Vejez, pobreza y algunas alternativas a las residencias de ancianos ante la nueva situación social.

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La burocratización del Trabajo Social en Intervención Social.

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Aproximación a los servicios sociales de base en España.

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Vejez, pobreza y algunas alternativas a las residencias de ancianos ante la nueva situación social.

Sin resume

La definición de los servicios sociales en las leyes de servicios sociales de "primera" y "segunda generación" en España

Al hilo de la reciente aprobación de las leyes 11/2003, de 27 de marzo, de Servicios Sociales de la Comunidad Autónoma de Madrid y 1/2003, de 24 de febrero, de Servicios Sociales de la Comunidad Autónoma del Principado de Asturias, mediante las cuales se han venido a derogar, respectivamente, las Leyes 11/1984, de 6 de junio y 5/1987, de 11 de abril, este trabajo pretende analizar en qué medida dichas leyes suponen una nueva forma de entender los Servicios Sociales o una adaptación coyuntural de concepciones preexistentes a nuevas realidades y problemas sociales. Para tal fin se examinarán, en primer lugar, las características principales y la definición que se deriva de las primeras 17 leyes de Servicios Sociales aprobadas en España, o leyes de "primera generación", y, en segundo lugar, las de las 6 leyes de "segunda generación": la madrileña y la asturiana, así como las leyes 4/1993, de 14 de abril, de Servicios Sociales de la Comunidad de Galicia, 5/1996, de 18 de octubre, de Servicios Sociales del País Vasco, 5/1997, de 25 de junio, de Servicios Sociales de la Comunidad Valenciana, y 1/2002, de 1 marzo, de Servicios Sociales de la Comunidad Autónoma de la Rioja.Under the pretext of the recent put into effect of the Act 11/2003, 27 th of March, of Social Services from the Autonomous Community of Madrid, and the Act 1/2003, 24 th of February, of Social Services form the Autonomous Community of Principado de Asturias, this paper analyses if these Acts involve a new way to understand the Social Services (and if this is true in which degree) or a simple and conjunctural adaptation of pre-existing conceptions to new realities and social problems. For such aim, the main characteristics of the 17 first Autonomous Acts (Acts of “first generation”) are explored and they are compared with these two new Acts and the other four Autonomic Acts of Social Services of “second generation”: Act 4/1993, 14th of April, of Social Services from the Autonomous Community of Galicia, Act 5/1996, 18th October, of Social Services from the Autonomous Community of the Basque Country, Act 5/1997, 25th of June, of Social Services from the Autonomous Community of Valencia, and Act 1/2002, 1 st of Mach, of Social Services from the Autonomous Community of la RiojaSocial Services ConceptLegislationConcepto de Servicios SocialesLegislació

Barth syndrome in adulthood: a clinical case.

©2013. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/ This document is the Accepted, version of a Published Work that appeared in final form in Revista Española de Cardiología. To access the final edited and published work see https://doi.org/10.1016/j.rec.2012.05.01

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

Phelan-McDermid syndrome; Intellectual disabilities; Subtelomeric deletion syndromeSíndrome de Phelan-McDermid; Discapacidades intelectuales; Síndrome de deleción subteloméricaSíndrome de Phelan-McDermid; Discapacitats intel·lectuals; Síndrome de deleció subtelomèricaPhelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the SHANK3 gene. SHANK3 codes for a structural protein that plays a central role in the formation of the postsynaptic terminals and the maintenance of synaptic structures. Clinically, patients with PMS often present with global developmental delay, absent or severely delayed speech, neonatal hypotonia, minor dysmorphic features, and autism spectrum disorders (ASD), among other findings. Here, we describe a cohort of 210 patients with genetically confirmed PMS. We observed multiple variant types, including a significant number of small deletions (<0.5 Mb, 64/189) and SHANK3 sequence variants (21 cases). We also detected multiple types of rearrangements among microdeletion cases, including a significant number with post-zygotic mosaicism (9.0%, 17/189), ring chromosome 22 (10.6%, 20/189), unbalanced translocations (de novo or inherited, 6.4%), and additional rearrangements at 22q13 (6.3%, 12/189) as well as other copy number variations in other chromosomes, unrelated to 22q deletions (14.8%, 28/189). We compared the clinical and genetic characteristics among patients with different sizes of deletions and with SHANK3 variants. Our findings suggest that SHANK3 plays an important role in this syndrome but is probably not uniquely responsible for all the spectrum features in PMS. We emphasize that only an adequate combination of different molecular and cytogenetic approaches allows an accurate genetic diagnosis in PMS patients. Thus, a diagnostic algorithm is proposed.REDES/FIBHULP08. FIBHULP PI: 2735. FIBHULP Auchan Reserch Project. FIBHULP. Raregenomics (B2017/BMD-3721)

The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).

Hunter syndrome (mucopolysaccharidosis type II) is a rare and life-limiting multisystemic disorder with an X-linked recessive pattern of inheritance. Short stature is a prominent feature of this condition. This analysis aimed to investigate the effects of enzyme replacement therapy with idursulfase on growth in patients enrolled in HOS - the Hunter Outcome Survey which is a multinational observational database. As of Jan 2012, height data before treatment were available for 567 of 740 males followed prospectively after HOS entry. Cross-sectional analysis showed that short stature became apparent after approximately 8 years of age; before this, height remained within the normal range. Age-corrected standardized height scores (z-scores) before and after treatment were assessed using piecewise regression model analysis in 133 patients (8-15 years of age at treatment start; data available on ≥ 1 occasion within +/-24 months of treatment start; growth hormone-treated patients excluded). Results showed that the slope after treatment (slope=-0.005) was significantly improved compared with before treatment (slope=-0.043) (difference=0.038, p=0.004). Analysis of covariates (age at treatment start, cognitive involvement, presence of puberty at the start of ERT, mutation type, functional classification), showed a significant influence on growth of mutation type (height deficit in terms of z-scores most pronounced in patients with deletions/large rearrangements/nonsense mutations, p<0.0001) and age (most pronounced in the 12-15-year group, p<0.0001). Cognitive involvement, pubertal status at the start of ERT and functional classification were not related to the growth deficit or response to treatment. In conclusion, the data showed an improvement in growth rate in patients with Hunter syndrome following idursulfase treatment

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

Elosulfasa alfa; Qualitat de vida relacionada amb la salut; Síndrome de Morquio AElosulfasa alfa; Calidad de vida relacionada con la salud; Síndrome de Morquio AElosulfase alfa; Health-related quality of life; Morquio A syndromeBackground Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is a progressive and disabling disease characterized by a deficiency of the enzyme N-acetylgalactosamine-6-sulphate sulphatase. Its clinical presentation is very heterogeneous and poorly understood in adults. The aim of this study was to describe the clinical manifestations of MPS IVA in adult patients in Spain and to assess their health-related quality of life (HRQoL). Results Thirty-three patients from nine reference centres participated in the study. The median age was 32 (interquartile range [IQR]: 20.5–40.5) years. The phenotype was classical in 54.5% of patients, intermediate in 33.3% of patients, and non-classical in 12.1% of patients. The most common clinical manifestation was bone dysplasia, with a median height of 118 (IQR: 106–136) cm. Other frequent clinical manifestations were hearing loss (75.7%), ligamentous laxity (72.7%), odontoid dysplasia (69.7%), limb deformities that required orthopaedic aids (mainly hip dysplasia and genu valgus) (63.6%), and corneal clouding (60.6%). In addition, 36.0% of patients had obstructive sleep apnoea/hypopnoea syndrome and 33.3% needed non-invasive ventilation. Cervical surgery and varisation osteotomy were the most common surgical interventions (36.4% each). Almost 80% of patients had mobility problems and 36.4% used a wheelchair at all times. Furthermore, 87.9% needed help with self-care, 33.3% were fully dependent, and 78.8% had some degree of pain. HRQoL according to the health assessment questionnaire was 1.43 (IQR: 1.03–2.00) in patients with the non-classical phenotype, but 2.5 (IQR: 1.68–3.00) in those with the classical phenotype. Seven patients were initiated on enzyme replacement therapy (ERT), but two of them were lost to follow-up. Lung function improved in four patients and slightly worsened in one patient. The distance achieved in the six-minute walk test increased in the four patients who could perform it. HRQoL was better in patients treated with elosulfase alfa, with a median (IQR) of 1.75 (1.25–2.34) versus 2.25 (1.62–3.00) in patients not treated with ERT. Conclusions The study provides real-world data on patients with MPS IVA. Limited mobility, difficulties with self-care, dependence, and pain were common, together with poor HRQoL. The severity and heterogeneity of clinical manifestations require the combined efforts of multidisciplinary teams.BioMarin Pharmaceuticals España SL. funded the writing of this paper

A multicriteria decision analysis (MCDA) applied to three long-term prophylactic treatments for hereditary angioedema in Spain

Introduction: Hereditary angioedema (HAE) is a rare genetic disease that impairs quality of life and could be life-threatening. The aim of this study was to apply a multicriteria decision analysis to assess the value of three long-term prophylactic (LIP) therapies for HAE in Spain. Methods: A multidisciplinary committee of 10 experts assessed the value of lanadelumab (subcutaneous use), C1-inhibitor (C1-INH; intravenous), and danazol (orally), using placebo as comparator. We followed the EVIDEM methodology that considers a set of 13 quantitative criteria. The overall estimated value of each intervention was obtained combining the weighting of each criterion with the scoring of each intervention in each criterion. We used two alternative weighting methods: hierarchical point allocation (HPA) and direct rating scale (DRS). A reevaluation of weightings and scores was performed. Results: Lanadelumab obtained higher mean scores than C1-INH and danazol in all criteria, except for the cost of the intervention and clinical practice guidelines. Under the HPA method, the estimated values were 0.51 (95% confidence interval [CI]: 0.44-0.58) for lanadelumab, 0.47 (95%CI: 0.41-0.53) for C1-INH, and 0.31 (95%CI: 0.240.39) for danazol. Similar results were obtained with the DRS method: 0.51 (95%CI: 0.42-0.60), 0.47 (95%CI: 0.40-0.54), and 0.27 (95%CI: 0.18-0.37), respectively. The comparative cost of the intervention was the only criterion that contributed negatively to the values of lanadelumab and C1-INH. For danazol, four criteria contributed negatively, mainly comparative safety. Conclusion: Lanadelumab was assessed as a high-value intervention, better than C1-INH and substantially better than danazol for LTP treatment of HAE