British Society of Soil Science

INTRODUCCIÓN: Las variantes bialélicas patogénicas del gen FBP1 causan deficiencia de fructosa-1,6-bisfosfatasa (FBPasa), un error innato del metabolismo caracterizado por episodios recurrentes de hipoglucemia y acidosis metabólica, frecuentemente desencadenados por infecciones o ayuno prolongado. Si no se diagnostica y trata oportunamente, puede tener un impacto negativo en el neurodesarrollo. Este reporte presenta el caso de dos hermanas con manifestaciones clínicas de deficiencia de fructosa-1,6-bisfosfatasa, siendo los primeros casos en México en los que se documenta una variante en el gen causal. CASO CLÍNICO: Dos hermanas, de 12 y 8 años de edad, fueron evaluadas por el servicio de Genética debido a episodios recurrentes de hipoglucemia y acidosis metabólica, además de antecedentes familiares de consanguinidad parental de segundo grado, lo que llevó a sospechar un error innato del metabolismo. Se decidió realizar un estudio genético, que identificó en ambas la variante c.427-8T>A en FBP1 en estado homocigoto, variante de significado incierto no registrada en bases de datos poblacionales. Los análisis bioinformáticos predicen que esta variante altera el proceso de corte y empalme del ácido ribonucleico mensajero (ARNm). El genotipo identificado se correlacionó con las manifestaciones clínicas, compatibles con deficiencia de FBPasa. CONCLUSIONES: El informe presentado amplía el conocimiento sobre una causa poco frecuente de hipoglucemia y acidosis metabólica en pediatría, además de las variantes en el gen FBP1 asociadas con la deficiencia de fructosa-1,6-bisfosfatasa (FBPasa). Esto resalta la relevancia de sospechar enfermedades raras y de emplear pruebas genéticas para optimizar el diagnóstico y manejo de estos casos.

Background: Stress and depression have been increasing among undergraduates in India. The psychological wellbeing of undergraduates in India has become a critical focus of attention for the education community. Evidence shows that positive psychology interventions can be effective in enhancing psychological wellbeing and may help prevent stress and depression in undergraduates. In this study, we aimed to explore the potential effect of positive psychology educational interventions on improving the psychological health of Indian undergraduates. Methods: A 10-week classroom-based positive psychology educational intervention was conducted at the Bhopal School of Social Sciences, Undergraduate Institute (MP), India. Institute undergraduates in their second and third years participated . The participants’ self-reported data on psychological health and self-efficacy were collected and analyzed at pre-intervention (n= 45) and post-intervention (n=45) times. The instrument's reliability and validity were checked with the help of SEM (Structural Equation Model) software. The same software was used for data analysis. Results: The analysis showed that the psychological health of the undergraduates improved after the intervention. Their mean scores on psychological health and self-efficacy were significantly improved, while the symptoms of stress and depression were significantly reduced. Conclusions The study highlighted that a positive psychological intervention improves the psychological health and self-efficacy of undergraduates, even mitigating digital fatigue challenges.

A comprehensive survey of the landscape of persistent identifiers across many disciplines is presented, with assessments of maturity of different PID types and conclusions for the future. [Revised version]

The paper focuses on the astronomical interests of one of most well-known fi-gures of the end of the tenth century Gerbert of Reims (ca. 940/50–1003; a monk in Aurillac, scholasticus in Reims, abbot in Bobbio, illegitimate archbishop of Reims, archbishop of Ravenna and Pope Sylvester II). The paper analyses two of Gerbert’s letters. The first of them (De sphaera addressed to Constantine of Fleury) was probably written around the year 980 and presents the construction and setting of the unique observation hemisphere. The second letter (to brother Adam) was written during the spring of 989. It deals with timekeeping and includes practical instructions for determining the longest presence of sunshine in a particular location. Both letters were addressed to highly educated readers and an analysis of their content allows for an illustrative understanding of certain aspects of medieval geocentric astronomy of the late tenth century.