La importancia de la declaratoria de fábrica en la urbanización popular Perú del distrito de San Martín de Porres, 2021

En el presente trabajo de investigación nos planteamos como objetivo general determinar el vínculo que existe entre la declaratoria de fábrica y la seguridad jurídica. En tanto que, la metodología que se empleó corresponde al enfoque cualitativo siendo el tipo de investigación básica y el diseño de investigación basado en la teoría fundamentada, para así proceder a la realización de un adecuado estudio de los datos que lograron ser recopilados tomando en consideración el instrumento guía que sirvió para ello. Es la declaratoria de fabrica la inscripción de una edificación en el Registro de Predios, en el que se detallan las características y condiciones técnicas importantes de una propiedad bajo términos legales Que conforme al análisis de estudio en el presente trabajo se puede verificar que la construcción informal presenta altos índices y la Urbanización Popular Perú no escapa a esta realidad. Las causas son varias que van de la autoconstrucción que es realizada sin la asistencia del profesional, la cual surge ante la necesidad de vivienda, a veces por condiciones económicas de pobreza otras veces por desconocimiento de la normatividad legal técnica o simplemente no tomar en cuenta las consecuencias de su incumplimiento Por otro lado, la municipalidad procura subsanar esta irregularidad, sin embargo, es poca o casi nula la información y sensibilización al vecino siendo además el trámite oneroso y muchas veces engorroso por lo que los pobladores ven difícil lograr su regularización de declaratoria de fábrica. La importancia de realizar la declaratoria de fabrica de un inmueble permite obtener beneficios como aumentar el valor de la propiedad, otorgar el costo real de la edificación, realizar actos como compraventa bajo hipoteca bancaria, independizaciones, etc. x Es decir, la formalización de la declaratoria de fabrica persigue que la edificación sea legal y por ende amparada por el marco de la ley. En suma, en el trabajo se arribó a la conclusión de que existe un vínculo significativo entre la declaratoria de fábrica y la seguridad jurídica en la urbanización Popular Perú del Distrito de San Martin de Porres

Translating Evidence-Based Policy to Practice: A Multilevel Partnership Using the Interactive Systems Framework

This is the published version, made available with the permission of the publisher.Despite increases in federal allocations, little is known about how to ensure successful implementation of evidence-based programs. This descriptive case study using the Interactive Systems Framework for Dissemination and Implementation illustrates the Prevention Support System (PSS) implemented for one federal evidence-based policy initiative. Exploring perspectives of intermediary organizations, the article describes the impetus for promoting evidence-based programming, multilevel systemic change, and the collaborations to develop strategic partnerships between national and state entities. Two early adopters, Kansas and Nebraska, illustrate the general capacity-building technical assistance activities conducted to build a multilevel PSS. The article concludes with outcomes, lessons learned, and recommendations for building stronger implementation capacity

A study on the desulfurization of sulfidic mine tailings for the production of a sulfur-poor residue

The mining industry generates large amounts of tailings every year. The most common destination for the tailings is deposition in tailings storage facilities (TSFs), which can have enormous dimensions. The management and storage of such large volumes of material pose many challenges in terms of dam stability and immobilization of hazardous contaminants that represent human-health and environmental risks, particularly for sulfide-containing materials. In addition, considerable amounts of precious and base metals can be lost in the tailings. Due to the economic value and growing industrial demand for precious and base metals, tailings may therefore be potential sources of secondary raw materials. This contribution investigates the flotation of pyrite-rich tailings, containing residual chalcopyrite, galena, and sphalerite, and high amounts of ultrafine particles. Flotation was used to recover the sulfide minerals and generate tailings with low sulfur content. The Cu-Pb-Zn-rich product could go to further treatment (e.g. (bio)hydrometallurgy) to recover the metals, while the low sulfur fraction could be used in the civil construction industry. Automated mineralogy (MLA) was used to provide quantitative mineralogical and textural data. Bench-scale experiments were performed by combining classic flotation and floc flotation (flotation of flocs of targeted minerals). Flotation of the material as received, as well as after classification into two fractions was performed. The samples as received and the coarser fraction (+37 µm) underwent classic flotation, while the finer fraction (−37 µm) was processed either by using the classic or the floc flotation approach. The flotation of the coarser particles provided higher sulfide recoveries, higher combined Cu-Pb-Zn grades in the concentrate (3.66 %), cleaner residues (1.6 % S), faster flotation rates, and reduced reagent consumption. Likewise, the results from the fine particle flotation allowed lower S content in the residues (3.4 % S) as compared to the flotation of the original material. The results of the use of floc flotation for the finer fraction show an increase in the mass pull with a slight increase in the recovery of sulfides. Overall, the development of a route to process the tailings proved to be promising and the use of a two-route approach indicates advantages as compared to a single route

Live. Tell. Resist.

This edition of First-Gen Voices features the stories and work of 24 first-generation college students at multiple higher education institutions. The aim is to disseminate a story about us, for us, and consequently, the dominant cultures that have yet to learn from our power

Development and validation of DNA Methylation scores in two European cohorts augment 10-year risk prediction of type 2 diabetes

This is the author accepted manuscriptAvailability of Data and Material: According to the terms of consent for Generation Scotland participants, access to data must be reviewed by the Generation Scotland Access Committee. Applications should be made to [email protected]. All code is available with open access at the following Gitlab repository: https://github.com/marioni-group MethylPipeR (version 1.0.0) is available at: https://github.com/marioni-group/MethylPipeR MethylPipeR-UI is available at: https://github.com/marioni-group/MethylPipeR-UI. The informed consents given by KORA study participants do not cover data posting in public databases. However, data are available upon request from KORA Project Application Self Service Tool (https://epi.helmholtz-muenchen.de/). Data requests can be submitted online and are subject to approval by the KORA Board.Type 2 diabetes mellitus (T2D) presents a major health and economic burden that could be alleviated with improved early prediction and intervention. While standard risk factors have shown good predictive performance, we show that the use of blood-based DNA methylation information leads to a significant improvement in the prediction of 10-year T2D incidence risk. Previous studies have been largely constrained by linear assumptions, the use of CpGs one-at43 a-time, and binary outcomes. We present a flexible approach (via an R package, MethylPipeR) based on a range of linear and tree-ensemble models that incorporate time-to-event data for prediction. Using the Generation Scotland cohort (training set ncases=374, ncontrols=9,461; test set ncases=252, ncontrols=4,526) our best-performing model (Area Under the Curve (AUC)=0.872, Precision Recall AUC (PRAUC)=0.302) showed notable improvement in 10-year onset prediction beyond standard risk factors (AUC=0.839, PRAUC=0.227). Replication was observed in the German-based KORA study (n=1,451, ncases = 142, p=1.6x10-5 49 ).Wellcome TrustChief Scientist Office of the Scottish Government Health DirectoratesScottish Funding Counci

Genetic Variants at Chromosomes 2q35, 5p12, 6q25.1, 10q26.13, and 16q12.1 Influence the Risk of Breast Cancer in Men

Male breast cancer accounts for approximately 1% of all breast cancer. To date, risk factors for male breast cancer are poorly defined, but certain risk factors and genetic features appear common to both male and female breast cancer. Genome-wide association studies (GWAS) have recently identified common single nucleotide polymorphisms (SNPs) that influence female breast cancer risk; 12 of these have been independently replicated. To examine if these variants contribute to male breast cancer risk, we genotyped 433 male breast cancer cases and 1,569 controls. Five SNPs showed a statistically significant association with male breast cancer: rs13387042 (2q35) (odds ratio (OR)  = 1.30, p = 7.98×10−4), rs10941679 (5p12) (OR = 1.26, p = 0.007), rs9383938 (6q25.1) (OR = 1.39, p = 0.004), rs2981579 (FGFR2) (OR = 1.18, p = 0.03), and rs3803662 (TOX3) (OR = 1.48, p = 4.04×10−6). Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs—rs13387042 (2q35), rs3803662 (TOX3), and rs6504950 (COX11)—showed significant differences in ORs (p<0.05) between sexes. Breast cancer is a heterogeneous disease; the relative risks associated with loci identified to date show subtype and, based on these data, gender specificity. Additional studies of well-defined patient subgroups could provide further insight into the biological basis of breast cancer development

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.

BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare disease with an emerging genetic basis. Heterozygous mutations in the gene encoding the bone morphogenetic protein receptor type 2 (BMPR2) are the commonest genetic cause of PAH, whereas biallelic mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 gene (EIF2AK4) are described in pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. Here, we determine the frequency of these mutations and define the genotype-phenotype characteristics in a large cohort of patients diagnosed clinically with PAH. METHODS: Whole-genome sequencing was performed on DNA from patients with idiopathic and heritable PAH and with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis recruited to the National Institute of Health Research BioResource-Rare Diseases study. Heterozygous variants in BMPR2 and biallelic EIF2AK4 variants with a minor allele frequency of <1:10 000 in control data sets and predicted to be deleterious (by combined annotation-dependent depletion, PolyPhen-2, and sorting intolerant from tolerant predictions) were identified as potentially causal. Phenotype data from the time of diagnosis were also captured. RESULTS: Eight hundred sixty-four patients with idiopathic or heritable PAH and 16 with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis were recruited. Mutations in BMPR2 were identified in 130 patients (14.8%). Biallelic mutations in EIF2AK4 were identified in 5 patients with a clinical diagnosis of pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. Furthermore, 9 patients with a clinical diagnosis of PAH carried biallelic EIF2AK4 mutations. These patients had a reduced transfer coefficient for carbon monoxide (Kco; 33% [interquartile range, 30%-35%] predicted) and younger age at diagnosis (29 years; interquartile range, 23-38 years) and more interlobular septal thickening and mediastinal lymphadenopathy on computed tomography of the chest compared with patients with PAH without EIF2AK4 mutations. However, radiological assessment alone could not accurately identify biallelic EIF2AK4 mutation carriers. Patients with PAH with biallelic EIF2AK4 mutations had a shorter survival. CONCLUSIONS: Biallelic EIF2AK4 mutations are found in patients classified clinically as having idiopathic and heritable PAH. These patients cannot be identified reliably by computed tomography, but a low Kco and a young age at diagnosis suggests the underlying molecular diagnosis. Genetic testing can identify these misclassified patients, allowing appropriate management and early referral for lung transplantation

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) individuals. Whole-genome sequencing gives unprecedented power to detect three categories of pathogenic variants in particular: structural variants, variants in GC-rich regions, which have significantly improved coverage compared to whole-exome sequencing, and variants in non-coding regulatory regions. In addition to previously reported pathogenic regulatory variants, we have identified a previously unreported pathogenic intronic variant in $\textit{CHM}$ in two males with choroideremia. We have also identified 19 genes not previously known to be associated with inherited retinal disease, which harbor biallelic predicted protein-truncating variants in unsolved cases. Whole-genome sequencing is an increasingly important comprehensive method with which to investigate the genetic causes of inherited retinal disease.This work was supported by The National Institute for Health Research England (NIHR) for the NIHR BioResource – Rare Diseases project (grant number RG65966). The Moorfields Eye Hospital cohort of patients and clinical and imaging data were ascertained and collected with the support of grants from the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital, National Health Service Foundation Trust, and UCL Institute of Ophthalmology, Moorfields Eye Hospital Special Trustees, Moorfields Eye Charity, the Foundation Fighting Blindness (USA), and Retinitis Pigmentosa Fighting Blindness. M.M. is a recipient of an FFB Career Development Award. E.M. is supported by UCLH/UCL NIHR Biomedical Research Centre. F.L.R. and D.G. are supported by Cambridge NIHR Biomedical Research Centre

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for variants in cancer-predisposition genes (CPGs) is mostly targeted by tumor type. We ascertained pre-assessed MPT individuals (with at least two primary tumors by age 60 years or at least three by 70 years) from genetics centers and performed whole-genome sequencing (WGS) on 460 individuals from 440 families. Despite previous negative genetic assessment and molecular investigations, pathogenic variants in moderate- and high-risk CPGs were detected in 67/440 (15.2%) probands. WGS detected variants that would not be (or were not) detected by targeted resequencing strategies, including low-frequency structural variants (6/440 [1.4%] probands). In most individuals with a germline variant assessed as pathogenic or likely pathogenic (P/LP), at least one of their tumor types was characteristic of variants in the relevant CPG. However, in 29 probands (42.2% of those with a P/LP variant), the tumor phenotype appeared discordant. The frequency of individuals with truncating or splice-site CPG variants and at least one discordant tumor type was significantly higher than in a control population (χ2 = 43.642; p ≤ 0.0001). 2/67 (3%) probands with P/LP variants had evidence of multiple inherited neoplasia allele syndrome (MINAS) with deleterious variants in two CPGs. Together with variant detection rates from a previous series of similarly ascertained MPT-affected individuals, the present results suggest that first-line comprehensive CPG analysis in an MPT cohort referred to clinical genetics services would detect a deleterious variant in about a third of individuals.JW is supported by a Cancer Research UK Cambridge Cancer Centre Clinical Research Training Fellowship. Funding for the NIHR BioResource – Rare diseases project was provided by the National Institute for Health Research (NIHR, grant number RG65966). ERM acknowledges support from the European Research Council (Advanced Researcher Award), NIHR (Senior Investigator Award and Cambridge NIHR Biomedical Research Centre), Cancer Research UK Cambridge Cancer Centre and Medical Research Council Infrastructure Award. The University of Cambridge has received salary support in respect of EM from the NHS in the East of England through the Clinical Academic Reserve. The views expressed are those of the authors and not necessarily those of the NHS or Department of Health. DGE is an NIHR Senior Investigator and is supported by the all Manchester NIHR Biomedical Research Centre