Epidemiology of achondroplasia: A population‐based study in Europe

Achondroplasia is a rare genetic disorder resulting in short‐limb skeletal dysplasia. We present the largest European population‐based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. All cases of achondroplasia notified to 28 EUROCAT registries (1991–2015) were included in the study. Prevalence, birth outcomes, prenatal diagnosis, associated anomalies, and the impact of paternal and maternal age on de novo achondroplasia were presented. The study population consisted of 434 achondroplasia cases with a prevalence of 3.72 per 100,000 births (95%CIs: 3.14–4.39). There were 350 live births, 82 terminations of pregnancy after prenatal diagnosis, and two fetal deaths. The prenatal detection rate was significantly higher in recent years (71% in 2011–2015 vs. 36% in 1991–1995). Major associated congenital anomalies were present in 10% of cases. About 20% of cases were familial. After adjusting for maternal age, fathers >34 years had a significantly higher risk of having infants with de novo achondroplasia than younger fathers. Prevalence was stable over time, but regional differences were observed. All pregnancy outcomes were included in the prevalence estimate with 80.6% being live born. The study confirmed the increased risk for older fathers of having infants with de novo achondroplasia.     

中文医学术语标准开发管理体系框架研究

中文医学术语标准对卫生健康信息共享和业务协同具有重要意义,中文医学术语标准的开发需要完善的组织管理机制和模式支撑。本研究通过分析国外典型医学术语标准开发和应用的管理模式,结合国内医学术语标准发展现状,提出了中文医学术语标准开发的管理体系框架,探讨了中文医学术语标准的制定、维护和推广过程中应关注的管理要素,对我国医学术语标准的发展具有指导意义。     

Discrepancies Between Australian Eating Disorder Clinicians and Consumers Regarding Essential Components of Dietetic Treatment

BackgroundA recent Delphi study indicated that, compared with eating disorder (ED) consumers and carers, ED specialists were less likely to endorse involvement of a dietitian as a standard component of treatment. In addition, there was disagreement between these groups regarding the inclusion of a number of components of dietetic treatment.ObjectiveThis study aimed to further investigate these data to identify areas of disagreement among ED specialist dietitians, ED specialist non–dietetic clinicians, consumers, and carers with regard to outpatient dietetic treatment.Design and participants/settingThe ED specialists panel from a previous Delphi study was recoded into 2 panels: ED specialist dietitians (n = 31) and ED specialist non–dietetic clinicians (n = 48) to compare responses of these panels with responses from consumers (n = 32) and carers (n = 23).Main outcome measuresStatements in 7 categories relating to referral to dietitian, essential components of outpatient dietetic treatment regarding 4 ED patient populations, strategies to promote multidisciplinary collaboration, and skills dietitians should possess if treating patients with an ED were rated on a 5-point Likert scale.Statistical analysis performedOne-way analysis of variance was conducted with post-hoc multiple comparisons to compare mean statement ratings.ResultsThirty-seven statements (30%) showed statistically significant differences (P < .05) in responses between panels. Discrepancies were primarily observed for statements regarding how and when dietetics is included in treatment and essential components of dietetic treatment, particularly the use of behavioral tasks, such meal plans and self-monitoring. Results also highlighted deficits in participants’ understanding of core responsibilities of dietitians in ED treatment and dietitians “drifting” from delivering evidence-based components of dietetic treatment.ConclusionsResults of this study show discrepancies among ED dietitians, clinicians, consumers, and carers regarding what dietetic treatment for people with EDs should encompass. It also indicates the need for further research into optimizing dietetic treatment for EDs that is conducted in collaboration with individuals with lived experience.     

Frequency of Sweet and Salty Snack Food Consumption Is Associated with Higher Intakes of Overconsumed Nutrients and Weight-For-Length z Scores During Infancy and Toddlerhood

BackgroundCurrent dietary guidelines recommend avoiding foods and beverages with added sugars and higher sodium before age 2 years.ObjectiveThe aim was to describe daily snack food intake (frequency and total energy) and the associations with overconsumed nutrients (added sugars, sodium, and saturated fats) and child weight-for-length z scores.DesignA cross-sectional, secondary analysis of baseline data from an ongoing longitudinal intervention was conducted.Participants and settingA sample of 141 caregivers with infants (aged 9 to 11 months) and toddlers (aged 12 to 15 months) was recruited in Buffalo, NY, between 2017 and 2019.Main outcome measuresThree 24-hour dietary recalls were used to categorize 'sweet and salty snack foods' or 'commercial baby snack foods' based on the US Department of Agriculture What We Eat in America food group classifications and estimate nutrient intakes. Child recumbent length and weight were measured by trained researchers.Statistical analysisDaily frequency (times/day), energy (kcal/day), and overconsumed nutrients from snack food intake were calculated. Multivariable regression models examined associations between the frequency of and energy from snack food intake with overconsumed nutrients and child weight-for-length z scores.ResultsInfants consumed snack foods on average 1.2 times/day contributing 5.6% of total daily energy, 19.6% of added sugars, and 6.8% of sodium. Toddlers consumed snack foods on average 1.4 times/day contributing 8.9% of total daily energy, 40.0% of added sugars, and 7.2% of sodium. In adjusted models including all children, greater frequency of sweet and salty snack food intake, but not commercial baby snack foods, was associated with higher weight-for-length z scores.ConclusionsSnack foods are frequently consumed by infants and toddlers and contribute to the intake of overconsumed nutrients such as added sugars and sodium. Given the current guidelines to avoid added sugars and higher sodium before age 2 years, additional recommendations related to nutrient-dense snack intake may be beneficial.     

National health care surveys and health care management

The bulk of medical care in the United States is provided in hospitals, physicians' offices, and nursing homes. The National Center for Health Statistics conducts three health record surveys that collect information on patient and provider characteristics and the services provided in these three settings. This paper describes each of these three surveys in terms of background (scope and data set), design, collection, processing procedures, and data dissemination. In addition, specific examples of how the survey data have been or can be used for management purposes in terms of monitoring, evaluating, and planning the utilization of health care in the United States are given.     

Social frailty dimensions and frailty models over time

IntroductionSocial frailty is a complex concept and there is still no consensus on the criteria that best define it, nor on the role that social dimensions play in well-established frailty models.AimTo analyse the predictive value of social frailty dimensions on distinct frailty models.MethodA non-probabilistic sample of 193 community-dwelling adults aged 65 years and over was recruited in 2016 and followed for three years. Frailty was assessed by the Tilburg Frailty Indicator, the Groningen Frailty Indicator, and the Fried Phenotype criteria. Questions about living alone, social network, social support, loneliness, and frequency of social activities engagement were used to assess social criteria. Bivariate correlations and sequential multiple hierarchical logistic regression analyses were performed.ResultsAt baseline, 22.2% older adults lived alone, 47.2% reported missing people around them, 21.1% reported lack of social support, 26.1% reported having reduced their participation in social activities recently and 52.2% reported loneliness. The percent of frail individuals varied across frailty measures, and social criteria showed significant correlations and increased the prediction of frailty status. Loneliness and social activities engagement were associated with frailty as assessed by the Tilburg frailty Indicator and by the Fried Phenotype criteria; the lack of social support is associated with frailty as assessed by the Groningen Frailty Indicator. Living alone and lack of social relationships did not predict frailty.ConclusionIncluding social dimensions in a frailty model needs a consensual theoretical basis as they have different roles in predicting frailty, varying over time and across assessment tools.