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01 januari 2023, Item does not contain fulltext, Infantile nephropathic cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, progressive kidney disease, and multiple extrarenal complications (ERCs). Cysteamine postpones the onset of end-stage kidney disease (ESKD) and reduces the incidence of ERCs; however, cysteamine is generally initiated upon establishment of the renal Fanconi syndrome (FS) and partial loss of kidney function, whereas data on long-term effects of cysteamine administered from neonatal age are lacking. An international multicenter retrospective cohort study of siblings with INC was set up to investigate the outcome in relation to age at initiation of cysteamine versus CTNS genotype, with attention to patients treated with cysteamine from neonatal age. None of the siblings treated from neonatal age (n = 9; age 10 ± 6 years) had reached ESKD, while 22% of their index counterparts (n = 9; age 14 ± 5 years) had commenced renal replacement therapy. Siblings treated with cysteamine from the onset of symptoms at a younger age compared with their index counterparts, reached ESKD at a significant older age (13 ± 3 vs. 10 ± 3 years, p = 0.002). In contrast, no significant difference in ERCs was observed between sibling and index patients, independently from the age at initiation of cysteamine. The CTNS genotype had no impact on the overall outcome in this cohort. In INC, presymptomatic treatment with cysteamine results in a better renal outcome in comparison to treatment initiated from the onset of symptoms. This justifies including cystinosis into newborn screening programs. SYNOPSIS: In infantile nephropathic cystinosis, presymptomatic treatment with cysteamine improves the renal outcome which justifies the inclusion of cystinosis into newborn screening programs.

Contains fulltext : 204259.pdf (publisher's version ) (Closed access), BACKGROUND: Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome. METHODS: We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form. RESULTS: Adequate data were collected on 340 patients (29 countries, female 52%). Mutation testing had been performed on 206 patients (61%); pathogenic mutations were identified in 170 patients (83%). The median (range) presentation age was 0.5 (0-54) years and age at last follow-up was 11.0 (0-70.0) years. Adult height was slightly below average with a mean (SD score) of -0.57 (+/-1.16). There was an increased prevalence of chronic kidney disease (CKD) Stage >/=2 in children (35%) and adults (82%). Nephrocalcinosis was reported in 88%. Nephrolithiasis was more common with SLC4A1 mutations (42% versus 21%). Thirty-six percent had hearing loss, particularly in ATP6V1B1 (88%). The median (interquartile range) prescribed dose of alkali (mEq/kg/day) was 1.9 (1.2-3.3). Adequate metabolic control (normal plasma bicarbonate and normocalciuria) was achieved in 158 patients (51%), more commonly in countries with higher gross domestic product (67% versus 23%), and was associated with higher height and estimated glomerular filtration rate. CONCLUSION: Long-term follow-up from this large dRTA cohort shows an overall favourable outcome with normal adult height for most and no patient with CKD Stage 5. However, 82% of adult patients have CKD Stages 2-4. Importance of adequate metabolic control was highlighted by better growth and renal function but was achieved in only half of patients.

Aunque los cambios demográficos han proporcionado oportunidades para la existencia de relaciones intergeneracionales más intensas y duraderas, se necesitan más investigaciones para entender la relación entre nietos adultos y abuelos. En este estudio, de naturaleza cuantitativa, se analizan las percepciones de los nietos adultos de las relaciones con sus abuelos. Se investiga, a través de un cuestionario cerrado, la frecuencia, la tipología de contactos, la calidad de las relaciones, las actividades compartidas y el significado actual del rol de los abuelos. La investigación se basa en una muestra de conveniencia, compuesta por estudiantes de Educación Superior (64 nietas y 64 nietos), en su mayoría solteros y con edades entre 18 y 37 años. La mayoría de los abuelos viven en su propia residencia y su salud es percibida como razonable o buena. Los resultados evidencian que: (i) los contactos de la díada ocurren sobre todo de manera presencial, con una frecuencia semanal o diaria, siendo mayor el contacto no presencial entre los estudiantes de menores edades; (ii) la mayoría de los(as) nietos(as) perciben la relación con sus abuelos como bueno o excelente; (iii) las nietas, en comparación con los nietos, realizan más actividades domésticas y de acompañamiento con los abuelos, aunque ambos géneros compartan menos actividades de entretenimiento; (iv) unánimemente los estudiantes valoran de manera positiva el rol de los abuelos en sus vidas como promotores de la entidad y continuidad familiar, fuentes de valores, destrezas y conocimientos. Con todo, las nietas perciben más a sus abuelos como ejemplos de vida y modelos de influencia en sus vidas actuales. Los hallazgos confirman que el género influye en las relaciones intergeneracionales, destacándose la construcción social del rol de la mujer como cuidadora. Es esencial que los distintos agentes educativos estén conscientes de estos sesgos de género., Although demographic changes have provided opportunities for the existence of longer bonds and lasting intergenerational relationships, further research is needed to understand the relationship between adult grandchildren and grandparents. In this quantitative study, perceptions of adult grandchildren relationships with their grandparents are analyzed. It is taking into account the frequency, type of contacts, relationships´ quality, shared activities and current significance of grandparents´ role through a closed questionnaire. The research is based on a convenience sample of higher education students (64 grandchildren and 64 grandchildren), mostly unmarried and aged between 18 and 37 years. Most of grandparents live in their own homes and their health is perceived as reasonable or good. Data revealed that (i) dyad contacts occur primarily face to face, on a weekly or daily basis, particularly non-face to face contact among younger students; (ii) most of the grandchildren perceive the relationship with their grandparents as good or excellent; (iii) the granddaughters, compared with grandsons, participate more with their grandparents on domestic and accompanying activities, although both genders share less entertainment activities; (iv) unanimously students value positively grandparents´ role in their lives as promoters of family entity and continuity, sources of values, skills and knowledge. However, granddaughters recognize more their grandparents as examples of life and an influence on their current lives. Findings confirm that gender influences intergenerational relationships, highlighting the social construction of women´s role as caregivers. It is essential that educational agents be aware of these gender biases.

En la sociedad contemporánea, en la que la estructura familiar ha sufrido modificaciones apreciables, las relaciones entre la Escuela y la Familia son imprescindibles. Asimismo, en la última década se han desarrollado distintos estudios sobre las interacciones entre estos dos microsistemas. Sin embargo, estas interacciones no han producido logros importantes en las relaciones Escuela-Familia. Este estudio exploratorio, de naturaleza cualitativa, busca identificar, a través del análisis de los contenidos de los mensajes escritos, que tipo de información es transmitida entre la Escuela y la Familia. Se trata de un estudio de caso único, relativo a una clase de 24 alumnos del segundo año de la Enseñanza Primaria de una escuela pública del norte-litoral de Portugal. Los datos se han recogido al finalizar el curso académico. Los resultados demostraron que los mensajes más enviados por la Escuela para la Familia se centraron en los problemas de disciplina y a continuación la demanda de contactos personales con los padres, solicitudes (documentación y materiales escolares) e informaciones (reuniones de padres y permisos para visitas de estudio). A su vez, la Familia envió sobre todo mensajes de justificantes de ausencia a clase o de deberes escolares que faltaban, de solicitudes de contactos personales, de recomendaciones sobre cómo supervisar o administrar la toma de la medicación de los estudiantes, el apoyo a su hijo en la escuela y pautas para el seguimiento en casa de las tareas de estudio con sus educandos. Los resultados destacan que la comunicación de la Escuela con la Familia se basa en relaciones unilaterales y limitadas, mientras la Familia se centra más en las necesidades de sus hijos. La relación Escuela-Familia necesita ser reconstruida ya que actualmente es asimétrica. Es, por lo tanto, esencial reflexionar sobre esta realidad escolar y, emprender iniciativas serias y concertadas entre los microsistemas., In contemporary society, in which family structure has undergone significant changes, the relationship between school and family is essential. Furthermore, in the last decade various studies have focused on the interactions between these two microsystems. Although, until now, they didn’t make significant achievements in school-home relationships. This exploratory and qualitative study seeks to identify, through the analysis of the contents of the written messages, what kind of information is transmitted between school and family. It is a single case study relating to a class of 24 students of the second year of primary education in a public school in the north-coast of Portugal. Data were collected in the end of the school year. Results revealed that most of the messages sent by School to Family focused on discipline problems, followed by the scheduling of personal contacts with parents, requests (documentation and school supplies) and information (parent meetings and study visits). In turn, most of the messages sent by Family to School were regarding justifications of absence in the class or homework assignments, requests for scheduling personal contacts, supervising of medication and guidance in handling study assignments at home. Results emphasize that communication from school to families is based on a unilateral and limited relationship, while families focused more on the needs of their children. School-Parent relationship needs to be reconstructed because it is currently asymmetric. It is, therefore, essential to reflect about school reality and to undertake serious and mutual initiatives between this microsystems.