Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability

Background: A pattern of major and minor congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties, including cognitive and social impairments has been reported in some children exposed to sodium valproate (VPA) during pregnancy. Recognition of the increased risks of in utero exposure to VPA for congenital malformations, and for the neurodevelopmental effects in particular, has taken many years but these are now acknowledged following the publication of the outcomes of several prospective studies and registries. As with other teratogens, exposure to VPA can have variable effects, ranging from a characteristic pattern of major malformations and significant intellectual disability to the other end of the continuum, characterised by facial dysmorphism which is often difficult to discern and a more moderate effect on neurodevelopment and general health. It has become clear that some individuals with FVSD have complex needs requiring multidisciplinary care but information regarding management is currently lacking in the medical literature. Methods: An expert group was convened by ERN-ITHACA, the European Reference Network for Congenital Malformations and Intellectual Disability comprised of professionals involved in the care of individuals with FVSD and with patient representation. Review of published and unpublished literature concerning management of FVSD was undertaken and the level of evidence from these sources graded. Management recommendations were made based on strength of evidence and consensus expert opinion, in the setting of an expert consensus meeting. These were then refined using an iterative process and wider consultation. Results: Whilst there was strong evidence regarding the increase in risk for major congenital malformations and neurodevelopmental difficulties there was a lack of high level evidence in other areas and in particular in terms of optimal clinical management.. The expert consensus approach facilitated the formulation of management recommendations, based on literature evidence and best practice. The outcome of the review and group discussions leads us to propose the term Fetal Valproate Spectrum Disorder (FVSD) as we feel this better encompasses the broad range of effects seen following VPA exposure in utero. Conclusion: The expert consensus approach can be used to define the best available clinical guidance for the diagnosis and management of rare disorders such as FVSD. FVSD can have medical, developmental and neuropsychological impacts with life-long consequences and affected individuals benefit from the input of a number of different health professionals.Peer reviewe

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith-Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways

Originalidad cristiana de la filosofía en conmemoración del centenario de la encíclica "Aeterni Patris"

El problema suscitado por el presente tema continúa candente hoy, a pesar de los debates de los años 30 entre los filósofos famosos en Europa sobre la filosofía cristiana.' ¿Qué significa este problema, importante para el cristiano en el mundo actual? Desarrollando una investigación filosofológica, es decir, una investigación filosófica sobre la filosofía en la perspectiva del presente tema, el referido problema se impone en términos nítidos: Existiendo y operando, hoy como ayer, el cristiano y precisando indispensablemente, como ser racional, de la filosofía, ¿qué tipo de filosofía debe él abrazar para no traicionar su fe? ¿Cualquier tipo, aún aquella filosofía que siguen los no cristianos, los anti-cristianos, o una filosofía diferente, de carácter nuevo u original? ¿Queriendo ser fiel a las exigencias racionales de la filosofía y, al mismo tiempo a las exigencias de su fe, no cae el cristiano en una equivocación lamentable, en una contradicción? En otras palabras: ¿Existe una legítima originalidad cristiana de filosofía y, si existe, en qué consiste?..

La tridimensionalidad crítica de la reflexión completa

Resumen: La cuestión filosófica acerca del valor cognoscitivo de la ciencia humana integral y su solución por la gnoseología crítica constituye hoy, por varios motivos, una exigencia fundamental de la cultura, no sólo desde el punto de vista, teórico sino también desde el aspecto práctico. La actual problemática social, la educación, la formación de la personalidad, N moralidad y la religión implican, de una o de otra manera, las contribuciones gnoseológicas, que .consideren todos los datos innegables del conocimiento de la verdad y todos los aspectos esenciales al respecto. La teoría y la práctica humanas exigen como fundamento la gnoseología pluridimensional, que acoge, con docilidad, en su realismo la multiplicidad de los datos evidentes referentes al conocimiento lrumano y la variedad de sus aspectos, oponiéndose así al filosofar gnoseológico ideológico, unilateral o unidimensional, estrecho y cerrado, que exalta este o aquel aspecto de nuestro conocimiento, mutilándolo y también destruyéndolo radicalmente. Precisamente de aquí resulta la necesidad de asociar la gnoseología pluridimensional crítica a la fenomenología del conocimiento, también pluridimensional, que constata la existencia de nuestro conocimiento como un dato natural innegable, indicando en este dato, con actitud de sinceridad y neutralidad realista, la presencia de tales o cuales elementos constitutivos del conocimiento cierto de la verdad, que constituyen los presupuestos de la solución equilibrada del problema gnoseológico-crítico, desde todos los puntos de vista