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https://www.readbyqxmd.com/read/29769514/cleidocranial-dysplasia-presentation-of-clinical-and-radiological-features-of-a-rare-syndromic-entity
#1
R Modgil, K S Arora, A Sharma, S Mohapatra, S Pareek
Cleidocranial dysplasia is a developmental anomaly of the skeleton and the teeth. This condition may be inherited and be transmitted as dominant characteristics in either gender, or may appear spontaneously. It presents with skeletal defects of several bones, such as partial or complete absence of clavicles, late closure of the fontanels, presence of open skull sutures and multiple wormian bones. The dental manifestations are mainly delayed exfoliation of primary teeth and delayed eruption of permanent teeth with multiple impacted supernumerary teeth...
April 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29765016/b-cell-activation-and-plasma-cell-differentiation-are-inhibited-by-de-novo-dna-methylation
#2
Benjamin G Barwick, Christopher D Scharer, Ryan J Martinez, Madeline J Price, Alexander N Wein, Robert R Haines, Alexander P R Bally, Jacob E Kohlmeier, Jeremy M Boss
B cells provide humoral immunity by differentiating into antibody-secreting plasma cells, a process that requires cellular division and is linked to DNA hypomethylation. Conversely, little is known about how de novo deposition of DNA methylation affects B cell fate and function. Here we show that genetic deletion of the de novo DNA methyltransferases Dnmt3a and Dnmt3b (Dnmt3-deficient) in mouse B cells results in normal B cell development and maturation, but increased cell activation and expansion of the germinal center B cell and plasma cell populations upon immunization...
May 15, 2018: Nature Communications
https://www.readbyqxmd.com/read/29761710/who-s-the-boss-determining-the-control-pathways-of-cardiovascular-and-cellular-immune-responses-to-acute-stress
#3
Kate M Edwards, Nathan B Morris
Acute stress responses are known to include increases in heart rate and blood pressure, as well as increases in the number of circulating immune cells, all of which are governed by the autonomic nervous system. This laboratory practical measures cardiovascular and circulating immune cell responses to a passive (cold pressor) and active (mental arithmetic) acute stress task in student participants. The results allow them to examine the different patterns of autonomic response they elicit (approximated by heart rate and blood pressure responses), and knowledge of these responses can then be used to infer the governing autonomic aspect of the increases in circulating immune cells from the results...
June 1, 2018: Advances in Physiology Education
https://www.readbyqxmd.com/read/29753483/sanitation-of-staphylococcus-aureus-genotype-b-positive-dairy-herds-a-field-study
#4
C Sartori, R Boss, M Bodmer, A Leuenberger, I Ivanovic, H U Graber
Staphylococcus aureus is one of the most widespread mastitis pathogens infecting dairy cattle worldwide. In Switzerland, different bovine genotypes of Staph. aureus have been identified, and genotype B (GTB) was demonstrated to be a highly contagious subtype, causing herd problems in cattle. As the efficacy of antibiotic therapy against Staph. aureus is not satisfactory, the most promising strategy for controlling this udder pathogen is the implementation of specific sanitation programs for affected farms. The aim of the present longitudinal study was the field evaluation of 2 analytical approaches for the sanitation of Staph...
May 9, 2018: Journal of Dairy Science
https://www.readbyqxmd.com/read/29752200/distinctive-facies-macrocephaly-and-developmental-delay-are-signs-of-a-pten-mutation-in-childhood
#5
Kohji Kato, Seiji Mizuno, Mie Inaba, Shinobu Fukumura, Naoko Kurahashi, Koichi Maruyama, Daisuke Ieda, Kei Ohashi, Ikumi Hori, Yutaka Negishi, Ayako Hattori, Shinji Saitoh
BACKGROUND: Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clinical features present during childhood in patients with a PTEN mutation are yet to be elucidated. METHODS: PTEN mutations were investigated by multiplex targeted sequencing of genomic DNA from 33 children with increased head circumference (>+2 SD) and developmental delay...
May 8, 2018: Brain & Development
https://www.readbyqxmd.com/read/29751362/low-prevalence-of-palliative-care-and-ethics-consultations-for-children-with-chronic-critical-illness
#6
Renee D Boss, Alison Falck, Naomi Goloff, Nancy Hutton, Alison Miles, Miriam Shapiro, Elliott M Weiss, Pamela K Donohue
Medical advances over the past two decades have increased the numbers of children who survive serious conditions. Mortality from premature birth and genetic syndromes has improved such that more clinicians offer, and more families request, interventions to prolong their child's life. While some interventions promise cure, others result in chronic disease states that require ongoing medical care. This article is protected by copyright. All rights reserved.
May 11, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29748390/the-clinical-activity-of-pd-1-pd-l1-inhibitors-in-metastatic-non-clear-cell-renal-cell-carcinoma
#7
Rana R McKay, Dominick Bossé, Wanling Xie, Stephanie A M Wankowicz, Abdallah Flaifel, Raphael Brandao, Aly-Khan Lalani, Dylan J Martini, Xiao X Wei, David A Braun, Eliezer M Van Allen, Daniel Castellano, Guillermo de Velasco, J Connor Wells, Daniel Y C Heng, Andre P Fay, Fabio A Schutz, JoAnn Hsu, Sumanta Kumar Pal, Jae-Lyun Lee, James Hsieh, Lauren C Harshman, Sabina Signoretti, Robert J Motzer, Darren R Feldman, Toni K Choueiri
Programmed death 1 (PD-1) and PD ligand 1 (PD-L1) inhibitors have shown activity in metastatic clear cell renal cell carcinoma (ccRCC). Data on the activity of these agents in patients with non-clear cell RCC (nccRCC) or patients with sarcomatoid/rhabdoid differentiation is limited. In this multicenter analysis, we explored the efficacy of PD-1/PD-L1 inhibitors in patients with nccRCC or sarcomatoid/rhabdoid differentiation. Baseline and follow-up demographic, clinical, treatment, and radiographic data were collected...
May 10, 2018: Cancer Immunology Research
https://www.readbyqxmd.com/read/29745896/neolithic-and-medieval-virus-genomes-reveal-complex-evolution-of-hepatitis-b
#8
Ben Krause-Kyora, Julian Susat, Felix M Key, Denise Kühnert, Esther Bosse, Alexander Immel, Christoph Rinne, Sabin-Christin Kornell, Diego Yepes, Sören Franzenburg, Henrike O Heyne, Thomas Meier, Sandra Lösch, Harald Meller, Susanne Friederich, Nicole Nicklisch, Kurt W Alt, Stefan Schreiber, Andreas Tholey, Alexander Herbig, Almut Nebel, Johannes Krause
The hepatitis B virus (HBV) is one of the most widespread human pathogens known today, yet its origin and evolutionary history are still unclear and controversial. Here, we report the analysis of three ancient HBV genomes recovered from human skeletons found at three different archaeological sites in Germany. We reconstructed two Neolithic and one medieval HBV genomes by de novo assembly from shotgun DNA sequencing data. Additionally, we observed HBV-specific peptides using paleo-proteomics. Our results show that HBV circulates in the European population for at least 7000 years...
May 10, 2018: ELife
https://www.readbyqxmd.com/read/29743805/outcomes-after-endoscopic-dilation-of-laryngotracheal-stenosis-an-analysis-of-acs-nsqip
#9
Avni Bavishi, Emily Boss, Rahul K Shah, Jennifer Lavin
Importance: Endoscopic management of pediatric subglottic stenosis (SGS) is common, however no multi-institutional studies have assessed its perioperative outcomes. The American College of Surgeon's National Surgical Quality Improvement Program - Pediatric (ACS-NSQIP-P) represents a source of such data. Design: Current procedural terminology (CPT) codes were queried for endoscopic or open airway reconstruction in the ACS-NSQIP-P Public Use File (PUF). Demographics and 30-day events were abstracted to compare open to endoscopic techniques and to assess for risk factors for varied outcomes after endoscopic dilation...
March 2018: Journal of Clinical Outcomes Management: JCOM
https://www.readbyqxmd.com/read/29741662/physical-and-functional-interplay-between-pcna-dna-clamp-and-mre11-rad50-complex-from-the-archaeon-pyrococcus-furiosus
#10
Gaëlle Hogrel, Yang Lu, Sébastien Laurent, Etienne Henry, Clarisse Etienne, Duy Khanh Phung, Rémi Dulermo, Audrey Bossé, Pierre-François Pluchon, Béatrice Clouet-d'Orval, Didier Flament
Several archaeal species prevalent in extreme environments are particularly exposed to factors likely to cause DNA damages. These include hyperthermophilic archaea (HA), living at temperatures >70°C, which arguably have efficient strategies and robust genome guardians to repair DNA damage threatening their genome integrity. In contrast to Eukarya and other archaea, homologous recombination appears to be a vital pathway in HA, and the Mre11-Rad50 complex exerts a broad influence on the initiation of this DNA damage response process...
May 8, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29735285/fronto-orbital-feminization-technique-a-surgical-strategy-using-fronto-orbital-burring-with-or-without-eggshell-technique-to-optimize-the-risk-benefit-ratio
#11
A Villepelet, A Jafari, B Baujat
The demand for facial feminization is increasing in transsexual patients. Masculine foreheads present extensive supraorbital bossing with a more acute glabellar angle, whereas female foreheads show softer features. The aim of this article is to describe our surgical technique for fronto-orbital feminization. The mask-lift technique is an upper face-lift. It provides rejuvenation by correcting collapsed features, and fronto-orbital feminization through burring of orbital rims and lateral canthopexies. Depending on the size of the frontal sinus and the thickness of its anterior wall, frontal remodeling is achieved using simple burring or by means of the eggshell technique...
May 4, 2018: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/29731442/effect-of-aerobic-exercise-combined-with-ginkgo-polysaccharide-on-weight-blood-glucose-and-glycosylated-serum-protein-in-diabetic-rats
#12
Rongkun Zhu, Jun Xie
Streptozotocin copied diabetic rats model were studied through aerobic exercise combined with ginkgo polysaccharide. Aimed to offering the updating experimental basis to prevent diabetic through aerobic exercise combined with ginkgo polysaccharide, the effect of aerobic exercise combined with ginkgo polysaccharide were discussed on the weight, blood glucose, glucosylated serum protein and the secretion ability of islet β cells, oral glucose tolerance test, islet cell pathological morophological changes and positive expression of Bax and Bcl-2...
May 2018: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29726894/dna-methylation-of-a-plpp3-mir-transposon-based-enhancer-promotes-an-osteogenic-program-in-calcific-aortic-valve-disease
#13
Ghada Mkannez, Valérie Gagné-Ouellet, Mohamed Jalloul Nsaibia, Marie-Chloé Boulanger, Mickael Rosa, Deborah Argaud, Fayez Hadji, Nathalie Gaudreault, Gabrielle Rhéaume, Luigi Bouchard, Yohan Bossé, Patrick Mathieu
Aims: Calcific aortic valve disease (CAVD) is characterized by the osteogenic transition of valve interstitial cells (VICs). In CAVD, lysophosphatidic acid (LysoPA), a lipid mediator with potent osteogenic activity, is produced in the aortic valve (AV) and is degraded by membrane-associated phospholipid phosphatases (PLPPs). We thus hypothesized that a dysregulation of PLPPs could participate to the osteogenic reprograming of VICs during CAVD. Methods and Results: The expression of PLPPs was examined in human control and mineralized AVs and comprehensive analyses were performed to document the gene regulation and impact of PLPPs on the osteogenic transition of VICs...
May 2, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/29717136/ancient-dna-study-reveals-hla-susceptibility-locus-for-leprosy-in-medieval-europeans
#14
Ben Krause-Kyora, Marcel Nutsua, Lisa Boehme, Federica Pierini, Dorthe Dangvard Pedersen, Sabin-Christin Kornell, Dmitriy Drichel, Marion Bonazzi, Lena Möbus, Peter Tarp, Julian Susat, Esther Bosse, Beatrix Willburger, Alexander H Schmidt, Jürgen Sauter, Andre Franke, Michael Wittig, Amke Caliebe, Michael Nothnagel, Stefan Schreiber, Jesper L Boldsen, Tobias L Lenz, Almut Nebel
Leprosy, a chronic infectious disease caused by Mycobacterium leprae (M. leprae), was very common in Europe till the 16th century. Here, we perform an ancient DNA study on medieval skeletons from Denmark that show lesions specific for lepromatous leprosy (LL). First, we test the remains for M. leprae DNA to confirm the infection status of the individuals and to assess the bacterial diversity. We assemble 10 complete M. leprae genomes that all differ from each other. Second, we evaluate whether the human leukocyte antigen allele DRB1*15:01, a strong LL susceptibility factor in modern populations, also predisposed medieval Europeans to the disease...
May 1, 2018: Nature Communications
https://www.readbyqxmd.com/read/29716037/validation-of-the-particle-size-distribution-obtained-with-the-laser-in-situ-scattering-and-transmission-lisst-meter-in-flow-through-mode
#15
Emmanuel Boss, Nils Haëntjens, Toby K Westberry, Lee Karp-Boss, Wayne H Slade
High spatial and temporal resolution estimates of the particle size distribution (PSD) in the surface ocean can enable improved understanding of biogeochemistry and ecosystem dynamics. Oceanic PSD measurements remain rare due to the time-consuming, manual sampling methods of common particle sizing instruments. Here, we evaluate the utility of measuring particle size data at high spatial resolution with a commercially-available submersible laser diffraction particle sizer (LISST-100X, Sequoia Scientific), operating in an automated mode with continuously flowing seawater...
April 30, 2018: Optics Express
https://www.readbyqxmd.com/read/29713740/radiogenomics-in-renal-cell-carcinoma
#16
Francesco Alessandrino, Atul B Shinagare, Dominick Bossé, Toni K Choueiri, Katherine M Krajewski
Radiogenomics, a field of radiology investigating the association between the imaging features of a disease and its gene expression pattern, has expanded considerably in the last few years. Recent advances in whole-genome sequencing of clear cell renal cell carcinoma (ccRCC) and the identification of mutations with prognostic significance have led to increased interest in the relationship between imaging and genomic data. ccRCC is particularly suitable for radiogenomic analysis as the relative paucity of mutated genes allows for more straightforward genomic-imaging associations...
April 30, 2018: Abdominal Radiology
https://www.readbyqxmd.com/read/29708209/magnetisation-transfer-as-a-biomarker-for-chronic-airway-fibrosis-in-a-mouse-lung-transplantation-model
#17
David Kenkel, Yoshito Yamada, Markus Weiger, Moritz C Wurnig, Wolfgang Jungraithmayr, Andreas Boss
Background: Chronic airway fibrosis (CAF) is the most prevalent complication in human lung transplant recipients. The aim of the study is to evaluate magnetisation transfer (MT) as a biomarker of developing CAF of lung transplants in a mouse model. Methods: Lung transplantation was performed in 48 mice, applying major or minor histocompatibility mismatches between strains for the induction of CAF. MT measurements were performed in vivo with systematic variation of off-resonance frequencies and flip angle of the MT prepulse...
2018: European radiology experimental
https://www.readbyqxmd.com/read/29708135/meet-the-new-boss-lung-cancer-staging
#18
EDITORIAL
Abbie Begnaud, Robert A Kratzke
No abstract text is available yet for this article.
March 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29704557/mabfilin-and-fabfilin-new-antibody-scaffold-fusion-formats-for-multispecific-targeting-concepts
#19
Mathias Kahl, Florian Settele, Paul Knick, Ulrich Haupts, Eva Bosse-Doenecke
Protein based binding molecules have a broad applicability from therapeutic to technical use. Monoclonal antibodies represent the major class of this type of agents complemented by innovative approaches using scaffold proteins with tailor-made properties. Various concepts for new formats combining antibody chains or antibody fragments and fusions with other entities have been developed recently. This strategy opens up options to design molecules with biophysical, biochemical and pharmacological characteristics in a broad range while simultaneously addressing several targets or epitopes...
April 25, 2018: Protein Expression and Purification
https://www.readbyqxmd.com/read/29703886/plasma-cell-differentiation-is-controlled-by-multiple-cell-division-coupled-epigenetic-programs
#20
Christopher D Scharer, Benjamin G Barwick, Muyao Guo, Alexander P R Bally, Jeremy M Boss
The genomic loci associated with B cell differentiation that are subject to transcriptional and epigenetic regulation in vivo are not well defined, leaving a gap in our understanding of the development of humoral immune responses. Here, using an in vivo T cell independent B cell differentiation model, we define a cellular division-dependent cis-regulatory element road map using ATAC-seq. Chromatin accessibility changes correlate with gene expression and reveal the reprogramming of transcriptional networks and the genes they regulate at specific cell divisions...
April 27, 2018: Nature Communications
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