40 research outputs found
Resensies
Book Review 1Book Title: Skollie: One manâs struggle to survive by telling storiesBook Author: John W. FredericksCape Town: Penguin Random House. 251 pp. ISBN: 978-1-77609-199-7.Book Review 2Book Title: A Gap in the HedgeBook Author: Johan Vlok LouwCape Town: Umuzi, 2017. 233 pp. ISBN: 978-1-4152-08915Book Review 3Book Title: Iziganeko zesizwe: Occasional Poems (1900â1943)Book Authors: S.E.K. Mqhayi. Eds. and trans. Jeff Opland and Peter T. MtuzePietermaritzburg: University of KwaZulu Natal Press, 2017. 469 pp. ISBN: 9781869143343; e-ISBN: 9781869143350.Book Review 4Book Title: Oorlog en terpentynBook Authors: Stefan Hertmans. Vertaal deur Daniel HugoPretoria: Protea Boekhuis, 2016. 335 pp. ISBN: 978-1-4853-0610-8; e-Boek: 978-1-4853-0722-8; Epub: 978-1-4853-0723-5.Book Review 5Book Title: Groen soos die hemel daarboBook Author: Eben VenterKaapstad: Tafelberg, 212 pp. ISBN: 978-0-624-08261-3.Book Review 6Book Title: Die wĂȘreld van Charlie OengBook Author: Etienne van HeerdenKaapstad: Tafelberg, 2017. 559 pp. ISBN 978-0-624-08052-7.Book Review 7Book Title: Die diepblou seeBook Author: François LootsKaapstad: Umuzi, 2017. 239 pp. ISBN: 978-1-4152-0953-0.Book Review 8Book Title: Die derde spoelBook Author: S.J. NaudĂ©Kaapstad: Umuzi, 2017. 342 pp. ISBN: 978-1-4152-0747-5 (Druk). ISBN: 978-1-4152-0748-2 (ePub).Book Review 9Book Title: Nou, hierBook Author: CornĂ© CoetzeeKaapstad: Human & Rousseau, 2017. 107 pp. ISBN 978-0-7981-7620-0.Book Review 10Book Title: RadbraakBook Author: Jolyn PhillipsKaapstad: Human & Rousseau, 2017. 68 pp. ISBN: 978-0-7981-7616-3.Book Review 11Book Title: VuurvasBook Author: Carel AntonissenNaledi, 2016. ISBN 978-0-928316-97-1.Book Review 12Book Title: Voor ek my kom kryBook Author: Pirow BekkerPretoria: Protea Boekhuis, 2017. 110 pp. ISBN: 978-1-4853-0648-1.Book Review 13Book Title: Nuwe stemme 6Book Authors: Bibi Slippers en Charl-Pierre NaudĂ© (samenstellers)Kaapstad: Tafelberg, 2017. 176 pp. ISBN 9780624082644.Book Review 14Book Title: UittogboekBook Author: Johan MyburgPretoria: Protea, 2017. 100 pp. ISBN: 9781485307761.Book Review 15Book Title: Krap uit die seeBook Author: Fourie BothaPretoria: Protea Boekehuis, 2017. 64 pp. ISBN 9781485307570.Book Review 16Book Title: Skepelinge. Aanloop tot ân romanBook Author: Karel SchoemanKaapstad: Human & Rousseau, 2017. 576 pp. ISBN: 978079817610.Book Review 17Book Title: Die reis gaan inwaarts: Die kuns van sterwe in kreatiewe werke van Karel SchoemanBook Author: Cas WepenerStellenbosch: Sun MeDIA MeTRO. Druknaam: SUN PRESS, 2017. 233 pp. ISBN: 978-1-928355-14-4 (Druk); ISBN: 979-1-928355-15-1 (e-boek)
Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia
Purpose
To study the current practice for assessing comorbidity in adults with 21-hydroxylase CAH and to assess the prevalence of comorbidity in these adults.
Methods
A structured questionnaire was sent to 46 expert centres managing adults with CAH. Information collected included current therapy and surveillance practice with a particular focus on osteoporosis/osteopaenia, hyperlipidaemia, type 2 diabetes/hyperinsulinaemia, hypertension, CV disease, obesity.
Results
Of the 31 (67%) centres from 15 countries that completed the survey, 30 (97%) screened for hypertension by measuring blood pressure, 30 (97%) screened for obesity, 26 (84%) screened for abnormal glucose homoeostasis mainly by using Hb1Ac (73%), 25 (81%) screened for osteoporosis mainly by DXA (92%), 20 (65%) screened for hyperlipidaemia and 6 (19%) screened for additional CV disease. Of the 31 centres, 13 provided further information on the six co-morbidities in 244 patients with a median age of 33âyrs (range 19, 94). Of these, 126 (52%) were females and 174 (71%) received fludrocortisone in addition to glucocorticoids. Of the 244 adults, 73 (30%) were treated for at least one comorbidity and 15 (21%) for more than 2 co-morbidities. Of 73, the patients who were treated for osteoporosis/osteopaenia, hyperlipidaemia, type 2 diabetes/hyperinsulinaemia, hypertension, CV disease, obesity were 43 (59%), 17 (23%), 16 (22%), 10 (14%), 8 (11), 3 (4%) respectively.
Conclusion
Cardiometabolic and bone morbidities are not uncommon in adults with CAH. There is a need to standardise the screening for these morbidities from early adulthood and to explore optimal therapy through routine collection of standardised data
The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency : a case series
Context
17α-Hydroxylase/17,20-lyase deficiency (17OHD) caused by mutations in the CYP17A1 gene is a rare form of congenital adrenal hyperplasia typically characterised by cortisol deficiency, mineralocorticoid excess and sex steroid deficiency.
Objective
To examine the phenotypic spectrum of 17OHD by clinical and biochemical assessment and corresponding in silico and in vitro functional analysis.
Design
Case series.
Patients and results
We assessed eight patients with 17OHD, including four with extreme 17OHD phenotypes: two siblings presented with failure to thrive in early infancy and two with isolated sex steroid deficiency and normal cortisol reserve. Diagnosis was established by mass spectrometry-based urinary steroid profiling and confirmed by genetic CYP17A1 analysis, revealing homozygous and compound heterozygous sequence variants. We found novel (p.Gly111Val, p.Ala398Glu, p.Ile371Thr) and previously described sequence variants (p.Pro409Leu, p.Arg347His, p.Gly436Arg, p.Phe53/54del, p.Tyr60IlefsLys88X). In vitro functional studies employing an overexpression system in HEK293 cells showed that 17,20-lyase activity was invariably decreased while mutant 17α-hydroxylase activity retained up to 14% of WT activity in the two patients with intact cortisol reserve. A ratio of urinary corticosterone over cortisol metabolites reflective of 17α-hydroxylase activity correlated well with clinical phenotype severity.
Conclusion
Our findings illustrate the broad phenotypic spectrum of 17OHD. Isolated sex steroid deficiency with normal stimulated cortisol has not been reported before. Attenuation of 17α-hydroxylase activity is readily detected by urinary steroid profiling and predicts phenotype severity
Clinical, quality of life, and economic value of acromegaly disease control
Although acromegaly is a rare disease, the clinical, economic and health-related quality of life (HRQoL) burden is considerable due to the broad spectrum of comorbidities as well as the need for lifelong management. We performed a comprehensive literature review of the past 12Â years (1998â2010) to determine the benefit of disease control (defined as a growth hormone [GH] concentration <2.5Â ÎŒg/l and insulin-like growth factor [IGF]-1 normal for age) on clinical, HRQoL, and economic outcomes. Increased GH and IGF-1 levels and low frequency of somatostatin analogue use directly predicted increased mortality risk. Clinical outcome measures that may improve with disease control include joint articular cartilage thickness, vertebral fractures, left ventricular function, exercise capacity and endurance, lipid profile, and obstructive apnea events. Some evidence suggests an association between controlled disease and improved HRQoL. Total direct treatment costs were higher for patients with uncontrolled compared to controlled disease. Costs incurred for management of comorbidities, and indirect cost could further add to treatment costs. Optimizing disease control in patients with acromegaly appears to improve outcomes. Future studies need to evaluate clinical outcomes, as well as HRQoL and comprehensive economic outcomes achieved with controlled disease
Standards of Care for the Health of Transgender and Gender Diverse People, Version 8
Background: Transgender healthcare is a rapidly evolving interdisciplinary field. In the last decade, there has been an unprecedented increase in the number and visibility of transgender and gender diverse (TGD) people seeking support and gender-affirming medical treatment in parallel with a significant rise in the scientific literature in this area. The World Professional Association for Transgender Health (WPATH) is an international, multidisciplinary, professional association whose mission is to promote evidence-based care, education, research, public policy, and respect in transgender health. One of the main functions of WPATH is to promote the highest standards of health care for TGD people through the Standards of Care (SOC). The SOC was initially developed in 1979 and the last version (SOC-7) was published in 2012. In view of the increasing scientific evidence, WPATH commissioned a new version of the Standards of Care, the SOC-8. Aim: The overall goal of SOC-8 is to provide health care professionals (HCPs) with clinical guidance to assist TGD people in accessing safe and effective pathways to achieving lasting personal comfort with their gendered selves with the aim of optimizing their overall physical health, psychological well-being, and self-fulfillment. Methods: The SOC-8 is based on the best available science and expert professional consensus in transgender health. International professionals and stakeholders were selected to serve on the SOC-8 committee. Recommendation statements were developed based on data derived from independent systematic literature reviews, where available, background reviews and expert opinions. Grading of recommendations was based on the available evidence supporting interventions, a discussion of risks and harms, as well as the feasibility and acceptability within different contexts and country settings. Results: A total of 18 chapters were developed as part of the SOC-8. They contain recommendations for health care professionals who provide care and treatment for TGD people. Each of the recommendations is followed by explanatory text with relevant references. General areas related to transgender health are covered in the chapters Terminology, Global Applicability, Population Estimates, and Education. The chapters developed for the diverse population of TGD people include Assessment of Adults, Adolescents, Children, Nonbinary, Eunuchs, and Intersex Individuals, and people living in Institutional Environments. Finally, the chapters related to gender-affirming treatment are Hormone Therapy, Surgery and Postoperative Care, Voice and Communication, Primary Care, Reproductive Health, Sexual Health, and Mental Health. Conclusions: The SOC-8 guidelines are intended to be flexible to meet the diverse health care needs of TGD people globally. While adaptable, they offer standards for promoting optimal health care and guidance for the treatment of people experiencing gender incongruence. As in all previous versions of the SOC, the criteria set forth in this document for gender-affirming medical interventions are clinical guidelines; individual health care professionals and programs may modify these in consultation with the TGD person