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The distinct nature of this lamin B-associated phenotype highlights the strikingly different developmental requirements for lamin paralogs and suggests a novel mechanism for primary microcephaly warranting future investigation.

We identify dominant pathogenic variants in LMNB1 and LMNB2 as a genetic cause of primary microcephaly, implicating a major structural component of the nuclear envelope in its etiology and defining a new form of laminopathy. The distinct nature of this lamin B-associated phenotype highlights the strikingly different developmental requirements for lamin paralogs and suggests a novel mechanism for primary microcephaly warranting future investigation.

Patient-participants in psychiatric genetics research may be at an increased risk for negative psychosocial impacts related to the return of genetic research results. Examining psychiatric genetics researchers' return of results practices and perspectives can aid the development of empirically informed and ethically sound guidelines.

A survey of 407 psychiatric genetics researchers from 39 countries was conducted to examine current return of results practices, attitudes, and knowledge.

Most respondents (61%) reported that their studies generated medically relevant genomic findings. Although 24% have returned results to individual participants, 52% of those involved in decisions about return of results plan to return or continue to return results. Respondents supported offering "medically actionable" results related to psychiatric disorders (82%), and the majority agreed non-medically actionable risks for Huntington (71%) and Alzheimer disease (64%) should be offered. About half (49%) of respondents supported offering reliable polygenic risk scores for psychiatric conditions. Despite plans to return, only 14% of researchers agreed there are adequate guidelines for returning results, and 59% rated their knowledge about how to manage the process for returning results as poor.

Psychiatric genetics researchers support returning a wide range of results to patient-participants, but they lack adequate knowledge and guidelines.

Psychiatric genetics researchers support returning a wide range of results to patient-participants, but they lack adequate knowledge and guidelines.

Early identification and treatment of spinal muscular atrophy (SMA) are crucial but difficult. In this study, we aimed to assess the significance of compound motor action potential (CMAP) amplitude in patients identified through a newborn screening program.

We initiated a large-scale population newborn screening program for SMA in Taiwan in 2014. Patients had access to treatment through clinical trials or expanded use programs. Symptomatic patients were evaluated regularly, including CMAP exams.

Among 364,000 screened newborns, 21 were diagnosed with SMA. The incidence of SMA was around 1 in 17,000 live births, and 70% developed SMA type 1. All infants with two SMN2 copies became symptomatic before the age of 1 month. CMAP amplitudes of 12 newborns were available, including 6 who were subsequently treated with nusinersen. We found that a rapid decrease of CMAP amplitude was an early predictor of symptom onset. Pretreatment CMAP and rapid increment of post-treatment CMAP could predict better treatment outcomes.

This study prospectively demonstrated the incidence of SMA and its types. Our results imply the importance of pretreatment CMAP amplitude and rapid reversal of post-treatment CMAP amplitude with regard to disease presentation and also treatment outcomes.

This study prospectively demonstrated the incidence of SMA and its types. Our results imply the importance of pretreatment CMAP amplitude and rapid reversal of post-treatment CMAP amplitude with regard to disease presentation and also treatment outcomes.An amendment to this paper has been published and can be accessed via a link at the top of the paper.An amendment to this paper has been published and can be accessed via a link at the top of the paper.

We hypothesised that maternal diet-induced-obesity has adverse consequences for offspring energy expenditure and susceptibility to obesity in adulthood, and that the prebiotic polydextrose (PDX) would prevent the consequences of programming by maternal obesity.

Female mice were fed a control (Con) or obesogenic diet (Ob) for 6 weeks prior to mating and throughout pregnancy and lactation. Half the obese dams were supplemented with 5% PDX (ObPDX) in drinking water throughout pregnancy and lactation. Offspring were weaned onto standard chow. At 3 and 6 months, offspring energy intake (EI) and energy expenditure (EE by indirect calorimetry) were measured, and a glucose-tolerance test performed. Offspring of control (OffCon), obese (OffOb) and PDX supplemented (OffObP) dams were subsequently challenged for 3 weeks with Ob, and energy balanced reassessed. Potential modifiers of offspring energy balance including gut microbiota and biomarkers of mitochondrial activity were also evaluated.

Six-month-old male Ofpring energy balance and propensity for obesity, which is ameliorated by maternal PDX treatment with associated changes in gut microbiota composition and skeletal muscle mitochondrial function.

Maternal obesity adversely influences adult offspring energy balance and propensity for obesity, which is ameliorated by maternal PDX treatment with associated changes in gut microbiota composition and skeletal muscle mitochondrial function.Accurately quantifying dietary intake is essential to understanding the effect of diet on health and evaluating the efficacy of dietary interventions. Self-report methods (e.g., food records) are frequently utilized despite evident inaccuracy of these methods at assessing energy and nutrient intake. Methods that assess food intake via images of foods have overcome many of the limitations of traditional self-report. In cafeteria settings, digital photography has proven to be unobtrusive and accurate and is the method of choice for assessing food provision, plate waste, and food intake. In free-living conditions, image capture of food selection and plate waste via the user's smartphone, is promising and can produce accurate energy intake estimates, though accuracy is not guaranteed. These methods foster (near) real-time transfer of data and eliminate the need for portion size estimation by the user since the food images are analyzed by trained raters. A limitation that remains, similar to self-report methods where participants must truthfully record all consumed foods, is intentional and/or unintentional underreporting of foods due to social desirability or forgetfulness. Methods that rely on passive image capture via wearable cameras are promising and aim to reduce user burden; however, only pilot data with limited validity are currently available and these methods remain obtrusive and cumbersome. To reduce analysis-related staff burden and to allow real-time feedback to the user, recent approaches have aimed to automate the analysis of food images. The technology to support automatic food recognition and portion size estimation is, however, still in its infancy and fully automated food intake assessment with acceptable precision not yet a reality. This review further evaluates the benefits and challenges of current image-assisted methods of food intake assessment and concludes that less burdensome methods are less accurate and that no current method is adequate in all settings.

Large socioeconomic, gender, and ethnic inequalities exist in terms of childhood obesity worldwide. Children from low socioeconomic status families are more likely to have overweight/obesity and related cardiometabolic problems and future cancer risk. A wider concept are social vulnerabilities defined as social or economic characteristics or experiences negatively affecting children through behavioral, biological factors, or mental health. Social vulnerabilities include also therefore low subjective perceptions of social position.

This study aims to identify social vulnerabilities and to summarize their impact as obesity development risk factor. Preventive programs implemented targeting these vulnerable groups and their effectiveness are also discussed.

Literature review based on the experience of the authors social vulnerabilities identified as risk factors for childhood obesity were children whose parents lack of a social network, low support from formal and informal sources, parental unemployment, bend inequalities making them ineffective in most vulnerable groups. Interventions conducted in children from socially vulnerable group suggest modest but promising effects.

Behaviors such as dietary intake, physical activity, sedentary behaviors, and sleep are negatively affected by the stress and low levels of mental health derived from social vulnerabilities. It seems that high energy intakes rather than low physical activity levels might be the main driving force behind the obesity epidemic in vulnerable groups. Most of the prevention programs identified did not take into account social vulnerabilities and inequalities making them ineffective in most vulnerable groups. Interventions conducted in children from socially vulnerable group suggest modest but promising effects.Inflammatory bowel disease (IBD) is a global disease; its evolution can be stratified into four epidemiological stages Emergence, Acceleration in Incidence, Compounding Prevalence and Prevalence Equilibrium. In 2020, developing countries are in the Emergence stage, newly industrialized countries are in the Acceleration in Incidence stage, and Western regions are in the Compounding Prevalence stage. Western regions will eventually transition to the Prevalence Equilibrium stage, in which the accelerating prevalence levels off as the IBD population ages and possibly as a result of an unexpected rise in mortality during the COVID-19 pandemic. Mitigating the global burden of IBD will require concerted efforts in disease prevention and health-care delivery innovations that respond to changing demographics of the global IBD population. In this Perspective, we summarize the global epidemiology of IBD and use these data to stratify disease evolution into four epidemiological stages.An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Determine the associations between neonatal intensive care unit (NICU) medication safety practices, laboratory-based adverse events (lab-AEs), and death.

We combined data from a 2016 survey of Pediatrix NICUs on use of medication safety practices with 2014-2016 infant data. We grouped NICUs based on the number of safety practices used (≤5, 6-7, and 8-10) and evaluated the association between the number of safety practices used and lab-AEs and deaths using logistic regressions.

Of the 94 NICUs included, 17% used ≤5 medication safety practices, 51% used 6-7, and 32% used 8-10. NICUs with more safety practices did not have a difference in lab-AEs or death.

In this cohort, the use of more medication safety practices was not associated with fewer lab-AEs or decreased death.

In this cohort, the use of more medication safety practices was not associated with fewer lab-AEs or decreased death.