Diseño de una aplicación móvil nativa para la difusión turística del Cementerio Inglés de Málaga

Propuesta de diseño de una aplicación móvil para la difusión turística del Cementerio Inglés de Málaga, así como para el conocimiento de su espacio como recurso histórico y patrimonial, destinado tanto a residentes como a visitantes de la ciudad. A través de un distendido recorrido, la aplicación permitirá al usuario conocer de primera mano aspectos del camposanto relacionados con su historia y con el legado que constituye, dadas las circunstancies actuales de aparente aislamiento en cuanto a su divulgación. El fin no es otro que llevar la memoria de aquéllos que en su día no podían ser enterrados dignamente debido a su fe ajena a la confesión católica, pues, hasta el primer tercio del siglo XIX, los fallecidos en estas circunstancias eran despojados de su derecho a la sepultura en los camposantos existentes

Water versus Wireless Coverage in Rural Mali: Links and Paradoxes

Water and wireless coverage were evaluated in a rural commune of southern Mali. All improved water sources in the area were checked for operability, accessibility, and water quality, while wireless coverage was tested by means of smartphones, phone calls, and instant messaging applications. Theoretical water coverage exceeded 82% of the total village surface area, thus beating the national and sub-Saharan African averages, but dropped to just 39% when considering only serviceable and contamination-free sources. In contrast, wireless coverage exceeded 90%. These outcomes highlight a triple paradox: (1) water from theoretically safe (i.e., improved) water sources is often unsafe to drink; (2) wireless access is better than water access even though water is essential for human survival and telecommunications are not; and (3) excellent Internet coverage does not help a large number of people, who lack the skills, devices, or need to access it. While telecommunications seem to be making inroads towards universal access faster than the water sector, a survey of water committees uncovered a hidden nexus between both resources, revealing that increased wireless access is actually contributing to underpin water coverage in a variety of ways

Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic

We thank Alejandro Fernández Sevilla for his valuable help in the development of Figure 2 of this review. The authors were funded by the Spanish Ministry of Economy and Competitiveness through the Spanish National Plan for Scientific and Technical Research and Innovation (ref. SAF2016-78722-R) and the “Ramón y Cajal” program (ref. RYC-2014-16458).Nonobstructive azoospermia (NOA) represents the most severe expression of male infertility, involving around 1% of the male population and 10% of infertile men. This condition is characterised by the inability of the testis to produce sperm cells, and it is considered to have an important genetic component. During the last two decades, di erent genetic anomalies, including microdeletions of the Y chromosome, karyotype defects, and missense mutations in genes involved in the reproductive function, have been described as the primary cause of NOA in many infertile men. However, these alterations only explain around 25% of azoospermic cases, with the remaining patients showing an idiopathic origin. Recent studies clearly suggest that the so-called idiopathic NOA has a complex aetiology with a polygenic inheritance, which may alter the spermatogenic process. Although we are far from a complete understanding of the molecular mechanisms underlying NOA, the use of the new technologies for genetic analysis has enabled a considerable increase in knowledge during the last years. In this review, we will provide a comprehensive and updated overview of the genetic basis of NOA, with a special focus on the possible application of the recent insights in clinical practice.Funded by the Spanish Ministry of Economy and Competitiveness through the Spanish National Plan for Scientific and Technical Research and Innovation (ref. SAF2016-78722-R) and the “Ramón y Cajal” program (ref. RYC-2014-16458)

Capacidad predictiva de la Batería ENFEN en el diagnóstico del Trastorno por Déficit de Atención e Hiperactividad

Attention deficit hyperactivity disorder (ADHD) is considered to be one of the most common disorders during children and adolescents’ neurodevelopment. Given how much the individuals’ executive functions are affected, the objective of the present study was to verify the validity of the Neuropsychological Assessment of Executive Functions battery for Children (ENFEN for its acronym in Spanish) as a predictor in the diagnosis of ADHD. The sample consisted of 175 participants from southeast Spain of both sexes aged between 6 and 12 (clinical M=8.39, SD=1.87, and control M=8.78, SD=1.91). The clinical group was composed of 89 (79.50%) males and 23 (20.50%) females, and the control group consisted of 37 (58.70%) males and 26 (41.30%) females. ENFEN is an individual applications battery that allows the executive functions to be globally evaluated using a wide range of elements. We followed a non-experimental research design for this comparative descriptive study. The results indicate that the phonological fluency, colour naming path, and interference scales are closely associated with the diagnosis of ADHD as they provide data on elements including inhibition, mental flexibility, sustained and selective attention, verbal fluency, and working memory. In general, this study supports the usefulness and validity of the ENFEN battery as a tool to clinically diagnose ADHD.El trastorno por déficit de atención en hiperactividad (TDAH) es uno de los trastornos más frecuentes en el neurodesarrollo de niños y adolescentes. Las personas que lo padecen se caracterizan por presentar dificultades en los procesos de atención sostenida, ser muy activos y tener un deficiente control de sus impulsos. Pese a su elevada prevalencia y la existencia de diversas pruebas utilizadas para su diagnóstico, se conocen pocos datos sobre la utilidad y validez diagnóstica de estas herramientas. Dada la gran afectación que estos sujetos presentan en las funciones ejecutivas, el objetivo de este estudio es comprobar la utilidad y validez de la batería de Evaluación Neuropsicológica de las Funciones Ejecutivas en Niños (ENFEN), como predictora herramienta de apoyo al diagnóstico de TDAH. La muestra de estudio estuvo compuesta por 175 participantes de ambos sexos, con edades comprendidas entre los 6 y 12 años (grupo clínico M=8.39, SD=1.87 y grupo control M=8.78, SD=1.91). El grupo clínico estaba compuesto por 89 (79.50%) hombres y 23 (20,50%) mujeres, y el grupo de control por 37 (58,70%) hombres y 26 (41,30%) mujeres. ENFEN es una batería de aplicación individual, compuesta por varias subpruebas que requieren el empleo de funciones ejecutivas para resolver los elementos que las componen. Se siguió un diseño no-experimental para llevar a cabo un estudio descriptivo comparativo. Los resultados señalaron que las escalas Fluidez Fonológica, Sendero Color e Interferencia que requieren en mayor medida inhibición, flexibilidad mental, atención sostenida y selectiva, fluidez verbal y memoria de trabajo, entre otras aptitudes cognitivas, son las que mejor se asocian al diagnóstico de TDAH. En general, este estudio apoya la utilidad y validez de la prueba ENFEN como herramienta para el diagnóstico clínico del TDAH

Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome

We aimed to analyze the role of the common genetic variants located in the PIN1 locus, a relevant prolyl isomerase required to control the proliferation of spermatogonial stem cells and the integrity of the blood–testis barrier, in the genetic risk of developing male infertility due to a severe spermatogenic failure (SPGF). Genotyping was performed using TaqMan genotyping assays for three PIN1 taggers (rs2287839, rs2233678 and rs62105751). The study cohort included 715 males diagnosed with SPGF and classified as suffering from non-obstructive azoospermia (NOA, n = 505) or severe oligospermia (SO, n = 210), and 1058 controls from the Iberian Peninsula. The allelic frequency differences between cases and controls were analyzed by the means of logistic regression models. A subtype specific genetic association with the subset of NOA patients classified as suffering from the Sertoli cell-only (SCO) syndrome was observed with the minor alleles showing strong risk effects for this subset (ORaddrs2287839 = 1.85 (1.17–2.93), ORaddrs2233678 = 1.62 (1.11–2.36), ORaddrs62105751 = 1.43 (1.06–1.93)). The causal variants were predicted to affect the binding of key transcription factors and to produce an altered PIN1 gene expression and isoform balance. In conclusion, common non-coding single-nucleotide polymorphisms located in PIN1 increase the genetic risk to develop SCO.Plan Andaluz de Investigacion, Desarrollo e Innovacion (PAIDI 2020) PY20_00212 P20_00583Spanish Ministry of Economy and Competitiveness through the Spanish National Plan for Scientific and Technical Research and Innovation SAF2016-78722-R PID2020-120157RB-I00Proyectos I + D + i del Programa Operativo FEDER 2020 B-CTS-584-UGR20 B-CTS-260-UGR20Spanish Government RYC-2014-16458Spanish Ministry of Economy and Competitiveness through the "Juan de la Cierva Incorporacion" program (MCIN/AEI) IJC2018038026-IEuropean CommissionMCIN/AEIFSE "El FSE invierte en tu futuro" FPU20/02926 BES-2017-081222Portuguese Foundation for Science and Technology (FCT) - European Social Funds (COMPETE-FEDER) Portuguese Foundation for Science and Technology IF/01262/2014FCT from the Portuguese State Budget of the Ministry for Science, Technology and High Education SFRH/BPD/120777/2016European Social Fund through the Programa Operacional do Capital HumanoPortuguese Foundation for Science and Technology European Commission UID/BIM/00009/2013 UIDB/UIDP/00009/2020Instituto de Salud Carlos III (FEDER funds/European Regional Development Fund (ERDF)-a way to build Europe) DTS18/00101Generalitat de Catalunya 2017SGR191SNS-Dpt. Salut Generalitat de Catalunya CES09/020 MCIN/AEI BES-2017-081222 PEstC/SAU/LA0003/2013 POCI-01-0145-FEDER-00727

Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility

Free PMC article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9546047/Background: Previous studies in animal models evidenced that genetic mutations of KATNAL1, resulting in dysfunction of its encoded protein, lead to male infertility through disruption of microtubule remodelling and premature germ cell exfoliation. Subsequent studies in humans also suggested a possible role of KATNAL1 single nucleotide polymorphisms in the development of male infertility as a consequence of severe spermatogenic failure. Objectives: The main objective of the present study is to evaluate the effect of the common genetic variation of KATNAL1 in a large and phenotypically well-characterised cohort of infertile men because of severe spermatogenic failure. Materials and methods: A total of 715 infertile men because of severe spermato genic failure, including 210 severe oligospermia and 505 non-obstructive azoospermia patients, as well as 1058 unaffected controls were genotyped for three KATNAL1 single-nucleotide polymorphism taggers (rs2077011, rs7338931 and rs2149971). Case–control association analyses by logistic regression assuming different models and in silico functional characterisation of risk variants were conducted. Results: Genetic associations were observed between the three analysed taggers and different severe spermatogenic failure groups. However, in all cases, the haplotype model (rs2077011*C | rs7338931*T | rs2149971*A) better explained the observed associations than the three risk alleles independently. This haplotype was associated with non-obstructive azoospermia (adjusted p = 4.96E-02, odds ratio = 2.97), Sertoli cell only syndrome (adjusted p = 2.83E-02, odds ratio = 5.16) and testicular sperm extraction unsuccessful outcomes (adjusted p = 8.99E-04, odds ratio = 6.13). The in silico analyses indicated that the effect on severe spermatogenic failure predisposition could be because of an alteration of the KATNAL1 splicing pattern. Conclusions: Specific allelic combinations of KATNAL1 genetic polymorphisms may confer a risk of developing severe male infertility phenotypes by favouring the overrepresentation of a short non-functional transcript isoform in the testis.This work was supported by the Spanish Ministry of Economy and Competitiveness through the Spanish National Plan for Scientific and Technical Research and Innovation (refs. SAF2016-78722-R and PID2020-120157RB-I00), the ‘Instituto de Salud Carlos III’ (Fondo de Investigaciones Sanitarias)/Fondo Europeo de Desarrollo Regional ‘Una manera de hacer Europa’ (FIS/FEDER) (ref. DTS18/00101 to Sara Larriba), the Generalitat de Catalunya (ref. 2017SGR191), the ‘Ramón y Cajal’ program (ref. RYC-2014-16458) and the ‘Juan de la Cierva Incorporación’ program (ref. IJC2018-038026-I), as well as the Andalusian Government through the R&D&i Projects Grants for Universities and Public Research Entities (ref. PY20_00212), which include FEDER funds. Andrea Guzmán-Jiménez was a recipient of a grant from the Spanish Ministry of Education and Professional Training (‘Becas de Colaboración en Departamentos Universitarios para el curso académico 2020/2021’). Patricia I. Marques is supported by the FCT post-doctoral fellowship (SFRH/BPD/120777/2016), financed from the Portuguese State Budget of the Ministry for Science, Tech nology and High Education and from the European Social Fund, available through the ‘Programa Operacional do Capital Humano’. João Gonçalves was partially funded by FCT/MCTES through national funds attributed to the Centre for Toxicogenomics and Human Health— ToxOmics (UID/BIM/00009/2016 and UIDB/00009/2020). Sara Larriba is sponsored by the Researchers Consolidation Program (ISCIII SNS/Dpt. Salut Generalitat de Catalunya) (CES09/020).info:eu-repo/semantics/publishedVersio

Common genetic variation in KATNAL1 non‐coding regions is involved in the susceptibility to severe phenotypes of male infertility

© 2022 The Authors. Andrology published by Wiley Periodicals LLC on behalf of American Society of Andrology and European Academy of Andrology. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.Background: Previous studies in animal models evidenced that genetic mutations of KATNAL1, resulting in dysfunction of its encoded protein, lead to male infertility through disruption of microtubule remodelling and premature germ cell exfoliation. Subsequent studies in humans also suggested a possible role of KATNAL1 single-nucleotide polymorphisms in the development of male infertility as a consequence of severe spermatogenic failure. Objectives: The main objective of the present study is to evaluate the effect of the common genetic variation of KATNAL1 in a large and phenotypically well-characterised cohort of infertile men because of severe spermatogenic failure. Materials and methods: A total of 715 infertile men because of severe spermatogenic failure, including 210 severe oligospermia and 505 non-obstructive azoospermia patients, as well as 1058 unaffected controls were genotyped for three KATNAL1 single-nucleotide polymorphism taggers (rs2077011, rs7338931 and rs2149971). Case-control association analyses by logistic regression assuming different models and in silico functional characterisation of risk variants were conducted. Results: Genetic associations were observed between the three analysed taggers and different severe spermatogenic failure groups. However, in all cases, the haplotype model (rs2077011*C | rs7338931*T | rs2149971*A) better explained the observed associations than the three risk alleles independently. This haplotype was associated with non-obstructive azoospermia (adjusted p = 4.96E-02, odds ratio = 2.97), Sertoli-cell only syndrome (adjusted p = 2.83E-02, odds ratio = 5.16) and testicular sperm extraction unsuccessful outcomes (adjusted p = 8.99E-04, odds ratio = 6.13). The in silico analyses indicated that the effect on severe spermatogenic failure predisposition could be because of an alteration of the KATNAL1 splicing pattern. Conclusions: Specific allelic combinations of KATNAL1 genetic polymorphisms may confer a risk of developing severe male infertility phenotypes by favouring the overrepresentation of a short non-functional transcript isoform in the testis.This work was supported by the Spanish Ministry of Economy and Competitiveness through the Spanish National Plan for Scientific and Technical Research and Innovation (refs. SAF2016-78722-R and PID2020-120157RB-I00), the ‘Instituto de Salud Carlos III’ (Fondo de Investigaciones Sanitarias)/Fondo Europeo de Desarrollo Regional ‘Una manera de hacer Europa’ (FIS/FEDER) (ref. DTS18/00101 to Sara Larriba), the Generalitat de Catalunya (ref. 2017SGR191), the ‘Ramón y Cajal’ program (ref. RYC-2014-16458) and the ‘Juan de la Cierva Incorporación’ program (ref. IJC2018-038026-I), as well as the Andalusian Government through the R&D&i Projects Grants for Universities and Public Research Entities (ref. PY20_00212), which include FEDER funds. Andrea Guzmán-Jiménez was a recipient of a grant from the Spanish Ministry of Education and Professional Training (‘Becas de Colaboración en Departamentos Universitarios para el curso académico 2020/2021’). Patricia I. Marques is supported by the FCT post-doctoral fellowship (SFRH/BPD/120777/2016), financed from the Portuguese State Budget of the Ministry for Science, Technology and High Education and from the European Social Fund, available through the ‘Programa Operacional do Capital Humano’. João Gonçalves was partially funded by FCT/MCTES through national funds attributed to the Centre for Toxicogenomics and Human Health—ToxOmics (UID/BIM/00009/2016 and UIDB/00009/2020). Sara Larriba is sponsored by the Researchers Consolidation Program (ISCIII SNS/Dpt. Salut Generalitat de Catalunya) (CES09/020).info:eu-repo/semantics/publishedVersio

Predictive capacity of the Spanish Neuropsychological Assessment of Executive Functions Battery when diagnosing child ADHD

Abstract Attention deficit hyperactivity disorder (ADHD) is considered to be one of the most common disorders during children and adolescents' neurodevelopment. Given how much the individuals executive functions are affected, the objective of the present study was to verify the validity of the Neuropsychological Assessment of Executive Functions battery for Children (ENFEN for its acronym in Spanish) as a predictor in the diagnosis of ADHD. The sample consisted of 175 participants from southeast Spain of both sexes aged between 6 and 12 (clinical M=8.39, SD=1.87, and control M=8.78, SD=1.91). The clinical group was composed of 89 (79.50%) males and 23 (20.50%) females, and the control group consisted of 37 (58.70%) males and 26 (41.30%) females. ENFEN is an individual applications battery that allows the executive functions to be globally evaluated using a wide range of elements. We followed a non-experimental research design for this comparative descriptive study. The results indicate that the phonological fluency, colour naming path, and interference scales are closely associated with the diagnosis of ADHD as they provide data on elements including inhibition, mental flexibility, sustained and selective attention, verbal fluency, and working memory. In general, this study supports the usefulness and validity of the ENFEN battery as a tool to clinically diagnose ADHD.Resumen El trastorno por déficit de atención en hiperactividad (TDAH) es uno de los trastornos más frecuentes en el neurodesarrollo de niños y adolescentes. Las personas que lo padecen se caracterizan por presentar dificultades en los procesos de atención sostenida, ser muy activos y tener un deficiente control de sus impulsos. Pese a su elevada prevalencia y la existencia de diversas pruebas utilizadas para su diagnóstico, se conocen pocos datos sobre la utilidad y validez diagnóstica de estas herramientas. Dada la gran afectación que estos sujetos presentan en las funciones ejecutivas, el objetivo de este estudio es comprobar la utilidad y validez de la batería de Evaluación Neuropsicológica de las Funciones Ejecutivas en Niños (ENFEN), como predictora herramienta de apoyo al diagnóstico de TDAH. La muestra de estudio estuvo compuesta por 175 participantes de ambos sexos, con edades comprendidas entre los 6 y 12 años (grupo clínico M=8.39, SD=1.87 y grupo control M=8.78, SD=1.91). El grupo clínico estaba compuesto por 89 (79.50%) hombres y 23 (20,50%) mujeres, y el grupo de control por 37 (58,70%) hombres y 26 (41,30%) mujeres. ENFEN es una batería de aplicación individual, compuesta por varias subpruebas que requieren el empleo de funciones ejecutivas para resolver los elementos que las componen. Se siguió un diseño no-experimental para llevar a cabo un estudio descriptivo comparativo. Los resultados señalaron que las escalas Fluidez Fonológica, Sendero Color e Interferencia que requieren en mayor medida inhibición, flexibilidad mental, atención sostenida y selectiva, fluidez verbal y memoria de trabajo, entre otras aptitudes cognitivas, son las que mejor se asocian al diagnóstico de TDAH. En general, este estudio apoya la utilidad y validez de la prueba ENFEN como herramienta para el diagnóstico clínico del TDAH

Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia

Background: Severe spermatogenic failure (SPGF) represents one of the most relevant causes of male infertility. This pathological condition can lead to extreme abnormalities in the seminal sperm count, such as severe oligozoospermia (SO) or non-obstructive azoospermia (NOA). Most cases of SPGF have an unknown aetiology, and it is known that this idiopathic form of male infertility represents a complex condition. In this study, we aimed to evaluate whether common genetic variation in TEX15, which encodes a key player in spermatogenesis, is involved in the susceptibility to idiopathic SPGF. Materials and Methods: We designed a genetic association study comprising a total of 727 SPGF cases (including 527 NOA and 200 SO) and 1,058 unaffected men from the Iberian Peninsula. Following a tagging strategy, three tag singlenucleotide polymorphisms (SNPs) of TEX15 (rs1362912, rs323342, and rs323346) were selected for genotyping using TaqMan probes. Case-control association tests were then performed by logistic regression models. In silico analyses were also carried out to shed light into the putative functional implications of the studied variants. Results: A significant increase in TEX15-rs1362912 minor allele frequency (MAF) was observed in the group of SO patients (MAF = 0.0842) compared to either the control cohort (MAF = 0.0468, OR = 1.90, p = 7.47E-03) or the NOA group (MAF = 0.0472, OR = 1.83, p = 1.23E-02). The genotype distribution of the SO population was also different from those of both control (p = 1.14E-02) and NOA groups (p = 4.33–02). The analysis of functional annotations of the human genome suggested that the effect of the SO-associated TEX15 variants is likely exerted by alteration of the binding affinity of crucial transcription factors for spermatogenesis. Conclusion: Our results suggest that common variation in TEX15 is involved in the genetic predisposition to SO, thus supporting the notion of idiopathic SPGF as a complex trait.Spanish Ministry of Science and Innovation through the Spanish National Plan for Scientific and Technical Research and InnovationAndalusian Government PID 2020-120157RB-I 00Ministry of Science and Innovation, Spain (MICINN) Spanish Government PY20_00212 B-CTS-584-UGR20 MCIN/AEI IJC 2018-03802 6-IEuropean Commission FPU20/02926Portuguese Foundation for Science and TechnologyEuropean Social Fund (ESF)National FundsPortuguese Foundation for Science and Technology European Commission PEstC/SAU/LA0003/2013 POCI-01-0145-FEDER-007274 Portuguese State Budget of the Ministry for Science, Technology and High Education SFRH/BPD/120777/201 6 UID/BIM/00 009/2016 UIDB/00009/20 20European Social Fund (ESF)ToxOmics-Centre for Toxicogenomics and Human Health, Genetics, Oncology and Human Toxicology, Nova Medical School, LisbonInstituto de Salud Carlos III European Commission FEDER funds/European Regional Development Fund (ERDF) DTS18/001 01SNS-DptGeneralitat de CatalunyaSNS-Dpt. Salut Generalitat de Catalunya 2017SGR191 Exp. CES09/02