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https://www.readbyqxmd.com/read/29784638/syndromic-congenital-myelofibrosis-associated-with-a-loss-of-function-variant-in-rbsn
#1
Pilar L Magoulas, Oleg A Shchelochkov, Matthew N Bainbridge, Shay Ben-Shachar, Svetlana Yatsenko, Lorraine Potocki, Richard Alan Lewis, Charles Searby, Andrea N Marcogliese, M Tarek Elghetany, Gladys Zapata, Paula Patricia Hernández, Manasi Gadkari, Derek Einhaus, Donna M Muzny, Richard A Gibbs, Alison A Bertuch, Daryl A Scott, Silvia Corvera, Luis M Franco
No abstract text is available yet for this article.
May 21, 2018: Blood
https://www.readbyqxmd.com/read/29782634/long-term-follow-up-of-biomarkers-of-podocyte-damage-and-renal-function-in-patients-with-and-without-preeclampsia
#2
Ylbe Palacios de Franco, Karina Velazquez, Natalia Segovia, Gladys Sandoval, Estefania Gauto, Ylbe V Franco Palacios, Carlos R Franco Palacios
INTRODUCTION: preeclampsia can be associated with future renal disease. OBJECTIVES: To measure changes in renal function overtime in patients with preeclampsia. METHODS: urine and serum samples from eleven patients with preeclampsia and eight patients with a normal pregnancy were obtained during pregnancy, postpartum, and 3 years after delivery. Urine podocalyxin, protein, and serum creatinine were measured. RESULTS: after 3 years, there were no significant differences in urinary podocalyxin in patients with or without preeclampsia: 4...
May 17, 2018: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29772371/decompressive-craniectomy-for-traumatic-brain-injury-the-role-of-cranioplasty-and-hydrocephalus-on-outcome
#3
Davide Nasi, Mauro Dobran, Alessandro Di Rienzo, Lucia di Somma, Maurizio Gladi, Elisa Moriconi, Massimo Scerrati, Maurizio Iacoangeli
OBJECTIVE: After severe traumatic brain injury (sTBI) associated with uncontrollable high intracranial pressure (ICP), still today the main challenge for neurosurgeons remains to identify who may obtain benefit from decompressive craniectomy (DC) and which factors after DC influence the prognosis of these patients. The aim of this paper was to identify the pre and post-operative determinants of outcome after DC. METHODS: This retrospective study included all patients undergoing DC for sTBI from 2003 to 2011...
May 14, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29754419/integration-of-t-cell-receptor-notch-and-cytokine-signals-programs-in-mouse-%C3%AE-%C3%AE-t-cell-effector-differentiation
#4
Payam Zarin, Tracy S H In, Edward L Y Chen, Jastaranpreet Singh, Gladys W Wong, Mahmood Mohtashami, David L Wiest, Michele K Anderson, Juan Carlos Zúñiga-Pflücker
γδ T-cells perform a wide range of tissue and disease specific functions that are dependent on the effector cytokines produced by these cells. However, the aggregate signals required for the development of interferon-γ (IFNγ) and interleukin-17 (IL-17) producing γδ T-cells remain unknown. Here, we define the cues involved in the functional programming of γδ T-cells, by examining the roles of T-cell receptor (TCR), Notch, and cytokine-receptor signaling. KN6 γδTCR-transduced Rag2-/- T-cell progenitors were cultured on stromal cells variably expressing TCR and Notch ligands, supplemented with different cytokines...
May 13, 2018: Immunology and Cell Biology
https://www.readbyqxmd.com/read/29754207/acute-toxicity-of-ammonia-nitrite-and-nitrate-to-shrimp-litopenaeus-vannamei-postlarvae-in-low-salinity-water
#5
Gladys Valencia-Castañeda, Martin G Frías-Espericueta, Ruth C Vanegas-Pérez, Jesús A Pérez-Ramírez, María C Chávez-Sánchez, Federico Páez-Osuna
Shrimp farming in low salinities waters is an alternative to increasing production, and counteracting disease problems in brackish and marine waters. However, in low-salinity waters, toxicity of nitrogen compounds increases, and there is no available data of its acute toxicity in shrimp postlarvae. This study determined the acute toxicity of ammonia, nitrite and nitrate in Litopenaeus vannamei postlarvae in 1 and 3 g/L salinity, as well as the safety levels. The LC50 confirms that nitrite is more toxic than ammonia and nitrate in low salinity waters, and that its toxicity increases with a decrease in salinity...
May 12, 2018: Bulletin of Environmental Contamination and Toxicology
https://www.readbyqxmd.com/read/29751121/evaluation-of-dried-blood-spot-sampling-for-pharmacokinetic-research-and-therapeutic-drug-monitoring-of-anti-tuberculosis-drugs-in-children
#6
Lisa C Martial, Jordy Kerkhoff, Nilza Martinez, Mabel Rodríguez, Rosarito Coronel, Gladys Molinas, Myriam Roman, Roscio Gomez, Sarita Aguirre, Erwin Jongedijk, Justine Huisman, Daan J Touw, Domingo Pérez, Gilberto Chaparro, Felipe Gonzalez, Rob E Aarnoutse, Jan-Willem Alffenaar, Cecile Magis-Escurra
BACKGROUND: Dried blood spot sampling (DBS) for pharmacokinetic (PK) studies and Therapeutic Drug Monitoring has unique advantages over venous sampling. We aimed to evaluate a DBS method for first-line anti-TB drugs in children, implemented DBS to assess PK parameters. METHODS: Paraguayan children were treated according to the revised paediatric WHO dosing scheme. A PK curve was performed both with DBS and conventional venous sampling for rifampicin, pyrazinamide and ethambutol...
May 8, 2018: International Journal of Antimicrobial Agents
https://www.readbyqxmd.com/read/29748674/laser-induced-formation-of-bismuth-nanoparticles
#7
Marcelo Assis, Eloísa Cordoncillo, Rafael Torres-Mendieta, Héctor Beltrán-Mir, Gladys Mínguez-Vega, Amanda Fernandes Gouveia, Edson Leite, Juan Andrés, Elson Longo
In the current communication, the synthesis of metallic Bi nanoparticles with coexisting crystallographic structures (rhombohedral, monoclinic, and cubic) obtained via direct femtosecond laser irradiation of NaBiO3 is demonstrated for the first time. By exploring the use of high laser power values, it is revealed that the promoted laser-mediated reactions lead to the synthesis of coexisting phases in metal nanoparticles, which may be a widely occurring phenomenon in other materials under femtosecond laser irradiation, and a fundamental concern for laser-based nanofabrication...
May 11, 2018: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/29747688/immune-checkpoint-inhibitor-induced-diarrhea-and-colitis-in-patients-with-advanced-malignancies-retrospective-review-at-md-anderson
#8
Yinghong Wang, Hamzah Abu-Sbeih, Emily Mao, Noman Ali, Faisal Shaukat Ali, Wei Qiao, Phillip Lum, Gottumukkala Raju, Gladis Shuttlesworth, John Stroehlein, Adi Diab
BACKGROUND: Immune checkpoint inhibitors (ICPIs) are gaining increasing popularity as an efficacious treatment for advanced malignancies. ICPI treatment can be complicated by diarrhea and colitis. Systemic steroids are the first line treatment. Infliximab is reserved for severe refractory cases. We aimed to assess the impact of ICPI-induced diarrhea and colitis and their immunosuppressive treatment on patients' outcomes. METHODS: This retrospective analysis was conducted in 327 cancer patients who received ICPIs between 2011 and 2017...
May 11, 2018: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/29743175/genomic-model-with-correlation-between-additive-and-dominance-effects
#9
Tao Xiang, Ole Fredslund Christensen, Zulma Gladis Vitezica, Andres Legarra
Dominance genetic effects are rarely included in pedigree-based genetic evaluation. With the availability of single nucleotide polymorphism markers and the development of genomic evaluation, estimates of dominance genetic effects have become feasible using genomic best linear unbiased prediction (GBLUP). Usually, studies involving additive and dominance genetic effects ignore possible relationships between them. It has been often suggested that the magnitude of functional additive and dominance effects at the quantitative trait loci are related, but there is no existing GBLUP-like approach accounting for such correlation...
May 9, 2018: Genetics
https://www.readbyqxmd.com/read/29733699/ankle-positions-potentially-facilitating-greater-maximal-contraction-of-pelvic-floor-muscles-a-systematic-review-and-meta-analysis
#10
Priya Kannan, Stanley Winser, Ravindra Goonetilleke, Gladys Cheing
OBJECTIVES: To evaluate the effect of ankle positions on pelvic floor muscles in women. METHODS: Multiple databases were searched from inception-July 2017. Study quality was rated using the grading of recommendations, assessment, development, and evaluation system and the "threats to validity tool". RESULTS: Four studies were eligible for inclusion. Meta-analysis revealed significantly greater resting activity of pelvic floor muscles in neutral ankle position (-1...
May 7, 2018: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29728734/incidence-predictive-factors-management-and-survival-impact-of-atrial-fibrillation-in-non-hodgkin-lymphoma
#11
Marc Sorigue, Francisco Gual-Capllonch, Olga Garcia, Edurne Sarrate, Mireia Franch-Sarto, Gladys Ibarra, Javier Grau, Elisa Orna, Josep-Maria Ribera, Juan-Manuel Sancho
Atrial fibrillation (AF) and cancer are common disorders in the general population but there are few studies in patients with both diseases. More specifically, there are scarce data on AF in patients with non-Hodgkin lymphoma (NHL). We assessed the incidence, predictive factors, management, and survival impact of AF in a cohort of patients with NHL from a single institution between 2002 and 2016 (n = 747). Twenty-three patients were diagnosed with AF before and 40 after the diagnosis of NHL (of the later, 16 were secondary to an extracardiac comorbidity and 24 unrelated to any triggering event [primary AF])...
May 4, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29725192/african-american-clergy-perspectives-about-the-hiv-care-continuum-results-from-a-qualitative-study-in-jackson-mississippi
#12
Amy Nunn, Sharon Parker, Katryna McCoy, Mauda Monger, Melverta Bender, Joanna Poceta, Julia Harvey, Gladys Thomas, Kendra Johnson, Yusuf Ransome, Cassandra Sutten Coats, Phil Chan, Leandro Mena
Mississippi has some of the most pronounced racial disparities in HIV infection in the country; African Americans comprised 37% of the Mississippi population but represented 80% of new HIV cases in 2015. Improving outcomes along the HIV care continuum, including linking and retaining more individuals and enhancing adherence to medication, may reduce the disparities faced by African Americans in Mississippi. Little is understood about clergy's views about the HIV care continuum. We assessed knowledge of African American pastors and ministers in Jackson, Mississippi about HIV and the HIV care continuum...
2018: Ethnicity & Disease
https://www.readbyqxmd.com/read/29720948/the-oxygen-consumption-and-metabolic-cost-of-walking-and-running-in-adults-with-achondroplasia
#13
David T Sims, Gladys L Onambélé-Pearson, Adrian Burden, Carl Payton, Christopher I Morse
The disproportionate body mass and leg length of Achondroplasic individuals may affect their net oxygen consumption ([Formula: see text]O2 ) and metabolic cost (C) when walking at running compared to those of average stature (controls). The aim of this study was to measure submaximal [Formula: see text]O2 and C during a range of set walking speeds (SWS; 0.56 - 1.94 m⋅s-1 , increment 0.28 m⋅s-1 ), set running speeds (SRS; 1.67 - 3.33 m⋅s-1 , increment 0.28 m⋅s-1 ) and a self-selected walking speed (SSW)...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29718308/endoscopic-and-histologic-features-of-immune-checkpoint-inhibitor-related-colitis
#14
Yinghong Wang, Hamzah Abu-Sbeih, Emily Mao, Noman Ali, Wei Qiao, Van Anh Trinh, Chrystia Zobniw, Daniel Hartman Johnson, Rashmi Samdani, Phillip Lum, Gladis Shuttlesworth, Boris Blechacz, Robert Bresalier, Ethan Miller, Selvi Thirumurthi, David Richards, Gottumukkala Raju, John Stroehlein, Adi Diab
Background: Diarrhea and colitis are the second most common immune checkpoint inhibitor (ICPI)-induced adverse events. However, a comprehensive characterization of the endoscopic and histologic features of ICPI-induced diarrhea and colitis is lacking. Therefore, we aimed to describe endoscopic and histologic features of ICPI-induced gastrointestinal toxicities and to assess their association with patients' clinical characteristics and outcomes. Methods: We retrospectively reviewed records of 53 patients with ICPI-related diarrhea/colitis between 2011 and 2017...
April 27, 2018: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/29717179/transplantation-of-human-microbiota-into-conventional-mice-durably-reshapes-the-gut-microbiota
#15
Laura Wrzosek, Dragos Ciocan, Patrick Borentain, Madeleine Spatz, Virginie Puchois, Cindy Hugot, Gladys Ferrere, Camille Mayeur, Gabriel Perlemuter, Anne-Marie Cassard
Human microbiota-associated (HMA) mice are an important model to study the relationship between liver diseases and intestinal microbiota. We describe a new method to humanize conventional mice based on bowel cleansing with polyethylene glycol followed by fecal microbiota transplantation (FMT) from a human donor. Four successive bowel cleansings were sufficient to empty the intestine and decrease the microbiota by 90%. We then compared four different strategies based on the frequency of FMT over four weeks: (1) twice a week; (2) once a week; (3) two FMTs; (4) one FMT...
May 1, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29716008/tailoring-the-spatio-temporal-distribution-of-diffractive-focused-ultrashort-pulses-through-pulse-shaping
#16
Benjamín Alonso, Jorge Pérez-Vizcaíno, Gladys Mínguez-Vega, Íñigo J Sola
Focusing control of ultrashort pulsed beams is an important research topic, due to its impact to subsequent interaction with matter. In this work, we study the propagation near the focus of ultrashort laser pulses of ~25 fs duration under diffractive focusing. We perform the spatio-spectral and spatio-temporal measurements of their amplitude and phase, complemented by the corresponding simulations. With them, we demonstrate that pulse shaping allows modifying in a controlled way not only the spatio-temporal distribution of the light irradiance in the focal region, but also the way it propagates as well as the frequency distribution within the pulse (temporal chirp)...
April 16, 2018: Optics Express
https://www.readbyqxmd.com/read/29713407/the-incidence-of-adjacent-segment-degeneration-after-the-use-of-a-versatile-dynamic-hybrid-stabilization-device-in-lumbar-stenosis-results-of-a-5-8-year-follow-up
#17
Mauro Dobran, Davide Nasi, Domenico Paolo Esposito, Maurizio Gladi, Massimo Scerrati, Maurizio Iacoangeli
Study Design: Retrospective study with long-term follow-up. Purpose: To evaluate the long-term incidence of adjacent segment degeneration (ASD) and clinical outcomes in a consecutive series of patients who underwent spinal decompression associated with dynamic or hybrid stabilization with a Flex+TM stabilization system (SpineVision, Antony, France) for lumbar spinal stenosis. Overview of Literature: The incidence of ASD and clinical outcomes following dynamic or hybrid stabilization with the Flex+TM system used for lumbar spinal stenosis have not been well investigated...
April 2018: Asian Spine Journal
https://www.readbyqxmd.com/read/29713348/a-case-of-nongerminomatous-germ-cell-tumor-of-the-pineal-region-risks-and-advantages-of-biopsy-by-endoscopic-approach
#18
Mauro Dobran, Davide Nasi, Fabrizio Mancini, Maurizio Gladi, Massimo Scerrati
A 21-year-old male was admitted to our department with headache and drowsiness. CT scan and MRI revealed acute obstructive hydrocephalus caused by a pineal region mass. The serum and CSF levels of beta-human chorionic gonadotropin (beta-hCG) were 215 IU/L and 447 IU/L, respectively, while levels of alpha-fetoprotein (AFP) were normal. A germ cell tumor (GCT) was suspected, and the patient underwent endoscopic third ventriculostomy (ETV) with biopsy. After four days from surgery, the tumor bled with mass expansion and ETV stoma occlusion; thus, a ventriculoperitoneal shunt was positioned...
2018: Case Reports in Medicine
https://www.readbyqxmd.com/read/29708987/phagocytic-response-of-astrocytes-to-damaged-neighboring-cells
#19
Nicole M Wakida, Gladys Mae S Cruz, Clarissa C Ro, Emmanuel G Moncada, Nima Khatibzadeh, Lisa A Flanagan, Michael W Berns
This study aims to understand the phagocytic response of astrocytes to the injury of neurons or other astrocytes at the single cell level. Laser nanosurgery was used to damage individual cells in both primary mouse cortical astrocytes and an established astrocyte cell line. In both cases, the release of material/substances from laser-irradiated astrocytes or neurons induced a phagocytic response in near-by astrocytes. Propidium iodide stained DNA originating from irradiated cells was visible in vesicles of neighboring cells, confirming phagocytosis of material from damaged cortical cells...
2018: PloS One
https://www.readbyqxmd.com/read/29706353/patient-ipsc-derived-kidney-organoids-show-functional-validation-of-a-ciliopathic-renal-phenotype-and-reveal-underlying-pathogenetic-mechanisms
#20
Thomas A Forbes, Sara E Howden, Kynan Lawlor, Belinda Phipson, Jovana Maksimovic, Lorna Hale, Sean Wilson, Catherine Quinlan, Gladys Ho, Katherine Holman, Bruce Bennetts, Joanna Crawford, Peter Trnka, Alicia Oshlack, Chirag Patel, Andrew Mallett, Cas Simons, Melissa H Little
Despite the increasing diagnostic rate of genomic sequencing, the genetic basis of more than 50% of heritable kidney disease remains unresolved. Kidney organoids differentiated from induced pluripotent stem cells (iPSCs) of individuals affected by inherited renal disease represent a potential, but unvalidated, platform for the functional validation of novel gene variants and investigation of underlying pathogenetic mechanisms. In this study, trio whole-exome sequencing of a prospectively identified nephronophthisis (NPHP) proband and her parents identified compound-heterozygous variants in IFT140, a gene previously associated with NPHP-related ciliopathies...
April 21, 2018: American Journal of Human Genetics
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