Dietary intakes of iron, folate, and vitamin B12 during pregnancy and correlation with maternal hemoglobin and fetal growth: findings from the ROLO longitudinal birth cohort study.

PURPOSE: Dietary micronutrient intakes of iron, folate and vitamin B12 are known to influence hemoglobin. Low maternal hemoglobin (maternal anemia) has been linked to low birthweight and other adverse health outcomes in the fetus and infant. Our primary aim was to explore relationships between maternal dietary micronutrient intakes, maternal full blood count (FBC) parameters and fetal abdominal circumference (AC) and estimated fetal weight (EFW) growth trajectories. Secondarily, we aimed to assess relationships between maternal dietary micronutrient intakes, maternal hemoglobin values and placental weight and birthweight. METHODS: Mother-child pairs (n = 759) recruited for the ROLO study were included in this analysis. Maternal dietary micronutrient intakes were calculated from food diaries completed during each trimester of pregnancy. FBC samples were collected at 13- and 28-weeks' gestation. Fetal ultrasound measurements were recorded at 20- and 34-weeks' gestation. Growth trajectories for AC and EFW were estimated using latent class trajectory mixture models. RESULTS: Dietary intakes of iron and folate were deficient for all trimesters. Mean maternal hemoglobin levels were replete at 13- and 28-weeks' gestation. Dietary iron, folate and vitamin B12 intakes showed no associations with fetal growth trajectories, placental weight or birthweight. Lower maternal hemoglobin concentrations at 28 weeks' gestation were associated with faster rates of fetal growth and larger placental weights and birthweights. CONCLUSION: The negative association between maternal hemoglobin at 28 weeks' gestation and accelerated fetal and placental growth may be due to greater consumption of maternal iron and hemoglobin by fetuses' on faster growth trajectories in addition to placental biochemical responses to lower oxygen states.

Including the child's voice in research from a longitudinal birth cohort: insights from the ROLO young person's advisory group.

BACKGROUND: Public and patient involvement (PPI) through Young Person's Advisory Groups (YPAG) enables children to provide guidance and insight into research activities. PPI is an important characteristic of research, however, to date, most collaboration has been with adults. Also, few YPAGs have been established within the Irish setting. The ROLO (Randomised cOntrol trial of a LOw glycaemic index diet in pregnancy to prevent macrosomia) YPAG was established in July 2020 to identify the research priorities of a group of healthy Irish children who are part of a longitudinal birth cohort. We aimed to describe this process and the key insights to date. METHODS: The ROLO study is a longitudinal birth cohort which has followed-up mother-child dyads at multiple timepoints over 10 years. Mothers actively involved in the study were contacted by the research team to invite their ROLO child and older sibling to participate in the YPAG. Meetings were conducted virtually between July 2020 and February 2022. Researchers encouraged free expression of views amongst the children regarding their research interests. Meetings were recorded, transcribed verbatim and analysed for themes based on the topics most frequently discussed and considered important to participants. RESULTS: In all, seven ROLO children and six older siblings attended four ROLO YPAG meetings. Participants were aged between nine to fifteen years old. Four key themes were identified; study children viewed their identity as part of a longitudinal birth cohort as positive and unique; study children considered the fitness test and body measurements as fun aspects related to their participation; all children considered the impact and use of social media as an important form of communication; and all participants expressed interest in attaining new health-related information and learning opportunities. Children suggested topics such as mental health, future viruses, organ transplants, cancer, and the effect of technology and chemicals on the body were important for future research. CONCLUSION: The ROLO YPAG offers promising scope for continued collaboration. The themes identified from the meetings contribute to a gap in the literature which will guide future research activities, particularly with children, in view of study design, relevance, and by communication strategies. Trial Details: ISRCTN54392969 registered at www.isrctn.com .

The ROLO pregnancy study took place in the National Maternity Hospital in Dublin Ireland. It started in 2007 and ended in 2011. The researchers recorded what women were eating. They also measured the weight of the baby at birth. Since then, ROLO mothers and their children were invited to come back to the study. Now the children of the study are 9­11 years of age.The researchers invited members of the ROLO study to speak with them. They wanted to know what research was important to them. They set up a group called the ROLO Family Advisory Committee in 2017. This group of parents and researchers meet once a year. The group thought it was important to include children as well. They made a new group called the ROLO Young Person's Advisory Group in 2020. The group has 7 ROLO children and 6 older siblings. The members are aged between 9 and 15-years-old. The children and researchers have met four times so far.The researchers found four key themes. Study children saw their identity as being part of a longitudinal birth cohort as positive and unique. Study children liked the fitness test and body measurements. All children thought that social media was an important form of communication. All children were interested in learning new information on how their bodies worked.Involving this group of children is important. It will make our research more relevant. Other researchers who want to involve children can learn from our experience.

Coeliac screening in a high-risk population: paediatric type 1 diabetes-a review of current guidelines and practice.

BACKGROUND AND AIMS: Coeliac disease (CD) is more common in those with type 1 diabetes mellitus (T1DM) and may be asymptomatic despite the presence of intestinal histological changes. Optimal screening practice guidelines differ internationally. We undertook a retrospective audit to determine the efficacy of current screening practice for CD in T1DM in our centre. METHODS: All children and adolescents < 16 years, diagnosed with T1DM in our service and continuing to attend the service in January 2017 were included. Data on CD screening was collected and compared to current NICE, NASPGHAN and ESPGHAN guidelines. RESULTS: Of the 355 patients attending our service, 253 attended from T1DM diagnosis and all had CD screening performed in our centre. In 37 of 253 patients, IgA-TTG was positive, providing a cumulative prevalence of 14.6%. Of these, 31(83.78%) with an elevated TTG on screening had no recorded gastrointestinal symptoms or CD-related clinical signs. Of the 35 TTG plus EMA-positive patients, 22/35 (59.46%) had diagnostic endoscopic biopsy. Nineteen (83.4%) had CD confirmed, 1 (4.54%) had negative biopsy and 2 (9%) had equivocal, non-diagnostic changes. CONCLUSIONS: Timely diagnosis of CD can prevent chronic ill health in affected individuals, and in patients with T1DM, CD is an independent risk factor for increased morbidity and mortality. Given the high prevalence of atypical symptoms and silent CD in those with T1DM, in this and other studies, and the benefits of detection and treatment of CD, screening is essential. Large-scale data collection allowing for the development of evidence-based guidelines is required.

K40E: a novel succinate dehydrogenase (SDH)B mutation causing familial phaeochromocytoma and paraganglioma.

OBJECTIVE: Germline mutations in succinate dehydrogenase (SDH)B, SDHC and SDHD, encoding three of the four subunits of mitochondrial complex II, have been implicated in the tumourigenesis of familial paragangliomas and phaeochromocytomas. Twenty-three SDHB mutations have been identified to date. PATIENTS: We present a novel missense SDHB exon 2 mutation (c.118 A > G; K40E) identified in an Australian family. The proband was diagnosed with phaeochromocytoma at an early age following an unexpected hypertensive crisis and was found to be SDHB mutation-positive. Subsequent genetic screening of 26 family members has identified 17 mutation-positive relatives. In addition to the proband, four mutation positive relatives were found to have clinical symptoms or a lesion and/or catecholamine excess after the identification of the mutation led to further evaluation. Both the proband and an uncle have required surgical removal of a tumour. CONCLUSIONS: This family indicates the importance of germline screening of first-degree relatives when a patient presents with an apparently sporadic extra adrenal phaeochromocytoma at a young age or whenever a patient with a nonsecretory paraganglioma is found.