Establishment of a clinical network for children with amelogenesis imperfecta and dentinogenesis imperfecta in the UK: 4-year experience.

BACKGROUND: Amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) are two groups of genetically inherited conditions resulting in abnormal enamel and dentin formation, respectively. Children and young people may be adversely affected by these conditions, with significant reduction in oral health related quality of life. Dental management of children with AI and DI is often complex, which is exacerbated by the absence of clear referral pathways and scarce evidence-based guidelines. METHOD: The need for increased knowledge and peer support led to the development of a group of UK paediatric dentists with a special clinical interest in the management of children with AI and DI. PURPOSE: The aims of this paper are to describe the establishment of an AI/DI Clinical Excellence Network (AI/DI CEN) in paediatric dentistry including outputs and future plans, and to share our collective learning to help support others anywhere in the world advance the care of people with AI or DI.

Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes.

Amelogenesis imperfecta (AI) comprises a group of rare, inherited disorders with abnormal enamel formation. Ameloblastin (AMBN), the second most abundant enamel matrix protein (EMP), plays a critical role in amelogenesis. Pathogenic biallelic loss-of-function AMBN variants are known to cause recessive hypoplastic AI. A report of a family with dominant hypoplastic AI attributed to AMBN missense change p.Pro357Ser, together with data from animal models, suggests that the consequences of AMBN variants in human AI remain incompletely characterized. Here we describe 5 new pathogenic AMBN variants in 11 individuals with AI. These fall within 3 groups by phenotype. Group 1, consisting of 6 families biallelic for combinations of 4 different variants, have yellow hypoplastic AI with poor-quality enamel, consistent with previous reports. Group 2, with 2 families, appears monoallelic for a variant shared with group 1 and has hypomaturation AI of near-normal enamel volume with pitting. Group 3 includes 3 families, all monoallelic for a fifth variant, which are affected by white hypoplastic AI with a thin intact enamel layer. Three variants, c.209C>G; p.(Ser70*) (groups 1 and 2), c.295T>C; p.(Tyr99His) (group 1), and c.76G>A; p.(Ala26Thr) (group 3) were identified in multiple families. Long-read AMBN locus sequencing revealed these variants are on the same conserved haplotype, implying they originate from a common ancestor. Data presented therefore provide further support for possible dominant as well as recessive inheritance for AMBN-related AI and for multiple contrasting phenotypes. In conclusion, our findings suggest pathogenic AMBN variants have a more complex impact on human AI than previously reported.

The burden of dental care in Amelogenesis Imperfecta paediatric patients in the UK NHS: a retrospective, multi-centred analysis.

PURPOSE: The burden of dental care in Amelogenesis Imperfecta (AI) has not been well described. This condition results in weak, discoloured and often sensitive teeth. Specialist paediatric care is available for AI patients in the UK, but treatment protocols and care provided are inconsistent. The aim of this study was therefore to analyse the provision of treatment and burden of care for children and families with AI across four Paediatric Dentistry centres in the UK. METHODS: A retrospective evaluation of AI patient clinical records across four UK consultant-led Paediatric Dentistry centres was completed. Frequency and duration of care were recorded along with treatment and experience of inhalation sedation, local and general anaesthetic. RESULTS: In total, 138 records were available for analysis. The average patient age at first referral was 7.7 years (range 1-16 years) and families travelled an average 21.8 miles per appointment (range 0.2-286 miles). Patients attended on average 4.5 appointments per year for 5.8 years. In total, 65.2% had experience of local anaesthetic, 27.5% inhalation sedation and 31.9% general anaesthetic. Dental treatment including restorations and extractions were commonly required on multiple teeth per patient. CONCLUSION: AI carries a high burden of specialist dental care to patients and families. Specialist centres are required to provide longitudinal, comprehensive care.

Genetic testing for amelogenesis imperfecta: knowledge and attitudes of paediatric dentists.

Introduction: Genetic testing is increasingly applied across healthcare reflecting the value to diagnosis, clinical decision-making, service organisation and advancement of the research-informed evidence base. Patient expectations are changing. Genetic testing has not been part of dental practice. Introduction of an NHS-targeted gene panel test for amelogenesis imperfecta (AI), a heterogeneous genetic disorder affecting enamel appearance and function, represents a paradigm shift. This impacts on specialists in paediatric dentistry and other members of the dental team delivering longitudinal care for individuals with AI. Aim: To evaluate the opinions of paediatric dentists on genetic testing for dental conditions using AI as the exemplar. Method: Two focus groups of nine UK NHS paediatric dentists each were audio recorded (September 2016) and transcribed verbatim. Qualitative analysis was undertaken using Interpretative Phenomenological Analysis (IPA). Results: A wide range of views reflected existing insight and understanding. Three core concepts of justification, ownership and challenges emerged. The clinicians were generally open to involvement with genetic testing in paediatric dentistry, but required more support. Conclusion: Areas for clarification and professional development were identified as important in ensuring that genetic testing in dentistry, which is currently in its infancy, reaches translational potential and enhances patient care as this area of healthcare continues to advance rapidly.

Molar incisor hypomineralisation: experience and perceived challenges among dentists specialising in paediatric dentistry and a group of general dental practitioners in the UK.

AIM: To assess the views and experience of the UK dentists specialising in paediatric dentistry (trainees) about molar incisor hypomineralisation (MIH) and compare the findings with the responses from a group of UK general dental practitioners. METHOD: A web-based questionnaire was sent to dentists undergoing specialist training in paediatric dentistry. The same questionnaire was completed by a group of general dentists who stated an interest in treating children, with various levels of experience. The questionnaire sought information on clinical experience and the views of the dentists on the impact of MIH on children and families. RESULTS: Specialty trainees (37) from different paediatric dental departments in the UK completed the online survey, giving a total response rate of 71%. The questionnaire was also completed by 31 general dental practitioners. There was difficulty in distinguishing MIH from other conditions for both groups. Increased sensitivity of affected teeth was the most frequently encountered problem with 51% of the trainees and 76% of the dentists saying this was often or always a challenge. The trainees were particularly concerned about the pain children experienced and about the appearance of the condition. Both groups felt that parental anxiety occurred in almost all cases. CONCLUSIONS: Both groups felt that MIH presents several clinical challenges and has a negative effect on the quality of life of the affected children and their families. There were significant differences in the views and perceptions between the two groups.

Prevalence of enamel defects and MIH in non-fluoridated and fluoridated communities.

AIM: This was to study the prevalence of enamel defects and molar incisor hypomineralisation (MIH) in children attending Leeds Dental Institute (UK) and Westmead Dental Hospital, Sydney (Australia). METHODS: Prospective dental examinations were carried out on 25 children referred to two orthodontic departments. A questionnaire was completed to obtain background information and about previous fluoride (F) exposure followed by an oral examination. First permanent molars and permanent incisors were examined for presence, type and severity of enamel defects using the modified DDE screening index. Chi square tests were used to compare results. RESULTS: Data for 24 children in Sydney and 20 in Leeds presented with at least one enamel defect. Of 300 teeth examined, 155 in Sydney and 82 in Leeds had a defect (p < 0.005). Severity of enamel defects was higher in Sydney. The children presenting with any type of enamel defect in at least one incisor or molar were 21 in Sydney and 10 in Leeds. However, if only demarcated defects were considered, the number in Sydney dropped to 11 and in Leeds remained at 10. CONCLUSIONS: There was a higher prevalence of enamel defects in those children living in F Sydney than in non-F Leeds, but the prevalence of MIH was the same supporting the view that F is not associated with the aetiology of MIH.

A comparison of the presentation of molar incisor hypomineralisation in two communities with different fluoride exposure.

AIM: To compare the clinical presentation of two cohorts of children diagnosed with molar incisor hypomineralisation (MIH) and living in areas of low and high background fluoridation. METHODS: The study population comprised 12-year-old children participating in the 2008-2009 National Dental Epidemiological Programme in five regions in Northern England. Participating dentists were trained and calibrated in the use of the modified Developmental Defects of Enamel Index. Children were examined at school under direct vision with the aid of a dental mirror. First permanent molars and incisors were recorded for the presence and type of enamel defects greater than 2 mm. A diagnosis of MIH was ascribed to any child with a demarcated defect in any first permanent molar. Risk ratios for the occurrence of demarcated, diffuse and hypoplastic defects were generated for MIH children in the fluoridated and non-fluoridated area. RESULTS: 3,233 children were examined. The prevalence of MIH in the fluoridated community was 11 % and in the non-fluoridated community was 17.5 %. Incisors in children with MIH were at greater risk of having demarcated defects (risk ratio 4.0, 3.6-4.5) and diffuse defects (risk ratio 2.2, 2.0-2.5). Molars in children with MIH were at greater risk of diffuse defects (risk ratio 4.4, 3.8-5.0). The teeth of children with MIH living in the fluoridated area were at greater risk of demarcated defects for both incisors (risk ratio 1.6, 1.3-2.0) and molars (risk ratio 1.3, 1.2-1.5) relative to the teeth of MIH children living in the non-fluoridated area. CONCLUSIONS: Children with MIH were at increased risk of both diffuse and demarcated defects in their incisors. Children with MIH living in the fluoridated area were at increased risk of diffuse and demarcated defects relative to MIH children living in the non-fluoridated area.

The prevalence of incisor hypomineralisation and its relationship with the prevalence of molar incisor hypomineralisation.

AIM: To establish the prevalence of incisor hypomineralisation (IH) in a cohort of 12-year-old children in Northern England and to relate the prevalence to gender, socioeconomic status, and the prevalence of molar incisor hypomineralisation (MIH). METHOD: The study population comprised 12-year-old children participating in the 2008-2009 National Dental Epidemiological Programme in five regions in Northern England. Participating dentists were trained and calibrated in the use of the modified Developmental Defects of Enamel Index. Children were examined at school under direct vision with the aid of a dental mirror. First permanent molars and incisors were recorded for the presence and type of enamel defects greater than 2 mm. A diagnosis of MIH was ascribed to any child with a demarcated defect in any first permanent molar. A diagnosis of IH was ascribed to any child with a demarcated defect in an incisor but with molar sparing. RESULTS: 3,233 children were examined. The prevalence of IH was 11.0 % (95 % CI 11.0-12.2 %). There was a strong positive correlation between the prevalence of MIH and IH in different regions which reached significance (r = 0.9, p = 0.037) according to Spearman's rho test of correlation. There was a similar pattern of prevalence in the different socioeconomic quintiles although this correlation did not reach significance. The most common teeth affected in IH were the maxillary central incisors, followed by the maxillary lateral incisors and followed by the mandibular incisors. There was no difference in the prevalence of IH by gender. CONCLUSIONS: The prevalence of IH was 11.0 %. The variation of prevalence between regions and socioeconomic groups and the distribution of lesions in the teeth were very similar to observations seen in MIH children from the same cohort.

The effect of age on body energy content of the annual cyprinodont fish, Nothobranchius guentheri.

Bomb calorimetry measurements were made on dried whole body samples of N. guentheri in an attempt to detect the effect of age induced protein crosslinking. The results show a clear decrease in body energy with increasing age. However, this decrease was larger than expected and was probably due to a slight decrease in body fat component with increasing age rather than crosslinking alone.

[Sick behavior of patients with rheumatic diseases]. / Krankheitsverhalten bei Patienten mit Weichteilrheumatismus.

The illness behavior of 119 patients with rheumatic disorders (predominantly nonarticular rheumatism) has been studied. The behavior differed in relation to the rheumatological diagnosis, the personality and the previous stress situations.

Anxiety related to dental general anaesthesia: changes in anxiety in children and their parents.

AIM: To examine the anxiety levels of children referred for dental general anaesthesia and their parents at various key points of the referral and anaesthetic procedure. METHODS: Structured interviews and anxiety measures were conducted with 50 children attending the Department of Paediatric Dentistry, Leeds Dental Institute, and progressing to general anaesthetic (GA) and their parents. Interviews were conducted with parents and children prior to initial assessment, following assessment and prior to a GA. Anxiety was measured at each interview, using the Visual Analogue Scale for parents and the Venham's Picture test for children. A fourth telephone interview was conducted with parents one week after the GA when the degree of upset caused to parents and children by the procedure was evaluated. RESULTS: Anxiety of children remained constant at each interview. Parent and child anxiety were not related. There was a rise in parent anxiety following initial assessment in those families attending in response to a routine referral and progressing to GA (p<0.05). There was a further rise in parent anxiety in these families immediately prior to the GA itself (p<0.001). Parent upset was strongly related to their anxiety at each of the three interviews prior to the GA (p<0.01, 0.05 and 0.001 respectively) and to the distress of their child (p<0.02). Child distress was strongly related to anxiety at each of the three interviews prior to the GA. CONCLUSION: The anxiety levels of children did not appear to change throughout the whole GA assessment and treatment process. Parent anxiety rose significantly following assessment and again just prior to the GA. Factors contributing to parent upset post treatment were child upset and pre treatment parent anxiety levels. Children who were most anxious prior to GA found the procedure most distressing.

[Social psychiatry in private practice]. / Sozialpsychiatrie in der privaten Praxis.

Though in general the practice of Community Mental Health (or "Social Psychiatry") is a task of the State, the County or the City governments, the panel discussed two instances of sizeable contributions by private practices to the tasks of community mental health, such as crisis intervention or the care of the chronically psychiatrically handicapped, which are not commonly treated in psychiatrists' offices. The "Psychosoziale Arbeitsgemeinschaft" of Basle began in a psychiatric group practice through common sessions with public health nurses, social workers and other community helpers and served a workers' section of the city. In the course of five years several other services could be built up, such as a day-care center for psychically handicapped, a patient visiting program through voluntary helpers and a rehabilitation workshop. Ultimately subsidy from State and Federal funds could be obtained. Another program, in Zurich, started in a nonpsychiatric general practice, also in a workers' section. The physicians of that group hired, at their own expense, a social worker-educator and psychotherapist with a five year experience in community mental health work to care for the social and psychological problems commonly found in every general practice. The costs of her work cannot be generally billed to the health insurance carriers, but it is possible for the therapist to negotiate case by case with the insurance, this with success in a good many cases. The discussion with the audience shows that, in spite of considerable difficulty, it appears that private practice and especially a group practice, can make a valuable contribution to the mental health care of a disadvantaged segment of the population.

An investigation into the dental health of children with obesity: an analysis of dental erosion and caries status.

AIM: To investigate whether children with obesity experienced more erosion and caries than children with normal weight. METHODS: This study involved children aged 7-15 years. The study and control group comprised 32 children with BMI > 98th centile and 32 healthy children with normal BMI-for-age, respectively. O'Sullivan Erosion Index and WHO Caries Index were used in the examination of erosion and caries, respectively. Stimulated salivary flow rate, buffering capacity, Streptococcus mutans and lactobacilli counts (CFU/ml) were evaluated. A cross-sectional questionnaire survey was employed to collect information on participant's demographic background, oral health history and habits, and utilisation of dental care services. RESULTS: Children with obesity were more likely to have erosion than healthy children (p < 0.001), and had more erosion in terms of severity (p < 0.0001) and area affected (p < 0.0001), but not in the number of surfaces affected (p = 0.167). Posterior teeth were less likely than anterior teeth to be affected by erosion (OR 0.32, 95 % CI 0.012-0.082). Gender had no effect on erosion. There were no statistically significant differences in the DMFT, saliva profiles or questionnaire responses between the groups. CONCLUSIONS: Children with obesity may have high risk of dental erosion, but do not necessarily have higher risk of dental caries than children with normal weight.

An evaluation of paediatric dental general anaesthesia in Yorkshire and the Humber.

BACKGROUND: Following major change in UK policy regarding dental general anaesthesia (DGA) in 2001, there appears to be little information available about paediatric DGA services, their organisation, availability and utilisation. AIMS: To establish the location, organisation and monitoring systems of paediatric DGA services in Yorkshire and the Humber Strategic Health Authority and to audit these services against existing standards of best practice. DESIGN: A postal survey of all potential paediatric DGA providers in Yorkshire and the Humber. RESULTS: Thirty-one possible DGA service providers were identified, 24 of which provided paediatric DGAs. Of 84 DGA lists identified, 75 regularly treated children, and nine were run on an ad hoc basis. The lists were held in 20 centres. The number of patients treated per list varied depending on treatment provided, ranging from 3.9 to 7.5 patients per list. Maximum waiting times varied from three to 84 weeks. Outcome data recording methods varied. Just over half of respondents used the Hospital Episode Statistics system; the remainder used other systems, or none. CONCLUSIONS: There was much variation in how DGA lists were organised. Most lists met some of the accepted standards, but very few met all. Waiting times were largely in accordance with national targets.

Chemical vapour deposition synthetic diamond: materials, technology and applications.

Substantial developments have been achieved in the synthesis of chemical vapour deposition (CVD) diamond in recent years, providing engineers and designers with access to a large range of new diamond materials. CVD diamond has a number of outstanding material properties that can enable exceptional performance in applications as diverse as medical diagnostics, water treatment, radiation detection, high power electronics, consumer audio, magnetometry and novel lasers. Often the material is synthesized in planar form; however, non-planar geometries are also possible and enable a number of key applications. This paper reviews the material properties and characteristics of single crystal and polycrystalline CVD diamond, and how these can be utilized, focusing particularly on optics, electronics and electrochemistry. It also summarizes how CVD diamond can be tailored for specific applications, on the basis of the ability to synthesize a consistent and engineered high performance product.

Unlocking diamond's potential as an electronic material.

In this paper, we review the suitability of diamond as a semiconductor material for high-performance electronic applications. The current status of the manufacture of synthetic diamond is reviewed and assessed. In particular, we consider the quality of intrinsic material now available and the challenges in making doped structures suitable for practical devices. Two practical applications are considered in detail. First, the development of high-voltage switches capable of switching voltages in excess of 10 kV. Second, the development of diamond MESFETs for high-frequency and high-power applications. Here device data are reported showing a current density of more than 30 mA mm(-1) along with small-signal RF measurements demonstrating gigahertz operation. We conclude by considering the remaining challenges which will need to be overcome if commercially attractive diamond electronic devices are to be manufactured.