Practice resource-focused revision: Standardized pedigree nomenclature update centered on sex and gender inclusivity: A practice resource of the National Society of Genetic Counselors.

This focused revision builds on the expert opinions from the original publications of 'Recommendations for human standardized pedigree nomenclature' published in 1995 and updated in 2008. Our review of medical publications since 2008 did not identify any fundamental systematic alternative pedigree nomenclature. These findings attest to the relevance of most of the nomenclature with the critical exception of the nomenclature used to denote sex assigned at birth and gender. While we are not recommending the creation of any new pedigree symbols, a major focus of this publication is clarification of the use of symbols and language in the description of the distinction between sex and gender, with a view to ensuring safe and inclusive practice for people who are gender-diverse or transgender. In addition, we recommend modifications to the way that carrier status is depicted. Our goal is to respect individual differences and identities while maintaining biologically, clinically, and genetically meaningful information.

Live imaging the foreign body response in zebrafish reveals how dampening inflammation reduces fibrosis.

Implanting biomaterials in tissues leads to inflammation and a foreign body response (FBR), which can result in rejection. Here, we live image the FBR triggered by surgical suture implantation in a translucent zebrafish model and compare with an acute wound response. We observe inflammation extending from the suture margins, correlating with subsequent avascular and fibrotic encapsulation zones: sutures that induce more inflammation result in increased zones of avascularity and fibrosis. Moreover, we capture macrophages as they fuse to become multinucleate foreign body giant cells (FBGCs) adjacent to the most pro-inflammatory sutures. Genetic and pharmacological dampening of the inflammatory response minimises the FBR (including FBGC generation) and normalises the status of the tissue surrounding these sutures. This model of FBR in adult zebrafish allows us to live image the process and to modulate it in ways that may lead us towards new strategies to ameliorate and circumvent FBR in humans.This article has an associated First Person interview with the first author of the paper.

The impact of wrong-site surgery on dental undergraduate teaching: a survey of UK dental schools.

INTRODUCTION: Patient safety within dental education is paramount. Wrong-site surgery (WSS) tooth extraction is not uncommon and is a significant never event (NE) in dentistry. This study aimed to explore dental schools' undergraduate experience of NEs, safety interventions implemented and the impact on student experience. METHODS: All 16 UK dental schools were surveyed via email. RESULTS: The response rate was 100%. A modified World Health Organization (WHO) checklist was used within institutions (94%) including pre-operative briefings and recording teeth on whiteboards (81%, respectively). Students were directly supervised performing extractions (63%) utilising a 1:4 staff: student ratio. WSS by students was reported in 69% of schools, with student experience being impacted by an increased patient safety focus. DISCUSSION: This study demonstrated an increased utilisation of an adapted WHO checklist. Modification of practices to ensure patient safety was demonstrated at all schools, irrespective of student WSS occurrences. Institutions experiencing student NEs commonly implemented WHO checklists and recording teeth for extraction on whiteboards. Other strategies included direct staff supervision and pre-operative briefings. CONCLUSION: UK dental schools have increased the emphasis on patient safety by the implementation of national healthcare models, for example WHO checklists and pre-operative briefings. These strategies both aim to improve communication and teamwork. Increased levels of staff supervision foster greater quality of teaching; however, this has resulted in reduced student clinical experience. A proposed minimum standard for undergraduate surgery is suggested to ensure safe and competent dental practitioners of the future.

Spindle cell haemangioma of the tongue.

BACKGROUND: Spindle cell hemangioma (SCH) is an uncommon benign vascular tumor that rarely occurs in the mouth. METHODS AND RESULTS: We present an SCH arising in the tongue of a 52-year-old otherwise healthy woman. SCH should be considered in the differential diagnosis of vascular tumors in the oral cavity and not misinterpreted as a more aggressive vascular tumor. We describe the clinical presentation, investigation, differential diagnosis and management of this condition and a literature search showing published case reports. CONCLUSION: Although SCH rarely presents in the oral cavity it needs to be considered in the differential diagnosis of oral cavity tumors.

Impact of routine systematic polymerase chain reaction testing on case finding for Legionnaires' disease: a pre-post comparison study.

BACKGROUND: Legionnaires' disease cannot be clinically or radiographically distinguished from other causes of pneumonia, and specific tests are required to make the diagnosis. Currently, testing occurs erratically and, instead, clinicians rely on empiric treatment strategies and ignore public health implications of the diagnosis. We aimed to measure the increase in case detection of Legionnaires' disease following the introduction of routine polymerase chain reaction (PCR) testing of respiratory specimens. PCR is the most sensitive diagnostic tool for Legionnaires' disease. METHODS: In a quasi-experimental study in Christchurch, New Zealand, we compared the number of cases of Legionnaires' disease requiring hospitalization diagnosed during a 2-year period before the introduction of a routine PCR testing strategy (November 2008-October 2010) with a similar period after the introduction (November 2010-October 2012). With this testing strategy, all respiratory specimens from hospitalized patients with pneumonia sent to the region's sole tertiary-level laboratory were tested for Legionella by PCR, whether requested or not. RESULTS: During November 2008 to October 2010, there were 22 cases of Legionnaires' disease compared with 92 during November 2010 to October 2012. Of 1834 samples tested since November 2010, 1 in 20 was positive, increasing to 1 in 9 during peak Legionella season (November to January). Increasing bacterial load was associated with increasing disease severity. CONCLUSIONS: In our region, the burden of Legionnaires' disease is much greater than was previously recognized. Routine PCR testing provides results within a clinically relevant time frame and enables improved characterization of the regional epidemiology of Legionnaires' disease.

Patient Safety Education in the Undergraduate Dental Curriculum: Evidence Base and Current Practice in UK Dental Schools.

OBJECTIVES: International consensus advises patient safety education (PSE) for dental undergraduates. A previous systematic review found no articles describing PSE in dentistry. This article aimed to review the evidence base for, and the current practice of, PSE in UK dental schools. METHODS: Literature search and surveys were sent via email to all 16 UK dental schools. RESULTS: Six articles describing PSE interventions were found: 2 small-scale studies for dental students and 4 interprofessional studies. Patient safety education is effective for undergraduate dental students with significant improvement in knowledge and interest. Interprofessional studies reported improved teamwork skills and more positive attitudes toward interprofessional working.The 2018 and 2021 surveys had response rates of 56% and 100%, respectively. An increase in integrated formal PSE and assessment in UK dental schools is demonstrated. No barriers to implementation were reported. Forty-six percent of schools deliver interprofessional PSE, 38% deliver human factors, 81% teach communication, 94% teach professionalism, and 31% of schools have a patient safety (PS) champion. CONCLUSIONS: Limited published literature on PSE in dentistry is available. However, the lack of published articles does not mean that PS is not being taught, as many UK dental schools were found to have formal PSE integrated and assessed within their curriculum. Further development is needed in terms of appointing PS champions for leadership and human factors training. Patient safety must form a part of an undergraduate student's core values.

A survey on the cost of oral surgery dental speciality training.

Background Following graduation, training costs for an individual trainee to achieve completion of specialist surgical training has been estimated to be between £20,000 to £71,431, and is expected to rise. Furthermore, there are other non-monetary costs to consider, including poor work-life balance and the burden of training on home life.Methods A 22-question online survey using SurveyGizmo was developed and emailed to all current UK and Ireland oral surgery trainees from 2016-2019. The survey consisted of open free text, binomial and variable scale responses related to the cost of training.Results A total of 43 (96%) oral surgery trainees responded to the survey. Sixty-eight percent had enrolled on a postgraduate degree, or other higher qualification, during their training. Of these, only 4.5% were fully funded and nearly half received no funding at all. Trainees reported vast disparities in financial support across deaneries, with an overall average study budget of £687. Annual obligatory costs of up to £4,142 and a mean average spend of £9,240 on courses and £2,830 on conferences were reported. Childcare, relocating and textbooks were listed as additional costs incurred.Conclusion A standardised, transparent and more substantial financial support system is required for dental specialty trainees.

Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors.

In 1995, the Pedigree Standardization Task Force (PSTF) of the National Society of Genetic Counselors (NSGC) proposed a system of pedigree nomenclature. Recently, the PSTF (now called the Pedigree Standardization Work Group or PSWG) sought evidence that the published symbols met the needs of health professionals, were incorporated into health professional training and were utilized in publications. We searched PubMed and reference lists of select publications, reviewed the Instructions for Authors of several journals, searched the websites of professional societies, sought comment from the membership of the NSGC, and looked at recommendations and training practices of various health professional organizations. Many journals still do not cite specific standards for pedigrees, but those found cited the PSTF nomenclature. We did not find significant objections or alternatives to the 1995 nomenclature. Based on our review, we propose only a few minor stylistic changes to the pedigree symbols. The pedigree nomenclature of the NSGC is the only consistently acknowledged standard for drawing a family health history. We recommend regular and continued review of these pedigree standards to determine if additional symbols are needed to accommodate changes in clinical practice to ensure that the symbols continue to meet the needs of health professionals and researchers as well as adhere to evolving ethical and privacy standards. All health professionals, trainees, and researchers should be made aware of the utility of using a common pedigree nomenclature in clinical practice and publication. This will become particularly important as electronic medical records become more widely utilized.

The developmental expression of foxl2 in the dogfish Scyliorhinus canicula.

The FoxL2 genes are a subfamily of the Fox (forkhead box) gene family. FOXL2 is mutated in the disorder Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES), which is characterized by eyelid malformations, and Premature Ovarian Failure (POF). In the mouse expression is seen in the perioptic mesenchyme, developing eyelids, ovary and pituitary. We have isolated a foxl2 cDNA from the dogfish Scyliorhinus canicula (also known as the lesser spotted catshark), allowing the characterisation of this gene's sequence and expression from a lineage that diverged early in the evolution of gnathostomes. Molecular phylogenetic analysis strongly grouped this sequence with the gnathostomes within the FoxL2 subfamily. We demonstrate the early expression of Scyliorhinus canicula foxl2 in the mandibular head mesoderm and later in continuous populations of mandibular arch cells and mandibular head mesenchyme cells around the developing pituitary. As development proceeds expression decreases in the mesenchyme of the head but is seen in the mesenchyme around the eye and later in the developing eyelids. Additionally expression is seen in regions of pharyngeal arch mesoderm and in ectoderm from which gill buds will form. This expression is maintained in the developing and elongating gill buds. Thus, S. canicula foxl2 is a marker for the mandibular mesoderm and gill buds and its expression is conserved in the perioptic mesenchyme, developing eyelids and pituitary.

Developmental vitamin D (DVD) deficiency in the rat alters adult behaviour independently of HPA function.

Developmental vitamin D deficiency (DVD) has been shown to alter the orderly pattern of brain development. Even though the period of vitamin D deficiency is restricted to gestation this is sufficient to induce behavioural abnormalities in the adult offspring consistent with those seen in many animal models of schizophrenia. Given that some of these behavioural alterations could also be an indirect result of either impaired maternal hypothalamic pituitary axis (HPA) function (which in turn could influence maternal care) or the result of a permanent alteration in HPA function in the adult offspring we have examined HPA status in both maternal animals and adult offspring. In this study we have established that HPA function is normal in the maternally vitamin D deficient rat. We replicate the behavioural phenotype of hyperlocomotion whilst establishing that HPA function is also unchanged in the adult male offspring. We conclude that the behavioural alterations induced by DVD deficiency are due to some adverse event in brain development rather than via an alteration in stress response.

The Clinical Impact of Rapid, Direct MALDI-ToF Identification of Bacteria from Positive Blood Cultures.

BACKGROUND: Faster identification of bacterial isolates from blood cultures can enable earlier clinical intervention for patients with sepsis. We evaluated the clinical impact of direct identification of micro-organisms from positive blood cultures using MALDI-ToF. METHOD: Positive blood cultures with organisms seen on Gram stain were included over a four week period. For each patient case, comparison was made between the clinical advice given on day one with only a Gram stain result, and the follow up advice given on day two with the benefit of organism identification. Culture results were then compared with direct MALDI-ToF identification. RESULTS: For 73 of 115 cases (63.5%), direct organism identification was obtained by MALDI-ToF. Of those 73, 70 (95.5%) had a result concordant with that of the plate culture. In 28 of the 115 cases (24.3%) direct MALDI-ToF identification on day one would have had a clear clinical benefit. In 11 cases it would have helped to identify the potential source of bacteraemia. In 11 cases it would have indicated a different antibiotic regimen on day one, with five patients receiving appropriate antibiotics 24 hours earlier. For 14 cases the blood culture isolate could have been designated as unlikely to be clinically significant. CONCLUSION: We have demonstrated that organism identification on day one of blood culture positivity can have a direct clinical impact. Faster identification using MALDI-ToF assists the clinician in assessing the significance of a blood culture isolate on day one. It can allow earlier appropriate choice of antimicrobial agent, even in the absence of susceptibility testing, and help narrow down the potential source of infection providing a focus for further investigation in a more timely way than conventional techniques alone.

Impact of Cell-Free Fetal DNA Screening on Patients' Choice of Invasive Procedures after a Positive California Prenatal Screen Result.

Until recently, maternal serum analyte levels paired with sonographic fetal nuchal translucency measurement was the most accurate prenatal screen available for Trisomies 18 and 21, (91% and 94% detection and false positive rates of 0.31% and 4.5% respectively). Women with positive California Prenatal Screening Program (CPSP) results have the option of diagnostic testing to determine definitively if the fetus has a chromosomal abnormality. Cell-free fetal (cff-) DNA screening for Trisomies 13, 18, and 21 was first offered in 2012, allowing women with positive screens to choose additional screening before diagnostic testing. Cff-DNA sensitivity rates are as high as 99.9% and 99.1%, with false positive rates of 0.4% and 0.1%, for Trisomies 18 and 21, respectively. A retrospective chart review was performed in 2012 on 500 CPSP referrals at the University of California, San Diego Thornton Hospital. Data were collected prior to and after the introduction of cff-DNA. There was a significant increase in the number of participants who chose to pursue additional testing and a decrease in the number of invasive procedures performed after cff-DNA screening was available. We conclude that as fetal aneuploidy screening improves, the number of invasive procedures will continue to decrease.

Patterns of neuronal activation in the rat brain and spinal cord in response to increasing durations of restraint stress.

By most accounts the psychological stressor restraint produces a distinct pattern of neuronal activation in the brain. However, some evidence is incongruous with this pattern, leading us to propose that the restraint-induced pattern in the central nervous system might depend on the duration of restraint used. We therefore determined the pattern of neuronal activation (as indicated by the presence of Fos protein) seen in the paraventricular nucleus (PVN), bed nucleus of the stria terminalis, amygdala, locus coeruleus, nucleus tractus solitarius (NTS), ventrolateral medulla (VLM) and thoracic spinal cord of the rat in response to 0, 15, 30 or 60 min periods of restraint. We found that although a number of cell groups displayed a linear increase in activity with increasing durations of restraint (e.g. hypothalamic corticotrophin-releasing factor (CRF) cells, medial amygdala neurons and sympathetic preganglionic neurons of the thoracic spinal cord), a number of cell groups did not. For example, in the central amygdala restraint produced both a decrease in CRF cell activity and an increase in non-CRF cell activity. In the locus coeruleus, noradrenergic neurons did not display Fos in response to 15 min of restraint, but were significantly activated by 30 or 60 min restraint. After 30 or 60 min restraint a greater degree of activation of more rostral A1 noradrenergic neurons was observed compared with the pattern of A1 noradrenergic neurons in response to 15 min restraint. The results of this study demonstrate that restraint stress duration determines the amount and the pattern of neuronal activation seen in response to this psychological stressor.