Pediatr Nephrol

BACKGROUND: Distal renal tubular acidosis (dRTA), due to impaired acid secretion in the urine, can lead to severe long-term consequences. Standard of care (SoC) oral alkalizers, requiring several daily intakes, are currently used to restore normal plasma bicarbonate levels. A new prolonged-release formulation, ADV7103, has been developed to achieve a sustained effect with an improved dosing scheme. METHODS: In a multicenter, open-label, non-inferiority trial (n = 37), patients with dRTA were switched from SoC to ADV7103. Mean plasma bicarbonate values and proportion of responders during steady state therapy with both treatments were compared, as were other blood and urine parameters, as well as acceptability, tolerability, and safety. RESULTS: When switching from SoC to ADV7103, the number of daily intakes was reduced from a median of three to twice daily. Mean plasma bicarbonate was increased and non-inferiority of ADV7103 was demonstrated (p < 0.0001, per protocol), as was statistical superiority (p = 0.0008, intention to treat [ITT]), and the response rate increased from 43 to 90% with ADV7103 (p < 0.001, ITT). Urine calcium/citrate ratio was reduced below the threshold for risk of lithogenesis with ADV7103 in 56% of previously non-responders with SoC (p = 0.021, ITT). Palatability was improved (difference [95% CI] of 25 [10.7, 39.2] mm) and gastrointestinal discomfort was reduced (difference [95% CI] of - 14.2 [- 25.9, - 2.6] mm) with ADV7103. CONCLUSIONS: Plasma bicarbonate levels and response rate were significantly higher with ADV7103 than with SoC. Urine calcium/citrate ratio, palatability, and gastrointestinal safety were significantly improved, supporting the use of ADV7103 as first-line treatment for dRTA. TRIAL REGISTRATION: Registered as EudraCT 2013-002988-25 on the 1st July 2013 Graphical abstract

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

Introduction: Nephronophthisis (NPH) comprises a group of rare disorders accounting for up to 10% of end-stage kidney disease (ESKD) in children. Prediction of kidney prognosis poses a major challenge. We assessed differences in kidney survival, impact of variant type, and the association of clinical characteristics with declining kidney function. Methods: Data was obtained from 3 independent sources, namely the network for early onset cystic kidney diseases clinical registry (n = 105), an online survey sent out to the European Reference Network for Rare Kidney Diseases (n = 60), and a literature search (n = 218). Results: A total of 383 individuals were available for analysis: 116 NPHP1, 101 NPHP3, 81 NPHP4 and 85 NPHP11/TMEM67 patients. Kidney survival differed between the 4 cohorts with a highly variable median age at onset of ESKD as follows: NPHP3, 4.0 years (interquartile range 0.3–12.0); NPHP1, 13.5 years (interquartile range 10.5–16.5); NPHP4, 16.0 years (interquartile range 11.0–25.0); and NPHP11/TMEM67, 19.0 years (interquartile range 8.7–28.0). Kidney survival was significantly associated with the underlying variant type for NPHP1, NPHP3, and NPHP4. Multivariate analysis for the NPHP1 cohort revealed growth retardation (hazard ratio 3.5) and angiotensin-converting enzyme inhibitor (ACEI) treatment (hazard ratio 2.8) as 2 independent factors associated with an earlier onset of ESKD, whereas arterial hypertension was linked to an accelerated glomerular filtration rate (GFR) decline. Conclusion: The presented data will enable clinicians to better estimate kidney prognosis of distinct patients with NPH and thereby allow personalized counseling

Sport and ethno-racial formation: imagined distance in Fiji

Significant research depicts the implications of sport’s role in racial formation located mainly in the ‘Global North’. Yet, there has been less attention afforded to the related role of sport in the ‘Global South’, particularly in divided societies, where the consequences of sports’ influence on ethno-racial relations, are also significant. This study relies on empirical evidence gathered during an in-depth exploration into the role of soccer and rugby in Fijian intergroup relations. Sport is analysed as an arena that not only plays host to ethno-racial groupings but one which is also instrumental in their maintenance and reimagining. In Fiji at least, the organisation and positioning of sport in popular culture and discourse means that it becomes an emblematic sphere, active in the reconfirmation and preservation of ethno-racial division. Through this discussion, this study contributes to sport and racial formation theory, widening the gaze to diverse and divided socio-cultural settings

Functional outcomes in symptomatic versus asymptomatic patients undergoing incisional hernia repair: Replacing one problem with another? A prospective cohort study in 1312 patients

Background: Incisional hernias can be associated with pain or discomfort. Surgical repair especially mesh reinforcement, may likewise induce pain. The primary objective was to assess the incidence of pain after hernia repair in patients with and without pre-operative pain or discomfort. The secondary objectives were to determine the preferred mesh type, mesh location and surgical technique in minimizing postoperative pain or discomfort. Materials and methods: A registry-based prospective cohort study was performed, including patients undergoing incisional hernia repair between September 2011 and May 2019. Patients with a minimum follow-up of 3–6 months were included. The incidence of hernia related pain and discomfort was recorded perioperatively. Results: A total of 1312 patients were included. Pre-operatively, 1091 (83%) patients reported pain or discomfort. After hernia repair, 961 (73%) patients did not report pain or discomfort (mean follow-up = 11.1 months). Of the pre-operative asymptomatic patients (n = 221), 44 (20%, moderate or severe pain: n = 14, 32%) reported pain or discomfort after mean follow-up of 10.5 months. Of those patients initially reporting pain or discomfort (n = 1091), 307 (28%, moderate or severe pain: n = 80, 26%) still reported pain or discomfort after a mean follow-up of 11.3 months postoperatively. Conclusion: In symptomatic incisional hernia patients, hernia related complaints may be resolved in the majority of cases undergoing surgical repair. In asymptomatic incisional hernia patients, pain or discomfort may be induced in a considerable number of patients due to surgical repair and one should be aware if this postoperative complication

Estándar de competencia digital para estudiantes de educación superior de la Universidad de Magallanes de Chile

[spa] De manera de responder al mundo y a la sociedad actual por la cual nos toca transitar, es que hoy es de importancia contar con un estándar de competencia digital para estudiantes en formación universitaria, atendiendo a lo que globalización ha generalizado, lo que el mundo académico nos sugiere y lo que la Universidad de Magallanes (UMAG) entiende por educación, donde explicita en uno de sus objetivos estratégicos, el compromiso de “formar profesionales con las competencias requeridas para insertarse eficazmente en el mundo laboral”, donde además declara que por competencias entiende “la capacidad para actuar eficazmente en un conjunto de situaciones dadas”, y por tanto no se trata “de aptitudes para demostrar conocimientos o talentos”. Así también la Universidad de Magallanes expresa que el perfil de egreso de un profesional de esta institución estará compuesto de competencias genéricas (transversales a toda profesión) y específicas (definen acciones concretas de una determinada profesión), y por otra parte declara una serie de “competencias sello” genéricas para los estudiantes de la UMAG (que serán sello formativo) donde resalta la competencia “habilidades en el uso de las tecnologías de la información y comunicación”, seleccionada entre otras 8 competencias que se entienden imprescindibles para la formación de todo egresado. Estas competencias han sido consideradas institucionalmente en el marco del proyecto “Red Interuniversitaria Nacional de Innovación Curricular” (RINAC - MECESUP - Universidad de Magallanes) como un componente esencial y de valor de los egresados de ésta casa de estudios. El levantamiento de la presente propuesta de estándar se basa fundamentalmente en las mutaciones que la sociedad sufre, en los sistemas educativos y así también en los estudiantes, siguiendo la dinámica de las actualizaciones y experiencias que de manera internacional y nacional han realizado básicamente instituciones de educación superior. Siguiendo con lo anterior, indicar que el proceso de construcción se inicia revisando antecedentes internacionales y nacionales respecto de experiencias desarrolladas en esta área por otros países y en Chile, identificando las principales tendencias en relación a las dimensiones y competencias consideradas por ellos. La mirada y análisis internacional respecto del tema permitió entender las opciones tomadas por otros países e instituciones en la elaboración de sus experiencias, y en la nivel nacional, se revisaron antecedentes relacionados con la política emprendida por el Ministerio de Educación, lo cuál permitió definir el escenario actual en cuál debieran de estar los estudiantes egresados de enseñanza media en el sistema escolar chileno. A partir de este análisis y de los resultados arrojados por un cuestionario original de percepción de habilidades TIC de los estudiantes, debidamente validado por expertos internacionales y fiabilizado, y una prueba de suficiencia de “Computación Básica” propia de la Unidad Tecnológica de Apoyo a la Docencia (UTAD) de la UMAG, aplicadas a los estudiantes que ingresan por primera vez a la vida a esta universidad UMAG, se elabora el “Estándar de Competencia Digital”, considerando como criterios fundamentales la consistencia de las dimensiones y competencias con el currículum formativo genérico de la institución. Contar con un estándar sistematizado permitirá, por una parte, alinear la política educativa Internacional, con la chilena y la institucional en el ámbito de las TIC, y por otra parte dar a conocer con claridad a los distintos actores del sistema educativo institucional de la UMAG y a la comunidad en general, las competencias digitales que se espera que los estudiantes de ésta casa de estudios desarrollen en su proceso formativo, articulando los esfuerzos de todos los que intervienen en el proceso, constituyéndose en una carta de navegación útil tanto para el docente como para los estudiantes, y asegurando que estos últimos adquieran las competencias necesarias para desarrollarse con éxito en los desafíos que impone la actual sociedad.[eng] Responding to the present-day society through which we are destined to move, it is relevant to count with a digital competence standard for the formation of higher education students, in the light of what globalization has generalized, what the academic world suggests us and what the University of Magallanes (UMAG) understands by Education. The UMAG has clarified that the graduate exit profile will be formed by generic and specific competences, declaring a series of generic, “competencias sello”(competences that give identity to pre-graduate and graduate students) and for their students, where the competence “skills in the use of information and communication technologies” selected among other eight competences, as being considered essential in the graduate formation is highlighted. Then, this proposal is based, primarily, on the mutations that the society undergoes, both in the educational system as well as in the learners, following the dynamics of updatings and experiences that nationally and internationally higher education institutions have basically conducted, what it allows to identify the main trends with regard to the dimensions and competences considered by them. From the above and by adding the analysis of results derived from a questionnaire on students’ perception of ICT’s skills, validated and made it reliable by international experts along with a proficiency test on “Basic Computing Science”, pertaining to the institution, applied to the students entering for the first time to this University life, the “Standard of Digital Competence” is elaborated, considering as essential criteria the consistency of the dimensions and competences with the generic educational curriculum of the institution. Counting with a systematized standard will allow, on one side, to align the international educational policy with the Chilean as well as with the institutional one in the field of the ICT’s, and on the other side, to give clarity to the different agents of the educational system the digital competencies that students of this University are expected to improve, providing a navigation chart, useful not only for the teacher but also for the learners, assuring that the latters acquire the necessary competences to develop successfully in the challenges that the society imposes

Cystinuria: clinical practice recommendation

International audienceCystinuria (OMIM 220100) is an autosomal recessive hereditary disorder in which high urinary cystine excretion leads to the formation of cystine stones because of the low solubility of cystine at normal urinary pH. We developed clinical practice recommendation for diagnosis, surgical and medical treatment, and follow-up of patients with cystinuria. Elaboration of these clinical practice recommendations spanned from June 2018 to December 2019 with a consensus conference in January 2019. Selected topic areas were chosen by the co-chairs of the conference. Working groups focusing on specific topics were formed. Group members performed systematic literature review using MEDLINE, drafted the statements, and discussed them. They included geneticists, medical biochemists, pediatric and adult nephrologists, pediatric and adult urologists experts in cystinuria, and the Metabolic Nephropathy Joint Working Group of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN members. Overall 20 statements were produced to provide guidance on diagnosis, genetic analysis, imaging techniques, surgical treatment (indication and modalities), conservative treatment (hydration, dietetic, alkalinization, and cystine-binding drugs), follow-up, self-monitoring, complications (renal failure and hypertension), and impact on quality of life. Because of the rarity of the disease and the poor level of evidence in the literature, these statements could not be graded. This clinical practice recommendation provides guidance on all aspects of the management of both adults and children with cystinuria, including diagnosis, surgery, and medical treatment