120 research outputs found

    Gramáticas evolutivas para la predicción de hipoglucemias en diabetes

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    Trabajo de Fin de Grado en Ingeniería Informática, Facultad de Informática UCM, Departamento Ingeniería del Software e Inteligencia Artificial, Curso 2021/2022. https://github.com/ABSysGroup/jeco/tree/TFG_GE4HYPODiabetic patients have to manage their blood sugar correctly to prevent complications. One such complication is hypoglycemia or low blood sugar, which occurs when the blood glucose concentration goes below a certain threshold. A hypoglycemic episode needs to be rectified before it becomes harmful and can be a very distressing situation for the patient. The main goal of this study is to program Structured Grammatical Evolution and Dynamic Structured Grammatical Evolution algorithms and use them to generate models for the prediction of hypoglycemic episodes in patients with diabetes. The algorithms will be used to obtain a white-box model made up of if-then-else statements that given some input data, comprised of the blood glucose and exercise readings of the patients from the previous 2 hours, optimizes a logical relation between these variables. The resulting formula will be able to determine if the patient is going to have a hypoglycemic episode in a 30, 60, 90 and 120 minutes prediction horizon.Los pacientes con diabetes deben controlar correctamente su nivel de azúcar en sangre para evitar complicaciones. Una de estas complicaciones es la hipoglucemia o nivel bajo de azúcar en sangre, que ocurre cuando la concentración de glucosa en la sangre cae por debajo de cierto umbral. Un episodio de hipoglucemia debe corregirse antes de que se vuelva dañino y puede ser una situación muy angustiosa para el paciente. El objetivo principal de este estudio es programar los algoritmos de Gramáticas Evolutivas Estructuradas y Gramáticas Evolutivas Estructuradas Dinámicas, y utilizarlos para generar modelos de predicción de episodios hipoglucémicos en pacientes con diabetes. Los algoritmos se utilizarán para obtener un modelo de caja blanca formado por sentencias if-then-else que, dados unos datos de entrada, compuestos por el nivel de la glucosa en sangre y las lecturas de datos de ejercicio de los pacientes de las 2 horas anteriores, optimiza una relación lógica entre estas variables. La fórmula resultante se usa para determinar si el paciente va a tener un episodio de hipoglucemia en un plazo de 30, 60, 90 y 120 minutos.Depto. de Ingeniería de Software e Inteligencia Artificial (ISIA)Fac. de InformáticaTRUEunpu

    Level of compliance with vaccination schedules in children 0 to 9 years

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    La vacunación es un gran logro de la salud actual que cada año salva millones de vidas, estas refuerzan y ayudan al sistema inmune del cuerpo para evitar enfermedades o disminuir su mortalidad. La inmunización forma parte esencial de la atención primaria a la salud siendo un elemento primordial para la prevención y el control de las enfermedades infecciosas ayudando así a resguardar la seguridad sanitaria mundial y nacional. (OMS, 2023). Es un estudio cuantitativo, con diseño no experimental, descriptivo de corte transversal, con una muestra de 37 niños (as) que acuden con su tutor al CESSA Macuspana para vacunación. Los resultados muestran que 20 (54.05%) tienen buen nivel de cumplimiento, mientras que 17 (45.95%) no tienen un esquema de vacunación completo; es decir, se concluye que es necesario trabajar en las oportunidades perdidas de vacunación para aumentar los esquemas completos en niños de Macuspana.Vaccination is a great achievement of current health that every year saves millions of lives, these strengthen and help the body’s immune system to prevent diseases or reduce its mortality. Immunization is an essential part of primary health care as a primary element for the prevention and control of infectious diseases, thus helping to safeguard global and national health security. (WHO, 2023). It is a quantitative study, with an experimental design, descriptive cross-sectional, with a sample of 37 children (as) who come with their guardian to the CESSA Macuspana for vaccination. The results show that 20 (54.05%) have a good level of compliance, while 17 (45.95%) do not have a complete vaccination schedule; that is, it is concluded that it is necessary to work on missed vaccination opportunities to increase the complete schemes in children of Macuspana

    Complete Genome Sequences of Field Isolates of Mycobacterium bovis and Mycobacterium caprae

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    Here we report the complete genome sequences of field isolates of Mycobacterium bovis and the related mycobacterial species, Mycobacterium caprae. The genomes of three M. bovis (MB1, MB3, MB4) and one M. caprae (MB2) field isolates with different virulence, prevalence, and host distribution phenotypes were sequenced

    A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis

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    Establishing the pathogenic nature of variants in ATM, a gene associated with breast cancer and other hereditary cancers, is crucial for providing patients with adequate care. Unfortunately, achieving good variant classification is still difficult. To address this challenge, we extended the range of in silico tools with a series of graphical tools devised for the analysis of computational evidence by health care professionals. We propose a family of fast and easy-to-use graphical representations in which the impact of a variant is considered relative to other pathogenic and benign variants. To illustrate their value, the representations are applied to three problems in variant interpretation. The assessment of computational pathogenicity predictions showed that the graphics provide an intuitive view of pre-diction reliability, complementing and extending conventional numerical reliability indexes. When applied to variant of unknown significance populations, the representations shed light on the nature of these variants and can be used to prioritize variants of unknown significance for further studies. In a third application, the graphics were used to compare the two versions of the ATM-adapted American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines, obtaining valuable information on their relative virtues and weaknesses. Finally, a server [ATMision (ATM missense in silico interpretation online)] was generated for users to apply these representations in their variant interpretation problems, to check the ATM-adapted guidelines' criteria for computational evidence on their variant(s) and access different sources of information. (J Mol Diagn 2024, 26: 17-28; https://doi.org/10.1016/j.jmoldx.2023.09.009

    A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients

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    Background Gene panel testing by massive parallel sequencing has increased the diagnostic yield but also the number of variants of uncertain significance. Clinical interpretation of genomic data requires expertise for each gene and disease. Heterozygous ATM pathogenic variants increase the risk of cancer, particularly breast cancer. For this reason, ATM is included in most hereditary cancer panels. It is a large gene, showing a high number of variants, most of them of uncertain significance. Hence, we initiated a collaborative effort to improve and standardize variant classification for the ATM gene. Methods Six independent laboratories collected information from 766 ATM variant carriers harboring 283 different variants. Data were submitted in a consensus template form, variant nomenclature and clinical information were curated, and monthly team conferences were established to review and adapt American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria to ATM, which were used to classify 50 representative variants. Results Amid 283 different variants, 99 appeared more than once, 35 had differences in classification among laboratories. Refinement of ACMG/AMP criteria to ATM involved specification for twenty-one criteria and adjustment of strength for fourteen others. Afterwards, 50 variants carried by 254 index cases were classified with the established framework resulting in a consensus classification for all of them and a reduction in the number of variants of uncertain significance from 58% to 42%. Conclusions Our results highlight the relevance of data sharing and data curation by multidisciplinary experts to achieve improved variant classification that will eventually improve clinical management.FEDER funds-a way to build Europe PI19/00553 PI16/00563 PI16/01898 SAF2015-68016-RGeneralitat de Catalunya 2017SGR1282 2017SGR496CERCA Program: Government of CataloniaXunta de GaliciaInstituto de Salud Carlos III. AES PI19/00340Spanish Government SAF2016-80255-REuropean Commission EFA086/15Instituto de Salud Carlos III European Commissio

    Morfometría del cerdo de traspatio en áreas rurales de México

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    Data from 241 interviews collected in 2013 was analyzed to characterize populations of pigs (Mexican Hairless Pig  (MH), Cuino Pig (CU) and Crossbred Pig (UD)). Variables were body weight (BW), head length (HL), body length (BL), thoracic perimeter (CG), height at withers (HW), croup width (RW), number of nipples (TC), dense or sparse hair (HD), presence or absence of tusks (TU), short or long snout (ST), upright or floppy ears (ER), calm or restless temperament (TM), proportionality index (PI), body index (BI) and relative weight index (RWI). Analyses were carried out with GLM and GENMOD of SAS. Models included state and population. Population was significant (P<0.05) for BW, BL, CG, HW, RW, TU, TM, PI, BI and RWI. Coefficients of variation (VC) showed the minor and major values for BW (18.8 %) and CG (27.8 %). VC were 13.0, 14.6 and 45.8 % for PI, BI and RWI. Least squares means for MH, CU and UD were: 48.06±6.17a, 35.93±3.04b and 61.11±7.42a kg (BW); 77.81±3.65ab, 69.56±2.02ª and 88.52±4.93b  cm (BL); 80.55±3.98ab, 71.72±2.20a and 93.23±5.37b cm (CG); 56.88±2.45ab, 51.26±1.36a and 60.32±3.31b cm (HW); 57±4a, 71±19b and 62±34a % (HD); 68±31ab, 70±14a and 61±27b% (TU); 65±30a, 56±12b and 62±3a% (TM). The MH and UD populations were similar in morphometry and different from the CU population. The CU population showed lower weight, smaller size and calmer temperament. The characterization of these populations is important for designing strategies for their conservation and efficient use.Data from 241 interviews collected in 2013 was analyzed to characterize populations of pigs (Mexican Hairless Pig  (MH), Cuino Pig (CU) and Crossbred Pig (UD)). Variables were body weight (BW), head length (HL), body length (BL), thoracic perimeter (CG), height at withers (HW), croup width (RW), number of nipples (TC), dense or sparse hair (HD), presence or absence of tusks (TU), short or long snout (ST), upright or floppy ears (ER), calm or restless temperament (TM), proportionality index (PI), body index (BI) and relative weight index (RWI). Analyses were carried out with GLM and GENMOD of SAS. Models included state and population. Population was significant (P<0.05) for BW, BL, CG, HW, RW, TU, TM, PI, BI and RWI. Coefficients of variation (VC) showed the minor and major values for BW (18.8 %) and CG (27.8 %). VC were 13.0, 14.6 and 45.8 % for PI, BI and RWI. Least squares means for MH, CU and UD were: 48.06±6.17a, 35.93±3.04b and 61.11±7.42a kg (BW); 77.81±3.65ab, 69.56±2.02ª and 88.52±4.93b  cm (BL); 80.55±3.98ab, 71.72±2.20a and 93.23±5.37b cm (CG); 56.88±2.45ab, 51.26±1.36a and 60.32±3.31b cm (HW); 57±4a, 71±19b and 62±34a % (HD); 68±31ab, 70±14a and 61±27b% (TU); 65±30a, 56±12b and 62±3a% (TM). The MH and UD populations were similar in morphometry and different from the CU population. The CU population showed lower weight, smaller size and calmer temperament. The characterization of these populations is important for designing strategies for their conservation and efficient use.  Para caracterizar a las poblaciones del cerdo Pelón Mexicano (PPM), cerdo Cuino (PCU) y cerdos                   cruzados (PCI) se analizó información de 241 entrevistas realizadas durante 2013. Las variables analizadas fueron: peso corporal (Peco), longitud de cabeza (Loca), longitud del cuerpo (Locu), circunferencia del pecho (Circu), altura a la cruz         (Acruz), ancho de pelvis (Anpe), número de pezones (Nupe), pelo denso o escaso (Cape), presencia o ausencia de colmillos (Colm), hocico corto o largo (Hoc), orejas erguidas o no erguidas (Posio), temperamento tranquilo o inquieto (Tem),  índice de proporcionalidad (IP), índice corporal (IC) e índice de peso relativo (IPR). Los datos se analizaron con GLM y GENMOD del SAS. Los modelos estadísticos incluyeron Estado y Población. Población influyó (P<0.05) Peco, Locu, Circu, Acruz, Cape, Colm, Tem IP, IC e IPR. Los coeficientes de variación (CV) mostraron a Peco y Anpe como las características con menor y mayor variación (18.8 y 27.8 %). Para IP, IC e IPR los CV fueron 13.0, 14.6 y 45.8 %.Las medias de cuadrados mínimos para PPM, PCU y PCI fueron 48.06±6.17a, 35.93±3.04b y 61.11±7.42a kg (Peco); 77.81±3.65ab, 69.56±2.02a y 88.52±4.93b cm (Locu); 80.55±3.98ab, 71.72±2.20a y 93.23±5.37b cm (Circu); 56.88±2.45ab, 51.26±1.36a y 60.32±3.31b cm (Acruz); 57±4a, 71±19b y 62±34a% (Cape); 68±31ab, 70±14a y 61±27b% (Colm); 65±30a, 56±12b y 62±3a% (Tem). PPM y PCI fueron similares en morfometría pero diferentes de PCU. La población PCU mostró menor peso, menor talla y temperamento más inquieto. Caracterizar a estas poblaciones es importante para diseñar estrategias para su conservación y uso eficiente

    Análisis de variables morfológicas de pavos de traspatio mexicanos (Meleagris gallopavo gallopavo)

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    El objetivo fue evaluar algunas características morfológicas de pavos de traspatio (n=248) provenientes de 126 unidades rurales de producción localizadas en 75 municipios de 24 estados de la República Mexicana. El modelo estadístico incluyó sexo, estado y municipio anidado en estado. Las tres variables explicativas afectaron a todas las variables de respuesta (P0.05). Los machos tuvieron mayor (P0.05). El peso corporal aumentó 143 g (P<0.01) en machos y 113 g en hembras (P<0.01) por cada centímetro que aumentó la circunferencia de la pechuga. Los colores predominantes en el plumaje, la piel y el tarso fueron negro, blanco y café, respectivamente. El pavo de traspatio mexicano presentó dimorfismo sexual significativo y alta correlación fenotípica entre circunferencia de la pechuga y peso corporal

    Validation of a histologic scoring index for C3 glomerulopathy

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    12 p.-4 fig.-4 tab.Rationale & objective: A previous study that evaluated associations of kidney biopsy findings with disease progression in patients with C3 glomerulopathy (C3G) proposed a prognostic histologic index (C3G-HI) that has not yet been validated. Our objective was to validate the performance of the C3G-HI in a new patient population.Study design: Multicenter, retrospective cohort study.Setting & participants: 111 patients fulfilling diagnostic criteria of C3G between January 1995 and December 2019, from 33 nephrology departments belonging to the Spanish Group for the Study of Glomerular Diseases (GLOSEN).Predictors: Demographic, clinical parameters, C3G-HI total activity score, and the C3G-HI total chronicity score.Outcome: Time to kidney failure.Analytical approach: Intraclass correlation coefficients and κ statistic were used to summarize inter-rater reproducibility for assessment of histopathology in kidney biopsies. The nonlinear relationships of risk of kidney failure with the total activity score and total chronicity score were modeled using Cox proportional hazards analysis that incorporated cubic splines.Results: The study group included 93 patients with C3 glomerulonephritis and 18 with dense-deposit disease. Participants had an overall meanage of 35±22 (SD) years. Forty-eight patients (43%) developed kidney failure after a mean follow-up of 65±27 months. The overall inter-rater reproducibility was very good for the total activity score (intraclass correlation coefficient [ICC]=0.63) and excellent for total chronicity score (ICC=0.89). Baseline estimated glomerular filtration rate (eGFR), 24-hour proteinuria, and treatment with immunosuppression were the main determinants of kidney failure in a model with only clinical variables. Only tubular atrophy and interstitial fibrosis were identified as predictors in a model with histological variables. When the total activity score and total chronicity score were added to the model, only the latter was identified as an independent predictor of kidney failure.Limitations: Only a subset of the kidney biopsies was centrally reviewed. Residual confounding.Conclusions: We validated the performance of C3G-HI as a predictor of kidney failure in patients with C3G. The total chronicity score was the principal histologic correlate of kidney failure.Work in this study was supported by the Instituto de Salud Carlos III /Fondo Europeo de Desarrollo Regional (ISCIII/FEDER) grant PI16/01685 and Red de Investigación Renal (RedInRen) (RD12/0021/0029) (to MP), the Autonomous Region of Madrid (S2017/BMD-3673) (to MP); EGdeJ is supported by the Spanish “Ministerio de Ciencia, Innovación y Universidades" (RYC-2013-13395 and RTI2018-095955-B-100).Peer reviewe

    An Insertion Within SIRPß1 Shows a Dual Effect Over Alzheimer's Disease Cognitive Decline Altering the Microglial Response

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