Recull de Treballs realitzats a Catalunya i publicats a la Revista Medicamenta

En aquesta comunicació s'han recopilat tots aquells treballs realitzats a Catalunya bé per equips de Departaments, principalment de la Universitat, o bé per persones que elaboraren els seus treballs de manera independent, i que foren publicats a la revista 'MEDICAMENTA' en la seva edició pel farmacèutic

Fostering an EU strategy for security sector reform in the Mediterranean: learning from Turkish and Palestinian police reform experiences

In the absence of an overarching strategy, Turkey and the Palestinian territories depict how the EU has adopted different approaches to security sector reform (SSR) which have not facilitated the consolidation of a common EU foreign policy, though the situation might soon change given respective SSR-related documents from the Council and Commission. This report contributes to the security sector debate by stressing that in conflict and post-conflict scenarios endurable SSR requires fomenting synergies between the police and judicial sectors and the inclusion of DDR, in tandem with the institutional implementation of transparent, accountable and democratic oversight mechanisms. There is an adamant need for constructive consistency when applying this central facet of EU foreign policy in the Mediterranean basin and beyond. SSR is an emerging phenomenon in conflict, post-conflict and development scenarios that has acquired a prominent role within the policy agendas of key international actors. As a prelude to the two case studies, and in order to better understand the EU’s end goal, a brief analysis of the two pivotal European SSR documents is provided with particular emphasis on their contribution to develop a more coherent and effective EU presence in this field. More specific consideration is then given to the role played by SSR-related matters within the framework of two EU foreign policy mechanisms towards the Mediterranean: the Euro-Mediterranean Partnership (EMP), also known as the Barcelona Process, and the European Neighbourhood Policy (ENP). The two case studies - Turkey and the Palestinian territories - are exceptional due to the nature of their geopolitical position in regional and international politics. Both demonstrate different levels of state development and different degrees of monopoly over the legitimate use of force, which have contributed to the development of different EU approaches to SSR, tailored to the specific needs of the local context in which the Union is operating. Both cases also demonstrate how the EU emphasizes democracy or security depending on the respective circumstantial differences. Turkey exemplifies by and large the EU accession process of fulfilling democratic reform in return for EU membership. The Palestinian case illustrates how security demands precede democratic apertures. Together, both highlight the lack of a consistent and comprehensive EU SSR strategy, the lack of which continues to impede the emergence of a common EU foreign policy. This study makes a set of recommendations for the two case studies, and concludes with more general ones applicable to the broader Euro-Mediterranean area. These are mainly addressed to the European Commission, Council of the EU (and thus, Member States) and European Parliament. Moreover, the conclusions and recommendations included in this report could inspire the work of various advocacy groups in the fields of SSR, conflict resolution and democracy and human rights promotion given that, based on the “human security” logic, this report departs from the assumption that police reform encapsulates both modernising and democratising processes

A Mutation (G281E) of the Human Uroporphyrinogen Decarboxylase Gene Causes Both Hepatoerythropoietic Porphyria and Overt Familial Porphyria Cutanea Tarda: Biochemical and Genetic Studies on Spanish Patients

Hepatoerythropoietic porphyria is a severe cutaneous porphyria caused by deficiency of uroporphyrinogen decarboxylase and is considered to be the homozygous form of familial (type II) porphyria cutanea tarda. To elucidate further the relation between these conditions, we studied five Spanish families with hepatoerythropoietic porphyria and nine unrelated Spanish patients with familial porphyria cutanea tarda. Immunoreactive and catalytic uroporphyrinogen decarboxylase was decreased by greater than 95% in the five patients with hepatoerythropoietic porphyria. Hepatic uroporphyrinogen decarboxylase activity was decreased to 22% of normal. Four patients were homozygous for a mutation (G281E) originally identified in a Tunisian family; the fifth patient was a compound heterozygote for this mutation. The calculated carrier frequency for G281E in Spain is one in 1800. None of the nine familial porphyria cutanea tarda patients carried the G281E mutation. However, one G281E heterozygote in a family with hepatoerythropoietic porphyria had overt porphyria cutanea tarda. These findings suggest that the G281E mutation is functionally less severe than erythrocyte measurements indicate, that its clinical penetrance is very low in heterozygotes, and that, for this particular mutation, hepatoerythropoietic porphyria is the homozygous form of familial porphyria cutanea tarda

¿OCURREN OLAS DE CALOR EN CUBA?

The Cuban population is adapted to the conditions of the tropical climate, but facing a future warmer scenario of the local climate, it will be necessary to consider the occurrence of very high temperatures, with the capacity to generate “heat waves” with specific meteor-pathological effects on the local population, including the increase of mortality. The relationship among the provincial mean air temperature of Villa Clara in the July-August period from 2001 to 2014 and the behavior of the synchronous daily data of general mortality was studied, being identified several periods of consecutive days with very high extreme air temperatures, in which a significant excess mortality was present. The exploratory analyses and the statistical correlations among the sums of temperatures for serial periods of 3, 5 and 7 days and the accumulated synchronous mortality improved in the same way that increased the longitude of the serial day period. It was demonstrated that the threshold of adaptation of the Cuban population to heat stress is higher than the limits reported in populations of middle and high latitudes, but over certain critical limits, the Cubans also suffers the occurrence of severe meteorpathological effects due to intense heat stress, such as the increase of mortality. The analysis carried out demonstrated the existence of groups of days in some years with similar thermal régime conditions that occurs during heat waves. So, the possibility of occurrence of such impacts under the current and future conditions of the climate of Cuba and other Caribbean countries is certain.La población cubana está adaptada a las condiciones del clima tropical, pero ante un clima futuro más cálido, es necesario considerar la ocurrencia de temperaturas muy elevadas, con la capacidad de generar “olas de calor” con efectos meteoro-patológicos específicos sobre la población local, incluyendo el aumento de la mortalidad. Se estudió la relación entre la temperatura del aire media provincial de Villa Clara en los bimestres julio-agosto desde 2001 a 2014 y el comportamiento de los datos diarios sincrónicos de mortalidad general de toda la provincia, identificándose varios períodos de días consecutivos con temperaturas extremas del aire notablemente altas, en los cuales hubo también una mortalidad en exceso significativa. Los análisis exploratorios y las correlaciones estadísticas entre las sumas de temperaturas para períodos consecutivos de 3, 5 y 7 días y la mortalidad sincrónica acumulada mejoraron en la misma medida que aumentó el período de tiempo considerado, demostrándose que la población cubana tiene un umbral de adaptación mayor al estrés por calor que el reportado en poblaciones de latitudes medias y altas, pero que sobrepasados ciertos límites críticos, también sufre la ocurrencia de efectos meteoro-patológicos extremos, dados en este caso por aumentos de la mortalidad en exceso. El análisis realizado demostró la existencia de grupos de días con régimen térmico que se corresponde con la ocurrencia de olas de calor en algunos años, por lo que resulta cierta la posibilidad de ocurrencia de tales impactos en las condiciones actuales y futuras del clima de Cuba y de otros países del Caribe.La población cubana está adaptada a las condiciones del clima tropical, pero ante un clima futuro más cálido, es necesario considerar la ocurrencia de temperaturas muy elevadas, con la capacidad de generar “olas de calor” con efectos meteoro-patológicos específicos sobre la población local, incluyendo el aumento de la mortalidad. Se estudió la relación entre la temperatura del aire media provincial de Villa Clara en los bimestres julio-agosto desde 2001 a 2014 y el comportamiento de los datos diarios sincrónicos de mortalidad general de toda la provincia, identificándose varios períodos de días consecutivos con temperaturas extremas del aire notablemente altas, en los cuales hubo también una mortalidad en exceso significativa. Los análisis exploratorios y las correlaciones estadísticas entre las sumas de temperaturas para períodos consecutivos de 3, 5 y 7 días y la mortalidad sincrónica acumulada mejoraron en la misma medida que aumentó el período de tiempo considerado, demostrándose que la población cubana tiene un umbral de adaptación mayor al estrés por calor que el reportado en poblaciones de latitudes medias y altas, pero que sobrepasados ciertos límites críticos, también sufre la ocurrencia de efectos meteoro-patológicos extremos, dados en este caso por aumentos de la mortalidad en exceso. El análisis realizado demostró la existencia de grupos de días con régimen térmico que se corresponde con la ocurrencia de olas de calor en algunos años, por lo que resulta cierta la posibilidad de ocurrencia de tales impactos en las condiciones actuales y futuras del clima de Cuba y de otros países del Caribe

Benefits of oral Polypodium Leucotomos extract in MM high-risk patients

Background: UV radiation and the presence of melanocytic nevi are the main risk factors of sporadic melanoma (MM). Protection of skin by an oral photoprotective agent would have substantial benefits. Objective: We investigated the possible role of an oral Polypodium leucotomos (PL) extract to improve systemic photoprotection in patients at risk of skin cancer analyzing the ability to decrease UV‐induced erythema. We also studied the interaction among MC1R polymorphisms and CDKN2A status with the minimal erythematous dose (MED) and their influence in the response after oral PL. Methods: A total of 61 patients (25 with familial and/or multiple MM, 20 with sporadic MM and 16 with atypical mole syndrome without history of MM) were exposed to varying doses of artificial UVB radiation without and after oral administration of a total dose of 1080mg of PL. Results: Oral PL treatment significantly increased the MED mean in all group patients (0.123 to 0.161 J/cm2, p<0.05). Although not significant, we noticed a stronger effect of PL on the MED of patients with familial MM compared to those with MM (U=273, p=0.06). Among the patients with familial MM, those exhibiting a mutated CDKN2A and/or polymorphisms in MC1R had the bigger differences in response to treatment with PL. Limitations: Reduced number of patients. No control population. Conclusions: Administration of PL leads to a significant reduction of sensitivity to UVR (p<0.05) in all patients. Dark‐eye patients and patients with higher UVR sensibility (lower basal MED) would be the most benefited from oral PL treatment

Home enteral nutrition in Spain: NADYA registry 2010

Objetivos: Describir los resultados del registro de nutrición enteral domiciliaria (NED) del grupo NADYASENPE del año 2010. Material y métodos: Se recopilaron los datos introducidos en el registro desde el 1 de enero al 31 de diciembre de 2010. Resultados: Se registraron 6.591 pacientes (51% varones) con 6.688 episodios de NED, procedentes de 32 hospitales. La edad media en los menores de 14 años (4%) fue de 1 ± 2 años (m ± DS) y de 69,9 ± 17,8 en los mayores de 14 años. El 76% de los pacientes recibieron la NED por un tiempo superior a 2 años. La patología más prevalente fue la neurológica 42%, seguida de la neoplasia 28% (en su mayoría cáncer de cabeza y cuello 18%). La información referente a la vía de acceso sólo se recogió en 626 casos (9,4%), el 51% de los pacientes utilizaron sonda nasogástrica, 27% gastrostomías, 10% vía oral y 3% yeyunostomías. Sólo 251 episodios finalizaron a lo largo del año, siendo el motivo más frecuente el fallecimiento del paciente en el 57% de los casos y el paso a la alimentación oral en el 14%. El 29% de los pacientes presentaban una actividad limitada y el 39% estaba confinado en cama/ sillón. El 68% de los adultos requerían ayuda total o parcial. El suministro del producto se realizó desde el hospital o la farmacia de referencia en el 63% y 34%, respectivamente. El suministro del material fungible se realizó desde el hospital o atención primaria en el 83% y 16%, respectivamente. Conclusiones: Los resultados obtenidos en el registro de NED del año 2010 muestran características muy similares a las recogidas en los años previos en cuanto al número y características de los pacientes registrados. Seguimos encontrando problemas en la recogida de datos relativos a la vía de acceso y finalización de los episodiosObjective: To describe the results of the home enteral nutrition (HEN) registry of the NADYA-SENPE group in 2010. Material and methods: We retrieved the data of the patients recorded from January 1st to December 31st 2010. Results: We registered 6,591 patients (51% males) with 6,688 episodes of HEN, from 32 hospitals. Mean age in those younger than 14 yr (4%) was 1 ± 2 yrs (m ± SD) and 69,9 ± 17,8 yrs in those older than 14 yr. The length of HEN was longer than 2 yrs in 76% of the patients. The most frequent underlying disease was neurological disorders 42%, followed by cancer 28% (mostly head and neck cancer 18%). We had information related to the enteral access route in only 626 cases (9,4%), 51% of them used nasogastric tubes, 27% gastrostomies, 10% oral route and 3% jejunostomies. Only 251 episodes were closed during the year, mostly due to patient death 57% and progress to oral diet 14%. The activity level was limited in 29% of the patients and 39% of them were bed- or chairridden. Total or partial help was needed by 68% of the patients. The hospitals and the private pharmacies delivered the enteral formula in 63% and 34% of the cases, respectively. The hospitals and the primary care centres delivered the disposables in 83% and16% of the cases, respectively. Conclusions: The results of the 2010 HEN registry are similar to those published in previous years regarding the number and characteristics of the patients. We continue finding problems in the entrance of data referred to the enteral access route and the closing of the episode

Registro español de nutrición enteral domiciliaria del año 2009; Grupo NADYA-SENPE

Objetivo: Describir las características de la Nutrición Enteral Domiciliaria (NED) en España, registrada por el grupo NADYA-SENPE durante el año 2009. Material y métodos: Recopilación y análisis descriptivo de los datos del registro de NED del grupo NADYASENPE desde el 1 de enero al 31 de diciembre de 2009. Resultados: Se registraron 6.540 pacientes, 5,11% más que en el año anterior y 6.649 episodios de NED (3.135 en mujeres, 47,93%) pertenecientes a 32 centros hospitalarios. Siendo 6.238 (95,38%) mayores de 14 años. La edad media en los menores de 14 años fue de 3,67 ± 2,86 y de 72,10 ± 16,89 en los mayores de 14 años. La enfermedad de base que se registró con más frecuencia fue la neurológica en 2.732 (41,77%) ocasiones, seguida de la neoplasia en 1838; 28,10%. La vía de acceso se registró en 1.123 (17,17%) de los episodios, siendo más frecuente la administración por sonda nasogástrica 562 (50,04%). El tiempo medio de tratamiento nutricional fue de 323 días (10,77 meses). Finalizaron 606 episodios de NED, siendo el motivo más frecuentes el fallecimiento del enfermo, lo que aconteció en 295 (48,68%) ocasiones y el paso a alimentación oral en 219 (36,14%). Los pacientes mantenían una actividad normal en 2162 episodios de NED (32,55%) y en 2468 (37,13%) hacían vida “cama-sillón”. El grado de dependencia fue “total” en 2598 (39,07%) de los episodios registrado. El suministro de la fórmula nutricional se realizó desde el hospital en 4.183 (62,91%) casos y por la farmacia de referencia en 2.262 (el 34,02%) y el material fungible se suministró desde el hospital en 3.531 (53,11%) de los casos. Conclusiones: El número de pacientes con NED registrados es superior al del año 2008, continuando con el incremento progresivo desde el inicio del registro. Las características de los mismos mantiene el mismo perfil que en años anteriores con pequeñas variaciones.Objective: To describe the Home Enteral Nutrition Characteristics (HEN) recorded by the group NADYASENPE during 2009. Material and methods: collection and analysis of the data voluntary recorded in the HEN registry from the NADYASENPE group from January 1st to December 31st. Results: 6.540 HEN patients were registered, 5.11% more than the previous year and 6,649 episodes (3,135 in women, 47,93%) from 32 different hospitals. 6,238 of them (95,38%) were over 14 years. The mean age of the patients under 14 yr was 3,67 ± 2,86 and it was 72,10 ± 16,89 in those over 14 yr group. The base illness registered more frequently was the neurological disorders in 2,732 (41,77%) patients, followed by cancer patients in 1,838; 28,10%. The enteral access route was registered in 1,123 (17,17%) of the episodes, being more frequent the administration by nasogastric tube 562 (50,04%). The mean length of nutritional treatment by episode was 323 days (10,77 months). 606 episodes of HEN ended, being the principal reasons for discontinuing treatment the patient death in 295 (48,68%) occasions. The transition to oral feeding occurred in 219 (36,14%) cases. Patients maintained normal activity in 2162 (32,55%) HEN episodes and 2,468 (37,13%) cases were living “bedcouch”. The level of dependence was “total” in 2,598 (39,07%) of the episodes recorded. The nutritional formula was provided by the hospital in 4,183 (62,91%) cases and by the reference pharmacy in 2,262 (el 34,02%). Consumables were provided by the hospital in 3,531 (53,11%) cases. Conclusions: The number of HEN patients recorded increased from the year 2008, continuing the gradual growth increase since the start of registration. The characteristics of the patients remain in the same profile as in previous years

Erythropoietic protoporphyria

Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. EPP has been reported worldwide, with prevalence between 1:75,000 and 1:200,000. It usually manifests in early infancy upon the first sun exposures. EPP is characterised by cutaneous manifestations of acute painful photosensitivity with erythema and oedema, sometimes with petechiae, together with stinging and burning sensations upon exposure to sunlight, without blisters. These episodes have a variable severity depending on the exposure duration and may result in chronic permanent lesions on exposed skin. As protoporphyrin is a lipophilic molecule that is excreted by the liver, EPP patients are at risk of cholelithiasis with obstructive episodes, and chronic liver disease that might evolve to rapid acute liver failure. In most patients, EPP results from a partial deficiency of the last enzyme of the haem biosynthetic pathway, ferrochelatase, EC 4.99.1.1/FECH (encoded by the FECH gene). EPP appears to be inherited as an autosomal dominant disease, the clinical expression of which is modulated by the presence of the hypomorphic FECH IVS3-48C allele trans, but recessive inheritance with two mutated FECH alleles has also been described. In about 2% of patients, overt disease was recently shown to be caused by gain-of-function mutations in the erythroid-specific aminolevulinic acid synthase 2 (ALAS2/ALAS, EC 2.3.1.27) gene and named X-linked dominant protoporphyria. Diagnosis is established by finding increased levels of protoporphyrin in plasma and red blood cells, and detection of a plasma fluorescence peak at 634 nm. Investigations for hepatic involvement, ferrochelatase activity level, genetic analysis (FECH mutations, presence of the hypomorphic FECH IVS3-48C allele trans and ALAS2 mutations) and family studies are advisable. Differential diagnosis includes phototoxic drug reactions, hydroa vacciniforme, solar urticaria, contact dermatitis, angio-oedema and, in some cases, other types of porphyria. Management includes avoidance of exposure to light, reduction of protoporphyrin levels and prevention of progression of possible liver disease to liver failure. As the major risk in EPP patients is liver disease, a regular follow-up of hepatic involvement is essential. Sequential hepatic and bone marrow transplantation should be considered as a suitable treatment for most severe cases of EPP with hepatic involvement. EPP is a lifelong disorder whose prognosis depends on the evolution of the hepatic disease. However, photosensitivity may have a significant impact on quality of life of EPP patients

Large-scale, prospective, observational studies in patients with psoriasis and psoriatic arthritis: A systematic and critical review

<p>Abstract</p> <p>Background</p> <p>Observational studies, if conducted appropriately, play an important role in the decision-making process providing invaluable information on effectiveness, patient-reported outcomes and costs in a real-world environment. We conducted a systematic review of large-scale, prospective, cohort studies with the aim of (a) summarising design characteristics, the interventions or aspects of the disease studied and the outcomes measured and (b) investigating methodological quality.</p> <p>Methods</p> <p>We included prospective, cohort studies which included at least 100 adults with psoriasis or psoriatic arthritis. Studies were identified through searches in electronic databases (Pubmed, Medline, Cochrane library, Centre for Reviews and Dissemination). Information on study characteristics were extracted and tabulated and quality assessment, using a checklist of 18 questions, was conducted.</p> <p>Results</p> <p>Thirty five papers covering 16 cohorts met the inclusion criteria. There were ten treatment-related studies, only two of which provided a comparison between treatments, and six non-treatment studies which examined a number of characteristics of the disease including mortality, morbidity, cost of illness and health-related quality of life. All studies included a clinical outcome measure and 11 included patient-reported outcomes, however only two studies reported information on patient utilities and two on costs. The quality of the assessed studies varied widely. Studies did well on a number of quality assessment questions including having clear objectives, documenting selection criteria, providing a representative sample, defining interventions/characteristics under study, defining and using appropriate outcomes, describing results clearly and using appropriate statistical tests. The quality assessment criteria least adhered to involved questions regarding sample size calculations, describing potential selection bias, defining and adjusting for confounders and losses to follow-up, and defining and describing a comparison group.</p> <p>Conclusion</p> <p>The review highlights the need for well designed prospective observational studies on the effectiveness, patient-reported outcomes and economic impact of treatment regimes for patients with psoriasis and psoriatic arthritis in a real-world environment.</p