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https://www.readbyqxmd.com/read/30342077/successful-intracranial-delivery-of-trastuzumab-by-gene-therapy-for-treatment-of-her2-positive-breast-cancer-brain-metastases
#1
Inbal Zafir-Lavie, Shay Sherbo, Haim Goltsman, Felix Badinter, Eilam Yieni, Paula Ofek, Reem Miari, Osnat Tal, Atar Liran, Tamar Shatil, Simi Krispel, Nir Shapir, Garry A Neil, Itai Benhar, Amos Panet, Ronit Satchi Fainaro
BACKGROUND: Trastuzumab is a monoclonal antibody which demonstrates efficacy for HER2 positive breast cancer patients. Recently, an increased incidence of brain metastasis in trastuzumab-treated patients has been reported. The reason for this may be the effectiveness of systemic trastuzumab allowing patients to survive longer thus providing time for brain metastases to develop, along with the lack of penetration of systemic therapies through the blood brain barrier. In recent years, several administration routes to the brain have been evaluated...
October 17, 2018: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/30340456/big-data-analysis-of-human-mitochondrial-dna-substitution-models-a-regression-approach
#2
Keren Levinstein Hallak, Shay Tzur, Saharon Rosset
BACKGROUND: We study Phylotree, a comprehensive representation of the phylogeny of global human mitochondrial DNA (mtDNA) variations, to better understand the mtDNA substitution mechanism and its most influential factors. We consider a substitution model, where a set of genetic features may predict the rate at which mtDNA substitutions occur. To find an appropriate model, an exhaustive analysis on the effect of multiple factors on the substitution rate is performed through Negative Binomial and Poisson regressions...
October 19, 2018: BMC Genomics
https://www.readbyqxmd.com/read/30327448/biallelic-mutations-in-exoc3l2-cause-a-novel-syndrome-that-affects-the-brain-kidney-and-blood
#3
Adel Shalata, Supanun Lauhasurayotin, Zvi Leibovitz, Hongbing Li, Diane Hebert, Santhosh Dhanraj, Yarin Hadid, Mohammed Mahroum, Jacob Bajar, Sandro Egenburg, Ayala Arad, Mordechai Shohat, Sami Haddad, Hassan Bakry, Houtan Moshiri, Stephen S Scherer, Shay Tzur, Yigal Dror
BACKGROUND: Dandy-Walker malformation features agenesis/hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. Although Dandy-Walker malformation is relatively common and several genes were linked to the syndrome, the genetic cause in the majority of cases is unknown. OBJECTIVE: To identify the mutated gene responsible for Dandy-Walker malformation, kidney disease and bone marrow failure in four patients from two unrelated families...
October 16, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30324785/paraneoplastic-neurological-syndromes-a-condition-of-increasing-recognition
#4
EDITORIAL
Lior Seluk, Shaye Kivity
No abstract text is available yet for this article.
October 2018: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/30320045/when-the-ideal-meets-the-feasible-constructing-a-protocol-for-developmental-assessment-at-early-school-age
#5
Adel Farhi, Saralee Glasser, Shay Frank, Galit Hirsh-Yechezkel, Louise Brinton, Bert Scoccia, Rafael Ron-El, Liat Lerner-Geva, Lidia V Gabis
Objective: To describe development of a methodology for an outcome study of children born following in-vitro fertilization or spontaneously-conceived, as a model for defining normal and below-normal development of school-age children for research purposes. Study Design: The main issues addressed were defining the major health and developmental domains to be investigated, selection of age-appropriate validated instruments, considering time constraints to maximize compliance, and budgetary limitations. The final protocol included a half-hour structured telephone interview with mothers of all 759 children and a 2-h developmental assessment of 294 of them...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/30316990/polymerase-1-pathway-activation-in-acute-multiple-sclerosis-relapse
#6
REVIEW
Anat Achiron, Rina Falb, Anna Feldman, Maria Bovim, Onn Rosenblum, Ida Sarova Pinhas, David Magalashvili, Mark Dolev, Shay Menascu, Michael Gurevich
BACKGROUND: The operating molecular mechanisms that characterize a multiple sclerosis (MS) relapse has not been thoroughly studied. We have shown that increased expression of RNA polymerase 1 (POL1) molecular pathway is associated with increased MS disease activity. OBJECTIVE: To assess POL1 pathway expression during acute MS relapse. METHODS: We studied POL1 pathway activation and associated biomarkers during the first acute optic neuritis attack of MS, and in relapsing-remitting MS patients treated with disease-modifying drugs (DMDs) experiencing an acute MS relapse or a radiological relapse using gene expression microarrays and quantitative RT-PCR...
October 11, 2018: Autoimmunity Reviews
https://www.readbyqxmd.com/read/30304022/castle-classification-of-single-cells-by-transfer-learning-harnessing-the-power-of-publicly-available-single-cell-rna-sequencing-experiments-to-annotate-new-experiments
#7
Yuval Lieberman, Lior Rokach, Tal Shay
Single-cell RNA sequencing (scRNA-seq) is an emerging technology for profiling the gene expression of thousands of cells at the single cell resolution. Currently, the labeling of cells in an scRNA-seq dataset is performed by manually characterizing clusters of cells or by fluorescence-activated cell sorting (FACS). Both methods have inherent drawbacks: The first depends on the clustering algorithm used and the knowledge and arbitrary decisions of the annotator, and the second involves an experimental step in addition to the sequencing and cannot be incorporated into the higher throughput scRNA-seq methods...
2018: PloS One
https://www.readbyqxmd.com/read/30292540/corrigendum-to-epidemiological-characteristics-of-pediatric-epistaxis-presenting-to-the-emergency-department-international-journal-of-pediatric-otorhinolaryngology-2017-121-124
#8
Sophie Shay, Nina L Shapiro, Neil Bhattacharyya
No abstract text is available yet for this article.
October 3, 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/30284202/gastric-intussusception-secondary-to-fundic-gland-polyposis
#9
Shay Behrens, Jorge Obando, Dan G Blazer
No abstract text is available yet for this article.
October 3, 2018: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/30283348/energy-expenditure-as-a-function-of-activity-level-after-spinal-cord-injury-the-need-for-tetraplegia-specific-energy-balance-guidelines
#10
Jessie R Shea, Barbara L Shay, Jeff Leiter, Kristine C Cowley
The World Health Organization recognizes obesity as a global and increasing problem for the general population. Because of their reduced physical functioning, people with spinal cord injury (SCI) face additional challenges for maintaining an appropriate whole body energy balance, and the majority with SCI are overweight or obese. SCI also reduces exercise capacity, particularly in those with higher-level injury (tetraplegia). Tetraplegia-specific caloric energy expenditure (EE) data is scarce. Therefore, we measured resting and exercise-based energy expenditure in participants with tetraplegia and explored the accuracy of general population-based energy use predictors...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/30280256/a-comparison-of-the-effects-of-selected-mono-ethnic-urban-environments-on-the-autonomic-functions-of-muslim-and-jewish-women-in-israel
#11
Diana Saadi, Keren Agay-Shay, Emanuel Tirosh, Izhak Schnell
Few previous studies evaluated ethnic differences in the effects of urban environments on the autonomic balance in intra-ethnic environments and the mediation effects of environmental exposures (air pollution, noise, and thermal load). In a field experimental study, we exposed 48 Muslim and 24 Jewish women to park, town center, and residential street in Israeli mono-ethnic small towns. Heart rate variability (HRV), noise, thermal load, and carbon monoxide (CO) were measured by portable devices while visiting the environments and were analyzed using mixed models...
October 2, 2018: Environmental Monitoring and Assessment
https://www.readbyqxmd.com/read/30280136/patient-profiling-can-identify-spondylolisthesis-patients-at-risk-for-conversion-from-nonoperative-to-operative-treatment
#12
Peter G Passias, Gregory Poorman, Jon Lurie, Wenyan Zhao, Tamara Morgan, Samantha Horn, Robert Shay Bess, Virginie Lafage, Michael Gerling, Thomas J Errico
Background: Factors that are relevant to the decision regarding the use of surgical treatment for degenerative spondylolisthesis include disease-state severity and patient quality-of-life expectations. Some factors may not be easily appraised by the surgeon. In prospective trials involving patients undergoing nonoperative and operative treatment, there are instances of crossover in which patients from the nonoperative group undergo surgery. Identifying and understanding patient characteristics that may influence crossover from nonoperative to operative treatment will aid understanding of what motivates patients toward pursuing surgery...
June 28, 2018: JB & JS open access
https://www.readbyqxmd.com/read/30278218/sequence-based-hla-a-b-c-dp-dq-and-dr-typing-of-496-adults-from-san-diego-california-usa
#13
Eugene Moore, Alba Grifoni, Daniela Weiskopf, Veronique Schulten, Cecilia S Lindestam Arlehamn, Michael Angelo, John Pham, Shay Leary, John Sidney, David Broide, April Frazier, Elizabeth Phillips, Simon Mallal, Steven J Mack, Alessandro Sette
DNA sequence-based typing at the HLA-A, -B, -C, -DPB1, -DQA1, -DQB1, and -DRB1 loci was performed on 496 healthy adult donors from San Diego, California, to characterize allele frequencies in support of studies of T cell responses to common allergens. Deviations from Hardy Weinberg proportions were detected at each locus except A and C. Several alleles were found in more than 15% of individuals, including the class II alleles DPB1∗02:01, DPB1∗04:01, DQA1∗01:02, DQA1∗05:01, DQB1∗03:01, and the class I allele A∗02:01...
September 29, 2018: Human Immunology
https://www.readbyqxmd.com/read/30276093/t1-slope-minus-cervical-lordosis-ts-cl-the-cervical-answer-to-pi-ll-defines-cervical-sagittal-deformity-in-patients-undergoing-thoracolumbar-osteotomy
#14
Themistocles Protopsaltis, Jamie Terran, Alex Soroceanu, Michael J Moses, Nicolas Bronsard, Justin Smith, Eric Klineberg, Gregory Mundis, Han Jo Kim, Richard Hostin, Robert Hart, Christopher Shaffrey, Shay Bess, Christopher Ames, Frank Schwab, Virginie Lafage
Background: Cervical kyphosis and C2-C7 plumb line (CPL) are established descriptors of cervical sagittal deformity (CSD). Reciprocal changes in these parameters have been demonstrated in thoracolumbar deformity correction. The purpose of this study was to investigate the development of CSD, using T1 slope minus cervical lordosis (TS-CL) to define CSD and to correlate TS-CL and a novel global sagittal parameter, cervical-thoracic pelvic angle (CTPA), with CPL. Methods: A multicenter, retrospective analysis of patients with thoracolumbar deformity undergoing three-column osteotomy was performed...
June 2018: International Journal of Spine Surgery
https://www.readbyqxmd.com/read/30274822/exhaustive-non-synonymous-variants-functionality-prediction-enables-high-resolution-characterization-of-the-neurofibromin-architecture
#15
Ofer Isakov, Deeann Wallis, D Gareth Evans, Shay Ben-Shachar
BACKGROUND: Neurofibromatosis type I (NF1) is caused by heterozygous loss-of-function variants in the NF1 gene encoding neurofibromin which serves as a tumor suppressor that inhibits RAS signaling and regulates cell proliferation and differentiation. While, the only well-established functional domain in the NF1 protein is the GAP-related domain (GRD), most of the identified non-truncating disease-causing variants are located outside of this domain, supporting the existence of other important disease-associated domains...
October 2018: EBioMedicine
https://www.readbyqxmd.com/read/30273591/g-eye-colonoscopy-is-superior-to-standard-colonoscopy-for-increasing-adenoma-detection-rate-an-international-randomized-controlled-trial-with-videos
#16
Haim Shirin, Beni Shpak, Julia Epshtein, John Gásdal Karstensen, Arthur Hoffman, Rogier de Ridder, Pier Alberto Testoni, Sauid Ishaq, Acquisition Of Data, D Nageshwar Reddy, Seth A Gross, Helmut Neumann, Martin Goetz, Dov Abramowich, Menachem Moshkowitz, Meir Mizrahi, Peter Vilmann, Johannes Wilhelm Rey, Silvia Sanduleanu-Dascalescu, Edi Viale, Hrushikesh Chaudhari, Mark B Pochapin, Michael Yair, Mati Shnell, Shaul Yaari, Jakob Westergren Hendel, Daniel Teubner, Roel M M Bogie, Chiara Notaristefano, Roman Simantov, Nathan Gluck, Eran Israeli, Trine Stigaard, Shay Matalon, Alexander Vilkin, Ariel Benson, Stine Sloth, Amit Maliar, Amir Waizbard, Harold Jacob, Peter Thielsen, Eyal Shachar, Shmuel Rochberger, Tiberiu Hershcovici, Julie Isabelle Plougmann, Michal Braverman, Eduard Tsvang, Armita Armina Abedi, Yuri Brachman, Peter D Siersema, Ralf Kiesslich
BACKGROUND: Colorectal cancer (CRC) is largely preventable with routine screening and surveillance colonoscopy; however, interval cancers arising from precancerous lesions missed by standard colonoscopy (SC) still occur. Increased adenoma detection rate (ADR) has been found to be inversely associated with interval cancers. The G-EYE device comprises a reusable balloon integrated at the distal tip of a standard colonoscope, which flattens haustral folds, centralizes the colonoscope's optics and reduces bowel slippage...
September 28, 2018: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/30272188/recovery-kinetics-comparison-of-patients-undergoing-primary-or-revision-procedures-for-adult-cervical-deformity-using-a-novel-area-under-the-curve-methodology
#17
Frank A Segreto, Virginie Lafage, Renaud Lafage, Justin S Smith, Breton G Line, Robert K Eastlack, Justin K Scheer, Dean Chou, Nicholas J Frangella, Samantha R Horn, Cole A Bortz, Bassel G Diebo, Brian J Neuman, Themistocles S Protopsaltis, Han Jo Kim, Eric O Klineberg, Douglas C Burton, Robert A Hart, Frank J Schwab, Shay Bess, Christopher I Shaffrey, Christopher P Ames, Peter G Passias
BACKGROUND: Limited data are available to objectively define what constitutes a "good" versus a "bad" recovery for operative cervical deformity (CD) patients. Furthermore, the recovery patterns of primary versus revision procedures for CD is poorly understood. OBJECTIVE: To define and compare the recovery profiles of CD patients undergoing primary or revision procedures, utilizing a novel area-under-the-curve normalization methodology. METHODS: CD patients undergoing primary or revision surgery with baseline to 1-yr health-related quality of life (HRQL) scores were included...
September 28, 2018: Neurosurgery
https://www.readbyqxmd.com/read/30271766/the-relationship-between-gender-severity-of-disease-treatment-type-and-employment-outcome-in-patients-with-inflammatory-bowel-disease-in-israel
#18
Timna Naftali, Adi Eindor-Abarbanel, Nahum Ruhimovich, Ariella Bar-Gil Shitrit, Fabiana Sklerovsky-Benjaminov, Fred Konikoff, Shay Matalon, Haim Shirin, Yael Milgrom, Tomer Ziv-Baran, Efrat Broide
Introduction: Since individuals with IBD typically experience symptoms during their prime years of employment, it raises the question about IBD impact on employment status. Most studies concentrated on absenteeism from work with varying results in different populations. However, absenteeism reflects only one dimension of the ability to work and does not expose the problem of inability to hold a full-time job. Aims: To evaluate the influence of IBD on unemployment and working hours in Israel...
2018: Canadian Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/30270846/optimization-of-collagen-type-i-hyaluronan-hybrid-bioink-for-3d-bioprinted-liver-microenvironments
#19
Andrea Mazzocchi, Mahesh Devarasetty, Richard Connor Huntwork, Shay Soker, Aleksander Skardal
Current 3D printing of tissue is restricted by the use of biomaterials that do not recapitulate the native properties of the extracellular matrix (ECM). These restrictions have thus far prevented optimization of composition and structure of the in vivo tissue microenvironment. The artificial nature of currently used biomaterials affects cellular phenotype and function of the bioprinted tissues, and results in inaccurate modeling of disease and drug metabolism significantly. Collagen type I is the major structural component in the ECM, and is widely used as a 3D hydrogel, but is less applicable for 3D bioprinting due to low viscosity and slow polymerization...
October 1, 2018: Biofabrication
https://www.readbyqxmd.com/read/30265311/genotype-serotype-interactions-shed-light-on-genetic-components-of-inflammatory-bowel-diseases
#20
Shay Ben-Shachar, Yael Finezilber, Hofit Elad, Keren Rabinowitz, Idan Goren, Ofer Isakov, Henit Yanai, Iris Dotan
Background: We evaluated the impact of variations in ATG16L1 and NOD2 and genes on serologic responses in patients with inflammatory bowel disease (IBD). Methods: We recruited 308 IBD patients: 130 with Crohn's disease (CD), 67 with ulcerative colitis (UC), 111 with UC and an ileal pouch (UC-pouch), and 74 healthy controls. NOD2 variants (1007fs, G908R, R702W) and the ATG16L1 A300T variant were analyzed. The antiglycan antibodies anti-Saccharomyces cerevisiae (ASCA), antilaminaribioside (ALCA), antichitobioside (ACCA), and antimannobioside carbohydrate (AMCA) were analyzed by enzyme-linked immunosorbent assay...
September 27, 2018: Inflammatory Bowel Diseases
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