Can the European EHR Exchange Format Support Shared Decision Making and Citizen-Driven Health Science?

The European Commission published in 2019 the Recommendation on the European Electronic Health Record exchange format (EHRxF) to support citizens and healthcare providers in securely accessing and sharing EHRs. The European EHRxF is expected to contribute to the digital transformation of health and care in the digital single market empowering citizens and building a healthier society. This paper presents areas of work that need to be resolved for the European EHRxF to advance shared decision-making for patients and citizen-centered science.

Identifying the lethal fish egg parasite Ichthyodinium chabelardi as a member of Marine Alveolate Group I.

Cells of the parasitic, unicellular eukaryote Ichthyodinium chabelardi were isolated from eggs of sardine (Sardina pilchardus) and from a previously unrecognized host, bogue (Boops boops), off the Atlantic coast of Portugal. Immediately after release from the infected fish egg or newly hatched larva, I. chabelardi cells were spherical and non-motile. After few minutes, spherical cells became flagellated and motile. Following 2-3 days of incubation and several divisions, spherical flagellated cells developed a twisted elongate shape and moved vigorously. Sequences of the small-subunit ribosomal RNA gene (SSU rDNA) were identical for I. chabelardi of both hosts and so were sequences of ITS1, ITS2 and the 5.8S rRNA gene. This genetic similarity suggests that eggs of sardine and bogue were infected by one single population of I. chabelardi. The SSU rRNA gene sequence of I. chabelardi was, in turn, 97% similar to those of two identical Asian isolates of Ichthyodinium sp. Phylogenetic analyses showed high support for the inclusion of Ichthyodinium in the so-called Marine Alveolate Group I (MAGI). Two morphologically well-described genera, namely Ichthyodinium and Dubosquella, have now been shown to belong to this group of seemingly exclusively parasitic alveolates.

PHYLOGEOGRAPHY OF THE GENUS SPONGITES (CORALLINALES, RHODOPHYTA) FROM CHILE(1).

Both the records and the descriptions of the crustose species of coralline algae on the southeastern coast of South America are from the early 1900s. Unlike other algae species on the coast of Chile, the biogeography and distribution of crustose corallines have not been studied despite their abundance. Through recent studies, it has been determined that the genus Spongites is the most conspicuous genus along the rocky intertidal of the Chilean coasts. It is also common to the entire coast of the Southern Hemisphere; however, the relationship between species and the possible reasons for their distribution is unknown. We used nuclear and mitochondrial genetic markers and SEM observations of morphological characters to examine Spongites samples from the Southern Hemisphere and to establish the phylogeographic relationships of Chilean Spongites with specimens from other southern coasts. The combination of these analyses revealed the following: (i) a monophyletic clade that represents the Chilean Spongites and (ii) a paraphyletic clade for South African, New Zealand, and Argentine samples. Consequently, we postulate two nonexclusive hypotheses regarding the relationship of Spongites species in the Southern Hemisphere: (i) a complex history of extinction, speciation, and recolonization that might have erased original Gondwanan split patterns, and (ii) an Antarctic Peninsula origin for the Chilean Spongites species.

Molecular genetic identification of crustose representatives of the order Corallinales (Rhodophyta) in Chile.

Knowledge on species of the order Corallinales along the coast of Chile is still scarce despite a number of studies and records of other divisions of seaweeds made since the early 20th century. This lack of information is more dramatic among crustose representatives of the order, thus depriving biogeographic studies of a thorough analysis and resulting in inadequately representative accounts of biodiversity. The currently changing taxonomy of the group makes it difficult to identify and differentiate among taxa based on morphological and developmental characters. Therefore, the use of molecular tools has been adopted in this study in order to facilitate identification and comparison of crustose corallines collected at the rocky intertidal between 27 degrees and 48 degrees S along the Pacific temperate coast of South America. A sequence 600bp (in length) from the SSU-rDNA gene was used to identify five taxa to the genus level: Lithophyllum, Spongites, Mesophyllum, Synarthrophyton, and Leptophytum. In all cases, the genus distinction based on morphological characters coincide with designations based on variation in the ribosomal DNA gene sequence. Spongites is the most frequently occurring genus and is found in all localities sampled while the others appear occasionally. Taxa recognition at species level must be examined with caution considering that morphological variability is not well understood in Chile because the SSU-rDNA region sequence does not always stand alone as an unambiguous means of identifying all coralline species. In such cases, more rapidly evolving markers are needed. For example, sequences from the ITS (rDNA) region often provide greater resolution among closely related species and genera. However, the methodology presented here remains a useful tool for species-level identification.

[Phenotypic evolution in adrenoleukodystrophy]. / Evolução fenotípica na adrenoleucodistrofia.

The X-linked adrenoleukodystrophy (ALD) is a genetic disease, caused by a defect mapped to Xq28. It is characterised by progressive demyelination of the cerebral white matter and adrenal insufficiency. The most important change that occurs is the accumulation of very long chain fatty acids (VLCFAs). The authors describe a patient whom the initial phenotype was Addison disease only (AO). With 21 years old he developed neurological complaints and the electrophysiological and neuroradiological studies performed, confirmed the phenotypic change from AO to pure Adrenomyeloneuropathy. Less than 2 years later, the clinical condition worsened and the magnetic resonance performed confirmed cerebral involvement by the disease. The authors point out the need to determine the levels of VLCFAs in all men with adrenal insufficiency. They also put much emphasis on the endocrinology and neurology following of any patient with ALD because of the possibility of a phenotypic change to occur.

Prevalencia de dolor crónico neuropático en pacientes quemados: utilización del instrumento DN4 para su diagnóstico / Prevalence of neuropathic chronical pain in burnt patients: use of DN4 tool for diagnosis purposes

Introducción: El dolor en los pacientes quemados es uno de los más complejos, intensos y prolongados en el tiempo. La tendencia mundial muestra una disminución de ña tasa de mortalidad con aumento de los sobrevivientes por quemaduras. Se sabe que los pacientes, luego del alta, siguen sintiendo dolor. Quisimos saber la prevalencia de Dolor Neuropático, utilizando para su diagnóstico un Cuestionario-instrumento (DN4). Material y Método: estudio clínico, descriptivo, prospectivo de prevalencia. Incluyó 34 pacientes a los que se les aplicó el DN4 para diagnóstico de Dolor Neuropático. Egresados del Servicio de Cirugía Plástica y Quemados del Hospital del Trabajador de Santiago, controlados en el Policlínico de Rehabilitación. Resultados: 97.1 por ciento fueron hombres, edad 38.1 años. Superficie Corporal Quemada de 16.8 +/- 19.7 por ciento. Agentes causales: Eléctricas, 53.6 por ciento; térmicas, 40.5 por ciento; y químicas, 3.2 por ciento. El DN4 fue positivo 88.2 por ciento. Intensidad del dolor de moderado a severo. El Dolor Neuropático se asoció más a quemaduras de menor extensión. Conclusión: El diagnóstico de dolor crónico de tipo neuropático, utilizando el instrumento DN4 ocupó un alto porcentaje (88.2 por ciento) de nuestros pacientes estudiados. Asociándose más a los pacientes con quemaduras de menor extensión. Este dolor es de intensidad moderada a severa y que requiere ser tratado.

Introduction: pain a patients with burns is one of the most complex, intense and prolongued in time. The world trend shows a reduction in mortality rate with increasing number of survivors. It is known that after medical discharge, patients still suffer from pain. We wished to know the prevalence of neuropathic pain using for diagnosis purposes a Questionnaire - tool called DN4. Material and Method: Clinical, descriptive prospective study of prevalence. The study comprised 34 patients with whom the DN4 was used for Neuropathic pain diagnosis purposes. Discharged from the Hospital del Trabajador de Santiago Plastic Surgey and Burnt Unit with controls at the Rehabilitation Clinic. Results: 97.1 percent male patients whose average age was 38.1 years. Burned Corporal Area 16.8 +/- 19.7 percent. Causes: Electrical, 56.3 percent; thermic, 40.5 percent; and chemical, 3.2 percent. DN4 was positive in 88.2 percent. Pain intensity from moderate to accute. Neuropathic pain was associated to less wide burns. Conclusion: Neuropathic type chronic pain diagnosis with the help of DN4 resulted in a rather high percentage (88.2 percent) of the patients in this study, proving to be more in association to patients with less wide burns. This is a moderate from accute pain and requires treatment.