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Nithya Selvan, Stephan George, Fatema J Serajee, Marie Shaw, Lynne Hobson, Vera M Kalscheuer, Nripesh Prasad, Shawn E Levy, Juliet Taylor, Salim Afitmos, Charles E Schwartz, Ahm M Huq, Jozef Gecz, Lance Wells
It is estimated that ~1% of the world's population has intellectual disability, with males affected more often than females. OGT is an X-linked gene encoding for the enzyme O-GlcNAc transferase (OGT), which carries out the reversible addition of N-Acetylglucosamine (GlcNAc) to Ser/Thr residues of its intracellular substrates. Three missense mutations in the tetratricopeptide (TPR) repeats of OGT have recently been reported to cause X-linked Intellectual Disability (XLID). Here we report the discovery of two additional novel missense mutations (c...
May 16, 2018: Journal of Biological Chemistry
Rakesh Mogul, Gregory A Barding, Sidharth Lalla, Sooji Lee, Steve Madrid, Ryan Baki, Mahjabeen Ahmed, Hania Brasali, Ivonne Cepeda, Trevor Gornick, Shawn Gunadi, Nicole Hearn, Chirag Jain, Eun Jin Kim, Thi Nguyen, Vinh Bao Nguyen, Alex Oei, Nicole Perkins, Joseph Rodriguez, Veronica Rodriguez, Gautam Savla, Megan Schmitz, Nicholas Tedjakesuma, Jillian Walker
Spacecraft assembly facilities are oligotrophic and low-humidity environments, which are routinely cleaned using alcohol wipes for benchtops and spacecraft materials, and alkaline detergents for floors. Despite these cleaning protocols, spacecraft assembly facilities possess a persistent, diverse, dynamic, and low abundant core microbiome, where the Acinetobacter are among the dominant members of the community. In this report, we show that several spacecraft-associated Acinetobacter metabolize or biodegrade the spacecraft cleaning reagents of ethanol (ethyl alcohol), 2-propanol (isopropyl alcohol), and Kleenol 30 (floor detergent) under ultraminimal conditions...
April 19, 2018: Astrobiology
Bree Heestand, Matt Simon, Stephen Frenk, Denis Titov, Shawn Ahmed
Environmental stress can induce adult reproductive diapause, a state of developmental arrest that temporarily suspends reproduction. Deficiency for C. elegans Piwi protein PRG-1 results in strains that reproduce for many generations but then become sterile. We found that sterile-generation prg-1/Piwi mutants typically displayed pronounced germ cell atrophy as L4 larvae matured into 1-day-old adults. Atrophied germlines spontaneously reproliferated across the first days of adulthood, and this was accompanied by fertility for day 2-4 adults...
April 3, 2018: Cell Reports
Ahmed I Hammouda, Shawn C Standard, S Robert Rozbruch, John E Herzenberg
BACKGROUND: Different types of external fixators have been used for humeral lengthening with successful outcomes reported in literature. Motorized intramedullary (IM) lengthening nails have been developed as an alternative to external fixators for long bone lengthening in the lower extremity. QUESTIONS/PURPOSES: This case series reports on using the new technology of IM lengthening nails for humeral lengthening. We assessed the radiological healing and functional outcomes after using the PRECICE IM nail for humeral lengthening...
October 2017: HSS Journal: the Musculoskeletal Journal of Hospital for Special Surgery
Vivian L Szymczuk, Ahmed I Hammouda, Martin G Gesheff, Shawn C Standard, John E Herzenberg
BACKGROUND: Limb lengthening for congenital femoral deficiency (CFD) with or without fibular hemimelia can be performed with both external and internal devices. The purpose of this study is to compare clinical outcomes of femoral lengthening utilizing monolateral external fixation versus a magnetically motorized intramedullary nail in patients with CFD with or without fibular hemimelia. METHODS: This retrospective review included 62 patients with femoral lengthening, 32 patients had monolateral external fixation (group A), 30 patients had internal lengthening nail (group B)...
July 28, 2017: Journal of Pediatric Orthopedics
Shawn Lu Wen Tan, Saakshi Chadha, Yansheng Liu, Evelina Gabasova, David Perera, Karim Ahmed, Stephanie Constantinou, Xavier Renaudin, MiYoung Lee, Ruedi Aebersold, Ashok R Venkitaraman
Mutations truncating a single copy of the tumor suppressor, BRCA2, cause cancer susceptibility. In cells bearing such heterozygous mutations, we find that a cellular metabolite and ubiquitous environmental toxin, formaldehyde, stalls and destabilizes DNA replication forks, engendering structural chromosomal aberrations. Formaldehyde selectively depletes BRCA2 via proteasomal degradation, a mechanism of toxicity that affects very few additional cellular proteins. Heterozygous BRCA2 truncations, by lowering pre-existing BRCA2 expression, sensitize to BRCA2 haploinsufficiency induced by transient exposure to natural concentrations of formaldehyde...
June 1, 2017: Cell
Ahmed I Hammouda, Julio J Jauregui, Martin G Gesheff, Shawn C Standard, John E Herzenberg
BACKGROUND: Antegrade intramedullary (IM) nailing for skeletally immature femur fractures can damage the capital femoral epiphysis blood supply, leading to avascular necrosis (AVN) of the femoral head. Reported AVN rates are 2% for piriformis entry and 1.4% for trochanteric entry. None of previous reports described IM lengthening nails for limb lengthening procedures. We have used self-lengthening telescopic nails with a proximal Herzog bend and standard trochanteric entry for femoral lengthening in children...
June 2017: Journal of Pediatric Orthopedics
Ahmed I Hammouda, Julio J Jauregui, Martin G Gesheff, Shawn C Standard, Janet D Conway, John E Herzenberg
OBJECTIVE: To evaluate the outcomes of lengthening post-traumatic femoral segments using a recently available magnetic intramedullary (IM) lengthening system. DESIGN: Retrospective cohort study. SETTING: Urban level II Trauma Center. PATIENTS/PARTICIPANTS: Patients treated for post-traumatic femoral shortening at our institution between 2012 and 2015. We identified 17 femurs lengthened (14 men and 3 women). The mean age was 30 years (range, 11-72 years)...
July 2017: Journal of Orthopaedic Trauma
James F Howard, Miriam Freimer, Fanny O'Brien, Jing Jing Wang, Stephen R Collins, John T Kissel
INTRODUCTION: A phase 2 study of eculizumab for treating myasthenia gravis (MG) used the quantitative myasthenia gravis score (QMG) and myasthenia gravis activities of daily living profile (MG-ADL) to evaluate baseline disease severity and treatment response. Correlations were then analyzed between these assessments. METHODS: Patients were given eculizumab or placebo during the first 16-week treatment period of the crossover study, with treatment assignments reversed for the second treatment period following a 5-week washout...
August 2017: Muscle & Nerve
Saleem I Abdulrauf, Ahmed M Ashour, Eric Marvin, Jeroen Coppens, Brian Kang, Tze Yu Yeh Hsieh, Breno Nery, Juan R Penanes, Aysha K Alsahlawi, Shawn Moore, Hussam Abou Al-Shaar, Joanna Kemp, Kanika Chawla, Nanthiya Sujijantarat, Alaa Najeeb, Nadeem Parkar, Vilaas Shetty, Tina Vafaie, Jastin Antisdel, Tony A Mikulec, Randall Edgell, Jonathan Lebovitz, Matt Pierson, Paulo Henrique Pires de Aguiar, Paula Buchanan, Angela Di Cosola, George Stevens
INTRODUCTION: Numerical classification systems for the internal carotid artery (ICA) are available, but modifications have added confusion to the numerical systems. Furthermore, previous classifications may not be applicable uniformly to microsurgical and endoscopic procedures. The purpose of this study was to develop a clinically useful classification system. MATERIALS AND METHODS: We performed cadaver dissections of the ICA in 5 heads (10 sides) and evaluated 648 internal carotid arteries with computed tomography angiography...
July 2016: Journal of Craniovertebral Junction and Spine
Mohamed S Ebeida, Ahmad A Rushdi, Muhammad A Awad, Ahmed H Mahmoud, Dong-Ming Yan, Shawn A English, John D Owens, Chandrajit L Bajaj, Scott A Mitchell
We introduce an algorithmic framework for tuning the spatial density of disks in a maximal random packing, without changing the sizing function or radii of disks. Starting from any maximal random packing such as a Maximal Poisson-disk Sampling (MPS), we iteratively relocate, inject (add), or eject (remove) disks, using a set of three successively more-aggressive local operations. We may achieve a user-defined density, either more dense or more sparse, almost up to the theoretical structured limits. The tuned samples are conflict-free, retain coverage maximality, and, except in the extremes, retain the blue noise randomness properties of the input...
August 2016: Computer Graphics Forum: Journal of the European Association for Computer Graphics
Shawn Wen, Kelly E Harvard, Cara Smith Gueye, Sara E Canavati, Arna Chancellor, Be-Nazir Ahmed, John Leaburi, Dysoley Lek, Rinzin Namgay, Asik Surya, Garib D Thakur, Maxine Anne Whittaker, Roly D Gosling
BACKGROUND: Significant progress has been made in reducing the malaria burden in the Asia Pacific region, which is aggressively pursuing a 2030 regional elimination goal. Moving from malaria control to elimination requires National Malaria Control Programmes (NMCPs) to target interventions at populations at higher risk, who are often not reached by health services, highly mobile and difficult to test, treat, and track with routine measures, and if undiagnosed, can maintain parasite reservoirs and contribute to ongoing transmission...
May 10, 2016: Malaria Journal
Sheikh Sohail Ahmed, Shawn R Hicks, James E Slaven, Mara E Nitu
OBJECTIVE: Sedation may be needed for safe, effective completion of pediatric dental procedures. Procedural sedation is performed in a children's hospital based dental office. The three sedation approaches: a propofol-only (P-O) approach (2-3 mg/kg titrated to the needed level of sedation), an approach that includes either i.v. ketamine (K+P) (0.25 or 0.5 mg/kg) or i.v. fentanyl (F+P) (0.5-1 mcg/kg) prior to propofol administration. We sought to determine safety and efficacy of various propofol based sedation protocols...
2016: Journal of Clinical Pediatric Dentistry
A Razzaque Ahmed, Shawn Shetty, Srini Kaveri, Zachary S Spigelman
BACKGROUND: Bullous pemphigoid is an autoimmune blistering skin disease that predominantly affects the elderly. Conventional therapy using high-dose systemic corticosteroids and immunosuppressive agents can be ineffective in some patients and produce adverse events and relapses. Hence, alternate therapies are required. OBJECTIVE: The clinical outcomes of patients with extensive, recalcitrant bullous pemphigoid treated with a combination therapy of rituximab (RTX) and intravenous immunoglobulin were evaluated...
April 2016: Journal of the American Academy of Dermatology
Taksim Ahmed, Amany O Kamel, Shawn D Wettig
Nonviral gene therapy using gemini surfactants is a unique approach to medicine that can be adapted toward the treatment of various diseases. Recently, gemini surfactants have been utilized as candidates for the formation of nonviral vectors. The chemical structure of the surfactant (variations in the alkyl tail length and spacer/head group) and the resulting physicochemical properties of the lipoplexes are critical parameters for efficient gene transfection. Moreover, studying the interaction of the surfactant with DNA can help in designing an efficient vector and understanding how transfection complexes overcome various cellular barriers...
February 2016: Nanomedicine
Taksim Ahmed, Amany O Kamel, Shawn D Wettig
Nonviral gene delivery, provides distinct treatment modalities for the inherited and acquired diseases, relies upon the encapsulation of a gene of interest, which is then ideally delivered to the target cells. Variations in the chemical structure of gemini surfactants and subsequent physicochemical characteristics of the gemini-based lipoplexes and their impact on efficient gene transfection were assessed in part I, which was published in first March 2016 issue of Nanomedicine (1103). In order to design an efficient vector using gemini surfactants, the interaction of the surfactant with DNA and other components of the delivery system must be characterized, and more critically, well understood...
February 2016: Nanomedicine
Jessica D Sims, Jae Youn Hwang, Shawn Wagner, Felix Alonso-Valenteen, Chris Hanson, Jan Michael Taguiam, Richard Polo, Ira Harutyunyan, Gevorg Karapetyan, Karn Sorasaenee, Ahmed Ibrahim, Eduardo Marban, Rex Moats, Harry B Gray, Zeev Gross, Lali K Medina-Kauwe
Water-soluble corroles with inherent fluorescence can form stable self-assemblies with tumor-targeted cell penetration proteins, and have been explored as agents for optical imaging and photosensitization of tumors in pre-clinical studies. However, the limited tissue-depth of excitation wavelengths limits their clinical applicability. To examine their utility in more clinically-relevant imaging and therapeutic modalities, here we have explored the use of corroles as contrast enhancing agents for magnetic resonance imaging (MRI), and evaluated their potential for tumor-selective delivery when encapsulated by a tumor-targeted polypeptide...
November 10, 2015: Journal of Controlled Release: Official Journal of the Controlled Release Society
William H Goodson, Leroy Lowe, David O Carpenter, Michael Gilbertson, Abdul Manaf Ali, Adela Lopez de Cerain Salsamendi, Ahmed Lasfar, Amancio Carnero, Amaya Azqueta, Amedeo Amedei, Amelia K Charles, Andrew R Collins, Andrew Ward, Anna C Salzberg, Annamaria Colacci, Ann-Karin Olsen, Arthur Berg, Barry J Barclay, Binhua P Zhou, Carmen Blanco-Aparicio, Carolyn J Baglole, Chenfang Dong, Chiara Mondello, Chia-Wen Hsu, Christian C Naus, Clement Yedjou, Colleen S Curran, Dale W Laird, Daniel C Koch, Danielle J Carlin, Dean W Felsher, Debasish Roy, Dustin G Brown, Edward Ratovitski, Elizabeth P Ryan, Emanuela Corsini, Emilio Rojas, Eun-Yi Moon, Ezio Laconi, Fabio Marongiu, Fahd Al-Mulla, Ferdinando Chiaradonna, Firouz Darroudi, Francis L Martin, Frederik J Van Schooten, Gary S Goldberg, Gerard Wagemaker, Gladys N Nangami, Gloria M Calaf, Graeme Williams, Gregory T Wolf, Gudrun Koppen, Gunnar Brunborg, H Kim Lyerly, Harini Krishnan, Hasiah Ab Hamid, Hemad Yasaei, Hideko Sone, Hiroshi Kondoh, Hosni K Salem, Hsue-Yin Hsu, Hyun Ho Park, Igor Koturbash, Isabelle R Miousse, A Ivana Scovassi, James E Klaunig, Jan Vondráček, Jayadev Raju, Jesse Roman, John Pierce Wise, Jonathan R Whitfield, Jordan Woodrick, Joseph A Christopher, Josiah Ochieng, Juan Fernando Martinez-Leal, Judith Weisz, Julia Kravchenko, Jun Sun, Kalan R Prudhomme, Kannan Badri Narayanan, Karine A Cohen-Solal, Kim Moorwood, Laetitia Gonzalez, Laura Soucek, Le Jian, Leandro S D'Abronzo, Liang-Tzung Lin, Lin Li, Linda Gulliver, Lisa J McCawley, Lorenzo Memeo, Louis Vermeulen, Luc Leyns, Luoping Zhang, Mahara Valverde, Mahin Khatami, Maria Fiammetta Romano, Marion Chapellier, Marc A Williams, Mark Wade, Masoud H Manjili, Matilde E Lleonart, Menghang Xia, Michael J Gonzalez, Michalis V Karamouzis, Micheline Kirsch-Volders, Monica Vaccari, Nancy B Kuemmerle, Neetu Singh, Nichola Cruickshanks, Nicole Kleinstreuer, Nik van Larebeke, Nuzhat Ahmed, Olugbemiga Ogunkua, P K Krishnakumar, Pankaj Vadgama, Paola A Marignani, Paramita M Ghosh, Patricia Ostrosky-Wegman, Patricia A Thompson, Paul Dent, Petr Heneberg, Philippa Darbre, Po Sing Leung, Pratima Nangia-Makker, Qiang Shawn Cheng, R Brooks Robey, Rabeah Al-Temaimi, Rabindra Roy, Rafaela Andrade-Vieira, Ranjeet K Sinha, Rekha Mehta, Renza Vento, Riccardo Di Fiore, Richard Ponce-Cusi, Rita Dornetshuber-Fleiss, Rita Nahta, Robert C Castellino, Roberta Palorini, Roslida Abd Hamid, Sabine A S Langie, Sakina E Eltom, Samira A Brooks, Sandra Ryeom, Sandra S Wise, Sarah N Bay, Shelley A Harris, Silvana Papagerakis, Simona Romano, Sofia Pavanello, Staffan Eriksson, Stefano Forte, Stephanie C Casey, Sudjit Luanpitpong, Tae-Jin Lee, Takemi Otsuki, Tao Chen, Thierry Massfelder, Thomas Sanderson, Tiziana Guarnieri, Tove Hultman, Valérian Dormoy, Valerie Odero-Marah, Venkata Sabbisetti, Veronique Maguer-Satta, W Kimryn Rathmell, Wilhelm Engström, William K Decker, William H Bisson, Yon Rojanasakul, Yunus Luqmani, Zhenbang Chen, Zhiwei Hu
Lifestyle factors are responsible for a considerable portion of cancer incidence worldwide, but credible estimates from the World Health Organization and the International Agency for Research on Cancer (IARC) suggest that the fraction of cancers attributable to toxic environmental exposures is between 7% and 19%. To explore the hypothesis that low-dose exposures to mixtures of chemicals in the environment may be combining to contribute to environmental carcinogenesis, we reviewed 11 hallmark phenotypes of cancer, multiple priority target sites for disruption in each area and prototypical chemical disruptors for all targets, this included dose-response characterizations, evidence of low-dose effects and cross-hallmark effects for all targets and chemicals...
June 2015: Carcinogenesis
Luciana E Leopold, Bree N Heestand, Soobin Seong, Ludmila Shtessel, Shawn Ahmed
Single-copy transgenes in Caenorhabditis elegans can be subjected to a potent, irreversible silencing process termed small RNA-induced epigenetic silencing (RNAe). RNAe is promoted by the Piwi Argonaute protein PRG-1 and associated Piwi-interacting RNAs (piRNAs), as well as by proteins that promote and respond to secondary small interfering RNA (siRNA) production. Here we define a related siRNA-mediated silencing process, termed "multigenerational RNAe," which can occur for transgenes that are maintained in a hemizygous state for several generations...
May 19, 2015: Proceedings of the National Academy of Sciences of the United States of America
A Razzaque Ahmed, Shawn Shetty
Rituximab is a chimeric monoclonal antibody that selectively binds to the CD20 molecule on B cells, resulting in their lysis. In autoimmune blistering diseases, the auto-antibody-producing B cells are destroyed and auto-antibody levels are reduced or eliminated. In the majority of patients, rituximab produces rapid clinical response and early resolution. In part, this accounts for the increased use of rituximab. Rituximab does not distinguish normal from pathologic B cells. Hence, shortly after its use, B-cell levels are zero and remain so for several months...
June 2015: American Journal of Clinical Dermatology
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