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https://www.readbyqxmd.com/read/28817785/diving-into-the-world-of-alcohol-teratogenesis-a-review-of-zebrafish-models-of-fetal-alcohol-spectrum-disorders
#1
Yohaan Fernandes, Desirè M Buckley, Johann K Eberhart
Fetal alcohol spectrum disorders (FASD) refer to the entire suite of deleterious outcomes resulting from embryonic alcohol exposure. Along with other reviews in this edition, we provide insight into how animal models, specifically the zebrafish; have informed our understanding of FASD. We first provide a brief introduction to FASD. We discuss the zebrafish as a model organism and its strengths for alcohol research. We detail how zebrafish has been used to model some of the major defects present in FASD. These include behavioral defects, such as social behavior as well as learning and memory, and structural defects, disrupting organs such as the brain, sensory organs, heart and craniofacial skeleton...
August 17, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28817777/predicting-nox-catalysis-by-quantifying-ce-3-from-surface-and-lattice-oxygen
#2
Vinod Kumar Paidi, Louisa Savereide, David J Childers, Justin M Notestein, Charles Alexander Roberts, Johan van Lierop
Our work introduces a novel technique based on the magnetic response of Ce(3+) and molecular oxygen adsorbed on the surface of nanoceria and ceria-based catalysts that quantifies the number and type of defects, and demonstrates that this information is the missing link that finally enables predictive design of NOx catalysis in ceria-based systems. The new insights into ceria catalysis are enabled by quantifying the above for different ceria nanoparticle shapes (i.e. surface terminations) and O2 partial pressure...
August 17, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28817773/surface-reaction-barriometry-methane-dissociation-on-flat-and-stepped-transition-metal-surfaces
#3
Davide Migliorini, Helen Jane Chadwick, Francesco Nattino, Ana Gutiérrez-Gonzáles, Eric Dombrowski, Eric A High, Han Guo, Arthur L Utz, Bret Earl Jackson, Rainer D Beck, Geert-Jan Kroes
Accurately simulating heterogeneously catalyzed reactions requires reliable barriers for molecules reacting at defects on metal surfaces, such as steps. However, first principles methods capable of computing these barriers to chemical accuracy have yet to be demonstrated. We show that state-resolved molecular beam experiments combined with ab initio molecular dynamics using specific reaction parameter density functional theory (SRP-DFT) can determine the molecule-metal surface interaction with the required reliability...
August 17, 2017: Journal of Physical Chemistry Letters
https://www.readbyqxmd.com/read/28817611/the-directed-migration-of-gonadal-distal-tip-cells-in-caenorhabditis-elegans-requires-ngat-1-a-%C3%A3-1-4-n-acetylgalactosaminyltransferase-enzyme
#4
Joseph Veyhl, Robert J Dunn, Wendy L Johnston, Alexa Bennett, Lijia W Zhang, James W Dennis, Harry Schachter, Joseph G Culotti
Glycoproteins such as growth factor receptors and extracellular matrix have well-known functions in development and cancer progression, however, the glycans at sites of modification are often heterogeneous molecular populations which makes their functional characterization challenging. Here we provide evidence for a specific, discrete, well-defined glycan modification and regulation of a stage-specific cell migration in Caenorhabditis elegans. We show that a chain-terminating, putative null mutation in the gene encoding a predicted β1,4-N-acetylgalactosaminyltransferase, named ngat-1, causes a maternally rescued temperature sensitive (ts) defect in the second phase of the three phase migration pattern of the posterior, but not the anterior, hermaphrodite Distal Tip Cell (DTC)...
2017: PloS One
https://www.readbyqxmd.com/read/28817607/computer-aided-position-planning-of-miniplates-to-treat-facial-bone-defects
#5
Jan Egger, Jürgen Wallner, Markus Gall, Xiaojun Chen, Katja Schwenzer-Zimmerer, Knut Reinbacher, Dieter Schmalstieg
In this contribution, a software system for computer-aided position planning of miniplates to treat facial bone defects is proposed. The intra-operatively used bone plates have to be passively adapted on the underlying bone contours for adequate bone fragment stabilization. However, this procedure can lead to frequent intra-operatively performed material readjustments especially in complex surgical cases. Our approach is able to fit a selection of common implant models on the surgeon's desired position in a 3D computer model...
2017: PloS One
https://www.readbyqxmd.com/read/28817564/cell-cycle-related-kinase-ccrk-regulates-ciliogenesis-and-hedgehog-signaling-in-mice
#6
Ashley Snouffer, Desmond Brown, Hankyu Lee, Jonathon Walsh, Floria Lupu, Ryan Norman, Karl Lechtreck, Hyuk Wan Ko, Jonathan Eggenschwiler
The Hedgehog (Hh) signaling pathway plays a key role in cell fate specification, proliferation, and survival during mammalian development. Cells require a small organelle, the primary cilium, to respond properly to Hh signals and the key regulators of Hh signal transduction exhibit dynamic localization to this organelle when the pathway is activated. Here, we investigate the role of Cell Cycle Related kinase (CCRK) in regulation of cilium-dependent Hh signaling in the mouse. Mice mutant for Ccrk exhibit a variety of developmental defects indicative of inappropriate regulation of this pathway...
August 17, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28817534/radius-regeneration-after-open-fracture-and-extrusion-a-case-report
#7
Kristopher B McCall, David Y Chong
A pediatric patient presenting with an open forearm fracture with segmental defect is rare, and the pediatric orthopedic literature to guide treatment is sparse. There are several described methods to treat the defect, including bone grafting and bone transport techniques. In addition, there are reports of fibular regeneration after resection if the periosteum is left intact. We present a case report of complete regeneration of over half of a pediatric radial shaft with an intact periosteum, after traumatic extrusion from an open fracture...
August 16, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28817389/congenital-anomalies-of-the-optic-disc-insights-from-optical-coherence-tomography-imaging
#8
Karen W Jeng-Miller, Dean M Cestari, Eric D Gaier
PURPOSE OF REVIEW: Congenital anomalies of the optic nerve are rare but significant causes of visual dysfunction in children and adults. Accurate diagnosis is dependent on a thorough funduscopic examination, but can be enhanced by imaging information garnered from optical coherence tomography (OCT). We review common congenital optic nerve anomalies, including optic disc pit, optic nerve coloboma, morning glory disc anomaly, and hypoplasia of the optic nerve, review their systemic associations, and discuss insights from OCT imaging...
August 16, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28817385/novel-molecular-defects-associated-with-very-early-onset-inflammatory-bowel
#9
Sara Ciullini Mannurita, Eleonora Gambineri
PURPOSE OF REVIEW: Immune dysregulation disorders present with common clinical features of multiorgan autoimmunity. Gastrointestinal involvement is the hallmark of an impaired immune homeostasis. This review will give an overview on the novel phenotypes, highlighting the major points that will help to enable early diagnosis and treatment. RECENT FINDINGS: The rapid progress on DNA sequencing technologies have led to the identification of monogenic defects that adversely impact the control of immune homeostasis...
August 16, 2017: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28817360/closing-the-gap-mouse-models-to-study-adhesion-in-secondary-palatogenesis
#10
K J Lough, K M Byrd, D C Spitzer, S E Williams
Secondary palatogenesis occurs when the bilateral palatal shelves (PS), arising from maxillary prominences, fuse at the midline, forming the hard and soft palate. This embryonic phenomenon involves a complex array of morphogenetic events that require coordinated proliferation, apoptosis, migration, and adhesion in the PS epithelia and underlying mesenchyme. When the delicate process of craniofacial morphogenesis is disrupted, the result is orofacial clefting, including cleft lip and cleft palate (CL/P). Through human genetic and animal studies, there are now hundreds of known genetic alternations associated with orofacial clefts; so, it is not surprising that CL/P is among the most common of all birth defects...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28817352/arhgap29-mutation-is-associated-with-abnormal-oral-epithelial-adhesions
#11
B J Paul, K Palmer, J C Sharp, C H Pratt, S A Murray, M Dunnwald
Nonsyndromic cleft lip and/or palate (NSCL/P) is a prevalent birth defect of complex etiology. Previous studies identified mutations in ARHGAP29 associated with an increased risk for NSCL/P. To investigate the effects of ARHGAP29 in vivo, we generated a novel murine allele by inserting a point mutation identified in a patient with NSCL/P. This single-nucleotide variation of ARHGAP29 translates to an early nonsense mutation (K326X), presumably resulting in loss-of-function (LoF). Embryos from Arhgap29(K326X/+) intercrosses were harvested at various time points...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#12
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28817161/biomechanical-evaluation-of-unicortical-stress-risers-of-the-proximal-humerus-associated-with-pectoralis-major-repair
#13
David J Wilson, Brian P Milam, William F Scully, Todd P Balog, Kyong S Min, Christopher S Chen, Bryant G Marchant, Edward D Arrington
Proximal humerus fracture after pectoralis major tendon repair has been recently reported. Although this complication is rare, it may be possible to decrease such risk using newer techniques for myotenodesis. This study was designed to evaluate various unicortical stress risers created at the proximal humeral metadiaphysis during myotenodesis for repair of pectoralis major ruptures. A simulated pectoralis major myotenodesis was performed using fourth-generation Sawbones (N=30). Using previously described anatomic landmarks for the tendinous insertion, 3 repair techniques were compared: bone trough, tenodesis screws, and suture anchors (N=10 each)...
August 17, 2017: Orthopedics
https://www.readbyqxmd.com/read/28817135/using-microct-to-assess-periodontal-regeneration-outcomes-comparison-of-image-based-and-histologic-results-a-case-report
#14
Alberto Rebaudi, Paolo Trisi, Giorgio Pagni, Hom-Lay Wang
The purpose of this study was to compare microcomputed tomography (microCT) and histologic analysis outcomes of a periodontal regeneration of a human defect treated with a polylactic- and polyglycolic-acid copolymer. At 11 months following the grafting procedure, the root with the surrounding periodontal tissues was removed and analyzed using microCT and histologic techniques. The results suggest that microCT three-dimensional analysis may be used in synergy with two-dimensional histologic sections to provide additional information for studying the regeneration outcomes normally reported by histologic biopsies in humans...
September 2017: International Journal of Periodontics & Restorative Dentistry
https://www.readbyqxmd.com/read/28817131/connective-tissue-graft-wall-technique-and-enamel-matrix-derivative-for-the-treatment-of-infrabony-defects-case-reports
#15
Giovanni Zucchelli, Lham Mounssif, Matteo Marzadori, Claudio Mazzotti, Pietro Felice, Martina Stefanini
The present case report describes a modification of the connective tissue graft wall technique with enamel matrix derivative applied to treat deep vertical bony defects. The technique presented uses a palatal incision to gain access to the bony defect. Deep infrabony defects affecting two maxillary central incisors associated with interdental and buccal gingival recession were treated. At 1 year after surgery, 9 and 6 mm of interdental clinical attachment level gain were seen in cases 1 and 2, respectively...
September 2017: International Journal of Periodontics & Restorative Dentistry
https://www.readbyqxmd.com/read/28817128/epithelial-inclusions-following-a-bilaminar-root-coverage-procedure-with-a-subepithelial-connective-tissue-graft-a-histologic-and-clinical-study
#16
Federica Romano, Stefano Perotto, Luca Cricenti, Stefano Gotti, Mario Aimetti
The aim of this study was to histologically examine any epithelial cell inclusions in submerged subepithelial connective tissue graft (SCTG) after clinical healing was achieved. A total of 16 patients with Miller Class I or II gingival recessions were consecutively treated with a bilaminar procedure. At 2 months after surgery, a gingival tissue specimen was harvested from all SCTG-treated sites and stained with hematoxylin-eosin. The histologic evaluation revealed connective tissue in active reorganization without epithelial inclusions in 14 of the 16 tissue specimens...
September 2017: International Journal of Periodontics & Restorative Dentistry
https://www.readbyqxmd.com/read/28817118/altered-marginal-zone-and-innate-like-b-cells-in-aged-senescence-accelerated-samp8-mice-with-defective-igg1-responses
#17
Isabel Cortegano, Mercedes Rodríguez, Isabel Martín, Maria Carmen Prado, Carolina Ruíz, Rafael Hortigüela, Mario Alía, Marçal Vilar, Helena Mira, Eva Cano, Mercedes Domínguez, Belén de Andrés, María Luisa Gaspar
Aging has a strong impact on the activity of the immune system, enhancing susceptibility to pathogens and provoking a predominant pre-inflammatory status, whereas dampening responses to vaccines in humans and mice. Here, we demonstrate a loss of marginal zone B lymphocytes (MZ, CD19(+)CD45R(+)CD21(++)CD23(lo)) and a decrease of naive B cells (CD19(+)IgD(+)), whereas there is an enhancement of a CD19(+)CD45R(lo) innate-like B cell population (B1REL) and the so-called aged B cell compartment (ABC, CD45R(+)CD21(lo)CD23(lo)CD5(-)CD11b(-)) in aged senescence-accelerated (SAMP8) mice but not in aged senescence-resistant (SAMR1) mice...
August 17, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28817111/prospective-cohort-study-for-identification-of-underlying-genetic-causes-in-neonatal-encephalopathy-using-whole-exome-sequencing
#18
Theodora U J Bruun, Caro-Lyne DesRoches, Diane Wilson, Vann Chau, Tadashi Nakagawa, Masahiro Yamasaki, Shinya Hasegawa, Toshiyuki Fukao, Christian Marshall, Saadet Mercimek-Andrews
PurposeNeonatal encephalopathy, which is characterized by a decreased level of consciousness, occurs in 1-7/1,000 live-term births. In more than half of term newborns, there is no identifiable etiological factor. To identify underlying genetic defects, we applied whole-exome sequencing (WES) in term newborns with neonatal encephalopathy as a prospective cohort study.MethodsTerm newborns with neonatal encephalopathy and no history of perinatal asphyxia were included. WES was performed using patient and both parents' DNA...
August 17, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28817079/insight-into-the-mechanism-of-co-oxidation-on-wo%C3%A2-001-surfaces-for-gas-sensing-a-dft-study
#19
Hua Jin, Hegen Zhou, Yongfan Zhang
The mechanism of CO oxidation on the WO₃(001) surface for gas sensing performance has been systematically investigated by means of first principles density functional theory (DFT) calculations. Our results show that the oxidation of CO molecule on the perfect WO₃(001) surface induces the formation of surface oxygen vacancies, which results in an increase of the surface conductance. This defective WO₃(001) surface can be re-oxidized by the O₂ molecules in the atmosphere. During this step, the active O₂(-) species is generated, accompanied with the obvious charge transfer from the surface to O₂ molecule, and correspondingly, the surface conductivity is reduced...
August 17, 2017: Sensors
https://www.readbyqxmd.com/read/28816964/the-rare-axenfeld-rieger-syndrome-with-systemic-anomalies-a-case-report-and-brief-review-of-literature
#20
Wei Song, Xiaodan Hu
RATIONALE: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. PATIENT CONCERNS: A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month. DIAGNOSES: The patient was diagnosed as ARS with retinal detachment based on series of ophthalmic examinations performed. INTERVENTIONS: A pars plana vitrectomy was performed to manage the retinal detachment...
August 2017: Medicine (Baltimore)
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