Phenylketonuria (PKU) is an autosomal recessive inherited disorder characterised by a deficiency in phenylalanine hydroxylase. Untreated, PKU is associated with a wide range of cognitive and ...psychiatric sequelae. Contemporary management guidelines recommend lifetime dietary control of phenylalanine (Phe) levels, however many individuals who discontinue dietary control subsequently suffer symptoms of anxiety, depression and disturbances to cognition. We undertook a prospective cohort study of patients with early-treated phenylketonuria who had ceased dietary control to test the hypothesis that resumption of dietary control of PKU is associated with improvements in measures of psychiatric morbidity and cognitive functioning.
We re-initiated dietary control for early-treated patients with PKU and monitored cognitive and psychiatric outcomes over a twelve-month period. Assessments included objective cognitive function (measured by cognitive proficiency index (CPI)), anxiety and depression scales. General linear mixed model (GLMM) analyses were performed to assess change in psychometric variables from baseline over twelve months after resumption of dietary control.
A total of nine patients were recruited. Mean age was 33 years (SD = 8.75), five were female. Mean time off dietary control was 19.1 years (SD = 11.3), and mean baseline phenylalanine (Phe) levels were 1108 µmol/L (SD = 293). GLMM analysis demonstrated a positive relationship between CPI and time on diet (b = 0.56 95% CI = 0.17, 0.95). Age, time off diet, Phe levels and depression scores were not associated with cognitive function. There was a negative relationship between time on diet and anxiety (b = - 0.88 95% CI = - 1.26, - 0.50) and depression ratings (b = - 0.61, 95% CI = - 0.95, - 0.26).
This study demonstrated improvements in cognitive function, anxiety, and depression ratings associated with resumption of dietary control of PKU. Raw Phe levels were not strongly associated with psychiatric or cognitive scores in this cohort. These findings support the importance of lifelong treatment for PKU in improving the cognitive and psychiatric sequelae of the disease.
Book Reviews Reiss, Michael; Twiner, Adrian; Barker, John A. ...
Journal of Biological Education,
12/1/1992, Letnik:
26, Številka:
4
Book Review
Recenzirano
Life: the science of biology 3rd edn. W. K. Purves, G. H. Orians, and H. Croig Heller. 1145 pp. Sunderland, Massachusetts, USA: Sinauer Associates and Oxford: W. H. Freeman, 1992. £22.95. ISBN 0 7167 ...2276 3 Reviewed by Michael Reiss
Work out human biology GCSE: revise with the examiners 2nd edn. P.. Soper. 267pp. Basingstoke, Hampshire: Macmillan, 1992. £5.99. ISBN 0 333 56862 1 Reviewed by Adrian Twiner
Science in the classroom M. Barker. 115 pp. New Zealand: Waikato Education Centre, c/o University of Waikato, Private Bag 3042, 1991. $NZ 16.00 Reviewed by John A. Barker
Balanced science 2 C. Jones, M. Jones, P. Marchington, and D. Acaster. 630 pp. Cambridge: Cambridge University Press, 1991. £10.50. ISBN 0 521 35690 3 Reviewed by Susan Ashby
SATIS atlas 14-19 T. Kempton. Hatfield, Herts.: The Association for Science Education, 1992. £18.00. ISBN 0 86357 161 1 Reviewed by Dave Dennis
Science & Technology in society (SATIS) 16-19: units 76-100 A. Hunt. Hatfield, Hertfordshire: Association for Science Education, 1992. £19.00 (less 10% members) plus £2.00 p & p. ISBN 0 68357 163 8 Reviewed by John A. Barker
SATIS 16-19 ; What is science? J. Solomon. 45 pp. Hatfield, Herts: The Association for Science Education, 1992. £4.80. ISBN 0 86357 158 1 Reviewed by A. M. Lucas
Complete Coordinated Science: biology S. Cooper, W. Deloughry, M. Hiscock, and P. Naylor. 126 pp. Oxford: Heinemann Educational, 1992. £6.50. ISBN 0 435 57542 2 Reviewed by Rasik Bhadresa
New Horizons pack: science 5-16: Copymaster resource pack (Year 7); Teacher's book (Year 7); Pupils' book (Year 7); Key stage 3 inspection booklet; Copymaster pack A (Years 1 and 2); Teacher's file (Years 1 and 2, A); Storybooks Pack A (Years 1 and 2); Reception games pack; Reception workbook pack; Reception teacher's file; Inspection booklet (Key Stage 1) Cambridge: Cambridge University Press and West Sussex Science Education Development Unit, 1991. £27.50/£9.95/£4.75/£4.75/£ 19.95/£27.50/£12.50/£35.95/£2.25/£25.00/£4.75. ISBNs 0 521 39628 X/39602 6/39622 0/39990 4/39616 6/39795 2/40712 5/39636 0/39621 2/39794 4/39991 2 Reviewed by Chris Belcher
The National Curriculum: making it work at key stage 2 B. Bagnell et al. 68 pp. Derby: Primary Associations, 1992. £6.95. ISBN 0 86357 170 0 Reviewed by Pamela Wadsworth
Evolutionary developmental biology B. K. Hall. 275 pp. London: Chapman and Hall, 1992. £29.95. ISBN 0 412 27550 3 Reviewed by Jack Cohen
Focus on biology: genetics and evolution M. Carter. 159 pp. Sevenoaks, Kent: Hodder and Stoughton, 1992. £9.50. ISBN 0 340 53266 1 Reviewed by Jack Cohen
Biotechnology by Open Learning (BIOTOL): the molecular fabric of cells Ed. C. K. Leach. 289 pp. Oxford: Butterworth-Heinemann, 1991 (on behalf of Open Universiteit, Nederland and Thames Polytechnic). £19.95. ISBN 07506 1499 4 Reviewed by Jenny Henderson
Molecular and cell biochemistry: biosynthesis C A. Smith and E. J. Wood. 226 pp. London: Chapman and Hall, 1992. £12.95. ISBN 0 412 40760 4 Reviewed by M. J. Connock
Ecology: principles and applications J. L. Chapman and M. J. Reiss. 294 pp. Cambridge: Cambridge University Press, 1992. £15.95. ISBN 0 521 38951 8 Reviewed by David Slingsby
The environment explained: the seashore, trees, ponds, gardens P.Minett. 19/19/19/17 pp. Great Yarmouth, Norfolk: Stokesby House Publications, 1992. £2.50 each. ISBNs 0 9514490 3 6/5 2/2 8/1 X Reviewed by Mark Wilson
Biology in focus: biological conservation I. F. Spellerberg and S. R. Hordes. Series ed. P. Kelly. 122 pp. Cambridge: Cambridge University Press, 1992. £6.95/$14.95. ISBN 0 521 39786 3 Reviewed by Sarah McKenzie
Recycling: a practical guide for the school environment J. Feltwell. 26 pp. Winchester, Hants.: Learning Through Landscapes Trust, 1992. £4.00. ISBN 1 872 865 046 Reviewed by Anne Heaton
Good earth-keeping: education, training and awareness for a sustainable future 5. Sterling and the EDET group. 38 pp. London: UNEP-UK, 1992. £5.00. ISBN 0 905347 83 8 Reviewed by Monica Hale
Our Fragile Planet: endangered habitats J. Tesar. 112 pp. Oxford: Facts on File, 1992. £ 10.95. ISBN 0 8160 2493 6 Reviewed by John Crothers
Health and the environment F. Godlee and A. Walker. 126 pp. London: British Medical Journal, 1992. £7.95. ISBN 0 7279 0318 7 Reviewed by Michael Reiss
Diversity and the tropical rain forest J. Terborgh. 256 pp. Oxford: W. H. Freeman and Co., 1992. £17.95. ISBN 07167 5030 9 Reviewed by David Harding
Tropical rainforest: a world survey of our most valuable and endangered habitat with a blueprint for its survival A. Newman. 256 pp. Oxford: Facts on File, 1990. £ 19.95. ISBN 0 8160 1944 Reviewed by Anne Heaton
Teaching and learning about the environment Three packs of teaching materials edited by Bob Campbell, Sylvia Hogarth, and Robin Millar (University of York Science Education Group). Published by the Association for Science Education. Available from ASE Booksales, ASE, College Lane, Hatfield, Herts. AL10 9AA. (Tel. 0707-267411; fax. 0707-266532.) Price £7.50 per pack Reviewed by David Slingsby
Techniques in ecology and environmental science Set A: terrestrial organisms and habitats A 61-page spiral bound A4 booklet written by Julian Doberski and lain Brodie. Published by and available from Daniels Publishing, Barton, Cambridge CB3 7BB. (Tel. 0223-264880; fax. 0223-264888.) Price £24.95 inc. p & p. ISBN 1 85467 080 8 Reviewed by Brian Moss
Techniques in ecology and environmental science Set B: aquatic organisms and habitats, data collection and analysis A 62-page spiral bound A4 booklet written by lain Brodie and Julian Doberski. Published by and available from Daniels Publishing, Barton, Cambridge CB3 7BB. (Tel. 0223-264880; fax. 0223-264888.) Price £24.95 inc. p & p. ISBN 1 85467 081 6 Reviewed by M. L. Gorman
Science investigations Set 1 : life and living processes A 45-page A4 loose-leaf pack written by Ian Pritchard. Published by and available from Pearson Publishing, Chesterton Mill, French's Road, Cambridge CB4 3NP. (Tel. 0223-350555, fax. 0223-356484.) Price £18.00 inc. p & p. ISBN 1 85749 00 9 6 Reviewed by Julie Malpas
Biological and medical illustrations: source packs A and B Two spiral-bound A4 booklets edited by Ian Harvey. Published by and available from Daniels Publishing, 38 Cambridge Place, Cambridge CB2 INS. (Tel. 0223-467144; fax. 0223-467145.) Price £28.00 each inc. p & p. ISBN: source pack A, 1 85467 157 X; source pack B, 1 85467 158 8 Reviewed by George Fussey
It's your world-don't waste it! Twenty 35 mm plastic mounted slides supplied in a plastic wallet, 9 colour photocards (210 mm x 150 mm), work sheets and teacher's notes. Produced by and available from the International Centre for Conservation Education, Greenfield House, Guiting Power, Cheltenham, Gloucestershire GL54 5TZ. (Tel. 0451-850777; fax. 0451-850705.) Price £19.92 (inc. VAT and p & p) Reviewed by Richard Fosbery
British wildlife in danger Forty 35 mm plastic mounted slides supplied in a plastic wallet, 24 A5-size illustrated work cards and teacher's notes. Produced by and available from the International Centre for Conservation Education, Greenfield House, Guiting Power, Cheltenham, Gloucestershire GL54 5TZ. (Tel. 0451-850777; fax. 0451-850705.) Price £19.92 (inc VAT. and p & p) Reviewed by Sarah McKenzie
Wildflowers: an identification package A computer identification package using KEY/KEY PLUS datafile devised by Brian Nixon. Available from Mercury Educational Products, 8-10 Lower James Street, London W1R 3PL (Tel. 071-287 5060; fax. 071-287 0861.) Prices: Wildflowers identikit & KEY datafile (BBC B & Master) £20.68; Wildflowers KEY datafile (RM Nimbus) £11.25; Wildflowers KEY/KEY PLUS datafile (Archimedes) £11.25. All prices include VAT; p & p £1.50 Reviewed by Malcolm Ingram
Freedom database: food technology module A PC computer database, produced by A VPf Somerset Education Centre and TVEI. Available from AVP, School Hill Centre, Chepstow, Gwent NP6 5PH. (Tel. 0291-625439; fax. 0291-279671.) Price £50.00. (Archimedes and A3000, RM Nimbus single user, IBM PC and compatibles.) Price exclusive of VAT, p & p included on prepaid orders Reviewed by Malcolm Ingram
Background:
The MSBase prediction model of treatment response leverages multiple demographic and clinical characteristics to estimate hazards of relapses, confirmed disability accumulation (CDA), and ...confirmed disability improvement (CDI). The model did not include Multiple Sclerosis Severity Score (MSSS), a disease duration-adjusted ranked score of disability.
Objective:
To incorporate MSSS into the MSBase prediction model and compare model accuracy with and without MSSS.
Methods:
The associations between MSSS and relapse, CDA, and CDI were evaluated with marginal proportional hazards models adjusted for three principal components representative of patients’ demographic and clinical characteristics. The model fit with and without MSSS was assessed with penalized r2 and Harrell C.
Results:
A total of 5866 MS patients were started on disease-modifying therapy during prospective follow-up (age 38.4 ± 10.6 years; 72% female; disease duration 8.5 ± 7.7 years). Including MSSS into the model improved the accuracy of individual prediction of relapses by 31%, of CDA by 23%, and of CDI by 24% (Harrell C) and increased the amount of variance explained for relapses by 49%, for CDI by 11%, and for CDA by 10% as compared with the original model.
Conclusion:
Addition of a single, readily available metric, MSSS, to the comprehensive MSBase prediction model considerably improved the individual accuracy of prognostics in MS.
Aim:
To explore kaumātua attitudes towards physician aid-in dying, to gain a clear understanding of how such attitudes may influence and shape their expectations of medical care at the end of life ...and to assist health professionals in Aotearoa/New Zealand to address the healthcare needs of older Māori near the end of life.
Design:
A kaupapa Māori consistent approach was undertaken. A systematic narrative technique was employed for the qualitative data analysis. Data were triangulated through independent data coding by three researchers (two of whom identified as Māori researchers), to ensure a robust and consistent method of analysis as well as adhering to a kaupapa Māori research approach.
Setting/participants:
Recruitment of participants was through kaumātua of Te Kupenga Hauora Māori (Māori leadership within the Faculty of Medical and Health Sciences), University of Auckland and local Auckland marae. Focus group or individual interviews (as per their preference) were undertaken with 20 Kaumātua from the Auckland region.
Results:
Five closely interrelated themes were identified from kaumātua narratives regarding physician aid-in dying. These were (1) attitudes and understandings of physician aid-in dying, (2) influence of power, (3) significance of kawa, (4) whānau relationships and the (5) significance of wairua.
Conclusion:
The study demonstrated that for these kaumātua, medical practices that hasten death such as physician aid-in dying are ‘not all just about the dying’. Tikanga and kawa are important processes and concepts to understand during death and dying, and whānau are central to such processes being respected by those involved in the dying process. These factors are so closely intertwined that they cannot be considered in separation of each other.
Background:
A delayed onset of treatment effect, termed therapeutic lag, may influence the assessment of treatment response in some patient subgroups.
Objectives:
The objective of this study is to ...explore the associations of patient and disease characteristics with therapeutic lag on relapses and disability accumulation.
Methods:
Data from MSBase, a multinational multiple sclerosis (MS) registry, and OFSEP, the French MS registry, were used. Patients diagnosed with MS, minimum 1 year of exposure to MS treatment and 3 years of pre-treatment follow-up, were included in the analysis. Studied outcomes were incidence of relapses and disability accumulation. Therapeutic lag was calculated using an objective, validated method in subgroups stratified by patient and disease characteristics. Therapeutic lag under specific circumstances was then estimated in subgroups defined by combinations of clinical and demographic determinants.
Results:
High baseline disability scores, annualised relapse rate (ARR) ⩾ 1 and male sex were associated with longer therapeutic lag on disability progression in sufficiently populated groups: females with expanded disability status scale (EDSS) < 6 and ARR < 1 had mean lag of 26.6 weeks (95% CI = 18.2–34.9), males with EDSS < 6 and ARR < 1 31.0 weeks (95% CI = 25.3–36.8), females with EDSS < 6 and ARR ⩾ 1 44.8 weeks (95% CI = 24.5–65.1), and females with EDSS ⩾ 6 and ARR < 1 54.3 weeks (95% CI = 47.2–61.5).
Conclusions:
Pre-treatment EDSS and ARR are the most important determinants of therapeutic lag.
Background: Comparisons between cladribine and other potent immunotherapies for multiple sclerosis (MS) are lacking. Objectives: To compare the effectiveness of cladribine against fingolimod, ...natalizumab, ocrelizumab and alemtuzumab in relapsing-remitting MS. Methods: Patients with relapsing-remitting MS treated with cladribine, fingolimod, natalizumab, ocrelizumab or alemtuzumab were identified in the global MSBase cohort and two additional UK centres. Patients were followed for ⩾6/12 and had ⩾3 in-person disability assessments. Patients were matched using propensity score. Four pairwise analyses compared annualised relapse rates (ARRs) and disability outcomes. Results: The eligible cohorts consisted of 853 (fingolimod), 464 (natalizumab), 1131 (ocrelizumab), 123 (alemtuzumab) or 493 (cladribine) patients. Cladribine was associated with a lower ARR than fingolimod (0.07 vs. 0.12, p = 0.006) and a higher ARR than natalizumab (0.10 vs. 0.06, p = 0.03), ocrelizumab (0.09 vs. 0.05, p = 0.008) and alemtuzumab (0.17 vs. 0.04, p < 0.001). Compared to cladribine, the risk of disability worsening did not differ in patients treated with fingolimod (hazard ratio (HR) 1.08, 95% confidence interval (CI) 0.47–2.47) or alemtuzumab (HR 0.73, 95% CI 0.26–2.07), but was lower for patients treated with natalizumab (HR 0.35, 95% CI 0.13–0.94) and ocrelizumab (HR 0.45, 95% CI 0.26–0.78). There was no evidence for a difference in disability improvement. Conclusion: Cladribine is an effective therapy that can be viewed as a step up in effectiveness from fingolimod, but is less effective than the most potent intravenous MS therapies.
This paper critically explores the research approach undertaken by Māori and tauiwi researchers working alongside kaumātua within the context of physician-assisted dying. We critically explore the ...collaborative process we undertook in framing the research context and discuss the rewards and challenges that emerged.
The research this critical discussion draws on undertook a qualitative Kaupapa Māori consistent research approach and drew on the principles of an Interface Research approach. The paper focuses on the collaborative approach taken between the 10 researchers involved in the study.
Challenges identified within the collaborative Kaupapa Māori consistent research process included: determining appropriate authority and representation of researchers and participants; maintaining clear communication; time and logistical management. The key strengths that emerged from this research design were: establishing a culturally safe and robust research process; an ability to build and maintain relationships between researchers and participants; and the opportunity to develop academic research skills between researchers and participants.
Collaborative Kaupapa Māori consistent research approaches to research can enable accountability, control and representation throughout the entire research process. Given the rich research results achieved and personal rewards gained from this study design, we would advocate for the application of such approaches within health research contexts.
PDF
