Primer registro de crotalus polystictus (squamata: viperidae) en el área natural protegida sierra de Quila, Jalisco, México

Crotalus polystictus is a Mexican endemic rattlesnake. It is considered under special protection status according to NOM-059- 2010-SEMARNAT. Crotalus polystictus was recorded for the first time, along with its ecological distribution within the natural protected area Sierra de Quila, Jalisco. This record is at least 31 km northwest from its closest known geographic distribution.Crotalus polystictus es Una serpiente de cascabel endémica de México. Se considera bajo protección especial de acuerdo a la NOM-059-2010-SEMARNAT. Crotalus polystictus fue registrada por primera vez en el área Natural protegida Sierra de Quila, Jalisco. Este registro se encuentra a por lo mneos 31 km al noroeste del punto más cercano de su distribución conocida

Depredación de Lithobates psilonota (Anura: Ranidae) por Leptodeira splendida bressoni (Squamata: Colubridae) en arroyos del área natural protegida Sierra de Quila, Jalisco, México

Photographic evidence shows the first record of predation in Mexico of Lithobates psilonota by Leptodeira splendida bressoni in the natural protected area Sierra de Quila, Jalisco

Use of rituximab in pediatric patients with steroid-resistant nephrotic syndrome. A single center study

ABSTRACT: Steroids are the cornerstone of therapy for nephrotic syndrome (NS) with a remission rate as high as 90%. In patients who do not respond to them or are steroid dependent, other immunosuppressive drugs have been used. Although rituximab use in NS is off-label, many authors have published their experience with it. Objective and methods: To describe retrospectively a group of seven children with nephrotic syndrome, either steroid-dependent (SDNS) or steroid-resistant (SRNS), treated with rituximab and mycophenolate, at Pablo Tobón Uribe Hospital, in Medellín, Colombia. Results: Two patients with SDNS and five with SRNS were evaluated; median age at diagnosis was 2 years (p25-75: 1-5); six months after treatment with rituximab there was reduction in proteinuria (93%), in the steroid dose (100%) and in the relapse episodes. However, proteinuria reappeared 12 months after treatment. Conclusion: During the first year after rituximab treatment of NS there is reduction in proteinuria and in the steroid dose, but thereafter there is relapse. It is suggested to carry out another study using a second dose of rituximab one year after the first one.RESUMEN: Los esteroides son el tratamiento de elección del síndrome nefrótico con tasas de éxito hasta del 90%. En pacientes que no responden adecuadamente a ellos, se han usado diferentes esquemas de inmunosupresión. Objetivo y métodos: describir la respuesta terapéutica en un grupo de siete niños con síndrome nefrótico córtico-dependiente (SNCD) o córtico-resistente (SNCR) que recibieron tratamiento con rituximab y micofenolato mofetil en un hospital universitario de la ciudad de Medellín durante los años 2010-2012. Resultados: dos pacientes tenían SNCD y cinco, SNCR; la mediana de edad en el momento del diagnóstico fue de 2 años (p25-75: 1-5); seis meses después de la aplicación del rituximab se encontró disminución de la proteinuria en el 93% de los pacientes; los esteroides se lograron suspender en el 100%; además, disminuyó el número de recaídas; sin embargo, la proteinuria reapareció un año después de dicho tratamiento. Conclusión: con el rituximab disminuyen la proteinuria y la dosis de esteroides, pero la enfermedad recurre 12 meses después de usarlo. Se sugiere hacer otro estudio evaluando el efecto de una segunda dosis de rituximab al año de la primera

Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Funder: Funder: Fundación bancaria ‘La Caixa’ Number: LCF/PR/PR16/51110003 Funder: Grifols SA Number: LCF/PR/PR16/51110003 Funder: European Union/EFPIA Innovative Medicines Initiative Joint Number: 115975 Funder: JPco-fuND FP-829-029 Number: 733051061Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer's disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer's disease

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

New insights into the genetic etiology of Alzheimer's disease and related dementias

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world

Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic. Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality. Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States. Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis. Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection

Production of He-4 and (4) in Pb-Pb collisions at root(NN)-N-S=2.76 TeV at the LHC

Results on the production of He-4 and (4) nuclei in Pb-Pb collisions at root(NN)-N-S = 2.76 TeV in the rapidity range vertical bar y vertical bar <1, using the ALICE detector, are presented in this paper. The rapidity densities corresponding to 0-10% central events are found to be dN/dy4(He) = (0.8 +/- 0.4 (stat) +/- 0.3 (syst)) x 10(-6) and dN/dy4 = (1.1 +/- 0.4 (stat) +/- 0.2 (syst)) x 10(-6), respectively. This is in agreement with the statistical thermal model expectation assuming the same chemical freeze-out temperature (T-chem = 156 MeV) as for light hadrons. The measured ratio of (4)/He-4 is 1.4 +/- 0.8 (stat) +/- 0.5 (syst). (C) 2018 Published by Elsevier B.V.Peer reviewe

Measurement of the Splitting Function in &ITpp &ITand Pb-Pb Collisions at root&ITsNN&IT=5.02 TeV

Data from heavy ion collisions suggest that the evolution of a parton shower is modified by interactions with the color charges in the dense partonic medium created in these collisions, but it is not known where in the shower evolution the modifications occur. The momentum ratio of the two leading partons, resolved as subjets, provides information about the parton shower evolution. This substructure observable, known as the splitting function, reflects the process of a parton splitting into two other partons and has been measured for jets with transverse momentum between 140 and 500 GeV, in pp and PbPb collisions at a center-of-mass energy of 5.02 TeV per nucleon pair. In central PbPb collisions, the splitting function indicates a more unbalanced momentum ratio, compared to peripheral PbPb and pp collisions.. The measurements are compared to various predictions from event generators and analytical calculations.Peer reviewe