an inhibitor of Nodal, and its role in the generation of asymmetries in the early vertebrate embryo...
December 10, 2017: Journal of Cardiovascular Development and Disease
https://www.readbyqxmd.com/read/29326834/ablation-of-atrial-fibrillation-in-patients-with-congenital-heart-disease
#17
Marwan M Refaat, Jad Ballout, Moussa Mansour
With improved surgical techniques and medical management for patients with congenital heart diseases, more patients are living longer and well into adulthood. This improved survival comes with a price of increased morbidity, mainly secondary to increased risk of tachyarrhythmias. One of the major arrhythmias commonly encountered in this subset of cardiac patients is AF. Similar to the general population, the risk of AF increases with advancing age, and is mainly secondary to the abnormal anatomy, abnormal pressure and volume parameters in the hearts of these patients and to the increased scarring and inflammation seen in the left atrium following multiple surgical procedures...
December 2017: Arrhythmia & Electrophysiology Review
https://www.readbyqxmd.com/read/29306297/hydration-of-urea-and-alkylated-urea-derivatives
#18
Udo Kaatze
Compressibility data and broadband dielectric spectra of aqueous solutions of urea and some of its alkylated derivatives have been evaluated to yield their numbers Nh of hydration water molecules per molecule of solute. Nh values in a broad range of solute concentrations are discussed and are compared to hydration numbers of other relevant molecules and organic ions. Consistent with previous results, it is found that urea differs from other solutes in its unusually small hydration number, corresponding to just one third of the estimated number of nearest neighbor molecules...
January 7, 2018: Journal of Chemical Physics
https://www.readbyqxmd.com/read/29225866/magnetic-guided-catheter-ablation-of-twin-av-nodal-reentrant-tachycardia-in-a-patient-with-left-atrial-isomerism-interrupted-inferior-vena-cana-and-kawashima-fontan-procedure
#19
Francis Bessière, François-Pierre Mongeon, Judith Therrien, Paul Khairy
Twin AV nodal reentrant tachycardia most commonly occurs in patients with complex congenital heart disease who have two distinct AV nodes, His bundles, and non-preexcited QRS morphologies. Catheter ablation of the weaker AV node may be hindered by anatomical complexities. In such cases, remote magnetic guidance offers a potentially effective solution.
December 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29164001/paradoxical-elevation-of-serum-tracp5b-levels-despite-increase-in-lumbar-spine-bone-mineral-density-during-anti-tnf%C3%AE-therapy-in-patients-with-inflammatory-rheumatic-disease-a-2-year-prospective-assessment-of-bone-mass-bone-metabolism-and-the-trabecular-bone
#20
Éric Toussirot, Laurent Mourot, Barbara Dehecq, Fabrice Michel, Daniel Wendling, Émilie Grandclément, Gilles Dumoulin
Objective: To examine the impact of long-term anti-TNFα therapy on bone mass, bone metabolism, and the trabecular bone score (TBS) in patients with rheumatoid arthritis (RA) or ankylosing spondylitis (AS). Material and Methods: In eight patients with RA and 12 with AS, bone mineral densities (BMDs) of the lumbar spine (LS), left and right femoral neck, and total skeleton were measured using dual X-ray absorptiometry at baseline and then at 6, 12, and 24 months after anti TNFα therapy...
September 2017: European Journal of Rheumatology
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