Dental agenesis is one of the most common developmental anomalies in humans, characterised by the developmental absence of one or more teeth. It can present as an isolated condition (non-syndromic hypodontia) or associated with a syndrome (syndromic hypodontia). This paper aims to review the genetic basis of hypodontia with reference to aetiology, classification and the subsequent clinical features.Significant progress has been made to identify the developmental basis of tooth formation, though there is still a lack of knowledge within the literature of the aetiological basis of inherited tooth loss.Gene anomalies or mutations in WNT10A, MSX1, PAX9, AXIN2 and EDA appear to be most critical during tooth development, leading to various forms of tooth agenesis.

Key content Tuberculosis (TB) is an important global cause of maternal and neonatal morbidity and mortality. With increasing migration, cases of tuberculosis in pregnancy or the puerperium are increasing in resource‐rich nations with advanced health care systems. Diagnosis may be delayed given the overlap of some of the symptoms with that of pregnancy. Timely diagnosis is essential to initiate appropriate treatment and prevent maternal and neonatal morbidity and mortality. Learning objectives To understand the relevant global and UK epidemiology of the disease, including recent goals set by the World Health Organization and the UK. To review the pathophysiology of pulmonary and extrapulmonary TB, and of latent and active TB. To learn how to identify high‐risk women for antenatal assessment and gain an awareness of the screening tests available for latent TB. To gain awareness of the clinical symptoms, diagnosis and therapeutic management of active tuberculosis, including management of any drug resistance. To understand management of the neonate within high‐risk groups and where the mothers have diagnosed latent or active TB. Ethical issues Pregnant women with TB should be fully counselled about the benefits, risks, and alternate options of management. Should healthcare professionals with high risk of acquiring TB infection be exempt from managing TB infection? Management of TB in HIV‐positive women provides additional challenges. Breastfeeding issues around seropositive mothers should be considered.

Abstract Study question Do dietary and/or physical activity interventions prior to fertility treatment improve live birth rates in women with overweight or obesity? Summary answer Dietary and/or physical activity interventions prior to fertility treatment do not significantly increase live birth rates in women with overweight or obesity. What is known already Existing guidelines recommend lifestyle interventions based on dietary and/or physical activity targeting at a 5 to 10% reduction in body weight as an initial step prior to fertility treatment for women with infertility and overweight or obesity. However, the evidence underlying this recommendation is limited and findings from recent randomized controlled trials (RCTs) are inconsistent. Individual participant data meta-analysis (IPDMA) has been considered the “gold standard” for evidence synthesis. Study design, size, duration We performed an IPDMA of RCTs comparing dietary and/or physical activity interventions as core interventions prior to fertility treatment versus standard advice concerning a healthy diet and physical activity, routine care or no intervention. We searched MEDLINE, EMBASE and Cochrane Central Register of Controlled Trials up to September 2022 to identify potential eligible RCTs. Participants/materials, setting, methods After identifying eligible RCTs in women with infertility and overweight or obesity (BMI ≥ 25 kg/m2), we contacted the investigators of eligible RCTs to share the deidentified IPD and established the Venus-IPD Collaboration. The primary outcome was live birth. Secondary outcomes included weight loss and other fertility outcomes. We performed a two-stage random-effects IPDMA as the primary analysis. Main results and the role of chance Of 14 eligible RCTs, as of January 2023 we obtained IPD of 9 RCTs with 1715 participants (916 in the intervention group and 799 in the control group). The mean female age was 30.7 years (standard deviation 4.5) and the median baseline BMI was 34.8 kg/m2 (Interquartile range 32.4 to 38.5). The duration of the diet/physical activity interventions ranged from 2.5 to 6 months. Physical activity and/or dietary interventions prior to fertility treatment resulted in more weight reduction compared to those in the control group (9 RCTs, 1715 participants, mean difference –5.71 kg, 95%CI –7.76 to –3.66). The intervention group did not have a significantly higher rate of live birth (8 RCTs, 1697 participants, OR 1.30, 95%CI 0.74 to 2.27, I2=60%) or clinical pregnancy (8 RCTs, 1697 participants, OR 1.22, 95%CI 0.81 to 1.83, I2=28%). The asymmetrical contour-enhanced funnel plot indicates possible small-study effects. Limitations, reasons for caution Blinding was not possible due to the nature of the intervention. IPD of three small RCTs are not obtained at this time. The heterogeneity in the type and period for lifestyle interventions and in the follow-up duration was moderate to high. Wider implications of the findings Dietary and/or physical activity interventions are effective in reducing body weight in women with overweight or obesity, but such a benefit in weight loss may not translate to improved live birth rates. Trial registration number CRD42021266201

In-vitro fertilisation (IVF) and intra-cytoplasmatic sperm injection (ICSI) are available in Scotland through the National Health Service (NHS) according to specific criteria. There is no standardised NHS tariff for these treatments in Scotland, and variation exists amongst different centres providing NHS services. The aim of this study was to calculate the mean cost of IVF and ICSI cycles for NHS-funded treatment in Scotland. A detailed cost analysis of fresh and frozen cycles was performed, and a breakdown of the various cost components was presented. A deterministic approach was applied using NHS-funded individual cycle data from 2015–2018 and aggregate data. All costs were calculated in UK pounds sterling (£- using 2018 prices). Resource use was assigned to individual cycles based on cycle-level data or expert-informed assumptions; whenever needed, average aggregate costs were assigned to cycles. A total of 9442 NHS-funded cycles were included in the analysis. The average cost of fresh IVF and ICSI cycles was £3247 [£1526–£4215] and £3473 [£1526–£4416], respectively. Frozen cycles averaged £938 [£272–£1085]. This data can be useful to decision-makers, especially where IVF/ICSI is publicly funded, as it delivers a detailed IVF/ICSI cost breakdown. It is an opportunity for other authorities to estimate IVF/ICSI costs, as the methods applied are clear and reproducible.

At the start of a new community perinatal mental health service in Scotland we sought the opinions and aspirations of professional and lay stakeholders. A student elective project supported the creation of an anonymous 360-degree online survey of a variety of staff and people with lived experience of suffering from or managing perinatal mental health problems. The survey was designed and piloted with trainees and volunteer patients. A rich variety of opinions was gathered from the 60 responses, which came from a reasonably representative sample. Respondents provided specific answers to key questions and wrote free-text recommendations and concerns to inform service development. There is clear demand for the new expanded service, with strong support for provision of a mother and baby unit in the North of Scotland. The digital survey method could be adapted to generate future surveys to review satisfaction with service development and generate ideas for further change.

Are the early pregnancy outcomes of IVF pregnancies conceived with donor sperm different to those conceived with partner sperm? Pregnancies conceived with donor sperm have a lower odds of early pregnancy loss and ectopic pregnancy compared to pregnancies conceived with partner sperm. The number of cycles using donor sperm has risen significantly in recent years. Adverse early pregnancy outcomes have a negative impact on women and their partners. The evidence available to date regarding early pregnancy outcomes for pregnancies conceived with IVF donor sperm is limited by low numbers and lower-quality studies. This is a retrospective cohort study of 1376454 cycles conceived with either donor or partner sperm between 1991 and 2016 as recorded in the Human Fertilisation and Embryology Authority (HFEA) Register. The HFEA has recorded data on all fertility treatments carried out in the UK from 1991 onwards, and it publishes this data in an anonymized form. This study assessed the outcomes of all pregnancies conceived with donor sperm and compared them to those conceived with partner sperm among IVF cycles recorded in the HFEA anonymized dataset from 1991 to 2016. Cycles that included intrauterine insemination, donor oocytes, preimplantation genetic testing, oocyte thaw cycles and alternative fertility treatments were excluded. The outcomes of interest were biochemical pregnancy, miscarriage, ectopic pregnancy, stillbirth and live birth. Logistic regression was used to adjust for confounding factors including age of the female partner, cause of infertility, history of previous pregnancy, fresh or frozen cycle, IVF or ICSI, number of embryos transferred, and year of treatment. Results are reported as adjusted odds ratios (aOR) and 95% CIs. This study found reductions in the odds of biochemical pregnancy (aOR 0.82, 95% CI 0.78-0.86), miscarriage (aOR 0.93, 95% CI 0.89-0.97), and ectopic pregnancy (aOR 0.77, 95% CI 0.66-0.90) among pregnancies as a result of the use of donor sperm as opposed to partner sperm. This study is retrospective and limited by the constraints of routinely collected data. No data were available for maternal characteristics such as BMI, smoking and partner age, which could all be potential confounders. Clustering of multiple pregnancies within women could not be accounted for as the data are reported only at the cycle level with no maternal identifiers. This study has demonstrated that there are no increased risks of adverse pregnancy outcome with donor sperm pregnancies. The reduction in miscarriage in pregnancies using donor sperm suggests that sperm could have a role in miscarriage, as the selection process for being accepted as donor is stringent. No external funding was sought for this study. C.A. has received funding from Ferring to attend a UK meeting for trainees in reproductive Medicine. A.M. has received funding from Ferring, Cook, Merck Serono, Geodon Ritcher, and Pharmasure for speaking at, or attending, meetings relating to reproductive medicine. She has also participated in a Ferring advisory board. S.B. has received grants from Tenovus and the UK Medical Research Council. She has also been supported with a Medical Research Scotland PhD studentship. N/A.

Omission of pelvic examination (PE) has been associated with diagnostic delay in women diagnosed with gynaecological cancer. However, PEs are often not carried out by GPs. To determine the perceptions of GPs about the role of PEs, the barriers to and facilitators of PEs, and GPs' experience of PEs in practice. Qualitative semi-structured interview study conducted in one health board in Scotland (mixed urban and rural) with an approximate population of 500 000. Interviews were conducted face-to-face or by telephone between March and June 2019. Framework analysis used the COM-B behaviour change model concepts of capability, opportunity, and motivation. Data was compatible with all three domains of the COM-B framework. Capability related to training in and maintenance of skills. These went beyond carrying out the examination to interpreting it reliably. Opportunity related to the clinical environment and the provision of chaperones for intimate examination. Interviewees described a range of motivations towards or against PEs that were unrelated to either capability or opportunity. These all related to providing high-quality care, but this was defined in different ways: 'doing what is best for the individual', 'doctors examine', and 'GPs as pragmatists'. GPs' reasons for carrying out, or not carrying out, PEs in women with symptoms potentially indicating cancer are complex. The COM-B framework provides a way of understanding this complexity. Interventions to increase the use of PEs, and critics of its non-use, need to consider these multiple factors.

Several scoring systems have been developed to evaluate disease severity in mucosal lichen planus, but only a few have been validated to ensure reproducible and accurate assessment of disease severity. The current systematic review was undertaken to identify clinical severity scoring systems in mucosal lichen planus that have undergone validity or reliability testing and to describe their operating characteristics. We performed a bibliographic search in five databases from their inception to October 2022 for severity scoring systems in mucosal lichen planus that have undergone validity or reliability tests. Quality assessment was conducted using the Joanna Briggs Institute Critical Appraisal tools. We have included 118 studies and identified 11 clinical severity scoring systems for oral lichen planus that have undergone validity or reliability testing. Of these, the most reported were the Thongprasom score, the Oral Disease Severity Score (ODSS) and the REU (Reticular/hyperkeratotic, Erosive/erythematous, Ulcerative) scoring systems. We did not identify clinical scoring systems for extraoral mucosal lichen planus that have undergone validity or reliability testing. The ODSS and REU scoring systems have undergone the highest number of validation attempts and reliability assessments for oral lichen planus respectively. However, we have identified numerous factors that have hampered the universal adoption of a standardised scoring system. There is a need for the development and validation of scoring systems for extraoral mucosal lichen planus.

AbstractBackgroundInduction of Labour (IOL) is an increasingly common obstetric intervention, offered to 30-50% of pregnant women in the UK. IOL affects experience of childbirth: it is more painful than spontaneous labour and more likely to lead to additional interventions including operative birth. Experience of childbirth is important to women, and negative experience of childbirth has been linked to serious psychological harm. The high and rising rate of IOL has implications for provision of safe, effective, person-centred maternity services, yet there is little information about women’s experiences of induction.AimTo explore women’s views and experiences of key elements of the IOL process, including at home or in hospital cervical ripening (CR)MethodsA questionnaire-based postnatal survey of 309 women who had IOL at UK maternity units in 2021/22, undertaken as part of the CHOICE Study process evaluation The questionnaire was administered online and included fixed response and free text options. Findings are reported as descriptive statistics with content analysis of women’s comments providing context.FindingsInformation to support choice and understand what to expect about IOL is often inadequate or unavailable. Having IOL can create anxiety and remove options for birth that women had hoped would enhance their experience. Although it can provide a more comfortable environment, home CR is not always an acceptable solution. Women described maternity care negatively impacted by staffing shortages; delays to care sometimes led to unsafe situations.Women who had a positive experience of IOL described supportive interaction with staff as a significant contribution to that.ConclusionsWomen do not experience IOL as a benign and consequence free intervention. There is urgent need for research to better target IOL and optimise safety and experience for women and their babies. Relatively few women were offered CR at home and further research is needed on this experience.

BackgroundIndividuals with familial adenomatous polyposis (FAP) harbor numerous polyps with inevitable early progression to colon cancer. Complex microbiotic-tumor microenvironment perturbations suggest a dysbiotic relationship between polyp and microbiome. In this study, we performed comprehensive analyses of stool and tissue microbiome of pediatric FAP subjects and compared with unaffected cohabiting relatives through 16S V4 region amplicon sequencing and machine learning platforms.ResultsWithin our FAP and control patient population, Firmicutes and Bacteroidetes were the predominant phyla in the tissue and stool samples, while Proteobacteria dominated the polyp/non-polyp mucosa. A decline in Faecalibacterium in polyps contrasted with a decline in Bacteroides in the FAP stool. The alpha- and beta-diversity indices differed significantly within the polyp/non-polyp groups, with a concurrent shift towards lower diversity in polyps. In a limited 3-year longitudinal study, the relative abundance of Proteobacteria and Fusobacteria was higher in polyps compared to non-polyp and stool specimens over time. Through machine learning, we discovered that Archaeon_enrichment_culture_clone_A13, Micrococcus_luteus, and Eubacterium_hallii in stool and PL-11B10, S1-80, and Blastocatellaceae in tissues were significantly different between patients with and without polyps.ConclusionsDetection of certain bacterial concentrations within stool or biopsied polyps could serve as adjuncts to current screening modalities to help identify higher-risk patients.