83 research outputs found
Re: "Invited Commentary: The Disillusionment of Developmental Origins of Health and Disease (DOHaD) Epidemiology"
No full textBody composition and metabolism in adults with molecularly-confirmed Silver-Russell syndrome
No full textContext: Low birth weight, as seen in Silver-Russell syndrome (SRS), is associated with later cardiometabolic disease. Data on long-term outcomes and adult body composition in SRS are limited. Objective: To evaluate body composition and metabolic health in adults with SRS. Methods: This was an observational study of 25 individuals with molecularly confirmed SRS, aged ≥ 18 years, from research facilities across the UK. Body composition and metabolic health were assessed at a single appointment. Individuals with SRS were compared with unaffected men and women (from the Southampton Women's Survey [SWS]). Fat mass, lean mass, bone mineral density (BMD), blood pressure, lipids, and blood glucose were measured. Results: Twenty-five adults with SRS were included (52% female). The median age was 32.9 years (range, 22.0 to 69.7). Fat percentage was greater in the SRS group than the SWS cohort (44.1% vs 30.3%, P < .001). Fat mass index was similar (9.6 vs 7.8, P = .3). Lean mass percentage (51.8% vs 66.2%, P < .001) and lean mass index (13.5 kg/m2 vs 17.3 kg/m2, P < .001) were lower in the SRS group than the SWS cohort. BMD was lower in the SRS group than the SWS cohort (1.08 vs 1.24, P < .001; all median values). Total cholesterol was ≥ 5 mmol/L in 52.0%. Triglyceride levels were ≥ 1.7 mmol/L in 20.8%. Fasting blood glucose levels were ≥ 6.1 mmol/L in 25.0%. Hypertension was present in 33.3%. Conclusion: Adults with SRS have an unfavorable body composition and predisposition to cardiometabolic disease. These results support the need for a health surveillance strategy to mitigate adverse outcomes.</p
Singaporean mothers' perception of their three-year-old child's weight status: A cross-sectional study
No full textSingapore National Research Foundation; National Medical Research Council (NMRC), SingaporeFull Author List: Cheng T.S.; Cheng T.; Loy S.; Cheung Y.; Chan J.; Tint M.; Godfrey K.; Gluckman P.; Kwek K.; Saw S.; Chong Y.; Lee Y.; Yap F.; Lek N.; Sheppard A.; Chinnadurai A.; Goh A.; Rifkin-Graboi A.; Qiu A.; Biswas A.; Lee B.; Broekman B.; Quah B.; Shuter B.; Chng C.; Ngo C.; Hsu S.; Bong C.; Henry C.; Chee C.; Fok D.; Yeo G.; Inskip H.; Chen H.; Van Bever H.; Magiati I.; Wong I.; Lau I.; Kapur J.; Richmond J.; Holbrook J.; Gooley J.; Tan K.; Niduvaje K.; Singh L.; Su L.; Daniel L.; Shek L.; Fortier M.; Hanson M.; Chong M.; Rauff M.; Chua M.; Meaney M.; Teoh O.; Wong P.; Agarwal P.; Van Dam R.; Rebello S.; Chong S.; Cai S.; Soh S.; Lim S.; Rajadurai V.; Stunkel W.; Han W.; Pang W.; Goh Y.; Chan Y.</p
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood
No full textBackground Silver-Russell syndrome is an imprinting disorder that restricts growth, resulting in short adult stature that may be ameliorated by treatment. Approximately 50% of patients have loss of methylation of the imprinting control region (H19/IGF2:IG-DMR) on 11p15.5 and 5%–10% have maternal uniparental disomy of chromosome 7. Most published research focuses on the childhood phenotype. Our aim was to describe the phenotypic characteristics of older patients with SRS.Methods A retrospective cohort of 33 individuals with a confirmed molecular diagnosis of SRS aged 13 years or above were carefully phenotyped.Results The median age of the cohort was 29.6 years; 60.6% had a height SD score (SDS) ≤−2 SDS despite 70% having received growth hormone treatment. Relative macrocephaly, feeding difficulties and a facial appearance typical of children with SRS were no longer discriminatory diagnostic features. In those aged ≥18 years, impaired glucose tolerance in 25%, hypertension in 33% and hypercholesterolaemia in 52% were noted. While 9/33 accessed special education support, university degrees were completed in 40.0% (>21 years). There was no significant correlation between quality of life and height SDS. 9/25 were parents and none of the 17 offsprings had SRS.Conclusion Historical treatment regimens for SRS were not sufficient for normal adult growth and further research to optimise treatment is justified. Clinical childhood diagnostic scoring systems are not applicable to patients presenting in adulthood and SRS diagnosis requires molecular confirmation. Metabolic ill-health warrants further investigation but SRS is compatible with a normal quality of life including normal fertility in many cases
Behaviour change interventions: getting in touch with individual differences, values and emotions
No full textSystematic reviews and meta-analyses suggest that behaviour change interventions have modest effect sizes, struggle to demonstrate effect in the long term and that there is high heterogeneity between studies. Such interventions take huge effort to design and run for relatively small returns in terms of changes to behaviour. So why do behaviour change interventions not work and how can we make them more effective? This article offers some ideas about what may underpin the failure of behaviour change interventions. We propose three main reasons that may explain why our current methods of conducting behaviour change interventions struggle to achieve the changes we expect: 1) our current model for testing the efficacy or effectiveness of interventions tends to a mean effect size. This ignores individual differences in response to interventions; 2) our interventions tend to assume that everyone values health in the way we do as health professionals; and 3) the great majority of our interventions focus on addressing cognitions as mechanisms of change. We appeal to people's logic and rationality rather than recognising that much of what we do and how we behave, including our health behaviours, is governed as much by how we feel and how engaged we are emotionally as it is with what we plan and intend to do. Drawing on our team's experience of developing multiple interventions to promote and support health behaviour change with a variety of populations in different global contexts, this article explores strategies with potential to address these issues.</p
The lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood
No full textObjective: There is limited information on the psychosocial impact of growing up with Silver-Russell syndrome (SRS), characterised by slow growth in utero leading to short stature in adulthood. Such information could aid families in making difficult treatment decisions and guide management strategies for health professionals. We aimed to explore the lived experience of people with SRS across the lifespan. Design/setting/patients: In-depth, semi-structured interviews were conducted between January 2015 and October 2016 with a sample of fifteen adults (six women) with genetically confirmed SRS from the UK. Qualitative interviews were transcribed and coded to identify similarities and differences: codes were then grouped to form overarching themes.Results: Four themes were identified from participant accounts: 1) Appearance-related concerns extending beyond height; 2) Strategies to deal with real and perceived threats; 3) Women’s experiences of pain, disability, and feeling older than their years; and 4) Feeling overlooked in romantic relationships. These themes show that other factors, beyond short stature, affect patient well-being and indicate a mismatch exists between patient need and healthcare provision.Conclusions: Challenges in SRS during childhood and adolescence were central to the psychosocial impact of SRS, and were not limited to height. These challenges, as well as symptoms such as pain and fatigue for women, have not previously been documented. To help individuals with SRS to develop strategies to manage psychosocial issues, we recommend clinicians incorporate psychological services as an integral part of multi-disciplinary teams managing individuals with SRS during childhood, adolescence, and adulthood. <br/
Childhood socioeconomic position and objectively measured physical capability levels in adulthood: a systematic review and meta-analysis
No full text<p><b>Background:</b> Grip strength, walking speed, chair rising and standing balance time are objective measures of physical capability that characterise current health and predict survival in older populations. Socioeconomic position (SEP) in childhood may influence the peak level of physical capability achieved in early adulthood, thereby affecting levels in later adulthood. We have undertaken a systematic review with meta-analyses to test the hypothesis that adverse childhood SEP is associated with lower levels of objectively measured physical capability in adulthood.</p>
<p><b>Methods and Findings:</b> Relevant studies published by May 2010 were identified through literature searches using EMBASE and MEDLINE. Unpublished results were obtained from study investigators. Results were provided by all study investigators in a standard format and pooled using random-effects meta-analyses. 19 studies were included in the review. Total sample sizes in meta-analyses ranged from N = 17,215 for chair rise time to N = 1,061,855 for grip strength. Although heterogeneity was detected, there was consistent evidence in age adjusted models that lower childhood SEP was associated with modest reductions in physical capability levels in adulthood: comparing the lowest with the highest childhood SEP there was a reduction in grip strength of 0.13 standard deviations (95% CI: 0.06, 0.21), a reduction in mean walking speed of 0.07 m/s (0.05, 0.10), an increase in mean chair rise time of 6% (4%, 8%) and an odds ratio of an inability to balance for 5s of 1.26 (1.02, 1.55). Adjustment for the potential mediating factors, adult SEP and body size attenuated associations greatly. However, despite this attenuation, for walking speed and chair rise time, there was still evidence of moderate associations.</p>
<p><b>Conclusions:</b> Policies targeting socioeconomic inequalities in childhood may have additional benefits in promoting the maintenance of independence in later life.</p>
Height and body mass index in molecularly-confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment
No full textObjective: Silver–Russell syndrome (SRS) causes short stature. Growth hormone (GH) treatment aims to increase adult height. However, data are limited on the long-term outcomes of GH in patients with molecularly confirmed SRS. This study evaluated height, body mass index (BMI) and GH treatment in molecularly confirmed SRS. Design: An observational study with retrospective data collection. Patients: Individuals with molecularly confirmed SRS aged ≥13 years. Measurements: Data were collected on height, height gain (change in height standard deviation score [SDS] from childhood to final or near-final height), BMI and gain in BMI (from childhood to adulthood) and previous GH treatment. Results: Seventy-one individuals (40 female) were included. The median age was 22.0 years (range 13.2–69.7). The molecular diagnoses: H19/IGF2:IG-DMR LOM in 80.3% (57/71); upd(7)mat in 16.9% (12/71) and IGF2 mutation in 2.8% (2/71). GH treatment occurred in 77.5% (55/71). Total height gain was greater in GH-treated individuals (median 1.53 SDS vs. 0.53 SDS, p =.007), who were shorter at treatment initiation (−3.46 SDS vs. −2.91 SDS, p =.04) but reached comparable heights to GH-untreated individuals (−2.22 SDS vs. −2.74 SDS, p =.7). In GH-treated individuals, BMI SDS was lower at the most recent assessment (median −1.10 vs. 1.66, p =.002) with lower BMI gain (2.01 vs. 3.58, p =.006) despite similar early BMI SDS to GH-untreated individuals (median −2.65 vs. −2.78, p =.3). Conclusions: These results support the use of GH in SRS for increasing height SDS. GH treatment was associated with lower adult BMI which may reflect improved metabolic health even following discontinuation of therapy.</p
How do women prepare for pregnancy? Preconception experiences of women attending antenatal services and views of health professionals
No full textCopyright: © 2014 Stephenson et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.Main objective - To determine the extent to which women plan and prepare for pregnancy.
Methods - Cross-sectional questionnaire survey of pregnant women attending three maternity services in London about knowledge and uptake of preconception care; including a robust measure of pregnancy planning, and phone interviews with a range of health care professionals.
Main results - We recruited 1173/1288 (90%) women, median age of 32 years. 73% had clearly planned their pregnancy, 24% were ambivalent and only 3% of pregnancies were unplanned. 51% of all women and 63% of those with a planned pregnancy took folic acid before pregnancy. 21% of all women reported smoking and 61% reported drinking alcohol in the 3 months before pregnancy; 48% of smokers and 41% of drinkers reduced or stopped before pregnancy. The 51% of all women who reported advice from a health professional before becoming pregnant were more likely to adopt healthier behaviours before pregnancy [adjusted odds ratios for greatest health professional input compared with none were 2.34 (95% confidence interval 1.54–3.54) for taking folic acid and 2.18 (95% CI 1.42–3.36) for adopting a healthier diet before pregnancy]. Interviews with 20 health professionals indicated low awareness of preconception health issues, missed opportunities and confusion about responsibility for delivery of preconception care.
Significance of the findings - Despite a high level of pregnancy planning, awareness of preconception health among women and health professionals is low, and responsibility for providing preconception care is unclear. However, many women are motivated to adopt healthier behaviours in the preconception period, as indicated by halving of reported smoking rates in this study. The link between health professional input and healthy behaviour change before pregnancy is a new finding that should invigorate strategies to improve awareness and uptake of pre-pregnancy health care, and bring wider benefits for public health.Department of Healt
Phylogeography of the second plague pandemic revealed through analysis of historical Yersinia pestis genomes
No full textThe second plague pandemic, caused by Yersinia pestis, devastated Europe and the nearby regions between the 14th and 18th centuries AD. Here we analyse human remains from ten European archaeological sites spanning this period and reconstruct 34 ancient Y. pestis genomes. Our data support an initial entry of the bacterium through eastern Europe, the absence of genetic diversity during the Black Death, and low within-outbreak diversity thereafter. Analysis of post-Black Death genomes shows the diversification of a Y. pestis lineage into multiple genetically distinct clades that may have given rise to more than one disease reservoir in, or close to, Europe. In addition, we show the loss of a genomic region that includes virulence-related genes in strains associated with late stages of the pandemic. The deletion was also identified in genomes connected with the first plague pandemic (541–750 AD), suggesting a comparable evolutionary trajectory of Y. pestis during both events. © 2019, The Author(s)
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