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John Martin

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https://www.readbyqxmd.com/read/28329761/somatic-mutations-reveal-asymmetric-cellular-dynamics-in-the-early-human-embryo
#1
Young Seok Ju, Inigo Martincorena, Moritz Gerstung, Mia Petljak, Ludmil B Alexandrov, Raheleh Rahbari, David C Wedge, Helen R Davies, Manasa Ramakrishna, Anthony Fullam, Sancha Martin, Christopher Alder, Nikita Patel, Steve Gamble, Sarah O'Meara, Dilip D Giri, Torril Sauer, Sarah E Pinder, Colin A Purdie, Åke Borg, Henk Stunnenberg, Marc van de Vijver, Benita K T Tan, Carlos Caldas, Andrew Tutt, Naoto T Ueno, Laura J van 't Veer, John W M Martens, Christos Sotiriou, Stian Knappskog, Paul N Span, Sunil R Lakhani, Jórunn Erla Eyfjörd, Anne-Lise Børresen-Dale, Andrea Richardson, Alastair M Thompson, Alain Viari, Matthew E Hurles, Serena Nik-Zainal, Peter J Campbell, Michael R Stratton
Somatic cells acquire mutations throughout the course of an individual's life. Mutations occurring early in embryogenesis are often present in a substantial proportion of, but not all, cells in postnatal humans and thus have particular characteristics and effects. Depending on their location in the genome and the proportion of cells they are present in, these mosaic mutations can cause a wide range of genetic disease syndromes and predispose carriers to cancer. They have a high chance of being transmitted to offspring as de novo germline mutations and, in principle, can provide insights into early human embryonic cell lineages and their contributions to adult tissues...
March 22, 2017: Nature
https://www.readbyqxmd.com/read/28328629/clinical-biomechanical-and-anatomic-investigation-of-colles-fascia-and-pubic-ramus-periosteum-for-use-during-medial-thighplasty
#2
Martin J Carney, Tim Matatov, Matthew Freeman, John Miller, Rahul Vemula, Jason Schuster, Michael Dancisak, John Lindsey, Guenevere Rae
INTRODUCTION: The medial thighplasty is a procedure where patients may attain superior mobility, hygiene, and cosmesis. Most surgeons use attachment of the superficial fascial system (SFS) of the thigh flap to the Colles fascia, whereas others attach the SFS to the pubic ramus periosteum. Because of a high complication profile, we aim to elucidate the clinical, biomechanical, and anatomic qualities of the Colles fascia versus the pubic ramus periosteum. MATERIALS AND METHODS: We performed a 17-year retrospective review documenting clinical complications, a biomechanical analysis of sutures placed in different tissue layers of the thigh, and a histologic analysis surrounding the ischiopubic ramus...
March 21, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28328039/reduction-of-metal-adducts-in-oligonucleotide-mass-spectra-in-ion-pair-reversed-phase-chromatography-mass-spectrometry-analysis
#3
Robert E Birdsall, Martin Gilar, Henry Shion, Ying Qing Yu, Weibin Chen
RATIONALE: Electrospray ionization mass spectrometry (ESI-MS)-based techniques commonly used in oligonucleotide analyses are known to be sensitive to alkali metal adduct formation. Adducts directly impact the sensitivity of MS-based analyses as the available charge is distributed across the parent peak and adduct(s). The current study systematically evaluated common liquid chromatography (LC) components in LC/ESI-MS configurations used in oligonucleotide analysis to identify metal adduct contributions from LC instrumentation...
July 30, 2016: Rapid Communications in Mass Spectrometry: RCM
https://www.readbyqxmd.com/read/28328018/abundance-correction-for-mass-discrimination-effects-in-polymer-mass-spectra
#4
Martin S Engler, Sarah Crotty, Markus J Barthel, Christian Pietsch, Ulrich S Schubert, Sebastian Böcker
RATIONALE: Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOFMS) is frequently used to analyze homo- and copolymers, i.e. for computing copolymer fingerprints. However, the oligomer abundances are influenced by mass discrimination, i.e. mass- and composition-dependent ionization. We have developed a computational method to correct the abundance bias caused by the mass discrimination. METHODS: MALDI-TOFMS in combination with computational methods was used to investigate three random copolymers with different ratios of styrene and isoprene...
May 30, 2016: Rapid Communications in Mass Spectrometry: RCM
https://www.readbyqxmd.com/read/28327203/an-appraisal-of-analytical-tools-used-in-predicting-clinical-outcomes-following-radiation-therapy-treatment-of-men-with-prostate-cancer-a-systematic-review
#5
Elspeth Raymond, Michael E O'Callaghan, Jared Campbell, Andrew D Vincent, Kerri Beckmann, David Roder, Sue Evans, John McNeil, Jeremy Millar, John Zalcberg, Martin Borg, Kim Moretti
BACKGROUND: Prostate cancer can be treated with several different modalities, including radiation treatment. Various prognostic tools have been developed to aid decision making by providing estimates of the probability of different outcomes. Such tools have been demonstrated to have better prognostic accuracy than clinical judgment alone. METHODS: A systematic review was undertaken to identify papers relating to the prediction of clinical outcomes (biochemical failure, metastasis, survival) in patients with prostate cancer who received radiation treatment, with the particular aim of identifying whether published tools are adequately developed, validated, and provide accurate predictions...
March 21, 2017: Radiation Oncology
https://www.readbyqxmd.com/read/28326425/bilateral-pelvic-discontinuity-a-unique-condition-characterized-by%C3%A2-high-failure-rates-of-current-treatment
#6
John R Martin, Ian Barrett, Rafael J Sierra, David G Lewallen, Daniel J Berry
BACKGROUND: Bilateral pelvic discontinuity is characterized by complete dissociation of the superior and inferior pelvis secondary to bone loss or fracture. The end result is a freely mobile inferior pelvis at the level of each discontinuity which presents a significant reconstruction challenge. This clinical entity has not been described previously, and the results of surgical treatment are not known. METHODS: We retrospectively reviewed all identified cases of pelvic discontinuity (PD) treated with revision THA at one institution...
December 2016: Arthroplasty Today
https://www.readbyqxmd.com/read/28325922/variability-in-h9n2-haemagglutinin-receptor-binding-preference-and-the-ph-of-fusion
#7
Thomas P Peacock, Donald J Benton, Jean-Remy Sadeyen, Pengxiang Chang, Joshua E Sealy, Juliet E Bryant, Stephen R Martin, Holly Shelton, John W McCauley, Wendy S Barclay, Munir Iqbal
H9N2 avian influenza viruses are primarily a disease of poultry; however, they occasionally infect humans and are considered a potential pandemic threat. Little work has been performed to assess the intrinsic biochemical properties related to zoonotic potential of H9N2 viruses. The objective of this study, therefore, was to investigate H9N2 haemagglutinins (HAs) using two well-known correlates for human adaption: receptor-binding avidity and pH of fusion. Receptor binding was characterized using bio-layer interferometry to measure virus binding to human and avian-like receptor analogues and the pH of fusion was assayed by syncytium formation in virus-infected cells at different pHs...
March 22, 2017: Emerging Microbes & Infections
https://www.readbyqxmd.com/read/28324183/multimodality-management-and-outcomes-of-brain-arterio-venous-malformations-avms-in-children-personal-experience-and-review-of-the-literature-with-specific-emphasis-on-age-at-first-avm-bleed
#8
REVIEW
Anan Shtaya, John Millar, Owen Sparrow
PURPOSE: The purpose of this paper is to study the presentation and analyse the results of multimodality treatment of brain arterio-venous malformations (AVMs) in children at our centre and review age at first AVM rupture in the literature. METHODS: Of 52 patients aged <18 years, 47 with brain AVMs (27 males and 20 females) aged 4-17 years (mean 12.2) were retrospectively reviewed. PubMed search revealed five additional studies including 267 patients where the prevalence of age-related AVMs rupture was analysed...
March 21, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28323905/elevated-plasma-levels-of-cardiac-troponin-i-predict-left-ventricular-systolic-dysfunction-in-patients-with-myotonic-dystrophy-type-1-a-multicentre-cohort-follow-up-study
#9
Mark J Hamilton, Yvonne Robb, Sarah Cumming, Helen Gregory, Alexis Duncan, Monika Rahman, Anne McKeown, Catherine McWilliam, John Dean, Alison Wilcox, Maria E Farrugia, Anneli Cooper, Josephine McGhie, Berit Adam, Richard Petty, Cheryl Longman, Iain Findlay, Alan Japp, Darren G Monckton, Martin A Denvir
OBJECTIVE: High sensitivity plasma cardiac troponin-I (cTnI) is emerging as a strong predictor of cardiac events in a variety of settings. We have explored its utility in patients with myotonic dystrophy type 1 (DM1). METHODS: 117 patients with DM1 were recruited from routine outpatient clinics across three health boards. A single measurement of cTnI was made using the ARCHITECT STAT Troponin I assay. Demographic, ECG, echocardiographic and other clinical data were obtained from electronic medical records...
2017: PloS One
https://www.readbyqxmd.com/read/28323836/single-nucleotide-variants-and-indels-identified-from-whole-genome-re-sequencing-of-guzerat-gyr-girolando-and-holstein-cattle-breeds
#10
Nedenia Bonvino Stafuzza, Adhemar Zerlotini, Francisco Pereira Lobo, Michel Eduardo Beleza Yamagishi, Tatiane Cristina Seleguim Chud, Alexandre Rodrigues Caetano, Danísio Prado Munari, Dorian J Garrick, Marco Antonio Machado, Marta Fonseca Martins, Maria Raquel Carvalho, John Bruce Cole, Marcos Vinicius Gualberto Barbosa da Silva
Whole-genome re-sequencing, alignment and annotation analyses were undertaken for 12 sires representing four important cattle breeds in Brazil: Guzerat (multi-purpose), Gyr, Girolando and Holstein (dairy production). A total of approximately 4.3 billion reads from an Illumina HiSeq 2000 sequencer generated for each animal 10.7 to 16.4-fold genome coverage. A total of 27,441,279 single nucleotide variations (SNVs) and 3,828,041 insertions/deletions (InDels) were detected in the samples, of which 2,557,670 SNVs and 883,219 InDels were novel...
2017: PloS One
https://www.readbyqxmd.com/read/28323192/multimodality-management-of-spetzler-martin-grade-3-brain-arteriovenous-malformations-with-subgroup-analysis
#11
Isaac Josh Abecassis, John D Nerva, Abdullah Feroze, Jason Barber, Basavaraj V Ghodke, Louis J Kim, Laligam N Sekhar
INTRODUCTION: Spetzler-Martin grade 3 (SM3) lesions entail 4 distinct subtypes described based on size, eloquence, and deep venous drainage (DVD) (3A-3D). The ideal management of each is contentious, and the results of A Randomized Trial of Unruptured Brain AVMs (ARUBA) introduced additional controversy and attention towards management strategies of unruptured bAVMs. METHODS: We retrospectively reviewed 114 patients with treated SM3 bAVMs, including both ruptured and unruptured lesions...
March 18, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28321937/ultrafine-particles-and-black-carbon-personal-exposures-in-asthmatic-and-non-asthmatic-children-at-school-age
#12
Pau Pañella, Maribel Casas, David Donaire-Gonzalez, Raquel Garcia-Esteban, Oliver Robinson, Antònia Valentín, John Gulliver, Isabelle Momas, Mark Nieuwenhuijsen, Martine Vrijheid, Jordi Sunyer
Traffic-related air pollution (TRAP) exposure during childhood is associated with asthma; however, the contribution of the different TRAP pollutants in each microenvironment (home, school, transportation, others) in asthmatic and non-asthmatic children is unknown. Daily (24 h) personal black carbon (BC), ultrafine particles (UFP), and alveolar lung deposited surface area (LDSA) individual exposure measurements were obtained from 100 children (29 past and 21 current asthmatics, 50 non-asthmatics) aged 9±0.7 years from the INMA-Sabadell cohort (Catalonia, Spain)...
March 20, 2017: Indoor Air
https://www.readbyqxmd.com/read/28318513/improving-risk-adjustment-for-mortality-after-pediatric-cardiac-surgery-the-uk-prais2-model
#13
Libby Rogers, Katherine L Brown, Rodney C Franklin, Gareth Ambler, David Anderson, David J Barron, Sonya Crowe, Kate English, John Stickley, Shane Tibby, Victor Tsang, Martin Utley, Thomas Witter, Christina Pagel
BACKGROUND: Partial Risk Adjustment in Surgery (PRAiS), a risk model for 30-day mortality after children's heart surgery, has been used by the UK National Congenital Heart Disease Audit to report expected risk-adjusted survival since 2013. This study aimed to improve the model by incorporating additional comorbidity and diagnostic information. METHODS: The model development dataset was all procedures performed between 2009 and 2014 in all UK and Ireland congenital cardiac centers...
March 15, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28317732/mechanism-of-cassava-tuber-cell-wall-weakening-by-dilute-sodium-hydroxide-steeping
#14
Martin Odoch, Elna M Buys, John R N Taylor
Steeping of cassava root pieces in 0.75% NaOH in combination with wet milling was investigated to determine whether and how dilute NaOH modifies cassava cell walls. Gas chromatography data of cell wall constituent sugar composition and Fourier transform infrared (FTIR) data showed that NaOH steeping reduced the level of pectin in cassava cell walls. FTIR and wide-angle X-ray scattering spectroscopy also indicated that NaOH steeping combined with fine milling slightly reduced cellulose crystallinity. Scanning electron microscopy showed that NaOH steeping produced micropores in the cell walls and light microscopy revealed that NaOH steeping increased disaggregation of parenchyma cells...
August 1, 2017: Food Chemistry
https://www.readbyqxmd.com/read/28316772/neural-circuitry-at-age-6%C3%A2-months-associated-with-later-repetitive-behavior-and-sensory-responsiveness-in-autism
#15
Jason J Wolff, Meghan R Swanson, Jed T Elison, Guido Gerig, John R Pruett, Martin A Styner, Clement Vachet, Kelly N Botteron, Stephen R Dager, Annette M Estes, Heather C Hazlett, Robert T Schultz, Mark D Shen, Lonnie Zwaigenbaum, Joseph Piven
BACKGROUND: Restricted and repetitive behaviors are defining features of autism spectrum disorder (ASD). Under revised diagnostic criteria for ASD, this behavioral domain now includes atypical responses to sensory stimuli. To date, little is known about the neural circuitry underlying these features of ASD early in life. METHODS: Longitudinal diffusion tensor imaging data were collected from 217 infants at high familial risk for ASD. Forty-four of these infants were diagnosed with ASD at age 2...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28315812/onset-of-coagulation-function-recovery-is-delayed-in-severely-injured-trauma-patients-with-venous-thromboembolism
#16
Belinda H McCully, Christopher R Connelly, Kelly A Fair, John B Holcomb, Erin E Fox, Charles E Wade, Eileen M Bulger, Martin A Schreiber
BACKGROUND: Altered coagulation function after trauma may contribute to venous thromboembolism (VTE) development. Severe trauma impairs coagulation function, but the trajectory for recovery is not known. We hypothesized that enhanced, early recovery of coagulation function increases VTE risk in severely-injured trauma patients. STUDY DESIGN: Secondary analysis was performed on data from The Pragmatic Randomized Optimal Platelet and Plasma Ratio (PROPPR) trial, excluding patients who died within 24 hours and/or were on pre-injury anticoagulants...
March 15, 2017: Journal of the American College of Surgeons
https://www.readbyqxmd.com/read/28314788/the-parp-inhibitor-veliparib-can-be-safely-added-to-bendamustine-and-rituximab-and-has-preliminary-evidence-of-activity-in-b-cell-lymphoma
#17
Jacob D Soumerai, Andrew D Zelenetz, Craig Moskowitz, M Lia Palomba, Paul A Hamlin, Ariela Noy, David J Straus, Alison J Moskowitz, Anas Younes, Matthew J Matasar, Steven Horwitz, Carol Portlock, Jason Konner, Mrinal M Gounder, David M Hyman, Martin H Voss, Matthew G Fury, Devika Gajria, Richard D Carvajal, Alan L Ho, Jan H Beumer, Brian Kiesel, Zhigang Zhang, Alice Chen, Richard F Little, Christine Jarjies, Thu O Dang, Fallon France, Nishant Mishra, John F Gerecitano
PURPOSE: The PARP inhibitor veliparib enhances the cytotoxicity of alkylating agents. This phase 1 study evaluated veliparib with the bifunctional alkylator bendamustine (VB) in patients with relapsed/refractory lymphoma, multiple myeloma, and solid malignancies, with a cohort expansion of VB with rituximab (VBR) in patients with B-cell lymphomas. EXPERIMENTAL DESIGN: This dose-escalation study evaluated safety, pharmacokinetics and preliminary efficacy of veliparib (20-400 mg BID, days 1-7 of 28-day cycle) and bendamustine (70 and 90 mg/m2 IV, days 1 and 2)...
March 17, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28304301/modeling-the-relationships-among-late-life-body-mass-index-cerebrovascular-disease-and-alzheimer-s-disease-neuropathology-in-an-autopsy-sample-of-1-421-subjects-from-the-national-alzheimer-s-coordinating-center-data-set
#18
Michael L Alosco, Jonathan Duskin, Lilah M Besser, Brett Martin, Christine E Chaisson, John Gunstad, Neil W Kowall, Ann C McKee, Robert A Stern, Yorghos Tripodis
The relationship between late-life body mass index (BMI) and Alzheimer's disease (AD) is poorly understood due to the lack of research in samples with autopsy-confirmed AD neuropathology (ADNP). The role of cerebrovascular disease (CVD) in the interplay between late-life BMI and ADNP is unclear. We conducted a retrospective longitudinal investigation and used joint modeling of linear mixed effects to investigate causal relationships among repeated antemortem BMI measurements, CVD (quantified neuropathologically), and ADNP in an autopsy sample of subjects across the AD clinical continuum...
March 13, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28302067/erratum-to-aquaculture-genomics-genetics-and-breeding-in-the-united-states-current-status-challenges-and-priorities-for-future-research
#19
Hisham Abdelrahman, Mohamed ElHady, Acacia Alcivar-Warren, Standish Allen, Rafet Al-Tobasei, Lisui Bao, Ben Beck, Harvey Blackburn, Brian Bosworth, John Buchanan, Jesse Chappell, William Daniels, Sheng Dong, Rex Dunham, Evan Durland, Ahmed Elaswad, Marta Gomez-Chiarri, Kamal Gosh, Ximing Guo, Perry Hackett, Terry Hanson, Dennis Hedgecock, Tiffany Howard, Leigh Holland, Molly Jackson, Yulin Jin, Karim Khalil, Thomas Kocher, Tim Leeds, Ning Li, Lauren Lindsey, Shikai Liu, Zhanjiang Liu, Kyle Martin, Romi Novriadi, Ramjie Odin, Yniv Palti, Eric Peatman, Dina Proestou, Guyu Qin, Benjamin Reading, Caird Rexroad, Steven Roberts, Mohamed Salem, Andrew Severin, Huitong Shi, Craig Shoemaker, Sheila Stiles, Suxu Tan, Kathy F J Tang, Wilawan Thongda, Terrence Tiersch, Joseph Tomasso, Wendy Tri Prabowo, Roger Vallejo, Hein van der Steen, Khoi Vo, Geoff Waldbieser, Hanping Wang, Xiaozhu Wang, Jianhai Xiang, Yujia Yang, Roger Yant, Zihao Yuan, Qifan Zeng, Tao Zhou
No abstract text is available yet for this article.
March 16, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28301395/increased-anatomic-severity-in-appendicitis-is-associated-with-outcomes-in-a-south-african-population
#20
Matthew C Hernandez, Victor Y Kong, Johnathon M Aho, John L Bruce, Stephanie F Polites, Grant L Laing, Martin D Zielinski, Damian L Clarke
BACKGROUND: Severity of emergency general surgery diseases (EGS) has not been standardized until recently. The American Association for the Surgery of Trauma (AAST) proposed an anatomic severity grading system for EGS diseases to facilitate communication and quality comparisons between providers and hospitals. Previous work has demonstrated validity of the system for appendicitis in the United States. In order to demonstrate generalizability, we aim to externally validate this grading system in South African patients with appendicitis...
March 15, 2017: Journal of Trauma and Acute Care Surgery
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