Diaglexia: manual de usuario de una aplicación informática para el diagnóstico de la dislexia (II)

[Resumen] En esta segunda parte, queremos presentar el manual de usuario para la aplicación de nuestro programa Diaglexia, ya que en la primera parte sólo presentamos algunas pantallas que reflejan la evaluación que se pretende llevar a cabo con el sujeto que presente problemas lectoescritores. Realmente queremos facilitar la tarea tanto del profesional, en el que puede crear sus propias pruebas diagnóstica adaptándose a la problemática individual del discent

Diaglexia: una aplicación informática para el diagnóstico de la dislexia

[Resumen] En esta comunicación pretendemos dar una opción diferente al profesor de Audición y Lenguaje, al Logopeda o al Psicopedagogo de un departamento de orientación, a la hora de hacer un diagnóstico a un discente con trastornos lectoescritores, en concreto la dislexia. Se trata de una aplicación informática llamada Diaglexia,en la que se ponen a disposición del niño las herramientas de la nueva era, la tecnología informática. Se pretende explorar los fallos del sujeto a la vez que se divierte, realmente este programa pide una segunda parte, en el que se propongan diversas actividades para la intervención o reeducación de la dislexia. Por otra parte, hay una segunda comunicación que explica el manual de usuari

Gene therapy for neuronopathic mucopolysaccharidoses : state of the art

The need for long-lasting and transformative therapies for mucopolysaccharidoses (MPS) cannot be understated. Currently, many forms of MPS lack a specific treatment and in other cases available therapies, such as enzyme replacement therapy (ERT), do not reach important areas such as the central nervous system (CNS). The advent of newborn screening procedures represents a major step forward in early identification and treatment of individuals with MPS. However, the treatment of brain disease in neuronopathic MPS has been a major challenge to date, mainly because the blood brain barrier (BBB) prevents penetration of the brain by large molecules, including enzymes. Over the last years several novel experimental therapies for neuronopathic MPS have been investigated. Gene therapy and gene editing constitute potentially curative treatments. However, despite recent progress in the field, several considerations should be taken into account. This review focuses on the state of the art of in vivo and ex vivo gene therapy-based approaches targeting the CNS in neuronopathic MPS, discusses clinical trials conducted to date, and provides a vision for the future implications of these therapies for the medical community. Recent advances in the field, as well as limitations relating to efficacy, potential toxicity, and immunogenicity, are also discussed

Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art

Virus adeno associat; Lentivirus; Vectors viralsVirus adenoasociado; Lentivirus; Vectores viralesAdeno-associated virus; Lentivirus; Viral vectorsThe need for long-lasting and transformative therapies for mucopolysaccharidoses (MPS) cannot be understated. Currently, many forms of MPS lack a specific treatment and in other cases available therapies, such as enzyme replacement therapy (ERT), do not reach important areas such as the central nervous system (CNS). The advent of newborn screening procedures represents a major step forward in early identification and treatment of individuals with MPS. However, the treatment of brain disease in neuronopathic MPS has been a major challenge to date, mainly because the blood brain barrier (BBB) prevents penetration of the brain by large molecules, including enzymes. Over the last years several novel experimental therapies for neuronopathic MPS have been investigated. Gene therapy and gene editing constitute potentially curative treatments. However, despite recent progress in the field, several considerations should be taken into account. This review focuses on the state of the art of in vivo and ex vivo gene therapy-based approaches targeting the CNS in neuronopathic MPS, discusses clinical trials conducted to date, and provides a vision for the future implications of these therapies for the medical community. Recent advances in the field, as well as limitations relating to efficacy, potential toxicity, and immunogenicity, are also discussed.This research received no external funding

Reduction-elimination of persistent organic micropollutants from environmental samples

[Resumen] En los últimos años, con la llegada del desarrollo demográfico e industrial, se ha producido un incremento de los contaminantes orgánicos persistentes en ambientes acuáticos, que se bioacumulan provocando efectos adversos sobre los ecosistemas. Un caso concreto lo constituyen las aguas residuales de origen agrícola debido al empleo masivo de plaguicidas. Actualmente, se plantea un nuevo enfoque de la gestión hídrica que tiene como finalidad regenerar estas aguas residuales contaminadas. Este trabajo se centra en la degradación de dos de esos contaminantes de origen agrícola, el pirimetanil y el propiconazol, empleados como fungicidas en los cítricos. Para ello, se estudian tres tratamientos de oxidación avanzada: fotolisis con luz Vis, fotólisis con luz UV y fotocatálisis en presencia del semiconductor TiO2. Se irradian disoluciones con concentraciones del orden de 50μM de los fungicidas citados durante 2 o 3 horas. Se analizan las muestras mediante espectrometría Uv-Vis y HPLC. Los fotoproductos obtenidos se identifican a través de espectrometría de masas. También se realiza análisis de carbono orgánico total (TOC) para las muestras más significativas. Los resultados obtenidos muestran una degradación eficiente para las muestras de propiconazol irradiadas con luz UV, en cambio las irradiadas con luz Vis presentan una resistencia elevada a la fotodegradación. En el caso del pirimetanil la degradación es prácticamente nula con ambas fuentes de radiación, haciendo de este compuesto un contaminante persistente. Se identificaron 3 fotoproductos derivados de la fotólisis directa con luz UV del propiconazol mediante el empleo de la técnica de espectrometría de masas.[Resumo] Nos últimos anos, coa chegada do desenvolvemento demográfico e industrial, produciuse un incremento dos contaminantes orgánicos persistentes nos ambientes acuáticos, que se bioacumulan provocando efectos adversos sobre os ecosistemas. Un caso concreto constitúeno as aguas residuais de orixen agrícola debido ao uso masiva de plaguicidas. Acualmente, plantéase un novo enfoque da xestión hídrica que ten como finalidade rexenerar estas aguas residuais contaminadas. Este traballo céntrase na degradación de dous deses contaminantes de orixen agrícola, o pirimetanil e o propiconazol, empregados como fungicidas nos cítricos. Para iso, estúdiase tres tratamentos de oxidación avanzada: a fotólise con luz Vis, fotólise con luz UV e fotocatálise en presencia do semiconductor TiO2. Irrádianse disolucións con concentracións do orden de 50μM dos fungicidas citados durante 2 ou 3 horas. Logo, analízanse as mostras mediante espectrometría Uv-Vis e HPLC. Os fotoproductos obtidos identifícanse a través de espectrometría de masas. Tamén se realizan análises de carbono orgánico total (TOC) para as mostras máis significativas. Os resultados obtidos mostran unha degradación eficiente para as mostras de propiconazol irradiadas con luz UV, en cambio as irradiadas con luz Vis presentan unha resistencia elevada á fotodegradación. No caso do pirimetanil, a degradación é prácticamente nula con amba-las dúas fontes de radiación, facendo deste composto un contaminante persistente. Identificáronse 3 fotoproductos derivados da fotólisis directa con luz UV do propiconazol mediante o empleo da técnica de espectrometría de masas.[Abstract] In recent years, with the advent of demographic and industrial development, there has been an increase of persistent organic pollutants in aquatic environments, bioaccumulative causing adverse effects on ecosystems. A particular case is that of wastewater from agriculture due to massive use of pesticides. Currently, a new approach to water management that aims to regenerate these contaminated wastewater arises. This work focuses on the degradation of two of these pollutants of agricultural origin, pyrimethanil and propiconazole, used as fungicides in citrus using treatments advanced oxidation as Vis light photolysis, UV light photolysis and photocatalysis with TiO2 semiconductor. Solutions of 50μM concentrations of the fungicides are irradiated for 2 or 3 hours. The samples are analyzed by UV-Vis spectrometry and HPLC. Photoproducts obtained are identified by mass spectrometry. Analysis of total organic carbon (TOC) for the most significant samples were also performed. The results show an efficient degradation for samples irradiated by UV propiconazole, however irradiated with Vis light have a high resistance to photodegradation. In the case of pyrimethanil degradation it is negligible with both radiation sources, making this a persistent contaminant compound. Photoproducts resulting from direct photolysis with UV light of propiconazole by employing the technique of mass spectrometry were identified.Traballo fin de grao (UDC.CIE). Química. Curso 2014/201

Postnatal exposure to organic pollutants in maternal milk in north-western Spain

Financiado para publicación en acceso aberto: Universidade de Vigo/CISUGEvaluation of postnatal exposure to organic pollutants is especially important for suckling infants during breastfeeding, a crucial perinatal growth period when organs and hormonal systems develop. We determined levels of 60 pollutants, including organochlorine pesticides (OCPs), organophosphorus pesticides (OPPs), pyrethroids (PYRs), polychlorinated biphenyls (PCBs), polycyclic aromatic hydrocarbons (PAHs), and polybrominated diphenyl ethers (PBDEs), in 81 breast milk samples from breastfeeding mothers from Santiago de Compostela (north-western Spain). For most detected organic pollutants, levels were correlated with the season of milk sampling, maternal age at delivery, and place of residence. Dietary consumption habits (eggs, molluscs, and vegetable oils) were also correlated with OCP, OPP, PCB, PBDE and PYR levels. We also assessed the risk to infant health of exposure to organic pollutants in breast milk. PAHs, OCPs, OPPs, and PYRs accounted for almost 95% of the targeted organic pollutants in the samples analysed.Xunta de Galicia | Ref. GRC-ED431C 2022/35Instituto de Salud Carlos III (ISCIII) | Ref. RD21/ 001

Definition of an Artificial Reef Unit through Hydrodynamic and Structural (CFD and FEM) Models—Application to the Ares-Betanzos Estuary

[Abstract] The application of hydrodynamics to the definition of artificial reefs is of great interest since the positioning of the artificial reef modules on the sea floor alters the water velocity field, causing an appropriate circulation of nutrients and promoting a habitat for settling desired species. Nevertheless, the designs must be subjected to a structural calculation that will condition the constructive process to be applied. The present research proposes a methodology to determine the geometry of an artificial reef in terms of hydrodynamic and structural criteria. The solution proposed was analyzed through Computational Fluid Dynamics (CFD) and the Finite Element Method (FEM). Using concrete as base material for artificial reefs, four different dosages were proposed with different proportions of cement and water, leading to different mechanical properties, which determine different constructive strategies, such as dwell time in the mold. From the hydrodynamic point of view, it was found that the solution proposed provides a proper replacement of nutrients. From the structural point of view, it was found that the solution proposed does not need steel reinforcements in concrete, which improves the sustainability of the artificial reef. The four different concrete dosages will condition the constructive strategy through the dwelling time in the mold and, for any established production, the necessary number of molds (formworks).Xunta de Galicia; CN-10MMA003C

Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal Disorder

Genetic testing is a good predictor of lactase persistence (LP) in specific populations but its clinical utility in children is less clear. We assessed the role of lactose malabsorption in functional gastrointestinal disorders (FGID) in children and the correlation between the lactase non-persistence (LNP) genotype and phenotype, based on exhaled hydrogen and gastrointestinal symptoms, during a hydrogen breath test (HBT). We also evaluate dairy consumption in this sample. We conducted a 10-year cross-sectional study in a cohort of 493 children with suspected FGID defined by Roma IV criteria. Distribution of the C/T-13910 genotype was as follows: CC, 46.0%; TT, 14.4% (LP allele frequency, 34.1%). The phenotype frequencies of lactose malabsorption and intolerance were 36.3% and 41.5%, respectively. We observed a strong correlation between genotype and both lactose malabsorption (Cramér’s V, 0.28) and intolerance (Cramér’s V, 0.54). The frequency of the LNP genotype (p = 0.002) and of malabsorption and intolerance increased with age (p = 0.001 and 0.002, respectively). In 61% of children, evaluated dairy consumption was less than recommended. No association was observed between dairy intake and diagnosis. In conclusion, we found a significant correlation between genotype and phenotype, greater in older children, suggesting that the clinical value of genetic testing increases with ageS

Bone Status in Patients with Phenylketonuria: A Systematic Review

Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Although dietary and, in some cases, pharmacological treatment has been successful in preventing intellectual disability in PKU patients who are treated early, suboptimal outcomes have been reported, including bone mineral disease. In this systematic review, we summarize the available evidence on bone health in PKU patients, including data on bone mineral density (BMD) and bone turnover marker data. Data from cohort and cross-sectional studies of children and adults (up to 40 years of age) were obtained by searching the MEDLINE and SCOPUS databases following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. For each selected study, quality assessment was performed applying the Risk Of Bias In Non-randomized Studies of Interventions (ROBINS I) tool. We found that mean BMD was lower in PKU patients than in reference groups, but was within the normal range in most patients when expressed as Z-score values. Furthermore, data revealed a trend towards an imbalance between bone formation and bone resorption, favoring bone removal. Data on serum levels of minerals and hormones involved in bone metabolism were very heterogeneous, and the analyses were inconclusive. Clinical trials that include the analysis of fracture rates, especially in older patients, are needed to gather more evidence on the clinical implications of lower BMD in PKU patients

Treatment adherence in tyrosinemia type 1 patients

Background: While therapeutic advances have signifcantly improved the prognosis of patients with hereditary tyrosinemia type 1 (HT1), adherence to dietary and pharmacological treatments is essential for an optimal clinical outcome. Poor treatment adherence is well documented among patients with chronic diseases, but data from HT1 patients are scarce. This study evaluated pharmacological and dietary adherence in HT1 patients both directly, by quantifying blood levels nitisinone (NTBC) levels and metabolic biomarkers of HT1 [tyrosine (Tyr), phenylalanine (Phe), and succinylacetone]; and indirectly, by analyzing NTBC prescriptions from hospital pharmacies and via clinical inter views including the Haynes-Sackett (or self-compliance) test and the adapted Battle test of patient knowledge of the disease. Results: This observational study analyzed data collected over 4 years from 69 HT1 patients (7 adults and 62 children; age range, 7months-35 years) who were treated with NTBC and a low-Tyr, low-Phe diet. Adherence to both pharmacological and, in particular, dietary treatment was poor. Annual data showed that NTBC levels were lower than recommended in more than one third of patients, and that initial Tyr levels were high (>400µM) in 54.2-64.4% of patients and exceeded 750µM in 25.8% of them. Remarkably, annual normalization of NTBC levels was observed in 29.4-57.9% of patients for whom serial NTBC determinations were performed. Poor adherence to dietary treatment was more refractory to positive reinforcement: 36.2% of patients in the group who underwent multiple analyses per year maintained high Tyr levels during the entire study period, and, when considering each of the years individually this percentage ranged from 75 to 100% of them. Indirect methods revealed percentages of non-adherent patients of 7.3 and 15.9% (adapted Battle and Haynes tests, respectively). Conclusions: Despite initially poor adherence to pharmacological and especially dietary treatment among HT1 patients, positive reinforcement at medical consultations resulted in a marked improvement in NTBC levels, indicating the importance of systematic positive reinforcement at medical visits.Funding. NTBC determination was funded by SOBI. Acknowledgements. The authors thank all participating centers, as well as the patients and their families