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800 result(s) for "Palacio, J."
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Auggie & me : three Wonder stories
\"These stories are an extra peek at Auggie, a boy born with extreme facial abnormalities, before he started at Beecher Prep and during his first year there. Readers get to see him through the eyes of Julian, the bully; Christopher, Auggie's oldest friend; and Charlotte, Auggie's new friend at school\"-- Provided by publisher.
A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD
In previous studies of a genetic isolate, we identified significant linkage of attention deficit hyperactivity disorder (ADHD) to 4q, 5q, 8q, 11q and 17p. The existence of unique large size families linked to multiple regions, and the fact that these families came from an isolated population, we hypothesized that two-locus interaction contributions to ADHD were plausible. Several analytical models converged to show significant interaction between 4q and 11q ( P <1 × 10 −8 ) and 11q and 17p ( P <1 × 10 −6 ). As we have identified that common variants of the LPHN3 gene were responsible for the 4q linkage signal, we focused on 4q–11q interaction to determine that single-nucleotide polymorphisms (SNPs) harbored in the LPHN3 gene interact with SNPs spanning the 11q region that contains DRD2 and NCAM1 genes, to double the risk of developing ADHD. This interaction not only explains genetic effects much better than taking each of these loci effects by separated but also differences in brain metabolism as depicted by proton magnetic resonance spectroscopy data and pharmacogenetic response to stimulant medication. These findings not only add information about how high order genetic interactions might be implicated in conferring susceptibility to develop ADHD but also show that future studies of the effects of genetic interactions on ADHD clinical information will help to shape predictive models of individual outcome.
Clinical outcome of patients with COVID-19 Pneumonia treated with corticosteroids and colchicine in Colombia
Background To date, there is no specific antiviral therapy for severe acute respiratory syndrome Coronavirus 2 (SARS-CoV-2) that causes Coronavirus disease 2019 (Covid-19). Since there is no specific therapy against SARS-CoV2, current efforts aim to prevent contagion through public health measures and develop a protective vaccine. While waiting for the latter, it is necessary to evaluate the drugs that at least, in initial studies, suggested some degree of utility in the management of Covid-19 or its complications. The main objective of the study was to describe the clinical manifestations and outcomes of patients with severe Covid-19 Pneumonia treated with corticosteroids and colchicine. Materials and methods A cross sectional study of 301 adult patients with Covid-19 Pneumonia confirmed by Real-Time Polymerase Chain Reaction for SARS-CoV2 (RT-PCR SARS-CoV2), Berlin protocol, who required hospitalization in three hospitals in Antioquia, Colombia. Patients were treated according to the institutional protocol (from March 20, 2020 to June 30, 2020) with corticosteroid if the patient required supplemental oxygen. From July 1, 2020, the management protocol changed with the addition of colchicine to all patients admitted to the institutions. The treatment was supervised and monitored by the same specialist in Infectology of the institutions. We describe the clinical manifestations and outcomes of the patients who received these treatments. The information of the patients was analyzed according to the outcome of interest (alive/dead) with univariate, bivariate, and multivariate measures to adjust the variables that presented statistical association. Results All patients had pneumonia documented by chest computed tomography with ground glass images and presented an alveolar pressure/inspired oxygen fraction (PaFi) less than 300. Three hundred one patients were included, 240 (79.7%) received corticosteroids, within these 145 (48.2%) received colchicine also, and the remaining 61 (20.3%) patients did not receive corticosterioids or colchicine. Mortality in the group that received colchicine was lower compared to the group that did not receive it (9.6 vs 14.6%, p-value = 0.179). Conclusions Treatment with corticosteroids and colchicine for managing patients with severe Covid-19 Pneumonia was associated with low mortality at the hospital level. Randomized, placebo-controlled studies are required to evaluate the effect of corticosteroids and colchicine on complications or death from Covid-19.
Wonder
Ten-year-old Auggie Pullman, who was born with extreme facial abnormalities and was not expected to survive, goes from being home-schooled to entering fifth grade at a private middle school in Manhattan, which entails enduring the taunting and fear of his classmates as he struggles to be seen as just another student.
A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication
Attention-Deficit/Hyperactivity Disorder (ADHD) has a very high heritability (0.8), suggesting that about 80% of phenotypic variance is due to genetic factors. We used the integration of statistical and functional approaches to discover a novel gene that contributes to ADHD. For our statistical approach, we started with a linkage study based on large multigenerational families in a population isolate, followed by fine mapping of targeted regions using a family-based design. Family- and population-based association studies in five samples from disparate regions of the world were used for replication. Brain imaging studies were performed to evaluate gene function. The linkage study discovered a genome region harbored in the Latrophilin 3 gene ( LPHN3). In the world-wide samples (total n =6360, with 2627 ADHD cases and 2531 controls) statistical association of LPHN3 and ADHD was confirmed. Functional studies revealed that LPHN3 variants are expressed in key brain regions related to attention and activity, affect metabolism in neural circuits implicated in ADHD, and are associated with response to stimulant medication. Linkage and replicated association of ADHD with a novel non-candidate gene ( LPHN3 ) provide new insights into the genetics, neurobiology, and treatment of ADHD.
أنا وأوغي : ثلاث قصص أعجوبة
يمنح كتاب (أوغي وأنا) القراء رؤية خاصة لعالم أوغي عبر ثلاث وجهات نظر جديدة حيث تعتبر هذه القصص رؤية من منظور مختلف لشخصية أوغي قبل أن يلتحق بمدرسة بيتشر الإعدادية وأثناء عامه الأول بها فيراه القراء تارة بعيني جوليان المتنمر وكريستوفر الصديق القديم لأوغي وتشارلوت الصديقة الجديدة لأوغي في المدرسة وتمثل هذه القصص الثلاثة كنزا للقراء الذين لا يريدون طي صفحة أوغي.
WIMP dark matter as radiative neutrino mass messenger
A bstract The minimal seesaw extension of the Standard SU(3) c ⊗SU(2) L ⊗U(1) Y Model requires two electroweak singlet fermions in order to accommodate the neutrino oscillation parameters at tree level. Here we consider a next to minimal extension where light neutrino masses are generated radiatively by two electroweak fermions: one singlet and one triplet under SU(2) L . These should be odd under a parity symmetry and their mixing gives rise to a stable weakly interactive massive particle (WIMP) dark matter candidate. For mass in the GeV-TeV range, it reproduces the correct relic density, and provides an observable signal in nuclear recoil direct detection experiments. The fermion triplet component of the dark matter has gauge interactions, making it also detectable at present and near future collider experiments.
365 Days of Wonder : Mr. Browne's Book of Precepts
\"A book of precepts, with one saying for each day, from Auggie's teacher Mr. Brown\"-- Provided by publisher.
AB1513 ECONOMIC IMPACT AND CLINICAL OUTCOMES WITH THE SWITCH TO BIOSIMILARS IN A COHORT OF PATIENTS WITH RHEUMATOID ARTHRITIS AND SPONDYLOARTHRITIS IN A SPECIALIZED CENTER IN BOGOTÁ-COLOMBIA
Background:Biosimilars may represent an important opportunity to improve allocation efficiency in the biologics market due to their lower cost compared to that of originator biologics and are expected to generate significant savings for healthcare systems in even more countries of emerging economiesObjectives:Determine the economic impact of the switch to biosimilars in a cohort of patients with rheumatoid arthritis (RA) and spondyloarthritis (SpA) who attend a comprehensive management program at Risk of Fracture S.A-CAYRE and describe their clinical characteristicsMethods:Descriptive observational study of a cohort of adult patients diagnosed with RA and EAS who had been receiving the reference products and switched to treatment with the biosimilars available in the country (rituximab, adalimumab, infliximab and etanercept) over a time horizon of 1 year. from December 1, 2022 to November 30, 2023. To calculate the value of the medicines, the SISPRO platform was used, averaging the price of the medicine. TRM US dollar: COP $3929.79.Results:In our cohort we have 1308 patients with RA and 219 patients with SpA. In the group of patients with RA, 301 (23%) receive biological therapy and of them 141 (47%) were switched to biosimilars. For the SpA group, 138 (63%) receive biological therapy and of these 82(59%) patients were switched to biosimilars. The average age for patients receiving biosimilars with RA and SpA is 57.5 years (DS11.7) and 50.2 years (DS12.9) respectively. 89% are women in the RA group and 68% are men in the SpA group. The average disease duration for RA and SpA is 15.6 years (SD10.6) and 9.3 (SD8.9) respectively. 77% are double seropositive in RA. 56% in the SpA group are HLA B27 positive and sacroiliitis is present in 59% of patients. In patients with RA, 28% and 24% have erosions on X-rays of their hands and feet, respectively. Regarding concomitant medications in RA, 28.1% receive methotrexate and 20% leflunomide, with 24% receiving biosimilars in monotherapy. In 50% and 71% the biosimilar is the first line of biological treatment for patients with RA and SpA respectively and in the second line in 27% and 17% respectively. Prior to the start of the use of the biosimilar, patients with RA were in remission and low activity measured by DAS28 64% and 12% respectively and one year after receiving the biosimilar they were in remission and low activity 77% and 9% respectively. In the case of patients with SpA, the measurement by ASDAS prior to the start of the biosimilar showed inactivity of the disease 55% and low activity 25% and after one year of receiving biosimilar the inactivity was 75% and 14% in low activity. The savings from biosimilar use during the year in patients with RA was USD 166771 and in patients with SpA was USD 180711. Only 2 patients receiving adalimumab returned to the reference product, 1 with RA and another with SpA.Conclusion:With the switch to biosimilars in this cohort of patients with RA and SpA, significant savings are evident for the health system while maintaining adequate control of the disease, without an increase in adverse effects.REFERENCES:NIL.Acknowledgements:NIL.Disclosure of Interests:Edwin Jauregui abbvie, biopass, Deisy Restrepo: None declared, Jorge Palacio: None declared, JEIMY A CHAPARRO: None declared, Rossana Alicia Mejia Romero Jannsen, Juan Salazar Jannsen, Alejandro Rodriguez: None declared.