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Textbooks are an important aspect of students' school lives and the representation of scientists in textbooks is a proxy for the representation of who can do science. This study investigated the names of scientists and other people mentioned in four commonly used textbooks in the three education systems in the UK and Republic of Ireland (England, Wales, and Northern Ireland using the A Level system; Scotland using the Curriculum for Excellence Highers system; Republic of Ireland using the Leaving Certificate system) and characterised them by gender. We found an overwhelming bias towards naming of famous men in three of the four textbooks (1 man and 0 women in the A Level textbook; 8 men and 0 women in the first, and 48 men and 2 women in the second Curriculum for Excellence textbooks, and 45 men and 1 woman in the Leaving Certificate). We subsequently analysed images and again found a dominance of images representing men in three of the four textbooks including only 4 women in a total of 68 images in the Leaving Certificate textbook. These images were analysed by role (scientist or not), and by activity according to UNESCO criteria. There was a tendency to show men in scientific and other occupational roles while women were less well represented in scientific roles and were pictured in domestic and buying activities. This work aims to raise awareness of these representations and prompt action for reform in line with UN Strategic Development goals.

IGSF1 is a membrane glycoprotein highly expressed in the anterior pituitary. Pathogenic mutations in the IGSF1 gene (on Xq26.2) are associated with X-linked central hypothyroidism and testicular enlargement in males. In this study, we tested the hypothesis that IGSF1 is involved in the development of pituitary tumors, especially those that produce growth hormone (GH). IGSF1 was sequenced in 21 patients with gigantism or acromegaly and 92 healthy individuals. Expression studies with a candidate pathogenic IGSF1 variant were carried out in transfected cells and immunohistochemistry for IGSF1 was performed in the sections of GH-producing adenomas, familial somatomammotroph hyperplasia, and in normal pituitary. We identified the sequence variant p.N604T, which in silico analysis suggested could affect IGSF1 function, in two male patients and one female with somatomammotroph hyperplasia from the same family. Of 60 female controls, two carried the same variant and seven were heterozygous for other variants. Immunohistochemistry showed increased IGSF1 staining in the GH-producing tumor from the patient with the IGSF1 p.N604T variant compared with a GH-producing adenoma from a patient negative for any IGSF1 variants and with normal control pituitary tissue. The IGSF1 gene appears polymorphic in the general population. A potentially pathogenic variant identified in the germline of three patients with gigantism from the same family (segregating with the disease) was also detected in two healthy female controls. Variations in IGSF1 expression in pituitary tissue in patients with or without IGSF1 germline mutations point to the need for further studies of IGSF1 action in pituitary adenoma formation.

BackgroundOliver-McFarlane syndrome is characterised by trichomegaly, congenital hypopituitarism and retinal degeneration with choroidal atrophy. Laurence-Moon syndrome presents similarly, though with progressive spinocerebellar ataxia and spastic paraplegia and without trichomegaly. Both recessively inherited disorders have no known genetic cause.MethodsWhole-exome sequencing was performed to identify the genetic causes of these disorders. Mutations were functionally validated in zebrafish pnpla6 morphants. Embryonic expression was evaluated via in situ hybridisation in human embryonic sections. Human neurohistopathology was performed to characterise cerebellar degeneration. Enzymatic activities were measured in patient-derived fibroblast cell lines.ResultsEight mutations in six families with Oliver-McFarlane or Laurence-Moon syndrome were identified in the PNPLA6 gene, which encodes neuropathy target esterase (NTE). PNPLA6 expression was found in the developing human eye, pituitary and brain. In zebrafish, the pnpla6 curly-tailed morphant phenotype was fully rescued by wild-type human PNPLA6 mRNA and not by mutation-harbouring mRNAs. NTE enzymatic activity was significantly reduced in fibroblast cells derived from individuals with Oliver-McFarlane syndrome. Intriguingly, adult brain histology from a patient with highly overlapping features of Oliver-McFarlane and Laurence-Moon syndromes revealed extensive cerebellar degeneration and atrophy.ConclusionsPreviously, PNPLA6 mutations have been associated with spastic paraplegia type 39, Gordon-Holmes syndrome and Boucher-Neuhäuser syndromes. Discovery of these additional PNPLA6-opathies further elucidates a spectrum of neurodevelopmental and neurodegenerative disorders associated with NTE impairment and suggests a unifying mechanism with diagnostic and prognostic importance.

Introduction: The usual output following health consultations from paediatric services is a clinical letter to the referring professional or primary care provider, with a copy sent to the patient's caregiver. There is little research on how patients and caregivers perceive the letter content. We aimed to: first understand child, young people and caregiver experiences of and preferences for receiving a health feedback letter about the child/young person's health measures within a healthy lifestyle programme; and second to provide a set of recommendations for designing letters to children, young people and their families within a healthy lifestyle programme. Methods: This qualitative study, informed by Kaupapa Māori principles, included focus groups of children aged 5–11 years and young people aged 12–18 years who were participants in a healthy lifestyle programme in Taranaki, Aotearoa New Zealand and of their respective caregivers (total n = 47). Discussions were audio‐recorded, transcribed and analysed using thematic analysis. Findings: Key themes were identified: letters sometimes acted as 'discourses of disempowerment'—some participants experienced a lack of safety, depersonalisation with medical jargon and 'feeling like a number'. Participants described the need for acknowledgement and affirmation in written communication—health feedback should include validation, choice regarding content, respectful tone and a strengths‐based approach to health messages. Interpretation: Letters to referrers, copied to families, can be perceived as disempowering, and participant and caregiver perspectives of content should be considered. This study challenges conventional practice in communicating health feedback with broader implications for written communication in healthcare. We propose separate letters aimed at the child/young person and their caregiver that offer choice in the information they receive. The administrative burden of multiple letters can be mitigated by advances in digital health. Patient Contribution: This study originated in response to feedback from service users that current health feedback was not meeting their needs or expectations. Patient perspectives, especially from children, are rarely considered in the generation of clinic letters from health professionals. Participants were child participants in the community‐based clinical service and their caregivers, and care was taken to represent the demographic backgrounds of service users. Collection and interpretation of Māori data were led by researchers who were local community members to ensure prioritisation and preservation of participant voice. Where possible, results are illustrated in the text by direct quotes from participants, whose identities are protected with a pseudonym. [ABSTRACT FROM AUTHOR]

Aim: Obesity as a major risk factor for childhood hypertension necessitates careful blood pressure (BP) monitoring of those affected. This study aimed to compare BP classification in a cohort of children affected by obesity using tables versus digital calculations in two sets of guidelines. Methods: This study was a secondary analysis of data collected from a randomised clinical trial of a multidisciplinary life‐style assessment and intervention program. Baseline data from 237 children with a body mass index >99th percentile or >91st percentile with weight‐related comorbidities and available BP measurements were analysed. We assessed agreement between tables and algorithms in classification of elevated BP/pre‐hypertension and hypertension based on the American Academy of Paediatrics (AAP) clinical practice guidelines (CPG) and the older Fourth Report using Cohen's weighted kappa. The prevalence of hypertensive diagnoses was also compared between the two guidelines. Results: Agreement between BP tables and algorithmic calculation of percentiles was discordant, though improved in the AAP CPG compared to the Fourth Report (Cohen's kappa = 0.70 vs. 0.57, respectively). None (0%) were missed diagnoses, and 59 (24.9%) were false positives for the Fourth Report, and 0 (0%) were missed diagnoses, and 49 (20.9%) were false positives for the AAP CPG. Under the recent guidelines, there was an increase in prevalence of 6.0% (95% confidence interval (CI) 2.5–9.4%; P = 0.0001) for BP ≥90th percentile, and of 3.0% (95% CI 0.4–5.6%; p = 0.016) for hypertension (BP ≥ 95th percentile) in the cohort (18.0% and 6.8%, respectively, increased from 12.0% and 3.8%). Conclusions: Digital calculators over tables in clinical practice are recommended where possible to improve the accuracy of paediatric BP classification. Substantial rates of elevated BP/Hypertension were found in this cohort of children and adolescents with overweight and obesity. [ABSTRACT FROM AUTHOR]