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      Treatment and long-term outcome in primary distal renal tubular acidosis

      1 , 2 , 3 , 2 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 23 , 35 , 22 , 36 , 37 , 38 , 39 , 40 , 41 , 41 , 42 , 43 , 44 , 44 , 45 , 46 , 47 , 28 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 2 , 2 , , , , , , , , , , , , , , , , , , , , , , , , , 1 , 2 , 38 , 1 , 2 , European dRTA Consortium
      Nephrology Dialysis Transplantation
      Oxford University Press (OUP)

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          Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome.

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          Most cited references39

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          Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

          The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants. 1 In the past decade, sequencing technology has evolved rapidly with the advent of high-throughput next generation sequencing. By adopting and leveraging next generation sequencing, clinical laboratories are now performing an ever increasing catalogue of genetic testing spanning genotyping, single genes, gene panels, exomes, genomes, transcriptomes and epigenetic assays for genetic disorders. By virtue of increased complexity, this paradigm shift in genetic testing has been accompanied by new challenges in sequence interpretation. In this context, the ACMG convened a workgroup in 2013 comprised of representatives from the ACMG, the Association for Molecular Pathology (AMP) and the College of American Pathologists (CAP) to revisit and revise the standards and guidelines for the interpretation of sequence variants. The group consisted of clinical laboratory directors and clinicians. This report represents expert opinion of the workgroup with input from ACMG, AMP and CAP stakeholders. These recommendations primarily apply to the breadth of genetic tests used in clinical laboratories including genotyping, single genes, panels, exomes and genomes. This report recommends the use of specific standard terminology: ‘pathogenic’, ‘likely pathogenic’, ‘uncertain significance’, ‘likely benign’, and ‘benign’ to describe variants identified in Mendelian disorders. Moreover, this recommendation describes a process for classification of variants into these five categories based on criteria using typical types of variant evidence (e.g. population data, computational data, functional data, segregation data, etc.). Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends that clinical molecular genetic testing should be performed in a CLIA-approved laboratory with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or equivalent.
            • Record: found
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            Is Open Access

            Development of a WHO growth reference for school-aged children and adolescents

            OBJECTIVE: To construct growth curves for school-aged children and adolescents that accord with the WHO Child Growth Standards for preschool children and the body mass index (BMI) cut-offs for adults. METHODS: Data from the 1977 National Center for Health Statistics (NCHS)/WHO growth reference (1-24 years) were merged with data from the under-fives growth standards' cross-sectional sample (18-71 months) to smooth the transition between the two samples. State-of-the-art statistical methods used to construct the WHO Child Growth Standards (0-5 years), i.e. the Box-Cox power exponential (BCPE) method with appropriate diagnostic tools for the selection of best models, were applied to this combined sample. FINDINGS: The merged data sets resulted in a smooth transition at 5 years for height-for-age, weight-for-age and BMI-for-age. For BMI-for-age across all centiles the magnitude of the difference between the two curves at age 5 years is mostly 0.0 kg/m² to 0.1 kg/m². At 19 years, the new BMI values at +1 standard deviation (SD) are 25.4 kg/m² for boys and 25.0 kg/m² for girls. These values are equivalent to the overweight cut-off for adults (> 25.0 kg/m²). Similarly, the +2 SD value (29.7 kg/m² for both sexes) compares closely with the cut-off for obesity (> 30.0 kg/m²). CONCLUSION: The new curves are closely aligned with the WHO Child Growth Standards at 5 years, and the recommended adult cut-offs for overweight and obesity at 19 years. They fill the gap in growth curves and provide an appropriate reference for the 5 to 19 years age group.
              • Record: found
              • Abstract: not found
              • Article: not found

              K/DOQI clinical practice guidelines for chronic kidney disease: evaluation, classification, and stratification.


                Author and article information

                (View ORCID Profile)
                Nephrology Dialysis Transplantation
                Oxford University Press (OUP)
                June 2019
                June 01 2019
                February 18 2019
                June 2019
                June 01 2019
                February 18 2019
                : 34
                : 6
                : 981-991
                [1 ]Department of Paediatric Nephrology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK
                [2 ]Centre for Nephrology, University College London, London, UK
                [3 ]Division of Nephrology, Bambino Gesù Children's Hospital—IRCCS, Rome, Italy
                [4 ]Pediatric Nephrology—CHU Arnaud de Villeneuve, Montpellier University Hospital, Montpellier, France
                [5 ]Ali-Asghar Clinical Research Development Center, Iran University of Medical Sciences, Tehran, Iran
                [6 ]Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland
                [7 ]Centre de référence Maladies rénales rares, Bron, France
                [8 ]ASST Niguarda, Milan, Italy
                [9 ]Department of Pediatrics, University Hospital of Cologne, Cologne, Germany
                [10 ]University Hospital Leuven, Leuven, Belgium
                [11 ]King Edward Memorial Hospital, Pune, India
                [12 ]Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt
                [13 ]Hospital Universitario Vall d'Hebron, Barcelona, Spain
                [14 ]Division of Pediatric Nephrology, NRS Medical College, Kolkata, India
                [15 ]Pediatric Nephrology, Dialysis and Transplant Unit, Azienda Ospedaliera & University of Padova, Padova, Italy
                [16 ]University Children's Hospital, Medical School, Skopje, Macedonia
                [17 ]National Medical and Research Centre for Children’s Health, Moscow, Russia
                [18 ]Centre Hospitalier Universitaire de Toulouse, Service de Nephrologie Pediatrique, Hopital des Enfants, Centre De Reference des Maladies Rénales Rares du Sud Ouest, Toulouse, France
                [19 ]Hospital Universitario Central de Asturias, Oviedo, Spain
                [20 ]Radboud University Medical Centre, Nijmegen, The Netherlands
                [21 ]Nephrology and Dialysis Unit, Department of Woman, Child and Urological Diseases, Azienda Ospedaliero—Universitaria Sant’Orsola-Malpighi, Bologna, Italy
                [22 ]Charité Universitätsmedizin Berlin, Berlin, Germany
                [23 ]University Children’s Hospital, Münster, Germany
                [24 ]Wilhelmina Children’s Hospital, University Medical Center, Utrecht, The Netherlands
                [25 ]Centro Hospitalar de Lisboa Central, Lisbon, Portugal
                [26 ]Fourth Pediatric Department, Aristotle University, Thessaloniki, Greece
                [27 ]Lady Cilento Children’s Hospital, Brisbane, Australia
                [28 ]School of Medicine, the University of Queensland, Brisbane, Australia
                [29 ]Department of Pediatric Nephrology, Pamukkale University School of Medicine, Denizli, Turkey
                [30 ]Nephrology Unit Azienda Ospedaliera, Papa Giovani XXIII, Bergamo, Italy
                [31 ]Karolinska Institutet, Lund University, Sweden
                [32 ]Group Florence Nightingale Hospitals, İstanbul, Turkey
                [33 ]Fondazione Policlinico A. Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy
                [34 ]Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia
                [35 ]Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda—Ospedale Maggiore Policlinico, Milan, Italy
                [36 ]Department of Translational Medical Sciences, University of Campania “L. Vanvitelli”, Naples, Italy
                [37 ]Pediatric Department, Lillebaelt Hospital Kolding, Kolding, Denmark
                [38 ]Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University Hospital of Heidelberg, Heidelberg, Germany
                [39 ]Haseki Education and Research Hospital, Istanbul, Turkey
                [40 ]Belarusian State Medical University, Minsk, Belarus
                [41 ]Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France
                [42 ]Pediatric Nephrology Unit, AOU Policlinic G Martino, Messina, Italy
                [43 ]Necker Hospital, Paris, France
                [44 ]Faculty of Medicine, Department of Pediatric Nephrology, Erciyes University, Kayseri, Turkey
                [45 ]Cukurova University, Adana, Turkey
                [46 ]Nephrology Centre, Santaros Klinikos, Vilnius University, Vilnius, Lithuania
                [47 ]University Hospital of Lille, France
                [48 ]Department of Renal Medicine, Royal Brisbane and Women's Hospital, Brisbane, Australia
                [49 ]University Hospital Centre Zagreb, Zagreb, Croatia
                [50 ]Department of Pediatrics, SMDZ in Zabrze, SUM in Katowice, Poland
                [51 ]Department of Pediatric Nephrology, Hannover Medical School, Hannover, Germany
                [52 ]Department of Pediatrics, Seoul University Children’s Hospital, Seoul, Korea
                [53 ]Institute of Child Health, Kolkata, India
                [54 ]Medical School, University Children’s Hospital, Skopje, Macedonia
                © 2019




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