Exploring parents’ experiences, attitudes and understanding of gastro-oesophageal reflux in infants

Background: Gastro-oesophageal reflux (GOR) affects nearly half of infants. Parents play a crucial role in management but more understanding of their attitudes and experiences is needed to inform future education, support and research. This study aims to explore parental experiences, attitudes and understanding of the symptoms, diagnosis and management of infant GOR.Methods: Qualitative semi-structured interviews with 9 parents of infants with GOR in the UK, analysed by thematic analysis.Results: 8 participants were mothers and median age was 34 years. Over half identified as White ethnicity. Parents described that GOR can affect all aspects of life, including mental wellbeing and bonding with their baby. Medications are time-consuming to prepare and can cause challenging side effects such as constipation. It is crucial that health professionals manage parental expectations in that treatments are not curative and symptoms do not last forever. Attitudes about healthcare professionals varied: some were perceived as dismissive,whilst some showed understanding. There were differences depending on whether the child was a first or second born child, with more understanding shown where the child was not the parents’ first born. Parents felt more education could be beneficial for parents and clinicians.Conclusions: Infant GOR can affect infants and parents in a variety of ways, impacting both physical and mental health. Parents play a vital role in the management of infant reflux, but there is lack of consistency of information and levels of knowledge among healthcare professionals vary. More education could be beneficial, and further research is needed into health professionals’ perceptions and fathers’ experiences

ChatGPT sits the DFPH exam: large language model performance and potential to support public health learning

BackgroundArtificial intelligence-based large language models, like ChatGPT, have been rapidly assessed for both risks and potential in health-related assessment and learning. However, their applications in public health professional exams have not yet been studied. We evaluated the performance of ChatGPT in part of the Faculty of Public Health’s Diplomat exam (DFPH).MethodsChatGPT was provided with a bank of 119 publicly available DFPH question parts from past papers. Its performance was assessed by two active DFPH examiners. The degree of insight and level of understanding apparently displayed by ChatGPT was also assessed.ResultsChatGPT passed 3 of 4 papers, surpassing the current pass rate. It performed best on questions relating to research methods. Its answers had a high floor. Examiners identified ChatGPT answers with 73.6% accuracy and human answers with 28.6% accuracy. ChatGPT provided a mean of 3.6 unique insights per question and appeared to demonstrate a required level of learning on 71.4% of occasions.ConclusionsLarge language models have rapidly increasing potential as a learning tool in public health education. However, their factual fallibility and the difficulty of distinguishing their responses from that of humans pose potential threats to teaching and learning

Cross-section and panel estimates of peer effects in early adolescent cannabis use: With a little help from my ‘friends once removed’

Peer effects in adolescent cannabis are difficult to estimate, due in part to the lack of appropriate data on behaviour and social ties. This paper exploits survey data that have many desirable properties and have not previously been used for this purpose. The data set, collected from teenagers in three annual waves from 2002 to 2004 contains longitudinal information about friendship networks within schools (N = 5020). We exploit these data on network structure to estimate peer effects on adolescents from their nominated friends within school using two alternative approaches to identification. First, we present a cross-sectional instrumental variable (IV) estimate of peer effects that exploits network structure at the second degree, i.e. using information on friends of friends who are not themselves ego's friends to instrument for the cannabis use of friends. Second, we present an individual fixed effects estimate of peer effects using the full longitudinal structure of the data. Both innovations allow a greater degree of control for correlated effects than is commonly the case in the substance-use peer effects literature, improving our chances of obtaining estimates of peer effects than can be plausibly interpreted as causal. Both estimates suggest positive peer effects of non-trivial magnitude, although the IV estimate is imprecise. Furthermore, when we specify identical models with behaviour and characteristics of randomly selected school peers in place of friends', we find effectively zero effect from these 'placebo' peers, lending credence to our main estimates. We conclude that cross-sectional data can be used to estimate plausible positive peer effects on cannabis use where network structure information is available and appropriately exploited

A rare inherited 15q11.2-q13.1 interstitial duplication with maternal somatic mosaicism, renal carcinoma and autism

Chromosome 15q11-q13.1 duplication is a common copy number variant associated with autism spectrum disorder (ASD). Most cases are de novo, maternal in origin and fully penetrant for ASD. Here we describe a unique family with an interstitial 15q11.2-q13.1 maternal duplication and the presence of somatic mosaicism in the mother. She is typically functioning, but formal autism testing showed mild ASD. She had several congenital anomalies, and she is the first 15q Duplication case reported in the literature to develop unilateral renal carcinoma. Her two affected children share some of these clinical characteristics, and have severe ASD. Several tissues in the mother, including blood, skin, a kidney tumor, and normal kidney margin tissues were studied for the presence of the 15q11-q13.1 duplication. We show the mother has somatic mosaicism for the duplication in several tissues to varying degrees. A growth competition assay in two types of stem cells from duplication 15q individuals was also performed. Our results suggest that the presence of this interstitial duplication 15q chromosome may confer a previously unknown growth advantage in this particular individual, but not in the general interstitial duplication 15q population

Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome

BackgroundDisabling pansclerotic morphea (DPM) is a rare systemic inflammatory disorder, characterized by poor wound healing, fibrosis, cytopenias, hypogammaglobulinemia, and squamous-cell carcinoma. The cause is unknown, and mortality is high.MethodsWe evaluated four patients from three unrelated families with an autosomal dominant pattern of inheritance of DPM. Genomic sequencing independently identified three heterozygous variants in a specific region of the gene that encodes signal transducer and activator of transcription 4 (STAT4). Primary skin fibroblast and cell-line assays were used to define the functional nature of the genetic defect. We also assayed gene expression using single-cell RNA sequencing of peripheral-blood mononuclear cells to identify inflammatory pathways that may be affected in DPM and that may respond to therapy.ResultsGenome sequencing revealed three novel heterozygous missense gain-of-function variants in STAT4. In vitro, primary skin fibroblasts showed enhanced interleukin-6 secretion, with impaired wound healing, contraction of the collagen matrix, and matrix secretion. Inhibition of Janus kinase (JAK)-STAT signaling with ruxolitinib led to improvement in the hyperinflammatory fibroblast phenotype in vitro and resolution of inflammatory markers and clinical symptoms in treated patients, without adverse effects. Single-cell RNA sequencing revealed expression patterns consistent with an immunodysregulatory phenotype that were appropriately modified through JAK inhibition.ConclusionsGain-of-function variants in STAT4 caused DPM in the families that we studied. The JAK inhibitor ruxolitinib attenuated the dermatologic and inflammatory phenotype in vitro and in the affected family members. (Funded by the American Academy of Allergy, Asthma, and Immunology Foundation and others.)