299 research outputs found
Poly(alkyl methacrylate) tooth coatings for dental care: evaluation of the demineralisation-protection benefit using a time-resolved in vitro method
An in vitro method for the time-resolved quantification of acid-mediated tooth demineralisation has been developed and evaluated against putative non-permanent protective formulations based on a series of poly(alkyl methacrylate)s. Using a thermostatted carousel, dentally relevant substrates consisting of hydroxyapatite discs or sections of bovine teeth have been exposed to aqueous citric acid under controlled conditions, before and after being treated with the polymeric coatings. The dissolution of phosphate was monitored by the determination of 31P by Inductively Coupled Plasma—Mass Spectrometry and by the spectrophotometric phosphovanadomolybdate method. Dose-response plots constructed for both groups of treated substrates have revealed that the coatings significantly reduce erosion rates but are less effective at inhibiting tooth demineralisation than the standard fluoride treatment. The approach has enabled an evaluation of the erosion-protection efficiency of each coating
The role of the genetic counsellor: a systematic review of research evidence
In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and facilitation of psychosocial adjustment of the client to their genetic status and situation. To evaluate the extent to which genetic counsellors fulfil their prescribed roles, we conducted a systematic review of the published relevant scientific evidence. We searched five relevant electronic databases (Medline, CINAHL, SocIndex, AMED and PsychInfo) using relevant search terms and handsearched four subject-specific journals for research-based papers published in English between 1 January 2000 and 30 June 2013. Of 419 potential papers identified initially, seven satisfied the inclusion criteria for the review. Themes derived from the thematic analysis of the data were: (i) rationale for genetic counsellors to provide care, (ii) appropriate roles and responsibilities and (iii) the types of conditions included in the genetic counsellor caseload. The findings of this systematic review indicate that where genetic counsellors are utilised in specialist genetic settings, they undertake a significant workload associated with direct patient care and this appears to be acceptable to patients. With the burden on genetic services, there is an argument for the increased use of genetic counsellors in countries where they are under-utilised. In addition, roles undertaken by genetic counsellors in specialist genetic settings could be adapted to integrate genetic counsellors into multi-disciplinary teams in other specialisms
A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service
Abstract
Ensuring patient access to genomic information in the face of increasing demand requires clinicians to develop innovative ways of working. This paper presents the first empirical prospective observational cohort study of UK multi-disciplinary genetic service delivery. It describes and explores collaborative working practices including the utilisation and role of clinical geneticists and non-medical genetic counsellors. Six hundred and fifty new patients referred to a regional genetics service were tracked through 850 clinical contacts until discharge. Referral decisions regarding allocation of lead health professional assigned to the case were monitored, including the use of initial clinical contact guidelines. Significant differences were found in the cases led by genetic counsellors and those led by clinical geneticists. Around a sixth, 16.8% (109/650) of referrals were dealt with by a letter back to the referrer or re-directed to another service provider and 14.8% (80/541) of the remaining patients chose not to schedule an appointment. Of the remaining 461 patients, genetic counsellors were allocated as lead health professional for 46.2% (213/461). A further 61 patients did not attend. Of those who did, 86% (345/400) were discharged after one or two appointments. Genetic counsellors contributed to 95% (784/825) of total patient contacts. They provided 93.7% (395/432) of initial contacts and 26.8% (106/395) of patients were discharged at that point. The information from this study informed a planned service re-design. More research is needed to assess the effectiveness and efficiency of different models of collaborative multi-disciplinary working within genetics services. Keywords (MeSH terms)
Genetic Services, Genetic Counseling, Interdisciplinary Communication, Cohort Studies, Delivery of Healthcare, Referral and Consultation
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
Purpose: Neurodevelopmental disorders (NDD) caused by protein
phosphatase 2A (PP2A) dysfunction have mainly been associated
with de novo variants in PPP2R5D and PPP2CA, and more rarely in
PPP2R1A. Here, we aimed to better understand the latter by
characterizing 30 individuals with de novo and often recurrent
variants in this PP2A scaffolding Aα subunit.
Methods: Most cases were identified through routine clinical
diagnostics. Variants were biochemically characterized for phosphatase activity and interaction with other PP2A subunits.
Results: We describe 30 individuals with 16 different variants in
PPP2R1A, 21 of whom had variants not previously reported. The severity
of developmental delay ranged from mild learning problems to severe
intellectual disability (ID) with or without epilepsy. Common features
were language delay, hypotonia, and hypermobile joints. Macrocephaly
was only seen in individuals without B55α subunit-binding deficit, and
these patients had less severe ID and no seizures. Biochemically more
disruptive variants with impaired B55α but increased striatin binding
were associated with profound ID, epilepsy, corpus callosum hypoplasia,
and sometimes microcephaly.
Conclusion: We significantly expand the phenotypic spectrum of
PPP2R1A-related NDD, revealing a broader clinical presentation of the
patients and that the functional consequences of the variants are more
diverse than previously reported
The oral microbiome – an update for oral healthcare professionals
For millions of years, our resident microbes have coevolved and coexisted with us in a mostly harmonious symbiotic relationship. We are not distinct entities from our microbiome, but together we form a 'superorganism' or holobiont, with the microbiome playing a significant role in our physiology and health. The mouth houses the second most diverse microbial community in the body, harbouring over 700 species of bacteria that colonise the hard surfaces of teeth and the soft tissues of the oral mucosa. Through recent advances in technology, we have started to unravel the complexities of the oral microbiome and gained new insights into its role during both health and disease. Perturbations of the oral microbiome through modern-day lifestyles can have detrimental consequences for our general and oral health. In dysbiosis, the finely-tuned equilibrium of the oral ecosystem is disrupted, allowing disease-promoting bacteria to manifest and cause conditions such as caries, gingivitis and periodontitis. For practitioners and patients alike, promoting a balanced microbiome is therefore important to effectively maintain or restore oral health. This article aims to give an update on our current knowledge of the oral microbiome in health and disease and to discuss implications for modern-day oral healthcare
Enamel-like apatite crown covering amorphous mineral in a crayfish mandible
Carbonated hydroxyapatite is the mineral found in vertebrate bones and teeth, whereas invertebrates utilize calcium carbonate in their mineralized organs. In particular, stable amorphous calcium carbonate is found in many crustaceans. Here we report on an unusual, crystalline enamel-like apatite layer found in the mandibles of the arthropod Cherax quadricarinatus (freshwater crayfish). Despite their very different thermodynamic stabilities, amorphous calcium carbonate, amorphous calcium phosphate, calcite and fluorapatite coexist in well-defined functional layers in close proximity within the mandible. The softer amorphous minerals are found primarily in the bulk of the mandible whereas apatite, the harder and less soluble mineral, forms a wear-resistant, enamel-like coating of the molar tooth. Our findings suggest a unique case of convergent evolution, where similar functional challenges of mastication led to independent developments of structurally and mechanically similar, apatite-based layers in the teeth of genetically remote phyla: vertebrates and crustaceans
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