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      The complete European guidelines on phenylketonuria: diagnosis and treatment

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          Abstract

          Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. PKU management differs widely across Europe and therefore these guidelines have been developed aiming to optimize and standardize PKU care. Professionals from 10 different European countries developed the guidelines according to the AGREE (Appraisal of Guidelines for Research and Evaluation) method. Literature search, critical appraisal and evidence grading were conducted according to the SIGN (Scottish Intercollegiate Guidelines Network) method. The Delphi-method was used when there was no or little evidence available. External consultants reviewed the guidelines. Using these methods 70 statements were formulated based on the highest quality evidence available. The level of evidence of most recommendations is C or D. Although study designs and patient numbers are sub-optimal, many statements are convincing, important and relevant. In addition, knowledge gaps are identified which require further research in order to direct better care for the future.

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          European guidance for the diagnosis and management of osteoporosis in postmenopausal women

          Summary Guidance is provided in a European setting on the assessment and treatment of postmenopausal women at risk of fractures due to osteoporosis. Introduction The International Osteoporosis Foundation and European Society for Clinical and Economic Aspects of Osteoporosis and Osteoarthritis published guidance for the diagnosis and management of osteoporosis in 2008. This manuscript updates these in a European setting. Methods Systematic literature reviews. Results The following areas are reviewed: the role of bone mineral density measurement for the diagnosis of osteoporosis and assessment of fracture risk, general and pharmacological management of osteoporosis, monitoring of treatment, assessment of fracture risk, case finding strategies, investigation of patients and health economics of treatment. Conclusions A platform is provided on which specific guidelines can be developed for national use.
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            Effectiveness of self-management training in type 2 diabetes: a systematic review of randomized controlled trials.

            To systematically review the effectiveness of self-management training in type 2 diabetes. MEDLINE, Educational Resources Information Center (ERIC), and Nursing and Allied Health databases were searched for English-language articles published between 1980 and 1999. Studies were original articles reporting the results of randomized controlled trials of the effectiveness of self-management training in people with type 2 diabetes. Relevant data on study design, population demographics, interventions, outcomes, methodological quality, and external validity were tabulated. Interventions were categorized based on educational focus (information, lifestyle behaviors, mechanical skills, and coping skills), and outcomes were classified as knowledge, attitudes, and self-care skills; lifestyle behaviors, psychological outcomes, and quality of life; glycemic control; cardiovascular disease risk factors; and economic measures and health service utilization. A total of 72 studies described in 84 articles were identified for this review. Positive effects of self-management training on knowledge, frequency and accuracy of self-monitoring of blood glucose, self-reported dietary habits, and glycemic control were demonstrated in studies with short follow-up (<6 months). Effects of interventions on lipids, physical activity, weight, and blood pressure were variable. With longer follow-up, interventions that used regular reinforcement throughout follow-up were sometimes effective in improving glycemic control. Educational interventions that involved patient collaboration may be more effective than didactic interventions in improving glycemic control, weight, and lipid profiles. No studies demonstrated the effectiveness of self-management training on cardiovascular disease-related events or mortality; no economic analyses included indirect costs; few studies examined health-care utilization. Performance, selection, attrition, and detection bias were common in studies reviewed, and external generalizability was often limited. Evidence supports the effectiveness of self-management training in type 2 diabetes, particularly in the short term. Further research is needed to assess the effectiveness of self-management interventions on sustained glycemic control, cardiovascular disease risk factors, and ultimately, microvascular and cardiovascular disease and quality of life.
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              Effectiveness of Self-Management Training in Type 2 Diabetes: A systematic review of randomized controlled trials

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                Author and article information

                Contributors
                a.m.j.van.wegberg@umcg.nl
                macdonj@btinternet.com
                kirstenahring@hotmail.com
                belanger.uem@gmail.com
                Nenad.Blau@med.uni-heidelberg.de
                a.m.bosch@amc.uva.nl
                alberto.burlina@unipd.it
                campistol@sjdhospitalbarcelona.org
                f.feillet@chu-nancy.fr
                maria.gizewska@gmail.com
                SHuijbregts@fsw.leidenuniv.nl
                Shauna.Kearney@bch.nhs.uk
                vincenzo.leuzzi@uniroma1.it
                francois.maillot@univ-tours.fr
                muntau@uke.de
                m.van.rijn@umcg.nl
                friedrich.trefz@gmx.de
                John.Walter@cmft.nhs.uk
                f.j.van.spronsen@umcg.nl
                Journal
                Orphanet J Rare Dis
                Orphanet J Rare Dis
                Orphanet Journal of Rare Diseases
                BioMed Central (London )
                1750-1172
                12 October 2017
                12 October 2017
                2017
                : 12
                Affiliations
                [1 ]ISNI 0000 0000 9558 4598, GRID grid.4494.d, Division of Metabolic Diseases, Beatrix Children’s Hospital, , University Medical Center Groningen, ; PO BOX 30.001, 9700 RB Groningen, The Netherlands
                [2 ]ISNI 0000 0004 0399 7272, GRID grid.415246.0, Dietetic Department, , Birmingham Children’s Hospital, ; Birmingham, UK
                [3 ]Department of PKU, Kennedy Centre, Glostrup, Denmark
                [4 ]ISNI 0000 0000 9248 5770, GRID grid.411347.4, Metabolic Diseases Unit, Department of Paediatrics, , Hospital Ramon y Cajal Madrid, ; Madrid, Spain
                [5 ]ISNI 0000 0001 0328 4908, GRID grid.5253.1, University Children’s Hospital, Dietmar-Hoppe Metabolic Centre, ; Heidelberg, Germany
                [6 ]ISNI 0000 0001 0726 4330, GRID grid.412341.1, University Children’s Hospital Zürich, ; Zürich, Switzerland
                [7 ]Department of Paediatrics, Division of Metabolic Disorders, Academic Medical Centre, University Hospital of Amsterdam, Amsterdam, The Netherlands
                [8 ]ISNI 0000 0004 1760 2630, GRID grid.411474.3, Division of Inherited Metabolic Diseases, Department of Paediatrics, , University Hospital of Padova, ; Padova, Italy
                [9 ]ISNI 0000 0004 1937 0247, GRID grid.5841.8, Neuropaediatrics Department, Hospital Sant Joan de Déu, , Universitat de Barcelona, ; Barcelona, Spain
                [10 ]Department of Paediatrics, Hôpital d’Enfants Brabois, CHU Nancy, Vandoeuvre les Nancy, France
                [11 ]ISNI 0000 0001 1411 4349, GRID grid.107950.a, Department of Paediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, , Pomeranian Medical University, ; Szczecin, Poland
                [12 ]ISNI 0000 0001 2312 1970, GRID grid.5132.5, Department of Clinical Child and Adolescent Studies-Neurodevelopmental Disorders, Faculty of Social Sciences, , Leiden University, ; Leiden, The Netherlands
                [13 ]ISNI 0000 0004 0399 7272, GRID grid.415246.0, Clinical Psychology Department, , Birmingham Children’s Hospital, ; Birmingham, UK
                [14 ]GRID grid.7841.a, Department of Paediatrics, Child Neurology and Psychiatry, , Sapienza University of Rome, ; Via dei Sabelli 108, 00185 Rome, Italy
                [15 ]CHRU de Tours, Université François Rabelais, INSERM U1069, Tours, France
                [16 ]ISNI 0000 0001 2180 3484, GRID grid.13648.38, University Children’s Hospital, University Medical Centre Hamburg-Eppendorf, ; 20246 Hamburg, Germany
                [17 ]ISNI 0000 0001 2190 4373, GRID grid.7700.0, Department of Paediatrics, , University of Heidelberg, ; Heidelberg, Germany
                [18 ]ISNI 0000 0004 0430 9101, GRID grid.411037.0, Medicine, Manchester Academic Health Sciences Centre, , Central Manchester University Hospitals NHS Foundation Trust, ; Manchester, UK
                Article
                685
                10.1186/s13023-017-0685-2
                5639803
                29025426
                © The Author(s). 2017

                Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                Funding
                Funded by: European Society of Phenylketonuria and Allied Disorders
                Categories
                Review
                Custom metadata
                © The Author(s) 2017

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