Cross-sectional and longitudinal associations between energy intake and BMI z-score in European children

Background: Evidence for the effect of dietary energy on BMI z-scores in young children is limited. We aim to investigate cross-sectional and longitudinal effects of daily energy intake (EI) on BMI z-scores of European boys and girls considering growth-related height dependencies of EI using residual EI. Methods: To investigate cross-sectional and longitudinal effects of daily energy intake (EI) on BMI z-scores of European boys and girls considering growth-related height dependencies of EI using residual EI. Methods: Subjects were children aged 2-<10 y old (N=2753, 48.2% girls) participating in the IDEFICS (Identification and prevention of Dietary- and lifestyle-induced health EFfects In Children and infantS) baseline and follow-up examination. Usual EI (kcal/day) was calculated based on the National Cancer Institute-method excluding subjects with implausible reported EI. Effect of age, height and sex-adjusted residuals of EI on BMI z-score was investigated stratified by baseline age -group (2-<4 y, 4-<6 y, 6-<8 y and 8-<10 y) cross-sectionally using linear regression models adjusted for relevant confounders (crude model: age, sex, country; fully adjusted model: plus parental ISCED level, parental BMI, screen time; subgroup analysis: plus objectively measured physical activity). Longitudinal associations were estimated between changes in (¿) residual EI per year and ¿BMI z-score per year with adjustments analogously to the cross-sectional models but with additional adjustment for residual EI at baseline. Results: Cross-sectionally, positive associations were observed between residual EI and BMI z-score for the full study sample, for boys and in older (=6years) but not in younger children in the crude and fully adjusted model. Longitudinally, small positive associations were observed between ¿residual EI per y on ¿BMI z-score per y for the full study sample and in 4-<6 y olds in the crude and fully adjusted model. Conclusion: In conclusion, EI above the average intakes for a certain sex, age and height are weakly associated with BMI z-scores in European children. Residual EI may be considered as a useful exposure measure in children as it accounts for growth-related changes in usual EI during childhood

Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS

A total of 178 consecutive patients with definite sALS without frontotemporal dementia (FTD) were enrolled in this study, after complete clinical evaluation. A Repeat-Primed Polymerase Chain Reaction (RP-PCR) protocol was applied to detect the G4C2 repeats expansions. In the studied sALS patients, 5.06% (n = 9) carried the C9orf72 mutation. Among carriers, 2/3 of them were females and spinal onset accounted for 78% and bulbar for 22%, while the mean age of onset was about 60 years. Our study showed that the prevalence of C9orf72 repeat expansion in Greek sALS patients is similar to the overall frequency of the mutation in European populations. The pathogenic mutation remains a promising biomarker for genetic testing and targeted treatment

SORL1 mutation in a Greek family with Parkinson's disease and dementia

Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from Parkinson’s disease and Parkinson’s disease dementia to dementia of mixed type (Alzheimer disease and vascular dementia). We identified a novel heterozygous c.G1135T (p.G379W) variant in SORL1 which segregated with the disease in the family. Mutation screening in sporadic Greek PD cases identified one additional individual with the mutation, sharing the same 12.8Mb haplotype. Our findings provide support for SORL1 mutations resulting in a broad range of additional phenotypes and warrants further studies in neurodegenerative diseases beyond AD

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

BACKGROUND: International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these diseases, and help to learn more about their geographical or population-based specificities, which is relevant for research purposes and for promoting better standards of care and diagnosis. Our objective was to create and implement a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) and to disseminate the knowledge of these disorders. RESULTS: Teams from nine different countries (United Kingdom, Spain, Italy, France, Germany, Denmark, Greece, Turkey and USA) created a consortium that developed the first European registry dedicated to rare muscle glycogenoses. A work plan was implemented to design the database and platform that constitute the registry, by choosing clinical, genetics and molecular variables of interest, based on experience gained from previous national registries for similar metabolic disorders. Among dissemination activities, several teaching events were organized in different countries, especially those where the consortium considered the awareness of these diseases needs to be promoted among health professionals and patients. CONCLUSION: EUROMAC represents a step forward in the knowledge of those disorders to which it is dedicated, and will have relevant clinical outcomes at the diagnostic, epidemiological, clinical and research level

Impact of the Covid-19 pandemic on perinatal mental health (Riseup-PPD-COVID-19): protocol for an international prospective cohort study

Background: Corona Virus Disease 19 (COVID-19) is a new pandemic, declared a public health emergency by the World Health Organization, which could have negative consequences for pregnant and postpartum women. The scarce evidence published to date suggests that perinatal mental health has deteriorated since the COVID-19 outbreak. However, the few studies published so far have some limitations, such as a cross-sectional design and the omission of important factors for the understanding of perinatal mental health, including governmental restriction measures and healthcare practices implemented at the maternity hospitals. Within the Riseup-PPD COST Action, a study is underway to assess the impact of COVID-19 in perinatal mental health. The primary objectives are to (1) evaluate changes in perinatal mental health outcomes; and (2) determine the risk and protective factors for perinatal mental health during the COVID-19 pandemic. Additionally, we will compare the results between the countries participating in the study. Methods: This is an international prospective cohort study, with a baseline and three follow-up assessments over a six-month period. It is being carried out in 11 European countries (Albania, Bulgaria, Cyprus, France, Greece, Israel, Malta, Portugal, Spain, Turkey, and the United Kingdom), Argentina, Brazil and Chile. The sample consists of adult pregnant and postpartum women (with infants up to 6 months of age). The assessment includes measures on COVID-19 epidemiology and public health measures (Oxford COVID-19 Government Response Tracker dataset), Coronavirus Perinatal Experiences (COPE questionnaires), psychological distress (BSI-18), depression (EPDS), anxiety (GAD-7) and post-traumatic stress symptoms (PTSD checklist for DSM-V). Discussion: This study will provide important information for understanding the impact of the COVID-19 pandemic on perinatal mental health and well-being, including the identification of potential risk and protective factors by implementing predictive models using machine learning techniques. The findings will help policymakers develop suitable guidelines and prevention strategies for perinatal mental health and contribute to designing tailored mental health interventions. Trial registration: ClinicalTrials.gov Identifier: NCT04595123.The project is part of the COST Action Riseup-PPD CA 18138 and was supported by COST under COST Action Riseup-PPD CA18138; also, by the Spanish Ministry of Health, the Institute of Health Carlos III, and the European Regional Development Fund «Una manera de hacer Europa» by the Prevention and Health Promotion Research Network ‘redIAPP’ (RD16/0007). Raquel Costa is supported by the FSE and FCT under an individual Post-Doctoral Grant SFRH/BPD/117597/2016. Rena Bina and Drorit Levy received funding from the Bar-Ilan Dangoor Centre for Personalized Medicine, Israel. Ana Mesquita is supported from the Portuguese Foundation for Science and Technology (FCT) and from EU through the European Social Fund and from the Human Potential Operational Program - IF/00750/2015. Ana Osório received financial support from CAPES/Proex no. 0653/2018 and CAPES/PrInt grant no. 88887.310343/2018-00.The funders of the study had no role in the study design or the writing the protocol. The corresponding author had final responsibility for the decision to submit for publication

Pregnancy termination for fetal abnormality: are health professionals’ perceptions of women’s coping congruent with women’s accounts?

Background: Pregnancy termination for fetal abnormality (TFA) may have profound psychological consequences for those involved. Evidence suggests that women’s experience of care influences their psychological adjustment to TFA and that they greatly value compassionate healthcare. Caring for women in these circumstances presents challenges for health professionals, which may relate to their understanding of women’s experience. This qualitative study examined health professionals’ perceptions of women’s coping with TFA and assessed to what extent these perceptions are congruent with women’s accounts. Methods: Fifteen semi-structured interviews were carried out with health professionals in three hospitals in England. Data were analysed using thematic analysis and compared with women’s accounts of their own coping processes to identify similarities and differences. Results: Health professionals’ perceptions of women’s coping processes were congruent with women’s accounts in identifying the roles of support, acceptance, problem-solving, avoidance, another pregnancy and meaning attribution as key coping strategies. Health professionals regarded coping with TFA as a unique grieving process and were cognisant of women’s idiosyncrasies in coping. They also considered their role as information providers as essential in helping women cope with TFA. The findings also indicate that health professionals lacked insight into women’s long-term coping processes and the potential for positive growth following TFA, which is consistent with a lack of aftercare following TFA reported by women. Conclusions: Health professionals’ perceptions of women’s coping with TFA closely matched women’s accounts, suggesting a high level of understanding. However, the lack of insight into women’s long-term coping processes has important clinical implications, as research suggests that coping with TFA is a long-term process and that the provision of aftercare is beneficial to women. Together, these findings call for further research into the most appropriate ways to support women post-TFA, with a view to developing a psychological intervention to better support women in the future

Progressive development of augmentation during long-term treatment with levodopa in restless legs syndrome: results of a prospective multi-center study

The European Restless Legs Syndrome (RLS) Study Group performed the first multi-center, long-term study systematically evaluating RLS augmentation under levodopa treatment. This prospective, open-label 6-month study was conducted in six European countries and included 65 patients (85% treatment naive) with idiopathic RLS. Levodopa was flexibly up-titrated to a maximum dose of 600 mg/day. Presence of augmentation was diagnosed independently by two international experts using established criteria. In addition to the augmentation severity rating scale (ASRS), changes in RLS severity (International RLS severity rating scale (IRLS), clinical global impression (CGI)) were analyzed. Sixty patients provided evaluable data, 35 completed the trial and 25 dropped out. Augmentation occurred in 60% (36/60) of patients, causing 11.7% (7/60) to drop out. Median time to occurrence of augmentation was 71 days. The mean maximum dose of levodopa was 311 mg/day (SD: 105). Patients with augmentation compared to those without were significantly more likely to be on higher doses of levodopa (≥300 mg, 83 vs. 54%, P = 0.03) and to show less improvement of symptom severity (IRLS, P = 0.039). Augmentation was common with levodopa, but could be tolerated by most patients during this 6-month trial. Patients should be followed over longer periods to determine if dropout rates increase with time

Changes to women's childbirth plans during the COVID-19 pandemic and posttraumatic stress symptoms: a cross-national study

A considerable number of women giving birth during COVID-19 pandemic reported being concerned about changes to their childbirth plans and experiences due to imposed restrictions. Research prior to the pandemic suggests that women may be more at risk of post-traumatic stress symptoms (PTSS) due to unmet expectations of their childbirth plans. Therefore, this study aimed to examine if the mismatch between women’s planned birth and actual birth experiences during COVID-19 was associated with women’s postpartum PTSS. Women in the postpartum period (up to 6 months after birth) across 11 countries reported on childbirth experiences, mental health, COVID-19-related factors, and PTSS (PTSD checklist DSM-5 version) using self-report questionnaires (ClinicalTrials.gov: NCT04595123). More than half (64%) of the 3532 postpartum women included in the analysis reported changes to their childbirth plans. All changes were significantly associated with PTSS scores. Participants with one and two changes to their childbirth plans had a 12% and 38% increase, respectively, in PTSS scores compared to those with no changes (Exp(β) = 1.12; 95% CI [1.06–1.19]; p < 0.001 and Exp(β) = 1.38; 95% CI [1.29–1.48]; p < 0.001). In addition, the effect of having one change in the childbirth plan on PTSS scores was stronger in primigravida than in multigravida (Exp(β) = 0.86; 95% CI [0.77–0.97]; p = 0.014). Changes to women’s childbirth plans during the COVID-19 pandemic were common and associated with women’s postpartum PTSS score. Developing health policies that protect women from the negative consequences of unexpected or unintended birth experiences is important for perinatal mental health

SINE indel polymorphism of AGL gene and association with growth and carcass traits in Landrace × Jeju black pig F2 population

Genetic polymorphisms in the glycogen debrancher enzyme (AGL) gene were assessed with regard to their association with growth and carcass traits in the F2 population crossbred Landrace and Jeju (Korea) Black pig. Three genotypes representing the insertion and/or deletion (indel) polymorphisms of short interspersed nuclear element were detected at frequencies of 0.278 (L/L), 0.479 (L/S), and 0.243 (S/S), respectively. The AGL S allele-containing pigs evidenced significantly heavier body weights at birth, the 3rd week, 10th week, and 20th week during developmental stages and higher average daily gains during the late period than were noted in the L/L homozygous pigs (P < 0.05), respectively. However, average daily gains during the early period were not significantly associated with genotype distribution (P > 0.05). With regard to the carcass traits, the S allele pigs (S/-) evidenced significantly heavier carcass weights and thicker backfat than was measured in L/L homozygous pigs (P < 0.05). However, body lengths, meat color, and marbling scores were all found not to be statistically significant (P > 0.05). Consequently, the faster growth rate during the late period and backfat deposition rather than intramuscular fat deposition cause differences in pig productivity according to genotypes of the AGL gene. These findings indicate that the AGL genotypes may prove to be useful genetic markers for the improvement of Jeju Black pig-related crossbreeding systems