The helminth-derived peptide, FhHDM-1, reverses the trained phenotype of NOD bone-marrow-derived macrophages and regulates proinflammatory responses.

We implicate a phenotype of trained immunity in bone-marrow-derived macrophages in the onset and progression of type 1 diabetes in nonobese diabetic mice. Treatment with FhHDM-1 reversed immune training, reducing histone methylation and glycolysis, and decreasing proinflammatory cytokine production to the same level as macrophages from nondiabetic immune-competent BALB/c mice.

In the Eye of Transformer: Global-Local Correlation for Egocentric Gaze Estimation and Beyond.

Predicting human's gaze from egocentric videos serves as a critical role for human intention understanding in daily activities. In this paper, we present the first transformer-based model to address the challenging problem of egocentric gaze estimation. We observe that the connection between the global scene context and local visual information is vital for localizing the gaze fixation from egocentric video frames. To this end, we design the transformer encoder to embed the global context as one additional visual token and further propose a novel global-local correlation module to explicitly model the correlation of the global token and each local token. We validate our model on two egocentric video datasets - EGTEA Gaze + and Ego4D. Our detailed ablation studies demonstrate the benefits of our method. In addition, our approach exceeds the previous state-of-the-art model by a large margin. We also apply our model to a novel gaze saccade/fixation prediction task and the traditional action recognition problem. The consistent gains suggest the strong generalization capability of our model. We also provide additional visualizations to support our claim that global-local correlation serves a key representation for predicting gaze fixation from egocentric videos. More details can be found in our website (https://bolinlai.github.io/GLC-EgoGazeEst).

Late-forming supernumerary teeth: A case series.

The aim of this case series was to illustrate the development of late-forming supernumerary teeth (LFST) and highlight the implications for orthodontic treatment. There are limited studies relating to the aetiology, prevalence and treatment of LFST and the cases presented here demonstrate the management of LFST within a tertiary care centre. Five cases are presented, which show various presentations and chronological ages in the development of LFST. This case series emphasises the significance of maintaining a low threshold for suspecting LFST in patients where supernumerary teeth have previously been identified. It also highlights the importance of regular clinical and radiographic reviews. Timely identification can help prevent complications and optimise treatment outcomes.

Adult orthodontic patients: What is important to them?

OBJECTIVE: To understand patients' motivations for pursuing treatment, to appreciate what information patients seek and to explore potential factors affecting decision making in adults considering, undergoing or who have had orthodontic treatment in the private sector. DESIGN: Cross-sectional questionnaire study. SETTING: Online questionnaire. PARTICIPANTS: A total of 209 (83% women, 16% men, 1% preferred not to say) completed responses were received. METHODS: Once piloted, the final survey was made available online to adults in the United Kingdom (UK) and Republic of Ireland (RoI) who were either considering having orthodontic treatment, currently undergoing treatment or had recently completed treatment in the private sector. RESULTS: The most commonly selected motivating factor was to 'improve the appearance of my teeth' (82%). The information sought related predominantly to treatment duration (64%), potential end results (56%), types of appliances that were available (55%) and cost (52%). The two most commonly reported social factors that had influenced participants to consider treatment were 'seeing myself on social media' (31%) and 'it is more socially acceptable to have braces' (31%). CONCLUSION: While this area remains relatively underexplored in the literature, it is crucial to develop a comprehensive understanding due to the increasing number of adults seeking orthodontic treatment. This study not only reinforces the existing knowledge regarding adults seeking orthodontic treatment, such as the predominant role of aesthetics as a motivating factor, but also introduces some novel insights. Specifically, we highlight the influence of social factors on decision-making processes and the importance of effectively communicating the duration of treatment to patients.

Postgraduate student perceptions of face-to-face and distance education in orthodontics: A cross-sectional qualitative study.

OBJECTIVE: To investigate postgraduate student perceptions of face-to-face and distance education on a three-year programme in orthodontics. DESIGN: Cross-sectional qualitative study. SETTING: UCL Eastman Dental Institute, London. PARTICIPANTS: A total of 25 current postgraduate orthodontic students in the first, second and third years of training were included in this study. METHODS: Postgraduate student perceptions were obtained by conducting online focus groups on Zoom Video Communications Inc. A focus group topic guide was developed, and a facilitator was trained to host the focus groups. There were separate focus groups for each year group, with a maximum of five participants in each group. The focus groups were audio recorded and transcribed verbatim. The transcripts were assessed by all members of the research team and analysed using a thematic content analysis, with a framework approach to identify themes and subthemes regarding perceptions of distance and face-to-face education. RESULTS: A total of 25 students participated. Six key themes were identified relating to student perceptions of face-to-face and distance education: (1) social support network; (2) technology; (3) learning experience; (4) education environment; (5) interpersonal interactions; and (6) effective teaching/learning. There were perceived benefits and drawbacks for both modes of teaching delivery. In particular, students highlighted the importance of reliable technology, peer support and accessibility of educational resources for their academic learning. Students favoured a blended approach to learning where practical skills were taught in person and some theoretical aspects taught remotely. CONCLUSION: The results aid the understanding of how educational tools and digital technology can enrich the student academic experience. The results provide important information for the future development and delivery of orthodontic postgraduate education.

Fifteen-minute consultation: a structured approach to the child with primary amenorrhea.

Puberty is a life-changing time in the life of a young person, with physical, psychological and social considerations. Amenorrhea is derived from Latin: a-'not', men-'month' and rhein-'flow', meaning absence of monthly flow. In medical terms, it is a symptom describing absence of menstruation. It can be classified as either primary or secondary. This article will focus solely on primary amenorrhea. Primary amenorrhea can induce great anxiety in both the patient and the family and often presents to the general paediatrician. A thorough history and examination and judicious use of investigations is crucial to ensure timely diagnosis and management.

Patient, clinician and independent observer perspectives of shared decision making in adult orthodontics.

OBJECTIVES: To investigate and compare the extent of shared decision making (SDM) in orthodontics from the perspective of patients, clinicians and independent observers. DESIGN: A cross-sectional, observational study. SETTING: NHS teaching hospital. PARTICIPANTS: A total of 31 adult patients and their treating clinicians were included in the study. METHODS: The extent of SDM in new patient orthodontic consultations was measured using three versions of a validated instrument: the self-administered patient dyadic-OPTION scale; the self-administered clinician dyadic-OPTION scale; and an independent observer-rated OPTION12 scale. Patients and clinicians completed the 12-item dyadic-OPTION questionnaire independently at the end of the consultation to rate their perceived levels of SDM. The consultations were also audio-recorded and two calibrated raters independently rated the extent of SDM in these consultations using the OPTION12 scale. RESULTS: There was excellent inter-rater reliability between the two independent raters using the OPTION12 scale (intraclass correlation coefficient (ICC) = 0.909). The mean patient, clinician and independent observer OPTION scores for SDM were 90.4% (SD 9.1%, range 70.8% to 100%), 76.2% (SD 8.95%, range 62.5% to 95.8%) and 42.6% (SD 17.4%, range 13.5% to 68.8%), respectively. There was no significant correlation between the OPTION scores for the three groups (ICC = -0.323). CONCLUSIONS: The results showed that generally high levels of SDM were perceived by patients and clinicians but lower levels of SDM were scored by the independent observers. However, it could be argued that the patient's perception of SDM is the most important measure as it is their care that is affected by their involvement.

Knowledge of, and attitudes to, shared decision-making in orthodontics in the UK.

OBJECTIVE: To establish UK orthodontic treatment providers' knowledge of, and attitudes to, shared decision-making (SDM). SDM involves patients as equal partners in decisions about treatment. DESIGN: Cross-sectional survey. SETTING: Online survey across the UK. POPULATION: Dentists and orthodontists providing orthodontic treatment in the UK. METHODS: Potential participants were contacted through the British Orthodontic Society mailing lists. An online survey was developed to examine knowledge of, and attitudes to, SDM using a combination of evidence-based statements and free text boxes. Questions regarding previous training in SDM and preferences for further training were also included. RESULTS: The survey was completed by 210 respondents, yielding an approximate response rate of 15%. Respondents were mainly consultants (34%) and specialist orthodontists (42%). SDM was well described in terms of the people involved in this process, how it is approached, the components and topics of discussion, and the overall purpose of SDM. Generally, there was consistency in attitudinal responses, with the largest variance in responses to questions about the professional-patient partnership, the interface between SDM and clinical guidelines, and accepting a decision that is discordant with the professional's opinion. Fifty-one respondents reported having some previous teaching/training in SDM, with the majority (87%) indicating that they would like more training. CONCLUSION: Clinicians providing orthodontic treatment in the UK have a good understanding of the meaning of shared decision-making. Concerns raised about using SDM and knowledge gaps suggest there is value in providing SDM training for the orthodontic team and that orthodontic providers would welcome it.

Investigating perceptions of patient-centred care in orthodontics.

OBJECTIVES: To assess and compare patient and clinician perceptions of patient-centredness for adults about to commence active orthodontic treatment, and to assess whether the following variables affected perceptions of patient-centredness: patient gender and age; clinician gender and grade; and stage of treatment. DESIGN: A prospective, cross-sectional questionnaire study. SETTING: Eastman Dental Hospital, UCLH NHS Foundation Trust. PARTICIPANTS: A total of 112 adult patients and 30 clinicians completed 224 questionnaires (112 patient and 112 clinician questionnaires). METHODS: A validated, dyadic questionnaire, the '9-Item Patient Perception of Patient-Centredness' (PPPC), was used to collect data from both patients and their corresponding clinicians after initial assessment or records/treatment planning consultations. Total PPPC scores (possible score range = 9-36) were calculated for each patient and clinician to ascertain the extent to which they perceived they were engaging in patient-centredness, where higher scores corresponded with better performance. RESULTS: Patients and clinicians perceived high engagement in patient-centredness with median scores of 32/36 and 29/36, respectively. There was a statistically significant difference between total scores with patients perceiving consultations to be more patient-centred than clinicians (P < 0.001). None of the variables (patient gender and age, clinician gender and grade, stage of treatment) were statistically significant. CONCLUSION: Patients and clinicians both perceived high engagement in patient-centredness. Patients perceived consultations to be significantly more patient-centred than clinicians (P < 0.001).

Natriuretic peptide-guided treatment for the prevention of cardiovascular events in patients without heart failure.

BACKGROUND: Cardiovascular disease (CVD) is the leading cause of morbidity and mortality globally. Early intervention for those with high cardiovascular risk is crucial in improving patient outcomes. Traditional prevention strategies for CVD have focused on conventional risk factors, such as overweight, dyslipidaemia, diabetes, and hypertension, which may reflect the potential for cardiovascular insult. Natriuretic peptides (NPs), including B-type natriuretic peptide (BNP) and N-terminal pro B-type natriuretic peptide (NT-proBNP), are well-established biomarkers for the detection and diagnostic evaluation of heart failure. They are of interest for CVD prevention because they are secreted by the heart as a protective response to cardiovascular stress, strain, and damage. Therefore, measuring NP levels in patients without heart failure may be valuable for risk stratification, to identify those at highest risk of CVD who would benefit most from intensive risk reduction measures. OBJECTIVES: To assess the effects of natriuretic peptide (NP)-guided treatment for people with cardiovascular risk factors and without heart failure. SEARCH METHODS: Searches of the following bibliographic databases were conducted up to 9 July 2019: CENTRAL, MEDLINE, Embase, and Web of Science. Three clinical trial registries were also searched in July 2019. SELECTION CRITERIA: We included randomised controlled trials enrolling adults with one or more cardiovascular risk factors and without heart failure, which compared NP-based screening and subsequent NP-guided treatment versus standard care in all settings (i.e. community, hospital). DATA COLLECTION AND ANALYSIS: Two review authors independently screened titles and abstracts and selected studies for inclusion, extracted data, and evaluated risk of bias. Risk ratios (RRs) were calculated for dichotomous data, and mean differences (MDs) with 95% confidence intervals (CIs) were calculated for continuous data. We contacted trial authors to obtain missing data and to verify crucial study characteristics. Using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach, two review authors independently assessed the quality of the evidence and GRADE profiler (GRADEPRO) was used to import data from Review Manager to create a 'Summary of findings' table. MAIN RESULTS: We included two randomised controlled trials (three reports) with 1674 participants, with mean age between 64.1 and 67.8 years. Follow-up ranged from 2 years to mean 4.3 years.For primary outcome measures, effect estimates from a single study showed uncertainty for the effect of NP-guided treatment on cardiovascular mortality in patients with cardiovascular risk factors and without heart failure (RR 0.33, 95% CI 0.04 to 3.17; 1 study; 300 participants; low-quality evidence). Pooled analysis demonstrated that in comparison to standard care, NP-guided treatment probably reduces the risk of cardiovascular hospitalisation (RR 0.52, 95% CI 0.40 to 0.68; 2 studies; 1674 participants; moderate-quality evidence). This corresponds to a risk of 163 per 1000 in the control group and 85 (95% CI 65 to 111) per 1000 in the NP-guided treatment group.When secondary outcome measures were evaluated, evidence from a pooled analysis showed uncertainty for the effect of NP-guided treatment on all-cause mortality (RR 0.90, 95% CI 0.60 to 1.35; 2 studies; 1354 participants; low-quality evidence). Pooled analysis indicates that NP-guided treatment probably reduces the risk of all-cause hospitalisation (RR 0.83, 95% CI 0.75 to 0.92; 2 studies; 1354 participants; moderate-quality evidence). This corresponds to a risk of 601 per 1000 in the control group and 499 (95% CI 457 to 553) per 1000 in the NP-guided treatment group. The effect estimate from a single study indicates that NP-guided treatment reduced the risk of ventricular dysfunction (RR 0.61, 95% CI 0.41 to 0.91; 1374 participants; high-quality evidence). The risk in this study's control group was 87 per 1000, compared with 53 (95% CI 36 to 79) per 1000 with NP-guided treatment. Results from the same study show that NP-guided treatment does not affect change in NP level at the end of follow-up, relative to standard care (MD -4.06 pg/mL, 95% CI -15.07 to 6.95; 1 study; 1374 participants; moderate-quality evidence). AUTHORS' CONCLUSIONS: This review shows that NP-guided treatment is likely to reduce ventricular dysfunction and cardiovascular and all-cause hospitalisation for patients who have cardiovascular risk factors and who do not have heart failure. Effects on mortality and natriuretic peptide levels are less certain. Neither of the included studies were powered to evaluate mortality. Available evidence shows uncertainty regarding the effects of NP-guided treatment on both cardiovascular mortality and all-cause mortality; very low event numbers resulted in a high degree of imprecision in these effect estimates. Evidence also shows that NP-guided treatment may not affect NP level at the end of follow-up.As both trials included in our review were pragmatic studies, non-blinding of patients and practices may have biased results towards a finding of equivalence. Further studies with more adequately powered sample sizes and longer duration of follow-up are required to evaluate the effect of NP-guided treatment on mortality. As two trials are ongoing, one of which is a large multi-centre trial, it is hoped that future iterations of this review will benefit from larger sample sizes across a wider geographical area.

Cognitive behavioural therapy stabilises glycaemic control in adolescents with type 1 diabetes-Outcomes from a randomised control trial.

BACKGROUND: To compare the impact of cognitive behavioural therapy (CBT) with non-directive supportive counselling (NDC) on glycaemic control and psychological well-being in adolescents with type 1 diabetes mellitus (T1DM). MATERIALS AND METHODS: Participants aged 11 to 16 years with T1DM (duration ≥1 year) from 4 UK-based paediatric diabetes centres were randomised to receive either 6 weekly sessions of 1-to-1 CBT (n = 43) or NDC (n = 42), with 2 further sessions at 6 and 12 months. Follow-up continued for 12 months postintervention. Outcome measures included glycated haemoglobin A1c (HbA1c) and psychological scores. RESULTS: The HbA1c levels were available in 33 patients in each group for analysis. Between group difference of the overall changes in HbA1c across the study period was statically significant (P = .018). Geometric mean (range) HbA1c in the NDC group deteriorated from 68 (46-113) to 78 (48-128) mmol/mol (ie, 8.4 [6.4-12.5]% to 9.3 [6.5-13.9]%; P = .001), but was maintained in the CBT group from 72 (46-129) to 73 (51-128) mmol/mol (P = .51) (ie, 8.7 [6.4-14]% to 8.9 [6.8-13.9]%). More patients who have undergone CBT showed an improved or maintained HbA1c levels at 24 months (62.5% vs 35.5%, P = .032). Patients offered CBT with depressive scores in the lowest tertile (least depressive symptoms) showed improvement in HbA1c over time from 70 (46-102) to 67 (57-87) mmol/mol (P = .041) (ie, 8.6 [6.4-11.5]% to 8.3 [7.4-10.1]%), but not in the NDC group. The CBT showed borderline improvements in Children's Health Locus of Control (internal) scores over time compared with NDC (P = .05). The self-efficacy score showed significant improvement in both CBT (P < .001) and NDC (P = .03) groups over time. CONCLUSIONS: CBT demonstrated better maintenance of glycaemic control compared with NDC.

A national measles outbreak in Ireland linked to a single imported case, April to September, 2016.

Endemic measles transmission was interrupted for the first time in Ireland in 2015. In May 2016, a case of measles was confirmed in an adult who had travelled from Hungary to Ireland (index case). Cases subsequently arose in five of the eight public health regions around the country. There were 40 confirmed cases in Ireland between April and September 2016. All sequenced cases were genotype B3. Vaccination status was known for 34 cases, of whom 31 were unvaccinated. Median age was 8 years (range: 3 months to 40 years). Ten cases were nosocomial, and three cases were infected on separate international flights. One linked case occurred in a resident of Slovenia. Nineteen cases were hospitalised; median duration of hospitalisation was 5 days (range: 2-8 days). The primary case was a child who travelled from Romania to Ireland via Budapest, and infected the index adult case on the same flight. This was the first reported outbreak of measles genotype B3 in Ireland. This outbreak demonstrated that Ireland remains at risk of measles outbreaks due to persistent suboptimal vaccination rates.

Factors influencing satisfaction with the process of orthodontic treatment in adult patients.

INTRODUCTION: Despite the increases in adults undergoing orthodontic treatment in both the public and private sectors, satisfaction with the treatment process has not been widely explored. In this study, we investigated factors influencing satisfaction with the process of orthodontic treatment in adult patients. METHODS: This was a prospective cross-sectional qualitative study. Participants were adults who had completed orthodontic treatment with fixed appliances and were recruited from 2 sites (a National Health Service public sector teaching hospital and a private specialist practice). Data were collected using in-depth interviews, and a content thematic analysis with a framework approach was used to analyze the data. RESULTS: A total of 26 adults were recruited (13 at each site). Five main themes were identified relating to patient satisfaction with the process of treatment: communication, staff, physical environment, appointments, and impact of appliance treatment. Effective communication was a dominant theme, particularly relating to explanations during treatment and making patients feel involved in their own care. CONCLUSIONS: In general, adult orthodontic patients were satisfied with the process of treatment, and good communication played a major part in this. Despite the differences in working models in the public and private sectors, many similarities arose when comparing the factors between the 2 sites.

Randomized controlled trial of a patient decision-making aid for orthodontics.

INTRODUCTION: Patient decision-making aids (PDAs) are instruments that facilitate shared decision making and enable patients to reach informed, individual decisions regarding health care. The objective of this study was to assess the efficacy of a PDA compared with traditional information provision for adolescent patients considering fixed appliance orthodontic treatment. METHODS: Before treatment, orthodontic patients were randomly allocated into 2 groups: the intervention group received the PDA and standard information regarding fixed appliances, and the control group received the standard information only. Decisional conflict was measured using the Decisional Conflict Scale, and the levels of decisional conflict were compared between the 2 groups. RESULTS: Seventy-two patients were recruited and randomized in a ratio of 1:1 to the PDA and control groups. Seventy-one patients completed the trial (control group, 36; PDA group, 35); this satisfied the sample size calculation. The median total Decisional Conflict Scale score in the PDA group was lower than in the control group (15.63 and 19.53, respectively). However, this difference was not statistically significant (difference between groups, 3.90; 95% confidence interval of the difference, -4.30 to 12.11). Sex, ethnicity, age, and the time point at which patients were recruited did not have significant effects on Decisional Conflict Scale scores. No harm was observed or reported for any participant in the study. CONCLUSIONS: The results of this study showed that the provision of a PDA to adolescents before they consented for fixed appliances did not significantly reduce decisional conflict. There may be a benefit in providing a PDA for some patients, but it is not yet possible to say how these patients could be identified. REGISTRATION: This trial was registered with the Harrow National Research Ethics Committee (reference 12/LO/0279). PROTOCOL: The protocol was not published before trial commencement.

Early treatment of class III malocclusion with facemask.

Data sourcesThe Cochrane Central Register of Controlled Trials, Cochrane Database of Systematic Reviews, Embase, Medline and the ClinicalTrials.gov databases.Study selectionRandomised controlled trials (RCTs) and controlled clinical trials (CCTs) of children aged 7-12 years with class III malocclusion undergoing fixed or removable orthodontic treatment for early correction were included.Data extraction and synthesisTwo reviewers independently selected studies, abstracted data and assessed risk of bias. The Cochrane risk of bias tool was used for RCTs and the Downs and Black and the Newcastle-Ottawa scales for CCTs. The primary outcome was correction of reverse overjet. Mean differences (MD) with 95% confidence intervals were calculated and a random effects meta-analysis conducted.ResultsFifteen studies (nine RCTs, six CCTs) were included. Only three of the RCTs were considered to be at low risk of bias, all six CCTs were at high risk of bias.Three RCTs (141 patients) compared protraction facemask and untreated control. The results for reverse overjet (MD = 2.5 mm; 95% CI, 1.21-3.79) and ANB angle (MD = 3.90˚; 95% CI, 3.54-4.25) were statistically significant favouring the facemask group. All CCTs demonstrated a statistically significant benefit in favour of the use of each appliance. However, the studies had high risk of bias.ConclusionsThere is a moderate amount of evidence to show that early treatment with a facemask results in positive improvement for both skeletal and dental effects in the short term. However, there was lack of evidence on long-term benefits. There is some evidence with regard to the chincup, tandem traction bow appliance and removable mandibular retractor, but the studies had a high risk of bias. Further high-quality, long-term studies are required to evaluate the early treatment effects for Class III malocclusion patients.

An ongoing measles outbreak linked to a suspected imported case, Ireland, April to June 2016.

We report an outbreak of measles which started in April 2016 and which, by 13 June, has resulted in 22 confirmed and five probable measles cases occurring in four regions of Ireland. Genotype B3 was identified. We describe the identification, ongoing investigation and control measures being implemented. This outbreak occurs during a period of very low measles transmission in Ireland, with only one confirmed case (imported) notified in 2016 before this event.

Preparedness of Hospitals in the Republic of Ireland for an Influenza Pandemic, an Infection Control Perspective.

BACKGROUND: When an influenza pandemic occurs most of the population is susceptible and attack rates can range as high as 40-50 %. The most important failure in pandemic planning is the lack of standards or guidelines regarding what it means to be 'prepared'. The aim of this study was to assess the preparedness of acute hospitals in the Republic of Ireland for an influenza pandemic from an infection control perspective. METHODS: This was a cross sectional study involving a questionnaire completed by infection control nurses, time period from June - July 2013, (3 weeks) from acute public and private hospitals in the Republic of Ireland. A total of 46 out of 56 hospitals responded to the questionnaire. RESULTS: From a sample of 46 Irish hospitals, it was found that Irish hospitals are not fully prepared for an influenza pandemic despite the 2009 Influenza A (H1N1) pandemic. In 2013, thirty five per cent of Irish hospitals have participated in an emergency plan or infectious disease exercise and have plans or been involved in local planning efforts to care for patients at non-health care facilities. Sixty per cent of Irish hospitals did not compile or did not know if the hospital had compiled a "lessons learned" from any exercise that were then used to revise emergency response plans. Fifty two per cent of hospitals have sufficient airborne isolation capacity to address routine needs and have an interim emergency plan to address needs during an outbreak. Fifty one percent of hospitals have taken specific measures to stockpile or have reserve medical supplies e.g. masks, ventilators and linen. CONCLUSIONS: This is the first study carried out in the Republic of Ireland investigating the current preparedness for an influenza pandemic from an infection control perspective. Deficits exist in the provision of emergency planning committees, testing of emergency plans, airborne isolation facilities, stockpiling of personal protective equipment (PPE) and medical supplies and organisational schemes/incentives for healthcare workers to continue to work in a pandemic. While Irish standards are comparable to findings from international studies, the health care service needs to continue to enhance preparedness for an influenza pandemic and implement standard preparedness guidance for all Irish hospitals.

Hereditary vitamin D-resistant rickets presenting as alopecia.

Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene. We report the case of an infant presenting with alopecia, growth failure, and gross motor developmental delay. Serum biochemistry and skeletal survey were consistent with rickets. After a poor response to standard treatment, genetic testing confirmed a c.147-2A>T novel mutation in the VDR gene consistent with HVDRR. It is important for dermatologists and pediatricians to recognize alopecia as a presenting sign of HVDRR because appropriate treatment leads to better growth and development of the child.

Management of iron deficiency in women of childbearing age with oral iron intolerance: a prospective, randomised, controlled trial of three doses of an iron-whey-protein formulation : Prospective RandomisEd study of women of Childbearing age with gastroInteStinal Intolerance to Oral iroN (PRECISION).

BACKGROUND: Nutritional deficit and oral iron gastrointestinal intolerance may be a common cause of iron deficiency, which can be managed by pharmacists. AIM: To understand the prevalence of iron deficiency in women of childbearing age with a self-reported history of intolerance to oral iron and the tolerability of three doses of an iron-whey-protein formulation in the care of these women. METHOD: Ferritin and haemoglobin levels were documented in women of childbearing age with oral iron gastrointestinal intolerance. In those with iron deficiency (ferritin < 30 µg/L), adherence, gastrointestinal tolerability, ferritin, transferrin saturation and haemoglobin levels were compared between their prior oral iron product and iron-whey-protein microspheres randomised to three doses (14 mg daily, 25 mg daily and 50 mg daily) for 12 weeks. RESULTS: Most screened women had low iron stores (128 (62.7%); ferritin < 30 µg/L), 65 (31.9%) had moderate to severe iron deficiency (ferritin < 12 µg/L) and 33 (16.2%) had iron deficiency anaemia (ferritin < 30 µg/L, haemoglobin < 12 g/dL). Amongst the 59 women who participated in the prospective clinical study of iron-whey-protein microspheres over 12 weeks, 48 (81.4%) were classified as adherent/persistent and fewer instances of gastrointestinal intolerance were reported (0.59 ± 0.91) when compared to 12 (20.3%) and (4.0 ± 2.2) respectively while taking the prior oral iron (Fisher's Exact and T-test respectively, both p < 0.001). There was no difference in adherence or tolerability of different iron-whey-protein formulation doses. Ferritin, haemoglobin and energy levels increased significantly over 12 weeks. CONCLUSION: Undiagnosed iron deficiency is common in women of childbearing age with a history of intolerance to oral iron and iron-whey-protein microspheres can improve adherence, GI tolerability, iron stores, haemoglobin and energy levels in these women. CLINICAL TRIAL REGISTRATION: Clinicaltrials.gov identifier (registration includes full trial protocol): NCT04778072.

National service evaluation of the quality of care for children and young people with congenital adrenal hyperplasia in the United Kingdom: survey responses from patients and clinicians.

INTRODUCTION: Quantifying differences in service provision for children and young people (CYP) living with Congenital Adrenal Hyperplasia (CAH) across the United Kingdom. METHODS: A national service evaluation using online questionnaires circulated to patients and clinicians from secondary and tertiary UK centres managing CYP with CAH, and via the "Living with CAH" support group mailing list. RESULTS: Total of 195 responses relating to patients aged 0-20 years attending 33 clinics (43 patients, 152 carers), as well as 34 clinicians from 18 trusts working across the 33 clinics. Only 12% of clinicians were 'completely satisfied' with the service provided, compared to 68% of carers and 76% of patients. Whilst 94% of clinicians reported providing formal training to families with CAH, over 80% of both patients and carers reported not attending what they considered formal training. Appetite for further training was higher in carers (86%) than patients (55%), although further 'unsure' responses suggested formal training sessions would likely be well attended. Access to psychological services was difficult for 44% of clinicians. Biochemical monitoring of treatment was broadly in keeping with international guidelines, with 67% of clinicians reporting regular use of dried blood spots, and 12% regular urinary steroid metabolites. CONCLUSION: While there is overall good satisfaction with care provision among patients and carers with CAH in the UK, extra resources addressing the psychological and educational needs about the disease and its management would benefit patients and carers. Improved access to allied health professionals and psychologists will help support families and improve patient outcomes.