Suchergebnisse

Desde el año 1995 se observa la aparición de un nuevo fenómeno migratorio con la llegada de los Menores Extranjeros No Acompañados (Jiménez, 2003). Aunque los estudios demuestran cómo el flujo migratorio ha experimentado un descenso, los últimos datos refieren que los MENA en protección en España, a 31 de diciembre de 2014, eran un total de 781. Especialmente, Cádiz fue la provincia que registró mayor número de ingresos, el 39,9% (Observatorio de la Infancia en Andalucía, 2016). Cuando el menor llega a la Comunidad Autónoma de Andalucía, se inicia un Protocolo Marco por el que es sometido a pruebas de determinación de la edad y se inicia la tutela por parte de la Junta de Andalucía (Boletín Oficial del Estado, 2014). De manera que, se pone en marcha la medida de protección con el acogimiento residencial (Decreto 355/2003). Sin embargo, cuando estos menores alcanzan su mayoría de edad, la tutela deja de ser efectiva e inician un nuevo proceso de transición a la vida adulta. En algunos casos son trasladados a programas de mayoría de edad, pero en otros casos no cuentan con apoyo suficiente (Asociación Voluntarios por Otro Mundo, 2017). Para hacer frente a esta situación, se propone un proyecto con el objetivo de facilitar la transición a la vida adulta de estos jóvenes en acogimiento residencial, próximos a cumplir los dieciocho años. El proyecto contempla intervenciones a dos niveles. Por un lado, a nivel grupal, cinco talleres sobre los siguientes ámbitos: (a) Habilidades Personales; (b) Socio-comunitario; (c) Laboral; (d) Gestión económica; (e) Labores del hogar. Por otro lado, cuatro sesiones a nivel individual tratando temas laborales y alquiler de viviendas. Palabras claves: Menores Extranjeros No Acompañados (MENA), desamparo y tutela, mayoría de edad, transición a la vida adulta. ; Since 1995, a new migration phenomenon has been observed with the arrival of Unaccompanied Foreign Minors (Jiménez, 2003). Although the studies show how the migratory flow has declined, the latest data show that unaccompanied foreign minors in protection in Spain at 31 December 2014, were a total of 781. In particular, Cádiz was the province with the highest number of revenues, 39,9% (Andalucian Chilhood Observatory, 2016). When the minor arrives in our autonomous community, the Protocol starts, the age is tested and also starts the guardianship by the Regional Government of Andalusia (Official State Gazette, 2014). Then, it starts the measure of protection with the residencial placement (Decree 355/2003). However, when these children reach adulthood, the guardianship ceases and starts a new process of transition to adult life. In some cases, they are transferred to programs for adulthood but in other cases they do not have enough support (Association Volunteers for Another World, 2017). All of this, show us the journey made by a unaccompanied foreign minor in the protection system and the importance of having and adequate output. To deal with this situation, a project is suggested to facilitate the transition to adult life of these young closet o eighteen years. The project includes interventions at two levels. On the one hand, at the group level, five workshops related to the following topics: (a) Personal Skills; (b) Socio-community; (c) Job Skills; (d) Economic Management; (e) Houseld chores. On the other hand, four sessions at an individual level dealing with labor issues and housing rental. Key words: Unaccompanied Foreign Minors, abandonment and guardianship, adulthood, transition.

AbstractKallmann syndrome (KS) is an uncommon genetic disorder characterized by isolated congenital hypogonadotropic hypogonadism (CHH) and anosmia/hyposmia. KS originates from abnormal embryonic migration of olfactory axons and gonadotropin-releasing hormone (GnRH)-synthesizing neurons. It can be challenging to diagnose due to its heterogeneous clinical presentation and genes implied. Herein, we report a rare phenotype of KS in two sisters accompanied by a variety of nonreproductive disorders such as hypoparathyroidism, hypercortisolism, atrophy of the cerebellum, intellectual disability, and remarkably, ovarian dysgenesis. Additionally, both subjects present muscle weakness, exercise intolerance, marked hypotonia and seizures, being suspected, although not fully confirmed, mitochondrial encephalomyopathy. These cases illustrate the heterogeneous clinical presentation and the diagnostic difficulties often found in patients suffering from this condition. These clinical features have never been described before as associated with KS; therefore, we decided to report this novel KS phenotype.

Acknowledgements We would like to thank all participants and funders of PICC and of the individual cohort studies. Members of PICC Steering Group: Dr. Angus D. Macleod, Dr. Carl E. Counsell, University of Aberdeen (chairperson), UK; Prof. Ole-Bjørn Tysnes, University of Bergen, Norway; Marta Camacho, Dr. Caroline Williams-Gray, University of Cambridge, UK; Dr. Rachael A. Lawson, Newcastle University, UK; Dr. Jodi Maple-Grødem, Prof. Guido Alves, Stavanger University Hospital, Norway; Prof. Lars Forgren, Umeå, Dr. David Backstrom, University, Sweden. We acknowledge the contributions of members of the individual study groups: PICNICS study: Principal investigators: Roger A. Barker, Caroline H. Williams-Gray. Study personnel: Jonathan Evans, Gemma Cummins, David P. Breen, Ruwani Wijeyekoon, Kirsten Scott, Tom Stoker, Julia Greenland, Marta Camacho, Natalie Valle Guzman, Lucy Collins, Simon Stott and Sarah Mason. ParkWest Study: ParkWest Principal investigators: Guido Alves (Norwegian Centre for Movement Disorders, Stavanger University Hospital) and Ole-Bjørn Tysnes (Haukeland University Hospital). Study personnel: Michaela Dreetz Gjerstad, Kenn Freddy Pedersen, Elin Bjelland Forsaa, Veslemøy Hamre Frantzen, Anita Laugaland, Jodi Maple-Grødem, Johannes Lange, Karen Simonsen, Eldbjørg Fiske and Ingvild Dalen, Bernd Müller, Geir Olve Skeie and Marit Renså; Wenche Telstad, Aliaksei Labusau and Jane Kastet; Ineke HogenEsch, Marianne Kjerandsen and Liv Kari Håland; Karen Herlofson, Solgunn Ongre and Siri Bruun. The PICC collaboration was funded by the Chief Scientist Office of the Scottish Government, NHS Education for Scotland, and the Academy of Medical Sciences. The PICNICS study has received funding from the Cure Parkinson's Trust, the Van Geest Foundation, the Medical Research Council (MRC) and Parkinson's UK. This work was also supported by the National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre Dementia and Neurodegeneration Theme (grant no. 146281). The views expressed are those of ...

Acknowledgements We would like to thank all participants and funders of PICC and of the individual cohort studies. Members of PICC Steering Group: Dr. Angus D. Macleod, Dr. Carl E. Counsell, University of Aberdeen (chairperson), UK; Prof. Ole-Bjørn Tysnes, University of Bergen, Norway; Marta Camacho, Dr. Caroline Williams-Gray, University of Cambridge, UK; Dr. Rachael A. Lawson, Newcastle University, UK; Dr. Jodi Maple-Grødem, Prof. Guido Alves, Stavanger University Hospital, Norway; Prof. Lars Forgren, Umeå, Dr. David Backstrom, University, Sweden. We acknowledge the contributions of members of the individual study groups: PICNICS study: Principal investigators: Roger A. Barker, Caroline H. Williams-Gray. Study personnel: Jonathan Evans, Gemma Cummins, David P. Breen, Ruwani Wijeyekoon, Kirsten Scott, Tom Stoker, Julia Greenland, Marta Camacho, Natalie Valle Guzman, Lucy Collins, Simon Stott and Sarah Mason. ParkWest Study: ParkWest Principal investigators: Guido Alves (Norwegian Centre for Movement Disorders, Stavanger University Hospital) and Ole-Bjørn Tysnes (Haukeland University Hospital). Study personnel: Michaela Dreetz Gjerstad, Kenn Freddy Pedersen, Elin Bjelland Forsaa, Veslemøy Hamre Frantzen, Anita Laugaland, Jodi Maple-Grødem, Johannes Lange, Karen Simonsen, Eldbjørg Fiske and Ingvild Dalen, Bernd Müller, Geir Olve Skeie and Marit Renså; Wenche Telstad, Aliaksei Labusau and Jane Kastet; Ineke HogenEsch, Marianne Kjerandsen and Liv Kari Håland; Karen Herlofson, Solgunn Ongre and Siri Bruun. The PICC collaboration was funded by the Chief Scientist Office of the Scottish Government, NHS Education for Scotland, and the Academy of Medical Sciences. The PICNICS study has received funding from the Cure Parkinson's Trust, the Van Geest Foundation, the Medical Research Council (MRC) and Parkinson's UK. This work was also supported by the National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre Dementia and Neurodegeneration Theme (grant no. 146281). The views expressed are those of the author(s) and not necessarily those of the NIHR or the Department of Health and Social Care. M.C. is supported by Centre for Parkinson's Plus and funded by the Evelyn Trust (proj ref 19/24). R.A.B. is supported by the Wellcome Trust Stem Cell Institute (Cambridge 203151/Z/16/Z). D.P.B. is supported by a Wellcome Clinical Research Career Development Fellowship (214571/Z/18/Z). C.H.W.G. is supported by a RCUK/UKRI Research Innovation Fellowship awarded by the MRC (MR/R007446/1) and by the Cambridge Centre for Parkinson-Plus. The Norwegian ParkWest study has been funded by the Research Council of Norway (grant number 177966) and the Western Norway Regional Health Authority (grant number 911218), and the Norwegian Parkinson's Disease Association. J.M.-G. and G.A. are supported by the Research Council of Norway (grant number 287842). R.A.L. is supported by a Senior Research Fellowship from Parkinson's UK (F-1801). ; Peer reviewed ; Publisher PDF

INTRODUCTION: Functional dependency in basic activities of daily living (ADLs) is a key outcome in Parkinson's disease (PD). We aimed to define dependency in PD, using the original and MDS versions of the Unified Parkinson's Disease Rating Scale (UPDRS). METHODS: We developed two algorithms to define dependency from items of UPDRS Part 2 and MDS-UPDRS Part 2 relating to basic ADLs (feeding, dressing, hygiene and walking, and getting out of a chair). We validated both algorithms using data from 1110 patients from six community-based PD incidence cohorts, testing concurrent validity, convergent validity, and predictive validity. RESULTS: Our optimal algorithm showed high specificity and moderate to high sensitivity versus Schwab & England <80% (specificity 95% [95% confidence interval (CI) 93-97] and sensitivity 65% [95% CI 55-73] at baseline; 88% [95% CI 85-91] and 85% [95% CI 79-97] respectively at five-years follow-up). Convergent validity was demonstrated by strong associations between dependency defined by the algorithm and cognition (MMSE), quality of life (PDQ39), and impairment (UPDRS part 3) (all p < 0.001). Algorithm-defined dependency status also predicted mortality: HR for mortality in those dependent vs independent at baseline was 1.6 (95%CI 1.2-2.1) and in those dependent vs independent at five-years' follow-up was 2.2 (1.6-3.0). DISCUSSION: We have demonstrated the concurrent validity, convergent validity, and predictive validity of a UPDRS-/MDS-UPDRS-based algorithm to define functional dependency in PD. This can be used for studying dependency in any study where UPDRS or MDS-UPDRS part 2 data have been collected. ; The PICC collaboration was funded by the Chief Scientist Office of the Scottish Government, NHS Education for Scotland, and the Academy of Medical Sciences. The CamPaIGN study has received funding from the Wellcome Trust, the Medical Research Council, the Patrick Berthoud Trust, Parkinson's UK, and the National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre Dementia and Neurodegeneration Theme (ref. 146281). The ICICLE-PD study was funded by Parkinson's UK (J-0802, G-1301, G-1507) and the, Lockhart Parkinson's Disease Research Fund. The research was supported by the NIHR Newcastle Biomedical Research Unit and Centre based at Newcastle upon Tyne Hospitals NHS Foundation Trust and Newcastle University, and the National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre Dementia and Neurodegeneration Theme (ref. 146281). The NYPUM study was funded by Swedish Medical Research Council, Parkinson Foundation in Sweden, the Swedish Parkinson Disease Association, University of Umeå, Foundation for Clinical Neuroscience at Umeå University Hospital, Västerbotten County Council (ALF) and King Gustaf V's and Queen Victoria's foundation The Norwegian ParkWest study was funded by the Western Norway Regional Health Authority (grant No 911218), the Research Council of Norway (grant No 177966 and 287842) and the Norwegian Parkinson Research Foundation. The PICNICS study was funded by the Cure Parkinson's Trust, the Van Geest Foundation, the MRC and Parkinson's UK, and the National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre Dementia and Neurodegeneration Theme (ref. 146281). The PINE study was funded by Parkinson's UK, the Scottish Chief Scientist Office, NHS Grampian endowments, the BMA Doris Hillier award, RS Macdonald Trust, the BUPA Foundation and SPRING. C H Williams-Gray holds a RCUK/UKRI Research Innovation Fellowship awarded by the Medical Research Council (MR/R007446/1) and receives support from the Cambridge Centre for Parkinson-Plus.