Ultradeep targeted sequencing of circulating tumor DNA in plasma of early and advanced breast cancer
Abstract We present a study to evaluate the feasibility and clinical utility of amplicon‐based Oncomine Pan‐Cancer cell‐free assay to detect circulating tumor DNA (ctDNA) in patients with early or advanced breast cancer. In this study, 109 early and metastatic breast cancer patients were recruited before the initiation of treatment. ctDNA mutation profiles were assessed through unique molecular tagging (UMT) and ultra‐deep NGS. For patients with mutations, DNA from corresponding white blood cells...
Mon Oct 19, 2020 21:33
Abstract FMS‐like tyrosine kinase 3 (FLT3) plays a key role in hematopoiesis. However, the oncogenic role of FLT3 amplification in patients with metastatic colorectal cancer (mCRC) remains unclear. Here, we aimed to evaluate the characteristics, prognosis, and treatment efficacy of an FLT3 inhibitor (regorafenib) in patients with mCRC with FLT3 amplifications. Tumor tissue samples from 2,329 patients were sequenced using next‐generation sequencing in the Nationwide Cancer Genome Screening Project...
Mon Oct 19, 2020 21:33
Abstract Non‐Hodgkin lymphoma (NHL) treated with chemoimmunotherapy has limited efficacy in some patients, resulting in relapsed or refractory disease. Avadomide (CC‐122) is a novel cereblon‐binding agent that exhibits antilymphoma and immune‐modulation activities with a biological profile distinct from similar agents, such as lenalidomide. This phase I multicenter study evaluated avadomide in Japanese patients with advanced solid tumors or NHL. Fourteen patients with NHL and 1 with a solid tumor...
Mon Oct 19, 2020 21:31
Tue Oct 20, 2020 11:25
Publication date: November 2020Source: Archives of Oral Biology, Volume 119Author(s):
Tue Oct 20, 2020 18:31
Publication date: Available online 19 October 2020Source: Archives of Oral BiologyAuthor(s): Bharti Gupta, Shekhar Gupta, Minal Chaudhary, A. Thirumal Raj, Shankargouda Patil
Tue Oct 20, 2020 18:31
Publication date: Available online 20 October 2020Source: Brain Research BulletinAuthor(s): Bárbara B. Garrido-Suárez, Gabino Garrido, Marian Castro-Labrada, Nelson Merino, Odalys Valdés, Zenia Pardo, Estael Ochoa-Rodríguez, Yamila Verdecia-Reyes, René Delgado-Hernández, Jozi Godoy-Figuereido, Sergio H. Ferreira
Tue Oct 20, 2020 18:29
Publication date: Available online 20 October 2020Source: Brain Research BulletinAuthor(s): Xiumei Xu, Baoe Liu, Jingjian Yang, Yuting Zou, Minghao Sun, Zijing Li, Lin Li, Runan Yang, Lifang Zou, Guilin Li, Shuangmei Liu, Guodong Li, Shangdong Liang
Tue Oct 20, 2020 18:29
Publication date: Available online 19 October 2020Source: Academic RadiologyAuthor(s): Daniel M. DePietro, Sarah E. Santucci, Neil E. Harrison, Ryan M. Kiefer, Scott O. Trerotola, Deepak Sudheendra, Susan Shamimi-Noori
Tue Oct 20, 2020 18:13
Publication date: Available online 19 October 2020Source: Academic RadiologyAuthor(s): Sedat Giray Kandemirli, Aytug Altundag, Duzgun Yildirim, Deniz Esin Tekcan Sanli, Ozlem Saatci
Tue Oct 20, 2020 18:13
Publication date: November 2020Source: European Journal of Cancer, Volume 140Author(s): Orazio Caffo, Donatello Gasparro, Giuseppe Di Lorenzo, Alberto Dalla Volta, Pamela Guglielmini, Paolo Zucali, Roberto Bortolus, Alessia Cavo, Giovanni Ceresoli, Rita Chiari, Giuseppe Fornarini, Lucia Fratino, Alessandro Iaculli, Marco Maruzzo, Cristina Masini, Franco Morelli, Claudia Mucciarini, Giuseppe Procopio, Roberto Sabbatini, Elena Verri
Tue Oct 20, 2020 18:10
Abstract The year 2020 brought us one of the biggest pandemics of the new era. During January of this year, the World Health Organization (WHO) declared the outbreak of coronavirus 2 (SARS‐CoV‐2) disease (COVID‐19) a global health emergency due the fast spread, severe respiratory implications, high mortality and the catastrophic effects in social and economic life around the world [1]. Almost 30 years earlier, Tuberculosis (TB) was also declared as a global emergency [2], but this one had low relevance...
Tue Oct 20, 2020 11:25
Publication date: Available online 20 October 2020Source: Gait & PostureAuthor(s): Frank E. DiLiberto, Deborah A. Nawoczenski, Josh Tome, Patrick O. McKeon
Tue Oct 20, 2020 18:08
Publication date: Available online 19 October 2020Source: Cancer EpidemiologyAuthor(s): Tomoyuki Kawada
Tue Oct 20, 2020 18:06
Abstract According to Article 12 of Regulation (EC) No 396/2005, EFSA has reviewed the maximum residue levels (MRLs) currently established at European level for the pesticide active substance oxyfluorfen. To assess the occurrence of oxyfluorfen residues in plants, processed commodities, rotational crops and livestock, EFSA considered the conclusions derived in the framework of Commission Regulation (EC) No 33/2008, as well as the European authorisations reported by Member States (including the supporting...
Mon Oct 19, 2020 12:07
Abstract Following a request from the European Commission, the EFSA Panel on Nutrition, Novel Foods and Food Allergens (NDA) was asked to deliver an opinion on the safety of Schizochytrium sp. oil as a novel food (NF) pursuant to Regulation (EU) 2015/2283. Schizochytrium sp. is a single‐cell microalga. The strain WZU477, used by the applicant (Progress Biotech bv), was found to belong to the species Schizochytrium limacinum and was obtained in a marine environment from rotted mangrove forest leaves....
Mon Oct 19, 2020 12:07
Tue Oct 20, 2020 12:00
Abstract Insulin‐like growth factor‐II mRNA‐binding protein 3 (IMP‐3), which is a member of the insulin‐like growth factor mRNA‐binding protein family, is expressed at high levels in many types of cancer, where it plays an important role in cell proliferation, as well as in the processes of invasion, migration and metastasis. Its expression has also been demonstrated in malignant melanoma, but not in other benign skin lesions, which has raised the possibility of using it as a predictive and prognosis...
Mon Oct 19, 2020 22:09
ABSTRACT Cutaneous adverse effects (AE) related to tyrosine‐kinase inhibitor (TKI) drugs have been mainly described as case reports. We have characterized their appearance and correlation with patient's photoexposition habits and, further, with treatment response, in 61 patients with chronic myelogenous leukemia (CML) treated with TKI drugs. We have found hypopigmentation in 49.2% of the cases and a statistically significant association with interferon (IFN) intake. Eyelid edema's frequency was...
Mon Oct 19, 2020 11:25
Publication date: Available online 20 October 2020Source: Ultrasound in Medicine & BiologyAuthor(s): Babak Nazer, David Giraud, Yan Zhao, Yue Qi, O'Neil Mason, Peter D. Jones, Chris J. Diederich, Edward P. Gerstenfeld, Jonathan R. Lindner
Tue Oct 20, 2020 17:48
Abstract Introduction The purpose of this study was to investigate the prognostic utility and reproducibility of a qualitative 5‐point 18‐fluorodeoxyglucose (FDG)‐PET primary visual score (PVS) in patients with oesophageal and gastro‐oesophageal junction (GOJ) cancer. Methods This was a retrospective review of patients with histologically proven oesophageal or GOJ cancer who received curative intent therapy. Clinical, pathological and imaging data were extracted from electronic medical...
Thu Oct 15, 2020 21:06
Publication date: December 2020Source: Medical Hypotheses, Volume 145Author(s): Thodur Madapusi Balaji, Saranya Varadarajan, Raghunathan Jagannathan, A. Thirumal Raj, Lakshmi Priya Sridhar, Shankaragouda Patil
Tue Oct 20, 2020 17:33
Publication date: December 2020Source: Medical Hypotheses, Volume 145Author(s): Iain Campbell, Harry Campbell
Tue Oct 20, 2020 17:33
Publication date: Available online 20 October 2020Source: Critical Reviews in Oncology/HematologyAuthor(s): Hanno Riess, Peter Verhamme, Jeffrey I. Weitz, Annie Young, Rupert Bauersachs, Jan Beyer-Westendorf, Mark Crowther, Anthony Maraveyas
Tue Oct 20, 2020 17:33
Publication date: Available online 20 October 2020Source: Critical Reviews in Oncology/HematologyAuthor(s): Chuangang Li, Yongyi Li, Yufeng Lu, Zhaorui Niu, Henan Zhao, Yan Peng, Molin Li
Tue Oct 20, 2020 17:33
Publication date: Available online 19 October 2020Source: Critical Reviews in Oncology/HematologyAuthor(s): Anna Zielińska, Marcin Włodarczyk, Adam Makaro, Maciej Sałaga, Jakub Fichna
Tue Oct 20, 2020 17:33
Publication date: Available online 19 October 2020Source: Critical Reviews in Oncology/HematologyAuthor(s): Riccardo Ponzone
Tue Oct 20, 2020 17:33
71 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results: "Front Oncol"[jour] These pubmed results were generated on 2020/10/20PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Tue Oct 20, 2020 17:29
Publication date: Available online 19 October 2020Source: Archives of Physical Medicine and RehabilitationAuthor(s): Rasmus K. Hansen, Ryan G. Larsen, Uffe Laessoe, Afshin Samani, Rachel E. Cowan
Tue Oct 20, 2020 17:21
Abstract Objectives Percutaneous bone anchored hearing devices (pBAHDs) are the most commonly used bone conduction implants (BCI). Concerns surround the long‐term complications, notably skin‐related, in patients with percutaneous abutments. The active transcutaneous BCI Bonebridge system can help avoid some of these pitfalls but is often considered a second line option due to various factors including perceived increased overall costs. Design Longitudinal economic analysis of Bonebridge...
Sat Oct 17, 2020 17:45
Abstract Introduction This review discusses how nasal congestion may have benefits as a mechanism of defence against respiratory viruses. Methods A literature research was conducted on respiratory viruses and nasal congestion, following a recently published review on how temperature sensitivity is important for the success of common respiratory viruses. Results The literature reported that common respiratory viruses are temperature sensitive and replicate well at the cooler temperatures...
Fri Oct 16, 2020 18:45
Publication date: Available online 19 October 2020Source: Sleep MedicineAuthor(s): Giovanni Migliarese, Sara Torriero, Camilla Gesi, Viviana Venturi, Yacob Reibman, Giancarlo Cerveri, Greta Decaroli, Paola Ricciardelli, Claudio Mencacci
Tue Oct 20, 2020 17:11
Effects of post-renal anemia treatment with the HIF-PHD inhibitor molidustat on adenine-induced renal anemia and kidney disease in mice. J Pharmacol Sci. 2020 Dec;144(4):229-236 Authors: Li L, Nakano D, Zhang A, Kittikulsuth W, Morisawa N, Ohsaki H, Suzuki N, Yamamoto M, Nishiyama A Abstract The kidneys are the major organs for erythropoietin (EPO) production in adults, and thus, kidney damage results in reduced EPO levels and anemia. Inhibitors...
Tue Oct 20, 2020 16:52
Publication date: Available online 20 October 2020Source: Journal of Allergy and Clinical ImmunologyAuthor(s): Esmee K. van der Ploeg, Maud A.W. Hermans, Vincent H.J. van der Velden, Wim A. Dik, Paul L.A. van Daele, Ralph Stadhouders
Tue Oct 20, 2020 16:40
Publication date: Available online 19 October 2020Source: Journal of Allergy and Clinical ImmunologyAuthor(s): Howard H.F. Tang, Anna Lang, Shu Mei Teo, Louise M. Judd, Ronald Gangnon, Michael D. Evans, Kristine E. Lee, Rose Vrtis, Patrick G. Holt, Robert F. Lemanske, Daniel J. Jackson, Kathryn E. Holt, Michael Inouye, James E. Gern
Tue Oct 20, 2020 16:40
Publication date: Available online 19 October 2020Source: International Journal of PsychophysiologyAuthor(s): Annie T. Ginty, Alexandra T. Tyra, Danielle A. Young, Neha A. John-Henderson, Stephen Gallagher, Jo-Ann C. Tsang
Tue Oct 20, 2020 16:38
In this cross‐sectional study, the prevalences of tooth loss, prosthetic dental restorations, and probing pocket depths (PPDs) of ≥4 mm, and their relationship to sociodemographic factors, were investigated in older Swiss adults. There were up to 1,673 participants aged ≥55 yr in the fourth survey of the Swiss Cohort Study on Air Pollution And Lung And Heart Disease In Adults (SAPALDIA4). Missing teeth, prosthetic dental restorations, and PPDs ≥4 mm were recorded in clinical examinations conducted...
Sun Oct 18, 2020 17:38
Publication date: Available online 20 October 2020Source: Annals of Allergy, Asthma & ImmunologyAuthor(s): Kanwaljit K. Brar
Tue Oct 20, 2020 16:36
Background NTRK‐rearranged thyroid carcinomas (NRTC), though rare, harbor a potential therapeutic target. The cytomorphologic features by fine needle aspiration (FNA) and the utility of preoperative molecular testing for NRTC remain largely uncharacterized. We provide a detailed cytomorphologic analysis of an institutional NRTC cohort with clinical, radiologic, histopathologic, and molecular correlations. Methods Our NRTC FNA cohort included 21 specimens from 19 patients. The mean age and...
Mon Oct 19, 2020 18:00
Abstract BackgroundExisting surgical navigation approaches of the rod bending procedure in spinal fusion rely on optical tracking systems that determine the location of placed pedicle screws using a hand‐held marker.MethodsWe propose a novel, marker‐less surgical navigation proof‐of‐concept to bending rod implants. Our method combines augmented reality with on‐device machine learning to generate and display a virtual template of the optimal rod shape without touching the instrumented anatomy. Performance...
Mon Oct 19, 2020 14:26
Publication date: Available online 20 October 2020Source: European Annals of Otorhinolaryngology, Head and Neck DiseasesAuthor(s): M. Fieux, F. Podeur, S. Tringali
Tue Oct 20, 2020 16:32
Publication date: Available online 19 October 2020Source: European Annals of Otorhinolaryngology, Head and Neck DiseasesAuthor(s): P. Reynard, A. Bascoul, D. Biotti, J. Karsenty, E. Ionescu, H. Thai-Van
Tue Oct 20, 2020 16:32
Publication date: Available online 19 October 2020Source: European Annals of Otorhinolaryngology, Head and Neck DiseasesAuthor(s): M. Fieux, S. Zaouche, P. Philouze, E. Truy, R. Hermann, S. Tringali
Tue Oct 20, 2020 16:32
Publication date: December 2020Source: Clinical Neurology and Neurosurgery, Volume 199Author(s): Hannah Benkert, Sanchita Bhatia, Anastasia Mirza-Davies, Zhao Xuan Tan, Judith R. Harrison
Tue Oct 20, 2020 16:27
Publication date: December 2020Source: Clinical Neurology and Neurosurgery, Volume 199Author(s): Rocio Mamani, Javier A. Jacobo, Sonia Mejia, Santiago Nuñez-Velasco, Jorge Aragon-Arreola, Sergio Moreno
Tue Oct 20, 2020 16:27
Publication date: December 2020Source: Clinical Neurology and Neurosurgery, Volume 199Author(s): Klaus Zweckberger, Henrik Giese, Benjamin Haenig, Philippe A. Federspil, Ingo Baumann, Tobias Albrecht, Matthias Uhl, Andreas Unterberg
Tue Oct 20, 2020 16:27
Publication date: December 2020Source: Clinical Neurology and Neurosurgery, Volume 199Author(s): Roberto Bomprezzi, Andrew P. Chen, Christopher C. Hemond
Tue Oct 20, 2020 16:27
Reprocessing N95s with Hydrogen peroxide vaporization: A robust system from collection to dispensing
Publication date: Available online 20 October 2020Source: American Journal of Infection ControlAuthor(s): Caitlin McVey Weinheimer, Misti Ellsworth, Lance Ferguson, Kelley Boston, Brett Haltiwanger, Scott Pavlovitch, Mindy Warren, Bela Patel, Jeffrey Katz, Luis Ostrosky-Zeichner
Tue Oct 20, 2020 16:25
Publication date: Available online 20 October 2020Source: American Journal of Infection ControlAuthor(s): Meredith McQuerry, Elizabeth Easter, Alex Cao
Tue Oct 20, 2020 16:25
Publication date: Available online 20 October 2020Source: American Journal of Infection ControlAuthor(s): Sainfer Aliyu, Allison Norful, Krista Schroeder, Michelle Odlum, Bonnie Glica, Jasmine Travers
Tue Oct 20, 2020 16:25
Publication date: Available online 20 October 2020Source: American Journal of Infection ControlAuthor(s): Alysha Crocker, Anna Kornilo, John Conly, Elizabeth Henderson, Elissa Rennert-May, Jenine Leal
Tue Oct 20, 2020 16:25
Objective To assess the association between migraine and cryptogenic ischemic stroke (CIS) in young adults, with subgroup analyses stratified by sex and presence of patent foramen ovale (PFO). Methods We prospectively enrolled 347 consecutive patients aged 18‐49 with a recent CIS and 347 age‐ and sex‐matched (±5 years) stroke‐free controls. Any migraine and migraine with (MA) and migraine without aura (MO) were identified by a screener, which we validated against a headache‐neurologist. We...
Mon Oct 19, 2020 19:16
Publication date: Available online 20 October 2020Source: Computer Speech & LanguageAuthor(s): Anderson R. Avila, Jahangir Alam, Fabiano O. Costa Prado, Douglas O’Shaughnessy, Tiago H. Falk
Tue Oct 20, 2020 16:21
Single‐cell molecular profiling provides a high‐resolution map of basophil and mast cell development
Abstract Background Basophils and mast cells contribute to the development of allergic reactions. Whereas these mature effector cells are extensively studied, the differentiation trajectories from hematopoietic progenitors to basophils and mast cells are largely uncharted at the single‐cell level. Methods We performed multicolor flow cytometry, high‐coverage single‐cell RNA sequencing analyses, and cell fate assays to chart basophil and mast cell differentiation at single‐cell resolution...
Tue Oct 20, 2020 16:20
Summary Background CRS is regarded as a chronic airway disease. According to WHO recommendations, it may be a risk factor for COVID‐19 patients. In most CRSwNP cases, the inflammatory changes affecting the nasal and paranasal mucous membranes are type‐2 (T2) inflammation endotypes. Methods The current knowledge on COVID‐19 and on treatment options for CRS was analyzed by a literature search in Medline, Pubmed, international guidelines, the Cochrane Library and the Internet. Results...
Mon Oct 19, 2020 21:33
Abstract Background As an evidence resource for the currently planned European Academy of Allergy and Clinical Immunology (EAACI) clinical practice guideline “systemic treatment of atopic dermatitis (AD)” we critically appraised evidence on systemic treatments for moderate‐to‐severe AD. Methods We systematically identified randomized controlled trials (RCTs) investigating the safety and efficacy of systemic treatments for AD up to February 2020. Primary efficacy outcomes were clinical signs,...
Mon Oct 19, 2020 17:03
Food protein-induced allergic proctocolitis in infants: Literature review and proposal of a management protocol. World Allergy Organ J. 2020 Oct;13(10):100471 Authors: Mennini M, Fiocchi AG, Cafarotti A, Montesano M, Mauro A, Villa MP, Di Nardo G Abstract Food protein-induced allergic proctocolitis (FPIAP) is a condition characterized by inflammatory changes in the distal colon in response to one or more foreign food proteins because of...
Tue Oct 20, 2020 16:14
Enhancing innate immunity against virus in times of COVID-19: trying to untangle facts from fictions. World Allergy Organ J. 2020 Oct 09;:100476 Authors: Larenas-Linnemann D, Rodríguez-Pérez N, Arias-Cruz A, Blandón-Vijil MV, Del-Río-Navarro BE, Estrada-Cardona A, Gereda JE, Luna-Pech JA, Navarrete-Rodríguez EM, Onuma-Takane E, Pozo-Beltrán CF, Rojo-Gutiérrez MI Abstract Introduction: In the light of the current COVID-19 pandemic, during...
Tue Oct 20, 2020 16:14
Objectives/Hypothesis The literature on outcomes of end‐to‐side (ETS) anastomoses for microvascular reconstruction of the head and neck is limited. This series reviews ETS in free tissue transfer (FTT) across multiple institutions to better understand their usage and associated outcomes. Study Design Retrospective review of 2482 consecutive patients across three tertiary institutions. Methods Adult patients (> 18) who received a FTT from 2006 to 2019 were included. Results Two...
Mon Oct 19, 2020 14:17
Publication date: Available online 20 October 2020Source: Journal of VoiceAuthor(s): Asha K. Joy, Ajay Philip, Suma Susan Mathews, Rita Ruby A Albert
Tue Oct 20, 2020 16:01
Publication date: Available online 20 October 2020Source: Journal of VoiceAuthor(s): Mahesh Soumya, Srirangam Vijayakumar Narasimhan
Tue Oct 20, 2020 16:01
Publication date: Available online 19 October 2020Source: Journal of VoiceAuthor(s): Patrick R. Walden
Tue Oct 20, 2020 16:01
Condition: Gastric or Gastro-esophageal Junction (GEJ) or Esophageal Adenocarcinoma (EAC)Interventions: Drug: NT-17; Drug: NivolumabSponsors: NeoImmuneTech; Bristol-Myers SquibbNot yet recruiting
Tue Oct 20, 2020 15:57
Condition: MelanomaInterventions: Other: Immunotherapy; Other: Quality-of-Life Assessment; Radiation: Radiation TherapySponsors: M.D. Anderson Cancer Center; National Cancer Institute (NCI)Recruiting
Tue Oct 20, 2020 15:57
Conditions: Osteoarthritis, Hip; Osteonecrosis of Femoral Head; Femoral Neck Fractures; Rheumatoid Arthritis of Hip; Posttraumatic ArthropathyIntervention: Procedure: Total hip arthroplasty with Delta TT cupSponsors: Seoul National University Hospital; LIMA KoreaRecruiting
Tue Oct 20, 2020 15:57
Conditions: Neoplasm, Esophagus; Malignant Esophagus Tumor; Neoplasm, EsophagealIntervention: Combination Product: Bintrafusp alfaSponsor: Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)Not yet recruiting
Tue Oct 20, 2020 15:57
Conditions: Radiodermatitis; Radiation Toxicity; Radiation Dermatitis; Skin Diseases; Head and Neck CancerIntervention: Device: Cavilon Advanced Skin ProtectantSponsor: Jessa HospitalRecruiting
Tue Oct 20, 2020 15:57
Condition: Head and Neck CancerIntervention: Other: Submandibular Gland Stem Cell TransplantationSponsor: University Medical Center GroningenNot yet recruiting
Tue Oct 20, 2020 15:57
The Dynamics of Functional Brain Networks Associated With Depressive Symptoms in a Nonclinical Sample. Front Neural Circuits. 2020;14:570583 Authors: Alonso Martínez S, Deco G, Ter Horst GJ, Cabral J Abstract Brain function depends on the flexible and dynamic coordination of functional subsystems within distributed neural networks operating on multiple scales. Recent progress has been made in the characterization of functional connectivity...
Tue Oct 20, 2020 15:56
Sex-Related Differential Whole-Brain Input Atlas of Locus Coeruleus Noradrenaline Neurons. Front Neural Circuits. 2020;14:53 Authors: Sun P, Wang J, Zhang M, Duan X, Wei Y, Xu F, Ma Y, Zhang YH Abstract As the most important organ in our bodies, the brain plays a critical role in deciding sex-related differential features; however, the underlying neural circuitry basis remains unclear. Here, we used a cell-type-specific rabies virus-mediated...
Tue Oct 20, 2020 15:56
New Findings What is the central question of this study? Studies reported the efficacy of metformin as a promising drug for prevent or treating metabolic diseases. Nutrient stresses during neonatal life increase long‐term offspring risk for cardiometabolic diseases. Can early metformin treatment prevent the early overfeeding malprogramming effects? What is the main finding and its importance? Neonatal metformin treatment prevents early overfeeding‐induced metabolic dysfunctions in adult rats....
Mon Oct 19, 2020 18:24
Abstract Legius syndrome is a disorder of the RAS and mitogen‐activated protein kinase (MAPK) pathway first described in 2007 by Eric Legius, et al., that has been considered a milder phenotype than reported in the RASopathy neurofibromatosis type 1 (NF1). However, with approximately 200 cases reported in the literature, the Legius syndrome phenotype remains to be fully characterized. We report a child who presented with moyamoya syndrome and who has Legius syndrome due to a pathogenic variant in...
Tue Oct 20, 2020 15:44
Abstract Pneumonia and respiratory infections impact infants and children with Down syndrome; pneumonia is a leading cause of mortality in adults with Down syndrome. We aimed to review the literature to evaluate gaps and address key questions. A series of key questions were formulated a priori to inform the search strategy and review process; addressed prevalence, severity, etiology, risk factors, preventive methods, screening, and financial costs, potential benefits or harms of screening. Using...
Mon Oct 19, 2020 22:35
Abstract Epiphyseal chondrodysplasia, Miura type (ECDM) is a skeletal dysplasia with tall stature and distinctive skeletal features caused by heterozygous NPR2 pathogenic variants. Only four families have been reported. We present a family with five affected individuals (mother, three sons, and daughter). The mother's phenotype was relatively mild: borderline tall stature and elongated halluces operated during childhood. The children were remarkably more severely affected with tall stature, scoliosis,...
Mon Oct 19, 2020 22:23
Publication date: Available online 19 October 2020Source: Practical Radiation OncologyAuthor(s): N. Patrik Brodin, Wolfgang A. Tomé, Madhur K. Garg, Nitin Ohri
Tue Oct 20, 2020 15:36
We studied the topography of retinal ganglion cells in the Japanese smelt. The spatial density of ganglion cells was minimum (2,360‐3,960 cells/mm2) in the dorsal and ventral periphery. It gradually increased centripetally to reach a peak of 10,960‐14,275 cells/mm2 in the temporal retina, where a pronounced area retinae temporalis was detected. The theoretical anatomical spatial resolution was minimum in the ventral periphery (1.26‐1.47 cpd) and maximum in area retinae temporalis (2.70‐2.83 cpd)....
Tue Oct 20, 2020 15:33
Myofascia, a deep fascia enveloping skeletal muscles tissue consists of abundant collagen and elastin fibres. With a combination of quantitative approach and intravital fluorescence staining, we clarified that the dynamics of myofascial fibril structure consisting of elastin depend upon the muscular activity. Furthermore, potentially favorable actions of neutrophils, locally recruited with muscle contraction, was involved in maintaining the muscle structure via elastolytic activities. Abstract...
Mon Oct 19, 2020 18:35
AQP‐1 in mouse developing salivary glandsA: AQP‐1 expression in basal cell membranes (green ‐ A’) co‐expressed with PH3 nuclear staining (red ‐ A’’). B: At E14.5: AQP‐1 and PH3, showing expression in the ductal and acinar epithelium. C and D: Salivary gland at E16.5, showing condensed mitotic nuclei (blue) colocalised with AQP‐1 in several acinar cells and ductal epithelia. Abstract Aquaporins (AQPs) are essential to coordinate the transit of water and ions through the cell membrane. In salivary...
Mon Oct 19, 2020 18:23
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